From 008f26b936747cd53ee49b3c2b484d8e41b7f813 Mon Sep 17 00:00:00 2001 From: Matteo Arnaudi Date: Mon, 13 Oct 2025 09:12:45 +0200 Subject: [PATCH 1/2] Add MAVISp_Benchmark tool and updating the README.md accordingly --- README.md | 1 + tools/MAVISpBenchmark/MAVISpBenchmark.py | 1317 ++ tools/MAVISpBenchmark/README.md | 642 + tools/MAVISpBenchmark/config.yaml | 44 + .../example/MLH1-simple_mode.csv | 11325 ++++++++++++++++ tools/MAVISpBenchmark/example/config.yaml | 85 + .../example/exclude_residues.csv | 19 + tools/MAVISpBenchmark/example/readme.txt | 5 + tools/MAVISpBenchmark/example/run.sh | 2 + .../test_classification_logic/config.yaml | 48 + .../generate_test.py | 56 + .../confusion_matrix/confusion_matrix.pdf | Bin 0 -> 14233 bytes .../confusion_matrix/confusion_matrix.png | Bin 0 -> 134417 bytes .../confusion_matrix_data.csv | 33 + .../confusion_matrix/metrics.csv | 2 + .../priority/scatter_plot.pdf | Bin 0 -> 20877 bytes .../priority/scatter_plot.png | Bin 0 -> 221775 bytes 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tools/MAVISpBenchmark/test_classification_logic/run.sh create mode 100644 tools/MAVISpBenchmark/test_classification_logic/test-simple_mode.csv diff --git a/README.md b/README.md index e130f00..fbafd5d 100644 --- a/README.md +++ b/README.md @@ -21,6 +21,7 @@ This repository provides accessory tools associated with papers and activities o 1. mavisp\_af3: a toolkit for processing the .zip package obtained from the AlphaFold3 server. It converts the predicted structures from .cif to .pdb, computes pdockq2 scores for multi-chain models, and outputs a summary table collecting all available confidence metrics for each generated structure. 2. mavisp\_afmultimer: a toolkit that generates protein complex structures with AlphaFold-Multimer from provided FASTA sequences, computes pdockq2 scores, and outputs a summary table of confidence metrics in the same format as mavisp\_af3. - **uniprot2refseq**: a script to retrieve the correct refseq ID given a uniprot ID - to use before the mavisp_automatization step to ensure the proper match between identifiers +- **MAVISpBenchmark** MAVISpBenchmark.py provides a comprehensive framework for analyzing and comparing MAVISp classifications and variant effect predictors (currently GEMME and DeMaSK) against experimental data. The script can operate either by using MAVISp classification columns directly or by combining multiple columns to generate ensemble classifications. The combination logic is fully configurable through a YAML file, which supports three alternative approaches—voting, priority, and weighted schemes—allowing for a flexible and detailed classification system tailored to specific analytical needs. ## Citations diff --git a/tools/MAVISpBenchmark/MAVISpBenchmark.py b/tools/MAVISpBenchmark/MAVISpBenchmark.py new file mode 100644 index 0000000..6241e21 --- /dev/null +++ b/tools/MAVISpBenchmark/MAVISpBenchmark.py @@ -0,0 +1,1317 @@ +import pandas as pd +import os +import re +import argparse +import numpy as np +import glob +import matplotlib.pyplot as plt +import yaml +from scipy.stats import pearsonr +import seaborn as sn +from sklearn.metrics import confusion_matrix +import numpy as np +import warnings +import matplotlib.patches as mpatches + + +def plot_confusion_matrix(cm, + predictor_column, + experiment_column, + output_path, + color_map, + labels=["Damaging", "Neutral"] + ): + ''' + Plot the confusion matrix using Seaborn. + + Parameters: + cm (np.ndarray): The confusion matrix (2x2 numpy array). + title (str): The title of the confusion matrix. + labels (list): Labels for the classes (default is Positive and Negative). + ''' + plt.figure(figsize=(10,6)) + sn.heatmap(cm, annot=True, fmt="d", cmap=color_map, cbar=False, + xticklabels=[f"{label}" for label in labels], + yticklabels=[f"{label}" for label in labels]) + + title=f"({experiment_column}_VS_{predictor_column})" + plt.title(title) + plt.xlabel(predictor_column) + plt.ylabel(experiment_column) + + for extension in [".png",".pdf"]: + plt.savefig(f"{output_path}/confusion_matrix{extension}", bbox_inches='tight', dpi=300) + + plt.close() + + + + +def generate_confusion_matrix(df, + gold_col, + pred_col): + ''' + Generates a confusion matrix by comparing two columns of a DataFrame. + + Parameters: + df: pd.DataFrame + The DataFrame containing the columns to compare. + gold_col: str + The name of the column containing the golden standard. + pred_col: str + The name of the column containing the predictions. + + Outputs: + np.ndarray: The confusion matrix. + ''' + + # Ensure both columns exist + if gold_col not in df.columns or pred_col not in df.columns: + raise ValueError(f"Columns '{gold_col}' and/or '{pred_col}' not found in the DataFrame.") + + # Extract the columns for the confusion matrix + df[gold_col] = df[gold_col].astype(str) + df[pred_col] = df[pred_col].astype(str) + y_true = df[gold_col] + y_pred = df[pred_col] + + # Compute the confusion matrix + cm = confusion_matrix(y_true, y_pred) + + return cm + + +import pandas as pd + +def metrics(array, + predictor_column, + experiment_column, + output_path): + ''' + Computes various performance metrics based on the provided confusion + matrix, comparing a "golden standard" simulation time with another + simulation time. The function generates sensitivity, specificity, + precision, F1 score, accuracy, MCC, and dataset size, and outputs these + metrics to a CSV file. + + Parameters + ---------- + array: np array + A 2x2 confusion matrix where: + array[0][0]: True Positives (short-destabilized, long-destabilized) + array[1][1]: True Negatives (short-neutral, long-neutral) + array[0][1]: False Positives (short-neutral, long-destabilized) + array[1][0]: False Negatives (short-destabilized, long-neutral) + predictor_column: str + The simulation time being evaluated. + experiment_column: str + The "golden standard" simulation time for comparison. + output_path: str + Directory where the output CSV file will be saved. + + Outputs + ---------- + CSV file: saved to the output directory with performance metrics. + ''' + + pred_dest_exp_dest = array[0][0] # TP + pred_neut_exp_neut = array[1][1] # TN + pred_neut_exp_dest = array[0][1] # FP + pred_dest_exp_neut = array[1][0] # FN + + # Dataset size + dataset_size = pred_dest_exp_dest + pred_neut_exp_neut + pred_neut_exp_dest + pred_dest_exp_neut + + # Sensitivity (Recall) + if (pred_neut_exp_dest + pred_dest_exp_dest) > 0: + sensitivity = round(pred_dest_exp_dest / (pred_neut_exp_dest + pred_dest_exp_dest), 3) + else: + sensitivity = "nan" + + # Specificity + if (pred_neut_exp_neut + pred_dest_exp_neut) > 0: + specificity = round(pred_neut_exp_neut / (pred_neut_exp_neut + pred_dest_exp_neut), 3) + else: + specificity = "nan" + + # Precision + if (pred_dest_exp_dest + pred_dest_exp_neut) > 0: + precision = round(pred_dest_exp_dest / (pred_dest_exp_dest + pred_dest_exp_neut), 3) + else: + precision = "nan" + + # F1 Score + if precision != "nan" and sensitivity != "nan": + if (precision + sensitivity) != 0: + F1_score = round(2 * (precision * sensitivity / (precision + sensitivity)), 3) + else: + F1_score = "nan" + else: + F1_score = "nan" + + # Accuracy + if dataset_size > 0: + accuracy = round((pred_dest_exp_dest + pred_neut_exp_neut) / dataset_size, 3) + else: + accuracy = "nan" + + # MCC + numerator = (pred_dest_exp_dest * pred_neut_exp_neut) - (pred_neut_exp_dest * pred_dest_exp_neut) + denominator = ((pred_dest_exp_dest + pred_neut_exp_dest) * + (pred_dest_exp_dest + pred_dest_exp_neut) * + (pred_neut_exp_neut + pred_neut_exp_dest) * + (pred_neut_exp_neut + pred_dest_exp_neut)) ** 0.5 + if denominator > 0: + mcc = round(numerator / denominator, 3) + else: + mcc = "nan" + + # Collect metrics + metric = { + "sensitivity": sensitivity, + "specificity": specificity, + "accuracy": accuracy, + "precision": precision, + "F1 score": F1_score, + "MCC": mcc, + "dataset_size": dataset_size + } + + # Save to CSV + protein_performance_metric = pd.DataFrame([metric]) + protein_performance_metric.to_csv(f"{output_path}/metrics.csv", index=False) + + return metric + + + +def plot_residue_mutation_distribution(df, + mut_col, + wt_col, + output_path): + """ + Plots side-by-side barplots: percentage of mutated vs WT residues, + coloring bars according to type, and also plots amino acid class distribution. + + Parameters: + ---------- + df : pd.DataFrame + DataFrame with mutation and WT residue columns. + mut_col : str + Column indicating mutated residue (e.g., 'A', 'R', etc.). + wt_col : str + Column indicating WT residue with position (e.g., 'A23'). + output_path : str + Base path to save the plots. + """ + # --- Preprocessing --- + df["WT_res"] = df[wt_col].str.extract(r"([A-Z])") + + mut_counts = df[mut_col].value_counts(normalize=True) * 100 + wt_counts = df["WT_res"].value_counts(normalize=True) * 100 + + residues = sorted(set(mut_counts.index) | set(wt_counts.index)) + + plot_df = pd.DataFrame({ + "Residue": residues, + "Mutated": [mut_counts.get(r, 0) for r in residues], + "WT": [wt_counts.get(r, 0) for r in residues] + }).melt(id_vars="Residue", value_vars=["Mutated", "WT"], var_name="Type", value_name="Percentage") + + # --- Plot histogram --- + plt.figure(figsize=(12,6)) + sn.barplot(data=plot_df, x="Residue", y="Percentage", hue="Type") + plt.title("Residue Mutation Distribution") + plt.ylabel("Percentage (%)") + plt.xlabel("Residue") + plt.legend(title="Type", loc='center left', bbox_to_anchor=(1, 0.5)) + plt.tight_layout() + plt.savefig(f"{output_path}/divergent_classification_aminaocid_distribution.png", dpi=300) + plt.savefig(f"{output_path}/divergent_classification_aminaocid_distribution.pdf") + plt.close() + + # --- Amino acid class plot --- + aa_classes = { + "A": "Nonpolar", "V": "Nonpolar", "L": "Nonpolar", "I": "Nonpolar", "M": "Nonpolar", + "F": "Aromatic", "Y": "Aromatic", "W": "Aromatic", + "S": "Polar", "T": "Polar", "N": "Polar", "Q": "Polar", "C": "Polar", + "D": "Acidic", "E": "Acidic", + "K": "Basic", "R": "Basic", "H": "Basic", + "G": "Nonpolar", "P": "Nonpolar" + } + + df["Mut_class"] = df[mut_col].map(aa_classes) + df["WT_class"] = df["WT_res"].map(aa_classes) + + mut_class_counts = df["Mut_class"].value_counts(normalize=True) * 100 + wt_class_counts = df["WT_class"].value_counts(normalize=True) * 100 + classes = sorted(set(mut_class_counts.index) | set(wt_class_counts.index)) + + plot_df_class = pd.DataFrame({ + "Class": classes, + "Mutated": [mut_class_counts.get(c,0) for c in classes], + "WT": [wt_class_counts.get(c,0) for c in classes] + }).melt(id_vars="Class", value_vars=["Mutated","WT"], var_name="Type", value_name="Percentage") + + plt.figure(figsize=(12,6)) + sn.barplot(data=plot_df_class, x="Class", y="Percentage", hue="Type") + plt.title("Amino Acid Class Distribution") + plt.ylabel("Percentage (%)") + plt.xlabel("Class") + + # Custom legend handles for residue classes + class_legend = [ + mpatches.Patch(color="white", label="Residue Classes:"), + mpatches.Patch(color="white", label="Nonpolar: A, V, L, I, M, G, P"), + mpatches.Patch(color="white", label="Aromatic: F, Y, W"), + mpatches.Patch(color="white", label="Polar: S, T, N, Q, C"), + mpatches.Patch(color="white", label="Acidic: D, E"), + mpatches.Patch(color="white", label="Basic: K, R, H") + ] + + # Legend for WT/Mutated + Residue classes + handles, labels = plt.gca().get_legend_handles_labels() + plt.legend(handles=handles + class_legend, + loc='center left', bbox_to_anchor=(1, 0.5), frameon=False) + + plt.tight_layout() + plt.savefig(f"{output_path}/divergent_classification_aminoacid_class.png", dpi=300) + plt.savefig(f"{output_path}/divergent_classification_aminoacid_class.pdf") + plt.close() + +def score_classification(df,column_name, new_column_name): + """ + Adds a new classification column to the DataFrame based on the values of an existing column. + + Parameters: + ---------- + df : pandas.DataFrame + The original DataFrame. + column_name : str + The name of the column to use for classification. + new_column_name : str, optional + The name of the new classification column (default: 'classification'). + + Returns: + -------- + pandas.DataFrame + The DataFrame with the new classification column added. + """ + + + # Apply conditional function for the values classiifcation + if "GEMME" in column_name: + df[new_column_name] = df[column_name].apply(lambda x: 'Damaging' if x <= -3 or x >= 3 else 'Neutral') + if "DeMaSk" in column_name: + df[new_column_name] = df[column_name].apply(lambda x: 'Damaging' if x <= -0.25 or x >= 0.25 else 'Neutral') + + return df + + +def plot_accessibility_kde(df, + col_name, + threshold, + output_path): + """ + Plots the KDE distribution of side-chain solvent accessibility with a vertical threshold line. + + Parameters: + ---------- + df : pd.DataFrame + DataFrame containing accessibility values. + col_name : str + Column name with accessibility values. + threshold : float + Threshold to display as vertical line. + output_path : str + Base path for saving the figure (PDF and PNG). + """ + plt.figure(figsize=(12,6)) + sn.kdeplot(df[col_name], fill=True, color="blue", alpha=0.5) + plt.axvline(threshold, color="red", linestyle="--", label=f"Threshold = {threshold}") + plt.xlabel("Relative Side Chain Solvent Accessibility") + plt.ylabel("Density") + plt.title("Distribution of Side Chain Solvent Accessibility") + plt.legend(loc='center left', bbox_to_anchor=(1, 0.5)) + plt.tight_layout() + plt.savefig(f"{output_path}/divergent_classification_accessibility.png", dpi=300) + plt.savefig(f"{output_path}/divergent_classification_accessibility.pdf") + plt.close() + + + + + + +def scatter_plot(df, variant_predictor_column, experiment_column, mavisp_column, output_path, color_mapping=None): + """ + Create a scatter plot and a regression line from the provided data. + + Parameters + ---------- + df: pandas DataFrame + DataFrame containing the data + variant_predictor_column: string + Name of the column for the x-axis (predictions) + experiment_column: string + Name of the column for the y-axis (experiments) + stability_column: string + Name of the column for the color of the points + output_path: string + Path to store the output files + color_mapping: dict, optional + Dictionary that maps stability_column values to specific colors + + Returns + ------- + scatter_plot: plt plot + png and pdf files of the plots + """ + + # Create the scatter plot + plt.figure(figsize=(12, 6)) + + #df = df.replace([np.inf, -np.inf], np.nan).dropna(subset=[prediction_column, experiment_column]) + + df[mavisp_column] = df[mavisp_column].astype(str) + + # Check if color mapping is provided + if color_mapping is None: + color_mapping = { + 'Damaging': 'red', + 'Neutral': 'blue', + 'Uncertain':'grey', + # Add more mappings as needed + } + + # Map the colors using the provided or default color mapping + if df[mavisp_column].dtype == 'object': + colors = df[mavisp_column].map(color_mapping) + + scatter = plt.scatter(df[variant_predictor_column], df[experiment_column], c=colors, edgecolor='k', s=25) + + # Add a legend + handles = [plt.Line2D([0], [0], marker='o', color=color_mapping[label], label=label, markersize=10) for label in color_mapping] + plt.legend(handles=handles, title=mavisp_column) + else: + scatter = plt.scatter(df[variant_predictor_column], df[experiment_column], c=df[mavisp_column], cmap='viridis', edgecolor='k', s=25) + plt.colorbar(scatter, label=mavisp_column) + + + # Calculate Pearson correlation coefficient + pearson_corr, _ = pearsonr(df[variant_predictor_column], df[experiment_column]) + + # Fit a regression line + slope, intercept = np.polyfit(df[variant_predictor_column], df[experiment_column], 1) + regression_line = slope * df[variant_predictor_column] + intercept + + # Plot the regression line + plt.plot(df[variant_predictor_column], regression_line, color='red', label='Regression Line', linewidth=2) + + title = f"{variant_predictor_column} vs {experiment_column}" + + # Legend adjustment + legend_title = mavisp_column + plt.legend(handles=handles + [plt.Line2D([0], [0], color='black', lw=0, marker='o', label=f'Pearson Correlation: {pearson_corr:.2f}')], + loc='upper left', bbox_to_anchor=(1.05, 1), title=legend_title, title_fontsize='small',fontsize='smaller', markerscale=0.3, labelspacing=0.3) + + plt.title(title) + plt.xlabel(variant_predictor_column) + plt.ylabel(experiment_column) + plt.grid(False) # Disable grid + output = output_path + "/" + "scatter_plot" + for extension in [".png", ".pdf"]: + plt.savefig(f"{output}{extension}", bbox_inches='tight', dpi=300) + plt.close() + + +def plot_distribution_with_highlighted_mutations(df, data_column, mavisp_classification_column, mutations_list, output_path, experimental_thresholds=None): + ''' + Creates a distribution plot with KDE (kernel density estimation) using the data in the specified column. + Highlights the points corresponding to the mutations provided in the list and colors the points based on classification. + + Parameters: + ---------- + df: pd.DataFrame + The DataFrame containing 'Mutation', 'classification', and a column with the data to plot. + + data_column: str + The name of the column in the DataFrame containing the data to be plotted. + + mutations_list: list of str + A list of mutations (strings) to be highlighted in the plot. + ''' + fig, ax = plt.subplots(figsize=(12, 6)) + # Create the distribution plot for all data + sn.kdeplot(df[data_column],fill = True) + + # Filter the DataFrame based on the list of mutations + filtered_df = df[df['Mutation'].isin(mutations_list)] + + # Map old labels to new labels + label_mapping = { + 'Damaging': 'Damaging', + 'Neutral': 'Neutral' + } + + filtered_df = filtered_df.copy() + filtered_df['legend'] = filtered_df[mavisp_classification_column].map(label_mapping) + + # Count Neutral and Damaging + counts = filtered_df['legend'].value_counts().to_dict() + + # Add the highlighted points (dot plot), colored by classification + sn.scatterplot(x=filtered_df[data_column], + y=[0.01] * len(filtered_df), + hue=filtered_df['legend'], # Color by classification + s=10, + ax=ax) + + if experimental_thresholds: + for threshold in set(experimental_thresholds): + ax.axvline(x=threshold, color='red', linestyle='--') + + # Add title and labels + ax.set_title(f"Distribution Plot ({data_column})") + ax.set_xlabel("Experimental scores") + ax.set_ylabel("Frequency") + + # Custom legend with counts + handles, labels = ax.get_legend_handles_labels() + new_labels = [] + for lab in labels: + if lab in counts: + new_labels.append(f"{lab} (n={counts[lab]})") + else: + new_labels.append(lab) + + legend_title = mavisp_classification_column + ax.legend( + handles, + new_labels, + title=f'Discordant classifications {legend_title}', + fontsize=5, + title_fontsize=6, + bbox_to_anchor=(1.05, 1), # fuori a destra + loc='upper left' + ) + + # save the plot + output = output_path + "/" + "distribution_plot" + for extension in [".png", ".pdf"]: + fig.savefig(f"{output}{extension}", bbox_inches='tight', dpi=300) + plt.close(fig) + + +def performance_histogram_plot(df, output_path, color_palette): + """ + This function creates a grouped bar plot from a DataFrame showing performance metrics + (sensitivity, specificity, accuracy, F1 score, and precision) for different methods. + Each method is represented by a different color, with bars grouped by metrics. + + Parameters: + df (pd.DataFrame): A DataFrame containing performance data. The first column should be 'method', + and the remaining columns should be the metrics (sensitivity, specificity, etc.). + output_path (str): The path where the plot should be saved. + """ + + # Step 1: Ensure 'method' is the first column (reorder columns) + columns_order = ['method'] + [col for col in df.columns if col != 'method'] + df = df[columns_order] + + # Step 2: Ensure all metric columns are of float type + for col in df.columns[1:]: + df[col] = df[col].astype(float) + + # Step 3: Define metrics and number of methods + metrics = df.columns[1:] + num_metrics = len(metrics) + num_methods = len(df['method'].unique()) + + # Step 4: Create a color palette using seaborn + palette = sn.color_palette(color_palette, num_methods) # 'Set2' palette, can be changed + color_map = dict(zip(df['method'], palette)) # Map each method to a color from the palette + + # Step 5: Create a figure for the plot + fig, ax = plt.subplots(figsize=(12, 6)) + + # Step 6: Define the width of each bar and the positions for the groups of metrics + bar_width = 0.2 + indices = np.arange(num_metrics) # Positions for each metric + + # Step 7: Plot the bars for each method side by side within each metric group + for i, method in enumerate(df['method']): + # Offset the positions of the bars for each method + offset = i * bar_width + ax.bar(indices + offset, df.iloc[i, 1:], width=bar_width, label=method, color=color_map[method], alpha=0.7) + + # Step 8: Set the x-axis labels and ticks + ax.set_xticks(indices + bar_width * (num_methods - 1) / 2) + ax.set_xticklabels(metrics) + + # Step 9: Add labels and title + ax.set_xlabel('Metrics') + ax.set_ylabel('Scores') + ax.set_title('Performance Metrics') + + # Step 10: Add the legend outside the plot + ax.legend( + title='Method', + bbox_to_anchor=(1.05, 1), + loc='upper left' + ) + + # Step 11: Save the plot + output = output_path + "/" + "histogram_plot" + for extension in [".png", ".pdf"]: + plt.savefig(f"{output}{extension}", bbox_inches='tight', dpi=300) + + # Step 12: Close the plot to free memory + plt.close() + + +def df_for_histogram_plot_creation(performance_dictionary): + dfs = [] + for method,metrics in performance_dictionary.items(): + df = pd.DataFrame([metrics]) + df["method"] = method + dfs.append(df) + + return pd.concat(dfs) + + +def remove_mutations(df,column,mutation): + filtered_df = df.loc[df[column] != mutation] + return filtered_df + + +def filter_different_rows(df, col1, col2): + """ + Filters rows in the DataFrame where the values in the two specified columns are different. + + Parameters + ---------- + df: pd.DataFrame + Input DataFrame containing the data. + col1: str + Name of the first column to compare. + col2: str + Name of the second column to compare. + + Returns + ------- + pd.DataFrame + A new DataFrame with three columns: 'mutation', col1, and col2. + Only includes rows where the values in col1 and col2 are different. + """ + + # Check if the specified columns exist in the DataFrame + if col1 not in df.columns or col2 not in df.columns or 'Mutation' not in df.columns: + raise ValueError("One or more specified columns are not present in the DataFrame.") + + # Create a boolean mask for rows where values in col1 and col2 are different + mask = df[col1] != df[col2] + + # Create the new DataFrame with the specified columns and mutation + result_df = df.loc[mask] + + return result_df + +# --------------------------- +# Normalization +# --------------------------- +def normalize_classification(value, normalization_dict): + """ + Maps a value to its main class according to the normalization_dict. + Case-insensitive. Returns the original value if no match is found. + """ + if pd.isna(value): + return value # keep NaN as is + str_val = str(value).strip().lower() + for class_name, variants in normalization_dict.items(): + if any(str(v).strip().lower() == str_val for v in variants): + return class_name + warnings.warn(f"Value '{value}' not found in normalization dictionary.") + return value + +# --------------------------- +# Voting logic +# --------------------------- + + +def apply_voting_logic(row, columns, config): + """ + Apply voting logic for a specific target class. + """ + values = [row[col] for col in columns] + target = config["target_class"] + logic = config["logic"] + fallback = config.get("fallback", "Unknown") + handle_uncertain = config.get("handle_uncertain", "ignore") + + # Case: all are Uncertain + if all(v == "Uncertain" for v in values): + if handle_uncertain in ("ignore", "as_fallback"): + return fallback + elif handle_uncertain == "return_uncertain": + return "Uncertain" + + # Apply voting strategy + if logic == "majority": + count_target = sum(1 for v in values if v == target) + if count_target > len(values) / 2: + return target + elif count_target == len(values) / 2: + return fallback + else: + return fallback + + elif logic == "at_least_one": + return target if target in values else fallback + + elif logic == "all": + return target if all(v == target for v in values) else fallback + + return fallback + +# --------------------------- +# Priority logic +# --------------------------- +def apply_priority_logic(row, config): + """ + Apply priority-based classification logic. + + Parameters: + row (pd.Series): single row of DataFrame + config (dict): contains 'class_order' and 'priority_for_classification' + + Returns: + str: combined classification + """ + class_order = config["class_order"] + priority_for_class = config["priority_for_classification"] + + for target_class in class_order: + if target_class not in priority_for_class: + continue + for col in priority_for_class[target_class]: + if row[col] == target_class: + return target_class + return "Uncertain" + +# --------------------------- +# Weighted logic +# --------------------------- +def apply_weighted_logic(row, columns, config): + """ + Apply weighted classification. + """ + weights = config.get("weights", {}) + threshold = config.get("threshold", 0.5) + + # Calculate weighted score + score = 0.0 + total_weight = 0.0 + for col in columns: + weight = weights.get(col, 1.0) + total_weight += weight + if row[col] == "Damaging": + score += weight + + # Normalize and compare + if total_weight == 0: + return "Uncertain" + normalized_score = score / total_weight + return "Damaging" if normalized_score >= threshold else "Neutral" + +# --------------------------- +# YAML validation +# --------------------------- +def validate_yaml(config, input_flags): + """ + Validate YAML configuration for required fields and correct structure. + + input_flags: list of str, can contain "S" for simple, "E" for ensemble + Returns: dict of {mode_name: mode_config} for all validated modes + """ + + # ------------------ Check modes key ------------------ # + if "modes" not in config or not isinstance(config["modes"], dict): + raise ValueError("YAML must contain a 'modes' dictionary with available configurations.") + + available_modes = config["modes"].keys() + + # Map input flags to mode names + flag_to_mode = {"S": "simple", "E": "ensemble"} + + # Determine which modes to validate + modes_to_validate = [] + for flag in input_flags: + if flag not in flag_to_mode: + raise ValueError(f"Unknown input flag '{flag}'") + mode_name = flag_to_mode[flag] + if mode_name not in available_modes: + raise ValueError(f"Mode '{mode_name}' indicated by flag '{flag}' not found in YAML.") + modes_to_validate.append(mode_name) + + # ------------------ Validate each selected mode ------------------ # + for mode_name in modes_to_validate: + cfg = config["modes"][mode_name] + + # --- Experimental section --- # + required_experimental_fields = [ + "experimental_column", + "experimental_column_classification", + "experimental_thresholds" + ] + for field in required_experimental_fields: + if field not in cfg: + raise ValueError(f"YAML '{mode_name}' mode must contain '{field}' in experimental section.") + + thresholds = cfg.get("experimental_thresholds", []) + if not isinstance(thresholds, list): + raise ValueError(f"'{mode_name}' mode: experimental_thresholds must be a list of numeric values.") + + # --- Comparisons section --- # + if "comparisons" not in cfg: + raise ValueError(f"YAML '{mode_name}' mode must contain 'comparisons' section.") + + for comp in cfg["comparisons"]: + if "name" not in comp: + raise ValueError(f"Each comparison in '{mode_name}' must have a 'name'.") + if "columns" not in comp or not isinstance(comp["columns"], list): + raise ValueError(f"Comparison {comp.get('name')} must have a list of 'columns'.") + + # Validate voting logic + if "voting" in comp: + voting = comp["voting"] + if "target_class" not in voting: + raise ValueError(f"Voting in {comp['name']} must have 'target_class'.") + if "logic" not in voting or voting["logic"] not in ["majority", "at_least_one", "all"]: + raise ValueError(f"Voting logic in {comp['name']} must be one of 'majority', 'at_least_one', 'all'.") + # Optional: check that fallback class exists in normalization + fallback_class = voting.get("fallback") + if fallback_class and fallback_class not in cfg.get("normalization", {}): + raise ValueError(f"Voting fallback '{fallback_class}' in {comp['name']} not defined in normalization.") + + # Validate priority logic + if "priority" in comp: + priority = comp["priority"] + if "priority_for_classification" not in priority: + raise ValueError(f"Priority in {comp['name']} must have 'priority_for_classification'.") + if not isinstance(priority["priority_for_classification"], dict): + raise ValueError(f"'priority_for_classification' in {comp['name']} must be a dictionary.") + # Optional: check that all listed columns exist + for cls, cols in priority["priority_for_classification"].items(): + for col in cols: + if col not in comp["columns"]: + raise ValueError(f"Priority column '{col}' for class '{cls}' in {comp['name']} not listed in 'columns'.") + + # Validate weighted logic + if "weighted" in comp: + weighted = comp["weighted"] + if "weights" not in weighted or not isinstance(weighted["weights"], dict): + raise ValueError(f"Weighted logic in {comp['name']} must have a 'weights' dictionary.") + + # Check che tutte le colonne nei pesi esistano nei columns + for col in weighted["weights"]: + if col not in comp["columns"]: + raise ValueError(f"Weighted column '{col}' in {comp['name']} not listed in 'columns'.") + + # Check threshold range + if "threshold" in weighted and not (0 <= weighted["threshold"] <= 1): + raise ValueError(f"Threshold in {comp['name']} weighted logic must be between 0 and 1.") + + # Check somma pesi = 1 (entro tolleranza numerica) + weight_sum = sum(weighted["weights"].values()) + if abs(weight_sum - 1.0) > 1e-6: + raise ValueError( + f"In '{comp['name']}' weighted logic, the sum of weights must be 1. " + f"Currently: {weight_sum}" + ) +# --------------------------- +# CSV columns validation +# --------------------------- + +def validate_csv_columns(df, config): + """ + Ensure all columns referenced in YAML exist in the dataframe. + """ + missing_cols = set() + + # --- Check comparison columns --- # + for comp in config["comparisons"]: + for col in comp["columns"]: + if col not in df.columns: + missing_cols.add(col) + + # Check priority columns if present + if "priority" in comp: + for col_list in comp["priority"].get("priority_for_classification", {}).values(): + for col in col_list: + if col not in df.columns: + missing_cols.add(col) + + # Check weighted columns if present + if "weighted" in comp: + for col in comp["weighted"].get("weights", {}).keys(): + if col not in df.columns: + missing_cols.add(col) + + # --- Check experimental columns --- # + if "experimental_column" in config: + if config["experimental_column"] not in df.columns: + missing_cols.add(config["experimental_column"]) + if "experimental_column_classification" in config: + if config["experimental_column_classification"] not in df.columns: + missing_cols.add(config["experimental_column_classification"]) + + # Raise error if any columns are missing + if missing_cols: + raise ValueError(f"The following columns are missing in CSV: {', '.join(missing_cols)}") + + # --- Extra check: scatter flag requires numeric experimental column --- # + if args and getattr(args, "scatter", False): + exp_col = config.get("experimental_column") + if exp_col and exp_col in df.columns: + try: + pd.to_numeric(df[exp_col], errors="raise") + except Exception: + raise ValueError( + f"--scatter flag specified but the experimental column '{exp_col}' " + f"contains non-numeric values (e.g., strings)." + ) + +# --------------------------- +# Modified main function with validation +# --------------------------- + +def process_input_files(config, selected_mode): + """ + Load, validate, normalize, and classify all input CSV files according to YAML config. + Returns a list of processed dataframes ready for downstream analysis. + """ + + processed_dfs = [] + + + available_csvs = glob.glob(f"*{selected_mode}_mode*.csv") + if not available_csvs: + print(f"No CSV files found for {selected_mode} mode. Exiting...") + exit(1) + + for csv_file in available_csvs: + fname = os.path.basename(csv_file) + m = re.match(f"(.*)-({selected_mode}_mode.*)\\.csv", fname) + if not m: + print(f"File {csv_file} name is not in the expected format. Skipping...") + continue + + protein_name = m.groups()[0] + df = pd.read_csv(csv_file) + df.insert(0, "protein", protein_name) + + # Extract mutation info + df["Mut_res"] = df["Mutation"].str[-1] + df["wt_res_position"] = df["Mutation"].str[:-1] + df["Position"] = df["Mutation"].str[1:-1].astype(int) + # Apply score classification for GEMME and DeMaSk if columns exist + for column_name, new_column_name in zip( + ["GEMME Score", "DeMaSk delta fitness"], + ["GEMME classification", "DeMaSk classification"] + ): + if column_name in df.columns: + df = score_classification(df, column_name, new_column_name) + + # Validate that all required columns exist + try: + validate_csv_columns(df, config) + except ValueError as e: + print(f"Skipping {csv_file}: {e}") + continue + + # Apply normalization of classification columns + def apply_normalization(df, cfg): + """ + Applies classification normalization to columns listed in comparisons + plus the experimental classification column. + """ + normalization_dict = cfg.get("normalization", {}) + + # Columns to normalize: all comparison columns + experimental classification + cols_to_normalize = [] + for comp in cfg.get("comparisons", []): + cols_to_normalize.extend(comp.get("columns", [])) + + exp_col_class = cfg.get("experimental_column_classification") + if exp_col_class: + cols_to_normalize.append(exp_col_class) + + # Apply normalization only to columns present in df + for col in cols_to_normalize: + if col in df.columns: + df[col] = df[col].apply(lambda v: normalize_classification(v, normalization_dict)) + + return df + df = apply_normalization(df,config) + + # Apply comparison logics + for comp in config["comparisons"]: + name = comp["name"] + cols = comp["columns"] + + if "voting" in comp: + df[f"{name}_voting"] = df.apply( + lambda row: apply_voting_logic(row, cols, comp["voting"]), axis=1 + ) + if "priority" in comp: + df[f"{name}_priority"] = df.apply( + lambda row: apply_priority_logic(row, comp["priority"]), axis=1 + ) + if "weighted" in comp: + df[f"{name}_weighted"] = df.apply( + lambda row: apply_weighted_logic(row, cols, comp["weighted"]), axis=1 + ) + + processed_dfs.append(df) + + # Merge all processed dataframes + if processed_dfs: + df_merged = pd.concat(processed_dfs, ignore_index=True) + else: + print("No valid CSVs processed. Exiting...") + exit(1) + + + return df_merged + +def get_comparison_map(df, config): + """ + Build a mapping between comparison names and the classification + logics applied to them, along with the corresponding dataframe columns. + + Example return structure: + { + "Comparison1": {"voting": "Comparison1_voting", "priority": "Comparison1_priority"}, + "Comparison2": {"weighted": "Comparison2_weighted"} + } + """ + comparison_map = {} + logic_suffixes = { + "voting": "voting", + "priority": "priority", + "weighted": "weighted" + } + + for comp in config["comparisons"]: + comp_name = comp["name"] + comparison_map[comp_name] = {} + + for logic, suffix in logic_suffixes.items(): + if logic in comp: # logic specified in YAML + col_name = f"{comp_name}_{suffix}" + if col_name in df.columns: + comparison_map[comp_name][logic] = col_name + else: + print(f"⚠️ Warning: expected column {col_name} not found in dataframe.") + + return comparison_map + + +def run_full_analysis(df_confusion_matrix, config, args, selected_mode,remove_positions=None,mutations_to_be_excluded = None): + """ + Run the full analysis pipeline: + 1. Independent GEMME/DeMaSK analysis + 2. Filtered dataset analysis for YAML-specified columns + 3. Generate confusion matrices, scatter plots, and histogram plots + """ + + experiment_column = config["experimental_column"] + experiment_column_classification = config["experimental_column_classification"] + experimental_thresholds = config["experimental_thresholds"] + + comparison_map = get_comparison_map(df_confusion_matrix,config) + + + df_confusion_matrix = df_confusion_matrix.dropna(subset=[experiment_column]) + df_confusion_matrix = df_confusion_matrix.loc[df_confusion_matrix[experiment_column_classification].isin(['Damaging', 'Neutral'])] + + # ------------------------------ + # GEMME and DeMaSK independent analysis + # ------------------------------ + for predictior_column_score, predictor_column_classification in zip( + ["GEMME Score", "DeMaSk delta fitness"], + ["GEMME classification", "DeMaSk classification"] + ): + predictor = predictior_column_score.split(" ")[0] + output_path = f"output/{selected_mode}/{predictor}_comparison/confusion_matrix" + os.makedirs(output_path, exist_ok=True) + + df_pred = df_confusion_matrix.loc[ + df_confusion_matrix[predictor_column_classification].isin(["Damaging", "Neutral"]) + ] + + labels = ["Damaging", "Neutral"] + cm = generate_confusion_matrix(df_pred, experiment_column_classification, predictor_column_classification) + plot_confusion_matrix(cm, predictor_column_classification, experiment_column_classification, output_path, args.colormap, labels=labels) + metrics(cm, predictor_column_classification, experiment_column, output_path) + df_pred = df_pred[["Mutation",predictior_column_score,predictor_column_classification,experiment_column,experiment_column_classification]] + df_pred.to_csv(f"{output_path}/confusion_matrix_data.csv",sep=",",index=False) + + if args.scatter: + for comp, logics in comparison_map.items(): + for logic, comp_col in logics.items(): + scatter_path = f"output/{selected_mode}/{predictor}_comparison/scatter_plots/{comp}/{logic}" + os.makedirs(scatter_path, exist_ok=True) + # ------------------- Confusion matrices and scatter plots ------------------- + df_comp_col = df_confusion_matrix.loc[df_confusion_matrix[comp_col].isin(['Damaging','Neutral'])].copy() + # Confusion matrix vs experiment + df_comp_col.to_csv(f"{scatter_path}/scatter_plot_data.csv", sep=",", index=False) + scatter_plot(df_comp_col, predictior_column_score, experiment_column, comp_col, scatter_path) + + + # ------------------------------ + # YAML-specified columns analysis + # ------------------------------ + for comp, logics in comparison_map.items(): + for logic, comp_col in logics.items(): + comp_output = f"output/{selected_mode}/{comp}_comparison/{logic}" + os.makedirs(comp_output, exist_ok=True) + + # ------------------------------ + # Filter dataset according to user specifications + # ------------------------------ + + # Remove positions specified in prot_pos_to_remove + if args.residues_to_exclude: + for p, pos in remove_positions: + if not ((df_confusion_matrix["protein"] == p) & (df_confusion_matrix["wt_res_position"] == pos)).any(): + print(f"Position {pos} in {p} not found in DataFrame") + mask = df_confusion_matrix.apply(lambda row: (row["protein"], row["wt_res_position"]) in remove_positions, axis=1) + df_confusion_matrix = df_confusion_matrix[~mask] + + # ------------------- Confusion matrices and scatter plots ------------------- + data_for_histogram_plot = {} + df_confusion_matrix_plot = df_confusion_matrix.copy() + # Remove Glycine/Proline if requested + for mut in mutations_to_be_excluded: + df_confusion_matrix_plot = remove_mutations(df_confusion_matrix_plot, "Mut_res", mut) + df_confusion_matrix_plot = df_confusion_matrix_plot.loc[df_confusion_matrix_plot[comp_col].isin(['Damaging','Neutral'])].copy() + # Confusion matrix vs experiment + cm_path = f"{comp_output}/confusion_matrix/" + os.makedirs(cm_path, exist_ok=True) + cm = generate_confusion_matrix(df_confusion_matrix_plot, experiment_column_classification, comp_col) + plot_confusion_matrix(cm, comp_col, experiment_column_classification, cm_path, args.colormap) + performances = metrics(cm, comp_col, experiment_column, cm_path) + data_for_histogram_plot[comp_col] = performances + divergent_classification = filter_different_rows(df_confusion_matrix_plot, + comp_col, + experiment_column_classification) + # divergent classification analysis + divergent_classification_analysis_path = f"{cm_path}/divergent_classification_analysis" + divergent_classification_neutral_path = f"{divergent_classification_analysis_path}/discordant_neutral" + divergent_classification_damaging_path = f"{divergent_classification_analysis_path}/discordant_damaging" + os.makedirs(divergent_classification_neutral_path, exist_ok=True) + os.makedirs(divergent_classification_damaging_path, exist_ok=True) + divergent_classification.to_csv(f"{divergent_classification_analysis_path}/divergent_classification.csv",sep=",") + plot_distribution_with_highlighted_mutations(df_confusion_matrix_plot, + experiment_column, + comp_col, + divergent_classification["Mutation"].tolist(), + divergent_classification_analysis_path, + experimental_thresholds = experimental_thresholds) + divergent_classification_neutral = divergent_classification.loc[divergent_classification[comp_col] == "Neutral"] + divergent_classification_damging = divergent_classification.loc[divergent_classification[comp_col] == "Damaging"] + for discordant_classification_df,output in zip([divergent_classification_neutral,divergent_classification_damging], + [divergent_classification_neutral_path,divergent_classification_damaging_path]): + if selected_mode == "simple": + accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type" + else: + accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type (average) [md]" + plot_accessibility_kde(discordant_classification_df, + accessibility_column, + 20, + output) + plot_residue_mutation_distribution(discordant_classification_df,"Mut_res","wt_res_position",output) + discordant_type = output.split("_")[-1] + discordant_classification_df.to_csv(f"{output}/discordant_classification_{discordant_type}.csv",index=False) + + + # save in csv format the data used for the confusion matrix + df_confusion_matrix_data = df_confusion_matrix_plot[["Mutation",comp_col,experiment_column,experiment_column_classification]] + df_confusion_matrix_data.to_csv(f"{cm_path}/confusion_matrix_data.csv",sep=",",index=False) + + # -- confusion matrixes of impact variant predictors for comparison with stability data -- # + + for predictor_column_score, predictor_column_classification in zip(["GEMME Score", "DeMaSk delta fitness"],["GEMME classification", "DeMaSk classification"]): + predictor = predictor_column_score.split(" ")[0] + comp_predictor_path = f"{cm_path}/predictors_confusion_matrices_for_comparison/{predictor}" + os.makedirs(comp_predictor_path, exist_ok=True) + cm = generate_confusion_matrix(df_confusion_matrix_plot,experiment_column_classification,predictor_column_classification) + plot_confusion_matrix(cm,predictor_column_classification,experiment_column_classification,comp_predictor_path,args.colormap) + performances = metrics(cm,predictor_column_classification,experiment_column,comp_predictor_path) + data_for_histogram_plot[predictor] = performances + + df_confusion_matrix_data = df_confusion_matrix_plot[["Mutation",predictor_column_score,predictor_column_classification,experiment_column,experiment_column_classification]] + df_confusion_matrix_data.to_csv(f"{comp_predictor_path}/confusion_matrix_data.csv",sep=",",index=False) + + df_for_histogram_plot = df_for_histogram_plot_creation(data_for_histogram_plot) + performance_histogram_plot(df_for_histogram_plot,cm_path,args.colormap) + + +def main(): + prot_pos_to_remove = [] + if args.residues_to_exclude: + position_to_remove = pd.read_csv(args.residues_to_exclude) + expected_cols = ["protein", "position"] + file_cols = list(position_to_remove.columns) + + if file_cols != expected_cols: + print(f"The file {args.residues_to_exclude} has columns {file_cols} "\ + f"instead of {expected_cols}. Please rename the columns to "\ + f" 'protein' and 'position'.") + exit(1) + + # regex: lettera maiuscola seguita da numeri + pattern = r"^[A-Z][0-9]+$" + + # crea colonna booleana valid/invalid + position_to_remove["valid"] = position_to_remove["position"].str.match(pattern) + + # segnala errori + errors = position_to_remove[~position_to_remove["valid"]] + + if not errors.empty: + print(f"The file {args.residues_to_exclude} contain position\s in the wrong" \ + f" format:") + print(errors[["protein", "position"]].to_string(index=False)) + exit(1) + else: + print(f"The file {args.residues_to_exclude} passed the quality check... " + f"Proceding with the rest of the analysis") + prot_pos_to_remove = list(zip(position_to_remove["protein"], position_to_remove["position"])) + + mutations_to_be_excluded = [] + for boolean,mutation in zip([args.no_glycine,args.no_proline],["G","P"]): + if boolean: + mutations_to_be_excluded.append(mutation) + + if not args.simple and not args.ensemble: + print("Please specify for which mode (simple or ensemble) the analyis should be performed...") + exit(1) + + # ---------------------------- Input files parsing ------------------------ # + selected_modes = [] + input_flags = [] + if args.simple: + selected_modes.append('simple') + input_flags.append("S") + if args.ensemble: + selected_modes.append('ensemble') + input_flags.append("E") + + for mode in selected_modes: + # Load YAML configuration + with open(args.yaml, 'r') as f: + config = yaml.safe_load(f) + validate_yaml(config,input_flags) + config = config["modes"][mode] + + # ---------------------- process input file --------------------------- # + df_merged = process_input_files(config,mode) + # ------------------------ plots the result --------------------------- # + run_full_analysis(df_merged,config,args,mode,prot_pos_to_remove,mutations_to_be_excluded) + +parser=argparse.ArgumentParser(description = 'exp_vs_pred_plot.py is a script designed for generating\ + scatter plots and confusion_matrixes. It visualizes prediction data \ + obtained from pathogenicity classifiers against \ + experimental data to assess the effects of variants and create confusion \ + matrixes comparing the Stability classification of MAVISp and \ + pathogenicty predictors (GEMME and DeMaSk) classifications with the experimental\ + data (considered as golden standard)') + +parser.add_argument("-E","--ensemble", + dest="ensemble", + default=False, + action="store_true", + help="choose to plot only the data"\ + " from the ensemble mode") + +parser.add_argument("-S","--simple", + dest="simple", + default=False, + action="store_true", + help="choose to plot only the data"\ + " from simple mode") + +parser.add_argument("-y","--config_yaml", + dest="yaml", + type=str, + required = True, + help="config file with the columns to plot") + + +parser.add_argument("-rg","--remove_glycine", + dest="no_glycine", + action="store_true", + required = False, + default = False, + help="Choose whether to exclude mutations to "\ + "glycine when generating confusion "\ + "matrices for comparing predictions "\ + "from MAVISp stability modules with "\ + "experimental data.") + +parser.add_argument("-rp","--remove_prolines", + dest="no_proline", + action="store_true", + required = False, + default = False, + help="Choose whether to exclude mutations to "\ + "proline when generating confusion "\ + "matrices for comparing predictions "\ + "from MAVISp stability modules with "\ + "experimental data.") + +parser.add_argument("-rr","--remove_residues", + dest="residues_to_exclude", + required = False, + help="CSV file containing a list of positions "\ + " (in P63 format) to be excluded; mutations " \ + " mapped to these positions will be filtered out.") + +parser.add_argument("-sp","--scatter_plot", + dest = "scatter", + action = "store_true", + required = False, + default = False, + help = "Include a scatter plot of the experimental data,"\ + " in which the threshold that defines the "\ + "classifications is highlighted.") + + +parser.add_argument("-c", "--colormap", + dest="colormap", + default="viridis", + help = f"choose the colormap for the histograms and confusion matrices plots: \ + {', '.join(plt.colormaps())}. Default: viridis") + + +args=parser.parse_args() + +if __name__ == "__main__": + main() + + + + + + + + + + + + + + diff --git a/tools/MAVISpBenchmark/README.md b/tools/MAVISpBenchmark/README.md new file mode 100644 index 0000000..16d55fd --- /dev/null +++ b/tools/MAVISpBenchmark/README.md @@ -0,0 +1,642 @@ +# MAVISpBenchmark.py + +MAVISpBenchmark.py provides a comprehensive framework for analyzing and comparing MAVISp classifications and variant effect predictors (currently GEMME and DeMaSK) against experimental data. The script can operate either by using MAVISp classification columns directly or by combining multiple columns to generate ensemble classifications. The combination logic is fully configurable through a YAML file, which supports three alternative approaches—voting, priority, and weighted schemes—allowing for a flexible and detailed classification system tailored to specific analytical needs. + +As output, the pipeline produces informative plots and performance metrics for DeMaSK and GEMME individually, evaluates MAVISp’s classification performance, and enables direct comparison of DeMaSK and GEMME on MAVISp-filtered datasets. In addition, it analyzes mutations with divergent classifications, highlighting discrepancies between predictor outputs and experimental reference data. + +## Description + +The script accepts as input one or multiple mavisp.csv files, in either simple or ensemble mode, along with a configuration file (config.yaml) that specifies the analysis mode and required parameters. Optional flags can be used to: + +include or exclude proline and glycine residues, + +specify a colormap for histograms and confusion matrices, + +exclude specific residues through a dedicated file when structural problems prevent reliable MAVISp calculations. + +The script first verifies that all required inputs (CSV, configuration, and mode) are provided and validates the format of any optional exclusion file. The configuration file defines which columns should be analyzed and plotted. One column must contain the binary experimental classification (Damaging or Neutral), either derived directly from experimental scores or from a threshold-based classification. If continuous scores are provided, the corresponding threshold(s) must also be specified. + +The configuration further defines normalization rules, mapping predictor-specific outputs into standardized categories (Damaging, Neutral, or Uncertain). It also specifies which MAVISp column(s) should be compared—either single columns or combined sets—along with the classification scheme to be applied. A validation step ensures consistency between the configuration and the input CSV file. + +After error handling, the script merges and organizes CSV files according to the selected mode (simple or ensemble) and begins processing. GEMME and DeMaSK scores are normalized according to predefined thresholds: + +**DeMaSK** + +- Damaging: score < -0.25 or score > 0.25 (loss/gain of function) + +- Neutral: -0.25 ≤ score ≤ 0.25 + +**GEMME** + +- Damaging: score < -3 or score > 3 + +- Neutral: -3 ≤ score ≤ 3 + +Additional normalization is performed based on the rules defined in config.yaml. A new classification column is then generated, either from a single MAVISp column or from the combination of multiple columns according to the specified scheme. + +Subsequently, the script compares GEMME, DeMaSK, and MAVISp classifications against experimental data, after removing classifications that are not labeled as Damaging or Neutral in both the experimental classification column and the predictor column being compared, generating several types of plots. + +### Confusion Matrices + +Three confusion matrices are generated: + +- Comparing GEMME and DeMaSK classifications with experimental data (gold standard). + +- Comparing MAVISp classification (single or combined column, as specified in the config) with experimental data. + +- Comparing GEMME and DeMaSK classifications with experimental data on a subset of variants used in the MAVISp–experiment comparison (excluding variants labeled as “Uncertain” by MAVISp). This enables direct performance comparison across MAVISp, GEMME, and DeMaSK. + +For each comparison, the script also saves the underlying data to confusion_matrix_data.csv. + +Classification criteria: + +**True Positive (TP)**: Damaging according to predictor/MAVISp and confirmed as Damaging experimentally. + +**True Negative (TN)**: Neutral according to predictor/MAVISp and confirmed as Neutral experimentally. + +**False Positive (FP)**: Damaging according to predictor/MAVISp but Neutral experimentally. + +**False Negative (FN)**: Neutral according to predictor/MAVISp but Damaging experimentally. + +From these values, the script computes standard performance metrics (saved in metrics.csv): + +**Sensitivity**: TP / (TP + FN) + +**Specificity**: TN / (TN + FP) + +**Accuracy**: (TP + TN) / (TP + TN + FP + FN) + +**Precision**: TP / (TP + FP) + +**F1 Score**: 2 × (Precision × Sensitivity) / (Precision + Sensitivity) + +### Scatter Plots + +For each MAVISp column specified in the configuration, the script plots GEMME or DeMaSK scores (x-axis) against experimental scores (y-axis), with points colored by MAVISp classification. Spearman correlation coefficients are reported to quantify the relationship between predictor scores and experimental data. Plot data is saved in scatter_plot_data.csv. The plots are saved in the same location of the first the confusion matrix (see section above and output section below) + +### Histograms of Performance + +An Histograms are generated from the results of the second and third confusion matrices (see section above), allowing direct comparison of predictor performance across the same variant datasets. + +### Distribution Plots and Hisotgrams plots of aminoacid composition + +The script identifies mutations where MAVISp classifications diverge from experimental data, saving them in divergent_classifications.csv. +By leveraging this dataset, divergent mutations are visualized on distribution plots of the experimental data. The experimental threshold is shown as a vertical dashed line. Two additional CSV files are produced from divergent_classifications.csv: + +discordant_classification_neutral.csv containing divergent Neutral mutations (experimentally Neutral, classified Damaging by MAVISp), + +discordant_classification_damaging.csv divergent Damaging mutations (experimentally Damaging, classified Neutral by MAVISp). + +For each subset, the script generates: + +Histograms of amino acid residues: showing the percentage distribution of residues involved in the dataset of discordant mutations. Two perspectives are considered: +(i) wild-type residues, to identify which amino acids are most frequently affected by discordant classifications when mutated; +(ii) mutant residues, to highlight which amino acids, when introduced as mutations, are most often associated with discordant classifications. + +Distribution plots of solvent accessibility values: assessing whether discordant classifications preferentially occur in mutations located on solvent-exposed or buried residues. + +Histograms of amino acid class types: showing the percentage distribution of chemical classes in the dataset of discordant mutations. Again, both wild-type residues (to identify which classes are most frequently affected when mutated) and mutant residues (to determine which classes are most often associated with discordant classifications) are analyzed. + +## Requirements + +Python >= 3.8 + +Packages: + +- pandas +- numpy +- matplotlib +- seaborn +- scipy +- scikit-learn +- pyyaml + +## Input + +The script accepts MAVISp CSV files in either simple or ensemble mode, along with a YAML configuration file. The configuration specifies the two columns to be plotted and includes a section defining normalization rules, which map predictor-specific outputs into standardized categories (Damaging, Neutral, or Uncertain). It also indicates which MAVISp column(s) should be compared—either individual columns or combined sets—together with the classification scheme to be applied. + +### Config file + +The config file has the following structure: + +``` +modes: + : # e.g., "simple" or "ensemble + experimental_column: + experimental_column_classification: + experimental_thresholds: # not need in case of classification in experimental_column + normalization: + Damaging: # all labels considered "Damaging" + Neutral: # all labels considered "Neutral" + Uncertain: # all labels considered "Uncertain" + comparisons: + - name: + columns: + priority: + class_order: ["Damaging", "Neutral", "Uncertain"] + priority_for_classification: + Damaging: # columns used to classify Damaging + Neutral: # columns used to classify Neutral + Uncertain: # columns used to classify Uncertain + weighted: # optional, if using weighted classification + weights: + : + ... + threshold: + voting: # optional, if using voting logic + target_class: # e.g., "Damaging" + logic: # e.g., "majority", "at_least_one" or "all" + fallback: # fallback class + handle_uncertain: # e.g., "return_uncertain", "as_fallback" + - name: + ... + # additional comparisons possible +``` +Here an explanation of all the fields: + +#### modes +This field can only take the values simple or ensemble, depending on the MAVISp CSV file of interest. If the analysis is to be performed on both simple and ensemble MAVISp CSV files, the configuration file must include two separate sections (one for simple and one for ensemble), each specifying the appropriate columns of interest for the corresponding file type. + +#### experimental_column +The column name containing the raw scores from the experimental assay. + +#### experimental_column_classification +The column name containing the categorical classification derived from the experimental assay. + +#### experimental_thresholds +A list of thresholds used to map the values in the experimental_column into categories in the experimental_column_classification column. These thresholds are also displayed on the distribution plot to provide a clearer indication of where the Damaging and Neutral classifications are located. + +#### normalization + +This field defines the rules for mapping predictor-specific and experimental outputs into standardized categories (Damaging, Neutral, or Uncertain). This normalization ensures that all classifications provided in the MAVISp CSV file are harmonized before performing the analysis. + +The field is structured as follows: + +``` +Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" +Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" +Uncertain: + - "Uncertain" + - "uncertain" +``` + +The keys (Damaging, Neutral, Uncertain) represent the standardized categories that will replace the corresponding values found in the columns specified in the configuration file, as well as in the GEMME and DeMaSK classification columns, for both MAVISp module columns and the experimental classification column. +The values listed under each key must include all possible labels that should be converted into that standardized category for the column of interest. + +#### comparisons + +This section includes the column that needs to be comapred aginst the expeirmental data (a part form the GEMME and DeMaSK columns that will be peroformed automatically). +The comparison can include as much as comparisons desisred, so potentially it woule be possible ot perofrm several comaprison against experimental data in one run. In order to perofrm a comaprisn the follwoing information must be provided: + +##### name + +The name of the output column that will be used to generate legend titles, axis labels, and output folder paths. It should be as informative as possible about the column’s content, while remaining concise to avoid excessively long labels in plots and folder names. The output CSV file generated from it will include an additional column named after this field, containing the classification used for the comparison. + +##### columns +A list of one or more columns from the MAVISp CSV file to be used for the comparison. +It can be used in two ways: + + - **one column** Only the classification from that column will be used for the comparison. An additional column (named after the field 'name') will be created containing the same classification. + + + - **multiple columns** If multiple columns are specified, they will be combined into a new column (named after the field 'name') using the classification system defined below. This combined classification will then be compared against the experimental column + +##### classification system + +This section must be specified below the columns field. The script will apply one of the classification systems to the columns listed in columns, generating a combined classification under the new column specified in the name field. If only one column is specified, the new column will simply replicate its classification. Three classification schemes are available and are described below. + +###### priority + +The priority logic assigns a classification based on a defined order of precedence. + +- class_order: a list specifying the order of classifications to consider. For each mutation, the script first checks whether any of the columns contain the first classification in the list. + +- priority_for_classification defines, for each classification, which columns have priority over others. The order is determined by the list. The script checks the first column in the priority list for the desired classification, then the next, and so on. If none of the specified columns contain the classification, the result is set to "Uncertain". + +Example +``` +priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] +``` + +In this example, the script first looks for "Damaging" in "GEMME classification". If present, it assigns "Damaging". If not, it checks "Stability classification, alphafold, (RaSP, FoldX)". If not found, it then checks for "Neutral" in "GEMME classification" and subsequently in "Stability classification, alphafold, (RaSP, FoldX)". + +###### weighted + +The weighted logic works by assigning: + +- weights: each column listed in columns must be assigned a weight. The sum of all weights must equal 1, otherwise an error is raised.A weighted score is calculated by summing the weights of all columns classified as "Damaging" and normalizing by the total weight. +It Returns +"Damaging" if normalized score ≥ threshold +"Neutral" if below threshold +"Uncertain" if total weight = 0 + +- threhsold: the cutoff value used to assign "Damaging". + +###### voting + +the voting logic works by assigning: + +- target_class: the classification that this system will evaluate. + +- logic: defines the rule for assigning the classification in target_class. Possible options are: + - *majority*: if the majority of columns match the target_class, it is assigned. + - *at_least_one*: if at least one column matches the target_class, it is assigned. + - *all*: if all columns match the target_class, it is assigned. + + - fallback: the classification to assign if the logic defined above is not met. + + - handle_uncertain: specifies how to classify if all columns are "Uncertain". Options are: + + - *as_fallback*: return the classification defined in fallback + - *ignore*: skip the assignment + - *return_uncertain*: return "Uncertain". + +N.B: +- Multiple names (column combinations) can also be defined with different configurations. The script will process each accordingly, saving results in the corresponding folders. +- Multiple classification systems can be defined for the same column combination (name). For each system, the script will perform the appropriate analysis and save the results in dedicated folders. + + Here an example of config file: + +``` +modes: + ensemble: + experimental_column: "Experimental data (VAMP-seq, Stability (MAVEdb))" + experimental_column_classification: "Experimental data classification (VAMP-seq, Stability (MAVEdb))" + experimental_thresholds: [1, 2, 3, 4] + normalization: + Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" + Uncertain: + - "Uncertain" + - "uncertain" + comparisons: + - name: "RaSP-FoldX_consensus_md" + columns: ["Stability classification, (RaSP, FoldX) [md]"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["Stability classification, (RaSP, FoldX) [md]"] + Neutral: ["Stability classification, (RaSP, FoldX) [md]"] + + simple: + experimental_column: "Experimental data (VAMP-seq, Stability (MAVEdb))" + experimental_column_classification: "Experimental data classification (VAMP-seq, Stability (MAVEdb))" + experimental_thresholds: [1, 2, 3, 4] + normalization: + Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" + Uncertain: + - "Uncertain" + - "uncertain" + comparisons: + - name: "Rosetta-FoldX_consensus_with_GEMME" + columns: ["Stability classification, alphafold, (Rosetta, FoldX)", "GEMME classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + - name: "Rosetta-FoldX_consensus_with_DeMaSK" + columns: ["Stability classification, alphafold, (Rosetta, FoldX)", "DeMaSk classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["DeMaSk classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + Neutral: ["DeMaSk classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + - name: "RaSP-FoldX_consensus_with_GEMME" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "GEMME classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + - name: "RaSP-FoldX_consensus_with_DeMaSK" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "DeMaSk classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)"] +``` +The script must be run with the following flags: + +**-S --simple** Selects the CSV files generated in MAVISp simple mode. + +**-E --ensemble** Selects the CSV files generated in MAVISp ensemble mode. + +**-y --config_yaml** Specifies the configuration file containing the parameters required to run the analysis (see below). + +Optional flags can be provided to customize the analysis: + +**-c --colormap** Specifies the colormap for histograms and confusion matrix plots. Default: viridis. + +**-rg --remove_glycine** Excludes mutations to glycine when generating confusion matrices that compare predictions from MAVISp stability modules with experimental data. + +**-rp --remove_proline** Excludes mutations to proline when generating confusion matrices that compare predictions from MAVISp stability modules with experimental data. + +**-sp --scatter_plot** Includes a scatter plot of the experimental data, highlighting the threshold used to define classifications. + +**-rr --remove_residues** Excludes specific residues listed in a dedicated file, useful in cases where structural issues prevent reliable MAVISp calculations. + + +N.B The -sp flag can only be used if the experimental_column in the input file contains numerical scores from the experimental assay. Do not use this flag if the column contains categorical data (e.g., experimental classifications). + +N.B If the experimental_column contains categorical (non-numerical) values, such as classifications derived from experimental results, scatter plots and distribution plots will not be generated, and the experimental_thresholds key will not be required. In this case, the -sp flag is unnecessary. + +### File to exclude residues from the analysis +The -rr flag can be used to provide a csv file specifying residues that should be excluded from the entire analysis (MAVISp column comparisons). The file must contain the following columns: + +**protein** The name of the protein, which must match the identifiers used in the MAVISp CSV file. This ensures that, when processing multiple files, the script can uniquely identify which mutations belong to each protein. + +**position** The residue position to be excluded. All mutations affecting this position will be removed from the analysis. + +Here is an example of a remove_residues file: + +|protein|position| +|-------|--------| +|MLH1|E34| +|MLH1|C39| +|MLH1|N38| + +## Output + +The script generates an output directory called *output* containing one subfolder for each MAVISp mode (simple, ensemble, or both). Inside each subfolder, the following results are produced: + +### Variant effect predicitors vs experimental data comparison + +The output directory for variant effect predictors is structured as follow *classifier_comparison/confusion_matrix/* where: +**classifier_comparison** is the classifier method under investigation (GEMME or DeMaSK) + +This folder contains the + +- confusion_matrix_data.csv dataset used to make the confusion matrix + +- confusion_matrix.pdf/png confusion matrix obtained by comparing the predictor of variant effects with the experimental data + +- metrics.csv csv file containing the performances obtained from the comparison (see description section for a detailed explanation of the content) + +Here an example of metrics.csv + +Below is an example of the output files: + +|sensitivity|specificity|accuracy|precision|F1 score| +|-----------|-----------|--------|---------|--------| +|0.567|0.937|0.817|0.81|0.667| + +If the -sp flag is activated, an additional output directory is generated with the following structure: +*classifier_comparison*/scatter_plots/mavisp_column/classification_system/ where: + +**classifier_comparison** is the classifier method under investigation + +**mavisp_column** is the MAVISp column specified in the config file under the name field + +**classification_system** corresponds to the classification scheme specified in the config file + +This folder contains: + +- scatter_plot_data.csv. dataset used to make the scatter plot + +- scatter_plot.pdf/png scatter plots comparing the predictor of variant effects with the experimental data + + +### MAVISp columns vs experimental data comparison + +The output directory is structured as *mavisp_column/classification_system/*, where: + +**mavisp_column** is the column specified in the config file under the *name* field (a folder is created for each entry in the config file). + +**classification_system** is the classification scheme defined for that column (if multiple are specified, multiple folders with the appropriate analyses will be generated). + +Each folder contains: + +- confusion_matrix_data.csv dataset used to generate confusion matrices for MAVISp columns compared with experimental data + +- confusion_matrix.pdf/png confusion matrix obtained by comparing the mavisp effects with the experimental data + +- metrics.csv file containing the performances obtained from the comparison (see description section for a detailed explanation of the content) + + +### Variant effect predictiors on MAVISp dataset vs experimental data + +Inside each *mavisp_column/classification_system/* folder, there is a subfolder called: + +*predictors_confusion_matrices_for_comparison/* +This contains two subfolders: +- GEMME +- DeMaSK +Each includes the confusion matrix and metrics of the corresponding variant effect predictor, applied to the dataset used for the MAVISp column analysis (*mavisp_column/classification_system/confusion_matrix_data.csv*). + +This enables a direct comparison between MAVISp and the variant effect predictors on the same experimental dataset. +Additionally, a histogram plot is generated (histogram_plot.pdf and histogram_plot.png) summarizing the metrics from MAVISp and from GEMME/DeMaSK comparisons. This is stored in *mavisp_column/classification_system/*. + +### analysis of divergent classifications + +Inside each *mavisp_column/classification_system/* folder, there is also a subfolder (*divergent_classifications*) designed to collect analyses of mutations with divergent classifications between predictors and experimental data: + +This directory contains two subfolders: + +**discordant_neutral** containing the analysis on mutations classified as Neutral by the predictor (MAVISp column) but Damaging by experimental data +**discordant_damaging** containing the analysis on mutations classified as Damaging by the predictor but Neutral by experimental data + +Each folder contains the following: + +- A CSV file listing the discordant mutations + +- divergent_classification_accessibility.pdf/png distribution of solvent accessibility values for discordant mutations + +- divergent_classification_aminaocid_distribution.pdf/png percentage distribution of residues involved in the discordant dataset + +- divergent_classification_aminoacid_class.pdf/png percentage distribution of amino acid chemical classes in the discordant dataset + +Here an example of the output structure tree: + +``` +└── simple + ├── DeMaSk_comparison + │ ├── confusion_matrix + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ └── metrics.csv + │ └── scatter_plots + │ ├── RaSP-FoldX_consensus_with_DeMaSK_local + │ │ ├── priority + │ │ │ ├── scatter_plot_data.csv + │ │ │ ├── scatter_plot.pdf + │ │ │ └── scatter_plot.png + │ │ ├── voting + │ │ │ ├── scatter_plot_data.csv + │ │ │ ├── scatter_plot.pdf + │ │ │ └── scatter_plot.png + │ │ └── weighted + │ │ ├── scatter_plot_data.csv + │ │ ├── scatter_plot.pdf + │ │ └── scatter_plot.png + │ └── RaSP-FoldX_consensus_with_GEMME_local + │ └── priority + │ ├── scatter_plot_data.csv + │ ├── scatter_plot.pdf + │ └── scatter_plot.png + ├── GEMME_comparison + │ ├── confusion_matrix + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ └── metrics.csv + │ └── scatter_plots + │ ├── RaSP-FoldX_consensus_with_DeMaSK_local + │ │ ├── priority + │ │ │ ├── scatter_plot_data.csv + │ │ │ ├── scatter_plot.pdf + │ │ │ └── scatter_plot.png + │ │ ├── voting + │ │ │ ├── scatter_plot_data.csv + │ │ │ ├── scatter_plot.pdf + │ │ │ └── scatter_plot.png + │ │ └── weighted + │ │ ├── scatter_plot_data.csv + │ │ ├── scatter_plot.pdf + │ │ └── scatter_plot.png + │ └── RaSP-FoldX_consensus_with_GEMME_local + │ └── priority + │ ├── scatter_plot_data.csv + │ ├── scatter_plot.pdf + │ └── scatter_plot.png + ├── RaSP-FoldX_consensus_with_DeMaSK_local_comparison + │ ├── priority + │ │ └── confusion_matrix + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ ├── distribution_plot.pdf + │ │ ├── distribution_plot.png + │ │ ├── divergent_classifications.csv + │ │ ├── histogram_plot.pdf + │ │ ├── histogram_plot.png + │ │ ├── metrics.csv + │ │ └── predictors_confusion_matrices_for_comparison + │ │ ├── DeMaSk + │ │ │ ├── confusion_matrix_data.csv + │ │ │ ├── confusion_matrix.pdf + │ │ │ ├── confusion_matrix.png + │ │ │ └── metrics.csv + │ │ └── GEMME + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ └── metrics.csv + │ ├── voting + │ │ └── confusion_matrix + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ ├── distribution_plot.pdf + │ │ ├── distribution_plot.png + │ │ ├── divergent_classifications.csv + │ │ ├── histogram_plot.pdf + │ │ ├── histogram_plot.png + │ │ ├── metrics.csv + │ │ └── predictors_confusion_matrices_for_comparison + │ │ ├── DeMaSk + │ │ │ ├── confusion_matrix_data.csv + │ │ │ ├── confusion_matrix.pdf + │ │ │ ├── confusion_matrix.png + │ │ │ └── metrics.csv + │ │ └── GEMME + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ └── metrics.csv + │ └── weighted + │ └── confusion_matrix + │ ├── confusion_matrix_data.csv + │ ├── confusion_matrix.pdf + │ ├── confusion_matrix.png + │ ├── distribution_plot.pdf + │ ├── distribution_plot.png + │ ├── divergent_classifications.csv + │ ├── histogram_plot.pdf + │ ├── histogram_plot.png + │ ├── metrics.csv + │ └── predictors_confusion_matrices_for_comparison + │ ├── DeMaSk + │ │ ├── confusion_matrix_data.csv + │ │ ├── confusion_matrix.pdf + │ │ ├── confusion_matrix.png + │ │ └── metrics.csv + │ └── GEMME + │ ├── confusion_matrix_data.csv + │ ├── confusion_matrix.pdf + │ ├── confusion_matrix.png + │ └── metrics.csv + └── RaSP-FoldX_consensus_with_GEMME_local_comparison + └── priority + └── confusion_matrix + ├── confusion_matrix_data.csv + ├── confusion_matrix.pdf + ├── confusion_matrix.png + ├── distribution_plot.pdf + ├── distribution_plot.png + ├── divergent_classifications.csv + ├── histogram_plot.pdf + ├── histogram_plot.png + ├── metrics.csv + └── predictors_confusion_matrices_for_comparison + ├── DeMaSk + │ ├── confusion_matrix_data.csv + │ ├── confusion_matrix.pdf + │ ├── confusion_matrix.png + │ └── metrics.csv + └── GEMME + ├── confusion_matrix_data.csv + ├── confusion_matrix.pdf + ├── confusion_matrix.png + └── metrics.csv +``` + +## Usage + +``` +module load python/3.10/modulefile +python MAVISpBenchamrk.py -S -E -y config.yaml -sp -rr residue_to_exlude.csv +``` + +To run the analysis in the example folder: + +``` +bash run.sh +``` \ No newline at end of file diff --git a/tools/MAVISpBenchmark/config.yaml b/tools/MAVISpBenchmark/config.yaml new file mode 100644 index 0000000..8be6dd7 --- /dev/null +++ b/tools/MAVISpBenchmark/config.yaml @@ -0,0 +1,44 @@ +modes: + : # "simple" or "ensemble + experimental_column: "experimental data column" + experimental_column_classification: "experimental classification column" + experimental_thresholds: [] # not need in case of classification in experimental_column leave it empty + normalization: + Damaging: # all labels considered "Damaging" + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: # all labels considered "Neutral" + - "Neutral" + - "neutral" + - "Benign" + - "benign" + - "stabilizing" + - "Stabilizing" + Uncertain: # all labels considered "Uncertain" + - "Uncertain" + - "uncertain" + comparisons: + - name: "name_of_the_combined_column" + columns: ["column_name_1","column_name_2","column_name_3"..] + priority: + class_order: ["Damaging", "Neutral", "Uncertain"] + priority_for_classification: + Damaging: ["column_name_1","column_name_2"..] # columns used to classify Damaging + Neutral: ["column_name_1","column_name_2"..] # columns used to classify Neutral + Uncertain: ["column_name_1","column_name_2"..] # columns used to classify Uncertain + weighted: # optional, if using weighted classification + weights: + : + ... + threshold: + voting: # optional, if using voting logic + target_class: # e.g., "Damaging" + logic: # e.g., "majority", "at_least_one" or "all" + fallback: # fallback class + handle_uncertain: # e.g., "return_uncertain", "as_fallback" + - name: + ... diff --git a/tools/MAVISpBenchmark/example/MLH1-simple_mode.csv b/tools/MAVISpBenchmark/example/MLH1-simple_mode.csv new file mode 100644 index 0000000..39d8ce1 --- /dev/null +++ b/tools/MAVISpBenchmark/example/MLH1-simple_mode.csv @@ -0,0 +1,11325 @@ +Mutation,HGVSp,HGVSg,gnomAD genome allele frequency,gnomAD exome allele frequency,REVEL score,Mutation sources,Pfam domain classification,"Stability (FoldX5, alphafold, kcal/mol)","Stability (Rosetta Cartddg2020, alphafold, kcal/mol)","Stability (RaSP, alphafold, kcal/mol)","Stability classification, alphafold, (Rosetta, FoldX)","Stability classification, alphafold, (RaSP, FoldX)",EFoldMine - part of early folding region,EFoldMine score,"Local Int. (Binding with PMS2_AFmulti, heterodimer, FoldX5, kcal/mol)","Local Int. (Binding with BLM_4FMNb_3RBNab_modeller, heterodimer, FoldX5, kcal/mol)","Local Int. (Binding with MSH3_AFmulti_Huri, heterodimer, FoldX5, kcal/mol)","Local Int. (Binding with PMS2_AFmulti, heterodimer, Rosetta Talaris 2014, kcal/mol)","Local Int. (Binding with BLM_4FMNb_3RBNab_modeller, heterodimer, Rosetta Talaris 2014, kcal/mol)","Local Int. (Binding with MSH3_AFmulti_Huri, heterodimer, Rosetta Talaris 2014, kcal/mol)",Local Int. classification (MSH3_AFmulti_Huri),Local Int. classification (PMS2_AFmulti),Local Int. classification (BLM_4FMNb_3RBNab_modeller),Relative Side Chain Solvent Accessibility in wild-type,PTMs,is site part of phospho-SLiM,PTM residue SASA (%),"Change in stability with PTM (FoldX5, kcal/mol)",PTM effect in regulation,PTM effect in stability,PTM effect in function,AlloSigma2 mutation type,AlloSigma2 predicted consequence - cofactor sites,AlloSigma2 predicted consequence - pockets and interfaces,Functional sites (cofactor),ClinVar Variation ID,ClinVar Interpretation,ClinVar Review Status,AlphaFold2 model pLDDT score,AlphaFold2 model secondary structure,DeMaSk delta fitness,DeMaSk Shannon entropy,DeMaSk log2 variant frequency,DeMaSk predicted consequence,GEMME Score,GEMME Score (rank-normalized),EVE score,EVE classification (25% Uncertain),AlphaMissense pathogenicity score,AlphaMissense classification,"Experimental data (Y2H assay, Interaction_PMS2 (MAVEdb))","Experimental data classification (Y2H assay, Interaction_PMS2 (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))",References +S2A,NP_000240:p.Ser2Ala,,,,,"saturation,clinvar",,-0.17318,0.05476,0.1967625188404181,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,-,uncertain,uncertain,neutral,864552,Uncertain significance,2,47.73,-,-0.0724,1.1389,-2.0,loss_of_function,-0.0098418657685599,0.9720938141809081,,,0.0639,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2C,NP_000240:p.Ser2Cys,,,,,saturation,,-0.23817,0.30748,0.7193112897918241,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2131,1.1389,-19.6801,loss_of_function,-0.308406882185388,0.935235673320937,,,0.1367,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2D,NP_000240:p.Ser2Asp,,,,,saturation,,-0.34281,-0.52483,-0.2572814047980204,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2613,1.1389,-19.6801,loss_of_function,-0.412394160794093,0.9223983429176531,,,0.3904,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2E,NP_000240:p.Ser2Glu,,,,,saturation,,-0.95512,-0.5102,-0.3492177019280906,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.1667,1.1389,-6.3922,loss_of_function,-0.319187186251637,0.9339048343279573,,,0.4937,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2F,NP_000240:p.Ser2Phe,,,,,saturation,,-0.40831,0.05578,-0.397108262139188,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2407,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.2738,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2G,NP_000240:p.Ser2Gly,,,,,saturation,,0.06247,1.08673,0.6624997298426216,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,47.73,-,-0.1718,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.0972,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2H,NP_000240:p.Ser2His,,,,,saturation,,0.03523,-0.21939,-0.4359499199858291,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2419,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.4084,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2I,NP_000240:p.Ser2Ile,,,,,saturation,,-0.32038,-0.4051,-0.2924398153475932,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2438,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.3574,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2K,NP_000240:p.Ser2Lys,,,,,saturation,,-0.42748,-0.46701,-0.0685869078833939,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2512,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.6918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2L,NP_000240:p.Ser2Leu,"hg19,3:g.37035043C>T, hg38,3:g.36993552C>T",,2.78354368971e-05,0.480,"cBioPortal,COSMIC,saturation,clinvar",,-0.32117,-0.53265,-0.515973053883027,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,182533,Uncertain significance,2,47.73,-,-0.2401,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.281,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2M,NP_000240:p.Ser2Met,,,,,saturation,,-0.20494,0.18537,-0.0845282879054332,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2111,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.408,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2N,NP_000240:p.Ser2Asn,,,,,saturation,,-0.19078,-0.63469,-0.1225091230789954,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.1849,1.1389,-19.6801,loss_of_function,-0.252343773372276,0.9421567184804833,,,0.2041,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2P,NP_000240:p.Ser2Pro,,,,,saturation,,-0.44294,-0.6102,0.4321065422901216,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2483,1.1389,-6.3922,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.1299,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2Q,NP_000240:p.Ser2Gln,,,,,saturation,,-0.43628,-0.3068,0.0460408729982014,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2046,1.1389,-19.6801,loss_of_function,-0.412394160794093,0.9223983429176531,,,0.481,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2R,NP_000240:p.Ser2Arg,,,,,saturation,,-0.15678,-0.13469,-0.2148118238766083,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2565,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.6291,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2T,NP_000240:p.Ser2Thr,,,,,saturation,,-0.24578,-0.33571,-0.0384925760222965,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,neutral,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.0804,1.1389,-5.3923,loss_of_function,-0.246612289447179,0.9428642757301008,,,0.1081,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2V,NP_000240:p.Ser2Val,,,,,saturation,,-0.18139,-0.45782,-0.185227274634987,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2181,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.2932,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2W,NP_000240:p.Ser2Trp,"hg19,3:g.37035043C>G",,,0.585,"cBioPortal,saturation,clinvar",,-0.28211,0.0602,-0.7076611051382137,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,damaging,neutral,uncertain,UP,neutral,neutral,neutral,1310967,Uncertain significance,1,47.73,-,-0.2504,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.4892,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S2Y,NP_000240:p.Ser2Tyr,,,,,saturation,,-0.34026,-0.09354,-0.370432146031811,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,105.0,P,False,105.0,-0.02,uncertain,neutral,uncertain,UP,neutral,neutral,neutral,,,,47.73,-,-0.2455,1.1389,-19.6801,loss_of_function,-0.462442969827795,0.9162197688992471,,,0.2748,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3A,NP_000240:p.Phe3Ala,,,,,saturation,,0.19343,0.72653,0.4260422575552386,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.1874,1.9211,-5.5545,loss_of_function,-0.0319509591273174,0.9693644251617819,,,0.0945,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3C,NP_000240:p.Phe3Cys,,,,,saturation,,2.11512,1.50884,1.0069292972485475,Uncertain,Uncertain,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2284,1.9211,-19.8423,loss_of_function,-0.171703467031313,0.952111842512687,,,0.1109,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3D,NP_000240:p.Phe3Asp,,,,,saturation,,-0.13218,0.45918,0.0649179981001435,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.3833,1.9211,-19.8423,loss_of_function,-0.17370745690742,0.9518644480187776,,,0.3677,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3E,NP_000240:p.Phe3Glu,,,,,saturation,,-0.47157,0.53537,0.061092665397136,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.3526,1.9211,-19.8423,loss_of_function,-0.143490506799263,0.955594759817566,,,0.3954,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3G,NP_000240:p.Phe3Gly,,,,,saturation,,1.97612,1.36735,0.6878516559033515,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2278,1.9211,-6.5545,loss_of_function,-0.234089367559027,0.9444102425833892,,,0.2008,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3H,NP_000240:p.Phe3His,,,,,saturation,,0.31869,0.38231,-0.0753321653849092,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2879,1.9211,-19.8423,loss_of_function,-0.0994600849077046,0.9610303581059378,,,0.2602,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3I,NP_000240:p.Phe3Ile,,,,,saturation,,0.44558,0.59694,-0.0056778130686602,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2042,1.9211,-19.8423,loss_of_function,-0.0179334561598767,0.9710948994989282,,,0.0727,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3K,NP_000240:p.Phe3Lys,,,,,saturation,,0.01489,0.47925,0.191381278366462,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2836,1.9211,-4.9696,loss_of_function,-0.123046176975908,0.9581186321635642,,,0.3804,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3L,NP_000240:p.Phe3Leu,,,,,"saturation,clinvar",,-0.00287,0.25408,-0.1302121055149352,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,"237346, 185790","Conflicting classifications of pathogenicity, Conflicting classifications of pathogenicity","1, 1",58.49,-,-0.0697,1.9211,-0.9108,loss_of_function,0.0129957362016532,0.9749131382947115,,,0.1431,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3M,NP_000240:p.Phe3Met,,,,,saturation,,1.72064,0.39796,0.1741115017227057,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.1134,1.9211,-3.3847,loss_of_function,-0.0001501799310473,0.9732902621976808,,,0.1391,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3N,NP_000240:p.Phe3Asn,,,,,saturation,,0.07777,0.24864,0.2159102276286806,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2451,1.9211,-6.5545,loss_of_function,-0.0476377252987749,0.9674278786630527,,,0.2403,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3P,NP_000240:p.Phe3Pro,,,,,saturation,,-0.25231,-0.06837,1.7344865476225602,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.3836,1.9211,-19.8423,loss_of_function,-0.084961191749412,0.9628202605290535,,,0.2621,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3Q,NP_000240:p.Phe3Gln,,,,,saturation,,-0.02228,0.64626,0.4385962830898388,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2421,1.9211,-5.5545,loss_of_function,-0.0224360467285009,0.9705390503260919,,,0.2739,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3R,NP_000240:p.Phe3Arg,,,,,saturation,,1.80216,0.81122,0.0660509133656078,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.3609,1.9211,-19.8423,loss_of_function,-0.133441690101563,0.9568352959854162,,,0.2586,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3S,NP_000240:p.Phe3Ser,,,,,saturation,,0.40674,0.87517,0.3193354679258614,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2393,1.9211,-19.8423,loss_of_function,-0.0578075814778342,0.9661724000538304,,,0.116,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3T,NP_000240:p.Phe3Thr,,,,,saturation,,0.39164,1.19218,0.2728568687220439,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.2178,1.9211,-6.5545,loss_of_function,-0.0853968101816846,0.9627664830110756,,,0.1202,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3V,NP_000240:p.Phe3Val,,,,,saturation,,0.46649,0.77687,0.1582143694822635,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,58.49,-,-0.1986,1.9211,-19.8423,loss_of_function,-0.0874493898829517,0.962513090056122,,,0.0609,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3W,NP_000240:p.Phe3Trp,,,,,saturation,,-0.165,0.1568,-0.1276848990945506,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,58.49,-,-0.1838,1.9211,-19.8423,loss_of_function,-0.168832383404754,0.9524662805710987,,,0.1766,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F3Y,NP_000240:p.Phe3Tyr,,,,,saturation,,0.03486,-0.02177,0.1560114540036072,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,109.2,,False,109.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,58.49,-,-0.1521,1.9211,-19.8423,loss_of_function,-0.168832383404754,0.9524662805710987,,,0.1472,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4A,NP_000240:p.Val4Ala,"hg19,3:g.37035049T>C, hg38,3:g.36993558T>C",,,0.411,"cBioPortal,COSMIC,saturation",,-0.08282,0.38946,0.4539425097019539,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.0969,1.7713,-4.3923,loss_of_function,-0.099608825126671,0.9610119959816408,,,0.0788,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4C,NP_000240:p.Val4Cys,,,,,saturation,,-0.17691,0.72653,0.879397114590138,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.2079,1.7713,-20.68,loss_of_function,-0.89114626814425,0.8632959309154226,,,0.3633,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4D,NP_000240:p.Val4Asp,,,,,saturation,,-0.11351,0.49082,0.2997687308675667,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.2788,1.7713,-7.3922,loss_of_function,-0.686999186152415,0.8884980861930596,,,0.1818,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4E,NP_000240:p.Val4Glu,,,,,saturation,,-0.45063,0.26156,0.1616712161472466,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,69.91,-,-0.231,1.7713,-6.3923,loss_of_function,-0.642717740549728,0.8939646736020423,,,0.1749,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4F,NP_000240:p.Val4Phe,,,,,saturation,,-0.40042,0.48639,0.0233308240911633,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.2572,1.7713,-20.68,loss_of_function,-1.81868635160106,0.7487902079756953,,,0.0927,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4G,NP_000240:p.Val4Gly,,,,,saturation,,0.06627,0.98673,1.0426920417089431,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3058,1.7713,-20.68,loss_of_function,-0.687574841059705,0.888427021036417,,,0.0973,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4H,NP_000240:p.Val4His,,,,,saturation,,-0.51806,0.19456,-0.0727223868849452,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3496,1.7713,-20.68,loss_of_function,-1.55576779289125,0.7812477590576263,,,0.3049,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4I,NP_000240:p.Val4Ile,,,,,saturation,,0.03642,0.03367,-0.3123845941579611,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.0346,1.7713,-4.8073,loss_of_function,-0.63681992645188,0.8946927644728124,,,0.091,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4K,NP_000240:p.Val4Lys,,,,,saturation,,-0.13184,0.21293,0.2754841043395822,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3429,1.7713,-20.68,loss_of_function,-0.91780715002363,0.860004619188568,,,0.2562,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4L,NP_000240:p.Val4Leu,"hg19,3:g.37035048G>T, hg38,3:g.36993557G>T",,,0.357,"cBioPortal,COSMIC,saturation,clinvar",,-0.08167,0.13129,-0.2317710516558052,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,1007174,Uncertain significance,1,69.91,-,-0.1077,1.7713,-6.3923,loss_of_function,-0.163250647597179,0.9531553512703649,,,0.116,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4M,NP_000240:p.Val4Met,"hg38,3:g.36993557G>A",,,0.313,"COSMIC,saturation,clinvar",,-0.07745,0.6017,0.1273456733787314,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,630189,Uncertain significance,2,69.91,-,-0.0905,1.7713,-1.2224,loss_of_function,-0.121419662596268,0.9583194269413149,,,0.1506,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4N,NP_000240:p.Val4Asn,,,,,saturation,,-0.03426,0.2983,0.3352616281200715,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3345,1.7713,-20.68,loss_of_function,-0.891333219498322,0.863272851589435,,,0.1792,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4P,NP_000240:p.Val4Pro,,,,,saturation,,-0.12794,1.35816,2.3711338446934804,Neutral,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3166,1.7713,-7.3922,loss_of_function,-1.18838752663214,0.8266012092557143,,,0.1758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4Q,NP_000240:p.Val4Gln,,,,,saturation,,-0.38539,-0.4068,0.4386537807045981,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,69.91,-,-0.3146,1.7713,-20.68,loss_of_function,-0.824876261918253,0.8714770274604339,,,0.1869,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4R,NP_000240:p.Val4Arg,,,,,saturation,,-0.32836,0.52109,0.0085246495352686,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3639,1.7713,-20.68,loss_of_function,-0.83114914225089,0.8707026342991959,,,0.203,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4S,NP_000240:p.Val4Ser,,,,,saturation,,-0.33876,0.16565,0.5163362184321624,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.2837,1.7713,-20.68,loss_of_function,-0.879782321436472,0.864698821158584,,,0.0995,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4T,NP_000240:p.Val4Thr,,,,,saturation,,-0.15773,0.42347,0.2303777271693685,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.1232,1.7713,-5.8073,loss_of_function,-0.249929191249848,0.9424548009854415,,,0.1117,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4W,NP_000240:p.Val4Trp,,,,,saturation,,-0.08062,0.64082,-0.2394812419267106,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.2977,1.7713,-20.68,loss_of_function,-1.81868635160106,0.7487902079756953,,,0.5265,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V4Y,NP_000240:p.Val4Tyr,,,,,saturation,,-0.24846,0.4449,0.1502858488131936,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,101.3,,False,101.3,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,69.91,-,-0.3007,1.7713,-20.68,loss_of_function,-1.81868635160106,0.7487902079756953,,,0.3359,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5C,NP_000240:p.Ala5Cys,,,,,saturation,,0.08741,0.5483,0.5408458515198447,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2363,1.0494,-20.7307,loss_of_function,-1.86914715377365,0.7425607730046944,,,0.7095,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5D,NP_000240:p.Ala5Asp,,,,,saturation,,0.01028,-0.05238,-0.2484105498051469,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.3181,1.0494,-20.7307,loss_of_function,-1.89470150308731,0.7394060637963228,,,0.7288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5E,NP_000240:p.Ala5Glu,,,,,saturation,,-0.51139,0.02109,-0.4901821287045332,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.3037,1.0494,-20.7307,loss_of_function,-1.19655097371982,0.8255934237948734,,,0.6503,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5F,NP_000240:p.Ala5Phe,,,,,saturation,,0.0467,0.55408,-0.3415558672493601,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2864,1.0494,-20.7307,loss_of_function,-2.48077647853808,0.667054539632787,,,0.7605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5G,NP_000240:p.Ala5Gly,,,,,saturation,,0.22676,0.64694,0.4340554510501598,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,74.88,-,-0.1569,1.0494,-6.4429,loss_of_function,-2.34697958065087,0.6835718964488616,,,0.2125,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5H,NP_000240:p.Ala5His,,,,,saturation,,-0.26117,-0.43435,-0.4283536065135007,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2906,1.0494,-20.7307,loss_of_function,-2.20619282442991,0.700952158055821,,,0.7804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5I,NP_000240:p.Ala5Ile,,,,,saturation,,0.38632,0.3102,-0.414718247458099,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.276,1.0494,-20.7307,loss_of_function,-0.963894781178541,0.8543150564213128,,,0.8306,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5K,NP_000240:p.Ala5Lys,,,,,saturation,,-0.08087,-0.00544,-0.3460930649731575,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2406,1.0494,-7.4428,loss_of_function,-1.57014155875782,0.779473303720037,,,0.7765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5L,NP_000240:p.Ala5Leu,,,,,saturation,,0.19549,0.0983,-0.5418845976801923,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2807,1.0494,-20.7307,loss_of_function,-1.52867543463838,0.7845923369612845,,,0.6135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5M,NP_000240:p.Ala5Met,,,,,saturation,,0.1727,0.24388,-0.2894269233042423,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.1717,1.0494,-7.4428,loss_of_function,-1.78328513947196,0.7531605219492735,,,0.8008,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5N,NP_000240:p.Ala5Asn,,,,,saturation,,0.30641,0.20136,-0.0855769449661092,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2884,1.0494,-20.7307,loss_of_function,-1.56264911600749,0.7803982530446135,,,0.6249,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5P,NP_000240:p.Ala5Pro,,,,,"saturation,clinvar",,-0.55266,-1.04048,0.0695937073919811,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,487011,Uncertain significance,2,74.88,-,-0.2723,1.0494,-3.9835,loss_of_function,-0.0084982226293342,0.972259688229668,,,0.1612,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5Q,NP_000240:p.Ala5Gln,,,,,saturation,,-0.07346,0.15646,-0.1812429048368607,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.213,1.0494,-6.4429,loss_of_function,-1.7667756368846,0.7551986360565319,,,0.6316,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5R,NP_000240:p.Ala5Arg,,,,,saturation,,-0.10852,0.39116,-0.3760024405279888,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.3191,1.0494,-20.7307,loss_of_function,-1.39313405111879,0.801325052220683,,,0.6211,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5S,NP_000240:p.Ala5Ser,,,,,"saturation,clinvar",,-0.14593,-0.50272,-0.1027631791225597,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,819111,Uncertain significance,1,74.88,-,-0.1163,1.0494,-4.121,loss_of_function,-0.360341597911873,0.9288242822921338,,,0.1607,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5T,NP_000240:p.Ala5Thr,,,,,"saturation,clinvar",,-0.19153,-0.14116,-0.1920673560426467,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,1771768,Uncertain significance,1,74.88,-,-0.1311,1.0494,-5.8579,loss_of_function,-0.0558169446838262,0.9664181460968034,,,0.3347,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5V,NP_000240:p.Ala5Val,,,,,"saturation,clinvar",,0.27249,0.27619,-0.3109048124214686,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,237315,Uncertain significance,2,74.88,-,-0.204,1.0494,-20.7307,loss_of_function,-0.41410460292207,0.9221871871779673,,,0.5477,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5W,NP_000240:p.Ala5Trp,,,,,saturation,,0.13085,0.74456,-0.7118056124371774,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.2974,1.0494,-20.7307,loss_of_function,-2.48077647853808,0.667054539632787,,,0.9288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A5Y,NP_000240:p.Ala5Tyr,,,,,saturation,,0.05533,0.31122,-0.3541092726774586,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,110.7,,False,110.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,74.88,-,-0.3056,1.0494,-20.7307,loss_of_function,-1.76964900041949,0.7548439165412254,,,0.8308,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6A,NP_000240:p.Gly6Ala,,,,,saturation,,-0.08906,0.50748,-0.4455276721805878,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.2319,0.6983,-5.0945,loss_of_function,-0.612439229321853,0.8977025851807692,,,0.2089,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6C,NP_000240:p.Gly6Cys,,,,,saturation,,0.02731,0.70612,0.1978026171967417,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3727,0.6983,-20.9672,loss_of_function,-0.812250674400134,0.8730356684853189,,,0.6653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6D,NP_000240:p.Gly6Asp,,,,,saturation,,-0.34501,0.05442,-0.6634897447407656,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3732,0.6983,-20.9672,loss_of_function,-1.93253842773869,0.7347350587494299,,,0.76,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6E,NP_000240:p.Gly6Glu,,,,,"saturation,clinvar",,-0.68888,0.23197,-0.8667423964821747,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,1780371,Uncertain significance,1,83.7,-,-0.3725,0.6983,-20.9672,loss_of_function,-2.41474015848421,0.6752067873931931,,,0.7143,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6F,NP_000240:p.Gly6Phe,,,,,saturation,,-0.23734,0.27959,-0.6619560144895115,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.4108,0.6983,-20.9672,loss_of_function,-2.72177184609068,0.6373034277628915,,,0.9441,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6H,NP_000240:p.Gly6His,,,,,saturation,,-0.09722,0.36803,-0.7740282924575886,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3126,0.6983,-6.6794,loss_of_function,-2.11765411440969,0.7118823476830256,,,0.8971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6I,NP_000240:p.Gly6Ile,,,,,saturation,,0.13728,0.55068,-0.7947765590143391,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.4565,0.6983,-20.9672,loss_of_function,-2.48051692133618,0.6670865822211105,,,0.856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6K,NP_000240:p.Gly6Lys,,,,,saturation,,-0.14249,0.04694,-0.6090950895066549,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3325,0.6983,-6.6794,loss_of_function,-0.958304529349328,0.85500517843171,,,0.857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6L,NP_000240:p.Gly6Leu,,,,,saturation,,0.06146,0.06531,-1.052635459005418,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.4247,0.6983,-20.9672,loss_of_function,-1.76296860560176,0.7556686177609033,,,0.883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6M,NP_000240:p.Gly6Met,,,,,saturation,,-0.08732,0.28095,-0.7092590076899397,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3629,0.6983,-20.9672,loss_of_function,-1.98938922224401,0.7277167730271906,,,0.9188,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6N,NP_000240:p.Gly6Asn,,,,,saturation,,0.01425,-0.07177,-0.4971421991427482,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3735,0.6983,-20.9672,loss_of_function,-0.820549308051758,0.8720111941120392,,,0.7643,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6P,NP_000240:p.Gly6Pro,,,,,saturation,,-0.51074,-0.52075,0.4204314306511414,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3909,0.6983,-5.3575,loss_of_function,-0.710603385559091,0.8855841248821887,,,0.7354,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6Q,NP_000240:p.Gly6Gln,,,,,saturation,,-0.24819,-0.50986,-0.4431260275188636,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3764,0.6983,-20.9672,loss_of_function,-1.75989783727971,0.756047707088651,,,0.8146,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6R,NP_000240:p.Gly6Arg,,,,,"saturation,clinvar",,-0.05468,0.63741,-0.7240587511861601,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,1778330,Uncertain significance,2,83.7,-,-0.3136,0.6983,-6.0945,loss_of_function,-0.669834958775934,0.8906170267105636,,,0.7296,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6S,NP_000240:p.Gly6Ser,,,,,saturation,,0.08287,0.0051,-0.3604098283734291,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.2459,0.6983,-6.6794,loss_of_function,-1.48475639828105,0.7900141845974211,,,0.2826,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6T,NP_000240:p.Gly6Thr,,,,,saturation,,0.06316,-0.02755,-0.4468564886882104,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.3957,0.6983,-20.9672,loss_of_function,-1.48513870061913,0.7899669890029836,,,0.5063,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6V,NP_000240:p.Gly6Val,,,,,"saturation,clinvar",,0.13342,0.47891,-0.6824107523829276,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,1780376,Uncertain significance,2,83.7,-,-0.3997,0.6983,-20.9672,loss_of_function,-1.9080937064889,0.7377527832970694,,,0.6417,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6W,NP_000240:p.Gly6Trp,,,,,"saturation,clinvar",,-0.22689,0.38537,-1.0676731453574144,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,1723699,Uncertain significance,2,83.7,-,-0.4106,0.6983,-20.9672,loss_of_function,-2.72177184609068,0.6373034277628915,,,0.9044,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G6Y,NP_000240:p.Gly6Tyr,,,,,saturation,,-0.04806,0.19252,-0.587394204764406,Neutral,Neutral,False,0.071,,,,,,,Uncertain,Uncertain,Uncertain,125.4,,False,125.4,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,83.7,-,-0.4112,0.6983,-20.9672,loss_of_function,-2.72177184609068,0.6373034277628915,,,0.9184,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7A,NP_000240:p.Val7Ala,,,,,"saturation,clinvar",,0.031,0.90374,0.2837462691434161,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,2695434,Uncertain significance,2,86.75,-,-0.1248,1.5677,-6.1898,loss_of_function,-0.437968086614294,0.9192412169705614,0.0182883673872712,Benign,0.2614,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7C,NP_000240:p.Val7Cys,,,,,saturation,,-0.02143,1.02449,0.9313422877657936,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.2286,1.5677,-21.0625,loss_of_function,-1.59771229028025,0.7760696701722691,0.0787189758368368,Benign,0.7229,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7D,NP_000240:p.Val7Asp,,,,,saturation,,-0.01259,1.08197,0.0893835630552819,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.3673,1.5677,-21.0625,loss_of_function,-1.76553356553738,0.7553519709690525,0.1829264373431285,Benign,0.4614,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7E,NP_000240:p.Val7Glu,,,,,saturation,,-0.61628,-0.11088,-0.1154967638474396,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.75,-,-0.2568,1.5677,-7.7747,loss_of_function,-1.70149648440503,0.7632574107455008,0.0064841433127955,Benign,0.3032,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7F,NP_000240:p.Val7Phe,,,,,"saturation,clinvar",,-0.13156,0.52755,-0.1068123905025375,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,182534,Conflicting classifications of pathogenicity,1,86.75,-,-0.2779,1.5677,-21.0625,loss_of_function,-1.75805741523037,0.7562749089756988,0.6471084068002098,Uncertain,0.1934,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7G,NP_000240:p.Val7Gly,,,,,saturation,,0.21544,1.4017,0.858008925965803,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.3265,1.5677,-21.0625,loss_of_function,-2.35378148059617,0.6827321953033354,0.2084856959611862,Benign,0.2701,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7H,NP_000240:p.Val7His,,,,,saturation,,-0.23016,0.70136,-0.1067699514266223,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.3703,1.5677,-21.0625,loss_of_function,-1.39444398109064,0.8011633400951347,0.0478130278475124,Benign,0.6018,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7I,NP_000240:p.Val7Ile,"hg19,3:g.37035057G>A, hg38,3:g.36993566G>A",,,0.521,"cBioPortal,COSMIC,saturation",,0.1029,-0.02313,-0.196756616923196,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.0457,1.5677,-3.3154,loss_of_function,-0.083554277985366,0.9629939453978146,0.0017269960491827,Benign,0.0745,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7K,NP_000240:p.Val7Lys,,,,,saturation,,-0.41267,0.76803,-0.0058057110428505,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.2781,1.5677,-4.3154,loss_of_function,-0.632531467698011,0.895222178865427,0.0007430292086205,Benign,0.2769,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7L,NP_000240:p.Val7Leu,,,,,"saturation,clinvar",,0.02791,0.42075,-0.4021025474625356,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,2452045,Uncertain significance,1,86.75,-,-0.2013,1.5677,-21.0625,loss_of_function,-1.16216002238969,0.8298390200929495,0.016627006585302,Benign,0.2557,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7M,NP_000240:p.Val7Met,,,,,saturation,,0.11246,0.89354,0.0430725915551399,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.1426,1.5677,-7.7747,loss_of_function,-1.40739111424503,0.7995650039495794,0.1774915801481927,Benign,0.1676,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7N,NP_000240:p.Val7Asn,,,,,saturation,,0.00608,1.06054,0.2215407322316115,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.3552,1.5677,-21.0625,loss_of_function,-1.31397381810942,0.811097459764553,0.0186109846391876,Benign,0.3037,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7P,NP_000240:p.Val7Pro,,,,,saturation,,-0.33785,0.32551,1.5855909712428675,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.3292,1.5677,-6.1898,loss_of_function,-0.981904966352716,0.8520916815931744,0.0022580238857976,Benign,0.6232,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7Q,NP_000240:p.Val7Gln,,,,,saturation,,-0.31938,0.25034,0.2822561986936256,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.75,-,-0.3352,1.5677,-21.0625,loss_of_function,-1.57139180528574,0.7793189595735297,0.0262310330143101,Benign,0.3076,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7R,NP_000240:p.Val7Arg,,,,,saturation,,-0.3444,0.23503,-0.1232966198468016,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.2991,1.5677,-4.3154,loss_of_function,-0.812177209554575,0.873044737791758,0.0009813487936019,Benign,0.2909,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7S,NP_000240:p.Val7Ser,,,,,saturation,,0.11174,0.77109,0.331333743435398,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.2315,1.5677,-6.7747,loss_of_function,-0.851804611387065,0.8681526966002425,0.0006959257003427,Benign,0.2937,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7T,NP_000240:p.Val7Thr,,,,,saturation,,0.01402,0.26088,0.0876574697213611,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,86.75,-,-0.1376,1.5677,-4.9674,loss_of_function,-0.565402796121753,0.9035092784807622,0.0003283888010964,Benign,0.212,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7W,NP_000240:p.Val7Trp,,,,,saturation,,0.0322,1.05612,-0.4760422771988587,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.3184,1.5677,-21.0625,loss_of_function,-2.23785535516278,0.6970433879268184,0.6751963677098483,Uncertain,0.8493,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V7Y,NP_000240:p.Val7Tyr,,,,,saturation,,-0.104,0.32075,-0.0617925853301493,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,105.9,,False,105.9,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,86.75,-,-0.3213,1.5677,-21.0625,loss_of_function,-2.15812135876886,0.7068866271170141,0.2617790608669329,Benign,0.5945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8A,NP_000240:p.Ile8Ala,,,,,saturation,,-0.12118,0.11463,0.3786989895160181,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.4188,0.0678,-22.002,loss_of_function,-5.99977075976349,0.23263128248279644,0.982835519840262,Pathogenic,0.9917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8C,NP_000240:p.Ile8Cys,,,,,saturation,,0.0143,0.67925,1.0362706786102795,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.3988,0.0678,-22.002,loss_of_function,-5.99977075976349,0.23263128248279644,0.9762728647763612,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8D,NP_000240:p.Ile8Asp,,,,,saturation,,-0.12023,-0.12789,0.1366239273365971,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.5429,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9740602522586927,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8E,NP_000240:p.Ile8Glu,,,,,saturation,,-0.68551,-0.0915,-0.0577583568594181,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.5238,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.98215557812957,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8F,NP_000240:p.Ile8Phe,,,,,"saturation,clinvar",,-0.14406,0.24286,0.0284330240530911,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,1789251,Uncertain significance,2,89.22,-,-0.3798,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9744569465102924,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8G,NP_000240:p.Ile8Gly,,,,,saturation,,0.06286,0.71293,0.9537889171080076,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.5095,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9760725736999936,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8H,NP_000240:p.Ile8His,,,,,saturation,,-0.03309,0.12109,-0.0803256305075761,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.5094,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9843721622035502,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8K,NP_000240:p.Ile8Lys,,,,,saturation,,-0.31095,-0.06327,0.0650392325643223,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.22,-,-0.5163,0.0678,-22.002,loss_of_function,-6.12945471994081,0.21662167181621625,0.9764305631171926,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8L,NP_000240:p.Ile8Leu,,,,,"saturation,clinvar",,-0.07403,0.15918,-0.1461104855948325,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1789245,Uncertain significance,2,89.22,-,-0.2362,0.0678,-8.7141,loss_of_function,-2.82955987767951,0.623996890717796,0.7152270019264655,Pathogenic,0.8991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8M,NP_000240:p.Ile8Met,,,,,"saturation,clinvar",,-0.01428,0.51327,0.1418698028428666,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,856302,Uncertain significance,2,89.22,-,-0.3097,0.0678,-22.002,loss_of_function,-2.90059469394325,0.6152275737521546,0.98097053983789,Pathogenic,0.9257,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8N,NP_000240:p.Ile8Asn,,,,,saturation,,0.0414,0.12313,0.3218775665257084,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.456,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9766600375985692,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8P,NP_000240:p.Ile8Pro,,,,,saturation,,-0.79373,-0.56633,0.8554102889446937,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.5629,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9779777906709916,Pathogenic,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8Q,NP_000240:p.Ile8Gln,,,,,saturation,,-0.2951,-0.51531,0.3547045903286389,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.4835,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9838630608784475,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8R,NP_000240:p.Ile8Arg,,,,,saturation,,-0.40372,0.29796,0.0204357190852155,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,,,,89.22,-,-0.5431,0.0678,-22.002,loss_of_function,-6.12945471994081,0.21662167181621625,0.9802187951725728,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8S,NP_000240:p.Ile8Ser,,,,,saturation,,0.0034,0.02687,0.371494044685749,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.22,-,-0.4594,0.0678,-22.002,loss_of_function,-5.99977075976349,0.23263128248279644,0.9773414084845492,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8T,NP_000240:p.Ile8Thr,,,,,"saturation,clinvar",,-0.12395,-0.00034,0.2230278191843515,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,2682005,Uncertain significance,1,89.22,-,-0.3762,0.0678,-22.002,loss_of_function,-5.99977075976349,0.23263128248279644,0.9845992040954936,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8V,NP_000240:p.Ile8Val,,,,,"saturation,clinvar",,-0.01668,-0.03912,0.0652313012584182,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,923063,Uncertain significance,2,89.22,-,-0.1913,0.0678,-7.7142,loss_of_function,-2.61826297784092,0.6500816979433454,0.1217546551599371,Benign,0.7515,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8W,NP_000240:p.Ile8Trp,,,,,saturation,,-0.09736,-0.13946,-0.2859764248366647,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,,,,89.22,-,-0.4687,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.9818839596878196,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I8Y,NP_000240:p.Ile8Tyr,,,,,saturation,,-0.11649,-0.0398,0.0470135066015942,Neutral,Neutral,False,0.124,,,,,,,Uncertain,Uncertain,Uncertain,109.4,,True,109.4,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,,,,89.22,-,-0.4776,0.0678,-22.002,loss_of_function,-6.3511509141711,0.18925306161155805,0.979631999089577,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9A,NP_000240:p.Arg9Ala,,,,,saturation,,0.93824,0.61088,0.4947540830221564,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.1701,1.8008,-7.7142,loss_of_function,-1.9169168230823,0.7366635609959227,0.5047261877750745,Uncertain,0.7605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9C,NP_000240:p.Arg9Cys,,,,,saturation,,0.60024,0.61735,0.887195241611505,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.184,1.8008,-8.7141,loss_of_function,-1.67510085449531,0.7665159768594284,0.3805782205959883,Uncertain,0.231,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9D,NP_000240:p.Arg9Asp,,,,,saturation,,0.39841,0.68605,0.3575262826596936,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.334,1.8008,-22.002,loss_of_function,-1.61255472559312,0.7742373571369635,0.836415216386029,Pathogenic,0.9415,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9E,NP_000240:p.Arg9Glu,,,,,saturation,,0.05599,0.10884,0.2137891739524433,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.2012,1.8008,-6.7142,loss_of_function,-1.37538543677782,0.8035161358757602,0.2023954158942775,Benign,0.6049,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9F,NP_000240:p.Arg9Phe,,,,,saturation,,0.36266,-0.58912,-0.1850261718447104,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,,,,89.15,-,-0.2751,1.8008,-22.002,loss_of_function,-2.0049939671786,0.7257903521297066,0.7836648415140668,Pathogenic,0.8071,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9G,NP_000240:p.Arg9Gly,,,,,"saturation,clinvar",,0.85271,0.72891,0.9423062446193684,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,919271,Uncertain significance,2,89.15,-,-0.2783,1.8008,-22.002,loss_of_function,-2.91061781994942,0.6139902091250915,0.8917467267066214,Pathogenic,0.6315,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9H,NP_000240:p.Arg9His,,,,,"saturation,clinvar",,0.72351,-0.08503,-0.1666280131653935,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,1377655,Uncertain significance,1,89.15,-,-0.1255,1.8008,-4.9069,loss_of_function,-1.36570121876014,0.8047116619829314,0.0458283501400819,Benign,0.1699,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9I,NP_000240:p.Arg9Ile,,,,,saturation,,0.86664,-0.04592,-0.0428320121599112,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.1995,1.8008,-7.7142,loss_of_function,-1.26829089475943,0.8167370609607577,0.1210293866690046,Benign,0.513,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9K,NP_000240:p.Arg9Lys,,,,,saturation,,0.26068,-0.16939,0.1833251404563002,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.15,-,-0.0316,1.8008,-2.0995,loss_of_function,-0.575440534986848,0.9022701098820917,0.0008081984921507,Benign,0.1422,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9L,NP_000240:p.Arg9Leu,,,,,saturation,,0.67544,-0.42075,-0.2100095066060575,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.1623,1.8008,-5.7142,loss_of_function,-1.299002155373,0.8129457260506358,0.0265093784996773,Benign,0.4448,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9M,NP_000240:p.Arg9Met,,,,,saturation,,0.73857,0.22925,0.0788491617617348,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.2113,1.8008,-22.002,loss_of_function,-1.92007576668696,0.736273586344014,0.625628324970877,Uncertain,0.6764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9N,NP_000240:p.Arg9Asn,,,,,saturation,,0.49175,0.19762,0.2605560179669663,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.2579,1.8008,-22.002,loss_of_function,-1.69895173304434,0.7635715627691759,0.3130697813067292,Benign,0.8603,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9P,NP_000240:p.Arg9Pro,,,,,saturation,,3.12425,-0.06939,1.7384062809359035,Uncertain,Uncertain,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.385,1.8008,-22.002,loss_of_function,-2.91061781994942,0.6139902091250915,0.9074791441768508,Pathogenic,0.978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9Q,NP_000240:p.Arg9Gln,"hg19,3:g.37035064G>A, hg38,3:g.36993573G>A",,1.59079881963e-05,0.554,"cBioPortal,COSMIC,saturation,clinvar",,0.23511,0.07109,0.3391568127447053,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,576418,Uncertain significance,2,89.15,-,-0.1251,1.8008,-3.8563,loss_of_function,-0.85573662150052,0.8676672861380127,0.0126510371650932,Benign,0.1317,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9S,NP_000240:p.Arg9Ser,,,,,saturation,,0.15401,0.33673,0.4373166080578178,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.1757,1.8008,-8.7141,loss_of_function,-1.92668840116504,0.7354572502039877,0.2375564415104115,Benign,0.789,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9T,NP_000240:p.Arg9Thr,,,,,saturation,,0.17065,-0.22789,0.199384045439796,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.172,1.8008,-7.1292,loss_of_function,-1.70378161085615,0.762975309668727,0.4436822934206946,Uncertain,0.581,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9V,NP_000240:p.Arg9Val,,,,,saturation,,0.98821,-0.21667,0.025573352353399,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,89.15,-,-0.1773,1.8008,-5.9069,loss_of_function,-1.46279671908645,0.7927251282930627,0.1043221501185095,Benign,0.5525,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9W,NP_000240:p.Arg9Trp,"hg19,3:g.37035063C>T",,0.0,0.860,"cBioPortal,saturation,clinvar",,0.47857,-0.07755,-0.3825507647530912,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,90122,Uncertain significance,2,89.15,-,-0.2607,1.8008,-22.002,loss_of_function,-2.13586303929885,0.7096344382443113,0.9391443271941003,Pathogenic,0.4304,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R9Y,NP_000240:p.Arg9Tyr,,,,,saturation,,0.40675,-0.78503,-0.1219277844293692,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,True,88.3,,neutral,neutral,neutral,UP,mixed_effects,destabilizing,neutral,,,,89.15,-,-0.2644,1.8008,-22.002,loss_of_function,-1.78943078916075,0.7524018355344216,0.7310015268405018,Pathogenic,0.6636,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10A,NP_000240:p.Arg10Ala,,,,,saturation,,0.06471,0.24014,0.540819899319212,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.1617,1.6082,-2.602,loss_of_function,-1.67372366661044,0.7666859920395738,0.0270417734873531,Benign,0.85,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10C,NP_000240:p.Arg10Cys,,,,,saturation,,0.18734,0.75884,1.081971139603074,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2696,1.6082,-22.019,loss_of_function,-2.68502026777675,0.6418404457517304,0.8638376386814546,Pathogenic,0.5797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10D,NP_000240:p.Arg10Asp,,,,,saturation,,0.07617,0.0102,0.4860542756352731,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.3518,1.6082,-22.019,loss_of_function,-3.20887110268727,0.5771705520901461,0.9647724146035844,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10E,NP_000240:p.Arg10Glu,,,,,saturation,,0.07746,0.0085,0.348406486073276,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2971,1.6082,-22.019,loss_of_function,-3.20887110268727,0.5771705520901461,0.5267748690601092,Uncertain,0.9006,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10F,NP_000240:p.Arg10Phe,,,,,saturation,,-0.47176,0.35306,0.4302217990319301,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2929,1.6082,-22.019,loss_of_function,-3.78360158271016,0.5062195168904022,0.8996089418323518,Pathogenic,0.9772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10G,NP_000240:p.Arg10Gly,,,,,"saturation,clinvar",,0.13973,0.56837,1.074950523138112,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,439176,Uncertain significance,2,88.01,-,-0.2283,1.6082,-8.7312,loss_of_function,-3.25478668877556,0.5715022284532348,0.9343250197831906,Pathogenic,0.8487,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10H,NP_000240:p.Arg10His,,,,,saturation,,0.12375,-0.18707,0.2720200124376504,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.1627,1.6082,-8.7312,loss_of_function,-3.26168739263859,0.570650329868233,0.7469474862030376,Pathogenic,0.5062,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10I,NP_000240:p.Arg10Ile,,,,,saturation,,0.25049,0.02483,0.204395575193107,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2902,1.6082,-22.019,loss_of_function,-3.17417529337648,0.5814537834016217,0.5955370215394841,Uncertain,0.926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10K,NP_000240:p.Arg10Lys,,,,,saturation,,0.09587,0.06905,0.2871119244231118,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.01,-,-0.0492,1.6082,-2.0589,loss_of_function,-0.51434654378586,0.9098122223519602,0.0002298700118104,Benign,0.2089,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10L,NP_000240:p.Arg10Leu,"hg19,3:g.37035067G>T",,,0.753,"cBioPortal,saturation,clinvar",,0.17487,0.02517,0.0711190759314228,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,489899,Uncertain significance,2,88.01,-,-0.1954,1.6082,-8.7312,loss_of_function,-2.68314232325143,0.6420722798248315,0.5399637858432925,Uncertain,0.8128,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10M,NP_000240:p.Arg10Met,,,,,saturation,,-0.05695,0.30952,0.3709799657965851,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2291,1.6082,-22.019,loss_of_function,-3.17417529337648,0.5814537834016217,0.705914424881423,Pathogenic,0.9311,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10N,NP_000240:p.Arg10Asn,,,,,saturation,,0.19745,0.10748,0.5185285809493506,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2757,1.6082,-22.019,loss_of_function,-3.20887110268727,0.5771705520901461,0.9797752472965612,Pathogenic,0.9799,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10P,NP_000240:p.Arg10Pro,,,,,saturation,,-0.60344,-0.48129,0.7723421943190961,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.3162,1.6082,-5.0309,loss_of_function,-2.19528877530866,0.702298273495863,0.0424322256524899,Benign,0.7524,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10Q,NP_000240:p.Arg10Gln,"hg19,3:g.37035067G>A, hg38,3:g.36993576G>A",,7.9541206322e-06,0.748,"cBioPortal,COSMIC,saturation,clinvar",,0.17204,-0.53639,0.4923039010586721,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,230802,Uncertain significance,2,88.01,-,-0.2355,1.6082,-22.019,loss_of_function,-2.37312715291201,0.6803439532922466,0.4975954661657378,Uncertain,0.3883,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10S,NP_000240:p.Arg10Ser,,,,,saturation,,0.1578,0.17041,0.6173938914795724,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2613,1.6082,-22.019,loss_of_function,-2.33006585109994,0.6856599127668395,0.6862055852796279,Pathogenic,0.9546,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10T,NP_000240:p.Arg10Thr,,,,,saturation,,0.12264,0.14048,0.4760155471934751,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2657,1.6082,-22.019,loss_of_function,-2.68502026777675,0.6418404457517304,0.6374368734732979,Uncertain,0.9323,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10V,NP_000240:p.Arg10Val,,,,,saturation,,0.2294,0.10612,0.3679492034366821,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2773,1.6082,-22.019,loss_of_function,-2.2475334849658,0.695848613415652,0.6330791493812435,Uncertain,0.9149,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10W,NP_000240:p.Arg10Trp,,,,,"saturation,clinvar",,-0.07712,0.58197,0.0368274921971306,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,489898,Uncertain significance,2,88.01,-,-0.2785,1.6082,-22.019,loss_of_function,-3.78360158271016,0.5062195168904022,0.967810536351496,Pathogenic,0.8711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R10Y,NP_000240:p.Arg10Tyr,,,,,saturation,,-0.08343,0.01361,0.4203133449913115,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,106.7,,True,106.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,88.01,-,-0.2822,1.6082,-22.019,loss_of_function,-3.78360158271016,0.5062195168904022,0.9542785779005926,Pathogenic,0.938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11A,NP_000240:p.Leu11Ala,,,,,saturation,,1.70531,1.03741,0.7781572095301231,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4185,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9909826715817128,Pathogenic,0.9884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11C,NP_000240:p.Leu11Cys,,,,,saturation,,1.33879,1.79014,1.4467948963112447,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4077,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.989396060105905,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11D,NP_000240:p.Leu11Asp,,,,,saturation,,1.51626,1.28571,0.8187778178472612,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.54,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9918768125332572,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11E,NP_000240:p.Leu11Glu,,,,,saturation,,1.06554,1.01327,0.5966504003208084,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.508,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.992816562769142,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11F,NP_000240:p.Leu11Phe,,,,,saturation,,1.09982,0.86088,0.2741752088814075,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,88.96,-,-0.3519,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9915925829816372,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11G,NP_000240:p.Leu11Gly,,,,,saturation,,2.4603,2.26565,1.5549901594445008,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4933,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9912307188539662,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11H,NP_000240:p.Leu11His,,,,,saturation,,1.77263,1.05306,0.4717106939234966,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4608,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9924544914902886,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11I,NP_000240:p.Leu11Ile,,,,,saturation,,0.84972,0.55782,0.2878906332048447,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.96,-,-0.2926,0.0001,-22.0359,loss_of_function,-3.17876056454012,0.5808877272291375,0.9567995535282304,Pathogenic,0.9425,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11K,NP_000240:p.Leu11Lys,,,,,saturation,,0.67237,0.94116,0.5893330596786112,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.96,-,-0.5071,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.99068649554945,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11M,NP_000240:p.Leu11Met,"hg38,3:g.36993578C>A",,,0.761,"COSMIC,saturation",,-0.03496,0.51497,0.371303018299845,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.96,-,-0.3159,0.0001,-22.0359,loss_of_function,-4.19826662483468,0.4550287152494168,0.7456500375477001,Pathogenic,0.9401,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11N,NP_000240:p.Leu11Asn,,,,,saturation,,1.49212,1.10408,0.7152568155560554,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4863,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9914121212668554,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11P,NP_000240:p.Leu11Pro,,,,,"saturation,clinvar",,0.96182,0.41871,2.1739338747654804,Neutral,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,964631,Uncertain significance,1,88.96,-,-0.5019,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9892890265526776,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11Q,NP_000240:p.Leu11Gln,,,,,saturation,,0.807,0.73844,0.6600936908228794,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4392,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9920448191687644,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11R,NP_000240:p.Leu11Arg,,,,,"saturation,clinvar",,1.08248,1.06667,0.4306291293894715,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,839424,Uncertain significance,2,88.96,-,-0.4987,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9909183005503572,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11S,NP_000240:p.Leu11Ser,,,,,saturation,,1.79942,1.42075,0.9437170099702568,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4489,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9898441060686884,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11T,NP_000240:p.Leu11Thr,,,,,saturation,,1.51734,1.22041,0.7330837846979523,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,88.96,-,-0.4216,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9915007166964436,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11V,NP_000240:p.Leu11Val,,,,,"saturation,clinvar",,1.47495,0.79082,0.3403451816257502,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,220598,Uncertain significance,2,88.96,-,-0.3289,0.0001,-22.0359,loss_of_function,-4.19826662483468,0.4550287152494168,0.9909682278174788,Pathogenic,0.9684,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11W,NP_000240:p.Leu11Trp,,,,,saturation,,0.50515,0.78299,-0.1050866411554957,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,88.96,-,-0.4511,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.9924487594601874,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L11Y,NP_000240:p.Leu11Tyr,,,,,saturation,,1.07609,0.78061,0.4184163033492138,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,63.0,,True,63.0,,neutral,neutral,neutral,UP,destabilizing,destabilizing,neutral,,,,88.96,-,-0.444,0.0001,-22.0359,loss_of_function,-6.95722910095885,0.11443212160701552,0.990953415016648,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12A,NP_000240:p.Asp12Ala,,,,,saturation,,4.2954,1.23129,0.7785086659816992,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.19,-,-0.1035,1.7112,-5.0477,loss_of_function,-1.52444370027034,0.7851147486734505,0.1113104951438808,Benign,0.2927,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12C,NP_000240:p.Asp12Cys,,,,,saturation,,4.61479,2.13946,1.3531737621706137,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.19,-,-0.1639,1.7112,-8.7481,loss_of_function,-2.01246819876431,0.7248676509910656,0.9747087688742035,Pathogenic,0.8103,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12E,NP_000240:p.Asp12Glu,,,,,"saturation,clinvar",,3.52223,0.81871,0.340720933352599,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,142017,Uncertain significance,2,90.19,-,-0.0402,1.7112,-3.4263,loss_of_function,-0.0166229149416172,0.9712566870834386,0.0086150828713277,Benign,0.1811,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12F,NP_000240:p.Asp12Phe,,,,,saturation,,3.49862,2.20102,0.5548316632202899,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2903,1.7112,-22.0359,loss_of_function,-2.53578283247437,0.660263951887749,0.9716346672086948,Pathogenic,0.9611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12G,NP_000240:p.Asp12Gly,,,,,"saturation,clinvar",,4.47914,2.34762,1.2282770982241489,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525868,Uncertain significance,1,90.19,-,-0.2013,1.7112,-22.0359,loss_of_function,-2.86339920082035,0.6198193934547213,0.7999029253380618,Pathogenic,0.3528,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12H,NP_000240:p.Asp12His,,,,,saturation,,4.23322,0.46088,0.2706931870458567,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.1185,1.7112,-6.1632,loss_of_function,-1.78691724000645,0.7527121356154544,0.536638438117181,Uncertain,0.4931,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12I,NP_000240:p.Asp12Ile,,,,,saturation,,4.04228,1.90748,0.8488630780468817,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2825,1.7112,-22.0359,loss_of_function,-3.29869289231315,0.5660819650411418,0.9821942051687632,Pathogenic,0.9007,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12K,NP_000240:p.Asp12Lys,,,,,saturation,,4.3456,1.51327,0.4736912414313882,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.1931,1.7112,-8.7481,loss_of_function,-2.26921702901131,0.6931717588719937,0.7413530663111357,Pathogenic,0.6999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12L,NP_000240:p.Asp12Leu,,,,,saturation,,3.89874,1.52925,0.2759987852712087,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2762,1.7112,-22.0359,loss_of_function,-3.29869289231315,0.5660819650411418,0.9457896426508507,Pathogenic,0.8233,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12M,NP_000240:p.Asp12Met,,,,,saturation,,3.81907,1.90612,0.6560590244165182,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2149,1.7112,-22.0359,loss_of_function,-3.29869289231315,0.5660819650411418,0.9707015989636932,Pathogenic,0.9213,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12N,NP_000240:p.Asp12Asn,,,,,"saturation,clinvar",,3.27177,0.71973,0.3709683168928557,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,232845,Uncertain significance,1,90.19,-,-0.0772,1.7112,-6.4262,loss_of_function,-0.960807426000573,0.8546961934125117,0.1421411856179597,Benign,0.2054,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12P,NP_000240:p.Asp12Pro,,,,,saturation,,2.48329,0.00578,1.5774854546971069,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.19,-,-0.245,1.7112,-5.9408,loss_of_function,-1.73407136935594,0.7592360096033732,0.5684681142291232,Uncertain,0.6682,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12Q,NP_000240:p.Asp12Gln,,,,,saturation,,4.39516,1.40952,0.6169346045651014,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.126,1.7112,-4.1632,loss_of_function,-1.22404481192629,0.822199282801541,0.3375576338575746,Uncertain,0.4941,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12R,NP_000240:p.Asp12Arg,,,,,saturation,,4.60039,1.7949,0.4939866711843815,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2919,1.7112,-22.0359,loss_of_function,-2.53179728618708,0.6607559714425644,0.8869907678666653,Pathogenic,0.7409,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12S,NP_000240:p.Asp12Ser,,,,,saturation,,4.4948,1.27211,0.6274498764464689,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.19,-,-0.1038,1.7112,-3.8413,loss_of_function,-1.27897251062311,0.8154184051221045,0.1116590045738428,Benign,0.1931,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12T,NP_000240:p.Asp12Thr,,,,,saturation,,4.0902,1.79184,0.740095961915668,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.19,-,-0.147,1.7112,-6.4262,loss_of_function,-1.55236369069066,0.781667998775986,0.516356687597133,Uncertain,0.5665,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12V,NP_000240:p.Asp12Val,,,,,saturation,,4.72113,1.81293,0.8255795362144638,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2372,1.7112,-22.0359,loss_of_function,-3.29869289231315,0.5660819650411418,0.952303927579986,Pathogenic,0.6834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12W,NP_000240:p.Asp12Trp,,,,,saturation,,4.08088,2.33333,0.3475441312528271,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2708,1.7112,-22.0359,loss_of_function,-2.53578283247437,0.660263951887749,0.9622145184111988,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D12Y,NP_000240:p.Asp12Tyr,,,,,saturation,,3.77104,2.04116,0.6123727213080393,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,76.4,,False,76.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.19,-,-0.2352,1.7112,-22.0359,loss_of_function,-2.53578283247437,0.660263951887749,0.9740922805653244,Pathogenic,0.7772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13A,NP_000240:p.Glu13Ala,,,,,saturation,,0.71419,0.41701,0.5145171410958771,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.089,1.5776,-5.2888,loss_of_function,-1.82509643065934,0.7479988774987054,0.2754870916482189,Benign,0.2931,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13C,NP_000240:p.Glu13Cys,,,,,saturation,,1.30061,1.43197,1.2656910050973271,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.2438,1.5776,-22.0359,loss_of_function,-2.67511338078957,0.6430634605591568,0.9609422572785769,Pathogenic,0.9673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13D,NP_000240:p.Glu13Asp,,,,,"saturation,clinvar",,0.57809,-0.35986,0.3538662745434501,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479698,Uncertain significance,1,86.95,H,-0.0643,1.5776,-7.1632,loss_of_function,-1.40412465426407,0.7999682516024242,0.3063241644310802,Benign,0.2978,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13F,NP_000240:p.Glu13Phe,,,,,saturation,,0.65414,0.75476,0.2288776683512478,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.2214,1.5776,-22.0359,loss_of_function,-3.09665075399413,0.5910242629807491,0.9007772265104006,Pathogenic,0.9709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13G,NP_000240:p.Glu13Gly,,,,,"saturation,clinvar",,1.31587,1.18946,1.0589375383381474,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,824352,Uncertain significance,2,86.95,H,-0.2002,1.5776,-22.0359,loss_of_function,-3.48793250672617,0.5427201510951173,0.8925103709853272,Pathogenic,0.4923,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13H,NP_000240:p.Glu13His,,,,,saturation,,1.47439,0.5619,0.2424935489221191,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.1449,1.5776,-8.7481,loss_of_function,-2.80965201580753,0.6264545355748674,0.805996879904504,Pathogenic,0.8274,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13I,NP_000240:p.Glu13Ile,,,,,saturation,,0.42744,0.36463,0.1772106722611188,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.2268,1.5776,-22.0359,loss_of_function,-2.3133274892233,0.6877262797753342,0.437203758241478,Uncertain,0.6635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13K,NP_000240:p.Glu13Lys,"hg19,3:g.37035075G>A, hg38,3:g.36993584G>A",,3.9770919504e-06,0.775,"cBioPortal,COSMIC,saturation,clinvar",,0.69595,0.72007,0.3797220803815221,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,192220,Uncertain significance,2,86.95,H,-0.111,1.5776,-5.2888,loss_of_function,-1.78769494008325,0.7526161277866688,0.2341747133375163,Benign,0.3324,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13L,NP_000240:p.Glu13Leu,,,,,saturation,,0.34177,0.37109,0.0709602492284028,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.2289,1.5776,-22.0359,loss_of_function,-2.29348121829512,0.6901763211706553,0.7509655373425904,Pathogenic,0.747,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13M,NP_000240:p.Glu13Met,,,,,saturation,,0.0508,-0.00952,0.4426092692936173,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.1777,1.5776,-22.0359,loss_of_function,-2.814044016718,0.6259123388025931,0.9628689789707076,Pathogenic,0.7557,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13N,NP_000240:p.Glu13Asn,,,,,saturation,,1.1318,0.15136,0.5964001764679455,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.1329,1.5776,-8.7481,loss_of_function,-1.68520044587841,0.7652691725074185,0.3960363574925328,Uncertain,0.6085,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13P,NP_000240:p.Glu13Pro,,,,,saturation,,-0.60755,-0.42857,1.112755672022474,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.2354,1.5776,-3.2246,loss_of_function,-1.48588227628221,0.7898751938661697,0.0558064683581874,Benign,0.5494,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13Q,NP_000240:p.Glu13Gln,,,,,"saturation,clinvar",,0.44237,-0.13197,0.5787306983026105,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,486850,Uncertain significance,2,86.95,H,-0.0515,1.5776,-3.3219,loss_of_function,-0.700339501648514,0.886851211306066,0.0209897926090748,Benign,0.2324,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13R,NP_000240:p.Glu13Arg,,,,,saturation,,0.97196,1.19966,0.3016397707450291,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.257,1.5776,-22.0359,loss_of_function,-2.07055216194971,0.7176971293991992,0.8076280031799903,Pathogenic,0.5644,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13S,NP_000240:p.Glu13Ser,,,,,saturation,,1.19043,0.67007,0.5109221633858396,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.1201,1.5776,-8.7481,loss_of_function,-2.12684575893361,0.7107476302514145,0.5568091906632799,Uncertain,0.4601,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13T,NP_000240:p.Glu13Thr,,,,,saturation,,1.16989,0.69694,0.4273949597228066,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.95,H,-0.1228,1.5776,-6.1632,loss_of_function,-1.90251731678852,0.738441194014217,0.1624904275110871,Benign,0.4381,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13V,NP_000240:p.Glu13Val,,,,,saturation,,1.0282,0.62415,0.3463500129578067,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.95,H,-0.108,1.5776,-6.4262,loss_of_function,-1.9366421050451,0.7342284558057268,0.1135305528563185,Benign,0.3969,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13W,NP_000240:p.Glu13Trp,,,,,saturation,,0.42285,0.21565,-0.3235017813684809,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.2315,1.5776,-22.0359,loss_of_function,-3.09665075399413,0.5910242629807491,0.967051014067498,Pathogenic,0.9933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E13Y,NP_000240:p.Glu13Tyr,,,,,saturation,,0.84255,0.84796,0.2433691994849701,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,False,98.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.95,H,-0.2223,1.5776,-22.0359,loss_of_function,-3.09665075399413,0.5910242629807491,0.9630253853848016,Pathogenic,0.9461,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14A,NP_000240:p.Thr14Ala,,,,,"saturation,clinvar",,-0.20941,0.73503,0.387732371897771,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,DOWN,neutral,neutral,neutral,1368161,Uncertain significance,1,84.79,H,0.0205,2.6777,-3.2563,gain_of_function,-0.178252457335167,0.9513033633076986,0.0028269804318386,Benign,0.0671,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14C,NP_000240:p.Thr14Cys,,,,,saturation,,0.86265,1.78741,1.167211404391166,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,84.79,H,-0.0332,2.6777,-6.7482,loss_of_function,-1.1673124174102,0.8292029519302716,0.1056554647290812,Benign,0.4492,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14D,NP_000240:p.Thr14Asp,,,,,saturation,,0.61219,1.63912,0.7839463984586889,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,84.79,H,-0.0917,2.6777,-2.5783,loss_of_function,-0.98273254829566,0.8519895157996321,0.005681889419,Benign,0.3039,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14E,NP_000240:p.Thr14Glu,,,,,saturation,,0.14964,1.1966,0.2578288485607888,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.0776,2.6777,-4.6607,loss_of_function,-0.975695013045739,0.8528583063520607,0.1273318439512046,Benign,0.2584,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14F,NP_000240:p.Thr14Phe,,,,,saturation,,-0.1572,0.8602,-0.3072449216224293,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.1826,2.6777,-22.0359,loss_of_function,-2.59252162684175,0.6532594926911693,0.5088178293553598,Uncertain,0.4307,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14G,NP_000240:p.Thr14Gly,,,,,saturation,,0.50815,1.71429,1.426269980550246,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,84.79,H,-0.081,2.6777,-8.7481,loss_of_function,-2.2725844173461,0.6927560515159763,0.3576702180643029,Uncertain,0.2453,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14H,NP_000240:p.Thr14His,,,,,saturation,,0.59244,0.65714,-0.0276505491597711,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.087,2.6777,-7.1632,loss_of_function,-2.15493003480641,0.707280599155498,0.2667381353356142,Benign,0.2861,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14I,NP_000240:p.Thr14Ile,"hg19,3:g.37035079C>T",,3.976870521e-06,0.546,"cBioPortal,saturation,clinvar",,-0.30536,0.47143,-0.6189490464132891,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,405381,Uncertain significance,2,84.79,H,-0.0203,2.6777,-6.1632,loss_of_function,-0.651256146806426,0.8929105990681068,0.1280271514430589,Benign,0.2346,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14K,NP_000240:p.Thr14Lys,,,,,"saturation,clinvar",,-0.06901,0.52687,0.2952289931962593,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,1738638,Uncertain significance,1,84.79,H,-0.0788,2.6777,-6.4262,loss_of_function,-0.820423539633424,0.8720267203452675,0.1045762381305869,Benign,0.1791,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14L,NP_000240:p.Thr14Leu,,,,,saturation,,-0.71934,0.42551,-0.8075047749725761,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.1532,2.6777,-22.0359,loss_of_function,-1.71883989639103,0.7611163497141574,0.2610255081026879,Benign,0.162,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14M,NP_000240:p.Thr14Met,,,,,saturation,,-0.77374,0.88163,-0.3021913391797104,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.1201,2.6777,-22.0359,loss_of_function,-2.14069871364743,0.709037469555776,0.8100066957785313,Pathogenic,0.1076,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14N,NP_000240:p.Thr14Asn,,,,,saturation,,0.27827,0.90544,0.5799681210924029,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,84.79,H,-0.0455,2.6777,-5.2888,loss_of_function,-0.996497359353325,0.8502902365238378,0.0158319839520414,Benign,0.1309,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14P,NP_000240:p.Thr14Pro,,,,,saturation,,0.58397,5.17517,4.978812582781643,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,84.79,H,-0.1719,2.6777,-8.7481,loss_of_function,-2.30937393503301,0.6882143498747452,0.7540187996602294,Pathogenic,0.3197,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14Q,NP_000240:p.Thr14Gln,,,,,saturation,,-0.27751,1.20714,0.2725093171267911,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.0646,2.6777,-7.1632,loss_of_function,-1.28140423909137,0.8151182058841228,0.2815121035219206,Benign,0.2009,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14R,NP_000240:p.Thr14Arg,,,,,"saturation,clinvar",,0.02042,0.11259,-0.118085907563824,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,2586633,Uncertain significance,1,84.79,H,-0.0935,2.6777,-8.7481,loss_of_function,-2.51266936533465,0.6631173318242943,0.3380620342834147,Uncertain,0.1956,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14S,NP_000240:p.Thr14Ser,,,,,saturation,,0.75314,0.74728,0.853726202170317,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,neutral,,,DOWN,neutral,neutral,neutral,,,,84.79,H,0.0593,2.6777,-2.7482,gain_of_function,-1.13419365931684,0.8332914947393465,0.0197804926509841,Benign,0.113,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14V,NP_000240:p.Thr14Val,,,,,saturation,,0.18757,0.34898,-0.3553840179591144,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,0.0038,2.6777,-3.8902,gain_of_function,-0.448782924975946,0.9179061146853188,0.0010422215291806,Benign,0.1416,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14W,NP_000240:p.Thr14Trp,,,,,saturation,,0.51158,0.70272,-0.7978380320476042,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.1755,2.6777,-22.0359,loss_of_function,-2.59252162684175,0.6532594926911693,0.7965439142976893,Pathogenic,0.7619,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T14Y,NP_000240:p.Thr14Tyr,,,,,saturation,,0.29965,0.84422,-0.1037706446577074,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,66.9,,False,66.9,,uncertain,,,UP,neutral,neutral,neutral,,,,84.79,H,-0.1841,2.6777,-22.0359,loss_of_function,-2.13733715481717,0.7094524572538049,0.6554392411690712,Uncertain,0.4903,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15A,NP_000240:p.Val15Ala,,,,,"saturation,clinvar",,0.12572,0.75816,0.4420446536819822,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,220145,Uncertain significance,2,84.34,H,-0.3134,0.3972,-22.0393,loss_of_function,-4.65015811904106,0.3992422719923535,0.9789794026471186,Pathogenic,0.9441,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15C,NP_000240:p.Val15Cys,,,,,saturation,,0.93235,1.68265,1.1432820614325752,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.3413,0.3972,-22.0393,loss_of_function,-4.65015811904106,0.3992422719923535,0.9834624410321334,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15D,NP_000240:p.Val15Asp,,,,,saturation,,0.44747,0.98503,0.4693037243149517,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.48,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9914617497111384,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15E,NP_000240:p.Val15Glu,,,,,saturation,,-0.33956,0.75578,0.1601472017898497,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.34,H,-0.4373,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9744373903644912,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15F,NP_000240:p.Val15Phe,,,,,saturation,,-0.73857,0.75646,-0.0053387956305744,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.3906,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9934237847007952,Pathogenic,0.9822,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15G,NP_000240:p.Val15Gly,,,,,"saturation,clinvar",,1.34114,2.26497,1.2024807978414025,Uncertain,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2808918,Uncertain significance,1,84.34,H,-0.4392,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9921983017542836,Pathogenic,0.9664,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15H,NP_000240:p.Val15His,,,,,saturation,,0.44725,0.99082,0.1315251116365456,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.483,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9932913417436482,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15I,NP_000240:p.Val15Ile,,,,,saturation,,-0.53171,-0.27007,-0.288840854945212,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.2489,0.3972,-22.0393,loss_of_function,-3.24802171565706,0.5723373709461766,0.9177311080499588,Pathogenic,0.4578,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15K,NP_000240:p.Val15Lys,,,,,saturation,,-0.37356,0.92007,0.2758884161602876,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.4763,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9929321081250448,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15L,NP_000240:p.Val15Leu,,,,,"saturation,clinvar",,-0.86666,0.16122,-0.332621755363327,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"644911, 576391","Uncertain significance, Uncertain significance","2, 1",84.34,H,-0.222,0.3972,-3.9967,loss_of_function,-2.11681560747817,0.711985862177004,0.551571785771704,Uncertain,0.942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15M,NP_000240:p.Val15Met,,,,,"saturation,clinvar",,-0.65516,0.74184,0.0924234125542322,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,233273,Conflicting classifications of pathogenicity,1,84.34,H,-0.3231,0.3972,-22.0393,loss_of_function,-3.591045609521,0.5299907385439344,0.9667713248515016,Pathogenic,0.9486,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15N,NP_000240:p.Val15Asn,,,,,saturation,,0.80757,1.02993,0.4747147453676237,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.4679,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9932951399893688,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15P,NP_000240:p.Val15Pro,,,,,saturation,,0.76884,5.69456,5.164239033632234,Uncertain,Uncertain,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.5177,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.992403007684708,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15Q,NP_000240:p.Val15Gln,,,,,saturation,,-0.56238,-0.08605,0.4221254954395215,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.34,H,-0.4479,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9938535826768636,Pathogenic,0.9919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15R,NP_000240:p.Val15Arg,,,,,saturation,,-0.05514,1.05272,0.0854024751712151,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.4973,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9922884498799492,Pathogenic,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15S,NP_000240:p.Val15Ser,,,,,saturation,,1.28877,1.44796,0.7821908637626381,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.4171,0.3972,-22.0393,loss_of_function,-4.65015811904106,0.3992422719923535,0.9741451856627514,Pathogenic,0.9763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15T,NP_000240:p.Val15Thr,,,,,saturation,,0.69478,0.63639,0.3294348247930628,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.34,H,-0.2565,0.3972,-7.1665,loss_of_function,-3.35847027316708,0.5587023893956206,0.6200478581686732,Uncertain,0.7022,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15W,NP_000240:p.Val15Trp,,,,,saturation,,0.20712,0.63469,-0.2917091909425606,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.4311,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9928075445017372,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V15Y,NP_000240:p.Val15Tyr,,,,,saturation,,-0.59401,0.64694,0.110613635323441,Neutral,Neutral,False,0.094,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,False,61.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.34,H,-0.434,0.3972,-22.0393,loss_of_function,-5.94315945928291,0.23962000243539222,0.9918693751623796,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16A,NP_000240:p.Val16Ala,,,,,saturation,,0.41861,0.65374,0.721791589054393,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.2211,0.6639,-8.7514,loss_of_function,-4.38965371312624,0.4314017935702149,0.8043795207420115,Pathogenic,0.9804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16C,NP_000240:p.Val16Cys,,,,,saturation,,1.00164,1.0415,1.259266476933927,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.3168,0.6639,-22.0393,loss_of_function,-4.38965371312624,0.4314017935702149,0.9717902385967854,Pathogenic,0.9924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16D,NP_000240:p.Val16Asp,,,,,saturation,,0.53774,1.25476,0.734772091937963,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.4555,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.985379073149718,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16E,NP_000240:p.Val16Glu,,,,,saturation,,0.01073,0.43163,0.3700114642299407,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.44,H,-0.4128,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9846787785396438,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16F,NP_000240:p.Val16Phe,,,,,saturation,,-0.21915,0.19592,0.2040395982141951,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.366,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9211252297289668,Pathogenic,0.981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16G,NP_000240:p.Val16Gly,"hg38,3:g.36993594T>G",,,0.885,"COSMIC,saturation,clinvar",,1.20168,2.07245,1.542197797551692,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,449059,Uncertain significance,2,86.44,H,-0.4147,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9842343823903232,Pathogenic,0.9787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16H,NP_000240:p.Val16His,,,,,saturation,,0.39156,1.02245,0.2503134084248426,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.4584,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9834751735610692,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16I,NP_000240:p.Val16Ile,,,,,saturation,,-0.66393,-0.16769,-0.2144132973401308,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.1258,0.6639,-2.7072,loss_of_function,-0.606416026766881,0.8984461553781875,0.0227548491092248,Benign,0.1735,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16K,NP_000240:p.Val16Lys,,,,,saturation,,-0.22904,0.97483,0.3515504591324203,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.4517,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.976031067082844,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16L,NP_000240:p.Val16Leu,"hg19,3:g.37035084G>C",,3.9771235851e-06,0.847,"cBioPortal,saturation,clinvar",,-0.73118,-0.45102,-0.3089280722636128,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455439,Uncertain significance,2,86.44,H,-0.2895,0.6639,-22.0393,loss_of_function,-3.01260284137857,0.6014000593126472,0.9842515215877532,Pathogenic,0.9795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16M,NP_000240:p.Val16Met,"hg19,3:g.37035084G>A, hg38,3:g.36993593G>A",,,0.884,"cBioPortal,COSMIC,saturation,clinvar",,-0.52769,0.29116,0.2292488323695679,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,232514,Uncertain significance,2,86.44,H,-0.2986,0.6639,-22.0393,loss_of_function,-3.01260284137857,0.6014000593126472,0.9826986419344856,Pathogenic,0.9697,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16N,NP_000240:p.Val16Asn,,,,,saturation,,0.92967,0.87483,0.6684280581716856,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.4433,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9855310198520892,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16P,NP_000240:p.Val16Pro,,,,,saturation,,3.68863,6.86599,6.24298328813663,Destabilizing,Destabilizing,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.4932,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9829559369248562,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16Q,NP_000240:p.Val16Gln,,,,,saturation,,-0.03825,0.25102,0.6000116987930778,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.44,H,-0.4234,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9246147227920084,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16R,NP_000240:p.Val16Arg,,,,,saturation,,0.03635,1.24082,0.1461885963292675,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.4727,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.8880990207055941,Pathogenic,0.9713,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16S,NP_000240:p.Val16Ser,,,,,saturation,,0.85684,1.41531,1.0201506253715498,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.3925,0.6639,-22.0393,loss_of_function,-3.85175628093961,0.49780575328956966,0.8190767057843644,Pathogenic,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16T,NP_000240:p.Val16Thr,,,,,saturation,,-0.00116,1.11122,0.6447110380684903,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,H,-0.2401,0.6639,-8.7514,loss_of_function,-3.41099905842207,0.5522176599073252,0.2719512566439018,Benign,0.9164,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16W,NP_000240:p.Val16Trp,,,,,saturation,,0.06327,0.36293,-0.2781605546252214,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.4066,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.9791225453909052,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V16Y,NP_000240:p.Val16Tyr,,,,,saturation,,-0.03138,-0.45578,0.296959497003732,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.44,H,-0.4095,0.6639,-22.0393,loss_of_function,-4.99210092146411,0.35702910137705807,0.8776060537976315,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17A,NP_000240:p.Asn17Ala,,,,,saturation,,0.59859,0.40544,0.1993820368340709,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.4,H,-0.3092,0.2037,-22.0426,loss_of_function,-4.5962515480164,0.40589709047025263,0.940204761718796,Pathogenic,0.9414,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17C,NP_000240:p.Asn17Cys,,,,,saturation,,1.38004,0.77245,0.9620169524447588,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.4,H,-0.359,0.2037,-22.0426,loss_of_function,-5.30469150769622,0.3184394903197505,0.9925774189642964,Pathogenic,0.9174,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17D,NP_000240:p.Asn17Asp,"hg38,3:g.36993596A>G",,,0.821,"COSMIC,saturation",,0.8693,0.63605,0.719757726419068,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.4,H,-0.2293,0.2037,-5.7549,loss_of_function,-2.30383219750807,0.688898482747225,0.806733596212658,Pathogenic,0.8296,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17E,NP_000240:p.Asn17Glu,,,,,saturation,,1.13862,1.34796,0.4344843524981684,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.2717,0.2037,-8.7547,loss_of_function,-3.78290059066276,0.506306055038558,0.8998748153849082,Pathogenic,0.9811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17F,NP_000240:p.Asn17Phe,,,,,saturation,,0.48472,0.52823,-0.5385948495037013,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3663,0.2037,-22.0426,loss_of_function,-5.7574319737345,0.26254824066660687,0.9928437984698208,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17G,NP_000240:p.Asn17Gly,,,,,saturation,,1.36039,1.68299,1.570255625134226,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.4,H,-0.2721,0.2037,-8.7547,loss_of_function,-6.26517744634921,0.1998665696013067,0.9630854731229098,Pathogenic,0.9006,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17H,NP_000240:p.Asn17His,,,,,saturation,,1.06334,0.39558,-0.1040279012365419,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3141,0.2037,-22.0426,loss_of_function,-4.64177428849194,0.4002772640052629,0.960592252303714,Pathogenic,0.8321,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17I,NP_000240:p.Asn17Ile,,,,,"saturation,clinvar",,4.04713,1.50782,-0.0721818486899522,Uncertain,Uncertain,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1745333,Uncertain significance,1,86.4,H,-0.3594,0.2037,-22.0426,loss_of_function,-6.26517744634921,0.1998665696013067,0.9868861265675052,Pathogenic,0.9785,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17K,NP_000240:p.Asn17Lys,,,,,"saturation,clinvar",,1.20864,1.10986,0.2676097666208937,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3075502,Uncertain significance,1,86.4,H,-0.3124,0.2037,-22.0426,loss_of_function,-4.90240532504255,0.36810210975259205,0.9463631310220356,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17L,NP_000240:p.Asn17Leu,,,,,saturation,,0.32452,0.60782,-0.6846154049728459,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3658,0.2037,-22.0426,loss_of_function,-6.26517744634921,0.1998665696013067,0.980876946521724,Pathogenic,0.9237,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17M,NP_000240:p.Asn17Met,,,,,saturation,,0.23178,0.36361,-0.3019617204200575,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.32,0.2037,-22.0426,loss_of_function,-6.26517744634921,0.1998665696013067,0.9888113733929254,Pathogenic,0.9706,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17P,NP_000240:p.Asn17Pro,,,,,saturation,,3.74824,10.82007,4.934397086168186,Destabilizing,Destabilizing,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.4,H,-0.4748,0.2037,-22.0426,loss_of_function,-6.26517744634921,0.1998665696013067,0.994175292195881,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17Q,NP_000240:p.Asn17Gln,,,,,saturation,,0.80728,0.82653,0.2908977773673188,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3031,0.2037,-22.0426,loss_of_function,-3.66241583953483,0.5211800144255208,0.9350050009619416,Pathogenic,0.9657,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17R,NP_000240:p.Asn17Arg,,,,,saturation,,1.16787,1.82041,-0.3609382853145992,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3445,0.2037,-22.0426,loss_of_function,-4.84145730881331,0.37562620147061465,0.9467722887510216,Pathogenic,0.9737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17S,NP_000240:p.Asn17Ser,,,,,"saturation,clinvar",,1.41641,1.24286,0.9627277505624798,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483588,Uncertain significance,2,86.4,H,-0.2113,0.2037,-8.7547,loss_of_function,-4.45269041611364,0.42361985144604447,0.602294624075692,Uncertain,0.4278,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17T,NP_000240:p.Asn17Thr,,,,,saturation,,2.54476,1.58027,0.6219520854300026,Uncertain,Uncertain,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.4,H,-0.3286,0.2037,-22.0426,loss_of_function,-5.30469150769622,0.3184394903197505,0.9710541326632086,Pathogenic,0.9105,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17V,NP_000240:p.Asn17Val,,,,,saturation,,1.87695,0.7983,0.040437114959812,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3528,0.2037,-22.0426,loss_of_function,-6.26517744634921,0.1998665696013067,0.9910168355732718,Pathogenic,0.9696,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17W,NP_000240:p.Asn17Trp,,,,,saturation,,0.58044,0.0068,-1.002325322102538,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3714,0.2037,-22.0426,loss_of_function,-5.7574319737345,0.26254824066660687,0.9935935888659436,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N17Y,NP_000240:p.Asn17Tyr,,,,,saturation,,0.58084,0.24558,-0.4045437375248034,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.4,H,-0.3499,0.2037,-22.0426,loss_of_function,-5.7574319737345,0.26254824066660687,0.9948201898805724,Pathogenic,0.8898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18A,NP_000240:p.Arg18Ala,,,,,saturation,,0.17673,1.81327,1.4639467527256451,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3272,0.8871,-22.0426,loss_of_function,-4.89030636757821,0.3695957377865505,0.9634518714949544,Pathogenic,0.9863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18C,NP_000240:p.Arg18Cys,"hg19,3:g.37035090C>T, hg38,3:g.36993599C>T",,3.18192665659e-05,0.833,"cBioPortal,COSMIC,saturation,clinvar",,0.51805,2.06327,2.089032803476334,Uncertain,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,134656,Conflicting classifications of pathogenicity,1,84.6,H,-0.3361,0.8871,-22.0426,loss_of_function,-4.89030636757821,0.3695957377865505,0.9885991034896924,Pathogenic,0.8923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18D,NP_000240:p.Arg18Asp,,,,,saturation,,2.07032,4.21259,2.927143066901832,Uncertain,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.4183,0.8871,-22.0426,loss_of_function,-4.21486830151656,0.4529792221607887,0.9911385169402204,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18E,NP_000240:p.Arg18Glu,,,,,saturation,,0.51015,2.84762,1.9101381089285008,Uncertain,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3635,0.8871,-22.0426,loss_of_function,-4.21486830151656,0.4529792221607887,0.983576605587432,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18F,NP_000240:p.Arg18Phe,,,,,saturation,,1.53028,1.15612,0.6026542804384829,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.6,H,-0.3594,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.9914727673242862,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18G,NP_000240:p.Arg18Gly,,,,,"saturation,clinvar",,1.41132,3.44184,2.874941264782932,Uncertain,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483546,Uncertain significance,2,84.6,H,-0.3626,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.990014556782318,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18H,NP_000240:p.Arg18His,,,,,"saturation,clinvar",,0.41457,0.98061,1.307040748735047,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479684,Uncertain significance,2,84.6,H,-0.297,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.9740270743619124,Pathogenic,0.8629,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18I,NP_000240:p.Arg18Ile,,,,,saturation,,-0.44264,0.07959,0.3726249165342316,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3566,0.8871,-22.0426,loss_of_function,-4.43799179637521,0.42543441030919626,0.9838799934038912,Pathogenic,0.9826,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18K,NP_000240:p.Arg18Lys,,,,,saturation,,-0.18578,1.49932,1.4055839035963669,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.6,H,-0.1165,0.8871,-2.2471,loss_of_function,-1.77638406777443,0.7540124659438011,0.1009106976431197,Benign,0.5198,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18L,NP_000240:p.Arg18Leu,,,,,saturation,,-1.28278,0.76871,0.2238757267634983,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.2538,0.8871,-7.1699,loss_of_function,-3.40625214084231,0.5528036714866631,0.8117739374130639,Pathogenic,0.9337,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18M,NP_000240:p.Arg18Met,,,,,saturation,,-1.19488,1.63469,0.6372425611244187,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.2955,0.8871,-22.0426,loss_of_function,-4.43799179637521,0.42543441030919626,0.9267239476897576,Pathogenic,0.9814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18N,NP_000240:p.Arg18Asn,,,,,saturation,,0.84815,2.33469,1.905002853222378,Uncertain,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3421,0.8871,-22.0426,loss_of_function,-4.21486830151656,0.4529792221607887,0.9727614156861244,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18P,NP_000240:p.Arg18Pro,,,,,saturation,,3.35843,9.87449,7.593868436751761,Destabilizing,Destabilizing,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.4693,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.9966230610895456,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18Q,NP_000240:p.Arg18Gln,,,,,saturation,,0.58902,0.91156,1.5882855035668089,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.2223,0.8871,-6.4329,loss_of_function,-2.99293751719585,0.6038277626567381,0.8928534539646082,Pathogenic,0.6579,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18S,NP_000240:p.Arg18Ser,"hg19,3:g.37035090C>A, hg38,3:g.36993599C>A",,,0.822,"cBioPortal,COSMIC,saturation",,0.64479,2.6602,2.362238206125278,Uncertain,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3278,0.8871,-22.0426,loss_of_function,-4.35426950425134,0.43577000847557046,0.9548784370112172,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18T,NP_000240:p.Arg18Thr,,,,,saturation,,-0.21434,1.35306,1.7587837484207902,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3321,0.8871,-22.0426,loss_of_function,-4.89030636757821,0.3695957377865505,0.9898921096361872,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18V,NP_000240:p.Arg18Val,,,,,saturation,,0.08024,0.39694,0.667529050101846,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.6,H,-0.3437,0.8871,-22.0426,loss_of_function,-4.43799179637521,0.42543441030919626,0.9923569268199351,Pathogenic,0.9826,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18W,NP_000240:p.Arg18Trp,,,,,saturation,,0.40356,-0.07789,0.3229123944575313,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.6,H,-0.345,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.9925069241224638,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R18Y,NP_000240:p.Arg18Tyr,,,,,saturation,,2.23187,0.39728,0.8934391543516301,Uncertain,Uncertain,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,38.5,,False,38.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.6,H,-0.3487,0.8871,-22.0426,loss_of_function,-5.17678050797131,0.334230227298856,0.9925955910984914,Pathogenic,0.9896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19A,NP_000240:p.Ile19Ala,,,,,saturation,,0.70003,1.01803,0.7025889248080882,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.3514,0.0662,-8.7547,loss_of_function,-7.00651578352137,0.10834763284067644,0.9924038320235726,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19C,NP_000240:p.Ile19Cys,,,,,saturation,,1.19608,1.29252,1.3590918347611474,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.3992,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9937912921029964,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19D,NP_000240:p.Ile19Asp,,,,,saturation,,0.96121,1.38095,0.7885406655014467,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.5432,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9946307671654498,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19E,NP_000240:p.Ile19Glu,,,,,saturation,,0.42308,0.87891,0.4967474027753632,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.5241,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9934151921006354,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19F,NP_000240:p.Ile19Phe,,,,,"saturation,clinvar",,0.10854,0.49796,0.2783017434469126,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90274,Pathogenic,3,84.63,H,-0.3802,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9940296478889148,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19G,NP_000240:p.Ile19Gly,,,,,saturation,,1.49933,1.94354,1.4728086312833744,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.5099,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9942641237360972,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19H,NP_000240:p.Ile19His,,,,,saturation,,0.5711,0.84456,0.345687491314981,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.5098,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9938788027969752,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19K,NP_000240:p.Ile19Lys,,,,,saturation,,0.10059,0.81871,0.5047144780441709,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.63,H,-0.5167,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9943999355087392,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19L,NP_000240:p.Ile19Leu,,,,,"saturation,clinvar",,-0.111,0.11973,-0.1532545880641855,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,825846,Uncertain significance,2,84.63,H,-0.3044,0.0662,-22.0426,loss_of_function,-4.22704487200595,0.4514760127236096,0.9897016555231408,Pathogenic,0.948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19M,NP_000240:p.Ile19Met,"hg19,3:g.36993604C>G, hg19,3:g.37035095C>G, hg38,3:g.36993604C>G",,,0.750,"cBioPortal,COSMIC,saturation,clinvar",,-0.28827,0.62925,0.3472012553399151,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,924351,Uncertain significance,1,84.63,H,-0.31,0.0662,-22.0426,loss_of_function,-3.11765656974418,0.5884310746525055,0.9580515520938432,Pathogenic,0.9328,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19N,NP_000240:p.Ile19Asn,,,,,"saturation,clinvar",,0.70264,0.84694,0.6828506960703231,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1749165,Uncertain significance,1,84.63,H,-0.4563,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9926293838893344,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19P,NP_000240:p.Ile19Pro,,,,,saturation,,3.72853,9.64626,5.517921629753087,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.5633,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.99455535702075,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19Q,NP_000240:p.Ile19Gln,,,,,saturation,,0.4833,0.47823,0.6303427862729563,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.4839,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9929121149727488,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19R,NP_000240:p.Ile19Arg,,,,,saturation,,0.46992,0.76224,0.195308504128906,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.63,H,-0.5435,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9937691271717786,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19S,NP_000240:p.Ile19Ser,,,,,saturation,,0.8707,1.29422,0.9860948188082758,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.4598,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9940999439217446,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19T,NP_000240:p.Ile19Thr,,,,,saturation,,1.09086,0.97041,0.7077332225888202,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.3766,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.9942270768602745,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19V,NP_000240:p.Ile19Val,,,,,saturation,,0.8685,0.61837,0.2869394318845142,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.63,H,-0.1916,0.0662,-7.7548,loss_of_function,-2.87921904645216,0.6178664181675355,0.8657170809855259,Pathogenic,0.7169,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19W,NP_000240:p.Ile19Trp,,,,,saturation,,0.00732,0.56463,-0.1973005286358203,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.63,H,-0.4691,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.99292654639265,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I19Y,NP_000240:p.Ile19Tyr,,,,,saturation,,0.11236,0.27381,0.3030655177221086,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.63,H,-0.4779,0.0662,-22.0426,loss_of_function,-7.00651578352137,0.10834763284067644,0.99368506674742,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20C,NP_000240:p.Ala20Cys,,,,,saturation,,0.26884,0.75544,0.7772791999919132,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3283,0.1228,-22.0459,loss_of_function,-4.11001333350947,0.46592366966189,0.9080529563848414,Pathogenic,0.9779,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20D,NP_000240:p.Ala20Asp,,,,,saturation,,0.70549,0.17755,0.2982140578175524,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.41,0.1228,-22.0459,loss_of_function,-6.57417246753042,0.16172083453693273,0.987995872946702,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20E,NP_000240:p.Ala20Glu,,,,,saturation,,-0.09585,0.87313,-0.0483896146557227,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3957,0.1228,-22.0459,loss_of_function,-6.57417246753042,0.16172083453693273,0.9809414885171333,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20F,NP_000240:p.Ala20Phe,,,,,saturation,,-0.90392,-1.22619,-0.2990592712523687,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3784,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9830526924948956,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20G,NP_000240:p.Ala20Gly,,,,,"saturation,clinvar",,0.77663,1.65748,0.8561762790042595,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3230788,Uncertain significance,1,83.77,H,-0.3218,0.1228,-22.0459,loss_of_function,-5.73580009621151,0.2652187169279478,0.9623755520233072,Pathogenic,0.9632,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20H,NP_000240:p.Ala20His,,,,,saturation,,-0.77899,-0.19388,-0.2484702930962534,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3825,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9871758882658384,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20I,NP_000240:p.Ala20Ile,,,,,saturation,,-1.04523,0.07483,-0.4440422332258459,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3679,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9864318075131144,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20K,NP_000240:p.Ala20Lys,,,,,saturation,,-0.34702,0.03571,-0.125441261360707,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.4003,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9515375691779252,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20L,NP_000240:p.Ala20Leu,,,,,saturation,,-0.5505,-0.4602,-0.7062854225193993,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3727,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9885797355978144,Pathogenic,0.9483,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20M,NP_000240:p.Ala20Met,,,,,saturation,,-1.53583,-0.8381,-0.3409072812384267,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3314,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.988381316046151,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20N,NP_000240:p.Ala20Asn,,,,,saturation,,-0.0197,0.94694,0.0966803428301621,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3126,0.1228,-8.7581,loss_of_function,-5.72713888117373,0.26628795232502234,0.784713172837852,Pathogenic,0.9867,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20P,NP_000240:p.Ala20Pro,,,,,"saturation,clinvar",,1.96909,9.25918,5.291231598552307,Uncertain,Uncertain,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1364107,Uncertain significance,1,83.77,H,-0.4498,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.983976062349647,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20Q,NP_000240:p.Ala20Gln,,,,,saturation,,-0.30716,0.85544,0.0257501675039312,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3779,0.1228,-22.0459,loss_of_function,-6.57417246753042,0.16172083453693273,0.97705957687557,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20R,NP_000240:p.Ala20Arg,,,,,saturation,,-0.43523,0.46054,-0.4393206856043136,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.411,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9820970775441658,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20S,NP_000240:p.Ala20Ser,,,,,saturation,,0.53397,0.89796,0.4214071707895517,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.77,H,-0.215,0.1228,-6.7582,loss_of_function,-2.33499540984186,0.6850513539588862,0.5628699476571868,Uncertain,0.6612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20T,NP_000240:p.Ala20Thr,,,,,"saturation,clinvar",,0.40536,0.08129,0.1651796154105889,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,489901,Uncertain significance,1,83.77,H,-0.2312,0.1228,-8.7581,loss_of_function,-3.55761167413817,0.5341181902950903,0.9066117444064936,Pathogenic,0.9811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20V,NP_000240:p.Ala20Val,,,,,"saturation,clinvar",,-0.11066,-0.54864,-0.1977403870811034,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,919247,Uncertain significance,2,83.77,H,-0.296,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9811809751667224,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20W,NP_000240:p.Ala20Trp,,,,,saturation,,-3.13146,-0.75408,-0.7462800425742028,Uncertain,Uncertain,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3893,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9839170661191012,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A20Y,NP_000240:p.Ala20Tyr,,,,,saturation,,-0.71212,-1.13163,-0.2271320940808191,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,False,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3976,0.1228,-22.0459,loss_of_function,-6.81175559513915,0.13239096699769776,0.9842019498670278,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21C,NP_000240:p.Ala21Cys,,,,,saturation,,3.07492,2.02551,1.4068551697652587,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3353,0.0472,-22.0459,loss_of_function,-4.22704487200595,0.4514760127236096,0.9808287784302548,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21D,NP_000240:p.Ala21Asp,,,,,saturation,,9.72947,6.89082,4.006590068231683,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.417,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.987304376998325,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21E,NP_000240:p.Ala21Glu,,,,,"saturation,clinvar",,10.06624,7.4983,4.618645623392464,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90297,Pathogenic,3,85.33,H,-0.4026,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9942548408307854,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21F,NP_000240:p.Ala21Phe,,,,,saturation,,17.10876,4.21735,3.544890687060335,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3854,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9939345773504455,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21G,NP_000240:p.Ala21Gly,,,,,"saturation,clinvar",,1.74951,2.19388,1.9480493784253528,Uncertain,Neutral,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2858161,Likely pathogenic,1,85.33,H,-0.3288,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9866648487398304,Pathogenic,0.9708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21H,NP_000240:p.Ala21His,,,,,saturation,,17.58464,10.50272,3.634007120714272,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3895,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.993367572439994,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21I,NP_000240:p.Ala21Ile,,,,,saturation,,6.68752,9.4449,3.253930027521349,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3071,0.0472,-8.7581,loss_of_function,-7.00704628775994,0.1082821415778798,0.993316942405998,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21K,NP_000240:p.Ala21Lys,,,,,saturation,,5.93383,18.10816,4.691301190390058,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.4073,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9935517973023626,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21L,NP_000240:p.Ala21Leu,,,,,saturation,,8.91649,7.42313,3.18206532626375,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3796,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9950828700815634,Pathogenic,0.9809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21M,NP_000240:p.Ala21Met,,,,,saturation,,2.2717,5.29864,3.1164957037656227,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3384,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9925325742801508,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21N,NP_000240:p.Ala21Asn,,,,,saturation,,8.14996,5.80816,2.498465529398016,Destabilizing,Uncertain,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3874,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9931503845257852,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21P,NP_000240:p.Ala21Pro,,,,,"saturation,clinvar",,5.18133,9.45748,7.074526157719713,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1511560,Likely pathogenic,1,85.33,H,-0.4567,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9951808098699048,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21Q,NP_000240:p.Ala21Gln,,,,,saturation,,7.96379,6.3966,3.512176721309811,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3848,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.993611557921983,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21R,NP_000240:p.Ala21Arg,,,,,saturation,,6.80504,10.35816,3.829473338779393,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.418,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9938552972057388,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21S,NP_000240:p.Ala21Ser,,,,,"saturation,clinvar",,1.35688,2.14864,1.6809166609777857,Uncertain,Neutral,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,862374,Conflicting classifications of pathogenicity,1,85.33,H,-0.3,0.0472,-22.0459,loss_of_function,-4.22704487200595,0.4514760127236096,0.995814819700577,Pathogenic,0.8635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21T,NP_000240:p.Ala21Thr,"hg19,3:g.37035099G>A",,,0.899,"cBioPortal,saturation,clinvar",,3.25767,2.87041,2.0848812245722024,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1752174,Uncertain significance,1,85.33,H,-0.3059,0.0472,-22.0459,loss_of_function,-4.22704487200595,0.4514760127236096,0.9945113763265052,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21V,NP_000240:p.Ala21Val,,,,,"saturation,clinvar",,4.86729,3.23265,1.98292414903068,Destabilizing,Uncertain,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90298,Pathogenic,3,85.33,H,-0.2351,0.0472,-8.7581,loss_of_function,-7.00704628775994,0.1082821415778798,0.9945985499961458,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21W,NP_000240:p.Ala21Trp,,,,,saturation,,19.00798,13.27687,4.090197735116933,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.3963,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9945747906012006,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A21Y,NP_000240:p.Ala21Tyr,,,,,saturation,,19.74434,6.33435,3.9537894533265447,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.4045,0.0472,-22.0459,loss_of_function,-7.00704628775994,0.1082821415778798,0.9941111570640953,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22A,NP_000240:p.Gly22Ala,"hg19,3:g.37035103G>C, hg38,3:g.36993612G>C",0.0001911193221635,0.0001233075050516,0.907,"cBioPortal,COSMIC,saturation,clinvar",,-0.99741,-1.06599,-1.0604913990749365,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90306,Benign,3,81.23,H,-0.2925,0.1143,-6.4396,loss_of_function,-4.07412563088682,0.47035404135875253,0.857536638224534,Pathogenic,0.9578,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22C,NP_000240:p.Gly22Cys,,,,,saturation,,-0.48421,0.10102,-0.3618366080400731,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4319,0.1143,-22.0493,loss_of_function,-5.69943040628869,0.2697085904245039,0.9863262740684304,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22D,NP_000240:p.Gly22Asp,,,,,saturation,,-0.4063,-0.96259,0.4614183394255861,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4325,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9902906365416584,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22E,NP_000240:p.Gly22Glu,,,,,"saturation,clinvar",,-0.89765,-1.01599,-0.3528591628155442,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2200574,Uncertain significance,2,81.23,H,-0.4318,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9914431380786256,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22F,NP_000240:p.Gly22Phe,,,,,saturation,,-0.94135,-0.27551,-1.5550479941135464,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.47,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9884663197284816,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22H,NP_000240:p.Gly22His,,,,,saturation,,0.94212,-1.07925,-1.0557180089452771,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4448,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9880609610495794,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22I,NP_000240:p.Gly22Ile,,,,,saturation,,0.2992,0.87279,-1.2230549215069475,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.5157,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9866153289048918,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22K,NP_000240:p.Gly22Lys,,,,,saturation,,-1.06799,-0.07857,-0.5401027282364124,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4647,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9908356262695353,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22L,NP_000240:p.Gly22Leu,,,,,saturation,,-2.79984,-1.17551,-1.5937637343402422,Uncertain,Uncertain,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4839,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.990171344771229,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22M,NP_000240:p.Gly22Met,,,,,saturation,,-2.66379,-0.64524,-1.2759565393872374,Uncertain,Uncertain,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.3543,0.1143,-8.7614,loss_of_function,-6.89047452829232,0.12267303834909987,0.988447147083277,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22N,NP_000240:p.Gly22Asn,,,,,saturation,,-0.11092,-0.24456,-0.5543356563297458,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4328,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9897079163906928,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22P,NP_000240:p.Gly22Pro,,,,,saturation,,4.72245,3.74932,5.702267641037297,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.5298,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9886722608681328,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22Q,NP_000240:p.Gly22Gln,,,,,saturation,,-0.66144,-0.51769,-0.6933529164552299,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4357,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9906407172451026,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22R,NP_000240:p.Gly22Arg,,,,,"COSMIC,saturation,clinvar",,-0.97852,-0.13163,-1.223226779058048,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"3230789, 2850557","Uncertain significance, Uncertain significance","1, 1",81.23,H,-0.4487,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.99047719115444,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22S,NP_000240:p.Gly22Ser,,,,,saturation,,-0.76046,-0.83435,0.0461418570883209,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.3781,0.1143,-22.0493,loss_of_function,-5.69943040628869,0.2697085904245039,0.9641808011309116,Pathogenic,0.9759,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22T,NP_000240:p.Gly22Thr,,,,,saturation,,0.6468,-0.09932,-0.5527652228801805,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.455,0.1143,-22.0493,loss_of_function,-5.69943040628869,0.2697085904245039,0.970671269648934,Pathogenic,0.9917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22V,NP_000240:p.Gly22Val,,,,,"saturation,clinvar",,0.09027,-0.07959,-1.2256568713867926,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,942760,Uncertain significance,1,81.23,H,-0.459,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.989495868798504,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22W,NP_000240:p.Gly22Trp,,,,,saturation,,0.42641,-0.65884,-1.6987901207579936,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4698,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.988381316046151,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G22Y,NP_000240:p.Gly22Tyr,,,,,saturation,,0.60849,0.13878,-1.2808063794536373,Neutral,Neutral,False,0.053,,,,,,,,,,14.0,,False,14.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.23,H,-0.4704,0.1143,-22.0493,loss_of_function,-6.89047452829232,0.12267303834909987,0.9902267807582829,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23A,NP_000240:p.Glu23Ala,,,,,"saturation,clinvar",,-0.14206,-0.03741,0.2157658894821323,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,826689,Uncertain significance,1,83.77,H,-0.3154,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9834597614080264,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23C,NP_000240:p.Glu23Cys,,,,,saturation,,-0.10676,0.65204,1.111022218552573,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.77,H,-0.3847,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.986806431761285,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23D,NP_000240:p.Glu23Asp,,,,,"saturation,clinvar",,0.62475,0.47789,0.4702206112133722,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"2586631, 90335","Likely pathogenic, Conflicting classifications of pathogenicity","1, 1",83.77,H,-0.2811,0.0471,-22.0493,loss_of_function,-3.6335882100662,0.5247388132438339,0.9249442510784271,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23F,NP_000240:p.Glu23Phe,,,,,saturation,,-0.62552,0.19456,-0.1070882541913204,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3623,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9829156718965264,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23G,NP_000240:p.Glu23Gly,"hg38,3:g.36993615A>G",,2.39383348494e-05,0.916,"COSMIC,saturation,clinvar",,0.80749,1.15136,1.2194242366022463,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,826691,Uncertain significance,2,83.77,H,-0.2733,0.0471,-8.7614,loss_of_function,-6.95933512940042,0.11417213035323068,0.9604544465131424,Pathogenic,0.9924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23H,NP_000240:p.Glu23His,,,,,saturation,,-0.20168,0.00986,-0.0416815291322375,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3536,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9861640382386248,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23I,NP_000240:p.Glu23Ile,,,,,saturation,,-0.7142,-0.47551,-0.066426030751559,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3677,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9847076522631818,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23K,NP_000240:p.Glu23Lys,,,,,"saturation,clinvar",,-0.66057,-0.16054,0.0837961070032983,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90330,Uncertain significance,2,83.77,H,-0.3374,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.98670891540697,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23L,NP_000240:p.Glu23Leu,,,,,saturation,,-0.59054,-0.49762,-0.2834321743823081,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3698,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.986983194712726,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23M,NP_000240:p.Glu23Met,,,,,saturation,,-1.16012,-0.01701,0.0156760604936928,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3186,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9889667635660612,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23N,NP_000240:p.Glu23Asn,,,,,saturation,,-0.04816,0.10442,0.4073933161036991,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.77,H,-0.3416,0.0471,-22.0493,loss_of_function,-4.19778698738183,0.45508792695817973,0.9830994607895136,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23P,NP_000240:p.Glu23Pro,,,,,saturation,,0.59906,5.82075,5.343334894202032,Uncertain,Uncertain,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.77,H,-0.4723,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9839792945097648,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23Q,NP_000240:p.Glu23Gln,,,,,saturation,,-0.5686,-0.2068,0.3324625069927495,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.2879,0.0471,-22.0493,loss_of_function,-3.37887791732047,0.5561830459311617,0.8647957817088701,Pathogenic,0.9896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23R,NP_000240:p.Glu23Arg,,,,,saturation,,-1.08071,-0.05374,-0.0715339678561249,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3978,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9827724994990844,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23S,NP_000240:p.Glu23Ser,,,,,saturation,,-0.10447,0.44592,0.6514956922720538,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.77,H,-0.3288,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.983976062349647,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23T,NP_000240:p.Glu23Thr,,,,,saturation,,-0.21429,0.02109,0.5125783640550896,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.77,H,-0.3447,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9857895478772488,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23V,NP_000240:p.Glu23Val,,,,,saturation,,-0.144,-0.25714,0.116193776617301,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.77,H,-0.2608,0.0471,-8.7614,loss_of_function,-6.95933512940042,0.11417213035323068,0.9782635487394769,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23W,NP_000240:p.Glu23Trp,,,,,saturation,,-0.29577,-0.47245,-0.6040412846348775,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3724,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.9860555875294288,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E23Y,NP_000240:p.Glu23Tyr,,,,,saturation,,-0.51102,-0.28707,-0.0101506718787314,Neutral,Neutral,False,0.044,,,,,,,Uncertain,Uncertain,Uncertain,65.6,,False,65.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.77,H,-0.3632,0.0471,-22.0493,loss_of_function,-6.95933512940042,0.11417213035323068,0.984532232264988,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24A,NP_000240:p.Val24Ala,,,,,"saturation,clinvar",,0.49076,1.27313,1.0197137771267155,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1350120,Uncertain significance,1,84.56,H,-0.1799,1.0567,-7.7615,loss_of_function,-4.85582131173688,0.373852951377808,0.8510182419578125,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24C,NP_000240:p.Val24Cys,,,,,saturation,,0.90706,1.69898,1.6122510455940235,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.2807,1.0567,-22.0493,loss_of_function,-4.85582131173688,0.373852951377808,0.8898722857771668,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24D,NP_000240:p.Val24Asp,,,,,saturation,,3.26319,3.77143,1.7951490275385555,Destabilizing,Uncertain,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.4194,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9622510879329,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24E,NP_000240:p.Val24Glu,,,,,saturation,,2.32733,3.60748,1.3008268304134414,Uncertain,Uncertain,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.56,H,-0.3767,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9729947012406688,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24F,NP_000240:p.Val24Phe,,,,,"saturation,clinvar",,-1.12145,0.36973,-0.3000058632649527,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1470656,Uncertain significance,1,84.56,H,-0.3299,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.959818159590666,Pathogenic,0.9865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24G,NP_000240:p.Val24Gly,,,,,"saturation,clinvar",,1.53041,3.02143,2.131563283974552,Uncertain,Uncertain,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1329377,Uncertain significance,1,84.56,H,-0.3108,1.0567,-8.7614,loss_of_function,-2.43221167714454,0.6730499114686507,0.9187141565733464,Pathogenic,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24H,NP_000240:p.Val24His,,,,,saturation,,-0.69194,0.86327,0.6114109545164242,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.4224,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9661982937582634,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24I,NP_000240:p.Val24Ile,,,,,"saturation,clinvar",,-0.81274,0.06429,-0.0768801385472744,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,997649,Uncertain significance,2,84.56,H,-0.0814,1.0567,-1.0962,loss_of_function,-0.446638503889522,0.9181708455483485,0.0039611965206694,Benign,0.1181,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24K,NP_000240:p.Val24Lys,,,,,saturation,,-0.54216,3.23299,0.967562890108837,Uncertain,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.4156,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9635928519350948,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24L,NP_000240:p.Val24Leu,,,,,saturation,,-0.79119,0.59966,-0.3226423029420788,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.2534,1.0567,-22.0493,loss_of_function,-3.03514580166273,0.598617109000765,0.9658451755577908,Pathogenic,0.9818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24M,NP_000240:p.Val24Met,,,,,saturation,,-0.51996,1.67789,0.4055240056928821,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.2625,1.0567,-22.0493,loss_of_function,-2.49282527434798,0.6655671041037218,0.9286102127669892,Pathogenic,0.9733,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24N,NP_000240:p.Val24Asn,,,,,saturation,,0.43106,2.68367,1.210382596502979,Uncertain,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.4072,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9559728352406006,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24P,NP_000240:p.Val24Pro,,,,,saturation,,1.96307,8.93401,5.928141315432057,Uncertain,Uncertain,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.4571,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9680752010053016,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24Q,NP_000240:p.Val24Gln,,,,,saturation,,0.80681,1.93061,1.0234281542905037,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.56,H,-0.3873,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.92025199521053,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24R,NP_000240:p.Val24Arg,,,,,saturation,,-0.87128,3.11769,0.5217437584737047,Uncertain,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.4366,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9589677550581032,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24S,NP_000240:p.Val24Ser,,,,,saturation,,1.17177,2.37721,1.5677699567148864,Uncertain,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.3564,1.0567,-22.0493,loss_of_function,-4.85582131173688,0.373852951377808,0.9625539958272616,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24T,NP_000240:p.Val24Thr,,,,,saturation,,0.43351,1.20374,1.0705149326532717,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.56,H,-0.2718,1.0567,-22.0493,loss_of_function,-4.85582131173688,0.373852951377808,0.9281891866360288,Pathogenic,0.9907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24W,NP_000240:p.Val24Trp,,,,,saturation,,-0.78447,0.75136,-0.5309050403291965,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.3705,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.965867536166358,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V24Y,NP_000240:p.Val24Tyr,,,,,saturation,,-0.91296,0.47449,-0.0417119570171647,Neutral,Neutral,False,0.083,,,,,,,,,,15.6,,False,15.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.56,H,-0.3734,1.0567,-22.0493,loss_of_function,-5.03127072608021,0.3521935510057374,0.9657165945190272,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25A,NP_000240:p.Ile25Ala,,,,,saturation,,3.45311,3.81803,3.8007220536429065,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.3831,0.4586,-22.0459,loss_of_function,-6.16872247322764,0.21177402958649186,0.8895047511620651,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25C,NP_000240:p.Ile25Cys,,,,,saturation,,2.96224,3.33707,3.4700626283713825,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.3631,0.4586,-22.0459,loss_of_function,-6.16872247322764,0.21177402958649186,0.9233726613422673,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25D,NP_000240:p.Ile25Asp,,,,,saturation,,5.39432,4.60442,4.901758786642573,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.5072,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.962836294581967,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25E,NP_000240:p.Ile25Glu,,,,,saturation,,7.53858,4.73027,4.6890654432764665,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.4881,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.963580066956046,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25F,NP_000240:p.Ile25Phe,,,,,"saturation,clinvar",,6.7359,1.5517,2.054812798061856,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90343,Likely pathogenic,3,89.33,-,-0.3441,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9577562944095532,Pathogenic,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25G,NP_000240:p.Ile25Gly,,,,,saturation,,4.08142,5.99252,5.892939126328859,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.406,0.4586,-8.7581,loss_of_function,-5.43007730906718,0.3029604915266732,0.7321019265867122,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25H,NP_000240:p.Ile25His,,,,,saturation,,4.9258,2.69864,3.18985867671152,Uncertain,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.4737,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9621645620930832,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25K,NP_000240:p.Ile25Lys,,,,,saturation,,2.89384,5.25136,6.130337932099452,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.33,-,-0.4806,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9668653128386002,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25L,NP_000240:p.Ile25Leu,,,,,saturation,,0.45892,0.12789,1.7398081523668292,Neutral,Neutral,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.33,-,-0.2005,0.4586,-8.7581,loss_of_function,-2.84349523517573,0.6222765573187461,0.6840551647441215,Pathogenic,0.8169,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25M,NP_000240:p.Ile25Met,,,,,saturation,,1.0409,1.46837,2.288980143382143,Neutral,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.33,-,-0.274,0.4586,-22.0459,loss_of_function,-3.85532584604378,0.4973650870152777,0.9222838287969388,Pathogenic,0.9077,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25N,NP_000240:p.Ile25Asn,,,,,saturation,,2.78088,3.25102,3.3457329752055647,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.4202,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.959091177111472,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25P,NP_000240:p.Ile25Pro,,,,,saturation,,5.70215,11.6534,7.259280924016142,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.5272,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9595881107707,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25Q,NP_000240:p.Ile25Gln,,,,,saturation,,3.91244,3.22007,3.663941039469219,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.33,-,-0.4478,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9575777154361342,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25R,NP_000240:p.Ile25Arg,,,,,saturation,,5.54757,5.54558,5.344058514902501,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.33,-,-0.5074,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9399876984758304,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25S,NP_000240:p.Ile25Ser,,,,,"saturation,clinvar",,4.44391,5.02279,4.755861226110252,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2838429,Uncertain significance,1,89.33,-,-0.3559,0.4586,-8.7581,loss_of_function,-3.2205518621233,0.5757285510084,0.9531057269664016,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25T,NP_000240:p.Ile25Thr,,,,,"saturation,clinvar",,2.97481,3.22789,3.314576784914638,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1365650,Uncertain significance,2,89.33,-,-0.3405,0.4586,-22.0459,loss_of_function,-6.16872247322764,0.21177402958649186,0.9524743780818662,Pathogenic,0.9907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25V,NP_000240:p.Ile25Val,,,,,"saturation,clinvar",,0.88029,1.04184,1.455860230701208,Neutral,Neutral,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,422984,Uncertain significance,2,89.33,-,-0.1349,0.4586,-3.7138,loss_of_function,-1.85457154729329,0.7443601457618247,0.0116837908036164,Benign,0.2451,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25W,NP_000240:p.Ile25Trp,,,,,saturation,,14.30068,7.40306,3.772930823144724,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.33,-,-0.433,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9690675766162578,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I25Y,NP_000240:p.Ile25Tyr,,,,,saturation,,11.65754,2.09184,3.295265933087032,Uncertain,Destabilizing,False,0.124,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.33,-,-0.4418,0.4586,-22.0459,loss_of_function,-6.39158315472127,0.18426166229971824,0.9426116457401044,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26A,NP_000240:p.Gln26Ala,,,,,saturation,,0.00711,1.0415,0.616061930519084,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.0805,1.6368,-8.7614,loss_of_function,-2.73491125371886,0.6356813551470567,0.9019096287554068,Pathogenic,0.5659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26C,NP_000240:p.Gln26Cys,,,,,saturation,,0.7101,1.39354,1.2135051164072008,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.1945,1.6368,-22.0493,loss_of_function,-3.45591183694568,0.546673133836914,0.9579266044094186,Pathogenic,0.9519,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26D,NP_000240:p.Gln26Asp,,,,,saturation,,0.72337,1.37041,0.9670049041941198,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.2349,1.6368,-22.0493,loss_of_function,-2.59292007013096,0.6532103044806593,0.8211261455026213,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26E,NP_000240:p.Gln26Glu,,,,,saturation,,-0.30202,0.77755,0.4992308179559979,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.0856,1.6368,-8.7614,loss_of_function,-2.00059371284358,0.7263335677952467,0.8280929078327459,Pathogenic,0.6146,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26F,NP_000240:p.Gln26Phe,,,,,saturation,,0.33701,0.49728,-0.0639285559035079,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.2025,1.6368,-22.0493,loss_of_function,-3.00073207674723,0.6028655167200436,0.971014224101954,Pathogenic,0.9613,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26G,NP_000240:p.Gln26Gly,,,,,saturation,,0.43416,2.25306,1.774442116646684,Uncertain,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.1512,1.6368,-8.7614,loss_of_function,-3.68272783023789,0.5186724794722811,0.8281387848147472,Pathogenic,0.8169,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26H,NP_000240:p.Gln26His,,,,,"saturation,clinvar",,1.08573,0.81463,0.3001100807998358,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,941778,Uncertain significance,2,88.02,-,-0.05,1.6368,-2.5717,loss_of_function,-1.65871505717996,0.7685388194308734,0.0575011351863453,Benign,0.7947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26I,NP_000240:p.Gln26Ile,,,,,saturation,,-0.29426,0.09762,-0.1826193159881112,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.094,1.6368,-4.4396,loss_of_function,-1.70638289740264,0.7626541783215305,0.2478917074288112,Benign,0.7142,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26K,NP_000240:p.Gln26Lys,,,,,"saturation,clinvar",,-0.87962,0.96361,0.5572066821107591,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2837563,Uncertain significance,1,88.02,-,-0.1815,1.6368,-22.0493,loss_of_function,-3.74599483500712,0.51086210636977,0.9318850105356836,Pathogenic,0.8776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26L,NP_000240:p.Gln26Leu,,,,,saturation,,-0.46461,-0.39082,-0.261369166197512,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.0914,1.6368,-7.1765,loss_of_function,-2.17435924765346,0.7048820439848041,0.7098064203122757,Pathogenic,0.5486,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26M,NP_000240:p.Gln26Met,,,,,saturation,,-0.29658,0.77075,0.2047790142976363,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.1382,1.6368,-22.0493,loss_of_function,-2.59596205132861,0.6528347689513398,0.9507603175015584,Pathogenic,0.6911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26N,NP_000240:p.Gln26Asn,,,,,saturation,,0.66235,1.32891,0.9151547407804784,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.0962,1.6368,-8.7614,loss_of_function,-1.74217488503401,0.7582356227331771,0.4813115586764953,Uncertain,0.8538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26P,NP_000240:p.Gln26Pro,,,,,"saturation,clinvar",,0.96599,0.64524,4.2495411564047565,Neutral,Uncertain,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,455452,Uncertain significance,2,88.02,-,-0.2541,1.6368,-8.7614,loss_of_function,-4.18405588722195,0.4567830445909457,0.9795811734285744,Pathogenic,0.7939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26R,NP_000240:p.Gln26Arg,,,,,"saturation,clinvar",,-0.562,1.2568,0.2518716185836639,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455453,Uncertain significance,1,88.02,-,-0.18,1.6368,-22.0493,loss_of_function,-3.94649196592036,0.4861105410929356,0.9727987089146276,Pathogenic,0.8374,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26S,NP_000240:p.Gln26Ser,,,,,saturation,,0.51445,0.9,1.0946518680560595,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.1667,1.6368,-22.0493,loss_of_function,-3.45591183694568,0.546673133836914,0.9193947660227348,Pathogenic,0.5976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26T,NP_000240:p.Gln26Thr,,,,,saturation,,0.41586,-0.01701,0.6549365910180912,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.02,-,-0.1766,1.6368,-22.0493,loss_of_function,-2.87333413887973,0.6185929157152243,0.8499897355591035,Pathogenic,0.6479,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26V,NP_000240:p.Gln26Val,,,,,saturation,,-0.08229,0.39524,-0.0075861647570441,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.02,-,-0.0852,1.6368,-2.6955,loss_of_function,-0.979018906872218,0.8524479684352804,0.1618523272570798,Benign,0.5269,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26W,NP_000240:p.Gln26Trp,,,,,saturation,,0.44191,0.24864,-0.5658031316308731,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.2019,1.6368,-22.0493,loss_of_function,-3.00073207674723,0.6028655167200436,0.9713145560896848,Pathogenic,0.9777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q26Y,NP_000240:p.Gln26Tyr,,,,,saturation,,0.39131,-0.13435,-0.0179954470157389,Neutral,Neutral,False,0.067,,,,,,,Uncertain,Uncertain,Uncertain,50.0,,False,50.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,-,-0.2048,1.6368,-22.0493,loss_of_function,-3.00073207674723,0.6028655167200436,0.9759274946509712,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27A,NP_000240:p.Arg27Ala,,,,,saturation,,0.17619,-0.4534,0.67985948913178,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.2273,0.8987,-2.6564,loss_of_function,-1.92995613532655,0.7350538452523181,0.0605372711423495,Benign,0.9836,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27C,NP_000240:p.Arg27Cys,,,,,saturation,,-0.05579,-0.41259,1.14821591524698,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3351,0.8987,-22.0526,loss_of_function,-3.03840625602164,0.5982146027477873,0.9393508396981144,Pathogenic,0.8259,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27D,NP_000240:p.Arg27Asp,,,,,saturation,,1.02557,2.3102,1.2987413799405814,Uncertain,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.4173,0.8987,-22.0526,loss_of_function,-3.74230729524002,0.5113173367306265,0.9536640200218118,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27E,NP_000240:p.Arg27Glu,,,,,saturation,,1.52855,0.30952,1.1396913209843051,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3625,0.8987,-22.0526,loss_of_function,-3.38388530605181,0.5555648789355259,0.947970800667692,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27F,NP_000240:p.Arg27Phe,,,,,saturation,,-0.062,-0.46156,0.3708036762545236,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.75,S,-0.3584,0.8987,-22.0526,loss_of_function,-3.93166219841245,0.4879412902754322,0.96236064946836,Pathogenic,0.991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27G,NP_000240:p.Arg27Gly,,,,,"saturation,clinvar",,0.80838,0.53878,1.680922726747043,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,489903,Uncertain significance,2,91.75,S,-0.2887,0.8987,-7.7648,loss_of_function,-3.47870600509245,0.5438591716707418,0.6640512276556318,Uncertain,0.9553,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27H,NP_000240:p.Arg27His,,,,,saturation,,0.61087,0.06667,0.5589475381642125,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.296,0.8987,-22.0526,loss_of_function,-2.98917493092734,0.6042922575809824,0.8923531679331882,Pathogenic,0.666,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27I,NP_000240:p.Arg27Ile,,,,,saturation,,0.53236,-0.8983,0.2503392533526433,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3556,0.8987,-22.0526,loss_of_function,-4.19780594293089,0.455085586877263,0.976540666965814,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27K,NP_000240:p.Arg27Lys,,,,,saturation,,0.05164,0.29422,0.8298540009815971,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.75,S,-0.1487,0.8987,-8.7647,loss_of_function,-2.02993968582646,0.7227107789673494,0.401430643770181,Uncertain,0.4935,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27L,NP_000240:p.Arg27Leu,,,,,saturation,,-0.1253,-0.58367,-0.0166146966007463,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3287,0.8987,-22.0526,loss_of_function,-3.65879872270794,0.5216265510061038,0.9806211428503742,Pathogenic,0.9598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27M,NP_000240:p.Arg27Met,,,,,saturation,,-0.40856,-0.23299,0.3501019123384052,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.2945,0.8987,-22.0526,loss_of_function,-4.19780594293089,0.455085586877263,0.9745567144360826,Pathogenic,0.9773,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27N,NP_000240:p.Arg27Asn,,,,,saturation,,-0.19549,0.77313,0.7662807184346532,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3411,0.8987,-22.0526,loss_of_function,-3.74230729524002,0.5113173367306265,0.8326247877602894,Pathogenic,0.9914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27P,NP_000240:p.Arg27Pro,,,,,"saturation,clinvar",,1.63302,4.82823,3.1213013628640445,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,36559,Uncertain significance,1,91.75,S,-0.4683,0.8987,-22.0526,loss_of_function,-4.57454316947347,0.4085770108567048,0.9793592818519083,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27Q,NP_000240:p.Arg27Gln,"hg19,3:g.37035118G>A, hg38,3:g.36993627G>A",6.37104994903e-05,1.19411539931e-05,0.879,"cBioPortal,COSMIC,saturation,clinvar",,-0.15681,0.29728,0.8333141898311721,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,216337,Conflicting classifications of pathogenicity,1,91.75,S,-0.301,0.8987,-22.0526,loss_of_function,-2.77349455252619,0.6309182094866906,0.7289571540750459,Pathogenic,0.6801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27S,NP_000240:p.Arg27Ser,,,,,saturation,,-0.25503,0.03844,1.055760581988225,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.2428,0.8987,-5.5949,loss_of_function,-2.00904206577103,0.725290610432151,0.6921398379013728,Pathogenic,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27T,NP_000240:p.Arg27Thr,,,,,saturation,,1.80723,-0.74388,0.7867893554300076,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.2582,0.8987,-7.7648,loss_of_function,-2.44800565699199,0.671100129337632,0.8384111467861084,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27V,NP_000240:p.Arg27Val,,,,,saturation,,1.01762,-1.1568,0.2199797903419514,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,91.75,S,-0.3427,0.8987,-22.0526,loss_of_function,-4.19780594293089,0.455085586877263,0.9746183036372648,Pathogenic,0.9861,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27W,NP_000240:p.Arg27Trp,,,,,"saturation,clinvar",,-0.19043,3.49728,0.1100868525558124,Uncertain,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,479677,Uncertain significance,2,91.75,S,-0.2761,0.8987,-8.7647,loss_of_function,-3.94064277839946,0.48683262896561774,0.9750660231746028,Pathogenic,0.9074,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R27Y,NP_000240:p.Arg27Tyr,,,,,saturation,,1.46077,-0.5568,0.5184564479905801,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.75,S,-0.3477,0.8987,-22.0526,loss_of_function,-3.6725279357533,0.5199316663394558,0.9358877168008352,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28A,NP_000240:p.Pro28Ala,,,,,saturation,,3.40598,0.58027,0.6012522266370829,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,H,-0.3246,0.0235,-22.0559,loss_of_function,-5.22546106386728,0.3282205654573952,0.4940328752678641,Uncertain,0.846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28C,NP_000240:p.Pro28Cys,,,,,saturation,,3.29102,1.90442,0.9963518205255452,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.0,H,-0.3573,0.0235,-22.0559,loss_of_function,-5.88525793944988,0.24676800121845374,0.9890766595568894,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28D,NP_000240:p.Pro28Asp,,,,,saturation,,8.63852,4.8602,2.402644537414876,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.0,H,-0.3832,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9897628771437365,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28E,NP_000240:p.Pro28Glu,,,,,saturation,,7.45833,4.93095,2.7146603377265475,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.367,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.984687381146108,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28F,NP_000240:p.Pro28Phe,,,,,saturation,,7.1219,14.31259,1.8536653554906903,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3857,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9841930394176291,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28G,NP_000240:p.Pro28Gly,,,,,saturation,,4.56769,3.08605,2.61025408452349,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,H,-0.3389,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9890464656860865,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28H,NP_000240:p.Pro28His,,,,,saturation,,16.41184,10.01054,2.2531396543029736,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3633,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9888036219446104,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28I,NP_000240:p.Pro28Ile,,,,,saturation,,3.19585,3.98776,0.5326904395887746,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3687,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9872914487036252,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28K,NP_000240:p.Pro28Lys,,,,,saturation,,8.16343,7.75578,4.081881017848682,Destabilizing,Destabilizing,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3587,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9411820724740732,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28L,NP_000240:p.Pro28Leu,,,,,"saturation,clinvar",,4.95451,7.35782,0.8834206512784354,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90388,Pathogenic,3,94.0,H,-0.3733,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.963041628510551,Pathogenic,0.9825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28M,NP_000240:p.Pro28Met,,,,,saturation,,4.37375,2.33741,1.1746162047237252,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3243,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.986262291891476,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28N,NP_000240:p.Pro28Asn,,,,,saturation,,6.50723,3.15986,1.3228897394294632,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.0,H,-0.3513,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9850583826776824,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28Q,NP_000240:p.Pro28Gln,,,,,"saturation,clinvar",,7.01284,3.80204,1.7672658677699065,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1723756,Conflicting classifications of pathogenicity,1,94.0,H,-0.353,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9872385697374584,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28R,NP_000240:p.Pro28Arg,,,,,saturation,,14.35518,9.77857,3.1387045834538254,Destabilizing,Destabilizing,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3944,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9843608386227324,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28S,NP_000240:p.Pro28Ser,,,,,"saturation,clinvar",,3.85942,1.83401,1.5596076020325658,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,627728,Uncertain significance,2,94.0,H,-0.2565,0.0235,-8.768,loss_of_function,-4.63118189702441,0.4015849050056711,0.9725999833179534,Pathogenic,0.971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28T,NP_000240:p.Pro28Thr,,,,,saturation,,2.75717,1.08265,0.7653022391868258,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.0,H,-0.3364,0.0235,-22.0559,loss_of_function,-5.1299686209883,0.34000920015055813,0.9650382387114554,Pathogenic,0.9653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28V,NP_000240:p.Pro28Val,,,,,saturation,,3.87788,1.52653,0.3212828375444293,Uncertain,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3241,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9883628741494436,Pathogenic,0.9801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28W,NP_000240:p.Pro28Trp,,,,,saturation,,19.50382,22.53469,3.0227643632202907,Destabilizing,Destabilizing,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3982,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9879753298518166,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P28Y,NP_000240:p.Pro28Tyr,,,,,saturation,,9.53454,15.80238,2.730506647168636,Destabilizing,Uncertain,False,0.035,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,H,-0.3867,0.0235,-22.0559,loss_of_function,-7.00558547572414,0.1084624802405659,0.9860848600603636,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29C,NP_000240:p.Ala29Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.72318,1.29524,0.9684753771740242,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1261,1.5291,-7.7681,loss_of_function,-1.38932982453389,0.8017946876823733,0.1142056124689317,Benign,0.3855,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29D,NP_000240:p.Ala29Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.10306,1.57993,1.1453641653649294,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,629311,Uncertain significance,2,93.28,H,-0.2807,1.5291,-22.0559,loss_of_function,-3.07467191786826,0.5937375716181366,0.8828941559701733,Pathogenic,0.9536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29E,NP_000240:p.Ala29Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.13732,1.79558,0.7612868394892758,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1904,1.5291,-7.1832,loss_of_function,-2.24987373562791,0.6955597072015655,0.5410414170121848,Uncertain,0.8449,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29F,NP_000240:p.Ala29Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.42237,1.11224,0.4952881342677911,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1732,1.5291,-7.1832,loss_of_function,-1.73113052463469,0.7595990597365871,0.4498380196363906,Uncertain,0.6227,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29G,NP_000240:p.Ala29Gly,"hg19,3:g.37035124C>G",,,0.885,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.45416,1.92211,1.6134137938191455,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90403,Pathogenic,3,93.28,H,-0.1196,1.5291,-7.7681,loss_of_function,-1.4390166260198,0.7956608038468594,0.5429732669211815,Uncertain,0.2638,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29H,NP_000240:p.Ala29His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.83001,1.94048,0.6558950582328454,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1854,1.5291,-8.768,loss_of_function,-2.87233681199715,0.6187160366862033,0.8045503477583704,Pathogenic,0.8572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29I,NP_000240:p.Ala29Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.68395,1.37585,0.055935743679113,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.2386,1.5291,-22.0559,loss_of_function,-2.07916581826845,0.7166337651721182,0.8591227009052893,Pathogenic,0.4883,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29K,NP_000240:p.Ala29Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54429,1.93197,0.7173779174121303,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.271,1.5291,-22.0559,loss_of_function,-3.66803284329069,0.520486589863832,0.7732108698760292,Pathogenic,0.9679,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29L,NP_000240:p.Ala29Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00146,1.26463,0.0229036533493626,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.2433,1.5291,-22.0559,loss_of_function,-1.88778465299908,0.7402599556484859,0.4659792791007617,Uncertain,0.5683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29M,NP_000240:p.Ala29Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.32171,1.21429,0.2425725987302007,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1144,1.5291,-4.8613,loss_of_function,-1.53674825961735,0.7835957388876597,0.1608584327437518,Benign,0.3941,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29N,NP_000240:p.Ala29Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.53613,2.36088,0.8321612492664051,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1833,1.5291,-8.768,loss_of_function,-2.59647001727623,0.6527720600624213,0.9097943623444704,Pathogenic,0.732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29P,NP_000240:p.Ala29Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61293,3.96156,3.0791943726452846,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.2526,1.5291,-8.768,loss_of_function,-3.66803284329069,0.520486589863832,0.9460091009564916,Pathogenic,0.8241,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29Q,NP_000240:p.Ala29Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.85824,2.13435,0.7661773095170523,Uncertain,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1807,1.5291,-8.768,loss_of_function,-2.81694558217334,0.6255541377328535,0.8424993389890532,Pathogenic,0.6676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29R,NP_000240:p.Ala29Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.81751,2.26701,0.3926822903767024,Uncertain,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.2817,1.5291,-22.0559,loss_of_function,-3.66803284329069,0.520486589863832,0.8772323748191078,Pathogenic,0.9356,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29S,NP_000240:p.Ala29Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35084,1.1,0.6579503752840482,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,90397,Conflicting classifications of pathogenicity,1,93.28,H,-0.0691,1.5291,-3.5203,loss_of_function,-1.08862262012344,0.8389172837279018,0.0086118239606054,Benign,0.098,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29T,NP_000240:p.Ala29Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.30618,1.50544,0.4388481180252912,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.1696,1.5291,-22.0559,loss_of_function,-1.79007711279887,0.7523220462544155,0.68179627812278,Pathogenic,0.2257,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29V,NP_000240:p.Ala29Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.26221,1.33912,0.033581866121452,Neutral,Neutral,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.0679,1.5291,-2.7021,loss_of_function,-1.36465910662472,0.8048403117368114,0.0280749814425218,Benign,0.1925,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29W,NP_000240:p.Ala29Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.4368,0.88095,-0.0415600309017444,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.26,1.5291,-22.0559,loss_of_function,-2.35129904806199,0.6830386540074337,0.6031340373359969,Uncertain,0.9505,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A29Y,NP_000240:p.Ala29Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.22998,1.69354,0.4657230841283366,Uncertain,Uncertain,False,0.02,,,,,,,,,,7.7,,False,7.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,H,-0.2004,1.5291,-8.768,loss_of_function,-2.27679431137302,0.6922363360151048,0.5311269146223516,Uncertain,0.8308,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30A,NP_000240:p.Asn30Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.36784,-0.02721,0.7057686159065191,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.23,H,-0.2297,1.0684,-22.0559,loss_of_function,-2.09488447592459,0.7146932816386729,0.8232881455953546,Pathogenic,0.6149,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30C,NP_000240:p.Asn30Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06149,0.12143,1.306611835506945,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.23,H,-0.2795,1.0684,-22.0559,loss_of_function,-2.9009429431832,0.6151845820457098,0.983697808054728,Pathogenic,0.5063,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30D,NP_000240:p.Asn30Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.47703,-0.80408,1.6193423097165385,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1765033,Uncertain significance,1,91.23,H,-0.2329,1.0684,-22.0559,loss_of_function,-2.69364393523039,0.640775845640336,0.9755910386066968,Pathogenic,0.8949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30E,NP_000240:p.Asn30Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6884,0.41837,1.125586214242171,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.26,1.0684,-22.0559,loss_of_function,-2.69364393523039,0.640775845640336,0.9860079424222574,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30F,NP_000240:p.Asn30Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.94555,-1.3398,-1.0490966013676588,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2868,1.0684,-22.0559,loss_of_function,-2.93710599374729,0.610720218378412,0.9887937173914824,Pathogenic,0.9243,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30G,NP_000240:p.Asn30Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.91413,1.80816,2.0540540534865417,Neutral,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.23,H,-0.1926,1.0684,-8.768,loss_of_function,-4.34239768312677,0.4372355963080808,0.8983899214594615,Pathogenic,0.7417,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30H,NP_000240:p.Asn30His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.64737,-0.92313,0.0394797341074687,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.1366,1.0684,-2.8375,loss_of_function,-2.19251412339858,0.7026408069653447,0.1601538173782789,Benign,0.4384,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30I,NP_000240:p.Asn30Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.9975,-1.39898,-0.2191133721042037,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,961008,Uncertain significance,1,91.23,H,-0.2799,1.0684,-22.0559,loss_of_function,-3.93989683595938,0.48692471628334794,0.9825413200723888,Pathogenic,0.9165,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30K,NP_000240:p.Asn30Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.83304,1.37143,0.8039397046137425,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,"1062615, 216338","Uncertain significance, Uncertain significance","1, 2",91.23,H,-0.2329,1.0684,-22.0559,loss_of_function,-4.34239768312677,0.4372355963080808,0.9877562746511152,Pathogenic,0.9914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30L,NP_000240:p.Asn30Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.27787,-1.49762,-0.682209407718749,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2863,1.0684,-22.0559,loss_of_function,-3.36657452317487,0.5577019118717083,0.9766728317632852,Pathogenic,0.8057,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30M,NP_000240:p.Asn30Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.45813,-1.08707,-0.0921811848080644,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2405,1.0684,-22.0559,loss_of_function,-3.93989683595938,0.48692471628334794,0.9604998577256804,Pathogenic,0.8726,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30P,NP_000240:p.Asn30Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69393,3.76361,4.865545935220358,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,91.23,H,-0.3953,1.0684,-22.0559,loss_of_function,-4.34239768312677,0.4372355963080808,0.988732309393161,Pathogenic,0.9776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30Q,NP_000240:p.Asn30Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02355,0.46497,0.7385188853906945,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2236,1.0684,-22.0559,loss_of_function,-2.69364393523039,0.640775845640336,0.9570198749108196,Pathogenic,0.953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30R,NP_000240:p.Asn30Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.66748,1.88095,0.3621729112760824,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.265,1.0684,-22.0559,loss_of_function,-4.34239768312677,0.4372355963080808,0.9857765466087648,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30S,NP_000240:p.Asn30Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.57531,0.99558,1.495258915224809,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,925482,Uncertain significance,2,91.23,H,-0.1036,1.0684,-3.2446,loss_of_function,-1.79512276267398,0.751699155883471,0.3947236641250904,Uncertain,0.1266,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30T,NP_000240:p.Asn30Thr,"hg19,3:g.37035127A>C",,,0.813,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.17154,0.24048,0.94863381828003,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,91.23,H,-0.2491,1.0684,-22.0559,loss_of_function,-2.9009429431832,0.6151845820457098,0.9887837957348662,Pathogenic,0.7001,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30V,NP_000240:p.Asn30Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.35281,-1.09592,0.1392495082191863,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2733,1.0684,-22.0559,loss_of_function,-3.93989683595938,0.48692471628334794,0.9863904562707108,Pathogenic,0.8037,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30W,NP_000240:p.Asn30Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.76555,0.5034,-1.187676993505662,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2919,1.0684,-22.0559,loss_of_function,-2.93710599374729,0.610720218378412,0.98892516882311,Pathogenic,0.9856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N30Y,NP_000240:p.Asn30Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.2781,-1.00408,-0.819400023580083,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,25.1,,False,25.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.23,H,-0.2704,1.0684,-22.0559,loss_of_function,-2.93710599374729,0.610720218378412,0.9854372757368002,Pathogenic,0.7114,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31C,NP_000240:p.Ala31Cys,"hg19,3:g.37035129_37035130delinsTG",,,,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.12523,0.53503,1.5349411707065164,Neutral,Neutral,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90442,Conflicting classifications of pathogenicity,1,93.07,H,-0.2632,0.0937,-8.768,loss_of_function,-3.01191079498477,0.6014854931111895,0.9187698289406024,Pathogenic,0.7997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31D,NP_000240:p.Ala31Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.99851,3.63197,3.471074084719173,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1703518,Uncertain significance,1,93.07,H,-0.4128,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9916253123169818,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31E,NP_000240:p.Ala31Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.48886,4.3966,3.8171595015719153,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3984,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9904266275629072,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31F,NP_000240:p.Ala31Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.94202,4.64218,2.954350812515389,Destabilizing,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3811,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9907018123322492,Pathogenic,0.9887,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31G,NP_000240:p.Ala31Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.17795,2.93707,2.9444223403552603,Uncertain,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,183068,Uncertain significance,2,93.07,H,-0.2567,0.0937,-8.768,loss_of_function,-2.48726796484622,0.6662531593518436,0.9325758032604266,Pathogenic,0.5197,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31H,NP_000240:p.Ala31His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.42996,6.88503,3.578686532192795,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3853,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9916936802466088,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31I,NP_000240:p.Ala31Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.19326,2.98571,1.754541966254423,Uncertain,Neutral,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3707,0.0937,-22.0559,loss_of_function,-4.70809271880853,0.39209018945930063,0.8645322791965018,Pathogenic,0.9497,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31K,NP_000240:p.Ala31Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.15136,7.91531,6.169783906338366,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.4031,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9889777684175568,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31L,NP_000240:p.Ala31Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.4588,1.38197,1.580109790114313,Neutral,Neutral,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3754,0.0937,-22.0559,loss_of_function,-4.93636937306351,0.3639092150820938,0.9725341723733084,Pathogenic,0.8956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31M,NP_000240:p.Ala31Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.7908,2.8415,2.2032259803659584,Uncertain,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3342,0.0937,-22.0559,loss_of_function,-4.93636937306351,0.3639092150820938,0.9281728269369856,Pathogenic,0.945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31N,NP_000240:p.Ala31Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.83866,2.76633,2.4287805616379234,Uncertain,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3831,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9919348435710796,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31P,NP_000240:p.Ala31Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22607,7.32993,8.539297183318823,Uncertain,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.4525,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9746689529075306,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31Q,NP_000240:p.Ala31Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.80543,4.26259,2.839485004271456,Destabilizing,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3806,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9884037504077844,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31R,NP_000240:p.Ala31Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.7108,7.07925,5.182549235462271,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.4138,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.989816728541635,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31S,NP_000240:p.Ala31Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49139,1.83776,2.062761441103212,Neutral,Uncertain,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,902649,Conflicting classifications of pathogenicity,1,93.07,H,-0.2279,0.0937,-8.768,loss_of_function,-3.06670365657046,0.5947212612039028,0.9796353806140484,Pathogenic,0.4731,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31T,NP_000240:p.Ala31Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39965,1.31837,1.3537880805531168,Neutral,Neutral,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,420921,Uncertain significance,2,93.07,H,-0.3017,0.0937,-22.0559,loss_of_function,-3.88746155538502,0.49339790252812776,0.992925788141394,Pathogenic,0.7792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31V,NP_000240:p.Ala31Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.71974,0.45714,0.8216291797945691,Neutral,Neutral,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,439183,Uncertain significance,2,93.07,H,-0.2309,0.0937,-8.768,loss_of_function,-3.70520780518515,0.5158973047613298,0.8884456772439764,Pathogenic,0.7591,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31W,NP_000240:p.Ala31Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.07001,5.12211,5.2980741255296175,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.3921,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9887647865220432,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A31Y,NP_000240:p.Ala31Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.36516,5.30918,4.11943263428151,Destabilizing,Destabilizing,False,0.032,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.07,H,-0.4003,0.0937,-22.0559,loss_of_function,-6.43259144462345,0.17919914913665275,0.9888461684129338,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32A,NP_000240:p.Ile32Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.16284,3.23912,3.449454476910096,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.2989,1.3747,-22.0559,loss_of_function,-3.0439521874932,0.5975299521285293,0.105405608685981,Benign,0.7478,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32C,NP_000240:p.Ile32Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.92419,2.60374,3.0631437489204627,Uncertain,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.2789,1.3747,-22.0559,loss_of_function,-3.88275220943328,0.49397927585354523,0.6738158561466734,Uncertain,0.8745,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32D,NP_000240:p.Ile32Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.19702,4.77075,4.79496636163477,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.4229,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7996938007079598,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32E,NP_000240:p.Ile32Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.86384,5.68299,4.593230782616611,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.4038,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.4738653773970379,Uncertain,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32F,NP_000240:p.Ile32Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.05352,4.08571,2.1223336956324013,Destabilizing,Uncertain,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,584530,Uncertain significance,1,94.59,H,-0.2598,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7647702910502445,Pathogenic,0.7489,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32G,NP_000240:p.Ile32Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.33885,5.72347,6.031844421517135,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.3895,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7966939294088999,Pathogenic,0.9742,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32H,NP_000240:p.Ile32His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.29641,4.15306,3.377743831615143,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.3895,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.70231827845164,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32K,NP_000240:p.Ile32Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.98948,7.37721,7.38387743553279,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.59,H,-0.3963,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7388716390706839,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32L,NP_000240:p.Ile32Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.44697,3.42721,0.6823801440979327,Uncertain,Neutral,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.59,H,-0.0756,1.3747,-0.8024,loss_of_function,-0.853771823461964,0.8679098423615637,3.0147071422143955e-06,Benign,0.1347,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32M,NP_000240:p.Ile32Met,"hg19,3:g.37035134C>G, hg38,3:g.36993643C>G",,,0.727,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.25539,2.93197,1.8470996631998944,Uncertain,Uncertain,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,455465,Uncertain significance,2,94.59,H,-0.1897,1.3747,-22.0559,loss_of_function,-2.64855801466207,0.6463417462641002,0.3465399192035211,Uncertain,0.215,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32N,NP_000240:p.Ile32Asn,,,,,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.07417,3.5983,3.152513579892192,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,823364,Likely pathogenic,1,94.59,H,-0.336,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7742618887063432,Pathogenic,0.9782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32P,NP_000240:p.Ile32Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.48876,9.76837,7.901640735968154,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.4429,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7133511994167021,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32Q,NP_000240:p.Ile32Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.68862,3.87789,3.445904127752588,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.3636,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7259754166424134,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32R,NP_000240:p.Ile32Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.57072,6.94354,6.117961711627046,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.59,H,-0.3553,1.3747,-8.768,loss_of_function,-4.3913472047738,0.4311927303837771,0.7403239731723297,Pathogenic,0.9928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32S,NP_000240:p.Ile32Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.80502,4.43741,4.5011501043557445,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.59,H,-0.3394,1.3747,-22.0559,loss_of_function,-3.88275220943328,0.49397927585354523,0.7132127841945551,Pathogenic,0.9212,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32T,NP_000240:p.Ile32Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.42276,2.6432,2.6930222884605937,Uncertain,Uncertain,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1767535,Uncertain significance,2,94.59,H,-0.2562,1.3747,-22.0559,loss_of_function,-3.88275220943328,0.49397927585354523,0.6088478931851541,Uncertain,0.7597,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32V,NP_000240:p.Ile32Val,"hg19,3:g.37035132A>G",3.1849162367e-05,7.9650810845e-06,0.415,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.56095,0.35204,0.6147263142731981,Neutral,Neutral,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,36560,Conflicting classifications of pathogenicity,1,94.59,H,-0.047,1.3747,-3.0133,loss_of_function,-0.288175560279096,0.9377332496329738,0.0008114999468884,Benign,0.0635,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32W,NP_000240:p.Ile32Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.90674,5.54864,4.800341595118012,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.59,H,-0.3487,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7785117038612313,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I32Y,NP_000240:p.Ile32Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.55663,5.22891,3.6814817125363417,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.59,H,-0.3576,1.3747,-22.0559,loss_of_function,-4.3913472047738,0.4311927303837771,0.7735776651923579,Pathogenic,0.9861,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33A,NP_000240:p.Lys33Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.96371,0.48605,0.9609809180314,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3172,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.992565904741557,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33C,NP_000240:p.Lys33Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.24265,1.44184,1.4573561425092647,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3874,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9910797416393368,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33D,NP_000240:p.Lys33Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.05025,3.71156,1.9316208733991624,Destabilizing,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.4262,0.0469,-22.0559,loss_of_function,-6.76520709340682,0.13813742468474152,0.989906265554086,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33E,NP_000240:p.Lys33Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.63449,1.88367,1.36371396917114,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,237353,Uncertain significance,2,92.65,H,-0.3421,0.0469,-22.0559,loss_of_function,-6.76520709340682,0.13813742468474152,0.9911909663678844,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33F,NP_000240:p.Lys33Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.74086,-0.00714,-0.3271547931924401,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.65,H,-0.3884,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9914818845746411,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33G,NP_000240:p.Lys33Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.25594,2.11156,2.177492184791604,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3764,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9908335751823036,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33H,NP_000240:p.Lys33His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.75244,1.53469,0.5443501519928453,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3273,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9922452202105956,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33I,NP_000240:p.Lys33Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.13173,0.80068,-0.1918084917910684,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.65,H,-0.3556,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9921419053444114,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33L,NP_000240:p.Lys33Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56979,-0.3517,-0.2541006664361256,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.65,H,-0.3543,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9548301084321236,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33M,NP_000240:p.Lys33Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48647,-0.21939,0.4030690172985446,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3273,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9923238902696075,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33N,NP_000240:p.Lys33Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.47807,1.9085,1.2860812236899102,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,823596,Uncertain significance,2,92.65,H,-0.3355,0.0469,-22.0559,loss_of_function,-6.76520709340682,0.13813742468474152,0.991211521270511,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33P,NP_000240:p.Lys33Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.55302,12.54116,4.569895599784751,Destabilizing,Destabilizing,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.4915,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9908222790899772,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33Q,NP_000240:p.Lys33Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.63298,0.46939,0.9476458418508408,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3165,0.0469,-22.0559,loss_of_function,-6.00991777494524,0.2313786236168459,0.990597149572094,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33R,NP_000240:p.Lys33Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.94454,0.37687,0.1530905904750884,Neutral,Neutral,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.65,H,-0.1831,0.0469,-8.768,loss_of_function,-4.22704487200595,0.4514760127236096,0.8968550222103513,Pathogenic,0.7627,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33S,NP_000240:p.Lys33Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.11333,1.68265,1.5352308113472457,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3274,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9926990566705836,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33T,NP_000240:p.Lys33Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.50307,0.82245,1.0665202870161887,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.2714,0.0469,-8.768,loss_of_function,-7.00955533749782,0.10797239695416834,0.9922409920480142,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33V,NP_000240:p.Lys33Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.18765,1.13299,0.0305661799315604,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.65,H,-0.3395,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.991023851675268,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33W,NP_000240:p.Lys33Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.28358,1.23061,-0.5825939454984252,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.65,H,-0.3974,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9919598596295578,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K33Y,NP_000240:p.Lys33Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.04873,1.45578,-0.0823447162041174,Uncertain,Uncertain,False,0.066,,,,,,,,,,10.9,,False,10.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.65,H,-0.3732,0.0469,-22.0559,loss_of_function,-7.00955533749782,0.10797239695416834,0.9910757597933034,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34A,NP_000240:p.Glu34Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.97102,3.34286,1.197487495808604,Uncertain,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,2673558,Likely pathogenic,1,91.35,H,-0.3176,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9943639288602087,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34C,NP_000240:p.Glu34Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.82765,3.55374,1.6277621774903623,Uncertain,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.3869,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9954002834773964,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34D,NP_000240:p.Glu34Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.63687,-1.54388,1.3811597906255448,Neutral,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,"2176749, 855922","Uncertain significance, Uncertain significance","1, 2",91.35,H,-0.2833,0.0235,-22.0559,loss_of_function,-3.47175555354437,0.5447172116557141,0.9938960448008478,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34F,NP_000240:p.Glu34Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-4.86438,1.51905,-0.5192471034233587,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3645,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9949521446881184,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34G,NP_000240:p.Glu34Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.73333,4.94116,2.290675671265497,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.3433,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9950330031189114,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34H,NP_000240:p.Glu34His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.50157,2.28095,0.358444966306008,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3558,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9952693653059608,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34I,NP_000240:p.Glu34Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.56473,1.34898,0.1489991575313104,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3699,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9946723431980556,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34K,NP_000240:p.Glu34Lys,"hg19,3:g.37035138G>A, hg38,3:g.36993647G>A",,,0.939,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.24137,5.2102,1.5128954522153384,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,619551,Conflicting classifications of pathogenicity,1,91.35,H,-0.2717,0.0235,-8.768,loss_of_function,-7.01008129059799,0.10790746753382145,0.9945447730456128,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34L,NP_000240:p.Glu34Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-3.9608,1.9449,-0.0423442263489842,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.372,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9946930765654812,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34M,NP_000240:p.Glu34Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-4.00316,2.4085,0.4018327925110199,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3208,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9956620574262326,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34N,NP_000240:p.Glu34Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.77057,3.56769,1.172472024976983,Uncertain,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.3438,0.0235,-22.0559,loss_of_function,-4.22704487200595,0.4514760127236096,0.9954401991245264,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34P,NP_000240:p.Glu34Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.58409,12.5415,6.299135832712271,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.4745,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9951872141378544,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34Q,NP_000240:p.Glu34Gln,"hg19,3:g.37035138G>C",,,0.923,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.62926,2.83639,1.0568467857137145,Uncertain,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.2901,0.0235,-22.0559,loss_of_function,-4.22704487200595,0.4514760127236096,0.9947628520709836,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34R,NP_000240:p.Glu34Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.77527,5.97789,1.008912251228915,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.4001,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9938608615673948,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34S,NP_000240:p.Glu34Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.80452,4.04966,1.8142700156136256,Uncertain,Neutral,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.331,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.994621089069913,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34T,NP_000240:p.Glu34Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.45306,3.05408,1.288823089634758,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.35,H,-0.3469,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9935762332242551,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34V,NP_000240:p.Glu34Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.47463,2.26429,0.4209387457684155,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1057610,Uncertain significance,2,91.35,H,-0.3308,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9961303205922236,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34W,NP_000240:p.Glu34Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.0706,2.46871,-0.7722062386467432,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3746,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9946409701152856,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E34Y,NP_000240:p.Glu34Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-3.70637,2.66497,-0.449745467192949,Uncertain,Uncertain,False,0.075,,,,,,,,,,7.8,,False,7.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.35,H,-0.3654,0.0235,-22.0559,loss_of_function,-7.01008129059799,0.10790746753382145,0.9948214120446794,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35A,NP_000240:p.Met35Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.22618,2.86599,2.3099291280183567,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.3042,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.968886112241632,Pathogenic,0.9409,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35C,NP_000240:p.Met35Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.36233,2.64694,2.779775299390286,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.3097,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.7828735085240306,Pathogenic,0.9395,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35D,NP_000240:p.Met35Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.04119,3.79558,3.4577808604634024,Destabilizing,Destabilizing,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.4157,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9570351794826606,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35E,NP_000240:p.Met35Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.07313,3.38776,2.715057102118157,Destabilizing,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.4059,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9578069061234092,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35F,NP_000240:p.Met35Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.5331,1.68912,-0.1972141369090096,Neutral,Neutral,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.96,H,-0.3093,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.8303384618074673,Pathogenic,0.9323,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35G,NP_000240:p.Met35Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.89651,4.3034,4.199514405509975,Destabilizing,Destabilizing,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.3851,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9610507276264644,Pathogenic,0.9823,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35H,NP_000240:p.Met35His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.90824,3.05374,1.4656756681701022,Destabilizing,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.3625,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9681873121774662,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35I,NP_000240:p.Met35Ile,"hg19,3:g.37035143G>A, hg38,3:g.36993652G>A",,,0.698,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.40062,0.26531,0.4138210982909202,Neutral,Neutral,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,525781,Uncertain significance,1,93.96,H,-0.1456,1.049,-7.1832,loss_of_function,-2.12524087821417,0.7109457543328307,0.3243461694284165,Uncertain,0.871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35K,NP_000240:p.Met35Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.81283,5.3466,2.7617221751063017,Destabilizing,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,974958,Conflicting classifications of pathogenicity,1,93.96,H,-0.3668,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9690715936091998,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35L,NP_000240:p.Met35Leu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.5148,0.1,-0.1823660156171025,Neutral,Neutral,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,2708441,Uncertain significance,1,93.96,H,-0.0799,1.049,-0.7682,loss_of_function,-0.640541915611313,0.8942332813010595,0.0018648746810899,Benign,0.133,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35N,NP_000240:p.Met35Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.18819,2.62687,2.2843424573594686,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,17105,Pathogenic,3,93.96,H,-0.3573,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9673494604125712,Pathogenic,0.9886,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35P,NP_000240:p.Met35Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.30649,11.40986,7.92843649164602,Destabilizing,Destabilizing,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.4752,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9659033045714563,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35Q,NP_000240:p.Met35Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.9517,2.16395,1.9544200959051845,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.3494,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9663645689606282,Pathogenic,0.9829,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35R,NP_000240:p.Met35Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.41911,5.96259,1.8039767378059128,Destabilizing,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89631,Pathogenic,3,93.96,H,-0.3941,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9585766922968724,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35S,NP_000240:p.Met35Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.78105,3.66429,3.423726410649064,Destabilizing,Destabilizing,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.2678,1.049,-8.768,loss_of_function,-5.52325675070719,0.29145739907988055,0.962310901167408,Pathogenic,0.9757,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35T,NP_000240:p.Met35Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.39168,2.60544,2.5745628784629657,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.96,H,-0.2754,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9354435030116156,Pathogenic,0.9372,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35V,NP_000240:p.Met35Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.1995,1.35578,0.8667148709405592,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,232314,Conflicting classifications of pathogenicity,1,93.96,H,-0.2536,1.049,-22.0559,loss_of_function,-2.90076584206672,0.6152064453503127,0.7297430694343543,Pathogenic,0.5654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35W,NP_000240:p.Met35Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.47396,3.69286,0.1700920648491394,Destabilizing,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.96,H,-0.3721,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9528829258704562,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M35Y,NP_000240:p.Met35Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.15327,2.28197,0.5774627359415554,Uncertain,Uncertain,False,0.133,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.96,H,-0.3516,1.049,-22.0559,loss_of_function,-5.52325675070719,0.29145739907988055,0.9572181005232138,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36A,NP_000240:p.Ile36Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.75234,3.5898,3.515467431588553,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.2953,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.7132127841945551,Pathogenic,0.428,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36C,NP_000240:p.Ile36Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.50469,2.9619,3.3737145395662496,Uncertain,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.2753,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.8711800678010725,Pathogenic,0.8373,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36D,NP_000240:p.Ile36Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.61197,4.2949,4.799966701228778,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.4194,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.9559198702162311,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36E,NP_000240:p.Ile36Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.55501,4.63367,4.328581571186818,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.4003,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.9505190275041266,Pathogenic,0.9789,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36F,NP_000240:p.Ile36Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.3766,3.87449,2.308950767841464,Destabilizing,Uncertain,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,455372,Uncertain significance,1,94.47,H,-0.1885,1.4133,-8.7714,loss_of_function,-2.64921103694949,0.6462611300293407,0.4806937694228724,Uncertain,0.4703,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36G,NP_000240:p.Ile36Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.57993,5.85204,5.316919726619133,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.386,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.956088331591823,Pathogenic,0.9226,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36H,NP_000240:p.Ile36His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86474,4.27993,3.3631628582992548,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.3859,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.9474555975326852,Pathogenic,0.9857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36K,NP_000240:p.Ile36Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.76033,6.22993,5.794905789389264,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.47,H,-0.3928,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.949179708052288,Pathogenic,0.9737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36L,NP_000240:p.Ile36Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40028,0.71701,1.2376097623802371,Neutral,Neutral,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.47,H,-0.0804,1.4133,-2.4316,loss_of_function,-0.0688471418771113,0.9648095556150813,0.0007820543981757,Benign,0.0801,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36M,NP_000240:p.Ile36Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59593,1.2483,1.9826515044182105,Neutral,Neutral,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,182535,Uncertain significance,2,94.47,H,-0.0929,1.4133,-3.7715,loss_of_function,-0.266619006058705,0.9403944271595515,0.0558545895741343,Benign,0.0617,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36N,NP_000240:p.Ile36Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.92419,3.31837,3.404600952905794,Uncertain,Uncertain,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1786123,Uncertain significance,1,94.47,H,-0.3325,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.944108423725072,Pathogenic,0.9471,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36P,NP_000240:p.Ile36Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.75925,13.24932,8.936839887429489,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.3716,1.4133,-8.7714,loss_of_function,-3.57762075040416,0.5316480504229086,0.957617239719612,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36Q,NP_000240:p.Ile36Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.47762,3.36735,3.4169865867471243,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.36,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.9463341412755076,Pathogenic,0.9574,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36R,NP_000240:p.Ile36Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.1095,5.99184,4.845177946235616,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.47,H,-0.4196,1.4133,-22.0592,loss_of_function,-3.57762075040416,0.5316480504229086,0.951825377040528,Pathogenic,0.9622,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36S,NP_000240:p.Ile36Ser,"hg19,3:g.37035145T>G",,,0.935,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.08665,4.5085,4.351953664137464,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.47,H,-0.3359,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.9362563888924922,Pathogenic,0.7674,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36T,NP_000240:p.Ile36Thr,"hg19,3:g.37035145T>C",,3.9880040837e-06,0.896,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.64509,2.57857,2.9742177823953417,Uncertain,Uncertain,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,577034,Uncertain significance,2,94.47,H,-0.1798,1.4133,-7.7714,loss_of_function,-2.76601039479328,0.6318421360178309,0.6194450292937146,Uncertain,0.2319,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36V,NP_000240:p.Ile36Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.26559,0.70102,1.36269346385433,Neutral,Neutral,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,2586627,Uncertain significance,1,94.47,H,-0.0495,1.4133,-4.1865,loss_of_function,-0.211801666127251,0.9471616809423646,0.1414025948519617,Benign,0.0644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36W,NP_000240:p.Ile36Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.41508,6.02041,3.888017774302513,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.47,H,-0.3452,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.949532263580301,Pathogenic,0.9696,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I36Y,NP_000240:p.Ile36Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.44788,5.48061,3.580475246243681,Destabilizing,Destabilizing,False,0.144,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.47,H,-0.3541,1.4133,-22.0592,loss_of_function,-3.28805068119901,0.567395756325245,0.947561912279392,Pathogenic,0.9536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37A,NP_000240:p.Glu37Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.60409,0.31633,2.154311290411038,Neutral,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.3176,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9933221447336588,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37C,NP_000240:p.Glu37Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.88233,0.73912,2.468249208987756,Neutral,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.3869,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9940823601699962,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37D,NP_000240:p.Glu37Asp,"hg19,3:g.37035149G>C, hg19,3:g.37035149G>T, hg38,3:g.36993658G>C",,,"0.903, 0.904","cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03609,0.9983,2.6384402545002,Neutral,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"455373, 220346","Uncertain significance, Uncertain significance","1, 1",92.29,H,-0.2833,0.0235,-22.0592,loss_of_function,-4.22704487200595,0.4514760127236096,0.8000422863473353,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37F,NP_000240:p.Glu37Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.92312,0.57143,1.8570930072022287,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3646,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.995083034111145,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37G,NP_000240:p.Glu37Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.08026,2.05102,3.3244272292322394,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,230139,Conflicting classifications of pathogenicity,1,92.29,H,-0.3433,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9938726159597866,Pathogenic,0.9807,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37H,NP_000240:p.Glu37His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.69285,0.49694,2.20300835216052,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3558,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.992284251538001,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37I,NP_000240:p.Glu37Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.89057,1.24966,1.734095665473629,Neutral,Neutral,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3699,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9938381351778044,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37K,NP_000240:p.Glu37Lys,"hg19,3:g.37035147G>A, hg38,3:g.36993656G>A",,,0.954,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.29107,2.73027,3.3788096796281053,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,89640,Pathogenic/Likely pathogenic,2,92.29,H,-0.3396,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9952749999838744,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37L,NP_000240:p.Glu37Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00249,0.30816,1.1703584577007242,Neutral,Neutral,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.372,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9943210231453624,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37M,NP_000240:p.Glu37Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.87031,0.0619,1.6221650909114866,Neutral,Neutral,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3209,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9942789044466585,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37N,NP_000240:p.Glu37Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.78439,0.35272,2.3161221688655376,Neutral,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.3438,0.0235,-22.0592,loss_of_function,-4.22704487200595,0.4514760127236096,0.9939859885262012,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37P,NP_000240:p.Glu37Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.24043,10.36633,8.158829883025561,Destabilizing,Destabilizing,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.4067,0.0235,-8.7714,loss_of_function,-7.01073763038915,0.10782644175000747,0.9936205237720694,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37Q,NP_000240:p.Glu37Gln,"hg19,3:g.37035147G>C, hg38,3:g.36993656G>C",,,0.970,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46247,0.66224,1.8077416754023,Neutral,Neutral,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,231565,Conflicting classifications of pathogenicity,1,92.29,H,-0.2901,0.0235,-22.0592,loss_of_function,-4.22704487200595,0.4514760127236096,0.9935807473357744,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37R,NP_000240:p.Glu37Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.94376,2.52449,2.69107149752827,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.4001,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9938881772690612,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37S,NP_000240:p.Glu37Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.41681,1.38878,2.9485862016413416,Neutral,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.331,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9934766830828048,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37T,NP_000240:p.Glu37Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.37992,1.88129,2.481249546646426,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.29,H,-0.3469,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.99432803833615,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37V,NP_000240:p.Glu37Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.59947,1.21735,1.6995539362182002,Neutral,Neutral,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.29,H,-0.3308,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9936497736514908,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37W,NP_000240:p.Glu37Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.19928,0.90408,2.035017843032521,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3746,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9948322275503856,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E37Y,NP_000240:p.Glu37Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.54116,1.05884,2.327610515472086,Uncertain,Uncertain,False,0.082,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.29,H,-0.3654,0.0235,-22.0592,loss_of_function,-7.01073763038915,0.10782644175000747,0.9935971859781926,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38A,NP_000240:p.Asn38Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.825,0.59762,0.2045725507947277,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.31,H,-0.3259,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.99516443794865,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38C,NP_000240:p.Asn38Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.55358,0.72483,0.9434925029387636,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.31,H,-0.3757,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9955919898081989,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38D,NP_000240:p.Asn38Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.28216,-3.26531,0.6333444597937188,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.31,H,-0.3291,0.0234,-22.0625,loss_of_function,-4.22704487200595,0.4514760127236096,0.9944039625503605,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38E,NP_000240:p.Asn38Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.9891,0.27993,0.1796833515022788,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3562,0.0234,-22.0625,loss_of_function,-4.22704487200595,0.4514760127236096,0.9948965572010948,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38F,NP_000240:p.Asn38Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.59148,1.95102,-1.2412259254554718,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.383,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9943583205201242,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38G,NP_000240:p.Asn38Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37832,2.04524,1.2550662449546206,Uncertain,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.31,H,-0.3566,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9949944450084882,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38H,NP_000240:p.Asn38His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.57848,2.62177,-0.5228856298084811,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89645,Pathogenic,3,92.31,H,-0.263,0.0234,-8.7746,loss_of_function,-7.0111308485002,0.10777789859280938,0.9941478781280084,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38I,NP_000240:p.Asn38Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.36091,0.15442,-0.5506741501482137,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3761,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.995190250081676,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38K,NP_000240:p.Asn38Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.86354,4.2017,0.0557023237819426,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,"561169, 89651","Likely pathogenic, Pathogenic","3, 3",92.31,H,-0.3291,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.99493517010608,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38L,NP_000240:p.Asn38Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.94041,0.21224,-1.198801291452856,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3825,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9948371033653418,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38M,NP_000240:p.Asn38Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.78451,0.5619,-0.6780531751034213,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3367,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9959978345491088,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38P,NP_000240:p.Asn38Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.40879,12.21327,8.876738858761389,Destabilizing,Destabilizing,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.31,H,-0.4915,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9950303429445878,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38Q,NP_000240:p.Asn38Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.71252,1.73299,0.0854347615253342,Uncertain,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3198,0.0234,-22.0625,loss_of_function,-1.0713530078384,0.8410492341145821,0.9945326744391692,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38R,NP_000240:p.Asn38Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.91768,5.27075,-0.4430980071978074,Destabilizing,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3612,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9936328247906504,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38S,NP_000240:p.Asn38Ser,"hg19,3:g.37035151A>G, hg38,3:g.36993660A>G",,,0.909,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.30648,0.87585,0.9080169585599552,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,89648,Pathogenic,3,92.31,H,-0.2958,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9941559554317332,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38T,NP_000240:p.Asn38Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.62132,0.26463,0.4889196975912663,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,619503,Conflicting classifications of pathogenicity,1,92.31,H,-0.3453,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.994865205940274,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38V,NP_000240:p.Asn38Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99993,0.81837,-0.2875079785549855,Neutral,Neutral,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3695,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9949562057487308,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38W,NP_000240:p.Asn38Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.88546,3.69966,-1.6087632195067108,Destabilizing,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.31,H,-0.3881,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.993652892290553,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N38Y,NP_000240:p.Asn38Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.18072,3.07313,-1.0609784752022116,Destabilizing,Uncertain,False,0.077,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,955911,Pathogenic/Likely pathogenic,2,92.31,H,-0.3666,0.0234,-22.0625,loss_of_function,-7.0111308485002,0.10777789859280938,0.9950158548738072,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39A,NP_000240:p.Cys39Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01257,-0.71769,0.6965499630067775,Neutral,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.17,H,-0.2544,1.5041,-2.7021,loss_of_function,-1.58277138753947,0.7779141391070554,0.0148147878643076,Benign,0.3596,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39D,NP_000240:p.Cys39Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.942,0.93401,2.7923390977331377,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.17,H,-0.4604,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8737343207575312,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39E,NP_000240:p.Cys39Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.83289,3.48537,2.713076533276043,Destabilizing,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.4481,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8447135168831346,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39F,NP_000240:p.Cys39Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.11007,-0.49422,0.3142588519167544,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89663,Uncertain significance,3,94.17,H,-0.3472,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8710982289268847,Pathogenic,0.9857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39G,NP_000240:p.Cys39Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.05653,1.26361,2.387013536034689,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.17,H,-0.3456,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.4334056873949571,Uncertain,0.3418,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39H,NP_000240:p.Cys39His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.0779,1.14218,0.9842659209052153,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.4589,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8353170373350485,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39I,NP_000240:p.Cys39Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.58502,0.63095,0.7700792114593799,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.377,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.86836801616998,Pathogenic,0.9738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39K,NP_000240:p.Cys39Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.751,5.41259,2.878117744495712,Destabilizing,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.4487,1.5041,-22.0559,loss_of_function,-4.56650580645436,0.4095692311169897,0.8470501039198153,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39L,NP_000240:p.Cys39Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.5555,2.02619,0.3506133941057965,Uncertain,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.4101,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8747344326014292,Pathogenic,0.9637,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39M,NP_000240:p.Cys39Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.87435,-0.12551,0.7204424394167249,Neutral,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.3773,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8370781436906302,Pathogenic,0.9802,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39N,NP_000240:p.Cys39Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.65938,0.53231,1.2996748455329392,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.335,1.5041,-8.768,loss_of_function,-4.73136393187874,0.38921733563463573,0.8516669073003811,Pathogenic,0.9551,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39P,NP_000240:p.Cys39Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.0265,8.4898,5.41713978103672,Destabilizing,Destabilizing,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.17,H,-0.4715,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8276268959506417,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39Q,NP_000240:p.Cys39Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.0975,1.51803,1.5620683764496213,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.4268,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8598905040818378,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39R,NP_000240:p.Cys39Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.72087,4.88605,1.74294031836528,Destabilizing,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89655,Conflicting classifications of pathogenicity,1,94.17,H,-0.4054,1.5041,-22.0559,loss_of_function,-3.86457919658778,0.496222751915638,0.8705705555993964,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39S,NP_000240:p.Cys39Ser,"hg38,3:g.36993663G>C",,,0.532,"COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00629,0.4534,1.9266981043884983,Neutral,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.17,H,-0.2373,1.5041,-1.1609,loss_of_function,-0.257137913655138,0.9415648772126454,4.056869818804034e-05,Benign,0.1584,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39T,NP_000240:p.Cys39Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.45983,1.3017,1.1429406685792416,Neutral,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.3108,1.5041,-8.768,loss_of_function,-2.85192429467235,0.6212359817483994,0.6924061669496575,Pathogenic,0.7447,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39V,NP_000240:p.Cys39Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.08789,0.99014,0.6319574194564822,Neutral,Neutral,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.17,H,-0.3751,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8882928598315112,Pathogenic,0.8959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39W,NP_000240:p.Cys39Trp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.10202,2.43435,1.6246543132420015,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,455377,Conflicting classifications of pathogenicity,1,94.17,H,-0.3503,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.866843768765237,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C39Y,NP_000240:p.Cys39Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.31186,0.13741,1.3173607910002865,Uncertain,Uncertain,False,0.119,,,,,,,,,,3.5,,False,3.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89662,Uncertain significance,3,94.17,H,-0.3565,1.5041,-22.0559,loss_of_function,-4.73136393187874,0.38921733563463573,0.8516870266475653,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40A,NP_000240:p.Leu40Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.13093,3.49422,3.781236270639903,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3307,0.9563,-22.0789,loss_of_function,-4.8053517480465,0.38008346796667797,0.9136812611503986,Pathogenic,0.864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40C,NP_000240:p.Leu40Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.12245,3.04014,3.7913620902562126,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3199,0.9563,-22.0789,loss_of_function,-4.8053517480465,0.38008346796667797,0.9565451939270206,Pathogenic,0.8361,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40D,NP_000240:p.Leu40Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.72597,4.76293,4.463341234573828,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.4522,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9604893897887492,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40E,NP_000240:p.Leu40Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.14223,4.52993,4.264444081283658,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.4203,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9671856048280044,Pathogenic,0.9797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40F,NP_000240:p.Leu40Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.39815,1.06395,2.085164382373038,Uncertain,Uncertain,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,818578,Uncertain significance,2,92.78,H,-0.2642,0.9563,-22.0789,loss_of_function,-4.05863785330684,0.47226602252286126,0.8032234830816332,Pathogenic,0.6801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40G,NP_000240:p.Leu40Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.47326,5.04932,5.442500824686234,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.4055,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9693475510766072,Pathogenic,0.9811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40H,NP_000240:p.Leu40His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.11865,2.9,3.1585663253488594,Uncertain,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3731,0.9563,-22.0789,loss_of_function,-4.63195404935763,0.4014895820512113,0.9526441822382734,Pathogenic,0.9337,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40I,NP_000240:p.Leu40Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48373,1.12857,1.8438521192755344,Neutral,Neutral,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.78,H,-0.1122,0.9563,-3.9332,loss_of_function,-1.80558120020665,0.7504080516262457,0.0150684060250579,Benign,0.1002,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40K,NP_000240:p.Leu40Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.54798,5.78605,5.327151750813941,Uncertain,Uncertain,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.78,H,-0.4193,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9646379096509512,Pathogenic,0.931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40M,NP_000240:p.Leu40Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35808,1.68537,2.1627185788447725,Neutral,Uncertain,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.78,H,-0.2281,0.9563,-22.0789,loss_of_function,-2.3144123344661,0.6875923545779005,0.6079863360769757,Uncertain,0.2607,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40N,NP_000240:p.Leu40Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.19032,3.14864,3.4873998659280714,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3985,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.961868338537039,Pathogenic,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40P,NP_000240:p.Leu40Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.19567,10.81905,8.816025923364984,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.4141,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9603809891308024,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40Q,NP_000240:p.Leu40Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.41297,3.67347,3.34522331417496,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3515,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9494278910016452,Pathogenic,0.8683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40R,NP_000240:p.Leu40Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.8951,4.01224,4.320310298703576,Uncertain,Uncertain,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.78,H,-0.4109,0.9563,-22.0789,loss_of_function,-4.97874944673538,0.35867735388214345,0.9657420386618478,Pathogenic,0.8532,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40S,NP_000240:p.Leu40Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.6288,4.4881,4.607174401630388,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,2747509,Uncertain significance,1,92.78,H,-0.3611,0.9563,-22.0789,loss_of_function,-4.8053517480465,0.38008346796667797,0.9682218295719158,Pathogenic,0.9505,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40T,NP_000240:p.Leu40Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.04699,3.89218,3.70769098560798,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.3338,0.9563,-22.0789,loss_of_function,-4.8053517480465,0.38008346796667797,0.9665139062869608,Pathogenic,0.7876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40V,NP_000240:p.Leu40Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.83639,2.37551,2.3691100773096725,Uncertain,Uncertain,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.78,H,-0.1421,0.9563,-2.6826,loss_of_function,-1.89743163789398,0.7390690260064349,0.0379658142265838,Benign,0.1468,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40W,NP_000240:p.Leu40Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.81302,4.34762,3.4687186895244326,Destabilizing,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.78,H,-0.3633,0.9563,-22.0789,loss_of_function,-4.63195404935763,0.4014895820512113,0.9649616278130596,Pathogenic,0.8984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L40Y,NP_000240:p.Leu40Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.57943,2.73605,3.032061181785944,Uncertain,Destabilizing,False,0.062,,,,,,,,,,2.6,,False,2.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.78,H,-0.3562,0.9563,-22.0789,loss_of_function,-4.63195404935763,0.4014895820512113,0.959054935336037,Pathogenic,0.9543,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41A,NP_000240:p.Asp41Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.76898,2.54626,1.496513307007138,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,90.43,H,-0.3479,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9958876159797988,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41C,NP_000240:p.Asp41Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35718,2.3449,2.004254030698793,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,90.43,H,-0.3894,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9947369277729036,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41E,NP_000240:p.Asp41Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.79201,1.57925,1.7430865745943491,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.2928,0.0001,-22.0821,loss_of_function,-4.32776873710538,0.43904155388328625,0.9955325457613065,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41F,NP_000240:p.Asp41Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.52176,4.60782,1.0342092460483592,Destabilizing,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.448,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.995039310432573,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41G,NP_000240:p.Asp41Gly,"hg19,3:g.37038115A>G, hg38,3:g.36996624A>G",,,0.939,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.02794,3.93401,3.229918749973322,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,89684,Pathogenic,3,90.43,H,-0.359,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.994042877221902,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41H,NP_000240:p.Asp41His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.25695,5.41939,1.4207280246298517,Destabilizing,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,89682,Pathogenic,3,90.43,H,-0.3572,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9949254646899208,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41I,NP_000240:p.Asp41Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03766,2.7,1.5042174372352817,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.4402,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9939026278362072,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41K,NP_000240:p.Asp41Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.94702,7.53367,3.120994815093874,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.4186,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9940772365072024,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41L,NP_000240:p.Asp41Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.26877,2.08946,1.2004267811330995,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.4339,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9945181119300668,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41M,NP_000240:p.Asp41Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.62356,2.27687,1.5850175220985234,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.3726,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9946770394959428,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41N,NP_000240:p.Asp41Asn,"hg19,3:g.37038114G>A, hg38,3:g.36996623G>A",,,0.904,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99615,2.1483,1.0307137512392213,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1489661,Likely pathogenic,1,90.43,H,-0.3146,0.0001,-22.0821,loss_of_function,-4.32776873710538,0.43904155388328625,0.9948631289989424,Pathogenic,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41P,NP_000240:p.Asp41Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.69922,9.14422,7.42938236103652,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,90.43,H,-0.4848,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9947532810635008,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41Q,NP_000240:p.Asp41Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.32712,1.78912,1.9503573339147424,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.3748,0.0001,-22.0821,loss_of_function,-4.32776873710538,0.43904155388328625,0.9932359478349504,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41R,NP_000240:p.Asp41Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.55154,7.62109,2.4086303835654443,Destabilizing,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.4496,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9948398882886168,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41S,NP_000240:p.Asp41Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.78529,3.13333,2.1013440864684774,Uncertain,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,90.43,H,-0.3543,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.994582907495302,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41T,NP_000240:p.Asp41Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33683,3.01293,1.7808121440943558,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,90.43,H,-0.3843,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9948815989920736,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41V,NP_000240:p.Asp41Val,"hg19,3:g.37038115A>T",,,0.924,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10998,2.76735,1.2579104139862012,Uncertain,Neutral,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,455379,Pathogenic/Likely pathogenic,2,90.43,H,-0.3949,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9950091763139612,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41W,NP_000240:p.Asp41Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.25746,4.40068,0.7167785297697296,Destabilizing,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,,,,90.43,H,-0.4285,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9953895158710996,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D41Y,NP_000240:p.Asp41Tyr,"hg19,3:g.37038114G>T, hg38,3:g.36996623G>T",,,0.940,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.4588,4.70408,1.2655873841425076,Destabilizing,Uncertain,False,0.028,,,,,,,,,,12.5,,False,12.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,damaging,1752818,Likely pathogenic,2,90.43,H,-0.3929,0.0001,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9941614011905182,Pathogenic,0.987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42C,NP_000240:p.Ala42Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.34392,0.95204,1.2263857477501627,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.336,0.0417,-22.0821,loss_of_function,-4.32776873710538,0.43904155388328625,0.9917993821329828,Pathogenic,0.9032,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42D,NP_000240:p.Ala42Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.61513,2.72109,1.8219106849936584,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.4177,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9924757341775496,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42E,NP_000240:p.Ala42Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.86512,2.27109,1.5666285090963354,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.4033,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9932359478349504,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42F,NP_000240:p.Ala42Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",27.60734,0.53095,-0.5535186132160796,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3861,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9922934861993508,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42G,NP_000240:p.Ala42Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07613,1.20544,2.0254522601309484,Neutral,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,818732,Uncertain significance,2,92.14,T,-0.3295,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.96137082223037,Pathogenic,0.6635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42H,NP_000240:p.Ala42His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",19.2149,0.84898,0.1347447891495579,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3902,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9936626741416124,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42I,NP_000240:p.Ala42Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.56212,1.22347,0.3684103603072286,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3756,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9914560797275576,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42K,NP_000240:p.Ala42Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.04261,2.53946,0.9163679358114236,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.408,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9919430942192722,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42L,NP_000240:p.Ala42Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.79295,1.85782,-0.3972234783490791,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3803,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9923316783011074,Pathogenic,0.9708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42M,NP_000240:p.Ala42Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.13607,0.92993,0.1332310161216959,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3391,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9921192700451128,Pathogenic,0.9871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42N,NP_000240:p.Ala42Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.84972,0.72381,0.690584922755581,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3881,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9938023395439664,Pathogenic,0.984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42P,NP_000240:p.Ala42Pro,"hg19,3:g.37038117G>C",,,0.943,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.15665,8.03231,5.621794988491688,Destabilizing,Destabilizing,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.4574,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9922511286626984,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42Q,NP_000240:p.Ala42Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.91465,1.68333,0.7270165686250335,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.3855,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9932739683236762,Pathogenic,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42R,NP_000240:p.Ala42Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.66282,1.84184,0.2277234683936019,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.4187,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9926312402654542,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42S,NP_000240:p.Ala42Ser,"hg19,3:g.37038117G>T",,,0.922,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.72941,1.3381,1.3873290661158846,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.14,T,-0.2278,0.0417,-7.7944,loss_of_function,-3.23370431468148,0.5741048679833041,0.6905265686080343,Pathogenic,0.2691,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42T,NP_000240:p.Ala42Thr,"hg19,3:g.37038117G>A",,,0.948,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.06435,1.60136,1.31211651244385,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1010053,Uncertain significance,1,92.14,T,-0.3066,0.0417,-22.0821,loss_of_function,-4.32776873710538,0.43904155388328625,0.9906147475529834,Pathogenic,0.9046,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42V,NP_000240:p.Ala42Val,"hg19,3:g.37038118C>T",,3.9771868562e-06,0.938,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.55261,1.02551,0.627727976928997,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89688,Uncertain significance,2,92.14,T,-0.3036,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9921599000667288,Pathogenic,0.9583,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42W,NP_000240:p.Ala42Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",28.0028,1.61837,-0.543186100548318,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.397,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.9912381906488535,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A42Y,NP_000240:p.Ala42Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",32.44392,0.91259,-0.1704927901781888,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,False,37.8,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.14,T,-0.4052,0.0417,-22.0821,loss_of_function,-7.18602277343861,0.08618732082849474,0.993446253727858,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43A,NP_000240:p.Lys43Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.59178,0.53946,0.6589109155736219,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1174,1.4837,-8.7943,loss_of_function,-2.66738681387168,0.6440173127392996,0.3108091625211727,Benign,0.2669,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43C,NP_000240:p.Lys43Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.34254,1.0585,1.0891117259496548,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.2554,1.4837,-22.0821,loss_of_function,-2.69116033668346,0.6410824482898392,0.8432522748880389,Pathogenic,0.4198,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43D,NP_000240:p.Lys43Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.88859,0.35272,0.46358926763572,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.2264,1.4837,-8.7943,loss_of_function,-2.2549741574568,0.6949300551798026,0.6146606786047634,Uncertain,0.4622,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43E,NP_000240:p.Lys43Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.88007,0.30136,0.5494078931760501,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1342,1.4837,-7.2094,loss_of_function,-0.563496329201908,0.9037446336711319,0.3713552244553645,Uncertain,0.1515,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43F,NP_000240:p.Lys43Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35153,0.20476,0.1762697252209571,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.29,T,-0.2563,1.4837,-22.0821,loss_of_function,-3.36674600154149,0.5576807427010293,0.9308634209067193,Pathogenic,0.7786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43G,NP_000240:p.Lys43Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.98952,-0.06259,0.6653671776278416,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.138,1.4837,-1.2322,loss_of_function,-0.57217673381427,0.902673029302463,0.0025827970382188,Benign,0.189,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43H,NP_000240:p.Lys43His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.19242,-0.17245,0.145015778508577,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1143,1.4837,-6.2094,loss_of_function,-1.92878316011619,0.7351986501797257,0.1537001374681751,Benign,0.2022,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43I,NP_000240:p.Lys43Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.4343,4.78027,1.108922994571297,Destabilizing,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.29,T,-0.2235,1.4837,-22.0821,loss_of_function,-4.07777686968046,0.4699032923882787,0.9467722887510216,Pathogenic,0.631,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43L,NP_000240:p.Lys43Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.53674,0.32789,-0.0154589576045605,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.29,T,-0.2222,1.4837,-22.0821,loss_of_function,-4.07777686968046,0.4699032923882787,0.7677391802817292,Pathogenic,0.4132,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43M,NP_000240:p.Lys43Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.47586,0.87041,0.3133581338219904,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1953,1.4837,-22.0821,loss_of_function,-4.07777686968046,0.4699032923882787,0.7997025119842482,Pathogenic,0.3142,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43N,NP_000240:p.Lys43Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.95368,-0.25238,0.1985811403879694,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1238,1.4837,-6.4725,loss_of_function,-1.2593465409302,0.8178412501162577,0.1498945057490441,Benign,0.2881,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43P,NP_000240:p.Lys43Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.71668,18.57891,5.532367730817556,Destabilizing,Destabilizing,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.3595,1.4837,-22.0821,loss_of_function,-4.40028438985139,0.43008942621762,0.954243873231676,Pathogenic,0.9114,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43Q,NP_000240:p.Lys43Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.8867,0.16293,0.5523662928203277,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1048,1.4837,-6.4725,loss_of_function,-0.47802223751388,0.9142964931928018,0.0770585679220352,Benign,0.1077,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43R,NP_000240:p.Lys43Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.18284,0.37143,0.0528819566321864,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,3230745,Uncertain significance,1,92.29,T,-0.0367,1.4837,-5.987,loss_of_function,-0.518332593391099,0.9093201406620558,0.0719887176163793,Benign,0.0823,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43S,NP_000240:p.Lys43Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.37446,0.53231,0.8009509674084586,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.1194,1.4837,-7.2094,loss_of_function,-2.24045284661062,0.6967227250882311,0.4390516422300791,Uncertain,0.2665,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43T,NP_000240:p.Lys43Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.93718,2.03367,1.080773663598208,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.2072,1.4837,-22.0821,loss_of_function,-3.28652231081058,0.5675844351320892,0.8872636878739085,Pathogenic,0.2288,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43V,NP_000240:p.Lys43Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.33103,4.50748,0.9321476472379951,Destabilizing,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.29,T,-0.2074,1.4837,-22.0821,loss_of_function,-3.95261278789179,0.4853549196838728,0.8818544542530298,Pathogenic,0.476,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43W,NP_000240:p.Lys43Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.43836,0.83197,0.0728307666656041,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.29,T,-0.2653,1.4837,-22.0821,loss_of_function,-3.36674600154149,0.5576807427010293,0.9577544197933796,Pathogenic,0.8225,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K43Y,NP_000240:p.Lys43Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4211,0.12857,0.2829384780440219,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,92.0,,False,92.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.29,T,-0.2412,1.4837,-22.0821,loss_of_function,-3.36674600154149,0.5576807427010293,0.8985106314419723,Pathogenic,0.6286,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44A,NP_000240:p.Ser44Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.32441,-0.59082,-1.0931979005050534,Neutral,Neutral,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,uncertain,uncertain,damaging,,,,95.22,-,-0.0713,1.1238,-1.5183,loss_of_function,-0.0823776804135383,0.9631391975092588,0.0017541879427744,Benign,0.053,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44C,NP_000240:p.Ser44Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.8093,-0.16633,0.0203320957516034,Uncertain,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,639639,Uncertain significance,2,95.22,-,-0.1413,1.1238,-5.335,loss_of_function,-0.108189871372959,0.959952657499633,0.4608077058562673,Uncertain,0.2188,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44D,NP_000240:p.Ser44Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.07448,3.6585,2.125085616832948,Destabilizing,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.275,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.940544944370235,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44E,NP_000240:p.Ser44Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.17593,5.66224,3.022706545519434,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2482,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.940469518299658,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44F,NP_000240:p.Ser44Phe,"hg38,3:g.36996633C>T",,,0.837,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",26.39368,27.4915,3.202598512904921,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,"1048910, 17079","Pathogenic/Likely pathogenic, Pathogenic","2, 3",95.22,-,-0.2543,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9582928015764124,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44G,NP_000240:p.Ser44Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.19505,1.65578,0.786505768871937,Uncertain,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.22,-,-0.1854,1.1238,-22.0821,loss_of_function,-3.88911271528613,0.4931940652368475,0.6682068253775939,Uncertain,0.2846,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44H,NP_000240:p.Ser44His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.23044,5.48605,3.3248324560742804,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2556,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9532459585403548,Pathogenic,0.9907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44I,NP_000240:p.Ser44Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.19271,1.93776,1.0999325766040675,Uncertain,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2575,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9293641986910064,Pathogenic,0.9708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44K,NP_000240:p.Ser44Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.05682,16.16565,4.500807471268282,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2649,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9545957696868804,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44L,NP_000240:p.Ser44Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.86304,5.40918,1.418368522496668,Destabilizing,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2537,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9400719006599328,Pathogenic,0.8414,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44M,NP_000240:p.Ser44Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.55811,7.18401,1.8100468433569183,Destabilizing,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2248,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9448774987240776,Pathogenic,0.9238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44N,NP_000240:p.Ser44Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.46783,4.24116,0.8794318969974446,Destabilizing,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.1986,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9524765033114369,Pathogenic,0.953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44P,NP_000240:p.Ser44Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.47854,3.07687,4.530293648166778,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,3074546,Uncertain significance,1,95.22,-,-0.3297,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9487232559181872,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44Q,NP_000240:p.Ser44Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.2394,4.52687,2.283158281623766,Destabilizing,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2182,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9535479442558024,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44R,NP_000240:p.Ser44Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.20894,7.99932,3.762740859913821,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2702,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9488980817427556,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44T,NP_000240:p.Ser44Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.25293,-0.66565,0.1812821210416332,Uncertain,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,neutral,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.094,1.1238,-7.7944,loss_of_function,-1.85923874133051,0.7437839761311386,0.8025614034165678,Pathogenic,0.436,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44V,NP_000240:p.Ser44Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.32004,0.48776,-0.2807904372646941,Uncertain,Uncertain,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.2317,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.961960647031124,Pathogenic,0.8398,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44W,NP_000240:p.Ser44Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",38.17238,22.06531,4.114364725420183,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,,,,95.22,-,-0.264,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9405476347373888,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S44Y,NP_000240:p.Ser44Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",29.99426,27.99524,3.876572663097433,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,damaging,619504,Pathogenic/Likely pathogenic,2,95.22,-,-0.2592,1.1238,-22.0821,loss_of_function,-4.27816732176409,0.4451648967164293,0.9517368562641656,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45A,NP_000240:p.Thr45Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.84598,0.79286,0.0249597582907168,Neutral,Neutral,False,0.022,,,0.0,,,-0.02395,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,DOWN,neutral,neutral,neutral,405429,Uncertain significance,2,95.13,S,-0.1839,0.7634,-8.7943,loss_of_function,-2.75161224771013,0.6336196012402548,0.5676430497634036,Uncertain,0.0924,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45C,NP_000240:p.Thr45Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52755,1.27823,0.7124884169363249,Neutral,Neutral,False,0.022,,,0.0,,,-0.00469,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.13,S,-0.2876,0.7634,-22.0821,loss_of_function,-3.15889226449917,0.5833404881397967,0.971762351281418,Pathogenic,0.3473,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45D,NP_000240:p.Thr45Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.85273,0.86054,0.0629385666366599,Neutral,Neutral,False,0.022,,,0.07761,,,0.00462,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.13,S,-0.3673,0.7634,-22.0821,loss_of_function,-3.7346571390286,0.5122617559349435,0.6393853512441423,Uncertain,0.3515,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45E,NP_000240:p.Thr45Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6224,0.51939,-0.2176829380045564,Neutral,Neutral,False,0.022,,,0.09158,,,0.01191,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.3426,0.7634,-22.0821,loss_of_function,-4.21943098608238,0.45241595432571247,0.7018563709509872,Pathogenic,0.3803,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45F,NP_000240:p.Thr45Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.24384,0.28367,-0.4854398629607426,Neutral,Neutral,False,0.022,,,0.0,,,0.01494,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.359,0.7634,-22.0821,loss_of_function,-5.05111117703017,0.3497442280923723,0.9426012738274344,Pathogenic,0.4727,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45G,NP_000240:p.Thr45Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.86802,1.2415,0.722392285167174,Neutral,Neutral,False,0.022,,,2e-05,,,0.00761,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.13,S,-0.2574,0.7634,-8.7943,loss_of_function,-3.77281379995034,0.507551279135357,0.6995272468661227,Pathogenic,0.1493,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45H,NP_000240:p.Thr45His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.42826,0.48946,-0.413897872461948,Neutral,Neutral,False,0.022,,,1e-05,,,0.0065,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.3393,0.7634,-22.0821,loss_of_function,-4.97819505390722,0.3587457942144948,0.8000161178670799,Pathogenic,0.2439,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45I,NP_000240:p.Thr45Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.28689,0.73469,-0.4311970628396316,Neutral,Neutral,False,0.022,,,0.0,,,0.0021,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.2776,0.7634,-22.0821,loss_of_function,-4.86850848378345,0.3722867076831538,0.9614082989919366,Pathogenic,0.4439,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45K,NP_000240:p.Thr45Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.44085,0.4119,-0.1961438941117205,Neutral,Neutral,False,0.022,,,-0.04585,,,0.01412,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.2509,0.7634,-5.6245,loss_of_function,-2.97760960704139,0.6057200080321082,0.2131573576289314,Benign,0.2079,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45L,NP_000240:p.Thr45Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.34687,0.09558,-0.8191475654704139,Neutral,Neutral,False,0.022,,,1e-05,,,0.00368,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.3296,0.7634,-22.0821,loss_of_function,-4.60302837591859,0.40506048449276605,0.9145922656812142,Pathogenic,0.1902,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45M,NP_000240:p.Thr45Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.16737,0.59898,-0.3142195913600087,Neutral,Neutral,False,0.022,,,-0.0,,,-0.0242,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.2287,0.7634,-8.7943,loss_of_function,-4.86850848378345,0.3722867076831538,0.885329351043674,Pathogenic,0.1688,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45N,NP_000240:p.Thr45Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52551,0.41939,-0.0627736240099741,Neutral,Neutral,False,0.022,,,0.0,,,0.00853,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.13,S,-0.2242,0.7634,-5.7944,loss_of_function,-2.63505918645849,0.6480081896985764,0.0503755651629903,Benign,0.1195,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45P,NP_000240:p.Thr45Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.01666,0.19524,2.429582170844739,Neutral,Uncertain,False,0.022,,,-0.0,,,0.03382,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,-,uncertain,uncertain,neutral,1770312,Uncertain significance,1,95.13,S,-0.4161,0.7634,-22.0821,loss_of_function,-5.23371387027688,0.32720174850159206,0.9559865635594214,Pathogenic,0.4362,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45Q,NP_000240:p.Thr45Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00815,0.17211,-0.0312880122048225,Neutral,Neutral,False,0.022,,,0.0,,,0.00054,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.249,0.7634,-8.7943,loss_of_function,-3.34611714530499,0.5602273950117056,0.5992241798372338,Uncertain,0.217,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45R,NP_000240:p.Thr45Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.50892,-0.3415,-0.5335500207018151,Neutral,Neutral,False,0.022,,,-0.05981,,,0.00407,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,1022025,Uncertain significance,2,95.13,S,-0.2699,0.7634,-8.7943,loss_of_function,-2.96778259025871,0.6069331627853217,0.4063367437126199,Uncertain,0.177,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45S,NP_000240:p.Thr45Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02183,0.23027,0.1876943333750225,Neutral,Neutral,False,0.022,,,0.0,,,0.0014,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,neutral,,,DOWN,neutral,neutral,neutral,230155,Uncertain significance,1,95.13,S,-0.1219,0.7634,-3.75,loss_of_function,-0.444500554547146,0.9184347774682985,0.0017179298241804,Benign,0.0703,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45V,NP_000240:p.Thr45Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6961,0.59048,-0.2919635209673155,Neutral,Neutral,False,0.022,,,0.0,,,0.00471,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.2652,0.7634,-22.0821,loss_of_function,-4.86850848378345,0.3722867076831538,0.9640422770533748,Pathogenic,0.2713,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45W,NP_000240:p.Thr45Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.2743,0.23129,-1.0190979826194797,Neutral,Neutral,False,0.022,,,-0.0,,,-0.03261,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.3519,0.7634,-22.0821,loss_of_function,-5.05111117703017,0.3497442280923723,0.9638667166284792,Pathogenic,0.7976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T45Y,NP_000240:p.Thr45Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17407,0.03129,-0.4210013560805231,Neutral,Neutral,False,0.022,,,0.0,,,0.01869,Neutral,Uncertain,Uncertain,74.1,,False,74.1,,uncertain,,,UP,neutral,neutral,neutral,,,,95.13,S,-0.3604,0.7634,-22.0821,loss_of_function,-5.05111117703017,0.3497442280923723,0.9795548587265632,Pathogenic,0.4515,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46A,NP_000240:p.Ser46Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.10072,-0.09864,0.1107997854979103,Neutral,Neutral,False,0.042,,,0.0,,,0.00414,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,-,uncertain,uncertain,damaging,,,,96.25,E,-0.0009,2.0663,-4.707,loss_of_function,-1.27252301642953,0.8162146014357766,0.0138175352354266,Benign,0.0896,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46C,NP_000240:p.Ser46Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.29254,-0.03197,0.468431278413679,Neutral,Neutral,False,0.042,,,0.0,,,0.00296,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0722,2.0663,-8.7943,loss_of_function,-0.936817406619988,0.8576577845733747,0.2269114099706969,Benign,0.0827,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46D,NP_000240:p.Ser46Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48564,1.13299,0.2944691498895557,Neutral,Neutral,False,0.042,,,0.34743,,,0.22343,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.1204,2.0663,-8.7943,loss_of_function,-1.76592623985363,0.75530349494385,0.0728216101920681,Benign,0.5934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46E,NP_000240:p.Ser46Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.39804,0.11293,0.0650650487020032,Neutral,Neutral,False,0.042,,,0.30451,,,0.20312,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0936,2.0663,-8.7943,loss_of_function,-1.79658783341797,0.7515182914791284,0.5228009952087692,Uncertain,0.8109,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46F,NP_000240:p.Ser46Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.50025,-0.98912,-0.6786404195213275,Neutral,Neutral,False,0.042,,,0.02506,,,-0.02729,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0896,2.0663,-6.7944,loss_of_function,-2.0801860410686,0.716507817677908,0.0971909663262051,Benign,0.234,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46G,NP_000240:p.Ser46Gly,"hg19,3:g.37038129A>G",,3.9769021523e-06,0.694,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.81178,1.19082,1.075418926938173,Neutral,Neutral,False,0.042,,,0.0,,,0.03402,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,DOWN,neutral,neutral,damaging,840987,Uncertain significance,2,96.25,E,-0.0258,2.0663,-7.7944,loss_of_function,-2.72179359257667,0.6373007431381038,0.7300193832160577,Pathogenic,0.0839,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46H,NP_000240:p.Ser46His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.5695,-0.17993,-0.4738583862172629,Neutral,Neutral,False,0.042,,,-0.26409,,,-0.00735,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0867,2.0663,-5.987,loss_of_function,-1.76022791478032,0.756006958701053,0.0394875976711769,Benign,0.3143,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46I,NP_000240:p.Ser46Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.15544,-0.43197,-0.7128786040169821,Neutral,Neutral,False,0.042,,,0.01575,,,-0.02965,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0949,2.0663,-7.2094,loss_of_function,-1.85180557587067,0.7447016076167101,0.1419379706855419,Benign,0.1765,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46K,NP_000240:p.Ser46Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.87674,-0.08776,-0.1105309977060353,Neutral,Neutral,False,0.042,,,-0.25292,,,-0.58693,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.1052,2.0663,-7.7944,loss_of_function,-2.13281623959935,0.7100105686223577,0.1545132958869581,Benign,0.8605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46L,NP_000240:p.Ser46Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.0232,-0.2102,-0.7870132144003078,Neutral,Neutral,False,0.042,,,0.04803,,,-0.00429,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0873,2.0663,-6.4725,loss_of_function,-1.30019432524479,0.8127985515236572,0.0613010301113507,Benign,0.1424,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46M,NP_000240:p.Ser46Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.43018,-0.31973,-0.4087561701490039,Neutral,Neutral,False,0.042,,,0.07698,,,0.11447,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0571,2.0663,-6.2094,loss_of_function,-1.80838398595128,0.7500620450076012,0.1267435791827241,Benign,0.1553,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46N,NP_000240:p.Ser46Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08657,0.18027,-0.0900313097465044,Neutral,Neutral,False,0.042,,,0.00736,,,0.01788,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,819045,Uncertain significance,1,96.25,E,-0.0093,2.0663,-1.9871,loss_of_function,-0.265224678611835,0.9405665582352496,0.0003746638575092,Benign,0.0877,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46P,NP_000240:p.Ser46Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.51321,7.67211,3.9218355421744326,Uncertain,Uncertain,False,0.042,,,0.04964,,,0.09069,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.243,2.0663,-22.0821,loss_of_function,-3.53082448996513,0.5374250941625999,0.8360060333254866,Pathogenic,0.9552,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46Q,NP_000240:p.Ser46Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12565,-0.26463,0.0234333392725982,Neutral,Neutral,False,0.042,,,0.06163,,,-0.16205,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.042,2.0663,-4.5465,loss_of_function,-1.51801622991246,0.7859082261232442,0.0059512665593477,Benign,0.5445,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46R,NP_000240:p.Ser46Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.65291,0.16327,-0.5459802598150015,Neutral,Neutral,False,0.042,,,-0.40474,,,-1.85752,Uncertain,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.1105,2.0663,-7.7944,loss_of_function,-2.20098678913757,0.7015948481620831,0.2162218707916297,Benign,0.8345,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46T,NP_000240:p.Ser46Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.41389,0.02381,-0.0269621560097588,Neutral,Neutral,False,0.042,,,0.00718,,,-0.01133,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,neutral,,,UP,neutral,neutral,damaging,1771259,Uncertain significance,1,96.25,E,0.007,2.0663,-4.9871,gain_of_function,-1.04727843263989,0.8440212637731802,0.0090672958715602,Benign,0.0838,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46V,NP_000240:p.Ser46Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.84438,-0.47313,-0.4891913288361404,Neutral,Neutral,False,0.042,,,0.01097,,,0.0124,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.0721,2.0663,-7.7944,loss_of_function,-2.13889176626573,0.7092605389626359,0.0725461485483084,Benign,0.1565,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46W,NP_000240:p.Ser46Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.23159,-0.64252,-0.9494767899199884,Neutral,Neutral,False,0.042,,,0.09767,,,0.10035,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.1773,2.0663,-22.0821,loss_of_function,-2.70639061750977,0.6392022553497214,0.5248409173607644,Uncertain,0.5499,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S46Y,NP_000240:p.Ser46Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.40286,-1.09184,-0.5219603559250124,Neutral,Neutral,False,0.042,,,0.04908,,,0.04731,Neutral,Uncertain,Uncertain,39.7,,False,39.7,,uncertain,,,UP,neutral,neutral,damaging,,,,96.25,E,-0.1724,2.0663,-22.0821,loss_of_function,-2.1124731786066,0.7125219392329953,0.0890287679357308,Benign,0.2419,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47A,NP_000240:p.Ile47Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.70318,3.65782,3.9691767359506622,Destabilizing,Destabilizing,False,0.079,,,0.0,,,-0.00913,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.352,0.7991,-22.0821,loss_of_function,-4.73732100717261,0.3884819289117384,0.9628852961742498,Pathogenic,0.9534,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47C,NP_000240:p.Ile47Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.51296,2.7415,3.7172365627586976,Uncertain,Destabilizing,False,0.079,,,0.0,,,0.00822,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.332,0.7991,-22.0821,loss_of_function,-4.73732100717261,0.3884819289117384,0.9773395053090786,Pathogenic,0.9419,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47D,NP_000240:p.Ile47Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.08933,4.38673,5.058813804258078,Destabilizing,Destabilizing,False,0.079,,,0.10201,,,-0.33188,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.476,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9766295194944926,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47E,NP_000240:p.Ile47Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.27707,5.2966,4.623616485869244,Destabilizing,Destabilizing,False,0.079,,,0.04658,,,-0.02899,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.4569,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9704885932098216,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47F,NP_000240:p.Ile47Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.91757,3.86497,1.531409574872822,Destabilizing,Uncertain,False,0.079,,,0.00289,,,-0.02069,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.3129,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.976473290849799,Pathogenic,0.8438,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47G,NP_000240:p.Ile47Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.68299,6.35306,6.085829332785044,Destabilizing,Destabilizing,False,0.079,,,-0.00199,,,0.0037,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.4426,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9750755563207422,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47H,NP_000240:p.Ile47His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.09493,4.9568,3.2449849810644564,Destabilizing,Destabilizing,False,0.079,,,0.00084,,,0.00817,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.4426,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.979286168662832,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47K,NP_000240:p.Ile47Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.52195,8.11667,5.464556358333359,Destabilizing,Destabilizing,False,0.079,,,-0.00497,,,-0.00672,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.98,E,-0.4494,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9698406737963056,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47L,NP_000240:p.Ile47Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41213,2.17007,0.7726394542179718,Uncertain,Neutral,False,0.079,,,0.0,,,0.0199,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.98,E,-0.1404,0.7991,-3.122,loss_of_function,-2.15325046244185,0.707487943992949,0.0965823030883204,Benign,0.31,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47M,NP_000240:p.Ile47Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.79644,3.29048,1.6214104841215795,Uncertain,Neutral,False,0.079,,,0.0,,,0.02013,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.98,E,-0.2428,0.7991,-22.0821,loss_of_function,-2.95600562194175,0.6083870409467333,0.941429069960002,Pathogenic,0.4678,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47N,NP_000240:p.Ile47Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.52483,3.5602,3.563897343891532,Destabilizing,Destabilizing,False,0.079,,,0.00019,,,-0.01542,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.3891,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.97030083132897,Pathogenic,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47P,NP_000240:p.Ile47Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.32188,5.15918,6.380628033189632,Destabilizing,Destabilizing,False,0.079,,,0.0,,,0.04903,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.496,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9748352485796006,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47Q,NP_000240:p.Ile47Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.57959,4.28469,3.6823044702886776,Destabilizing,Destabilizing,False,0.079,,,0.0,,,-0.00989,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.4167,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9765347334550356,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47R,NP_000240:p.Ile47Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.90566,7.14456,4.476592560984337,Destabilizing,Destabilizing,False,0.079,,,-0.12226,,,-0.00613,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.4762,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.977713121793107,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47S,NP_000240:p.Ile47Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.84738,4.08129,4.802929840074935,Destabilizing,Destabilizing,False,0.079,,,-0.00212,,,-0.0062,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1772004,Uncertain significance,1,96.98,E,-0.3925,0.7991,-22.0821,loss_of_function,-4.73732100717261,0.3884819289117384,0.9778677081212016,Pathogenic,0.9772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47T,NP_000240:p.Ile47Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.17947,3.14116,3.374339701314917,Destabilizing,Destabilizing,False,0.079,,,-0.00171,,,-0.00514,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.3093,0.7991,-22.0821,loss_of_function,-4.11229636457551,0.4656418272624366,0.938044624726452,Pathogenic,0.9492,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47V,NP_000240:p.Ile47Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99202,0.89728,1.2887214576620822,Neutral,Neutral,False,0.079,,,0.0,,,-0.01371,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,619505,Uncertain significance,2,96.98,E,-0.1064,0.7991,-4.2709,loss_of_function,-0.307132752737111,0.9353929658371267,0.0644628934343109,Benign,0.1002,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47W,NP_000240:p.Ile47Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.09754,5.34898,3.195238814728324,Destabilizing,Destabilizing,False,0.079,,,0.00173,,,0.01161,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.4018,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9664393276670814,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I47Y,NP_000240:p.Ile47Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.00352,4.89524,2.669275109359321,Destabilizing,Uncertain,False,0.079,,,0.00112,,,0.01612,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.4107,0.7991,-22.0821,loss_of_function,-4.90819565012425,0.367387288505121,0.9782344320915324,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48A,NP_000240:p.Gln48Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.67993,0.89218,0.3933860006895723,Neutral,Neutral,False,0.106,,,-0.08736,,,0.24014,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,0.0008,2.4109,-6.7944,gain_of_function,-1.65766204898979,0.7686688143132805,0.2183950982256846,Benign,0.1494,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48C,NP_000240:p.Gln48Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52326,0.8051,0.8643130774004267,Neutral,Neutral,False,0.106,,,-0.11939,,,0.53463,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.1235,2.4109,-22.0821,loss_of_function,-2.21589322210904,0.6997546345537509,0.9387513517353472,Pathogenic,0.5257,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48D,NP_000240:p.Gln48Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53217,1.04524,0.7744609770706512,Neutral,Neutral,False,0.106,,,0.22137,,,0.09246,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.0756,2.4109,-4.7944,loss_of_function,-1.50847938976797,0.7870855582890258,0.2344293694700402,Benign,0.6392,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48E,NP_000240:p.Gln48Glu,"hg19,3:g.37038135C>G, hg38,3:g.36996644C>G",,,0.749,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56109,0.51395,0.3131598287982584,Neutral,Neutral,False,0.106,,,0.29583,,,0.18426,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479672,Uncertain significance,2,96.47,E,0.0162,2.4109,-2.7721,gain_of_function,-1.58088144689678,0.7781474541124812,0.0528206967940158,Benign,0.1896,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48F,NP_000240:p.Gln48Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.80856,0.25918,-0.5420465810861097,Neutral,Neutral,False,0.106,,,-0.72298,,,0.4779,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.1315,2.4109,-22.0821,loss_of_function,-3.45993745233914,0.546176167712078,0.834478050457847,Pathogenic,0.6641,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48G,NP_000240:p.Gln48Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.52133,2.16735,1.6738778075421257,Uncertain,Neutral,False,0.106,,,-0.06973,,,0.43465,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.075,2.4109,-7.7944,loss_of_function,-2.04379682248571,0.7210001020064911,0.6630779402384608,Uncertain,0.2777,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48H,NP_000240:p.Gln48His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.4795,0.2881,-0.1597459846103782,Neutral,Neutral,False,0.106,,,-1.01279,,,0.21894,Uncertain,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,449060,Uncertain significance,2,96.47,E,-0.0105,2.4109,-8.7943,loss_of_function,-1.46789983280421,0.792095143955008,0.5953960088095138,Uncertain,0.1957,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48I,NP_000240:p.Gln48Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.61955,-0.54286,-0.6500199959613723,Neutral,Neutral,False,0.106,,,-0.12118,,,0.11722,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.0267,2.4109,-5.2094,loss_of_function,-1.72141024002916,0.7607990382990101,0.3371655513360588,Uncertain,0.2564,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48K,NP_000240:p.Gln48Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24344,0.7119,0.0964608157802887,Neutral,Neutral,False,0.106,,,-0.27493,,,-0.31788,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.0173,2.4109,-3.8402,loss_of_function,-1.85830029832309,0.7438998278306165,0.5696540606057494,Uncertain,0.378,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48L,NP_000240:p.Gln48Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.77064,-0.68299,-0.7715308467493476,Neutral,Neutral,False,0.106,,,-0.2577,,,0.24067,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.0962,2.4109,-22.0821,loss_of_function,-2.65430278791225,0.6456325484344116,0.5813748721075146,Uncertain,0.1052,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48M,NP_000240:p.Gln48Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.29138,-0.05544,-0.1222970537593193,Neutral,Neutral,False,0.106,,,-0.34953,,,0.45996,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,0.0007,2.4109,-8.7943,gain_of_function,-2.37315539901902,0.6803404662829399,0.7839157160448702,Pathogenic,0.2351,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48N,NP_000240:p.Gln48Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29933,0.67313,0.2204488245984037,Neutral,Neutral,False,0.106,,,-0.41161,,,0.35778,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.0108,2.4109,-5.987,loss_of_function,-1.47890321135327,0.7907367662007616,0.1687706135270189,Benign,0.1868,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48P,NP_000240:p.Gln48Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.77879,1.4466,2.3241421166135003,Uncertain,Uncertain,False,0.106,,,-0.07721,,,0.45196,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,89739,Likely pathogenic,3,96.47,E,-0.2509,2.4109,-22.0821,loss_of_function,-3.89692147627977,0.4922300661183318,0.9585674979568588,Pathogenic,0.7285,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48R,NP_000240:p.Gln48Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.20751,0.59592,-0.3342356450956235,Neutral,Neutral,False,0.106,,,-0.73312,,,-0.8459,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.0156,2.4109,-3.7944,loss_of_function,-1.86560873493398,0.7429975942424245,0.5667449675879946,Uncertain,0.3669,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48S,NP_000240:p.Gln48Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53851,1.11871,0.8932769613813402,Neutral,Neutral,False,0.106,,,-0.10363,,,0.34288,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.009,2.4109,-5.094,loss_of_function,-0.678225524369664,0.8895812032498648,0.0361364678371386,Benign,0.1337,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48T,NP_000240:p.Gln48Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07953,-0.09762,0.1702710911034022,Neutral,Neutral,False,0.106,,,-0.14615,,,0.7605,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.47,E,-0.0169,2.4109,-4.707,loss_of_function,-1.08182790193195,0.8397560982789545,0.0144754194092325,Benign,0.1101,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48V,NP_000240:p.Gln48Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.19897,-0.5949,-0.5519389835847893,Neutral,Neutral,False,0.106,,,-0.17779,,,0.23982,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.47,E,-0.0298,2.4109,-5.7944,loss_of_function,-1.76274991560441,0.7556956152531874,0.4219184821128712,Uncertain,0.1661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48W,NP_000240:p.Gln48Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54556,0.18197,-0.8812310698236947,Neutral,Neutral,False,0.106,,,-0.07005,,,0.51838,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.1309,2.4109,-22.0821,loss_of_function,-3.45993745233914,0.546176167712078,0.9590748725681958,Pathogenic,0.7612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q48Y,NP_000240:p.Gln48Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.20511,0.2483,-0.4476946897833705,Neutral,Neutral,False,0.106,,,-0.08358,,,0.52951,Neutral,Uncertain,Uncertain,54.6,,False,54.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.47,E,-0.1338,2.4109,-22.0821,loss_of_function,-3.45993745233914,0.546176167712078,0.896533906589299,Pathogenic,0.4881,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49A,NP_000240:p.Val49Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.05407,3.72313,3.496373208366791,Destabilizing,Destabilizing,False,0.166,,,2e-05,,,-0.00548,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.2523,1.0643,-22.0821,loss_of_function,-4.2353921559222,0.45044553242797525,0.7507262274765041,Pathogenic,0.7849,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49C,NP_000240:p.Val49Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.15002,2.62041,3.263333339895341,Uncertain,Destabilizing,False,0.166,,,1e-05,,,-0.03232,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.2801,1.0643,-22.0821,loss_of_function,-4.2353921559222,0.45044553242797525,0.8405421098497028,Pathogenic,0.9095,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49D,NP_000240:p.Val49Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.65034,4.76156,5.084844906300791,Destabilizing,Destabilizing,False,0.166,,,0.10774,,,0.03196,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.4188,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9676055514491438,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49E,NP_000240:p.Val49Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.04322,5.56769,4.897061198474105,Destabilizing,Destabilizing,False,0.166,,,0.11169,,,-0.00365,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,89749,Pathogenic,3,97.3,E,-0.3761,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9586336003857456,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49F,NP_000240:p.Val49Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.56101,2.22755,2.9018051167127568,Uncertain,Uncertain,False,0.166,,,0.00262,,,-0.02746,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.3294,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9326647039925846,Pathogenic,0.7404,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49G,NP_000240:p.Val49Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.42181,6.57415,6.169082307121429,Destabilizing,Destabilizing,False,0.166,,,-0.0005,,,-0.00456,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.3781,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9402805379545472,Pathogenic,0.8856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49H,NP_000240:p.Val49His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.97578,3.15068,4.023385472138659,Destabilizing,Destabilizing,False,0.166,,,1e-05,,,-0.08519,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.4218,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9616153734006152,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49I,NP_000240:p.Val49Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.05334,-0.58197,0.1901717891676418,Neutral,Neutral,False,0.166,,,0.0,,,-0.00998,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.0825,1.0643,-1.4457,loss_of_function,-0.554331010791818,0.9048761011184565,0.0017399071213041,Benign,0.078,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49K,NP_000240:p.Val49Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.7023,6.6415,7.393968477266265,Destabilizing,Destabilizing,False,0.166,,,-0.06197,,,-0.09095,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.4151,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9586812424459884,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49L,NP_000240:p.Val49Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.51585,0.77653,0.9843158479902704,Neutral,Neutral,False,0.166,,,1e-05,,,-0.00074,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.1719,1.0643,-6.2094,loss_of_function,-0.464619274083751,0.9159511020280146,0.2656024895599586,Benign,0.3758,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49M,NP_000240:p.Val49Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.29185,1.29694,2.149500093234172,Neutral,Uncertain,False,0.166,,,1e-05,,,0.03013,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,801201,Uncertain significance,2,97.3,E,-0.1941,1.0643,-8.7943,loss_of_function,-1.34205842491536,0.8076303878146195,0.8162472710710016,Pathogenic,0.418,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49N,NP_000240:p.Val49Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.45274,3.32415,3.486680810713509,Destabilizing,Destabilizing,False,0.166,,,1e-05,,,0.01098,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.4067,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9533586699896897,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49P,NP_000240:p.Val49Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.30191,5.00714,6.825672758829644,Destabilizing,Destabilizing,False,0.166,,,0.03249,,,0.03999,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.4566,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9565374333032896,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49Q,NP_000240:p.Val49Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.54852,4.07143,3.700866738751042,Destabilizing,Destabilizing,False,0.166,,,1e-05,,,-0.0171,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.3,E,-0.3868,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9619908143051942,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49R,NP_000240:p.Val49Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.78915,8.70442,6.147784319203011,Destabilizing,Destabilizing,False,0.166,,,-0.12885,,,0.00181,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.4361,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9656325844800148,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49S,NP_000240:p.Val49Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.48749,4.48367,4.614622157840228,Destabilizing,Destabilizing,False,0.166,,,1e-05,,,0.00263,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.3559,1.0643,-22.0821,loss_of_function,-4.2353921559222,0.45044553242797525,0.973082321432366,Pathogenic,0.9506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49T,NP_000240:p.Val49Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.90584,2.38469,2.903853011535985,Uncertain,Uncertain,False,0.166,,,0.0,,,0.01223,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.3,E,-0.2713,1.0643,-22.0821,loss_of_function,-4.2353921559222,0.45044553242797525,0.7776859831726336,Pathogenic,0.879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49W,NP_000240:p.Val49Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.58198,6.64388,5.580776091226567,Destabilizing,Destabilizing,False,0.166,,,2e-05,,,-0.02119,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.37,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.962388793404153,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V49Y,NP_000240:p.Val49Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.98036,6.35544,4.642836510539959,Destabilizing,Destabilizing,False,0.166,,,0.00271,,,-0.00276,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.3,E,-0.3729,1.0643,-22.0821,loss_of_function,-4.48275569883871,0.41990826313280294,0.9487094155804308,Pathogenic,0.9817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50A,NP_000240:p.Ile50Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.41667,2.12993,2.1282618418786123,Uncertain,Uncertain,False,0.232,,,0.62644,,,0.23256,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.1605,2.0879,-7.7944,loss_of_function,-1.53927645473275,0.7832836307485239,0.0042872316621015,Benign,0.1062,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50C,NP_000240:p.Ile50Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.25932,2.36871,2.381627880892354,Uncertain,Uncertain,False,0.232,,,0.33062,,,0.2498,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.1456,2.0879,-8.7943,loss_of_function,-1.86010083789669,0.7436775494738815,0.0537364792705121,Benign,0.4125,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50D,NP_000240:p.Ile50Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.26743,2.53299,2.5591971001519003,Uncertain,Uncertain,False,0.232,,,0.821,,,0.5094,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.3574,2.0879,-22.0821,loss_of_function,-2.78800254879722,0.6291271832754783,0.0370510359417879,Benign,0.7013,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50E,NP_000240:p.Ile50Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.26552,2.35408,1.979007492179345,Uncertain,Uncertain,False,0.232,,,1.33859,,,0.13846,Uncertain,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.3383,2.0879,-22.0821,loss_of_function,-2.44334130874816,0.6716759476523638,0.0539981613318138,Benign,0.6646,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50F,NP_000240:p.Ile50Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.93453,1.04694,0.8942557217120336,Neutral,Neutral,False,0.232,,,0.2699,,,-0.20343,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,630797,Uncertain significance,2,97.0,E,-0.1265,2.0879,-8.7943,loss_of_function,-2.47864682795487,0.6673174470628688,0.0429497411928412,Benign,0.1293,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50G,NP_000240:p.Ile50Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.61409,3.83741,3.4769198793942246,Destabilizing,Destabilizing,False,0.232,,,0.54714,,,0.19501,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.324,2.0879,-22.0821,loss_of_function,-2.99915544333259,0.6030601536442847,0.0303091283804496,Benign,0.254,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50H,NP_000240:p.Ile50His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.7669,1.46565,1.6534919734789302,Uncertain,Uncertain,False,0.232,,,0.21451,,,-0.32826,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.324,2.0879,-22.0821,loss_of_function,-2.49184479464237,0.6656881452743634,0.0464145472628504,Benign,0.4479,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50K,NP_000240:p.Ile50Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.06781,1.92007,1.9086987537119031,Uncertain,Uncertain,False,0.232,,,0.77993,,,-0.15794,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.0,E,-0.3308,2.0879,-22.0821,loss_of_function,-3.13212054506722,0.5866454828700193,0.0512293389394718,Benign,0.6561,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50L,NP_000240:p.Ile50Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.4082,0.18707,0.6374651021910157,Neutral,Neutral,False,0.232,,,-0.07792,,,0.08876,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.0,E,-0.0187,2.0879,-2.509,loss_of_function,-1.11657476391159,0.8354665644659925,0.0001017766661004,Benign,0.0773,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50M,NP_000240:p.Ile50Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3761,0.92177,1.159539624960815,Neutral,Neutral,False,0.232,,,-0.1371,,,0.23397,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2452029,Uncertain significance,1,97.0,E,-0.1242,2.0879,-22.0821,loss_of_function,-1.53165371124603,0.7842246658253887,0.0137321141578323,Benign,0.0634,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50N,NP_000240:p.Ile50Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.18275,2.08299,2.0284824247097064,Uncertain,Uncertain,False,0.232,,,-0.16828,,,0.22717,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.1976,2.0879,-7.7944,loss_of_function,-1.92945378151781,0.7351158613172486,0.0105118200521413,Benign,0.1409,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50P,NP_000240:p.Ile50Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.78209,4.19014,3.9069831449411168,Destabilizing,Destabilizing,False,0.232,,,0.762,,,0.53252,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.3774,2.0879,-22.0821,loss_of_function,-3.69422698282974,0.5172528979315925,0.5197451075582143,Uncertain,0.8619,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50Q,NP_000240:p.Ile50Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.24144,2.04728,1.7771782966319998,Uncertain,Uncertain,False,0.232,,,0.49411,,,0.23217,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.2201,2.0879,-6.7944,loss_of_function,-2.06404005249762,0.718501055627266,0.0057662099158355,Benign,0.3917,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50R,NP_000240:p.Ile50Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.62732,1.12653,1.4207362435553674,Uncertain,Uncertain,False,0.232,,,0.25779,,,-0.64321,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.0,E,-0.3577,2.0879,-22.0821,loss_of_function,-3.03742955602949,0.5983351773091361,0.0792406847886615,Benign,0.5657,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50S,NP_000240:p.Ile50Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.30917,2.83912,2.453392071396554,Uncertain,Uncertain,False,0.232,,,0.51996,,,0.18581,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.0,E,-0.1853,2.0879,-4.707,loss_of_function,-0.498552016493951,0.9117620720655284,0.0004599705502036,Benign,0.1047,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50T,NP_000240:p.Ile50Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.97983,1.65646,1.6272555625383784,Neutral,Neutral,False,0.232,,,0.3641,,,0.36067,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3015850,Uncertain significance,1,97.0,E,-0.0836,2.0879,-1.0802,loss_of_function,-0.315470721967076,0.9343636354485486,9.25016710845776e-07,Benign,0.0661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50V,NP_000240:p.Ile50Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54443,0.36735,0.6985630380728591,Neutral,Neutral,False,0.232,,,0.44258,,,0.14625,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,819365,Conflicting classifications of pathogenicity,1,97.0,E,0.0219,2.0879,-2.3682,gain_of_function,-0.0214232142521988,0.970664085477655,2.801182132764509e-05,Benign,0.055,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50W,NP_000240:p.Ile50Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.52637,1.38027,0.639953123880361,Uncertain,Uncertain,False,0.232,,,0.10756,,,-0.29907,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.0,E,-0.2833,2.0879,-22.0821,loss_of_function,-3.11381922530215,0.5889047985457802,0.0378041306303038,Benign,0.7016,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I50Y,NP_000240:p.Ile50Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.74423,0.96701,1.1093712662492794,Neutral,Neutral,False,0.232,,,0.25449,,,0.53111,Neutral,Uncertain,Uncertain,25.2,,False,25.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.0,E,-0.2921,2.0879,-22.0821,loss_of_function,-2.89098747467391,0.6164135942891608,0.0341359938304519,Benign,0.468,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51A,NP_000240:p.Val51Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.96874,2.57245,2.978995497643332,Uncertain,Uncertain,False,0.18,,,0.0,,,-0.0078,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525629,Uncertain significance,1,96.81,E,-0.1509,1.162,-3.9871,loss_of_function,-1.95923350965037,0.7314395249954166,0.0236655709049193,Benign,0.2745,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51C,NP_000240:p.Val51Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.31818,2.22109,2.7306019929296808,Uncertain,Uncertain,False,0.18,,,0.0,,,-0.05486,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.1982,1.162,-7.7944,loss_of_function,-2.31302531847251,0.6877635830475997,0.4713322859110539,Uncertain,0.6797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51D,NP_000240:p.Val51Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.07549,4.2949,4.158792245059784,Destabilizing,Destabilizing,False,0.18,,,0.08293,,,0.0088,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,918697,Likely pathogenic,2,96.81,E,-0.4099,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9573926229821684,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51E,NP_000240:p.Val51Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.61068,4.28639,3.852598393247143,Destabilizing,Destabilizing,False,0.18,,,0.07196,,,0.04889,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.81,E,-0.3672,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9415640750558556,Pathogenic,0.9698,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51F,NP_000240:p.Val51Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.42576,5.39864,2.418086305319576,Destabilizing,Uncertain,False,0.18,,,0.0,,,-0.02362,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.3204,1.162,-22.0821,loss_of_function,-4.15012448829759,0.4609719086988019,0.770541706946295,Pathogenic,0.6554,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51G,NP_000240:p.Val51Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.94924,5.03707,5.147577979802135,Destabilizing,Destabilizing,False,0.18,,,0.0,,,-0.00445,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.3691,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9548019105742792,Pathogenic,0.5671,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51H,NP_000240:p.Val51His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.99343,5.2585,3.145827142432657,Destabilizing,Destabilizing,False,0.18,,,0.0,,,-0.03305,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.4128,1.162,-22.0821,loss_of_function,-4.59795371332263,0.4056869565122393,0.9551232217036244,Pathogenic,0.9841,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51I,NP_000240:p.Val51Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.89959,-0.15408,0.0083482270262819,Neutral,Neutral,False,0.18,,,0.0,,,-0.00194,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.084,1.162,-3.509,loss_of_function,-0.0772814748558654,0.9637683290282505,0.0301543796103059,Benign,0.0782,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51K,NP_000240:p.Val51Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.15382,7.73605,5.316817776685228,Destabilizing,Destabilizing,False,0.18,,,-0.03903,,,-0.03034,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.4061,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9592160363703248,Pathogenic,0.9873,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51L,NP_000240:p.Val51Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.76993,0.78163,0.4380128386777193,Neutral,Neutral,False,0.18,,,0.0,,,0.07752,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.154,1.162,-4.4725,loss_of_function,-1.31953401838321,0.8104110476478202,0.0180233154486704,Benign,0.2062,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51M,NP_000240:p.Val51Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.90902,2.3068,1.5580947086011694,Uncertain,Neutral,False,0.18,,,0.0,,,-0.00017,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.1852,1.162,-8.7943,loss_of_function,-2.20195721703448,0.7014750478969749,0.7828361559448784,Pathogenic,0.2967,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51N,NP_000240:p.Val51Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.47676,2.71395,2.675887013167991,Uncertain,Uncertain,False,0.18,,,0.0,,,-0.01924,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.3977,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9626363037611522,Pathogenic,0.9091,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51P,NP_000240:p.Val51Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.99655,4.27891,5.78844819963204,Destabilizing,Destabilizing,False,0.18,,,-0.04517,,,-0.03167,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.4476,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.964582070857932,Pathogenic,0.9724,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51Q,NP_000240:p.Val51Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.79739,3.4568,3.008541949950411,Destabilizing,Destabilizing,False,0.18,,,0.0,,,-0.00771,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.81,E,-0.3778,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9528639515471558,Pathogenic,0.9479,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51R,NP_000240:p.Val51Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.42176,8.16871,4.214189979833308,Destabilizing,Destabilizing,False,0.18,,,-0.08227,,,0.00593,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.4271,1.162,-22.0821,loss_of_function,-5.05485237797578,0.34928237320698197,0.9501021833512182,Pathogenic,0.9753,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51S,NP_000240:p.Val51Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.35908,3.57551,3.788062477571,Destabilizing,Destabilizing,False,0.18,,,0.0,,,-0.06587,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.3469,1.162,-22.0821,loss_of_function,-2.93977153667712,0.6103911545183688,0.5498413267460026,Uncertain,0.5097,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51T,NP_000240:p.Val51Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.53644,2.46735,2.173895289462957,Uncertain,Uncertain,False,0.18,,,0.0,,,0.01094,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.81,E,-0.1826,1.162,-6.4725,loss_of_function,-2.56701683144729,0.6564080844201524,0.5479030492317888,Uncertain,0.3574,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51W,NP_000240:p.Val51Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.55636,11.45136,3.9078589470990313,Destabilizing,Destabilizing,False,0.18,,,0.01207,,,0.05233,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.361,1.162,-22.0821,loss_of_function,-4.59795371332263,0.4056869565122393,0.9368182221852526,Pathogenic,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V51Y,NP_000240:p.Val51Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.34023,7.4102,3.65804805057684,Destabilizing,Destabilizing,False,0.18,,,-0.00465,,,-0.01199,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.81,E,-0.3639,1.162,-22.0821,loss_of_function,-4.42703447850846,0.4267871018275364,0.9465103396644654,Pathogenic,0.9685,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52A,NP_000240:p.Lys52Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.96416,0.09252,0.1912478890060592,Neutral,Neutral,False,0.048,,,0.00715,,,-0.00267,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2123,0.4523,-8.7943,loss_of_function,-3.69660977507148,0.5169587399182388,0.8070545827803178,Pathogenic,0.8852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52C,NP_000240:p.Lys52Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14677,0.54762,0.9513269861970792,Neutral,Neutral,False,0.048,,,-0.0019,,,-0.01821,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.3503,0.4523,-22.0821,loss_of_function,-4.69488749713081,0.3937203868833854,0.9877943671878704,Pathogenic,0.897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52D,NP_000240:p.Lys52Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.33445,1.27925,0.8884715985292709,Uncertain,Uncertain,False,0.048,,,0.07926,,,0.05377,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.3891,0.4523,-22.0821,loss_of_function,-4.39213478717471,0.4310955025724952,0.9084348917277768,Pathogenic,0.9648,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52E,NP_000240:p.Lys52Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.85231,0.4034,0.4213494852272298,Neutral,Neutral,False,0.048,,,0.06024,,,0.02675,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1775006,Uncertain significance,1,95.54,E,-0.305,0.4523,-22.0821,loss_of_function,-3.90009558008037,0.49183821992553023,0.6825133337558955,Pathogenic,0.818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52F,NP_000240:p.Lys52Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.77192,-0.03333,-0.1773065199516538,Neutral,Neutral,False,0.048,,,-0.00825,,,-0.00989,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.54,E,-0.3512,0.4523,-22.0821,loss_of_function,-5.5250005605694,0.29124212406103966,0.9390034820402988,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52G,NP_000240:p.Lys52Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.40228,1.65136,1.226799385342665,Uncertain,Uncertain,False,0.048,,,0.00562,,,-0.10643,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2596,0.4523,-6.4725,loss_of_function,-3.70626367855685,0.5157669561694839,0.8130593216947695,Pathogenic,0.8368,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52H,NP_000240:p.Lys52His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10708,0.5085,0.0903274198564146,Neutral,Neutral,False,0.048,,,0.06406,,,-0.07135,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2902,0.4523,-22.0821,loss_of_function,-5.14270087832664,0.33843739063290595,0.8408413259234059,Pathogenic,0.6935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52I,NP_000240:p.Lys52Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.47391,-0.19966,-0.0973505999874313,Neutral,Neutral,False,0.048,,,0.01675,,,0.09402,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.54,E,-0.3184,0.4523,-22.0821,loss_of_function,-4.6452436421989,0.39984896892515326,0.9445206615041416,Pathogenic,0.9627,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52L,NP_000240:p.Lys52Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.43365,-1.11769,-0.4021848762121832,Neutral,Neutral,False,0.048,,,0.0537,,,-0.02096,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.54,E,-0.3171,0.4523,-22.0821,loss_of_function,-4.84830679170133,0.374780626164658,0.9108322356611624,Pathogenic,0.9138,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52M,NP_000240:p.Lys52Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59471,-0.23537,-0.0260710624300658,Neutral,Neutral,False,0.048,,,0.00361,,,-0.03616,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2902,0.4523,-22.0821,loss_of_function,-4.49676887681437,0.41817832272008676,0.9332016441030055,Pathogenic,0.85,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52N,NP_000240:p.Lys52Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.86438,0.11939,0.5129896890469773,Neutral,Neutral,False,0.048,,,0.00402,,,-0.00555,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2983,0.4523,-22.0821,loss_of_function,-3.74665158815571,0.5107810295565806,0.136536219817131,Benign,0.9221,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52P,NP_000240:p.Lys52Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86548,3.26122,3.930364297514068,Destabilizing,Destabilizing,False,0.048,,,-0.00485,,,0.08854,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.4544,0.4523,-22.0821,loss_of_function,-5.94005709228869,0.24000299264986746,0.9865963132287908,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52Q,NP_000240:p.Lys52Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.83512,-0.07857,0.3549083054170232,Neutral,Neutral,False,0.048,,,0.01448,,,0.00017,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2793,0.4523,-22.0821,loss_of_function,-3.45583143225775,0.5466830598736248,0.7164422546495784,Pathogenic,0.4148,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52R,NP_000240:p.Lys52Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49793,0.06701,-0.3069002068790077,Neutral,Neutral,False,0.048,,,0.01709,,,-0.01793,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.54,E,-0.1265,0.4523,-4.9871,loss_of_function,-0.505175622651896,0.9109443814609813,0.1669911768162589,Benign,0.091,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52S,NP_000240:p.Lys52Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.39258,0.54456,0.5739278000513756,Neutral,Neutral,False,0.048,,,0.01127,,,-0.05603,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2081,0.4523,-5.987,loss_of_function,-3.10601399796079,0.5898683614314943,0.6015105258438833,Uncertain,0.8842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52T,NP_000240:p.Lys52Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.44724,-0.30238,0.3163796613158126,Neutral,Neutral,False,0.048,,,-0.01961,,,-0.03033,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.3021,0.4523,-22.0821,loss_of_function,-4.69488749713081,0.3937203868833854,0.901144079086335,Pathogenic,0.8649,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52V,NP_000240:p.Lys52Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.20102,-1.02109,-0.0562062404409013,Neutral,Neutral,False,0.048,,,-0.01203,,,-0.09565,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.2345,0.4523,-8.7943,loss_of_function,-4.26359215596493,0.44696421507103806,0.8361741637932002,Pathogenic,0.9304,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52W,NP_000240:p.Lys52Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46287,0.1051,-0.6519283177985369,Neutral,Neutral,False,0.048,,,-0.01074,,,-0.05892,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.54,E,-0.3602,0.4523,-22.0821,loss_of_function,-5.5250005605694,0.29124212406103966,0.9787555546179036,Pathogenic,0.9613,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K52Y,NP_000240:p.Lys52Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.35852,-0.24286,-0.1264669271750967,Neutral,Neutral,False,0.048,,,-0.00735,,,-0.00316,Neutral,Uncertain,Uncertain,50.4,,False,50.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.54,E,-0.3361,0.4523,-22.0821,loss_of_function,-5.5250005605694,0.29124212406103966,0.9519783068383206,Pathogenic,0.9601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53A,NP_000240:p.Glu53Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.72684,0.22279,0.503599709866114,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.0503,1.953,-4.4725,loss_of_function,-1.73095010873832,0.7596213322539824,0.0003043146904712,Benign,0.281,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53C,NP_000240:p.Glu53Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53358,0.85714,0.8172876410380531,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.2095,1.953,-22.0821,loss_of_function,-3.09705267681034,0.590974645219256,0.1832110679970644,Benign,0.9086,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53D,NP_000240:p.Glu53Asp,"hg19,3:g.37038152G>C, hg38,3:g.36996661G>C",,,0.449,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36904,-0.5085,0.040930367248404,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,927253,Uncertain significance,1,92.68,G,0.0002,1.953,-1.3026,gain_of_function,-0.316291466502723,0.9342623137395688,0.000209748539246,Benign,0.0803,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53F,NP_000240:p.Glu53Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.43826,0.63435,-0.2635166199390026,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1871,1.953,-22.0821,loss_of_function,-3.81044532962741,0.5029056302972588,0.4628429809177303,Uncertain,0.9282,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53G,NP_000240:p.Glu53Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48983,0.59286,1.0021249471271425,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.0849,1.953,-6.2094,loss_of_function,-2.34175491543889,0.6842168864367728,0.0026566951142985,Benign,0.2417,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53H,NP_000240:p.Glu53His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.27305,0.06156,-0.2021910801356397,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1106,1.953,-8.7943,loss_of_function,-3.15876332513615,0.5833564058292221,0.0277324579659296,Benign,0.848,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53I,NP_000240:p.Glu53Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14338,3.94626,-0.073171714068258,Uncertain,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1925,1.953,-22.0821,loss_of_function,-3.78194438918563,0.5064240990383457,0.4409303707692079,Uncertain,0.7939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53K,NP_000240:p.Glu53Lys,"hg19,3:g.37038150G>A",,,0.683,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.26824,0.45578,0.2629679942091567,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,234586,Uncertain significance,2,92.68,G,-0.1622,1.953,-22.0821,loss_of_function,-2.68988473862714,0.6412399221071162,0.0222375940362199,Benign,0.7058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53L,NP_000240:p.Glu53Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.65323,0.40952,-0.601425779335627,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1946,1.953,-22.0821,loss_of_function,-3.78194438918563,0.5064240990383457,0.1023639326993261,Benign,0.7291,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53M,NP_000240:p.Glu53Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.33868,0.61088,-0.233988932941877,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1434,1.953,-22.0821,loss_of_function,-3.78194438918563,0.5064240990383457,0.2550542960627333,Benign,0.7704,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53N,NP_000240:p.Glu53Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.09996,-0.26224,-0.0416282808174567,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.0786,1.953,-4.8875,loss_of_function,-0.698670636180869,0.887057234366708,0.0002829507545252,Benign,0.3229,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53P,NP_000240:p.Glu53Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.53688,5.23776,4.201709930721235,Destabilizing,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.2971,1.953,-22.0821,loss_of_function,-4.22578039184178,0.45163211402631737,0.3636993795942946,Uncertain,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53Q,NP_000240:p.Glu53Gln,"hg19,3:g.37038150G>C",,,0.425,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13574,-0.03095,0.2034299228807795,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.024,1.953,-4.707,loss_of_function,-1.42664952437355,0.7971875345401523,3.844378309165096e-05,Benign,0.3968,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53R,NP_000240:p.Glu53Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38409,0.72891,0.0570255047587181,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.2227,1.953,-22.0821,loss_of_function,-3.19574872396573,0.5787905224709398,0.0587090448214988,Benign,0.8097,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53S,NP_000240:p.Glu53Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35684,0.6381,0.609836124106993,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.0615,1.953,-4.0395,loss_of_function,-1.36272107299944,0.8050795638675842,2.4341649234722e-05,Benign,0.2809,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53T,NP_000240:p.Glu53Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48827,1.50714,0.4874359001210515,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.68,G,-0.1695,1.953,-22.0821,loss_of_function,-3.09705267681034,0.590974645219256,0.0367075247307743,Benign,0.4877,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53V,NP_000240:p.Glu53Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.30881,4.22415,-0.0558874442310342,Uncertain,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.68,G,-0.1534,1.953,-22.0821,loss_of_function,-3.04107971068145,0.5978845621770044,0.0103035605586133,Benign,0.5819,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53W,NP_000240:p.Glu53Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.02665,0.60952,-0.5166285043093005,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.1972,1.953,-22.0821,loss_of_function,-3.81044532962741,0.5029056302972588,0.3644481846684234,Uncertain,0.9768,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E53Y,NP_000240:p.Glu53Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07793,0.34218,-0.1690966509909075,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,62.9,,False,62.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.68,G,-0.188,1.953,-22.0821,loss_of_function,-3.07489168771416,0.5937104408175016,0.0844477067936144,Benign,0.8218,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54A,NP_000240:p.Gly54Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.93134,1.85068,1.6953370767228018,Uncertain,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.3807,0.0232,-22.0821,loss_of_function,-5.01992740121152,0.3535938954628619,0.8852508516480245,Pathogenic,0.7462,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54C,NP_000240:p.Gly54Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.94633,5.63095,2.7223399523962875,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4405,0.0232,-22.0821,loss_of_function,-5.98809012229968,0.23407326850695373,0.9941789068936062,Pathogenic,0.9468,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54D,NP_000240:p.Gly54Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.19828,9.27653,3.758193138937927,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.441,0.0232,-22.0821,loss_of_function,-6.3748455924024,0.18632793060203065,0.960616633091986,Pathogenic,0.9923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54E,NP_000240:p.Gly54Glu,"hg38,3:g.36996663G>A",,,0.920,"COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.16172,10.37177,4.307591028271045,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4403,0.0232,-22.0821,loss_of_function,-6.3748455924024,0.18632793060203065,0.9818564616186805,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54F,NP_000240:p.Gly54Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",37.8427,7.36293,2.5311577430763177,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4786,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.98290524706746,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54H,NP_000240:p.Gly54His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",33.12844,7.7466,3.09863761925504,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4533,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.992062205851996,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54I,NP_000240:p.Gly54Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.01444,16.8483,3.777680458939895,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.5243,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.995324427948189,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54K,NP_000240:p.Gly54Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.395,10.91939,5.039213203590258,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4732,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9947610823165268,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54L,NP_000240:p.Gly54Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.39046,15.25782,2.8960920621830053,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4925,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9950895952641676,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54M,NP_000240:p.Gly54Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.0774,13.13299,3.0851445235795136,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4307,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.994634414594896,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54N,NP_000240:p.Gly54Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.36688,8.28265,2.9182401749309603,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4413,0.0232,-22.0821,loss_of_function,-5.89256764885991,0.24586561050197336,0.9503589805790812,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54P,NP_000240:p.Gly54Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.12818,15.00204,7.184105261626672,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.5384,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.995706207459669,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54Q,NP_000240:p.Gly54Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.7496,13.42483,3.6500575692602486,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4442,0.0232,-22.0821,loss_of_function,-6.3748455924024,0.18632793060203065,0.9947249804138109,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54R,NP_000240:p.Gly54Arg,"hg19,3:g.37038153G>A",,3.9769970491e-06,0.935,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.54526,14.16701,4.239111852429655,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,628871,Uncertain significance,2,90.31,G,-0.4573,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9921533348833336,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54S,NP_000240:p.Gly54Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.63109,4.20714,2.6073617195381296,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.3188,0.0232,-8.7943,loss_of_function,-5.13338018815266,0.3395880388751805,0.9282448345819329,Pathogenic,0.752,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54T,NP_000240:p.Gly54Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.5401,7.9517,2.9477379363733323,Destabilizing,Uncertain,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4635,0.0232,-22.0821,loss_of_function,-5.98809012229968,0.23407326850695373,0.9945068794083686,Pathogenic,0.9717,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54V,NP_000240:p.Gly54Val,"hg19,3:g.37038154G>T",,,0.907,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.50812,14.17891,3.155762138191399,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4675,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9931981566730212,Pathogenic,0.9862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54W,NP_000240:p.Gly54Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",40.39212,9.73503,3.143420082250552,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.4784,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9944350942573223,Pathogenic,0.9913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G54Y,NP_000240:p.Gly54Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",37.22126,7.72823,3.028806051426065,Destabilizing,Destabilizing,False,0.011,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.31,G,-0.479,0.0232,-22.0821,loss_of_function,-7.00561659594944,0.10845863841856859,0.9789188600827514,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55A,NP_000240:p.Gly55Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.04893,2.55442,1.7074973475379318,Uncertain,Uncertain,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.3829,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9726480478527624,Pathogenic,0.9153,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55C,NP_000240:p.Gly55Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.31743,4.12449,2.996979832279425,Destabilizing,Uncertain,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,830267,Uncertain significance,2,93.0,G,-0.4426,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9924988024210823,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55D,NP_000240:p.Gly55Asp,"hg38,3:g.36996666G>A",,,0.893,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.19906,7.22177,5.705776010604891,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455397,Uncertain significance,2,93.0,G,-0.4431,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9731742333020568,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55E,NP_000240:p.Gly55Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.44418,10.53946,7.138966571677043,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4424,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9943787888340768,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55F,NP_000240:p.Gly55Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.27574,13.31633,6.948029492078627,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4807,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.993951419698393,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55H,NP_000240:p.Gly55His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",27.35856,13.25476,7.15783148854688,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4554,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9934349148161676,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55I,NP_000240:p.Gly55Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.37926,14.0619,5.687826313447643,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.5264,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.993532488619707,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55K,NP_000240:p.Gly55Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.85064,15.75306,8.809858100688054,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4754,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9866669498841898,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55L,NP_000240:p.Gly55Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.73856,8.25646,5.27681659469337,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4946,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.976830523966504,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55M,NP_000240:p.Gly55Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.64426,11.45612,5.619819358015912,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4328,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9941180753684806,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55N,NP_000240:p.Gly55Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.37176,6.43912,4.306305410876488,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4434,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9936793113807586,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55P,NP_000240:p.Gly55Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.4609,26.95442,8.400928692584507,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.5405,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9828578639891036,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55Q,NP_000240:p.Gly55Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.40102,9.61395,5.806066110145421,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4463,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9934103076781622,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55R,NP_000240:p.Gly55Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.8774,17.23639,8.175012532947097,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4594,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9921579040693854,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55S,NP_000240:p.Gly55Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.80046,4.3983,2.875904179286497,Destabilizing,Uncertain,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,422798,Uncertain significance,2,93.0,G,-0.3887,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.953765341834987,Pathogenic,0.937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55T,NP_000240:p.Gly55Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.28854,8.61361,3.5869444887778115,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4657,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9938040692506184,Pathogenic,0.992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55V,NP_000240:p.Gly55Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.8541,11.17551,3.949212097336072,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2098273,Uncertain significance,1,93.0,G,-0.4696,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9872185463748906,Pathogenic,0.991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55W,NP_000240:p.Gly55Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",30.2619,21.7381,8.641973711547402,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4805,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9930303362683012,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G55Y,NP_000240:p.Gly55Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.67968,15.82177,7.908099582166961,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.0,G,-0.4811,0.0001,-22.0821,loss_of_function,-7.18523445131959,0.0862846399586949,0.9942836248197728,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56A,NP_000240:p.Leu56Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.03369,2.99116,2.648778578845268,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.2697,0.8265,-7.7944,loss_of_function,-4.14131645777938,0.4620592686093342,0.8421252835757815,Pathogenic,0.6262,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56C,NP_000240:p.Leu56Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.30574,2.80136,2.8010739814865,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.3319,0.8265,-22.0821,loss_of_function,-4.14921742733646,0.46108388625422736,0.7912583832267994,Pathogenic,0.6377,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56D,NP_000240:p.Leu56Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.62992,4.15986,3.298693940635662,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.4642,0.8265,-22.0821,loss_of_function,-4.95691147255069,0.3613732729762679,0.9779436321213646,Pathogenic,0.9812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56E,NP_000240:p.Leu56Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.89885,3.98912,2.948104544708552,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.4322,0.8265,-22.0821,loss_of_function,-4.95691147255069,0.3613732729762679,0.9160173707584588,Pathogenic,0.8546,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56F,NP_000240:p.Leu56Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.61504,3.0415,0.9841664147376274,Uncertain,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,T,-0.2761,0.8265,-22.0821,loss_of_function,-4.24524849227169,0.4492287581458015,0.8991765781072065,Pathogenic,0.3745,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56G,NP_000240:p.Leu56Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.59922,4.4932,3.939420664588487,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.4175,0.8265,-22.0821,loss_of_function,-5.69089738068189,0.2707620007119908,0.9824470267554984,Pathogenic,0.8104,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56H,NP_000240:p.Leu56His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.98019,3.34218,1.9798458369404064,Uncertain,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.385,0.8265,-22.0821,loss_of_function,-4.73735373805015,0.3884778882531598,0.9152807169345668,Pathogenic,0.6915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56I,NP_000240:p.Leu56Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39971,1.14116,0.9403475245973748,Neutral,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.81,T,-0.1277,0.8265,-4.6245,loss_of_function,-2.12585906072269,0.7108694391025681,0.1332957206319776,Benign,0.1439,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56K,NP_000240:p.Leu56Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.09755,3.10612,2.902478012817733,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.81,T,-0.4313,0.8265,-22.0821,loss_of_function,-4.60399391731094,0.4049412874713853,0.7441777343247322,Pathogenic,0.7484,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56M,NP_000240:p.Leu56Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.20535,0.44422,1.0756386523289398,Neutral,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1777646,Uncertain significance,1,91.81,T,-0.1444,0.8265,-3.335,loss_of_function,-0.492689282798278,0.9124858322266249,0.0062241985746283,Benign,0.0903,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56N,NP_000240:p.Leu56Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.58363,2.81871,2.3798430388081924,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.3376,0.8265,-7.7944,loss_of_function,-3.68685333399557,0.5181631820319988,0.7398835281625478,Pathogenic,0.7324,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56P,NP_000240:p.Leu56Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.63598,9.92755,5.555028347094734,Destabilizing,Destabilizing,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.4261,0.8265,-22.0821,loss_of_function,-4.87943622982507,0.3709376668353081,0.9832525154748414,Pathogenic,0.985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56Q,NP_000240:p.Leu56Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.11344,2.71497,2.409614966352207,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.3634,0.8265,-22.0821,loss_of_function,-4.95691147255069,0.3613732729762679,0.8878280683639571,Pathogenic,0.3884,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56R,NP_000240:p.Leu56Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.06115,2.1517,2.068467817602991,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,T,-0.4229,0.8265,-22.0821,loss_of_function,-5.17816749096759,0.33405900290270674,0.8053682903184303,Pathogenic,0.6598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56S,NP_000240:p.Leu56Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.60554,3.86701,3.111479750645098,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.3731,0.8265,-22.0821,loss_of_function,-4.63550005421307,0.40105182431247655,0.7555808023542521,Pathogenic,0.6609,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56T,NP_000240:p.Leu56Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4227,2.45306,2.466460895195407,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,T,-0.3458,0.8265,-22.0821,loss_of_function,-4.21284894400184,0.4532285138045902,0.7015243902422341,Pathogenic,0.4728,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56V,NP_000240:p.Leu56Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.67405,1.74932,1.3188844273139118,Neutral,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2817270,Uncertain significance,1,91.81,T,-0.1801,0.8265,-7.7944,loss_of_function,-2.20094618982273,0.7015998601868779,0.5726137566122427,Uncertain,0.1595,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56W,NP_000240:p.Leu56Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.57733,2.52211,1.0927376316365558,Uncertain,Uncertain,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,T,-0.3753,0.8265,-22.0821,loss_of_function,-4.73735373805015,0.3884778882531598,0.9820574686384758,Pathogenic,0.6777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L56Y,NP_000240:p.Leu56Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.30435,3.40476,1.6198580309141108,Uncertain,Neutral,False,0.034,,,,,,,,,,14.8,,False,14.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,T,-0.3682,0.8265,-22.0821,loss_of_function,-4.29918714361193,0.44256997932182884,0.9614644269179282,Pathogenic,0.7737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57A,NP_000240:p.Lys57Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6955,1.14116,0.1592213850901896,Neutral,Neutral,False,0.068,,,0.00559,,,0.00058,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3034,0.1983,-22.0821,loss_of_function,-5.02624670766212,0.352813770952332,0.920364859244354,Pathogenic,0.9149,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57C,NP_000240:p.Lys57Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.17135,1.88333,0.8806111899023941,Neutral,Neutral,False,0.068,,,-0.03149,,,0.00909,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3736,0.1983,-22.0821,loss_of_function,-5.34468332734786,0.31350246139500604,0.9950111811483175,Pathogenic,0.9288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57D,NP_000240:p.Lys57Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.07724,1.74286,0.4940917557704111,Neutral,Neutral,False,0.068,,,0.0252,,,-0.01186,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3446,0.1983,-8.7943,loss_of_function,-4.58278076908683,0.40756007119464677,0.8532211871781559,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57E,NP_000240:p.Lys57Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.83288,1.45306,0.0360287640188627,Neutral,Neutral,False,0.068,,,-0.0053,,,-0.01129,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3283,0.1983,-22.0821,loss_of_function,-4.27832534885865,0.44514538811833265,0.8789244018960443,Pathogenic,0.9284,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57F,NP_000240:p.Lys57Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39865,1.48844,-0.2151543878647643,Neutral,Neutral,False,0.068,,,0.00652,,,0.00699,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.1,S,-0.3746,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9937477461611836,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57G,NP_000240:p.Lys57Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99724,2.51531,1.018756638670572,Uncertain,Neutral,False,0.068,,,0.01047,,,-0.00059,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.2948,0.1983,-8.7943,loss_of_function,-4.75113445619282,0.38677664523229305,0.9214559840799508,Pathogenic,0.8919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57H,NP_000240:p.Lys57His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.87195,1.45782,-0.0167267135343668,Neutral,Neutral,False,0.068,,,0.00593,,,0.02671,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3135,0.1983,-22.0821,loss_of_function,-5.8619761790487,0.24964215712135687,0.9819528463352484,Pathogenic,0.683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57I,NP_000240:p.Lys57Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49596,0.78571,-0.3003807065127234,Neutral,Neutral,False,0.068,,,-0.00156,,,-0.00212,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.1,S,-0.274,0.1983,-8.7943,loss_of_function,-6.14605227753676,0.2145726872327414,0.9670409491461698,Pathogenic,0.9693,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57L,NP_000240:p.Lys57Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.23771,1.04116,-0.4872123113989429,Neutral,Neutral,False,0.068,,,0.00918,,,0.00691,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.1,S,-0.3405,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9848996057185726,Pathogenic,0.9024,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57M,NP_000240:p.Lys57Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.08285,1.85238,-0.1321059090837351,Neutral,Neutral,False,0.068,,,0.00357,,,-0.01663,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2758272,Uncertain significance,1,94.1,S,-0.3135,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9877060718902276,Pathogenic,0.8899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57N,NP_000240:p.Lys57Asn,"hg19,3:g.37038164G>C, hg38,3:g.36996673G>C",,,0.757,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69339,1.68537,0.4222800685655381,Neutral,Neutral,False,0.068,,,0.01019,,,-0.01769,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1778732,Uncertain significance,1,94.1,S,-0.2539,0.1983,-8.7943,loss_of_function,-5.13914826927279,0.33887596366634,0.9309043615696138,Pathogenic,0.9467,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57P,NP_000240:p.Lys57Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.16594,5.56531,3.148733601168572,Uncertain,Uncertain,False,0.068,,,0.0007,,,0.00227,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.4778,0.1983,-22.0821,loss_of_function,-6.81819871781587,0.1315955572539619,0.9715675350427748,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57Q,NP_000240:p.Lys57Gln,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.231,0.98605,0.2400079178473124,Neutral,Neutral,False,0.068,,,0.00378,,,0.01897,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,234589,Uncertain significance,2,94.1,S,-0.2349,0.1983,-8.7943,loss_of_function,-4.79649481417895,0.3811768650431186,0.8589890140367744,Pathogenic,0.5638,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57R,NP_000240:p.Lys57Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.30773,0.71497,-0.1705873600212054,Neutral,Neutral,False,0.068,,,-0.01211,,,-0.00046,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,233030,Uncertain significance,2,94.1,S,-0.1642,0.1983,-7.7944,loss_of_function,-2.57617997390459,0.6552768855963101,0.6709555313655681,Uncertain,0.1234,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57S,NP_000240:p.Lys57Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.31631,1.65578,0.5897782086767364,Neutral,Neutral,False,0.068,,,0.02298,,,0.01315,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3136,0.1983,-22.0821,loss_of_function,-4.49538185736557,0.418349551616335,0.920379462422938,Pathogenic,0.9207,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57T,NP_000240:p.Lys57Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.18408,1.08741,0.272286048077745,Neutral,Neutral,False,0.068,,,0.00207,,,0.00794,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,127618,Uncertain significance,2,94.1,S,-0.2525,0.1983,-7.7944,loss_of_function,-3.91404550063051,0.490116088703349,0.8613893282402878,Pathogenic,0.8617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57V,NP_000240:p.Lys57Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54675,0.45102,-0.1602292122377185,Neutral,Neutral,False,0.068,,,0.00664,,,0.01273,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.1,S,-0.3257,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9784066816048008,Pathogenic,0.9376,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57W,NP_000240:p.Lys57Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.012,2.5085,-0.728200592769756,Uncertain,Neutral,False,0.068,,,-0.0155,,,0.02421,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.1,S,-0.3836,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9945207274739448,Pathogenic,0.9809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K57Y,NP_000240:p.Lys57Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6071,1.15272,-0.1184400351228637,Neutral,Neutral,False,0.068,,,0.00724,,,-0.01132,Neutral,Uncertain,Uncertain,53.3,,False,53.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.1,S,-0.3594,0.1983,-22.0821,loss_of_function,-6.44089131339569,0.178174522286535,0.9945492329306912,Pathogenic,0.9701,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58A,NP_000240:p.Leu58Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.00071,1.41361,2.3071804127408924,Uncertain,Uncertain,True,0.172,,,-0.07641,,,0.01127,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.3283,0.9832,-22.0886,loss_of_function,-4.1488172326263,0.46113329067935227,0.8354345355760269,Pathogenic,0.3166,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58C,NP_000240:p.Leu58Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.75986,1.25476,2.558229971008682,Neutral,Uncertain,True,0.172,,,-0.00122,,,0.19658,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.3175,0.9832,-22.0886,loss_of_function,-4.1488172326263,0.46113329067935227,0.3814545627100326,Uncertain,0.3231,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58D,NP_000240:p.Leu58Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.18846,2.86803,2.5722978872052606,Uncertain,Uncertain,True,0.172,,,0.0497,,,0.00698,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.4498,0.9832,-22.0886,loss_of_function,-4.56996615679081,0.4091420475117021,0.7408817629343049,Pathogenic,0.9173,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58E,NP_000240:p.Leu58Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.94783,1.22619,2.09165416436532,Uncertain,Uncertain,True,0.172,,,0.05431,,,-0.74113,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.4179,0.9832,-22.0886,loss_of_function,-4.56996615679081,0.4091420475117021,0.6248803191343981,Uncertain,0.7081,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58F,NP_000240:p.Leu58Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.33973,0.11327,0.753123246641639,Neutral,Neutral,True,0.172,,,-0.09755,,,-0.02207,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,853578,Uncertain significance,2,96.29,E,-0.1745,0.9832,-4.9935,loss_of_function,-1.13474796350404,0.8332230653498076,0.0084920745164211,Benign,0.0975,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58G,NP_000240:p.Leu58Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.12645,3.01497,3.089473140644832,Destabilizing,Destabilizing,True,0.172,,,-0.05344,,,0.00729,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.4031,0.9832,-22.0886,loss_of_function,-4.41674981439626,0.4280567535874591,0.6381982609030844,Uncertain,0.5931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58H,NP_000240:p.Leu58His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.23758,1.08129,1.505075737684125,Uncertain,Uncertain,True,0.172,,,0.04978,,,0.07389,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.3028,0.9832,-8.8008,loss_of_function,-3.68428950530449,0.518479689170614,0.7657731046366649,Pathogenic,0.3052,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58I,NP_000240:p.Leu58Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.11965,0.52007,0.956619484214404,Neutral,Neutral,True,0.172,,,-0.02367,,,0.04548,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.29,E,-0.1227,0.9832,-6.4789,loss_of_function,-1.81958535449184,0.7486792251968702,0.1210365815210941,Benign,0.0973,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58K,NP_000240:p.Leu58Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48762,1.07585,1.9756637997038344,Neutral,Neutral,True,0.172,,,0.07986,,,0.21815,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.29,E,-0.4169,0.9832,-22.0886,loss_of_function,-4.31860924196673,0.4401723024421036,0.2822716964124432,Benign,0.6222,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58M,NP_000240:p.Leu58Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.88514,0.9534,1.3095887189802706,Neutral,Neutral,True,0.172,,,-0.04877,,,-0.16728,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.29,E,-0.1336,0.9832,-4.046,loss_of_function,-0.59516665668291,0.8998349010260103,0.0106257907674385,Benign,0.0587,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58N,NP_000240:p.Leu58Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.63181,1.91701,2.177081923604075,Neutral,Uncertain,True,0.172,,,-0.03008,,,0.06599,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.3961,0.9832,-22.0886,loss_of_function,-4.56996615679081,0.4091420475117021,0.689857787384128,Pathogenic,0.4665,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58P,NP_000240:p.Leu58Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.66562,10.09286,5.503929849021003,Destabilizing,Destabilizing,True,0.172,,,-0.04425,,,0.12509,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.4117,0.9832,-22.0886,loss_of_function,-5.31313083789996,0.31739764682064814,0.935870229737748,Pathogenic,0.9834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58Q,NP_000240:p.Leu58Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.07491,0.63503,1.9692028133745407,Uncertain,Uncertain,True,0.172,,,-0.0068,,,-0.21911,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.2761,0.9832,-7.8008,loss_of_function,-3.40708066153675,0.5527013898033382,0.3519894298515116,Uncertain,0.2269,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58R,NP_000240:p.Leu58Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.87449,1.07109,1.6246385770232723,Neutral,Neutral,True,0.172,,,-0.21943,,,-0.04599,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.29,E,-0.4085,0.9832,-22.0886,loss_of_function,-4.14102781935031,0.46209490130335834,0.5352621034767908,Uncertain,0.5088,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58S,NP_000240:p.Leu58Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.06074,1.76667,2.783400209591657,Uncertain,Uncertain,True,0.172,,,-0.06082,,,-0.03627,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2810126,Uncertain significance,1,96.29,E,-0.2909,0.9832,-8.8008,loss_of_function,-3.18702987701734,0.5798668725832773,0.1247126411302314,Benign,0.3111,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58T,NP_000240:p.Leu58Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.29646,1.23265,2.14975283636828,Neutral,Uncertain,True,0.172,,,-5e-05,,,-0.0055,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.3314,0.9832,-22.0886,loss_of_function,-1.63366073010199,0.7716318004092689,0.6005854976401347,Uncertain,0.268,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58V,NP_000240:p.Leu58Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61481,0.58333,1.2341189758563142,Neutral,Neutral,True,0.172,,,0.00526,,,0.16217,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.29,E,-0.159,0.9832,-6.4789,loss_of_function,-0.66227343901001,0.8915505036597143,0.1266915514897178,Benign,0.0938,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58W,NP_000240:p.Leu58Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.13998,0.08163,0.6024002330217476,Uncertain,Uncertain,True,0.172,,,-0.01575,,,0.22592,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.29,E,-0.3609,0.9832,-22.0886,loss_of_function,-3.4671170726555,0.545289836620387,0.6885418577721109,Pathogenic,0.24,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L58Y,NP_000240:p.Leu58Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.02938,0.34864,1.0330258004625892,Uncertain,Uncertain,True,0.172,,,-0.08598,,,0.03889,Neutral,,,10.8,,False,10.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.29,E,-0.2665,0.9832,-4.9935,loss_of_function,-2.34469101233396,0.6838544224273058,0.0246645007223466,Benign,0.2432,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59A,NP_000240:p.Ile59Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.66764,4.14286,3.5453026444512648,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.00207,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3325,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.3474459806757026,Uncertain,0.9289,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59C,NP_000240:p.Ile59Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.68694,3.82177,3.5029213628073217,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.08763,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3125,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5043811883086732,Uncertain,0.9238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59D,NP_000240:p.Ile59Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.7911,5.74932,4.689675491589952,Destabilizing,Destabilizing,True,0.249,,,0.03817,,,0.01907,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4566,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5972839521328699,Uncertain,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59E,NP_000240:p.Ile59Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.0986,4.80782,4.100276950071168,Destabilizing,Destabilizing,True,0.249,,,0.01123,,,-0.00146,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4375,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5661362120730395,Uncertain,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59F,NP_000240:p.Ile59Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.66843,4.0449,2.2553118799565,Destabilizing,Uncertain,True,0.249,,,-0.00365,,,0.05209,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1047299,Uncertain significance,1,97.33,E,-0.2257,1.011,-8.8008,loss_of_function,-3.61653601964899,0.5268439226900494,0.0221850435612335,Benign,0.5074,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59G,NP_000240:p.Ile59Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.37344,6.7881,5.391431489044956,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.01064,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4232,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5074695371406525,Uncertain,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59H,NP_000240:p.Ile59His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.64345,6.49626,3.373430433480522,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.01241,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4231,1.011,-22.0886,loss_of_function,-4.73597868899157,0.38864763939312513,0.5637272324135965,Uncertain,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59K,NP_000240:p.Ile59Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.19875,5.91565,4.840342646086664,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.01825,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.33,E,-0.43,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5365792242956898,Uncertain,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59L,NP_000240:p.Ile59Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.66654,1.4085,0.8099062963910821,Neutral,Neutral,True,0.249,,,0.0,,,0.01874,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.33,E,-0.1078,1.011,-0.553,loss_of_function,-0.538780347999919,0.9067958455229702,7.183593608233936e-07,Benign,0.0834,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59M,NP_000240:p.Ile59Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.81527,1.42721,1.6929663484268338,Neutral,Neutral,True,0.249,,,0.0,,,-0.0043,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,455402,Uncertain significance,2,97.33,E,-0.1437,1.011,-6.4789,loss_of_function,-1.000344747881,0.8498152726784485,0.0002849562025871,Benign,0.1659,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59N,NP_000240:p.Ile59Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.90509,3.50748,3.462002408792696,Destabilizing,Destabilizing,True,0.249,,,0.0,,,-0.27528,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,619506,Uncertain significance,1,97.33,E,-0.3696,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.6289509488968272,Uncertain,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59P,NP_000240:p.Ile59Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.73176,6.50918,7.520400749688829,Destabilizing,Destabilizing,True,0.249,,,0.0,,,-0.10449,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4766,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.6467923229137903,Uncertain,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59Q,NP_000240:p.Ile59Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.3864,3.47143,3.173839605638732,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.00775,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3972,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5211468450097421,Uncertain,0.9907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59R,NP_000240:p.Ile59Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.52773,7.44014,3.8366528874992665,Destabilizing,Destabilizing,True,0.249,,,-0.02074,,,0.00164,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.4568,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.5148326728430277,Uncertain,0.9933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59S,NP_000240:p.Ile59Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.51954,4.60272,4.367910241513091,Destabilizing,Destabilizing,True,0.249,,,0.0,,,0.02912,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3731,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.4569940578994304,Uncertain,0.9707,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59T,NP_000240:p.Ile59Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.34059,3.18231,3.060758004777837,Destabilizing,Destabilizing,True,0.249,,,0.0,,,-0.00313,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.2899,1.011,-22.0886,loss_of_function,-5.15250122072951,0.337227528857752,0.3507378282254753,Uncertain,0.9485,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59V,NP_000240:p.Ile59Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.09499,1.13265,1.1644189764685844,Neutral,Neutral,True,0.249,,,0.0,,,0.00447,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1467484,Uncertain significance,2,97.33,E,-0.11,1.011,-8.8008,loss_of_function,-3.10325431996806,0.5902090463563558,0.0250589052099941,Benign,0.1825,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59W,NP_000240:p.Ile59Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.53124,6.14524,2.984168059365294,Destabilizing,Uncertain,True,0.249,,,1e-05,,,0.01922,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.3824,1.011,-22.0886,loss_of_function,-4.73597868899157,0.38864763939312513,0.5443875676110448,Uncertain,0.9852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I59Y,NP_000240:p.Ile59Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.55137,5.27211,3.134336480174632,Destabilizing,Destabilizing,True,0.249,,,-0.00152,,,0.01193,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.3912,1.011,-22.0886,loss_of_function,-4.73597868899157,0.38864763939312513,0.5864692098892368,Uncertain,0.962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60A,NP_000240:p.Gln60Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14473,1.25476,0.5449932415218414,Neutral,Neutral,True,0.182,,,-0.22846,,,0.00068,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.2785,0.2237,-22.0886,loss_of_function,-5.40979876376205,0.3054638976130992,0.954227539802064,Pathogenic,0.3794,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60C,NP_000240:p.Gln60Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36642,1.26463,1.1711201206113624,Neutral,Neutral,True,0.182,,,-0.16046,,,0.33356,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3247,0.2237,-22.0886,loss_of_function,-5.40979876376205,0.3054638976130992,0.9657240802138392,Pathogenic,0.7379,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60D,NP_000240:p.Gln60Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.12734,1.32653,1.1264894707229562,Neutral,Neutral,True,0.182,,,0.28769,,,0.46398,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3651,0.2237,-22.0886,loss_of_function,-3.85244802132665,0.4977203572678588,0.9876820905084216,Pathogenic,0.9635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60E,NP_000240:p.Gln60Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.45462,1.03776,0.6356131617169111,Neutral,Neutral,True,0.182,,,0.45597,,,0.18862,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.2836,0.2237,-22.0886,loss_of_function,-2.81039158769062,0.6263632347085766,0.8272210550033604,Pathogenic,0.3668,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60F,NP_000240:p.Gln60Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.58364,0.33469,-0.0716445647783808,Neutral,Neutral,True,0.182,,,-0.25339,,,0.43995,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.3328,0.2237,-22.0886,loss_of_function,-5.92687897626888,0.24162984385419298,0.978860752915835,Pathogenic,0.9005,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60G,NP_000240:p.Gln60Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.69657,3.30272,1.8988997097113995,Uncertain,Uncertain,True,0.182,,,-0.20295,,,0.24347,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.2814,0.2237,-8.8008,loss_of_function,-6.37226762860948,0.18664618273267775,0.9836713967154628,Pathogenic,0.6333,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60H,NP_000240:p.Gln60His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.48073,1.32313,0.4068781363360813,Uncertain,Uncertain,True,0.182,,,-0.19526,,,0.27509,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,2710069,Uncertain significance,1,97.12,E,-0.2118,0.2237,-8.8008,loss_of_function,-5.05197462834893,0.3496376341895952,0.7921770938891373,Pathogenic,0.566,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60I,NP_000240:p.Gln60Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.06445,-0.93741,-0.4484138778057833,Uncertain,Uncertain,True,0.182,,,-0.25942,,,0.48477,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.3141,0.2237,-22.0886,loss_of_function,-4.75784156766673,0.3859486458154968,0.9218674568867704,Pathogenic,0.4523,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60K,NP_000240:p.Gln60Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.16972,0.86463,0.364994027645058,Neutral,Neutral,True,0.182,,,-0.11028,,,0.22236,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.2358,0.2237,-7.2159,loss_of_function,-2.86338569507583,0.6198210607519816,0.8061070546133234,Pathogenic,0.5223,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60L,NP_000240:p.Gln60Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.44583,0.06803,-0.3813997597712981,Neutral,Neutral,True,0.182,,,-0.11331,,,-0.09828,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.2195,0.2237,-6.8009,loss_of_function,-2.08072663931575,0.716441080299962,0.4338258134536944,Uncertain,0.2147,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60M,NP_000240:p.Gln60Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.32912,0.15884,0.0999361607834609,Neutral,Neutral,True,0.182,,,-0.34747,,,-0.18816,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.2684,0.2237,-22.0886,loss_of_function,-5.14220172074546,0.33849901212044414,0.953321120226658,Pathogenic,0.3647,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60N,NP_000240:p.Gln60Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.1428,1.11088,0.9041915718589274,Neutral,Neutral,True,0.182,,,-0.11652,,,0.11539,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.2942,0.2237,-22.0886,loss_of_function,-3.85244802132665,0.4977203572678588,0.9856948525806004,Pathogenic,0.661,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60P,NP_000240:p.Gln60Pro,"hg19,3:g.37038172A>C, hg38,3:g.36996681A>C",,,0.918,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.72113,4.69218,3.419717628582532,Destabilizing,Destabilizing,True,0.182,,,-0.22233,,,0.10319,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4522,0.2237,-22.0886,loss_of_function,-6.37226762860948,0.18664618273267775,0.9911121551479614,Pathogenic,0.9823,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60R,NP_000240:p.Gln60Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14624,0.28707,0.0210403165371569,Neutral,Neutral,True,0.182,,,-0.5142,,,-0.16912,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.2424,0.2237,-8.8008,loss_of_function,-3.49134460941897,0.5422989237082344,0.8622266285099899,Pathogenic,0.4849,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60S,NP_000240:p.Gln60Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.07522,1.44898,1.0395392588373935,Neutral,Neutral,True,0.182,,,-0.16008,,,0.26856,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.2969,0.2237,-22.0886,loss_of_function,-4.34615138751353,0.43677219786075333,0.8608997919924752,Pathogenic,0.3706,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60T,NP_000240:p.Gln60Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.47651,0.83027,0.7479079390098003,Neutral,Neutral,True,0.182,,,-0.1603,,,0.14277,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3069,0.2237,-22.0886,loss_of_function,-4.02408528999955,0.4765315699762681,0.7845741841207384,Pathogenic,0.3147,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60V,NP_000240:p.Gln60Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.80362,-0.77721,-0.1573785339181743,Neutral,Neutral,True,0.182,,,-0.15964,,,0.05069,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.12,E,-0.2464,0.2237,-8.8008,loss_of_function,-4.04164799127066,0.47436343746998527,0.8119474411498779,Pathogenic,0.2897,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60W,NP_000240:p.Gln60Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.71343,1.08571,-0.4924086040696679,Uncertain,Uncertain,True,0.182,,,-0.18862,,,-0.72218,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.3322,0.2237,-22.0886,loss_of_function,-5.92687897626888,0.24162984385419298,0.9888970596463464,Pathogenic,0.9477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q60Y,NP_000240:p.Gln60Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.66739,0.65544,0.1146919429206039,Uncertain,Uncertain,True,0.182,,,-0.30154,,,0.27348,Neutral,Uncertain,Uncertain,24.5,,False,24.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.3351,0.2237,-22.0886,loss_of_function,-5.92687897626888,0.24162984385419298,0.9742495802636592,Pathogenic,0.8551,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61A,NP_000240:p.Ile61Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.94174,3.87483,3.141180710990134,Destabilizing,Destabilizing,True,0.209,,,-0.00021,,,-0.00637,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3905,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9631713764513944,Pathogenic,0.953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61C,NP_000240:p.Ile61Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.9249,2.84354,2.9098215088004418,Uncertain,Uncertain,True,0.209,,,0.00015,,,-0.02435,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.3705,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9711672980325188,Pathogenic,0.9622,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61D,NP_000240:p.Ile61Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.13284,4.59456,4.590056088339437,Destabilizing,Destabilizing,True,0.209,,,0.08632,,,-0.02245,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.5145,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.985060772520399,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61E,NP_000240:p.Ile61Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.50064,4.95544,4.111015956708979,Destabilizing,Destabilizing,True,0.209,,,0.05891,,,-0.03219,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4954,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9880683734705203,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61F,NP_000240:p.Ile61Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.67569,2.21497,1.3374154529447777,Uncertain,Uncertain,True,0.209,,,0.00029,,,-0.00909,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1331818,Uncertain significance,1,97.33,E,-0.3515,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9814811389933344,Pathogenic,0.8461,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61G,NP_000240:p.Ile61Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.5172,6.0534,5.395143837467063,Destabilizing,Destabilizing,True,0.209,,,-0.00014,,,0.02213,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4812,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.98946097967202,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61H,NP_000240:p.Ile61His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.57442,4.16395,2.757961698336491,Destabilizing,Uncertain,True,0.209,,,0.00023,,,0.02816,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4811,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9883489118493376,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61K,NP_000240:p.Ile61Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.95218,7.88231,5.425604508427647,Destabilizing,Destabilizing,True,0.209,,,-0.01515,,,0.00836,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.33,E,-0.488,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9895485538717036,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61L,NP_000240:p.Ile61Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01914,0.84116,0.3949326701594347,Neutral,Neutral,True,0.209,,,0.00022,,,-0.02971,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.33,E,-0.2757,0.3807,-22.0886,loss_of_function,-2.57132367482763,0.6558764004275685,0.8874589351971665,Pathogenic,0.4127,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61M,NP_000240:p.Ile61Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37686,1.64558,1.2410639085220958,Neutral,Neutral,True,0.209,,,-3e-05,,,0.00189,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1781113,Uncertain significance,1,97.33,E,-0.2813,0.3807,-22.0886,loss_of_function,-3.18143522478333,0.5805575378279145,0.9651131426524568,Pathogenic,0.4851,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61N,NP_000240:p.Ile61Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.01586,3.58946,3.043889815325492,Destabilizing,Destabilizing,True,0.209,,,-3e-05,,,-0.01794,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1780925,Uncertain significance,1,97.33,E,-0.4276,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.991216078505172,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61P,NP_000240:p.Ile61Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.72459,5.21667,6.853024493443682,Destabilizing,Destabilizing,True,0.209,,,-0.00017,,,0.05019,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.5346,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9864038978740716,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61Q,NP_000240:p.Ile61Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.54543,4.00544,2.902170633601136,Destabilizing,Uncertain,True,0.209,,,-0.00022,,,-0.00834,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.33,E,-0.4552,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9886552201118624,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61R,NP_000240:p.Ile61Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.39841,5.92755,4.219766644974441,Destabilizing,Destabilizing,True,0.209,,,-0.0366,,,0.03603,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.5148,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9857340693030768,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61S,NP_000240:p.Ile61Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.94444,4.32449,4.199609689070639,Destabilizing,Destabilizing,True,0.209,,,-0.00022,,,0.01237,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455407,Uncertain significance,1,97.33,E,-0.4311,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9905405815982448,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61T,NP_000240:p.Ile61Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.84958,2.63571,2.5738027974815982,Uncertain,Uncertain,True,0.209,,,-0.00021,,,-0.01743,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1780927,Uncertain significance,1,97.33,E,-0.3479,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9610335406956886,Pathogenic,0.9553,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61V,NP_000240:p.Ile61Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.44821,0.27075,0.7003816318337353,Neutral,Neutral,True,0.209,,,-0.00019,,,-0.00408,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,405393,Uncertain significance,2,97.33,E,-0.1423,0.3807,-3.7565,loss_of_function,-0.30254568820475,0.935959243402719,0.3087985696261937,Benign,0.1194,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61W,NP_000240:p.Ile61Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.70785,4.04592,3.1936461566175454,Destabilizing,Destabilizing,True,0.209,,,0.0011,,,0.01369,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.4404,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9906452746282352,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I61Y,NP_000240:p.Ile61Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.1083,4.32857,2.728133998817415,Destabilizing,Uncertain,True,0.209,,,0.00086,,,0.05557,Neutral,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.33,E,-0.4492,0.3807,-22.0886,loss_of_function,-5.2825988092894,0.3211668553661583,0.9883475603581404,Pathogenic,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62A,NP_000240:p.Gln62Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.57427,0.76939,0.519294793022631,Neutral,Neutral,False,0.072,,,-0.15629,,,0.61178,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.1077,1.2324,-6.8009,loss_of_function,-1.43390141962129,0.7962922810380817,0.2945302554291774,Benign,0.2007,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62C,NP_000240:p.Gln62Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.11666,1.08571,1.167330365917022,Neutral,Neutral,False,0.072,,,-0.15472,,,0.82592,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.2319,1.2324,-22.0886,loss_of_function,-2.30866679488717,0.6883016470116164,0.7838041612747029,Pathogenic,0.646,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62D,NP_000240:p.Gln62Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.56467,0.7602,0.6889207912991496,Neutral,Neutral,False,0.072,,,0.01951,,,0.95238,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.2723,1.2324,-22.0886,loss_of_function,-2.84472973287953,0.6221241573798515,0.8875103233339824,Pathogenic,0.9296,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62E,NP_000240:p.Gln62Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47892,0.76361,0.3512706048139197,Neutral,Neutral,False,0.072,,,0.29244,,,0.50715,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.1908,1.2324,-22.0886,loss_of_function,-1.88112215781789,0.7410824471406718,0.5209232018818206,Uncertain,0.2937,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62F,NP_000240:p.Gln62Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.69652,0.21701,-0.0054195118255506,Neutral,Neutral,False,0.072,,,-0.09333,,,0.58831,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.2399,1.2324,-22.0886,loss_of_function,-4.23378699570283,0.4506436910139288,0.9262713381028156,Pathogenic,0.8158,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62G,NP_000240:p.Gln62Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.54855,2.02177,1.372910795574839,Uncertain,Neutral,False,0.072,,,-0.1663,,,0.49862,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.2564,1.2324,-22.0886,loss_of_function,-4.56267146993492,0.41004258367930313,0.9426427497065624,Pathogenic,0.4715,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62H,NP_000240:p.Gln62His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.12281,1.01395,0.1256117867909451,Neutral,Neutral,False,0.072,,,-0.15252,,,0.95692,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.1109,1.2324,-7.2159,loss_of_function,-3.22605518643355,0.5750491602845312,0.8334722181518536,Pathogenic,0.4474,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62I,NP_000240:p.Gln62Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.73227,-0.30068,-0.2463629544422929,Neutral,Neutral,False,0.072,,,-0.12388,,,0.78871,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.1454,1.2324,-7.2159,loss_of_function,-2.59632496062532,0.6527899674466691,0.7015362440732685,Pathogenic,0.3262,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62K,NP_000240:p.Gln62Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.64231,0.35952,0.2419184586709577,Neutral,Neutral,False,0.072,,,-0.20847,,,0.33682,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.1511,1.2324,-8.8008,loss_of_function,-3.05146043465554,0.5966030517339611,0.3118235065297787,Benign,0.4581,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62L,NP_000240:p.Gln62Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.35303,-0.2051,-0.344340545637512,Neutral,Neutral,False,0.072,,,-0.1467,,,0.68958,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.1266,1.2324,-6.8009,loss_of_function,-2.71239029613496,0.6384615892042509,0.033109740321287,Benign,0.1604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62M,NP_000240:p.Gln62Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.66465,-0.11599,0.0619650736420529,Neutral,Neutral,False,0.072,,,-0.13651,,,0.72995,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.1756,1.2324,-22.0886,loss_of_function,-2.75632589112603,0.6330376973887185,0.5881616174210009,Uncertain,0.2827,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62N,NP_000240:p.Gln62Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.7776,0.88061,0.6192354862296373,Neutral,Neutral,False,0.072,,,-0.17335,,,0.6374,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.2014,1.2324,-22.0886,loss_of_function,-2.46238707425761,0.6693247294274087,0.787475927654955,Pathogenic,0.494,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62P,NP_000240:p.Gln62Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.81174,1.44864,3.321390856507387,Uncertain,Uncertain,False,0.072,,,-0.21328,,,1.12381,Uncertain,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1466786,Conflicting classifications of pathogenicity,1,96.99,E,-0.3593,1.2324,-22.0886,loss_of_function,-4.56267146993492,0.41004258367930313,0.9517174095782006,Pathogenic,0.9652,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62R,NP_000240:p.Gln62Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.66842,-0.21361,-0.0816706645659981,Neutral,Neutral,False,0.072,,,0.09924,,,0.42715,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1036341,Uncertain significance,2,96.99,E,-0.2174,1.2324,-22.0886,loss_of_function,-3.28903138385533,0.5672746876311221,0.4859362507410718,Uncertain,0.4202,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62S,NP_000240:p.Gln62Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.92099,0.95204,0.712299407383653,Neutral,Neutral,False,0.072,,,-0.16516,,,0.63097,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.1169,1.2324,-4.9935,loss_of_function,-1.24747292575717,0.8193070594257907,0.0522284093979213,Benign,0.2222,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62T,NP_000240:p.Gln62Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.60942,0.51293,0.3590459149783709,Neutral,Neutral,False,0.072,,,-0.0618,,,0.77017,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.99,E,-0.1134,1.2324,-2.358,loss_of_function,-1.74115648515479,0.7583613451860303,0.036374453730403,Benign,0.1523,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62V,NP_000240:p.Gln62Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.82664,-0.20748,-0.0752040249979224,Neutral,Neutral,False,0.072,,,-0.12958,,,0.62585,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.99,E,-0.1455,1.2324,-7.2159,loss_of_function,-2.64994933899116,0.6461699859262048,0.1804662643985525,Benign,0.2203,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62W,NP_000240:p.Gln62Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.38285,-0.20306,-0.445647234484357,Neutral,Neutral,False,0.072,,,-0.05715,,,0.64265,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.2393,1.2324,-22.0886,loss_of_function,-4.23378699570283,0.4506436910139288,0.964449894763829,Pathogenic,0.8863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q62Y,NP_000240:p.Gln62Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.07955,-0.18197,0.0535745257009434,Neutral,Neutral,False,0.072,,,-0.08896,,,0.63431,Neutral,Uncertain,Uncertain,50.9,,False,50.9,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.99,E,-0.2422,1.2324,-22.0886,loss_of_function,-4.23378699570283,0.4506436910139288,0.9260793833403396,Pathogenic,0.7603,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63A,NP_000240:p.Asp63Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.23566,3.01531,0.8953030105344045,Uncertain,Neutral,False,0.012,,,-0.0517,,,-0.00307,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.05,E,-0.3479,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9951476734265556,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63C,NP_000240:p.Asp63Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.2167,2.17551,1.3108162178006002,Uncertain,Neutral,False,0.012,,,-0.0516,,,-0.0047,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.05,E,-0.3894,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.99480829079669,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63E,NP_000240:p.Asp63Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86771,3.05544,1.4227039453996084,Destabilizing,Uncertain,False,0.012,,,-0.02394,,,-0.01748,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89934,Pathogenic,3,97.05,E,-0.2928,0.0001,-22.0886,loss_of_function,-4.34551532286099,0.4368507206590393,0.995379024622056,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63F,NP_000240:p.Asp63Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.45878,4.66735,0.0314066071863849,Destabilizing,Uncertain,False,0.012,,,-0.05153,,,0.00137,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4481,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9941835250793264,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63G,NP_000240:p.Asp63Gly,"hg19,3:g.37038181A>G",,,0.982,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.1314,3.46531,1.7770315756732182,Uncertain,Uncertain,False,0.012,,,-0.04471,,,0.01179,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,422297,Conflicting classifications of pathogenicity,1,97.05,E,-0.3591,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9953197918076464,Pathogenic,0.9905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63H,NP_000240:p.Asp63His,"hg19,3:g.37038180G>C, hg38,3:g.36996689G>C",,,0.992,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.82014,3.14898,0.5347293957604162,Destabilizing,Uncertain,False,0.012,,,-0.05169,,,0.02857,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,957817,Pathogenic/Likely pathogenic,2,97.05,E,-0.3572,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9956142105362576,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63I,NP_000240:p.Asp63Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.63696,3.79898,0.3114273746533658,Uncertain,Neutral,False,0.012,,,-0.05151,,,0.0716,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4403,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9947467121272038,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63K,NP_000240:p.Asp63Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.20524,9.40306,1.2598373594812613,Destabilizing,Uncertain,False,0.012,,,-0.05177,,,-0.09531,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4186,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.994391871051256,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63L,NP_000240:p.Asp63Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.64556,4.12483,0.1170876240159152,Destabilizing,Uncertain,False,0.012,,,-0.04933,,,0.01912,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4339,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9940234344181778,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63M,NP_000240:p.Asp63Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4186,3.38469,0.3209280057772978,Uncertain,Neutral,False,0.012,,,-0.0517,,,0.06239,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.3727,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9952407519204042,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63N,NP_000240:p.Asp63Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69888,2.2432,0.6629708064810099,Uncertain,Neutral,False,0.012,,,-0.05169,,,-0.00585,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,89920,Pathogenic/Likely pathogenic,2,97.05,E,-0.3146,0.0001,-22.0886,loss_of_function,-4.34551532286099,0.4368507206590393,0.9943354318823704,Pathogenic,0.9827,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63P,NP_000240:p.Asp63Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.12377,5.13367,2.552391051846693,Destabilizing,Uncertain,False,0.012,,,-0.06532,,,0.12349,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.05,E,-0.4849,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9937416208418552,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63Q,NP_000240:p.Asp63Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.56505,4.17143,1.1266665527261812,Destabilizing,Uncertain,False,0.012,,,-0.05185,,,0.07759,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.3749,0.0001,-22.0886,loss_of_function,-4.34551532286099,0.4368507206590393,0.9952715591009824,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63R,NP_000240:p.Asp63Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.46489,9.70238,0.5880000100659777,Destabilizing,Uncertain,False,0.012,,,-0.0582,,,0.1043,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4497,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.995418259876206,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63S,NP_000240:p.Asp63Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35435,1.97245,1.117212358660407,Neutral,Neutral,False,0.012,,,-0.05186,,,-0.01404,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.05,E,-0.3543,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9927445555985368,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63T,NP_000240:p.Asp63Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.89709,2.86259,0.9929830690866732,Uncertain,Neutral,False,0.012,,,-0.04926,,,0.02877,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.05,E,-0.3843,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.99535718763723,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63V,NP_000240:p.Asp63Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.13167,3.88707,0.3953021640047827,Uncertain,Uncertain,False,0.012,,,-0.04491,,,0.10397,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1332634,Pathogenic/Likely pathogenic,2,97.05,E,-0.395,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9937196886936266,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63W,NP_000240:p.Asp63Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",19.86278,5.00204,-0.4005051369215906,Destabilizing,Uncertain,False,0.012,,,-0.05131,,,0.04816,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.4285,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9953739967495616,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D63Y,NP_000240:p.Asp63Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.26352,4.3483,0.177174151639059,Destabilizing,Uncertain,False,0.012,,,-0.04927,,,0.06689,Neutral,,,4.5,,False,4.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.05,E,-0.3929,0.0001,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9957680612505826,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64A,NP_000240:p.Asn64Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.34288,1.16293,0.7951867553060238,Neutral,Neutral,False,0.007,,,-0.00056,,,-0.04943,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.31,-,-0.2946,0.3641,-22.0886,loss_of_function,-5.35779744407893,0.31188351096494943,0.942174074471686,Pathogenic,0.8653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64C,NP_000240:p.Asn64Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.28346,1.35612,1.1265913447020883,Neutral,Neutral,False,0.007,,,-0.00099,,,-0.00214,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.31,-,-0.3445,0.3641,-22.0886,loss_of_function,-5.35779744407893,0.31188351096494943,0.9704376377116496,Pathogenic,0.8081,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64D,NP_000240:p.Asn64Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.74432,-0.60782,0.3532884896854654,Neutral,Neutral,False,0.007,,,0.12025,,,-0.01029,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.31,-,-0.2073,0.3641,-4.3415,loss_of_function,-2.10110589556271,0.7139252413500856,0.0388051062681085,Benign,0.1878,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64E,NP_000240:p.Asn64Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.58595,1.35,0.5190584078954754,Neutral,Neutral,False,0.007,,,0.32959,,,0.00873,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.325,0.3641,-22.0886,loss_of_function,-3.54595968895268,0.5355566391676987,0.9715296229056776,Pathogenic,0.9605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64F,NP_000240:p.Asn64Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.39373,0.17959,0.0958549098244021,Neutral,Neutral,False,0.007,,,0.05174,,,-0.00651,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3518,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.975235751197838,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64G,NP_000240:p.Asn64Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.79272,2.03707,1.3249533409672736,Uncertain,Neutral,False,0.007,,,-0.00103,,,0.00392,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.31,-,-0.3254,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9743032346142032,Pathogenic,0.809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64H,NP_000240:p.Asn64His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03197,0.0,0.1817721928615795,Neutral,Neutral,False,0.007,,,-0.03412,,,0.06446,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.2996,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9753269335559624,Pathogenic,0.694,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64I,NP_000240:p.Asn64Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.94544,0.85816,0.2314704445128956,Neutral,Neutral,False,0.007,,,-0.00359,,,0.00784,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3449,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9647585085377752,Pathogenic,0.9574,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64K,NP_000240:p.Asn64Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.07305,1.12857,0.6755217952652267,Neutral,Neutral,False,0.007,,,-0.10756,,,-0.03966,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.2978,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9752231523427696,Pathogenic,0.9746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64L,NP_000240:p.Asn64Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.09878,0.61701,0.0211960398543509,Neutral,Neutral,False,0.007,,,0.03387,,,0.00093,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3513,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9698445815226092,Pathogenic,0.9455,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64M,NP_000240:p.Asn64Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.91588,1.29626,0.3642954051383812,Neutral,Neutral,False,0.007,,,0.01684,,,-0.00651,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3055,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9778435735088772,Pathogenic,0.9461,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64P,NP_000240:p.Asn64Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.33923,2.90204,3.548804882225717,Uncertain,Destabilizing,False,0.007,,,0.00068,,,0.00948,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.31,-,-0.4602,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9757834929777408,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64Q,NP_000240:p.Asn64Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.39258,1.03299,0.5168307481135844,Neutral,Neutral,False,0.007,,,0.02069,,,-0.00227,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.2886,0.3641,-22.0886,loss_of_function,-3.54595968895268,0.5355566391676987,0.9758254559088236,Pathogenic,0.9448,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64R,NP_000240:p.Asn64Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.17009,1.03946,0.2584668161755876,Neutral,Neutral,False,0.007,,,-0.1569,,,0.0045,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.33,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.97343655592381,Pathogenic,0.9611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64S,NP_000240:p.Asn64Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.06561,0.71633,0.774345071940738,Uncertain,Uncertain,False,0.007,,,-0.00334,,,-0.00631,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,89947,Conflicting classifications of pathogenicity,1,96.31,-,-0.1886,0.3641,-7.2159,loss_of_function,-4.58859670328266,0.40684208847719766,0.8524259710208912,Pathogenic,0.1701,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64T,NP_000240:p.Asn64Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.10628,0.11803,0.6179213945781816,Uncertain,Uncertain,False,0.007,,,-0.00376,,,0.01778,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.31,-,-0.2463,0.3641,-8.8008,loss_of_function,-4.70268009591265,0.3927583830055924,0.7615601508524961,Pathogenic,0.5087,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64V,NP_000240:p.Asn64Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.81323,0.40816,0.251172779981354,Neutral,Neutral,False,0.007,,,-0.00322,,,0.00343,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3383,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9702726136400284,Pathogenic,0.9329,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64W,NP_000240:p.Asn64Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.51154,0.81701,-0.1982992956247525,Neutral,Neutral,False,0.007,,,0.09216,,,-0.03721,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.31,-,-0.3569,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9740536149729552,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N64Y,NP_000240:p.Asn64Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48729,0.25238,0.07715653098261,Neutral,Neutral,False,0.007,,,-0.00411,,,-0.29617,Neutral,Uncertain,Uncertain,46.3,,False,46.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,479674,Uncertain significance,2,96.31,-,-0.3353,0.3641,-22.0886,loss_of_function,-5.88765655431905,0.24647188988639712,0.9749440097374564,Pathogenic,0.9048,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65A,NP_000240:p.Gly65Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.00053,1.72177,1.9360341288470464,Uncertain,Uncertain,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.3808,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9674218475625204,Pathogenic,0.9755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65C,NP_000240:p.Gly65Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.28827,1.81224,3.6422024814569753,Uncertain,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1783039,Likely pathogenic,1,94.87,S,-0.4405,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9952236726234538,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65D,NP_000240:p.Gly65Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.48264,4.47925,5.405936531117114,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,89955,Likely pathogenic,3,94.87,S,-0.3732,0.0231,-8.8008,loss_of_function,-7.21601675063518,0.08248453525190691,0.99393710620997,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65E,NP_000240:p.Gly65Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",17.63852,7.5568,5.546268094345073,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4404,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9937800041623912,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65F,NP_000240:p.Gly65Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",30.99658,17.75986,3.8477951036656486,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4786,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9948893438215936,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65H,NP_000240:p.Gly65His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",25.37438,13.99694,4.512512968738803,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4533,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9948123191099998,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65I,NP_000240:p.Gly65Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.13132,7.16054,5.837897862621353,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.5243,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9945306217910804,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65K,NP_000240:p.Gly65Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.82132,15.08605,5.267599092027215,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4733,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9926421110088056,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65L,NP_000240:p.Gly65Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",14.63424,6.87279,4.785651316615267,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4925,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9935830011386192,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65M,NP_000240:p.Gly65Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.06766,9.1551,4.283364748020897,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4307,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9944211781998512,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65N,NP_000240:p.Gly65Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.37598,3.54422,3.83580099194216,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4414,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9941650294436326,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65P,NP_000240:p.Gly65Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.51042,3.04218,10.006280579820576,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.5384,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9940925883551676,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65Q,NP_000240:p.Gly65Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.63956,12.56463,4.893913648164134,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4443,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.994219711993916,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65R,NP_000240:p.Gly65Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",26.2339,12.48912,4.287614096305879,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1504680,Likely pathogenic,1,94.87,S,-0.4573,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9936934656177276,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65S,NP_000240:p.Gly65Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.88395,1.32041,3.161236362151936,Uncertain,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1006220,Likely pathogenic,1,94.87,S,-0.3867,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9951447652762736,Pathogenic,0.9727,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65T,NP_000240:p.Gly65Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.11343,2.22551,4.296732990621186,Uncertain,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4636,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.99443338158863,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65V,NP_000240:p.Gly65Val,"hg19,3:g.37038187G>T, hg38,3:g.36996696G>T",,,0.986,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.74053,3.07823,4.978622325094526,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,218021,Uncertain significance,1,94.87,S,-0.4676,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9944434644852372,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65W,NP_000240:p.Gly65Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",45.8577,13.39286,4.162899910167341,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.4784,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9954476840093512,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G65Y,NP_000240:p.Gly65Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",35.06432,23.51054,4.22277205902277,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,2.7,,False,2.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.87,S,-0.479,0.0231,-22.0886,loss_of_function,-7.21601675063518,0.08248453525190691,0.9944539045983074,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66A,NP_000240:p.Thr66Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.70018,-0.17585,0.3187596633414963,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,DOWN,neutral,neutral,damaging,234208,Uncertain significance,2,94.93,S,-0.0552,2.1628,-8.8008,loss_of_function,-2.0220797755249,0.7236810925175382,0.5776060669522738,Uncertain,0.0812,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66C,NP_000240:p.Thr66Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.23763,0.21735,0.8103115415972125,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,DOWN,neutral,neutral,damaging,,,,94.93,S,-0.0567,2.1628,-2.073,loss_of_function,-0.234355456957034,0.9443773935891207,0.0020379329203032,Benign,0.0956,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66D,NP_000240:p.Thr66Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.02059,-0.04014,0.3693857641602671,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,-,uncertain,uncertain,damaging,,,,94.93,S,-0.1708,2.1628,-8.8008,loss_of_function,-2.5150783591853,0.6628199391969073,0.5191782202503442,Uncertain,0.4444,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66E,NP_000240:p.Thr66Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.52334,-0.98197,0.1175925998394122,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.2139,2.1628,-22.0886,loss_of_function,-2.82202606029234,0.6249269477814203,0.480678708725595,Uncertain,0.4091,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66F,NP_000240:p.Thr66Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.7378,-0.85544,-0.3897631222964326,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.2303,2.1628,-22.0886,loss_of_function,-2.57273137074746,0.6557026190009171,0.6725199216530995,Uncertain,0.247,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66G,NP_000240:p.Thr66Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09292,0.77177,0.8542418822309658,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,DOWN,neutral,neutral,damaging,,,,94.93,S,-0.1236,2.1628,-7.8008,loss_of_function,-2.67958903730852,0.6425109364208766,0.3169314578666607,Benign,0.1549,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66H,NP_000240:p.Thr66His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.49263,0.02007,-0.2004113163191484,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.1113,2.1628,-2.631,loss_of_function,-1.07026397988701,0.8411836756714481,0.0027012730392399,Benign,0.145,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66I,NP_000240:p.Thr66Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.88701,-0.30578,-0.3802705125970818,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.0811,2.1628,-8.8008,loss_of_function,-1.44686880481331,0.7946914447588382,0.2667881067454856,Benign,0.2815,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66K,NP_000240:p.Thr66Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.03331,0.00748,-0.000593469266702,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.1332,2.1628,-7.8008,loss_of_function,-2.18682769170667,0.7033428024730783,0.1396053057087715,Benign,0.2505,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66L,NP_000240:p.Thr66Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.99942,-0.70068,-0.5880093871193043,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.2009,2.1628,-22.0886,loss_of_function,-3.03188402228086,0.5990197788291125,0.608986761799268,Uncertain,0.1527,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66M,NP_000240:p.Thr66Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.79445,-0.31497,-0.2358507102780543,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.1678,2.1628,-22.0886,loss_of_function,-3.40344706285411,0.5531499610849996,0.706477607611752,Pathogenic,0.0988,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66N,NP_000240:p.Thr66Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.33042,-0.02823,0.1470360978289764,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,-,uncertain,uncertain,damaging,,,,94.93,S,-0.1108,2.1628,-8.8008,loss_of_function,-2.92297034302061,0.6124652781710298,0.405401962707027,Uncertain,0.1369,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66P,NP_000240:p.Thr66Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.0028,2.6,3.754749630151455,Uncertain,Uncertain,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,-,uncertain,uncertain,damaging,,,,94.93,S,-0.2873,2.1628,-22.0886,loss_of_function,-3.98572906932454,0.48126668262095224,0.8958887970324159,Pathogenic,0.5272,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66Q,NP_000240:p.Thr66Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.65482,-0.15102,0.1715885303899206,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.1203,2.1628,-8.8008,loss_of_function,-2.49984970714294,0.6646999310620666,0.2909202339142385,Benign,0.2501,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66R,NP_000240:p.Thr66Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.89348,0.27381,-0.3949703455076764,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.128,2.1628,-6.2159,loss_of_function,-2.00848025143278,0.7253599669571213,0.223637103551345,Benign,0.194,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66S,NP_000240:p.Thr66Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40514,-0.07925,0.3599666631282977,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,neutral,,,DOWN,neutral,neutral,damaging,1952595,Uncertain significance,1,94.93,S,0.0122,2.1628,-2.6924,gain_of_function,-0.304555014035044,0.9357111901800897,0.0017888661746175,Benign,0.0912,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66V,NP_000240:p.Thr66Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48538,-0.47347,-0.2079178902932926,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.0606,2.1628,-7.2159,loss_of_function,-2.1462379765973,0.7083536421719886,0.0422965229052665,Benign,0.1805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66W,NP_000240:p.Thr66Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.46969,-0.79218,-0.8207050333471894,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.2232,2.1628,-22.0886,loss_of_function,-2.57273137074746,0.6557026190009171,0.7847964395739437,Pathogenic,0.5767,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T66Y,NP_000240:p.Thr66Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.69061,-0.19422,-0.3355758245775792,Neutral,Neutral,False,0.009,,,,,,,Uncertain,Uncertain,Uncertain,74.0,,False,74.0,,uncertain,,,UP,neutral,neutral,damaging,,,,94.93,S,-0.2317,2.1628,-22.0886,loss_of_function,-2.01565100888309,0.7244747299948403,0.5474622188624573,Uncertain,0.3038,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67A,NP_000240:p.Gly67Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.17363,3.11871,2.131474530488918,Destabilizing,Uncertain,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.3829,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.995105457378234,Pathogenic,0.9454,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67C,NP_000240:p.Gly67Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.9532,9.18095,3.4705599329661387,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4426,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9941367480741236,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67D,NP_000240:p.Gly67Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.259,9.71463,4.123917477971599,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4432,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9950265171330348,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67E,NP_000240:p.Gly67Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.57114,14.28197,5.010687088037722,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,17106,Pathogenic,3,94.23,-,-0.4425,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9943832187908204,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67F,NP_000240:p.Gly67Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",46.80488,26.67347,4.393277871279101,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4807,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9940091118889708,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67H,NP_000240:p.Gly67His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",43.05352,23.17381,4.509660402072487,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4555,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9949902531792948,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67I,NP_000240:p.Gly67Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",26.58776,12.49422,6.364121767675441,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.5264,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9944415648964776,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67K,NP_000240:p.Gly67Lys,"hg19,3:g.37038192_37038193delinsAA, hg38,3:g.36996701_36996702delinsAA",,,,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",31.74254,23.90442,5.034303085386302,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4754,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9956337389275258,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67L,NP_000240:p.Gly67Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",28.322,17.62109,4.745710205973685,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4946,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9949646592216153,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67M,NP_000240:p.Gly67Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",23.89418,17.81599,4.668632406198574,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4329,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9955253760733,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67N,NP_000240:p.Gly67Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.08736,8.7068,3.437733833906912,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4435,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.995600320941655,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67P,NP_000240:p.Gly67Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.99836,24.91122,7.953870606237952,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.5406,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9951568698278316,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67Q,NP_000240:p.Gly67Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",26.0337,11.10612,4.78377879790004,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4464,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.995099741282212,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67R,NP_000240:p.Gly67Arg,"hg19,3:g.37038192G>A, hg38,3:g.36996701G>A",,,0.988,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",33.08044,22.8619,4.924050369136783,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"495763, 89992","Pathogenic, Pathogenic","2, 3",94.23,-,-0.4594,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9939309891991988,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67S,NP_000240:p.Gly67Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.3281,3.77755,3.3309053864683285,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.3888,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9960360841246348,Pathogenic,0.9618,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67T,NP_000240:p.Gly67Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",19.52932,10.42517,4.76302073299231,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4657,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9946810098709642,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67V,NP_000240:p.Gly67Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.25712,11.2068,5.316372591943437,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,800484,Conflicting classifications of pathogenicity,1,94.23,-,-0.4697,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.9938900912512438,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67W,NP_000240:p.Gly67Trp,"hg19,3:g.37038192G>T, hg38,3:g.36996701G>T",,,0.986,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",54.44958,32.92177,4.841100773050379,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,17088,Pathogenic,3,94.23,-,-0.4805,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.99473585970529,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G67Y,NP_000240:p.Gly67Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",51.02412,28.86497,4.6203993809002215,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,2.1,,False,2.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.23,-,-0.4811,0.0001,-22.0886,loss_of_function,-7.09297212275318,0.09767451390702804,0.995859083153084,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68A,NP_000240:p.Ile68Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.72907,3.25918,2.2859219440007563,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.4234,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.990127101278032,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68C,NP_000240:p.Ile68Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.1515,3.12483,2.3241885523244137,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.4034,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9909071252297468,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68D,NP_000240:p.Ile68Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.55437,6.0102,2.88261510476182,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.5475,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9917716722289648,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68E,NP_000240:p.Ile68Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.14305,4.20986,2.2000257489720507,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.5284,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.991185084449342,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68F,NP_000240:p.Ile68Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.95558,6.86088,0.6781449172658527,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,95.31,-,-0.3844,0.0231,-22.0886,loss_of_function,-5.75644617990239,0.2626699378713191,0.9101279093545078,Pathogenic,0.9565,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68G,NP_000240:p.Ile68Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.98425,5.08061,3.869827044827733,Destabilizing,Destabilizing,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.5141,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9911395031364972,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68H,NP_000240:p.Ile68His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.16455,6.04014,1.645858745234004,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.514,0.0231,-22.0886,loss_of_function,-6.50166761163159,0.1706716293213425,0.9899641861652098,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68K,NP_000240:p.Ile68Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.34944,5.36803,2.3357765776111097,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,95.31,-,-0.5209,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9894170784064168,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68L,NP_000240:p.Ile68Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.57033,0.86735,0.4896483443601707,Neutral,Neutral,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,95.31,-,-0.3086,0.0231,-22.0886,loss_of_function,-4.05677357624263,0.4724961693346322,0.9546827878327836,Pathogenic,0.7703,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68M,NP_000240:p.Ile68Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.155,2.12789,1.0991981476237846,Uncertain,Neutral,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,486852,Uncertain significance,2,95.31,-,-0.3143,0.0231,-22.0886,loss_of_function,-3.24041382966956,0.5732765718503523,0.8089460657469714,Pathogenic,0.7187,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68N,NP_000240:p.Ile68Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.44145,3.70986,2.1341660693571054,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,90008,Likely pathogenic,3,95.31,-,-0.4605,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9914187753668212,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68P,NP_000240:p.Ile68Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.14203,3.91293,5.007492195118976,Destabilizing,Destabilizing,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.5675,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9908085608253724,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68Q,NP_000240:p.Ile68Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.63128,2.78231,1.931653616399432,Uncertain,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.4881,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.992120704020219,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68R,NP_000240:p.Ile68Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.96243,4.49354,1.6115435497322612,Uncertain,Neutral,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,95.31,-,-0.5477,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9920375608158284,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68S,NP_000240:p.Ile68Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.40959,4.14286,2.897324019762228,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,820585,Likely pathogenic,1,95.31,-,-0.464,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.9929676262447492,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68T,NP_000240:p.Ile68Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.51205,2.9517,1.8443756368083533,Uncertain,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,95.31,-,-0.3808,0.0231,-22.0886,loss_of_function,-6.73617316575864,0.1417216912134122,0.990974952122314,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68V,NP_000240:p.Ile68Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.59023,0.96497,0.564896351256105,Neutral,Neutral,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,820555,Uncertain significance,1,95.31,-,-0.2009,0.0231,-8.8008,loss_of_function,-0.698743144844918,0.8870482831018037,0.5195214044065236,Uncertain,0.2579,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68W,NP_000240:p.Ile68Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.35058,7.49048,0.6252975607519742,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,95.31,-,-0.4733,0.0231,-22.0886,loss_of_function,-6.50166761163159,0.1706716293213425,0.9926434343650222,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I68Y,NP_000240:p.Ile68Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.6143,7.68367,0.9378375337781094,Destabilizing,Uncertain,False,0.04,,,,,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,95.31,-,-0.4821,0.0231,-22.0886,loss_of_function,-6.50166761163159,0.1706716293213425,0.992902729939199,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69A,NP_000240:p.Arg69Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00216,1.10748,1.4313810481910745,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1703,1.7473,-6.8073,loss_of_function,-2.11650238702408,0.7120245295458593,0.6275966715339634,Uncertain,0.7509,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69C,NP_000240:p.Arg69Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56179,1.58333,1.8904224166369008,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.2572,1.7473,-22.0951,loss_of_function,-2.60284938924903,0.6519845204049172,0.703028082801495,Pathogenic,0.231,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69D,NP_000240:p.Arg69Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56641,0.7898,1.402725131525726,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.2463,1.7473,-3.8532,loss_of_function,-1.7342803202406,0.7592102144139968,0.4189010806438253,Uncertain,0.8854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69E,NP_000240:p.Arg69Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.03435,1.52483,1.454408580014756,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.198,1.7473,-5.1069,loss_of_function,-1.11605467681784,0.8355307697221573,0.5685694118888583,Uncertain,0.6596,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69F,NP_000240:p.Arg69Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0919,1.26429,0.7849416585111951,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.52,-,-0.2805,1.7473,-22.0951,loss_of_function,-3.01404907712507,0.601221520107013,0.9113811268058838,Pathogenic,0.8614,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69G,NP_000240:p.Arg69Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.16392,1.96701,1.8048301855112296,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.2837,1.7473,-22.0951,loss_of_function,-2.78598548033876,0.6293761923330644,0.7149858265159552,Pathogenic,0.6417,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69H,NP_000240:p.Arg69His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13598,0.85136,0.8031657072788384,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1334,1.7473,-5.4854,loss_of_function,-1.86740600194856,0.7427757198862747,0.1272199830386511,Benign,0.2186,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69I,NP_000240:p.Arg69Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.09062,2.25068,1.3340577733918026,Uncertain,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.2778,1.7473,-22.0951,loss_of_function,-3.44793754138222,0.5476575683586286,0.8983434860903443,Pathogenic,0.7304,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69K,NP_000240:p.Arg69Lys,"hg38,3:g.36996708G>A",,,0.724,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.03499,0.57109,0.8810937734152327,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,489896,Uncertain significance,2,94.52,-,-0.0504,1.7473,-4.8074,loss_of_function,-1.00047609870439,0.8497990572919016,0.0257390283929129,Benign,0.2714,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69L,NP_000240:p.Arg69Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00222,1.69286,0.6332216414282288,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1779,1.7473,-7.8073,loss_of_function,-2.53172486992557,0.6607649113002856,0.5104499897904218,Uncertain,0.5303,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69M,NP_000240:p.Arg69Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0324,1.56054,1.0071568453735735,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1785358,Uncertain significance,1,94.52,-,-0.1489,1.7473,-8.8072,loss_of_function,-2.54752795096631,0.6588140056181278,0.7661396055297658,Pathogenic,0.6938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69N,NP_000240:p.Arg69Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02414,1.06429,0.988382751814309,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1707,1.7473,-3.9494,loss_of_function,-1.43275352083599,0.7964339902564936,0.0643788888797591,Benign,0.8181,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69P,NP_000240:p.Arg69Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.33909,1.83571,3.481204612979312,Neutral,Uncertain,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.3226,1.7473,-8.8072,loss_of_function,-3.07547895372793,0.5936379422585024,0.6825874898525888,Pathogenic,0.9538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69Q,NP_000240:p.Arg69Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.1433,0.90816,1.211970708989756,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1344,1.7473,-4.7199,loss_of_function,-1.25056244067012,0.8189256558132137,0.1794094701329975,Benign,0.1699,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69S,NP_000240:p.Arg69Ser,"hg19,3:g.37038200G>T, hg38,3:g.36996709G>T",,,0.716,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12656,0.78878,1.6289942479480617,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1668,1.7473,-6.0,loss_of_function,-2.03654381373872,0.7218954929711242,0.3751002230325141,Uncertain,0.7922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69T,NP_000240:p.Arg69Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61912,0.93537,1.5216199957696932,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525612,Uncertain significance,2,94.52,-,-0.2533,1.7473,-22.0951,loss_of_function,-2.73039192399832,0.6362392707844324,0.706559730433435,Pathogenic,0.7715,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69V,NP_000240:p.Arg69Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.44889,2.04218,1.428639360015912,Uncertain,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.52,-,-0.1971,1.7473,-8.8072,loss_of_function,-2.92968183597686,0.611636737855989,0.6708923913409164,Uncertain,0.7422,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69W,NP_000240:p.Arg69Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14114,0.38435,0.536652037499454,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.52,-,-0.2661,1.7473,-22.0951,loss_of_function,-3.26013860704641,0.5708415289517814,0.9452294576576096,Pathogenic,0.4024,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R69Y,NP_000240:p.Arg69Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.45508,0.4449,0.8697968552952551,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,False,74.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.52,-,-0.2698,1.7473,-22.0951,loss_of_function,-3.08037768512115,0.5930331891166462,0.8944132556703727,Pathogenic,0.7046,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70A,NP_000240:p.Lys70Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.67388,-0.2398,0.1573688176038007,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1066,1.5138,-7.2191,loss_of_function,-2.09623287609189,0.7145268203301834,0.5906027330301953,Uncertain,0.2927,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70C,NP_000240:p.Lys70Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36045,0.9051,0.737872242070583,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1848,1.5138,-8.804,loss_of_function,-2.31866064124225,0.6870678969858793,0.7813868060865876,Pathogenic,0.4634,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70D,NP_000240:p.Lys70Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.47294,0.41803,1.3410718670781463,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.2915,1.5138,-22.0918,loss_of_function,-2.91286127348566,0.6137132526100788,0.78616265999124,Pathogenic,0.742,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70E,NP_000240:p.Lys70Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22076,0.28605,0.8290764948460289,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1424678,Uncertain significance,1,93.31,T,-0.1344,1.5138,-7.8041,loss_of_function,-2.3781152876102,0.679728163225678,0.2938722315391239,Benign,0.1654,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70F,NP_000240:p.Lys70Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40464,-0.13197,-1.1371846165213266,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.31,T,-0.1807,1.5138,-7.8041,loss_of_function,-1.83303751347138,0.747018543123367,0.4868547892252993,Uncertain,0.6592,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70G,NP_000240:p.Lys70Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.41635,1.34932,1.3826522661030622,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.2417,1.5138,-22.0918,loss_of_function,-3.36389794188668,0.5580323384277973,0.7619320208089565,Pathogenic,0.4243,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70H,NP_000240:p.Lys70His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.2189,0.04932,-0.1693528922630449,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1064,1.5138,-5.2192,loss_of_function,-1.5045555734125,0.7875699572238852,0.2160130094976458,Benign,0.2908,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70I,NP_000240:p.Lys70Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09806,0.16905,-0.5886863152777078,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.31,T,-0.2208,1.5138,-22.0918,loss_of_function,-2.46548290994242,0.6689425455094149,0.7715541235696767,Pathogenic,0.3171,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70L,NP_000240:p.Lys70Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.51194,-0.12483,-0.9656559991210972,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.31,T,-0.1347,1.5138,-5.4822,loss_of_function,-1.7563252604717,0.7564887451607032,0.0554045154358337,Benign,0.2614,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70M,NP_000240:p.Lys70Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.84116,-0.22007,-0.5518529216321283,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1247,1.5138,-8.804,loss_of_function,-2.30858627716565,0.6883115870024336,0.769231971535199,Pathogenic,0.1869,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70N,NP_000240:p.Lys70Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53517,0.52313,0.6039362446166541,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1278,1.5138,-7.8041,loss_of_function,-1.92445857880698,0.7357325239368331,0.4529256074655279,Uncertain,0.5729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70P,NP_000240:p.Lys70Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.84815,-0.49354,2.8901583911078803,Neutral,Uncertain,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.2838,1.5138,-7.8041,loss_of_function,-2.1663569331843,0.7058699374676035,0.594704615194296,Uncertain,0.4953,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70Q,NP_000240:p.Lys70Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61056,-0.26395,0.2703359811357186,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1088,1.5138,-7.8041,loss_of_function,-2.4124346192581,0.6754914084468382,0.2668505937104949,Benign,0.1048,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70R,NP_000240:p.Lys70Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46074,-0.56156,-0.2195962951688324,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2811908,Uncertain significance,1,93.31,T,-0.018,1.5138,-2.8734,loss_of_function,-0.211513880875762,0.9471972083107888,0.0127593849239104,Benign,0.0633,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70S,NP_000240:p.Lys70Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.43531,0.34524,0.8617494746785206,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1105,1.5138,-5.9968,loss_of_function,-1.6907257297497,0.7645870708544404,0.3376557174466538,Uncertain,0.4549,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70T,NP_000240:p.Lys70Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49361,0.47551,0.2832410692239556,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1315,1.5138,-7.8041,loss_of_function,-2.20640205908533,0.7009263278346691,0.1870594108925397,Benign,0.2369,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70V,NP_000240:p.Lys70Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22226,-0.46429,-0.4296642934560735,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.31,T,-0.1237,1.5138,-6.2192,loss_of_function,-1.72195614956827,0.7607316452369198,0.1231429809798777,Benign,0.2637,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70W,NP_000240:p.Lys70Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49509,-0.49898,-1.4045836080618002,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.31,T,-0.2626,1.5138,-22.0918,loss_of_function,-2.70134256738151,0.6398254420342453,0.9720278379220266,Pathogenic,0.5774,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K70Y,NP_000240:p.Lys70Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.2997,-0.27347,-0.8754910135113653,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,55.8,,False,55.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.31,T,-0.1604,1.5138,-6.8041,loss_of_function,-2.11689245525218,0.7119763752447665,0.4135478947818939,Uncertain,0.5317,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71A,NP_000240:p.Glu71Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41726,0.23265,0.6760226486515244,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.0782,1.6586,-4.6342,loss_of_function,-1.99897131879598,0.7265338539140106,0.1266321172933047,Benign,0.128,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71C,NP_000240:p.Glu71Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.85736,0.44626,1.3216944556086805,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.2366,1.6586,-22.0918,loss_of_function,-3.03790581976462,0.598276382089098,0.6246761506314559,Uncertain,0.715,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71D,NP_000240:p.Glu71Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.64964,-0.98878,0.4940526812354168,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,1786532,Uncertain significance,1,93.36,G,-0.0324,1.6586,-2.3779,loss_of_function,-0.370060837451897,0.9276244327440613,0.0025633044104559,Benign,0.0948,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71F,NP_000240:p.Glu71Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.23533,0.24354,0.1817179668430607,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2143,1.6586,-22.0918,loss_of_function,-3.79564382157007,0.5047328908231731,0.8980129628919733,Pathogenic,0.8463,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71G,NP_000240:p.Glu71Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.67508,0.8966,1.20740745808178,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,455419,Uncertain significance,1,93.36,G,-0.1134,1.6586,-6.4822,loss_of_function,-1.33941643593724,0.8079565439164786,0.2762762271616761,Benign,0.1631,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71H,NP_000240:p.Glu71His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.68607,0.04932,0.2346069543443851,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.1378,1.6586,-8.804,loss_of_function,-3.40851877354206,0.5525238534814333,0.7655449884628825,Pathogenic,0.5515,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71I,NP_000240:p.Glu71Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22444,0.0966,0.1986259393927614,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2196,1.6586,-22.0918,loss_of_function,-2.78393467694892,0.6296293660006494,0.7970114448641736,Pathogenic,0.4266,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71K,NP_000240:p.Glu71Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37313,0.11905,0.3687650385483382,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.1164,1.6586,-7.8041,loss_of_function,-2.90899319427446,0.6141907707404176,0.5488578004637386,Uncertain,0.2621,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71L,NP_000240:p.Glu71Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.04355,-0.13537,0.168798677778611,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2218,1.6586,-22.0918,loss_of_function,-3.4259939378244,0.5503665275013178,0.8828033688259322,Pathogenic,0.523,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71M,NP_000240:p.Glu71Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14625,0.5119,0.50016194679001,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.1706,1.6586,-22.0918,loss_of_function,-3.66401132429457,0.5209830502844429,0.8314663055916963,Pathogenic,0.5094,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71N,NP_000240:p.Glu71Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.72039,0.07517,0.681536502081437,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.1206,1.6586,-7.8041,loss_of_function,-1.89830238096274,0.738961531930048,0.4777096063163111,Uncertain,0.2422,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71P,NP_000240:p.Glu71Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09747,2.84626,2.3399072599093533,Uncertain,Uncertain,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.3243,1.6586,-22.0918,loss_of_function,-3.45139566735868,0.5472306593527392,0.8489613590323424,Pathogenic,0.6979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71Q,NP_000240:p.Glu71Gln,"hg19,3:g.37042449G>C",,,0.724,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.18591,0.25136,0.6109964900247788,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.0577,1.6586,-5.9968,loss_of_function,-1.43844007725526,0.7957319793510464,0.1843132529976878,Benign,0.1834,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71R,NP_000240:p.Glu71Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41171,0.67619,0.2689893004070398,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2498,1.6586,-22.0918,loss_of_function,-3.66401132429457,0.5209830502844429,0.8983992060198399,Pathogenic,0.4317,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71S,NP_000240:p.Glu71Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.70047,0.18265,0.7119002049427253,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.0898,1.6586,-4.2806,loss_of_function,-1.99115723009456,0.7274985107432191,0.3862257130523294,Uncertain,0.1733,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71T,NP_000240:p.Glu71Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.66983,0.11259,0.6302665396358587,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,93.36,G,-0.1135,1.6586,-5.8041,loss_of_function,-2.08027987623601,0.716496233635479,0.4414264562195786,Uncertain,0.199,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71V,NP_000240:p.Glu71Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.50423,-0.13061,0.3261021865718977,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.36,G,-0.1076,1.6586,-7.8041,loss_of_function,-3.10495777289595,0.5899987534401996,0.6944710324257307,Pathogenic,0.2394,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71W,NP_000240:p.Glu71Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22336,0.44762,-0.1901774484611407,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2244,1.6586,-22.0918,loss_of_function,-3.79564382157007,0.5047328908231731,0.961918715972998,Pathogenic,0.9215,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E71Y,NP_000240:p.Glu71Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29399,0.03197,0.2155594846173253,Neutral,Neutral,False,0.027,,,,,,,Uncertain,Uncertain,Uncertain,74.6,,True,74.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.36,G,-0.2151,1.6586,-22.0918,loss_of_function,-3.2165861132107,0.5762181265581081,0.9239234052333752,Pathogenic,0.69,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72A,NP_000240:p.Asp72Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.14414,2.35884,0.4784202675675336,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.58,G,-0.3325,0.1681,-22.0918,loss_of_function,-6.27339066205283,0.19885264015655638,0.9398407173032636,Pathogenic,0.9511,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72C,NP_000240:p.Asp72Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.9199,2.91122,1.053889276779372,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.58,G,-0.3739,0.1681,-22.0918,loss_of_function,-6.27339066205283,0.19885264015655638,0.9729090662416722,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72E,NP_000240:p.Asp72Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59706,1.18503,0.3491992882157202,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1787080,Uncertain significance,1,94.58,G,-0.2096,0.1681,-8.804,loss_of_function,-3.19566055645708,0.5788014068353978,0.7041259773013487,Pathogenic,0.9422,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72F,NP_000240:p.Asp72Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.16827,1.4,-0.4388873643817664,Uncertain,Uncertain,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4326,0.1681,-22.0918,loss_of_function,-6.51335821596269,0.16922841287775126,0.9873351562857232,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72G,NP_000240:p.Asp72Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.06317,3.71054,1.5528737855321395,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,455420,Uncertain significance,2,94.58,G,-0.3436,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9952839060537728,Pathogenic,0.9689,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72H,NP_000240:p.Asp72His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0423,1.85204,0.0462888711256515,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.274,0.1681,-8.804,loss_of_function,-6.51335821596269,0.16922841287775126,0.9924010793142232,Pathogenic,0.9642,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72I,NP_000240:p.Asp72Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.78246,1.30408,-0.4160447088223662,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4248,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9897818931905512,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72K,NP_000240:p.Asp72Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.68744,2.28503,0.3687021072697471,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4032,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9890418474688544,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72L,NP_000240:p.Asp72Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.06404,1.29864,-0.4912680419590187,Uncertain,Uncertain,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4185,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9866958197244168,Pathogenic,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72M,NP_000240:p.Asp72Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.52654,1.64796,-0.0295652342039043,Uncertain,Uncertain,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.3572,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9888757070047672,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72N,NP_000240:p.Asp72Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.91677,1.84116,0.385877699090093,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,820801,Uncertain significance,2,94.58,G,-0.2233,0.1681,-7.2191,loss_of_function,-2.09673526516766,0.7144647999115038,0.417781706671211,Uncertain,0.7549,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72P,NP_000240:p.Asp72Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.22174,7.89422,5.2323042781066125,Uncertain,Uncertain,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.58,G,-0.4694,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9878979545295624,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72Q,NP_000240:p.Asp72Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.65048,0.87177,0.4013660929189216,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.3594,0.1681,-22.0918,loss_of_function,-4.15126215445495,0.4608314627082339,0.8364735616793457,Pathogenic,0.9833,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72R,NP_000240:p.Asp72Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.53334,2.92211,0.0489915365053478,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4342,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.988305552901364,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72S,NP_000240:p.Asp72Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.5473,2.89184,0.9291016711273828,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,94.58,G,-0.266,0.1681,-7.8041,loss_of_function,-5.03486163088311,0.3517502503249395,0.8655284270177505,Pathogenic,0.8905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72T,NP_000240:p.Asp72Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.10262,2.2381,0.328730574273709,Uncertain,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,94.58,G,-0.3689,0.1681,-22.0918,loss_of_function,-6.27339066205283,0.19885264015655638,0.9851370639550492,Pathogenic,0.9814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72V,NP_000240:p.Asp72Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.58766,1.54286,-0.2406040307352075,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.3795,0.1681,-22.0918,loss_of_function,-6.89369779029959,0.12227512352800554,0.9910128266501002,Pathogenic,0.9648,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72W,NP_000240:p.Asp72Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.58974,1.26871,-0.720680069088126,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,94.58,G,-0.4131,0.1681,-22.0918,loss_of_function,-6.51335821596269,0.16922841287775126,0.9895405892534924,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D72Y,NP_000240:p.Asp72Tyr,"hg19,3:g.37042452G>T, hg38,3:g.37000961G>T",,,0.957,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.18681,1.87755,-0.2574543494618764,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,525788,Uncertain significance,1,94.58,G,-0.3097,0.1681,-8.804,loss_of_function,-6.51335821596269,0.16922841287775126,0.919530915228482,Pathogenic,0.9199,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73A,NP_000240:p.Leu73Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.07367,3.56429,3.5587638067559912,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3264,1.0042,-22.0983,loss_of_function,-4.91515645701083,0.3665279701435671,0.4888120757482914,Uncertain,0.7397,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73C,NP_000240:p.Leu73Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.94382,3.50782,3.615035265970378,Uncertain,Uncertain,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3156,1.0042,-22.0983,loss_of_function,-4.98873376147262,0.3574447805438736,0.5434890311925844,Uncertain,0.7143,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73D,NP_000240:p.Leu73Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.655,5.35102,4.567565078421813,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.4479,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9282644455483636,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73E,NP_000240:p.Leu73Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.71503,4.86088,4.207114539961447,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.416,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9481273365569196,Pathogenic,0.972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73F,NP_000240:p.Leu73Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.48448,2.22925,2.0241962924301142,Uncertain,Uncertain,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.79,G,-0.1721,1.0042,-4.9037,loss_of_function,-2.45196798197422,0.6706109764754489,0.01204315488688,Benign,0.2822,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73G,NP_000240:p.Leu73Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.46836,5.58912,5.288102714364007,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.4012,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.8080317334241813,Pathogenic,0.9359,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73H,NP_000240:p.Leu73His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.19212,4.57619,3.2139550038404434,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3688,1.0042,-22.0983,loss_of_function,-4.15501779095282,0.46036782573991586,0.9244907192833473,Pathogenic,0.9023,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73I,NP_000240:p.Leu73Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.65768,2.55442,1.9120751935007063,Uncertain,Uncertain,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,93.79,G,-0.2005,1.0042,-22.0983,loss_of_function,-2.32083868170952,0.6867990157776762,0.5200434189991416,Uncertain,0.2743,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73K,NP_000240:p.Leu73Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.26482,5.29184,4.570994437550315,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,93.79,G,-0.415,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9379096196602738,Pathogenic,0.9588,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73M,NP_000240:p.Leu73Met,"hg19,3:g.37042455C>A",,,0.512,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02678,1.13401,1.834072584584589,Neutral,Neutral,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,569141,Uncertain significance,2,93.79,G,-0.1213,1.0042,-2.0162,loss_of_function,-0.113460483477722,0.9593019953232432,6.776397133431236e-05,Benign,0.0738,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73N,NP_000240:p.Leu73Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.25102,3.83605,3.332520009444243,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3942,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9257921828292944,Pathogenic,0.9617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73P,NP_000240:p.Leu73Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.80171,12.93537,7.036252198876157,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1365656,Conflicting classifications of pathogenicity,1,93.79,G,-0.4098,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9686001721862244,Pathogenic,0.9914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73Q,NP_000240:p.Leu73Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.49869,2.90204,3.264353626944866,Uncertain,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3472,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.9427593172456394,Pathogenic,0.8277,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73R,NP_000240:p.Leu73Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.81135,6.58095,3.870443168596398,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,42192,Pathogenic/Likely pathogenic,2,93.79,G,-0.4066,1.0042,-22.0983,loss_of_function,-5.36264507655388,0.31128506603411515,0.7479041277597724,Pathogenic,0.9326,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73S,NP_000240:p.Leu73Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.83796,4.89728,4.35855770657935,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3568,1.0042,-22.0983,loss_of_function,-4.98873376147262,0.3574447805438736,0.7158236290901163,Pathogenic,0.8922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73T,NP_000240:p.Leu73Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.34989,4.12857,3.583645880608657,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.79,G,-0.3295,1.0042,-22.0983,loss_of_function,-4.98873376147262,0.3574447805438736,0.6534226306497035,Uncertain,0.7135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73V,NP_000240:p.Leu73Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.98098,3.1085,2.4213892779874024,Destabilizing,Uncertain,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,487017,Uncertain significance,2,93.79,G,-0.2368,1.0042,-22.0983,loss_of_function,-3.0796372451529,0.5931245971488919,0.413071274803184,Uncertain,0.2387,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73W,NP_000240:p.Leu73Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.63224,6.8415,3.156477494857307,Destabilizing,Destabilizing,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.79,G,-0.359,1.0042,-22.0983,loss_of_function,-4.15501779095282,0.46036782573991586,0.9318974027238156,Pathogenic,0.7386,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L73Y,NP_000240:p.Leu73Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86259,3.59184,2.956095580405924,Destabilizing,Uncertain,False,0.079,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.79,G,-0.3519,1.0042,-22.0983,loss_of_function,-3.78551430574579,0.5059833893764709,0.8444835408369606,Pathogenic,0.8187,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74A,NP_000240:p.Asp74Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.286,-0.67449,0.489665050061786,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,G,-0.0368,2.3706,-3.8564,loss_of_function,-0.776695575106987,0.8774249799785565,0.0013741235651531,Benign,0.0704,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74C,NP_000240:p.Asp74Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.02651,-0.32789,1.0897489410208878,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.45,G,-0.1713,2.3706,-22.0983,loss_of_function,-2.87395379835332,0.6185164181521915,0.3926756598198669,Uncertain,0.2629,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74E,NP_000240:p.Asp74Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.28802,-0.65986,0.3873905980701614,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,0.0269,2.3706,-2.1667,gain_of_function,-0.107530588281523,0.9600340466367208,0.0003746638575092,Benign,0.0712,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74F,NP_000240:p.Asp74Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.24192,-1.6085,-0.0787962989664892,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.23,2.3706,-22.0983,loss_of_function,-3.56632188258455,0.5330429066142046,0.597987403036237,Uncertain,0.367,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74G,NP_000240:p.Asp74Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.04315,0.74354,1.1636164691735646,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,G,-0.0504,2.3706,-4.3511,loss_of_function,-1.39498467757127,0.80109659059017,0.0006673499262515,Benign,0.071,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74H,NP_000240:p.Asp74His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.32569,-1.0517,0.0133772069867726,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.0663,2.3706,-7.8105,loss_of_function,-1.2221252110434,0.8224362593923874,0.0443197746212327,Benign,0.1402,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74I,NP_000240:p.Asp74Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.6187,-1.15136,0.1751029253350905,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.2222,2.3706,-22.0983,loss_of_function,-3.70104957590208,0.5164106421994624,0.2840009033519733,Benign,0.2067,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74K,NP_000240:p.Asp74Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.74653,-1.82109,0.236590739532857,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.1328,2.3706,-8.8104,loss_of_function,-2.32896276280766,0.6857960900864257,0.0768035460869422,Benign,0.1885,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74L,NP_000240:p.Asp74Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.00167,-1.69388,-0.2044333320783964,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.2159,2.3706,-22.0983,loss_of_function,-2.94234586422573,0.6100733512856085,0.2981228184169584,Benign,0.1964,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74M,NP_000240:p.Asp74Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.29577,-0.90272,0.1507354305293384,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.1546,2.3706,-22.0983,loss_of_function,-3.34118964282764,0.5608356999718033,0.3095804792988594,Benign,0.3263,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74N,NP_000240:p.Asp74Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.05943,-0.7068,0.2910803893594138,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,572402,Uncertain significance,1,93.45,G,-0.0144,2.3706,-6.0032,loss_of_function,-0.267875867087798,0.9402392664464589,0.0240639689496582,Benign,0.0747,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74P,NP_000240:p.Asp74Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.79781,0.1585,3.0648105676707083,Neutral,Uncertain,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.45,G,-0.1625,2.3706,-1.6608,loss_of_function,-1.24211126850298,0.8199689612141834,0.0056026389201149,Benign,0.1855,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74Q,NP_000240:p.Asp74Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48313,-1.06633,0.4672590269386695,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.089,2.3706,-8.8104,loss_of_function,-1.78321137964513,0.7531696276714366,0.0703115085262776,Benign,0.1343,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74R,NP_000240:p.Asp74Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.83106,-0.46735,0.0454492327897176,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.2316,2.3706,-22.0983,loss_of_function,-2.91912097873328,0.6129404859258649,0.1971080853318537,Benign,0.2294,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74S,NP_000240:p.Asp74Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00722,-0.06395,0.548644007397453,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,G,-0.0502,2.3706,-5.2256,loss_of_function,-1.17697672117404,0.828009884257052,0.0058951624299482,Benign,0.0741,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74T,NP_000240:p.Asp74Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06014,-0.51871,0.5066072410775574,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.45,G,-0.0883,2.3706,-6.8105,loss_of_function,-0.589619487479601,0.900519704444453,0.0334315741832628,Benign,0.1165,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74V,NP_000240:p.Asp74Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.12171,-0.99932,0.3178872033823043,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,405401,Uncertain significance,2,93.45,G,-0.1769,2.3706,-22.0983,loss_of_function,-3.70104957590208,0.5164106421994624,0.2452889522527772,Benign,0.1191,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74W,NP_000240:p.Asp74Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.33624,-1.11156,-0.4389810579129038,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,G,-0.2104,2.3706,-22.0983,loss_of_function,-3.56632188258455,0.5330429066142046,0.8217732443111383,Pathogenic,0.6934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D74Y,NP_000240:p.Asp74Tyr,"hg19,3:g.37042458G>T",,,0.665,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.04841,-1.48265,-0.0134675598317623,Neutral,Neutral,False,0.095,,,,,,,Uncertain,Uncertain,Uncertain,64.7,,True,64.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2769231,Uncertain significance,1,93.45,G,-0.1748,2.3706,-22.0983,loss_of_function,-3.56632188258455,0.5330429066142046,0.7106431973375634,Pathogenic,0.1605,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75A,NP_000240:p.Ile75Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.55184,0.72279,0.8614462133543804,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.3795,0.5003,-22.0983,loss_of_function,-4.79568141370223,0.38127728012090073,0.561386519925624,Uncertain,0.7344,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75C,NP_000240:p.Ile75Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3378,0.94762,1.2657684683703831,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.3595,0.5003,-22.0983,loss_of_function,-4.96612202391767,0.360236221476543,0.9875948042880196,Pathogenic,0.9288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75D,NP_000240:p.Ile75Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99881,1.27585,0.9466011742696352,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.5036,0.5003,-22.0983,loss_of_function,-4.95241350571038,0.36192855134535906,0.9721165094464088,Pathogenic,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75E,NP_000240:p.Ile75Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.24385,0.6415,0.7422633006395848,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.4845,0.5003,-22.0983,loss_of_function,-4.95241350571038,0.36192855134535906,0.9671240961788494,Pathogenic,0.9711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75F,NP_000240:p.Ile75Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.26472,-0.09966,0.0609366028998398,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,405409,Uncertain significance,2,93.08,T,-0.3405,0.5003,-22.0983,loss_of_function,-4.88769882936759,0.3699176409077475,0.9531350516266922,Pathogenic,0.6544,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75G,NP_000240:p.Ile75Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35139,1.31259,1.4411745808282583,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.4702,0.5003,-22.0983,loss_of_function,-5.86328189586601,0.24948096511382292,0.9921063411320432,Pathogenic,0.9662,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75H,NP_000240:p.Ile75His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.42409,-0.12313,0.2562639552198237,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.4701,0.5003,-22.0983,loss_of_function,-5.33528621547389,0.314662543970267,0.975720894568104,Pathogenic,0.9566,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75K,NP_000240:p.Ile75Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.17356,0.0398,0.4622510971592947,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.08,T,-0.477,0.5003,-22.0983,loss_of_function,-4.68299636598103,0.39518835855723716,0.903890233032172,Pathogenic,0.9208,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75L,NP_000240:p.Ile75Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.02497,0.28571,0.1266366168924931,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.08,T,-0.1714,0.5003,-3.8106,loss_of_function,-0.815486345118538,0.8726362217967996,0.4998637441523447,Uncertain,0.211,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75M,NP_000240:p.Ile75Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17874,0.9119,0.4449486812983977,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.08,T,-0.1945,0.5003,-7.2256,loss_of_function,-1.73086954755411,0.7596312776103109,0.7568696075416066,Pathogenic,0.2673,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75N,NP_000240:p.Ile75Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38957,0.49932,0.5345445125062206,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.4167,0.5003,-22.0983,loss_of_function,-4.70996492583608,0.39185906368586393,0.9463486382091816,Pathogenic,0.8974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75P,NP_000240:p.Ile75Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.71758,5.14286,3.771776590175074,Uncertain,Uncertain,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.5236,0.5003,-22.0983,loss_of_function,-5.86328189586601,0.24948096511382292,0.9828676357238068,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75Q,NP_000240:p.Ile75Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.12782,0.67959,0.797399292412766,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.08,T,-0.4442,0.5003,-22.0983,loss_of_function,-4.95241350571038,0.36192855134535906,0.9682618151313904,Pathogenic,0.9539,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75R,NP_000240:p.Ile75Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.23261,0.10748,0.252367265681499,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.08,T,-0.5038,0.5003,-22.0983,loss_of_function,-5.53954282664129,0.28944686720967244,0.9077158480372096,Pathogenic,0.8793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75S,NP_000240:p.Ile75Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59807,0.4051,1.0003294216150609,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1788411,Uncertain significance,1,93.08,T,-0.4201,0.5003,-22.0983,loss_of_function,-4.75863107858807,0.38585117992649726,0.9361056860434034,Pathogenic,0.8296,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75T,NP_000240:p.Ile75Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.71702,0.23776,0.8876677472802843,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,234084,Uncertain significance,2,93.08,T,-0.3369,0.5003,-22.0983,loss_of_function,-4.96612202391767,0.360236221476543,0.904713129931732,Pathogenic,0.4504,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75V,NP_000240:p.Ile75Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.34001,-0.14524,0.6159632267334897,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,820939,Uncertain significance,2,93.08,T,-0.1469,0.5003,-6.8105,loss_of_function,-0.397864280470644,0.9241920707363621,0.8402351259606923,Pathogenic,0.1292,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75W,NP_000240:p.Ile75Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61229,0.71429,0.0077948776097425,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.08,T,-0.4294,0.5003,-22.0983,loss_of_function,-5.33528621547389,0.314662543970267,0.9930144103172668,Pathogenic,0.971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I75Y,NP_000240:p.Ile75Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39323,-0.64048,0.2010392595591731,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,63.9,,True,63.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.08,T,-0.4383,0.5003,-22.0983,loss_of_function,-4.69376574145247,0.39385886870988646,0.948501507308206,Pathogenic,0.9321,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76A,NP_000240:p.Val76Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.88079,1.42789,1.5844804853799297,Neutral,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1788924,Uncertain significance,1,93.46,T,-0.1805,1.053,-7.8105,loss_of_function,-3.41850769735945,0.5512907111477484,0.8999297806233908,Pathogenic,0.7483,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76C,NP_000240:p.Val76Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.7882,1.46837,1.898379033178629,Neutral,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.2813,1.053,-22.0983,loss_of_function,-4.51857828028049,0.41548593070888096,0.8494222572519791,Pathogenic,0.9375,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76D,NP_000240:p.Val76Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.37691,3.58401,3.0382412975812665,Destabilizing,Destabilizing,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.42,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9859098616928584,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76E,NP_000240:p.Val76Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.50112,4.51701,2.443196948533627,Destabilizing,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,525711,Conflicting classifications of pathogenicity,1,93.46,T,-0.3773,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9906027871481502,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76F,NP_000240:p.Val76Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.54926,3.87347,0.7416417562702645,Destabilizing,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.3305,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9898294643023112,Pathogenic,0.9595,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76G,NP_000240:p.Val76Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.46894,3.71735,3.0640928084961496,Destabilizing,Destabilizing,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.3792,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9889638004391929,Pathogenic,0.937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76H,NP_000240:p.Val76His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.60585,3.90578,1.406648026255748,Destabilizing,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.4229,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.986005723157552,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76I,NP_000240:p.Val76Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.25246,0.8568,0.2108344403591383,Neutral,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,237335,Uncertain significance,2,93.46,T,-0.113,1.053,-7.2256,loss_of_function,-0.743835249449161,0.8814816190528068,0.3514772202926167,Uncertain,0.1236,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76K,NP_000240:p.Val76Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.34284,5.91565,1.8149083893961464,Uncertain,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.4162,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.990795855090972,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76L,NP_000240:p.Val76Leu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.55022,2.64558,0.2635244088507937,Uncertain,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,"1788767, 863387","Uncertain significance, Uncertain significance","1, 2",93.46,T,-0.1488,1.053,-1.4886,loss_of_function,-0.532985639575676,0.9075112078983297,0.1494629849041772,Benign,0.5432,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76M,NP_000240:p.Val76Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.4162,1.95748,0.879858498109724,Neutral,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.2631,1.053,-22.0983,loss_of_function,-3.00667799557809,0.6021314872733257,0.929496003235106,Pathogenic,0.8322,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76N,NP_000240:p.Val76Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.71342,2.68571,1.886241055659388,Uncertain,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.4078,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9845843475002862,Pathogenic,0.9907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76P,NP_000240:p.Val76Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.83889,6.04082,7.209508582071042,Destabilizing,Destabilizing,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.4577,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9907714164085716,Pathogenic,0.9882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76Q,NP_000240:p.Val76Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.25112,2.66156,1.5704992113894016,Uncertain,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,93.46,T,-0.3879,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9873490277234428,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76R,NP_000240:p.Val76Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.43186,6.94252,0.9336134364879756,Uncertain,Neutral,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.4372,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9885462037876528,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76S,NP_000240:p.Val76Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.33299,2.69762,2.4110461263778027,Uncertain,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.2892,1.053,-8.8104,loss_of_function,-4.16683219158623,0.45890932652273225,0.8730555720057602,Pathogenic,0.9347,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76T,NP_000240:p.Val76Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.06634,1.83878,1.5315198979525315,Uncertain,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.46,T,-0.2724,1.053,-22.0983,loss_of_function,-4.51857828028049,0.41548593070888096,0.9574399216927888,Pathogenic,0.8226,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76W,NP_000240:p.Val76Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.07238,4.46088,0.584284060610912,Destabilizing,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.3711,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9859394716550351,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V76Y,NP_000240:p.Val76Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.59823,4.78776,0.9856448854704286,Destabilizing,Uncertain,False,0.237,,,,,,,Uncertain,Uncertain,Uncertain,20.7,,True,20.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.46,T,-0.374,1.053,-22.0983,loss_of_function,-5.76143857119236,0.26205362232436663,0.9879374198346088,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77A,NP_000240:p.Cys77Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.82386,0.87619,0.8986936416476504,Neutral,Neutral,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.3623,0.3933,-3.8106,loss_of_function,-2.33140930937157,0.6854940615401637,0.7026496588310319,Pathogenic,0.807,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77D,NP_000240:p.Cys77Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.22403,3.09286,2.922736098258061,Destabilizing,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,T,-0.5629,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9934943530667916,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77E,NP_000240:p.Cys77Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.97685,3.14218,2.604009954180561,Destabilizing,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5505,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9946696332485911,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77F,NP_000240:p.Cys77Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.966,2.11973,0.6675875174818224,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4496,0.3933,-22.0983,loss_of_function,-5.07453004454754,0.34685314618299296,0.9254392116245018,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77G,NP_000240:p.Cys77Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.99051,2.7381,3.161792457310438,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,642117,Uncertain significance,2,92.84,T,-0.448,0.3933,-22.0983,loss_of_function,-5.41575404040272,0.30472871293568393,0.9860461802089155,Pathogenic,0.7057,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77H,NP_000240:p.Cys77His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.25061,3.41565,1.5343287746938488,Destabilizing,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5613,0.3933,-22.0983,loss_of_function,-5.3215402148063,0.31635950108516214,0.9946696332485911,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77I,NP_000240:p.Cys77Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.01793,1.72109,-0.626703780791314,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4794,0.3933,-22.0983,loss_of_function,-5.92029545740226,0.2424425856437447,0.9495186723747592,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77K,NP_000240:p.Cys77Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.34665,6.09966,3.8330678960029534,Destabilizing,Destabilizing,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5511,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9971408681313176,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77L,NP_000240:p.Cys77Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.65228,2.09694,-0.8311596566748108,Uncertain,Neutral,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5125,0.3933,-22.0983,loss_of_function,-5.8303179321773,0.25355039840350607,0.9569759162438912,Pathogenic,0.9745,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77M,NP_000240:p.Cys77Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35985,1.80816,0.0003135134025228,Neutral,Neutral,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4797,0.3933,-22.0983,loss_of_function,-5.92029545740226,0.2424425856437447,0.9866811313838316,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77N,NP_000240:p.Cys77Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.67957,1.3915,1.1723517905874876,Neutral,Neutral,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5053,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9952842179996322,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77P,NP_000240:p.Cys77Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.91225,5.96224,6.0558480201659926,Destabilizing,Destabilizing,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,T,-0.5739,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9875219398936012,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77Q,NP_000240:p.Cys77Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.06891,2.58469,1.1574742870265682,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.5292,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9955367820418478,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77R,NP_000240:p.Cys77Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.21766,5.24864,2.719619486767597,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90110,Pathogenic,3,92.84,T,-0.5079,0.3933,-22.0983,loss_of_function,-6.56213446096667,0.16320693812309603,0.9947138937932404,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77S,NP_000240:p.Cys77Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.82993,1.82279,2.108748252937032,Neutral,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,422226,Conflicting classifications of pathogenicity,1,92.84,T,-0.4464,0.3933,-22.0983,loss_of_function,-3.9550904362375,0.48504905159248135,0.9958990930291582,Pathogenic,0.9145,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77T,NP_000240:p.Cys77Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.8576,0.31327,0.8342913730687479,Neutral,Neutral,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.481,0.3933,-22.0983,loss_of_function,-3.9550904362375,0.48504905159248135,0.9846916904740984,Pathogenic,0.9691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77V,NP_000240:p.Cys77Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.90156,-0.54864,-0.5847965961583806,Uncertain,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4097,0.3933,-8.8104,loss_of_function,-4.95150688006306,0.36204047516087245,0.9303515233233356,Pathogenic,0.9744,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77W,NP_000240:p.Cys77Trp,"hg19,3:g.37042469T>G",,,0.893,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.02535,5.3534,2.3721129547601985,Destabilizing,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4527,0.3933,-22.0983,loss_of_function,-5.3215402148063,0.31635950108516214,0.9859120981762248,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C77Y,NP_000240:p.Cys77Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.1511,3.3602,1.9650184096083227,Destabilizing,Uncertain,False,0.262,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90112,Pathogenic,3,92.84,T,-0.4589,0.3933,-22.0983,loss_of_function,-5.3215402148063,0.31635950108516214,0.9667597192337326,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78A,NP_000240:p.Glu78Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.44637,0.09014,0.2854980797368267,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,659436,Uncertain significance,1,90.84,S,-0.2235,0.3111,-8.8104,loss_of_function,-4.24161122664602,0.4496777821151366,0.8752911507242048,Pathogenic,0.6652,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78C,NP_000240:p.Glu78Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.14701,0.10578,0.7830299356639161,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.3607,0.3111,-22.0983,loss_of_function,-4.91601176857267,0.36642238110167663,0.9721296778241576,Pathogenic,0.9602,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78D,NP_000240:p.Glu78Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.18976,0.12347,0.2667232894659771,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.1892,0.3111,-8.8104,loss_of_function,-3.26914463683572,0.5697297258391888,0.9376951697858792,Pathogenic,0.8488,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78F,NP_000240:p.Glu78Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.11895,-0.59354,-0.4705591734326969,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.3383,0.3111,-22.0983,loss_of_function,-5.44405996364133,0.3012343192574787,0.9665314168200276,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78G,NP_000240:p.Glu78Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24516,0.99626,0.8649591487848115,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.3171,0.3111,-22.0983,loss_of_function,-5.04105969368486,0.3509850934604563,0.9703789023441632,Pathogenic,0.7795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78H,NP_000240:p.Glu78His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.30756,-0.46156,-0.1458086565263733,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.2618,0.3111,-8.8104,loss_of_function,-4.32642190467068,0.43920782165366573,0.8393183651410565,Pathogenic,0.8926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78I,NP_000240:p.Glu78Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.10442,-0.62721,-0.2537038738705843,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.3436,0.3111,-22.0983,loss_of_function,-4.95883428931511,0.3611358993817274,0.9614661255492952,Pathogenic,0.8906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78K,NP_000240:p.Glu78Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48367,-0.16122,0.0828573340189808,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.2455,0.3111,-8.8104,loss_of_function,-4.16676076084374,0.4589181447171745,0.7361878633432417,Pathogenic,0.6562,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78L,NP_000240:p.Glu78Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.53446,-0.4398,-0.6306846763587071,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.3458,0.3111,-22.0983,loss_of_function,-4.38346276853459,0.43216607168475707,0.8657778516881922,Pathogenic,0.8983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78M,NP_000240:p.Glu78Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.65755,-0.60034,-0.180639728608502,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.2946,0.3111,-22.0983,loss_of_function,-4.49357423025764,0.41857270493605736,0.9089819710087716,Pathogenic,0.8778,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78N,NP_000240:p.Glu78Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.28753,0.3949,0.0785701189548659,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.2497,0.3111,-8.8104,loss_of_function,-3.78961551500272,0.50547709111587,0.9561625706683664,Pathogenic,0.8937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78P,NP_000240:p.Glu78Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.49259,6.01156,5.193499335496647,Destabilizing,Destabilizing,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.4483,0.3111,-22.0983,loss_of_function,-6.27810764209293,0.19827032439552647,0.9925331128987908,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78Q,NP_000240:p.Glu78Gln,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.04503,-0.2051,0.2082669202420961,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1789704,Uncertain significance,1,90.84,S,-0.1807,0.3111,-5.8106,loss_of_function,-2.24548054657662,0.6961020506509763,0.4431859204180176,Uncertain,0.3012,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78R,NP_000240:p.Glu78Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.7651,-0.28469,-0.1957903378204573,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.306,0.3111,-8.8104,loss_of_function,-4.80324736646525,0.380343255913959,0.9349872883765868,Pathogenic,0.7584,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78S,NP_000240:p.Glu78Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.4205,0.46088,0.6005985093896477,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.3048,0.3111,-22.0983,loss_of_function,-5.26081412640159,0.3238561955979948,0.9053213407793526,Pathogenic,0.7061,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78T,NP_000240:p.Glu78Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.44636,0.13027,0.2910681628445288,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.84,S,-0.2528,0.3111,-8.8104,loss_of_function,-3.85527191147056,0.4973717452906538,0.9199270543101324,Pathogenic,0.7968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78V,NP_000240:p.Glu78Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47952,-0.62925,-0.0705871976016209,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,923750,Uncertain significance,1,90.84,S,-0.2367,0.3111,-8.8104,loss_of_function,-3.87996201194138,0.49432372844018047,0.9219708720529926,Pathogenic,0.7309,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78W,NP_000240:p.Glu78Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.23404,-0.28163,-0.7526751559252431,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.3484,0.3111,-22.0983,loss_of_function,-5.44405996364133,0.3012343192574787,0.9908707762280752,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E78Y,NP_000240:p.Glu78Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.80067,-1.34592,-0.293989531535001,Neutral,Neutral,False,0.11,,,,,,,Uncertain,Uncertain,Uncertain,53.5,,True,53.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.84,S,-0.3391,0.3111,-22.0983,loss_of_function,-5.44405996364133,0.3012343192574787,0.9669042731936984,Pathogenic,0.9755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79A,NP_000240:p.Arg79Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.71823,1.87721,1.8767398838718,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.4091,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9587580993435542,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79C,NP_000240:p.Arg79Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.00307,2.28946,2.422490761056555,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.418,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9866121631943304,Pathogenic,0.985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79D,NP_000240:p.Arg79Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.0127,2.20816,3.0586000091973964,Uncertain,Destabilizing,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.5002,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9884596382788916,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79E,NP_000240:p.Arg79Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.56954,3.0085,2.5784263209238905,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.4454,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9483298929200928,Pathogenic,0.9932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79F,NP_000240:p.Arg79Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.85591,0.9034,-0.3733894881878102,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,86.44,T,-0.4413,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9937984420644882,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79G,NP_000240:p.Arg79Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.2331,3.62755,3.3359129193589707,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1005917,Uncertain significance,2,86.44,T,-0.4445,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9947776984270228,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79H,NP_000240:p.Arg79His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.14782,2.19456,0.9751560412360416,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.3789,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9779851653287196,Pathogenic,0.9748,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79I,NP_000240:p.Arg79Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.34298,0.95476,0.780231009759045,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.4386,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9938006092652838,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79K,NP_000240:p.Arg79Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.6775,1.96565,2.327886041805918,Neutral,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,483597,Uncertain significance,2,86.44,T,-0.2994,0.0001,-22.0983,loss_of_function,-3.69833405147493,0.5167458763238276,0.8792710750431492,Pathogenic,0.9557,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79L,NP_000240:p.Arg79Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14544,0.66054,0.2633102579931617,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.4116,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.991189657586468,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79M,NP_000240:p.Arg79Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.65941,0.68741,0.7093832143510637,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.3774,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.995226999960476,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79N,NP_000240:p.Arg79Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.94356,2.7619,2.010937428940319,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.424,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.977815691999346,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79P,NP_000240:p.Arg79Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.00775,0.82143,3.320792348586826,Neutral,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.5512,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.8992779568099021,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79Q,NP_000240:p.Arg79Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.90628,1.75374,1.8241999108360163,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.3839,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9521949238335854,Pathogenic,0.9746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79S,NP_000240:p.Arg79Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10861,2.11565,2.457352632534927,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455422,Uncertain significance,2,86.44,T,-0.4097,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.929701316859589,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79T,NP_000240:p.Arg79Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.35898,1.62993,1.9803505559431207,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1436474,Uncertain significance,2,86.44,T,-0.414,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9838232238668798,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79V,NP_000240:p.Arg79Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.75419,1.43367,1.0726428196341955,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.44,T,-0.4256,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9944796199548918,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79W,NP_000240:p.Arg79Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.39298,1.74898,-0.5205869908378841,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,86.44,T,-0.4269,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.995203493136094,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R79Y,NP_000240:p.Arg79Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.89922,1.28469,-0.1837761361431894,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,21.2,,True,21.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,86.44,T,-0.4306,0.0001,-22.0983,loss_of_function,-7.12479349329448,0.09374613484961318,0.9934973332168608,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80A,NP_000240:p.Phe80Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.44213,1.27075,0.41540718059904,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.4088,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9929671242018228,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80C,NP_000240:p.Phe80Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10583,1.02143,0.9176620369993562,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.3769,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9919513350310164,Pathogenic,0.9778,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80D,NP_000240:p.Phe80Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.53804,1.38946,0.3433582337162916,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.5317,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.993854867310608,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80E,NP_000240:p.Phe80Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.23293,0.79286,0.2666313436716222,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.5011,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9915606368125996,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80G,NP_000240:p.Phe80Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.45701,-0.06429,0.6013950892348285,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.4441,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9915069781859042,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80H,NP_000240:p.Phe80His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.31246,0.3085,-0.1687841391589922,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.3437,0.4326,-3.9526,loss_of_function,-1.62673025993916,0.7724873736728518,0.5102104809538222,Uncertain,0.7795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80I,NP_000240:p.Phe80Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.67877,5.0085,0.7071865301782417,Destabilizing,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,2021902,Likely pathogenic,1,84.39,T,-0.3527,0.4326,-22.0983,loss_of_function,-5.24603043122535,0.3256812571064604,0.9932994138741444,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80K,NP_000240:p.Phe80Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39515,0.81939,-0.0915315227204788,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.508,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9919183127140118,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80L,NP_000240:p.Phe80Leu,"hg19,3:g.37042476T>C",,,0.931,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59989,0.64422,-0.1053662566318092,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.3148,0.4326,-22.0983,loss_of_function,-5.24603043122535,0.3256812571064604,0.992801867505528,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80M,NP_000240:p.Phe80Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.42334,0.92619,0.1259749677977678,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.3458,0.4326,-22.0983,loss_of_function,-5.24603043122535,0.3256812571064604,0.992728904268378,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80N,NP_000240:p.Phe80Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38202,0.33571,0.1455038270631115,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.4614,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9710989554946016,Pathogenic,0.988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80P,NP_000240:p.Phe80Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.54242,1.63367,4.971284199400181,Uncertain,Destabilizing,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.5321,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9925481845774966,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80Q,NP_000240:p.Phe80Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.90185,0.66122,0.3091638090615239,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.4635,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9929625998013988,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80R,NP_000240:p.Phe80Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38914,0.79184,-0.0901148080240543,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.5094,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9937767455653213,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80S,NP_000240:p.Phe80Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10123,1.24524,0.4857085291537261,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.3878,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9931452677915756,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80T,NP_000240:p.Phe80Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.69534,1.3398,0.7240905852840626,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.39,T,-0.434,0.4326,-22.0983,loss_of_function,-5.43520415974377,0.302327576838028,0.9918723491125924,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80V,NP_000240:p.Phe80Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.95481,4.72721,0.6804597624144062,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,90115,Likely pathogenic,3,84.39,T,-0.347,0.4326,-22.0983,loss_of_function,-5.24603043122535,0.3256812571064604,0.994614321482192,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80W,NP_000240:p.Phe80Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54402,0.64252,-0.3006321876763923,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.39,T,-0.3323,0.4326,-22.0983,loss_of_function,-2.90087604523351,0.6151928406624846,0.9520019377238204,Pathogenic,0.935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F80Y,NP_000240:p.Phe80Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.19685,0.28333,-0.0426052318247638,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,74.3,,True,74.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1061300,Uncertain significance,2,84.39,T,-0.2209,0.4326,-6.4886,loss_of_function,-1.99365335702138,0.727190361453067,0.7917092329579616,Pathogenic,0.673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81A,NP_000240:p.Thr81Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.31573,0.39898,0.7241226308271084,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,DOWN,neutral,neutral,neutral,187452,Uncertain significance,2,85.65,-,-0.2051,0.2983,-4.5626,loss_of_function,-1.81122211783557,0.749711674873733,0.5745298317463478,Uncertain,0.3875,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81C,NP_000240:p.Thr81Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.56369,-0.04796,0.8220304206361051,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,DOWN,neutral,neutral,neutral,,,,85.65,-,-0.2626,0.2983,-8.8104,loss_of_function,-2.91978131258742,0.6128589670711023,0.9627577362097408,Pathogenic,0.7004,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81D,NP_000240:p.Thr81Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.20359,1.31497,1.4397784178560726,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,85.65,-,-0.4102,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9933110292782644,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81E,NP_000240:p.Thr81Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.44904,1.26803,1.2600987896585498,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3855,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9926288533955112,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81F,NP_000240:p.Thr81Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.54072,-1.23639,-0.5941572136246226,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.4019,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9894714209148618,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81G,NP_000240:p.Thr81Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.27566,1.95306,2.034193632853042,Neutral,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,DOWN,neutral,neutral,neutral,,,,85.65,-,-0.3681,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9658421929448918,Pathogenic,0.9198,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81H,NP_000240:p.Thr81His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48887,0.09592,0.0742314191224097,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3822,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9818006040943676,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81I,NP_000240:p.Thr81Ile,"hg19,3:g.37042480C>T",6.38162093172e-05,7.955639355e-06,0.884,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.38256,-0.85612,-0.6662156004793857,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,135852,Uncertain significance,2,85.65,-,-0.3205,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9925610760688072,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81K,NP_000240:p.Thr81Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.24851,0.42177,0.7938077363896257,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3777,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9939713535449364,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81L,NP_000240:p.Thr81Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.14211,-0.42857,-0.4440593734636533,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3725,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9937111075125832,Pathogenic,0.8913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81M,NP_000240:p.Thr81Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.31446,0.38061,0.070454237282177,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3394,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9903140013313164,Pathogenic,0.8386,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81N,NP_000240:p.Thr81Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.62746,0.46939,0.5988297046859083,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,85.65,-,-0.3502,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9933088951617636,Pathogenic,0.9814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81P,NP_000240:p.Thr81Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.64529,6.57347,3.57195887706555,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,85.65,-,-0.3911,0.2983,-8.8104,loss_of_function,-6.14065707428286,0.2152387303073352,0.9945677654100078,Pathogenic,0.9673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81Q,NP_000240:p.Thr81Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0555,-0.1415,0.7377338221255955,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3597,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.992053518057452,Pathogenic,0.9832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81R,NP_000240:p.Thr81Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.05882,-0.53367,0.2305158519327049,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3806,0.2983,-22.0983,loss_of_function,-6.14065707428286,0.2152387303073352,0.9935283896024198,Pathogenic,0.9755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81S,NP_000240:p.Thr81Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.30908,0.86054,1.0881427293480683,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,,,DOWN,neutral,neutral,neutral,"934812, 233361","Uncertain significance, Uncertain significance","2, 2",85.65,-,-0.2584,0.2983,-22.0983,loss_of_function,-2.93986556201365,0.6103795469993774,0.8649731850036855,Pathogenic,0.7065,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81V,NP_000240:p.Thr81Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.86721,-1.07211,-0.6996538524462204,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3081,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9929497696489876,Pathogenic,0.9288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81W,NP_000240:p.Thr81Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.82813,-0.73265,-0.4408081534712027,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.3948,0.2983,-22.0983,loss_of_function,-5.9269182096854,0.24162500045087043,0.9939505792443196,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T81Y,NP_000240:p.Thr81Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.19343,-1.24558,-0.181320268980743,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,uncertain,,,UP,neutral,neutral,neutral,,,,85.65,-,-0.4033,0.2983,-22.0983,loss_of_function,-5.16296036128769,0.3359363378113454,0.98896252330715,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82A,NP_000240:p.Thr82Ala,"hg19,3:g.37042482A>G, hg38,3:g.37000991A>G",,7.955639355e-06,0.919,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09634,1.26939,0.8876064263513219,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,DOWN,neutral,mixed_effects,damaging,90116,Likely pathogenic,3,87.03,-,-0.3221,0.0001,-22.0983,loss_of_function,-4.28987737832988,0.4437192788755984,0.9935295312202506,Pathogenic,0.9816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82C,NP_000240:p.Thr82Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.34148,1.1915,1.2330146301517115,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,DOWN,neutral,mixed_effects,damaging,,,,87.03,-,-0.3579,0.0001,-22.0983,loss_of_function,-4.28987737832988,0.4437192788755984,0.9946941579838436,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82D,NP_000240:p.Thr82Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.38838,0.67857,1.2524474141730502,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,87.03,-,-0.4376,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9945018154987304,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82E,NP_000240:p.Thr82Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.81725,2.47075,1.2109674108131103,Uncertain,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.413,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.993887326382132,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82F,NP_000240:p.Thr82Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59742,1.85646,0.3929173865689972,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.4293,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9938060144871054,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82G,NP_000240:p.Thr82Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48677,2.56361,1.625756745853292,Uncertain,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,DOWN,neutral,mixed_effects,damaging,,,,87.03,-,-0.3955,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9933588931200604,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82H,NP_000240:p.Thr82His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.06591,2.49796,0.4503278322746079,Uncertain,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.4096,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9937676035955332,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82I,NP_000240:p.Thr82Ile,"hg19,3:g.37042483C>T",,,0.872,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.19267,-0.1,0.3112930268895814,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,90118,Pathogenic,3,87.03,-,-0.348,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9931098225953588,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82K,NP_000240:p.Thr82Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.3041,2.1017,0.925411599009304,Uncertain,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.4052,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9945334195181432,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82L,NP_000240:p.Thr82Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.08472,0.03367,0.2493689828003314,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.3999,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9878805190559002,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82M,NP_000240:p.Thr82Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.07765,-0.32619,0.6370628953624177,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.3668,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9940070342619052,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82N,NP_000240:p.Thr82Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.16326,1.23367,0.7322089027931888,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,87.03,-,-0.3777,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9938779503624752,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82P,NP_000240:p.Thr82Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.43256,2.14286,2.9747753983550105,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,87.03,-,-0.4864,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9940628615126694,Pathogenic,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82Q,NP_000240:p.Thr82Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4841,0.70374,1.1000818551668965,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.3871,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9941072852669932,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82R,NP_000240:p.Thr82Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24062,0.85646,0.5668141038827198,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.408,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9951964797509332,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82S,NP_000240:p.Thr82Ser,"hg38,3:g.37000992C>G",,,0.856,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.15213,0.37687,0.8761884912224727,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,neutral,,,DOWN,neutral,mixed_effects,damaging,853733,Conflicting classifications of pathogenicity,1,87.03,-,-0.2858,0.0001,-22.0983,loss_of_function,-4.28987737832988,0.4437192788755984,0.91366547861133,Pathogenic,0.9804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82V,NP_000240:p.Thr82Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.18115,0.14218,0.2788782080544982,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.3355,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9933174171275252,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82W,NP_000240:p.Thr82Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.0421,0.19558,0.1766226772598056,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.4222,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.9932234597371792,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T82Y,NP_000240:p.Thr82Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.20878,1.37585,0.4907344869130647,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,True,24.9,,uncertain,,,UP,neutral,neutral,damaging,,,,87.03,-,-0.4308,0.0001,-22.0983,loss_of_function,-7.12466398741071,0.09376212247657464,0.993229468114169,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83A,NP_000240:p.Ser83Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09566,1.46871,0.1079414819620555,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,86.01,S,-0.2777,0.0229,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9923416788906732,Pathogenic,0.9121,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83C,NP_000240:p.Ser83Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12308,1.56054,0.7737099008419085,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3281,0.0229,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9917629122547992,Pathogenic,0.9812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83D,NP_000240:p.Ser83Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.32377,-2.3415,-0.0742882026694791,Uncertain,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3763,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9829385928059432,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83E,NP_000240:p.Ser83Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59298,-1.5102,-0.0468814889151131,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3495,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9924697490581308,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83F,NP_000240:p.Ser83Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.01212,-0.13673,-0.3975542556459244,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3557,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9903067075568932,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83G,NP_000240:p.Ser83Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.19159,1.65272,0.619411639513531,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,DOWN,neutral,mixed_effects,damaging,937376,Uncertain significance,1,86.01,S,-0.2868,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9377742622619158,Pathogenic,0.9579,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83H,NP_000240:p.Ser83His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.49496,-0.9898,-0.4516559323823699,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3569,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9902968519553774,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83I,NP_000240:p.Ser83Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.41485,0.42279,-0.0718885255322021,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3588,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.990216091103893,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83K,NP_000240:p.Ser83Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59205,0.62653,-0.0230309269405709,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3663,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9891267640509386,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83L,NP_000240:p.Ser83Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.41086,0.40578,-0.5328556638804682,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3551,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9928273705485362,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83M,NP_000240:p.Ser83Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.00395,0.56599,-0.2646686983806195,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3262,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9916222278376892,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83N,NP_000240:p.Ser83Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08445,0.86667,-0.0419367915102902,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,662299,Uncertain significance,1,86.01,S,-0.3,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9340287997339836,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83P,NP_000240:p.Ser83Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33739,1.44728,1.2083041152848553,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.4311,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9905992619569542,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83Q,NP_000240:p.Ser83Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.04871,-0.7585,0.0506768606293134,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3196,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9915842226072398,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83R,NP_000240:p.Ser83Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.02693,-0.02075,-0.2601611610578908,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3715,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9792464723963132,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83T,NP_000240:p.Ser83Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.57145,-0.4398,0.0656119047094622,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,neutral,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.2005,0.0229,-8.8104,loss_of_function,-4.24191363304444,0.4496404497519425,0.9947699297195416,Pathogenic,0.9137,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83V,NP_000240:p.Ser83Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06874,0.57483,0.1081498402671565,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3331,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9918830545787513,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83W,NP_000240:p.Ser83Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01569,0.76871,-0.7260989652889849,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3654,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9915556648137274,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S83Y,NP_000240:p.Ser83Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.08559,-0.54252,-0.3009076468826505,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,100.9,,True,100.9,,uncertain,,,UP,neutral,neutral,damaging,,,,86.01,S,-0.3605,0.0229,-22.0983,loss_of_function,-7.04526147029026,0.10356444022895295,0.9920752191424824,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84A,NP_000240:p.Lys84Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.75318,1.26054,0.5569711763220442,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3197,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9928325063943596,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84C,NP_000240:p.Lys84Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.07097,1.16939,0.9633824284997076,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3899,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9930884519655891,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84D,NP_000240:p.Lys84Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.33038,1.67925,0.921773679102862,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.4287,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9919683737048808,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84E,NP_000240:p.Lys84Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.91774,1.3466,0.5925299626666358,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,90120,Likely pathogenic,3,81.32,S,-0.3446,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9900228617364624,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84F,NP_000240:p.Lys84Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02598,0.25442,-0.2491629322912253,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,81.32,S,-0.3908,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9915441438106624,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84G,NP_000240:p.Lys84Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.29193,2.63503,1.1125021900737126,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3789,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9915285545563798,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84H,NP_000240:p.Lys84His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.3916,0.97381,-0.023212971462273,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3297,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9911325916959192,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84I,NP_000240:p.Lys84Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.58136,-0.21361,0.2546858598098628,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,81.32,S,-0.358,0.0229,-22.0983,loss_of_function,-6.79979765419451,0.13386718640552495,0.992466756639626,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84L,NP_000240:p.Lys84Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14255,-0.26156,-0.327693356482755,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,81.32,S,-0.3567,0.0229,-22.0983,loss_of_function,-6.79979765419451,0.13386718640552495,0.9919017423569664,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84M,NP_000240:p.Lys84Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.87066,1.24932,-0.0139554572194833,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3297,0.0229,-22.0983,loss_of_function,-6.79979765419451,0.13386718640552495,0.992054386861162,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84N,NP_000240:p.Lys84Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.08129,1.10204,0.2919432700141966,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,2034168,Likely pathogenic,1,81.32,S,-0.3379,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9786408643238016,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84P,NP_000240:p.Lys84Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.6173,8.14218,3.0553499418784384,Destabilizing,Destabilizing,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.4262,0.0229,-8.8104,loss_of_function,-7.04500540078939,0.10359605225720156,0.9898921096361872,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84Q,NP_000240:p.Lys84Gln,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.36106,1.10306,0.4803443337998114,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,2772302,Likely pathogenic,1,81.32,S,-0.3189,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9918497054867784,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84R,NP_000240:p.Lys84Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.7384,0.42755,-0.1116472618453168,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,81.32,S,-0.2533,0.0229,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9917777021607562,Pathogenic,0.8192,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84S,NP_000240:p.Lys84Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.53454,1.43095,0.871476227860386,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3298,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.978202537647799,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84T,NP_000240:p.Lys84Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.28739,0.88707,0.6469759471270686,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3417,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9918464185595056,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84V,NP_000240:p.Lys84Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.14257,0.00204,0.3791006513165623,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,DOWN,destabilizing,destabilizing,damaging,,,,81.32,S,-0.3419,0.0229,-22.0983,loss_of_function,-6.79979765419451,0.13386718640552495,0.9923655048886488,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84W,NP_000240:p.Lys84Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.19465,1.1949,-0.3546718735099408,Uncertain,Uncertain,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,81.32,S,-0.3998,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9915266770996028,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K84Y,NP_000240:p.Lys84Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.63883,0.07381,-0.1001316321120432,Neutral,Neutral,False,0.037,,,,,,,Uncertain,Uncertain,Uncertain,23.4,,True,23.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,81.32,S,-0.3757,0.0229,-22.0983,loss_of_function,-7.04500540078939,0.10359605225720156,0.9922294293406516,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85A,NP_000240:p.Leu85Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.63896,2.65102,3.1046554070805565,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.3781,0.4416,-22.0951,loss_of_function,-5.7775424842653,0.26006557863605156,0.9851631870181684,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85C,NP_000240:p.Leu85Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.85454,2.17891,3.147396689376228,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.3674,0.4416,-22.0951,loss_of_function,-5.7775424842653,0.26006557863605156,0.984171355286474,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85D,NP_000240:p.Leu85Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.51955,3.51259,4.446630978556424,Destabilizing,Destabilizing,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.4997,0.4416,-22.0951,loss_of_function,-5.86725326173867,0.24899069614494737,0.985379073149718,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85E,NP_000240:p.Leu85Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.43262,3.40986,4.047389938815278,Destabilizing,Destabilizing,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.4677,0.4416,-22.0951,loss_of_function,-5.86725326173867,0.24899069614494737,0.986043414649432,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85F,NP_000240:p.Leu85Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.15962,-0.38163,1.864706097801521,Neutral,Neutral,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.44,-,-0.3116,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9886696397452642,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85G,NP_000240:p.Leu85Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.20479,3.84184,4.7735434568705095,Destabilizing,Destabilizing,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.453,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.987745774089996,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85H,NP_000240:p.Leu85His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.51295,1.42653,2.770311810297642,Neutral,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.4205,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9879762676301448,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85I,NP_000240:p.Leu85Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.76546,0.40884,1.3626762445944698,Neutral,Neutral,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,77.44,-,-0.1571,0.4416,-3.4498,loss_of_function,-2.27314277126663,0.6926871221829299,0.2137461347755655,Benign,0.4347,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85K,NP_000240:p.Leu85Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.66111,2.52007,4.404270952407056,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,77.44,-,-0.4667,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9866958197244168,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85M,NP_000240:p.Leu85Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.42236,0.58435,1.7082977361424223,Neutral,Neutral,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,77.44,-,-0.2755,0.4416,-22.0951,loss_of_function,-3.73925358245301,0.511694320536031,0.9210891530633516,Pathogenic,0.859,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85N,NP_000240:p.Leu85Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.83873,2.56871,3.0238450189104715,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.446,0.4416,-22.0951,loss_of_function,-4.58512659003045,0.4072704773239051,0.9347534598709472,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85P,NP_000240:p.Leu85Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.94217,6.15884,7.307480351763256,Destabilizing,Destabilizing,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.4615,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9838891133039902,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85Q,NP_000240:p.Leu85Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.90729,2.35544,2.9478884544974293,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.3989,0.4416,-22.0951,loss_of_function,-5.86725326173867,0.24899069614494737,0.9894436830685698,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85R,NP_000240:p.Leu85Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.04202,2.00272,3.5254205891271218,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1792941,Uncertain significance,2,77.44,-,-0.4583,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9841240692561742,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85S,NP_000240:p.Leu85Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.79976,2.83639,3.9210907852126655,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.4085,0.4416,-22.0951,loss_of_function,-5.30053485790969,0.31895263276750335,0.9787111757699845,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85T,NP_000240:p.Leu85Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.9516,1.82959,3.0593654393440133,Neutral,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,77.44,-,-0.3813,0.4416,-22.0951,loss_of_function,-5.7775424842653,0.26006557863605156,0.9881651832136622,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85V,NP_000240:p.Leu85Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.25957,0.92177,1.4825335288787618,Neutral,Neutral,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,928798,Uncertain significance,2,77.44,-,-0.2885,0.4416,-22.0951,loss_of_function,-3.73925358245301,0.511694320536031,0.7504242815959892,Pathogenic,0.8681,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85W,NP_000240:p.Leu85Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.0337,1.34388,3.0932956712178807,Uncertain,Destabilizing,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.44,-,-0.4107,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.984916536082362,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L85Y,NP_000240:p.Leu85Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.92539,-0.11361,2.876573055014889,Uncertain,Uncertain,False,0.042,,,,,,,,,,16.4,,True,16.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.44,-,-0.4036,0.4416,-22.0951,loss_of_function,-6.20984451783693,0.20669747329450092,0.9888495961484436,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86A,NP_000240:p.Gln86Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.63197,0.55204,-0.169182497783551,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0014,2.3698,-6.4854,loss_of_function,-1.48267908483652,0.7902706309569701,0.0539227693868034,Benign,0.2033,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86C,NP_000240:p.Gln86Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.02854,0.8619,0.2563898477620618,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0544,2.3698,-7.8073,loss_of_function,-1.44361518353074,0.7950931074619144,0.1335047030363977,Benign,0.4243,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86D,NP_000240:p.Gln86Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.80543,-0.02619,-0.5096019247075456,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0998,2.3698,-8.8072,loss_of_function,-1.95152749761417,0.7323908396554784,0.2372764148236283,Benign,0.5062,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86E,NP_000240:p.Gln86Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.76949,0.00986,-0.470292281962843,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,483561,Uncertain significance,2,74.84,S,-0.0008,2.3698,-5.3479,loss_of_function,-0.642892208329847,0.8939431353853673,0.0018716619495036,Benign,0.1126,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86F,NP_000240:p.Gln86Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.09959,-0.02517,-0.4646153930128771,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.1353,2.3698,-22.0951,loss_of_function,-3.18409190480111,0.5802295681029602,0.5660927434518901,Uncertain,0.7353,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86G,NP_000240:p.Gln86Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.06363,0.98741,0.1436797403081846,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0839,2.3698,-8.8072,loss_of_function,-3.72862832984901,0.513006018275609,0.349388446656014,Uncertain,0.2532,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86H,NP_000240:p.Gln86His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.10269,-0.04218,-0.6931857338803538,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.0144,2.3698,-8.8072,loss_of_function,-0.894568607291395,0.8628734398283222,0.3964200085652067,Uncertain,0.1941,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86I,NP_000240:p.Gln86Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.87086,-0.02789,-0.4798368872628733,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.1167,2.3698,-22.0951,loss_of_function,-2.57649223922089,0.6552383361401415,0.2960069379378077,Benign,0.4536,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86K,NP_000240:p.Gln86Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.38238,-0.19422,-0.5026723218367962,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.0149,2.3698,-2.6175,loss_of_function,-0.119293028736466,0.9585819619539658,0.0003837237031996,Benign,0.0805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86L,NP_000240:p.Gln86Leu,"hg38,3:g.37001004A>T",,,0.753,"COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.0712,-0.02245,-0.7876642993704008,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.1,2.3698,-22.0951,loss_of_function,-2.69258105693903,0.6409070589963082,0.2708033549300498,Benign,0.1583,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86M,NP_000240:p.Gln86Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.0865,0.61667,-0.4385574872863618,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.0032,2.3698,-8.8072,loss_of_function,-1.47773973360405,0.7908803986573798,0.2878401790147532,Benign,0.3954,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86N,NP_000240:p.Gln86Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.2997,-0.00068,-0.550641114257322,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0209,2.3698,-7.2224,loss_of_function,-1.48621175107791,0.7898345198830772,0.0131450653265157,Benign,0.3422,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86P,NP_000240:p.Gln86Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.95593,1.3602,1.3078594861143331,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.2547,2.3698,-22.0951,loss_of_function,-3.72862832984901,0.513006018275609,0.5139058597379419,Uncertain,0.6598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86R,NP_000240:p.Gln86Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.33069,0.18129,-0.6802937044157914,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,920034,Uncertain significance,2,74.84,S,-0.0156,2.3698,-3.0525,loss_of_function,-0.596885236491124,0.8996227406818063,0.0008833283558043,Benign,0.0873,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86S,NP_000240:p.Gln86Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.29075,-0.51395,-0.282947724370739,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0027,2.3698,-3.1349,loss_of_function,-0.852507291243757,0.8680659500903927,0.0011121146419415,Benign,0.2248,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86T,NP_000240:p.Gln86Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.21582,-0.86224,-0.3592909058270699,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,74.84,S,-0.0143,2.3698,-3.4498,loss_of_function,-0.816549112505003,0.8725050221321442,0.0010334902931431,Benign,0.168,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86V,NP_000240:p.Gln86Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.79417,0.4966,-0.4392783463180516,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,74.84,S,-0.049,2.3698,-8.8072,loss_of_function,-2.21079533329964,0.7003839738718008,0.0176331294069434,Benign,0.2802,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86W,NP_000240:p.Gln86Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.2189,0.32483,-0.6816464332454336,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.1347,2.3698,-22.0951,loss_of_function,-3.18409190480111,0.5802295681029602,0.6611905985311103,Uncertain,0.6261,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q86Y,NP_000240:p.Gln86Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.12651,-0.13503,-0.4194064422722282,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,103.3,,True,103.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.84,S,-0.1376,2.3698,-22.0951,loss_of_function,-3.18409190480111,0.5802295681029602,0.300325924728264,Benign,0.5305,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87A,NP_000240:p.Ser87Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.19487,0.33912,0.6222456534712412,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,-,uncertain,uncertain,neutral,3071173,Uncertain significance,1,72.7,S,0.072,2.7976,-3.6011,gain_of_function,-0.391622905481478,0.9249625745323911,0.0001974887541918,Benign,0.0692,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87C,NP_000240:p.Ser87Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22633,0.10136,1.0407876723185232,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,853777,Uncertain significance,1,72.7,S,0.0031,2.7976,-7.2256,gain_of_function,-0.0807783524912367,0.9633366360924824,0.0156784790843766,Benign,0.0626,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87D,NP_000240:p.Ser87Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.24932,-0.3568,0.6928559855119001,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0356,2.7976,-5.3511,loss_of_function,-1.08662987050018,0.8391632906016951,0.0008392206828975,Benign,0.192,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87E,NP_000240:p.Ser87Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.98734,0.46293,0.7071536612650672,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0002,2.7976,-3.6813,loss_of_function,-0.920864571487117,0.8596271775434552,1.3473002864158644e-05,Benign,0.2532,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87F,NP_000240:p.Ser87Phe,"hg19,3:g.37042498C>T",,,0.664,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.34335,0.11599,0.3276890923347769,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,1904297,Uncertain significance,1,72.7,S,-0.1004,2.7976,-22.0983,loss_of_function,-2.36416367159903,0.6814505037541678,0.1782704690957245,Benign,0.2119,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87G,NP_000240:p.Ser87Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.13616,0.80102,1.065322159034648,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,DOWN,neutral,neutral,neutral,,,,72.7,S,-0.0315,2.7976,-22.0983,loss_of_function,-2.76987982246788,0.6313644514183775,0.0389225556337315,Benign,0.0816,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87H,NP_000240:p.Ser87His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35391,0.14252,0.1670077809369213,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0236,2.7976,-6.8105,loss_of_function,-1.72122002347811,0.7608225207167314,0.0042565308921607,Benign,0.1529,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87I,NP_000240:p.Ser87Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.72302,-0.03605,0.491357373148788,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.1035,2.7976,-22.0983,loss_of_function,-1.83583444024628,0.7466732598002185,0.0839072796405213,Benign,0.2056,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87K,NP_000240:p.Ser87Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.14381,-0.31361,0.374323672586026,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0085,2.7976,-2.0162,loss_of_function,-0.274718398776312,0.9393945492728235,2.229507173673202e-06,Benign,0.222,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87L,NP_000240:p.Ser87Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.28914,0.07755,0.1434363413727224,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0269,2.7976,-7.8105,loss_of_function,-1.76983498979036,0.7548209559729971,0.0229773600180667,Benign,0.1016,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87M,NP_000240:p.Ser87Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.67493,0.65,0.3780041498690062,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0708,2.7976,-22.0983,loss_of_function,-2.04775816888048,0.7205110699518792,0.0697285312010368,Benign,0.1453,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87N,NP_000240:p.Ser87Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02366,0.08265,0.3520621868475948,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,0.0401,2.7976,-5.4886,gain_of_function,-1.16072736502573,0.8300158830340892,0.000326255904359,Benign,0.0761,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87P,NP_000240:p.Ser87Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.76501,5.41293,3.725081151634056,Destabilizing,Destabilizing,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,1793629,Uncertain significance,1,72.7,S,-0.1758,2.7976,-22.0983,loss_of_function,-2.76987982246788,0.6313644514183775,0.3126495878869451,Benign,0.8337,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87Q,NP_000240:p.Ser87Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13081,0.08605,0.5984507885348617,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,0.0269,2.7976,-4.2256,gain_of_function,-0.73336945021697,0.8827736321189783,0.0001551567359922,Benign,0.2114,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87R,NP_000240:p.Ser87Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06929,0.1534,0.1427637815348065,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0341,2.7976,-6.0032,loss_of_function,-0.781655864349611,0.8768126274604852,0.0006871908864484,Benign,0.2155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87T,NP_000240:p.Ser87Thr,"hg19,3:g.37042497T>A",,,0.581,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.83912,-0.64422,0.6107090209080565,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,neutral,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,0.0897,2.7976,-1.9651,gain_of_function,-0.0495438257571445,0.9671925687127076,0.000201116363766,Benign,0.0588,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87V,NP_000240:p.Ser87Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.99476,-0.26293,0.4701973670594161,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.0049,2.7976,-7.8105,loss_of_function,-1.66049662021517,0.7683188837462083,0.0024742577490185,Benign,0.1633,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87W,NP_000240:p.Ser87Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35445,0.87959,0.0821132614455555,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.1101,2.7976,-22.0983,loss_of_function,-2.36416367159903,0.6814505037541678,0.2615442185521214,Benign,0.367,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S87Y,NP_000240:p.Ser87Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24702,-0.04422,0.3677331798644762,Neutral,Neutral,False,0.049,,,,,,,Uncertain,Uncertain,Uncertain,56.2,P,True,56.2,1.175,uncertain,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,72.7,S,-0.1052,2.7976,-22.0983,loss_of_function,-2.36416367159903,0.6814505037541678,0.0705659047427666,Benign,0.1625,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88A,NP_000240:p.Phe88Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.10451,0.27007,0.5260489593554368,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.4094,0.4255,-22.0983,loss_of_function,-4.19938079431486,0.45489116994643664,0.9517562946462248,Pathogenic,0.9861,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88C,NP_000240:p.Phe88Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.30008,1.27483,1.2821947678121166,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.3776,0.4255,-22.0983,loss_of_function,-4.52656849697881,0.4144995307076256,0.9963940350948132,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88D,NP_000240:p.Phe88Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.21607,0.10782,0.2869635101441065,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.5324,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9496567436202998,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88E,NP_000240:p.Phe88Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.17755,-0.02721,0.1010816814512149,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.5018,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9607728830559156,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88G,NP_000240:p.Phe88Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.262,1.06701,1.1115710781891115,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.4448,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9657659919208436,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88H,NP_000240:p.Phe88His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39353,0.40714,0.1091610067291953,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.437,0.4255,-22.0983,loss_of_function,-2.9752792854381,0.6060076884942531,0.9822726508494732,Pathogenic,0.9815,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88I,NP_000240:p.Phe88Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.04864,0.2381,0.338874720296955,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.2855,0.4255,-8.8104,loss_of_function,-3.9463216252428,0.48613156981479677,0.7296656456662907,Pathogenic,0.9649,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88K,NP_000240:p.Phe88Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.33608,0.17789,0.2320902426946158,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.5086,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9698172158410232,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88L,NP_000240:p.Phe88Leu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.15414,-0.01973,0.0989115606654916,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,3230778,Uncertain significance,1,67.9,S,-0.3155,0.4255,-22.0983,loss_of_function,-3.89798185594427,0.492099161220269,0.8746831188739543,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88M,NP_000240:p.Phe88Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.34483,-0.24252,0.3848941565645553,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.3465,0.4255,-22.0983,loss_of_function,-4.03852954740874,0.4747484123893714,0.9655573818847716,Pathogenic,0.9697,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88N,NP_000240:p.Phe88Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.09138,0.20374,0.501302806421885,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.462,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9804020768807212,Pathogenic,0.9893,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88P,NP_000240:p.Phe88Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.56734,0.35714,1.8199730751117749,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.5328,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9789706444984538,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88Q,NP_000240:p.Phe88Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.73368,0.17721,0.5077982073870929,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.4641,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.9637793841020752,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88R,NP_000240:p.Phe88Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.23547,0.2085,0.2274530512491479,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.51,0.4255,-22.0983,loss_of_function,-5.56607158989068,0.28617186565583413,0.978517400720544,Pathogenic,0.9862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88S,NP_000240:p.Phe88Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.18759,0.44422,0.5754589598964579,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.3884,0.4255,-22.0983,loss_of_function,-4.52656849697881,0.4144995307076256,0.957898597103214,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88T,NP_000240:p.Phe88Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17967,0.25306,0.5447782602952236,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.4347,0.4255,-22.0983,loss_of_function,-3.77242888708878,0.5075987970014502,0.9752105292018364,Pathogenic,0.9901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88V,NP_000240:p.Phe88Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.20007,0.33095,0.3697838750560406,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,67.9,S,-0.3477,0.4255,-22.0983,loss_of_function,-3.52515588460149,0.5381248889928185,0.9393892825308608,Pathogenic,0.9463,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88W,NP_000240:p.Phe88Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.16303,0.05,-0.2911894029196754,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,67.9,S,-0.333,0.4255,-22.0983,loss_of_function,-3.35650289507519,0.5589452641292582,0.9871280227580166,Pathogenic,0.8776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F88Y,NP_000240:p.Phe88Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06296,-0.09898,0.1346175739350735,Neutral,Neutral,False,0.07,,,,,,,Uncertain,Uncertain,Uncertain,97.6,,True,97.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,67.9,S,-0.2071,0.4255,-3.6406,loss_of_function,-1.6102686737738,0.7745195724513394,0.1244340608691737,Benign,0.4418,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89A,NP_000240:p.Glu89Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.43817,0.08707,0.6148825669281871,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.126,1.283,-7.2256,loss_of_function,-3.01486301271026,0.6011210389695713,0.4919721942249844,Uncertain,0.2595,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89C,NP_000240:p.Glu89Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.0117,1.11769,1.3212377291463484,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.2712,1.283,-22.0983,loss_of_function,-4.28094534990877,0.4448219464475115,0.9466330661093276,Pathogenic,0.8941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89D,NP_000240:p.Glu89Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14566,-0.05884,0.219162424457539,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1794675,Uncertain significance,1,70.65,G,-0.0698,1.283,-2.9279,loss_of_function,-0.502199600222673,0.9113117743163639,0.0086549324744385,Benign,0.1409,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89F,NP_000240:p.Glu89Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48557,0.46224,0.2792012050003284,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2489,1.283,-22.0983,loss_of_function,-5.41959830141888,0.3042541351846245,0.898570895333024,Pathogenic,0.9605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89G,NP_000240:p.Glu89Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.81879,0.76361,1.1346439208855446,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,568777,Uncertain significance,2,70.65,G,-0.1547,1.283,-7.8105,loss_of_function,-3.63530675976609,0.5245266566165318,0.044184605542138,Benign,0.2703,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89H,NP_000240:p.Glu89His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.89638,0.4949,0.2380735254500732,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2402,1.283,-22.0983,loss_of_function,-4.9322469630704,0.3644181305941392,0.7318271238879075,Pathogenic,0.5829,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89I,NP_000240:p.Glu89Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6811,0.73367,0.2547315453801324,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2542,1.283,-22.0983,loss_of_function,-5.7372290863186,0.26504230671322554,0.9469326660076092,Pathogenic,0.798,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89K,NP_000240:p.Glu89Lys,"hg38,3:g.37001012G>A",,,0.798,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.43147,0.08912,0.4352047366410072,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,853575,Uncertain significance,1,70.65,G,-0.1459,1.283,-6.8105,loss_of_function,-3.66374984441993,0.521015330228581,0.2208388544166724,Benign,0.3182,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89L,NP_000240:p.Glu89Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22426,0.13469,0.1219423470903602,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2564,1.283,-22.0983,loss_of_function,-5.7372290863186,0.26504230671322554,0.9009585950184508,Pathogenic,0.7721,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89M,NP_000240:p.Glu89Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29248,0.40748,0.4744573646961797,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2052,1.283,-22.0983,loss_of_function,-5.7372290863186,0.26504230671322554,0.9524913770945468,Pathogenic,0.8013,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89N,NP_000240:p.Glu89Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.60355,0.04864,0.5023756240249228,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.1471,1.283,-6.2256,loss_of_function,-1.83077205733035,0.7472982158812819,0.0679696240195899,Benign,0.3115,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89P,NP_000240:p.Glu89Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46065,3.60578,1.9084025500043205,Uncertain,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.3589,1.283,-22.0983,loss_of_function,-5.7372290863186,0.26504230671322554,0.953239692118443,Pathogenic,0.9159,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89Q,NP_000240:p.Glu89Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.21859,0.36871,0.5822035989365179,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.0985,1.283,-7.2256,loss_of_function,-2.57636735054829,0.6552537537679056,0.5794849476307249,Uncertain,0.1954,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89R,NP_000240:p.Glu89Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.26222,0.50918,0.3785807337474506,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2844,1.283,-22.0983,loss_of_function,-4.91809044428507,0.36616576656883765,0.7069464074143892,Pathogenic,0.4741,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89S,NP_000240:p.Glu89Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39309,-0.04762,0.6505792688109763,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.1222,1.283,-3.8564,loss_of_function,-2.85771382129042,0.6205212590720378,0.109251241561053,Benign,0.2239,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89T,NP_000240:p.Glu89Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56121,0.29014,0.5928653133828085,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,70.65,G,-0.1553,1.283,-7.2256,loss_of_function,-2.99774990323888,0.6032336689321106,0.3659762982996787,Uncertain,0.3785,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89V,NP_000240:p.Glu89Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.98337,0.65442,0.4236733292209094,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,70.65,G,-0.2151,1.283,-22.0983,loss_of_function,-5.7372290863186,0.26504230671322554,0.9047000255206232,Pathogenic,0.5761,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89W,NP_000240:p.Glu89Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.75768,0.25544,-0.1652574031404713,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2589,1.283,-22.0983,loss_of_function,-5.41959830141888,0.3042541351846245,0.9687265578563884,Pathogenic,0.9768,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E89Y,NP_000240:p.Glu89Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.63644,0.29388,0.2908883113391486,Neutral,Neutral,False,0.038,,,,,,,Uncertain,Uncertain,Uncertain,101.2,,True,101.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,70.65,G,-0.2497,1.283,-22.0983,loss_of_function,-5.41959830141888,0.3042541351846245,0.5815894624637226,Uncertain,0.8786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90A,NP_000240:p.Asp90Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59496,1.41497,0.3391138356719941,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,69.36,G,-0.3405,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9486494393129848,Pathogenic,0.9442,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90C,NP_000240:p.Asp90Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.59346,2.03299,1.056981815047074,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,69.36,G,-0.382,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9881798552247678,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90E,NP_000240:p.Asp90Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0328,2.37007,0.20821579280206,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.2096,0.0808,-7.2256,loss_of_function,-0.874070481212435,0.8654039533742528,0.3692121866833007,Uncertain,0.9267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90F,NP_000240:p.Asp90Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.91263,2.60748,-0.0512853844251387,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4407,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9891537927881242,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90G,NP_000240:p.Asp90Gly,,,,,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.36576,2.59354,1.0327013992650815,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1021372,Uncertain significance,1,69.36,G,-0.3517,0.0808,-22.0983,loss_of_function,-5.72657205918082,0.2663579270498173,0.9423594020581008,Pathogenic,0.9309,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90H,NP_000240:p.Asp90His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.95111,1.81837,-0.0660198513830839,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.3499,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9886385948853238,Pathogenic,0.9608,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90I,NP_000240:p.Asp90Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.8477,3.87891,0.5151788659348807,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4329,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9900085101255364,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90K,NP_000240:p.Asp90Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.0256,2.77313,0.2621981127672901,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4113,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9904807634222632,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90L,NP_000240:p.Asp90Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47155,1.86361,-0.3115913176931301,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4265,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9886905714674172,Pathogenic,0.9882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90M,NP_000240:p.Asp90Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.43847,1.72925,0.0060156453988302,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.3653,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9900961125207712,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90N,NP_000240:p.Asp90Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.93268,1.43265,0.1025646290370646,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2049560,Uncertain significance,2,69.36,G,-0.3072,0.0808,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9659642977994588,Pathogenic,0.8078,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90P,NP_000240:p.Asp90Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39649,7.86871,6.064333275595099,Uncertain,Uncertain,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,69.36,G,-0.4775,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9881716014887304,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90Q,NP_000240:p.Asp90Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52112,2.72925,0.3170083158156322,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.3675,0.0808,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.8803109096480747,Pathogenic,0.9784,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90R,NP_000240:p.Asp90Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17998,2.4915,-0.0515045465605112,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4423,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9887470463185396,Pathogenic,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90S,NP_000240:p.Asp90Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.7295,1.02211,0.7139349767133137,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,69.36,G,-0.2791,0.0808,-8.8104,loss_of_function,-7.04385078870368,0.10373859023906044,0.955866837226228,Pathogenic,0.8972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90T,NP_000240:p.Asp90Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.2147,1.57687,0.6610229480598031,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,69.36,G,-0.377,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9816356168156254,Pathogenic,0.9825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90V,NP_000240:p.Asp90Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.86231,2.69558,0.5452048319628319,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.3876,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9916759583779976,Pathogenic,0.9726,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90W,NP_000240:p.Asp90Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.31576,1.88299,-0.5698199163858647,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.4211,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9899402266070264,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D90Y,NP_000240:p.Asp90Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.05336,1.87585,0.1212898499392639,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,True,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,69.36,G,-0.3855,0.0808,-22.0983,loss_of_function,-7.04385078870368,0.10373859023906044,0.9920008659175096,Pathogenic,0.9494,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91A,NP_000240:p.Leu91Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.42822,1.28299,1.7357870505398825,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4167,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9946507869246226,Pathogenic,0.9851,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91C,NP_000240:p.Leu91Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.52768,1.27075,2.2161801907999745,Neutral,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4059,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9950442836554706,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91D,NP_000240:p.Leu91Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.4264,2.58912,1.9248302038335496,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.5382,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9958427861093946,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91E,NP_000240:p.Leu91Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.10811,1.49558,1.656848945701919,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.5063,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9946892998457646,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91F,NP_000240:p.Leu91Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.10624,0.05612,0.7934017437991947,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,64.41,G,-0.3501,0.0229,-22.0983,loss_of_function,-6.06619062183813,0.2244316860879224,0.9233481825981712,Pathogenic,0.9786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91G,NP_000240:p.Leu91Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.26743,2.95918,2.600985653606711,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4915,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.994769220153644,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91H,NP_000240:p.Leu91His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.27731,0.83776,1.1383048166386878,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4591,0.0229,-22.0983,loss_of_function,-6.47500965902553,0.17396257942656457,0.9940817443332318,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91I,NP_000240:p.Leu91Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.25929,0.07381,0.7694703285037748,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,64.41,G,-0.223,0.0229,-8.8104,loss_of_function,-3.2843472249021,0.5678529515971441,0.8542816831050146,Pathogenic,0.7874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91K,NP_000240:p.Leu91Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22412,1.18741,1.4922310004480484,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,64.41,G,-0.5053,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9947017028812796,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91M,NP_000240:p.Leu91Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.05466,0.0051,0.8757133411927953,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,64.41,G,-0.3141,0.0229,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9880038010602205,Pathogenic,0.8692,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91N,NP_000240:p.Leu91Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.82131,1.32143,1.6423241464160083,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4845,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9940263334092628,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91P,NP_000240:p.Leu91Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.01751,11.04524,6.347551518282237,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.5001,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9951534834309496,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91Q,NP_000240:p.Leu91Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.58221,0.89932,1.6890630866137657,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4374,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9949056444309474,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91R,NP_000240:p.Leu91Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.36399,0.91361,1.0152085345036548,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,64.41,G,-0.4969,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9949380615091395,Pathogenic,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91S,NP_000240:p.Leu91Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.81337,1.80952,2.0396108234326427,Neutral,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4471,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9949365297025772,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91T,NP_000240:p.Leu91Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.23102,1.10136,1.66521047061477,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.4198,0.0229,-22.0983,loss_of_function,-7.04436441492822,0.10367518258346617,0.9953771979777556,Pathogenic,0.9791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91V,NP_000240:p.Leu91Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.57892,0.58027,1.1106288766664218,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,64.41,G,-0.3271,0.0229,-22.0983,loss_of_function,-4.24191363304444,0.4496404497519425,0.9810916623346566,Pathogenic,0.8912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91W,NP_000240:p.Leu91Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.49542,0.32857,0.4807813180703552,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,64.41,G,-0.4493,0.0229,-22.0983,loss_of_function,-6.47500965902553,0.17396257942656457,0.9944927985354572,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L91Y,NP_000240:p.Leu91Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.57654,-0.31156,1.0506504879249934,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,64.41,G,-0.4422,0.0229,-22.0983,loss_of_function,-6.47500965902553,0.17396257942656457,0.9941646268035668,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92C,NP_000240:p.Ala92Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.26774,0.37823,0.666693894424048,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0008,2.8929,-7.8105,loss_of_function,-1.09602116252332,0.8380039264926639,0.0208527552163427,Benign,0.342,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92D,NP_000240:p.Ala92Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06021,0.92211,-0.023517096497157,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0825,2.8929,-7.8105,loss_of_function,-1.18309675623856,0.8272543599924105,0.0122663187178635,Benign,0.3097,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92E,NP_000240:p.Ala92Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01801,0.71224,-0.0968116218285619,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0516,2.8929,-4.5626,loss_of_function,-1.12533458901047,0.8343851555612316,0.0009643798756707,Benign,0.2375,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92F,NP_000240:p.Ala92Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.75397,0.0898,-0.3860984085415225,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.056,2.8929,-8.8104,loss_of_function,-1.86278176508278,0.7433465864124815,0.0184684333943385,Benign,0.3679,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92G,NP_000240:p.Ala92Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.21713,0.93503,0.4500845735227815,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,60.68,G,0.0159,2.8929,-5.8106,gain_of_function,-1.2227367128074,0.8223607689065155,0.0004713773507842,Benign,0.1176,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92H,NP_000240:p.Ala92His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.30534,0.47279,-0.4144560412764525,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0483,2.8929,-6.4886,loss_of_function,-1.3149640319281,0.8109752169082116,0.0011030916303456,Benign,0.3805,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92I,NP_000240:p.Ala92Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3324,0.7949,-0.2923980173570961,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.1133,2.8929,-22.0983,loss_of_function,-2.12788334990838,0.710619538639202,0.0325630230359506,Benign,0.2967,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92K,NP_000240:p.Ala92Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.47991,-0.20306,-0.1622735309147638,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0531,2.8929,-3.9526,loss_of_function,-1.07777532214844,0.8402563931838952,0.0001361384278173,Benign,0.3884,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92L,NP_000240:p.Ala92Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.54371,0.89796,-0.7019502499967017,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0401,2.8929,-6.8105,loss_of_function,-1.53824174699303,0.783411366422573,0.0028233888583144,Benign,0.1794,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92M,NP_000240:p.Ala92Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.6466,0.54932,-0.2984548861907321,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0009,2.8929,-7.2256,loss_of_function,-1.60249257800569,0.7754795390160807,0.0021668182129229,Benign,0.2097,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92N,NP_000240:p.Ala92Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00843,0.33197,-0.1276855450924263,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0367,2.8929,-4.6406,loss_of_function,-0.4411749132389,0.9188453311133978,2.69545545756054e-05,Benign,0.1894,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92P,NP_000240:p.Ala92Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.1342,6.82517,3.936810821148827,Uncertain,Uncertain,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.1951,2.8929,-22.0983,loss_of_function,-2.78628467984548,0.6293392558637612,0.0260106814304442,Benign,0.6885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92Q,NP_000240:p.Ala92Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08998,0.42619,0.0436802977157613,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0279,2.8929,-3.4183,loss_of_function,-0.908769608127447,0.8611203125013183,1.598069719744582e-05,Benign,0.2411,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92R,NP_000240:p.Ala92Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.2448,0.32925,-0.4605167338146093,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0673,2.8929,-4.6406,loss_of_function,-1.17815189131039,0.827864808363902,0.0001184110683702,Benign,0.3575,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92S,NP_000240:p.Ala92Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.60238,0.11395,0.0946822748325942,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,60.68,G,0.0662,2.8929,-1.6011,gain_of_function,-0.0459680682882421,0.9676339994404319,9.995435800283517e-06,Benign,0.0681,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92T,NP_000240:p.Ala92Thr,"hg19,3:g.37042512G>A, hg38,3:g.37001021G>A",,7.9555760633e-06,0.538,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07875,0.48401,-0.0026288028343907,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2054456,Uncertain significance,1,60.68,G,0.0521,2.8929,-3.1959,gain_of_function,-0.0485051245338479,0.9673207973861776,1.2219469731333646e-05,Benign,0.0736,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92V,NP_000240:p.Ala92Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.058,0.63265,-0.1475418557668545,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1055509,Uncertain significance,2,60.68,G,-0.0414,2.8929,-22.0983,loss_of_function,-2.04969074305309,0.7202724917958336,0.0267336420028516,Benign,0.1419,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92W,NP_000240:p.Ala92Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.43916,-0.06531,-0.739822798145624,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.1347,2.8929,-22.0983,loss_of_function,-1.88847783123575,0.7401743821228435,0.0270570753960851,Benign,0.7418,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A92Y,NP_000240:p.Ala92Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.483,-0.12891,-0.2966406714921704,Neutral,Neutral,False,0.069,,,,,,,Uncertain,Uncertain,Uncertain,74.5,,True,74.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,60.68,G,-0.0752,2.8929,-8.8104,loss_of_function,-1.70228464127242,0.7631601120157748,0.008132377169795,Benign,0.4374,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93A,NP_000240:p.Ser93Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00647,0.41531,0.2015761507458285,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,64.76,G,0.0517,2.5496,-3.1101,gain_of_function,-0.267921736476169,0.940233603825975,0.016670770177026,Benign,0.0649,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93C,NP_000240:p.Ser93Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02873,0.59592,0.6077369024643722,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0278,2.5496,-8.8104,loss_of_function,-0.169777347102357,0.9523496238860932,0.497805874734351,Uncertain,0.0679,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93D,NP_000240:p.Ser93Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.21239,0.02993,0.0028331225320432,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0658,2.5496,-6.8105,loss_of_function,-1.27358980482477,0.816082905373688,0.3477009832044972,Uncertain,0.2141,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93E,NP_000240:p.Ser93Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53702,0.17245,0.0174910469518341,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0261,2.5496,-4.287,loss_of_function,-0.624113049695034,0.896261440733062,0.06012887283687,Benign,0.2798,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93F,NP_000240:p.Ser93Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.5681,-0.47211,-0.3603174062354458,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.1232,2.5496,-22.0983,loss_of_function,-2.14278011258858,0.7087805188377064,0.8088874953842944,Pathogenic,0.1698,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93G,NP_000240:p.Ser93Gly,"hg19,3:g.37042515A>G",6.37470516989e-05,1.59114052953e-05,0.549,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.367,0.79218,0.4802545745813869,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,DOWN,neutral,neutral,neutral,90126,Conflicting classifications of pathogenicity,1,64.76,G,0.0253,2.5496,-6.4886,gain_of_function,-0.95639042845282,0.8552414760439031,0.1199373495539668,Benign,0.0727,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93H,NP_000240:p.Ser93His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17179,-0.39354,-0.4344239643035136,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0362,2.5496,-4.8106,loss_of_function,-0.457778193724422,0.9167956400336545,0.2621129303722849,Benign,0.1482,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93I,NP_000240:p.Ser93Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.11277,0.15442,-0.0024536403138769,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,3230779,Uncertain significance,1,64.76,G,-0.1264,2.5496,-22.0983,loss_of_function,-2.48371871991649,0.666691317080892,0.8453665899405723,Pathogenic,0.1716,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93K,NP_000240:p.Ser93Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48349,-0.02007,-0.1685259748331713,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0417,2.5496,-4.0557,loss_of_function,-0.3512076462757,0.9299518774807951,0.0075330850030019,Benign,0.2604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93L,NP_000240:p.Ser93Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.32501,-0.2949,-0.4349372539830087,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.1226,2.5496,-22.0983,loss_of_function,-1.891571436852,0.7397924735089766,0.4952658543107366,Uncertain,0.1007,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93M,NP_000240:p.Ser93Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.46325,0.14762,-0.0386057580058113,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0259,2.5496,-8.8104,loss_of_function,-2.00039337431654,0.7263582997807216,0.6529402417813991,Uncertain,0.1449,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93N,NP_000240:p.Ser93Asn,"hg38,3:g.37001025G>A",,,0.457,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.45858,-0.35068,-0.1833618613684889,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,525604,Uncertain significance,2,64.76,G,0.0249,2.5496,-4.0032,gain_of_function,-0.332262686955293,0.9322906510839394,0.0140498519275045,Benign,0.0757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93P,NP_000240:p.Ser93Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.07207,3.9619,4.665614203373443,Destabilizing,Destabilizing,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.1986,2.5496,-22.0983,loss_of_function,-2.85738054231149,0.6205624026852398,0.9136931608144552,Pathogenic,0.8118,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93Q,NP_000240:p.Ser93Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.13585,0.07109,0.1592578378989306,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0031,2.5496,-5.6406,loss_of_function,-1.14015081610801,0.8325560779555284,0.0256514944729433,Benign,0.2135,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93R,NP_000240:p.Ser93Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.86688,0.17823,-0.503981223688118,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.047,2.5496,-4.0557,loss_of_function,-0.351356255347442,0.9299335315467502,0.2398979652389563,Benign,0.2183,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93T,NP_000240:p.Ser93Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13451,-0.27653,0.0676143706642007,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,neutral,,,UP,neutral,neutral,neutral,,,,64.76,G,0.0554,2.5496,-4.2256,gain_of_function,-0.0521645657014357,0.9668690358246844,0.003655256513688,Benign,0.0653,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93V,NP_000240:p.Ser93Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6872,0.22721,0.0245231536494838,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0277,2.5496,-7.8105,loss_of_function,-1.13528431823065,0.8331568518385879,0.6333212417345445,Uncertain,0.1453,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93W,NP_000240:p.Ser93Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08426,0.05136,-0.6345207752555243,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.0651,2.5496,-8.8104,loss_of_function,-1.50783718726215,0.7871648388112524,0.8369762488820942,Pathogenic,0.3392,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S93Y,NP_000240:p.Ser93Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40788,-0.58027,-0.3354069528951614,Neutral,Neutral,False,0.06,,,,,,,Uncertain,Uncertain,Uncertain,76.7,,True,76.7,,uncertain,,,UP,neutral,neutral,neutral,,,,64.76,G,-0.128,2.5496,-22.0983,loss_of_function,-2.14278011258858,0.7087805188377064,0.6832540113583565,Pathogenic,0.1625,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94A,NP_000240:p.Ile94Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.36296,2.02551,2.6546488220633413,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.3534,0.7842,-22.0983,loss_of_function,-5.0702661174154,0.34737953212311146,0.967462927973291,Pathogenic,0.9711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94C,NP_000240:p.Ile94Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.60136,1.88469,2.665380038892025,Neutral,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.3334,0.7842,-22.0983,loss_of_function,-4.42117997017581,0.42750984655958973,0.9764693228130517,Pathogenic,0.9796,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94D,NP_000240:p.Ile94Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.71758,3.13231,3.5859637358236376,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.4775,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9862203543823288,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94E,NP_000240:p.Ile94Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.57193,2.96769,3.3029854768312408,Uncertain,Destabilizing,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.4584,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9837517894767676,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94F,NP_000240:p.Ile94Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.30696,1.79422,1.4806373582053094,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.4,-,-0.3144,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.98629920159651,Pathogenic,0.858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94G,NP_000240:p.Ile94Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.07852,3.80884,4.257271931401002,Destabilizing,Destabilizing,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.4441,0.7842,-22.0983,loss_of_function,-4.73354993149462,0.38894747186181694,0.9636758886000992,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94H,NP_000240:p.Ile94His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.75341,2.8881,2.334645183818098,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.444,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9822719267170462,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94K,NP_000240:p.Ile94Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.06949,3.98776,3.32269084741788,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,66.4,-,-0.4509,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9857005489807942,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94L,NP_000240:p.Ile94Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.34024,-0.09252,0.6711771571762254,Neutral,Neutral,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,66.4,-,-0.1419,0.7842,-3.1381,loss_of_function,-1.61289362272951,0.774195519956774,0.2333888875130729,Benign,0.2779,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94M,NP_000240:p.Ile94Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.26819,1.24082,1.2936289962540175,Neutral,Neutral,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2016767,Uncertain significance,1,66.4,-,-0.157,0.7842,-5.0032,loss_of_function,-0.803386270170902,0.8741299877851547,0.2790732589452122,Benign,0.4312,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94N,NP_000240:p.Ile94Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.73743,2.60816,2.6031303457014765,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.3905,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9869622114881818,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94P,NP_000240:p.Ile94Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.83809,5.01871,4.295208025569361,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.4975,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.983100147146342,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94Q,NP_000240:p.Ile94Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.4413,1.52517,2.6900181331218302,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.4181,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9830458058868512,Pathogenic,0.9934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94R,NP_000240:p.Ile94Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.16589,3.61224,2.7584312873895582,Destabilizing,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.4,-,-0.4777,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9884422311569964,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94S,NP_000240:p.Ile94Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.83831,2.89218,3.260207464637697,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.3262,0.7842,-8.8104,loss_of_function,-3.79678515946086,0.5045919915535518,0.9759813638822892,Pathogenic,0.9788,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94T,NP_000240:p.Ile94Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.25992,1.9932,2.2091949200187315,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,66.4,-,-0.3108,0.7842,-22.0983,loss_of_function,-5.0702661174154,0.34737953212311146,0.9324775703859582,Pathogenic,0.9783,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94V,NP_000240:p.Ile94Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.93777,0.62211,0.9770028741361924,Neutral,Neutral,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,525644,Uncertain significance,2,66.4,-,-0.1229,0.7842,-7.2256,loss_of_function,-2.08411106994486,0.7160232690561811,0.5081137996176442,Uncertain,0.2861,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94W,NP_000240:p.Ile94Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.61547,5.13027,1.7931134172475038,Uncertain,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.4,-,-0.4033,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.985144788086777,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I94Y,NP_000240:p.Ile94Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.24743,6.17959,2.0474121934288,Destabilizing,Uncertain,False,0.073,,,,,,,,,,11.3,,True,11.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.4,-,-0.4122,0.7842,-22.0983,loss_of_function,-5.61940196147881,0.27958817955724036,0.9842914280724784,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95A,NP_000240:p.Ser95Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53239,0.49354,0.2062908100007926,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,-,uncertain,uncertain,neutral,90127,Uncertain significance,2,66.49,-,0.0499,2.4612,-1.8798,gain_of_function,-0.273206535804258,0.9395811902231053,0.000102630462478,Benign,0.0579,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95C,NP_000240:p.Ser95Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36972,1.0068,0.8203733402388669,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.0241,2.4612,-6.4886,loss_of_function,-0.951060499200353,0.8558994609797097,0.2698592925381617,Benign,0.0899,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95D,NP_000240:p.Ser95Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47725,0.33639,-0.1684068939689015,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.152,2.4612,-22.0983,loss_of_function,-1.85673810008751,0.7440926827180017,0.1292606084726364,Benign,0.5249,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95E,NP_000240:p.Ser95Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59031,0.38061,-0.1149128917765784,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.043,2.4612,-6.0032,loss_of_function,-1.30016389355734,0.8128023083449892,0.0198133838841858,Benign,0.5226,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95F,NP_000240:p.Ser95Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.05822,-0.31531,-0.2122441000547953,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1314,2.4612,-22.0983,loss_of_function,-2.82380696174054,0.6247070937703133,0.4878786734607023,Uncertain,0.3574,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95G,NP_000240:p.Ser95Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41954,1.07109,0.6056298328307036,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,DOWN,neutral,mixed_effects,neutral,,,,66.49,-,0.0352,2.4612,-2.9526,gain_of_function,-1.14103661474773,0.8324467252543037,0.0060996278878128,Benign,0.0855,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95H,NP_000240:p.Ser95His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.06718,-0.46871,-0.3139765272513478,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1326,2.4612,-22.0983,loss_of_function,-2.38286911308766,0.679141298859669,0.3367736517891851,Uncertain,0.4297,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95I,NP_000240:p.Ser95Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47701,0.25306,-0.122496433052226,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1345,2.4612,-22.0983,loss_of_function,-2.65381976334171,0.6456921782861387,0.5710987012023726,Uncertain,0.418,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95K,NP_000240:p.Ser95Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.03458,0.13163,-0.1438528813406758,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.0579,2.4612,-5.6406,loss_of_function,-1.3224598035352,0.8100498566330382,0.1071259979125089,Benign,0.6757,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95L,NP_000240:p.Ser95Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33731,0.37687,-0.3261546867715359,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1308,2.4612,-22.0983,loss_of_function,-2.10536045384611,0.7134000120034312,0.4108983537675622,Uncertain,0.1517,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95M,NP_000240:p.Ser95Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01505,0.48163,-0.0541946344469984,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1018,2.4612,-22.0983,loss_of_function,-2.10550776996046,0.7133818256862302,0.4872161991242883,Uncertain,0.2925,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95N,NP_000240:p.Ser95Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.07498,-0.12075,-0.1276230990594995,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,0.0111,2.4612,-5.1101,gain_of_function,-1.26452366011859,0.8172021297310746,0.0078681313142167,Benign,0.2169,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95P,NP_000240:p.Ser95Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.66937,3.07619,1.4096077991984497,Uncertain,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.2068,2.4612,-22.0983,loss_of_function,-3.13888873307557,0.5858099434958073,0.9146937543724686,Pathogenic,0.7655,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95Q,NP_000240:p.Ser95Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01312,0.43503,0.1664155223160462,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.008,2.4612,-5.0032,loss_of_function,-1.55451877350817,0.7814019517119127,0.0646480705616669,Benign,0.457,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95R,NP_000240:p.Ser95Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.36578,0.08333,-0.2393880571966378,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.065,2.4612,-6.0032,loss_of_function,-1.31772808337656,0.8106339920759985,0.0998473736380849,Benign,0.6012,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95T,NP_000240:p.Ser95Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41623,-0.05102,0.1050466568700608,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,neutral,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,0.0506,2.4612,-3.5626,gain_of_function,-0.442818302063973,0.9186424531689916,0.0296361612816566,Benign,0.1137,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95V,NP_000240:p.Ser95Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.53322,-0.02109,-0.0182969168838015,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.0307,2.4612,-6.8105,loss_of_function,-1.47009302176851,0.7918243926501537,0.1221077674001043,Benign,0.3038,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95W,NP_000240:p.Ser95Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.21002,0.13912,-0.5548138271294406,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1411,2.4612,-22.0983,loss_of_function,-2.82380696174054,0.6247070937703133,0.892087351854679,Pathogenic,0.5847,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S95Y,NP_000240:p.Ser95Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00724,-0.52687,-0.1387312256948808,Neutral,Neutral,False,0.059,,,,,,,Uncertain,Uncertain,Uncertain,97.1,,False,97.1,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,66.49,-,-0.1362,2.4612,-22.0983,loss_of_function,-2.82380696174054,0.6247070937703133,0.5739826600701127,Uncertain,0.3351,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96A,NP_000240:p.Thr96Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35057,1.16259,0.8009470130741891,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,DOWN,neutral,neutral,damaging,188169,Conflicting classifications of pathogenicity,1,66.38,S,-0.2949,0.2953,-22.0983,loss_of_function,-3.238512081673,0.5735113444850656,0.9877448196958534,Pathogenic,0.9163,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96C,NP_000240:p.Thr96Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.10555,0.85544,0.9487517754717278,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,DOWN,neutral,neutral,damaging,,,,66.38,S,-0.3307,0.2953,-22.0983,loss_of_function,-3.238512081673,0.5735113444850656,0.9866643190888172,Pathogenic,0.9934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96D,NP_000240:p.Thr96Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.73934,1.23095,1.440085088831209,Uncertain,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,-,uncertain,uncertain,damaging,,,,66.38,S,-0.4105,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9897950724031996,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96E,NP_000240:p.Thr96Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.3741,1.38265,1.5002919888820303,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3858,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9869237181443692,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96F,NP_000240:p.Thr96Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.30371,-0.01497,-0.2476684733716688,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.4021,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9837786994419272,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96G,NP_000240:p.Thr96Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.27129,1.40068,2.18125015701514,Neutral,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,DOWN,neutral,neutral,damaging,,,,66.38,S,-0.3684,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9826612269375212,Pathogenic,0.9568,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96H,NP_000240:p.Thr96His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.74843,0.92687,0.3675455117862236,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3824,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9206300331829844,Pathogenic,0.9896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96I,NP_000240:p.Thr96Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59668,-0.03435,-0.2221478518670783,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,801204,Uncertain significance,2,66.38,S,-0.3208,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9889170891679054,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96K,NP_000240:p.Thr96Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.25362,2.31429,1.1017082672882696,Uncertain,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.378,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9877146971804478,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96L,NP_000240:p.Thr96Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.66247,0.2051,-0.2927337537883873,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3049,0.2953,-8.8104,loss_of_function,-5.37913383761748,0.3092495124880826,0.9844405406570916,Pathogenic,0.9777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96M,NP_000240:p.Thr96Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.37351,0.63673,0.4876546786427865,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3397,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9890111219665106,Pathogenic,0.9691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96N,NP_000240:p.Thr96Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.43679,1.0051,0.7712079198791724,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,-,uncertain,uncertain,damaging,835682,Uncertain significance,1,66.38,S,-0.3505,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9929931910679916,Pathogenic,0.9774,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96P,NP_000240:p.Thr96Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6263,6.67755,3.627248863228106,Uncertain,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,-,uncertain,uncertain,damaging,,,,66.38,S,-0.4592,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.98830690996083,Pathogenic,0.9742,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96Q,NP_000240:p.Thr96Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22027,1.25204,0.9111454520185566,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.36,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9808958636374244,Pathogenic,0.9913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96R,NP_000240:p.Thr96Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24192,1.80816,0.5179186307767919,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3808,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.985450048372546,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96S,NP_000240:p.Thr96Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.50095,0.75102,1.0928087423651571,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,neutral,,,DOWN,neutral,neutral,damaging,,,,66.38,S,-0.1684,0.2953,-4.4183,loss_of_function,-1.8052356800169,0.7504507064287962,0.1706759151491569,Benign,0.5865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96V,NP_000240:p.Thr96Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.58971,-0.05646,-0.1841614463534402,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.3084,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9865788545354912,Pathogenic,0.9848,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96W,NP_000240:p.Thr96Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40991,0.34728,-0.3164684723812433,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.395,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9872635446955428,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T96Y,NP_000240:p.Thr96Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.45672,-0.00272,-0.1248337209529282,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,False,34.2,,uncertain,,,UP,neutral,mixed_effects,damaging,,,,66.38,S,-0.4036,0.2953,-22.0983,loss_of_function,-5.37913383761748,0.3092495124880826,0.9662100878623188,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97A,NP_000240:p.Tyr97Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.62021,2.95918,2.461820229045699,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.3734,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9718942316006512,Pathogenic,0.9812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97C,NP_000240:p.Tyr97Cys,"hg19,3:g.37042528A>G, hg38,3:g.37001037A>G",,0.0002426605139629,0.603,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.94624,2.74694,2.7892440786595016,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,184486,Conflicting classifications of pathogenicity,1,67.07,S,-0.3441,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9369270904463344,Pathogenic,0.6879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97D,NP_000240:p.Tyr97Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.68262,4.38776,3.2075182014645875,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,483568,Uncertain significance,2,67.07,S,-0.3876,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.981748282987884,Pathogenic,0.988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97E,NP_000240:p.Tyr97Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.27164,4.51054,2.8053545565051863,Destabilizing,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.4163,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9737856806893466,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97F,NP_000240:p.Tyr97Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01977,0.47347,0.3185878507452144,Neutral,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,-,uncertain,uncertain,neutral,,,,67.07,S,-0.1121,0.8466,-2.7231,loss_of_function,-0.830260589209687,0.8708123270339553,0.0093576737147245,Benign,0.1437,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97G,NP_000240:p.Tyr97Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.48249,3.90068,3.788182229368208,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.444,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9710366685665748,Pathogenic,0.9669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97H,NP_000240:p.Tyr97His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.91041,2.00068,1.5169507066853551,Uncertain,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.2082,0.8466,-7.8105,loss_of_function,-1.91565580806647,0.7368192345227068,0.103916659011703,Benign,0.9043,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97I,NP_000240:p.Tyr97Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.35458,2.97381,1.8357564175099628,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.3855,0.8466,-22.0983,loss_of_function,-3.43982143597109,0.548659509443582,0.9648633149665063,Pathogenic,0.9843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97K,NP_000240:p.Tyr97Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.79923,3.74218,2.545009704353016,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.4416,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.8603013270924851,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97L,NP_000240:p.Tyr97Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37884,1.84592,0.9269050041635972,Neutral,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.2829,0.8466,-6.4886,loss_of_function,-2.38325557768845,0.6790935894298628,0.5585457566255699,Uncertain,0.8201,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97M,NP_000240:p.Tyr97Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02359,2.40612,1.4180225627203835,Uncertain,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.235,0.8466,-6.4886,loss_of_function,-2.77380237502699,0.6308802085004046,0.5127843026737311,Uncertain,0.9337,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97N,NP_000240:p.Tyr97Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.72009,3.16088,2.2600606150512434,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.2988,0.8466,-8.8104,loss_of_function,-5.00361802051835,0.3556073043281809,0.9026292490802597,Pathogenic,0.944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97P,NP_000240:p.Tyr97Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.28788,5.21293,6.774870512290756,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.4976,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9710167188695498,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97Q,NP_000240:p.Tyr97Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.12128,2.48707,2.244268978350219,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.3911,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9741815126836744,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97R,NP_000240:p.Tyr97Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.30778,2.80408,1.9138879709099592,Uncertain,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.437,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9369757574517728,Pathogenic,0.9835,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97S,NP_000240:p.Tyr97Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.88292,3.61224,3.182912840185089,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.3782,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.9804546851058724,Pathogenic,0.9376,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97T,NP_000240:p.Tyr97Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.82308,2.64524,2.8123352158912978,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.3968,0.8466,-22.0983,loss_of_function,-5.00361802051835,0.3556073043281809,0.977099105281821,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97V,NP_000240:p.Tyr97Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.70956,2.74456,2.1364997671718644,Uncertain,Uncertain,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,67.07,S,-0.375,0.8466,-22.0983,loss_of_function,-3.43982143597109,0.548659509443582,0.9787316039675088,Pathogenic,0.9456,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y97W,NP_000240:p.Tyr97Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.82648,1.14524,0.1219831634901491,Neutral,Neutral,False,0.048,,,,,,,,,,15.4,,False,15.4,,uncertain,,,UP,neutral,neutral,neutral,,,,67.07,S,-0.291,0.8466,-22.0983,loss_of_function,-1.89678254079793,0.7391491576725127,0.9767630885661348,Pathogenic,0.7286,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98A,NP_000240:p.Gly98Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.10844,0.87619,-0.0363282942272985,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.3808,0.0229,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9943165346500028,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98C,NP_000240:p.Gly98Cys,"hg19,3:g.37042530G>T, hg38,3:g.37001039G>T",,,0.982,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.53003,0.97041,0.5672595624060456,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4406,0.0229,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9952739054856328,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98D,NP_000240:p.Gly98Asp,"hg19,3:g.37042531G>A",,,0.530,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.37678,-0.47959,0.3930708893902085,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,218023,Conflicting classifications of pathogenicity,1,66.65,-,-0.4411,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9951394266626374,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98E,NP_000240:p.Gly98Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.71254,4.05884,0.2800388447964969,Destabilizing,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4404,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.994702241100708,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98F,NP_000240:p.Gly98Phe,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.73979,5.32347,-1.332318331301151,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,525811,Conflicting classifications of pathogenicity,1,66.65,-,-0.4787,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9950240219085428,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98H,NP_000240:p.Gly98His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.38068,3.89524,-0.7649986875743503,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4534,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9941154292168648,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98I,NP_000240:p.Gly98Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.55923,3.76259,-0.1534802516307631,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.5244,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9934086798583822,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98K,NP_000240:p.Gly98Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.24704,5.56054,0.3040258904581056,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4733,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9939811833714288,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98L,NP_000240:p.Gly98Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.94676,3.2585,-0.9398596086562522,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4248,0.0229,-8.8104,loss_of_function,-7.11402871735658,0.09507505688008723,0.9945562837353744,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98M,NP_000240:p.Gly98Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.76358,4.86156,-0.4667289972767563,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4308,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9944643213074136,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98N,NP_000240:p.Gly98Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.88644,2.87857,-0.3136245354228539,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4414,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9944660226215664,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98P,NP_000240:p.Gly98Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.62395,8.69864,7.06420052377005,Destabilizing,Destabilizing,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.5385,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9933405488144068,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98Q,NP_000240:p.Gly98Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.4854,3.77211,0.1399233699293284,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4443,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9947162206468992,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98R,NP_000240:p.Gly98Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39351,6.89422,-0.4550714262568445,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90129,Conflicting classifications of pathogenicity,1,66.65,-,-0.4574,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9954673720228536,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98S,NP_000240:p.Gly98Ser,"hg19,3:g.37042530G>A, hg38,3:g.37001039G>A",,,0.967,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.28557,0.76088,0.8642301790109796,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90128,Conflicting classifications of pathogenicity,1,66.65,-,-0.3867,0.0229,-22.0983,loss_of_function,-5.25450387904114,0.32463520175505917,0.9941142089778146,Pathogenic,0.992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98T,NP_000240:p.Gly98Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59711,1.23639,0.5496054196357902,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4636,0.0229,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9953162356140656,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98V,NP_000240:p.Gly98Val,"hg19,3:g.37042531G>T",,,0.519,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.92598,2.73197,-0.2169669064340412,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4676,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9941351280271822,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98W,NP_000240:p.Gly98Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.98168,7.89796,-1.587908606232971,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4785,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.99344232127996,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G98Y,NP_000240:p.Gly98Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.87449,7.7381,-1.2719909638385596,Uncertain,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,27.9,,False,27.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,66.65,-,-0.4791,0.0229,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9954624578768874,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99A,NP_000240:p.Phe99Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.84746,2.81293,3.5765295186090733,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.4465,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9954215745648692,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99C,NP_000240:p.Phe99Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.47188,3.11054,3.623142338677497,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,938490,Uncertain significance,1,68.86,-,-0.4146,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9952735927156092,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99D,NP_000240:p.Phe99Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.87202,1.43844,4.510324872210371,Uncertain,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5694,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9946578651118853,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99E,NP_000240:p.Phe99Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.69905,3.42245,4.246335251007042,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5388,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.994767983205844,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99G,NP_000240:p.Phe99Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.6532,4.07891,5.42307868318793,Destabilizing,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.4818,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9944728247331488,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99H,NP_000240:p.Phe99His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.33421,1.09184,2.174334727418843,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.474,0.0229,-22.0983,loss_of_function,-4.25678239408292,0.4478048867802766,0.9960029428286076,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99I,NP_000240:p.Phe99Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.57111,1.1381,2.459669003336,Neutral,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.3904,0.0229,-22.0983,loss_of_function,-6.68046254404758,0.14859922149832697,0.9942875554572174,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99K,NP_000240:p.Phe99Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.08688,4.64116,4.596652493911004,Destabilizing,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5457,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.993766515056696,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99L,NP_000240:p.Phe99Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.9582,1.3119,1.990628090707688,Neutral,Neutral,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.2847,0.0229,-8.8104,loss_of_function,-4.33413920825523,0.4382551130410084,0.9949160784321368,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99M,NP_000240:p.Phe99Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03933,2.27279,2.22677831678628,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.3835,0.0229,-22.0983,loss_of_function,-6.68046254404758,0.14859922149832697,0.9946963141394228,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99N,NP_000240:p.Phe99Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.43964,2.16156,3.438049164551709,Uncertain,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.4991,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9939402689774228,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99P,NP_000240:p.Phe99Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.3157,5.0381,6.390009622558345,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5698,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9941927483814874,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99Q,NP_000240:p.Phe99Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.79177,1.85068,3.577550313257421,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5011,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.994133301516636,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99R,NP_000240:p.Phe99Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86685,3.97993,3.727771069663579,Destabilizing,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.5471,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9943455327698484,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99S,NP_000240:p.Phe99Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.80064,2.89286,4.214988721531226,Uncertain,Destabilizing,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,1798276,Likely pathogenic,1,68.86,-,-0.4255,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.994312237211581,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99T,NP_000240:p.Phe99Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.82507,2.12075,3.489853830954306,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.4717,0.0229,-22.0983,loss_of_function,-7.07046990652476,0.10045243432571063,0.9953162356140656,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99V,NP_000240:p.Phe99Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.56497,1.77789,2.5283913071883126,Neutral,Uncertain,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,damaging,,,,68.86,-,-0.3847,0.0229,-22.0983,loss_of_function,-6.68046254404758,0.14859922149832697,0.994772578711145,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99W,NP_000240:p.Phe99Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.55923,1.91939,0.3990678880816961,Neutral,Neutral,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,68.86,-,-0.37,0.0229,-22.0983,loss_of_function,-4.25678239408292,0.4478048867802766,0.9943768628395482,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F99Y,NP_000240:p.Phe99Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.91606,-0.53878,0.5322753244017803,Neutral,Neutral,False,0.022,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,68.86,-,-0.3383,0.0229,-22.0983,loss_of_function,-3.71375485638332,0.5148421630009847,0.97145240585655,Pathogenic,0.9681,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100A,NP_000240:p.Arg100Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.02778,1.31905,0.8220913209559269,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4049,0.0458,-22.0983,loss_of_function,-6.86656566067379,0.1256246112462269,0.9956234881662204,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100C,NP_000240:p.Arg100Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.49902,0.88299,1.488573975666434,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4138,0.0458,-22.0983,loss_of_function,-6.86656566067379,0.1256246112462269,0.9959166946706204,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100D,NP_000240:p.Arg100Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.80803,1.73027,0.9846789425874232,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.496,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9943008910727472,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100E,NP_000240:p.Arg100Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.47794,1.1398,0.7966284142399954,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4412,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9951867345670522,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100F,NP_000240:p.Arg100Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.56915,0.27789,0.2030965563051368,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,68.4,S,-0.4371,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.99382953022015,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100G,NP_000240:p.Arg100Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.67519,2.65986,1.6594042148472228,Uncertain,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,2767851,Uncertain significance,1,68.4,S,-0.4403,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9951110025447368,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100H,NP_000240:p.Arg100His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.15302,0.46463,0.3069959554900847,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.3747,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9950522294220704,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100I,NP_000240:p.Arg100Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46771,0.16224,0.4761236476380354,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4344,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9934900000527151,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100K,NP_000240:p.Arg100Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.2416,0.39252,0.6165457766981747,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,68.4,S,-0.2952,0.0458,-22.0983,loss_of_function,-4.28316245398992,0.44454824279828636,0.994821935723414,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100L,NP_000240:p.Arg100Leu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29621,-0.79184,-0.0203747334165443,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,1697924,Uncertain significance,2,68.4,S,-0.4074,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9945138086602,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100M,NP_000240:p.Arg100Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.23842,0.14626,0.5126520872768703,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.3732,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.994913516453126,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100N,NP_000240:p.Arg100Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61445,1.14932,0.666651600173623,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4198,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.995283594082986,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100P,NP_000240:p.Arg100Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.43876,4.6949,2.35376764442073,Uncertain,Uncertain,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,90133,Pathogenic,3,68.4,S,-0.547,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.994750620347404,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100Q,NP_000240:p.Arg100Gln,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.73661,0.23231,0.8067301604298166,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,90132,Uncertain significance,2,68.4,S,-0.3119,0.0458,-8.8104,loss_of_function,-7.11415783356981,0.0950591173583319,0.9947502654631102,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100S,NP_000240:p.Arg100Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.47381,0.82347,0.8700851353909039,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4055,0.0458,-22.0983,loss_of_function,-3.67280278472946,0.519897735966768,0.995492870269412,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100T,NP_000240:p.Arg100Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.67536,-0.25238,0.7875006051806455,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4098,0.0458,-22.0983,loss_of_function,-6.86656566067379,0.1256246112462269,0.9937821789965866,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100V,NP_000240:p.Arg100Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03884,0.21361,0.6051201369890638,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,damaging,,,,68.4,S,-0.4214,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9949063290472347,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100W,NP_000240:p.Arg100Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59317,-0.74184,-0.0940086838281706,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,68.4,S,-0.4227,0.0458,-22.0983,loss_of_function,-7.11415783356981,0.0950591173583319,0.9949314261646208,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R100Y,NP_000240:p.Arg100Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6592,0.58027,0.2983211833121174,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,33.3,,False,33.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,68.4,S,-0.3586,0.0458,-8.8104,loss_of_function,-7.11415783356981,0.0950591173583319,0.9950198571229328,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101A,NP_000240:p.Gly101Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.83048,3.60918,2.1259615369601463,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.3829,0.0001,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9941585799309122,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101C,NP_000240:p.Gly101Cys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",13.90166,6.61122,2.4709779877240368,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1798904,Likely pathogenic,1,76.83,S,-0.4427,0.0001,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9959338111594463,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101D,NP_000240:p.Gly101Asp,"hg19,3:g.37042540G>A, hg38,3:g.37001049G>A",,,,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.0288,6.51463,2.6680666987713453,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90138,Likely pathogenic,3,76.83,S,-0.4432,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9941961501651108,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101E,NP_000240:p.Gly101Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.13854,8.51939,3.0580766091695435,Destabilizing,Destabilizing,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4425,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.995608919075273,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101F,NP_000240:p.Gly101Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",33.91992,5.79728,1.804951920817773,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4808,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9944741486981424,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101H,NP_000240:p.Gly101His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",33.65372,6.24592,2.0275841560067245,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4555,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9952338016416882,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101I,NP_000240:p.Gly101Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",30.53088,12.46939,4.233469724612712,Destabilizing,Destabilizing,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.5265,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9954086028628456,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101K,NP_000240:p.Gly101Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.34006,6.65102,2.271550449837124,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4754,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9950325022549212,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101L,NP_000240:p.Gly101Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",26.08554,9.42211,2.497929988006418,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4947,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.995978345405194,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101M,NP_000240:p.Gly101Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",19.90846,8.04796,1.9205479232426583,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4329,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9936464341528604,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101N,NP_000240:p.Gly101Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.61594,5.41939,1.989633429112481,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4435,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9953779591856968,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101P,NP_000240:p.Gly101Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",15.69218,4.80374,6.92808542697128,Destabilizing,Destabilizing,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.5406,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9942524654476036,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101Q,NP_000240:p.Gly101Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.08418,8.69422,2.4570839522957035,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4464,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.994987901159574,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101R,NP_000240:p.Gly101Arg,"hg19,3:g.37042539G>C",,,0.798,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.40348,6.97585,2.229266788163744,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,572275,Likely pathogenic,2,76.83,S,-0.4595,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9950641166411398,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101S,NP_000240:p.Gly101Ser,"hg19,3:g.37042539G>A",,,0.967,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.33826,5.36769,2.170872164426027,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90137,Likely pathogenic,3,76.83,S,-0.3888,0.0001,-22.0983,loss_of_function,-6.86643654446057,0.1256405507679809,0.9953067805157896,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101T,NP_000240:p.Gly101Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.58528,7.66293,2.911494549202272,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4657,0.0001,-22.0983,loss_of_function,-3.67267366851624,0.5199136754885221,0.9948506575269384,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101V,NP_000240:p.Gly101Val,"hg19,3:g.37042540G>T, hg38,3:g.37001049G>T",,,,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.87242,13.74694,3.571993902138153,Destabilizing,Destabilizing,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1723354,Conflicting classifications of pathogenicity,1,76.83,S,-0.4697,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9950792570718217,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101W,NP_000240:p.Gly101Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",36.94548,5.2568,2.031686354213498,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4806,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9946779414932828,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G101Y,NP_000240:p.Gly101Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",32.11712,8.12755,1.91983811628277,Destabilizing,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,76.83,S,-0.4812,0.0001,-22.0983,loss_of_function,-7.11402871735658,0.09507505688008723,0.9949061579035215,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102A,NP_000240:p.Glu102Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.51645,2.07619,0.8506240857007352,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,486866,Likely pathogenic,1,84.71,-,-0.3179,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9952066783768496,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102C,NP_000240:p.Glu102Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.03697,1.67415,1.479934590384136,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.3873,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9943313459695666,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102D,NP_000240:p.Glu102Asp,"hg19,3:g.37042544G>T, hg38,3:g.37001053G>C, hg38,3:g.37001053G>T",,1.19363078613e-05,"0.876, 0.877","cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.24036,0.6102,0.7836017498693726,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,"90151, 90150","Uncertain significance, Pathogenic","3, 3",84.71,-,-0.2836,0.0227,-22.1143,loss_of_function,-4.28316245398992,0.44454824279828636,0.9941555520468766,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102F,NP_000240:p.Glu102Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.51074,0.64524,0.0100845697036822,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3649,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9944673454343916,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102G,NP_000240:p.Glu102Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37631,3.45408,1.8972578570221603,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.3437,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9946271197603188,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102H,NP_000240:p.Glu102His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29971,2.52687,0.31596836472914,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3562,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9948466649020464,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102I,NP_000240:p.Glu102Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.68012,0.17381,-0.1827597055442587,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3703,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9956286183648552,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102K,NP_000240:p.Glu102Lys,"hg38,3:g.37001051G>A",,,0.949,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.25519,2.97551,0.7411345246944797,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90141,Likely pathogenic,3,84.71,-,-0.3399,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9953515179336344,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102L,NP_000240:p.Glu102Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.12179,1.16259,-0.5302721442495095,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3724,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.995457986867584,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102M,NP_000240:p.Glu102Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.78533,1.70646,0.0997237542205736,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3212,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9945386347253308,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102N,NP_000240:p.Glu102Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.14153,2.16122,0.8001309269283385,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.3441,0.0227,-22.1143,loss_of_function,-1.41992663147764,0.7980174821888012,0.995592708357482,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102P,NP_000240:p.Glu102Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.75176,7.54116,3.0132567001050115,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.4071,0.0227,-8.8264,loss_of_function,-7.11660221552008,0.0947573560357232,0.9959022525936309,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102Q,NP_000240:p.Glu102Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.47838,1.26599,0.6354911320438158,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.2904,0.0227,-22.1143,loss_of_function,-4.28316245398992,0.44454824279828636,0.9941587815032156,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102R,NP_000240:p.Glu102Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.55594,2.87415,0.5171835783332157,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.4004,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9936947935933887,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102S,NP_000240:p.Glu102Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07138,2.32789,1.08755212077338,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.3314,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9950241883036894,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102T,NP_000240:p.Glu102Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.34349,0.9398,0.693856845453612,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,84.71,-,-0.3473,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9951494514329412,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102V,NP_000240:p.Glu102Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.36214,0.17755,0.0928365462030295,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,84.71,-,-0.3311,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9963745178746491,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102W,NP_000240:p.Glu102Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.31289,1.45578,-0.3286374698913225,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.375,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9954783621588236,Pathogenic,1.0,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E102Y,NP_000240:p.Glu102Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.21334,1.40578,0.238237145006529,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,84.71,-,-0.3657,0.0227,-22.1143,loss_of_function,-7.11660221552008,0.0947573560357232,0.9939229637956756,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103C,NP_000240:p.Ala103Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39037,0.3068,0.5180228747814594,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3379,0.0226,-22.1238,loss_of_function,-4.39204015578787,0.4311071849089851,0.9871270134045482,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103D,NP_000240:p.Ala103Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.90931,1.33367,0.4062568455231247,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.4197,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9850350394583752,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103E,NP_000240:p.Ala103Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.78926,1.28061,0.1194939543739598,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.4053,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9865353560179796,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103F,NP_000240:p.Ala103Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.90943,-1.0085,-0.9221781366238768,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.388,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9875038936809828,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103G,NP_000240:p.Ala103Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.06068,0.0949,1.1059310313258497,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,87.31,H,-0.3314,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.4169163963510551,Uncertain,0.926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103H,NP_000240:p.Ala103His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4656,-0.53537,-0.430060187963116,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3922,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9901196480211424,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103I,NP_000240:p.Ala103Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.17261,-0.5034,-0.4666651869604737,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3776,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.984916536082362,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103K,NP_000240:p.Ala103Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.38389,2.3568,0.2089866581676613,Uncertain,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.41,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9901162858257382,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103L,NP_000240:p.Ala103Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48042,-0.35578,-0.8627273644308364,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3823,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9886949315757332,Pathogenic,0.9771,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103M,NP_000240:p.Ala103Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69148,1.30374,-0.5907352981425457,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3411,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9881862681666956,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103N,NP_000240:p.Ala103Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.75772,0.26905,0.0758993347776293,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.39,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9883475603581404,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103P,NP_000240:p.Ala103Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.90391,3.91667,1.3545243374320852,Uncertain,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90163,Uncertain significance,2,87.31,H,-0.4594,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.988149571883379,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103Q,NP_000240:p.Ala103Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22725,0.23673,0.0276426507041166,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.3875,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.986903655311404,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103R,NP_000240:p.Ala103Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.2098,2.08163,-0.29483146655019,Uncertain,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.4207,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9871224702001584,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103S,NP_000240:p.Ala103Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33662,0.70782,0.4040753813978504,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,87.31,H,-0.3026,0.0226,-22.1238,loss_of_function,-4.39204015578787,0.4311071849089851,0.9887288332345232,Pathogenic,0.8158,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103T,NP_000240:p.Ala103Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.81918,0.46701,0.078263667839567,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,835024,Uncertain significance,1,87.31,H,-0.3086,0.0226,-22.1238,loss_of_function,-4.39204015578787,0.4311071849089851,0.9825420318930972,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103V,NP_000240:p.Ala103Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.98903,-0.23095,-0.3397010233073694,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1401987,Uncertain significance,1,87.31,H,-0.2378,0.0226,-8.8359,loss_of_function,-7.30129873654924,0.0719563913743601,0.98897057196116,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103W,NP_000240:p.Ala103Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.96603,-0.77143,-1.304173002823541,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.399,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9890557023032156,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A103Y,NP_000240:p.Ala103Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.90695,-0.95374,-0.8194211260581075,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,22.6,,True,22.6,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,87.31,H,-0.4072,0.0226,-22.1238,loss_of_function,-7.30129873654924,0.0719563913743601,0.9872949297739836,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104A,NP_000240:p.Leu104Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.1502,2.76156,2.182439867822316,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4168,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.994726051126167,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104C,NP_000240:p.Leu104Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.29275,3.32041,2.682503171285687,Destabilizing,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4061,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9945921162250688,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104D,NP_000240:p.Leu104Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.46428,3.80714,2.698123342090049,Destabilizing,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.5384,0.0226,-22.1238,loss_of_function,-6.65690823638002,0.15150702362561289,0.992901714916827,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104E,NP_000240:p.Leu104Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.72734,2.76395,2.236397762394671,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.5064,0.0226,-22.1238,loss_of_function,-6.65690823638002,0.15150702362561289,0.9942135320248456,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104F,NP_000240:p.Leu104Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48848,0.73776,0.7033732297034306,Neutral,Neutral,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.44,H,-0.3503,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9938964695424476,Pathogenic,0.9677,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104G,NP_000240:p.Leu104Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.3406,4.14388,3.5141927783685643,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4917,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.993857011167788,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104H,NP_000240:p.Leu104His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.6253,2.3568,1.7610445983418233,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4592,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9943641220234762,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104I,NP_000240:p.Leu104Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.6887,2.31054,0.613907494325186,Uncertain,Neutral,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.44,H,-0.291,0.0226,-22.1238,loss_of_function,-4.35654698427664,0.4354888513574803,0.9002632046723009,Pathogenic,0.8322,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104K,NP_000240:p.Leu104Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.24014,4.31633,2.314884213956047,Destabilizing,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.44,H,-0.5054,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.995079749576175,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104M,NP_000240:p.Leu104Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.3389,0.95442,0.969141373205608,Neutral,Neutral,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,92.44,H,-0.2464,0.0226,-8.8359,loss_of_function,-2.8797557234104,0.6178001648765087,0.8629909539131598,Pathogenic,0.7507,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104N,NP_000240:p.Leu104Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.65311,3.17177,1.998829421471364,Destabilizing,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4847,0.0226,-22.1238,loss_of_function,-3.19073918708755,0.5794089546573865,0.9942751635198896,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104P,NP_000240:p.Leu104Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.264,5.71497,3.5435450913191224,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.5002,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9939168298547442,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104Q,NP_000240:p.Leu104Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.02524,1.8915,1.8423923604827148,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.4376,0.0226,-22.1238,loss_of_function,-6.65690823638002,0.15150702362561289,0.9937599755202836,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104R,NP_000240:p.Leu104Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.96188,4.01463,1.7042712578619583,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.44,H,-0.497,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9923402917796204,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104S,NP_000240:p.Leu104Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.91616,3.57313,2.9019300365501968,Destabilizing,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,455425,Uncertain significance,1,92.44,H,-0.4472,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9943416496214652,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104T,NP_000240:p.Leu104Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.2402,2.30918,2.1014804210364133,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.42,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9945121248740394,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104V,NP_000240:p.Leu104Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.50625,1.87925,0.9845424353508784,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,92.44,H,-0.3272,0.0226,-22.1238,loss_of_function,-4.35654698427664,0.4354888513574803,0.9178776725600674,Pathogenic,0.8613,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104W,NP_000240:p.Leu104Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.48516,1.74592,0.8959345567676619,Uncertain,Uncertain,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.44,H,-0.4494,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9930482009485616,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L104Y,NP_000240:p.Leu104Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.97563,1.76939,1.2283552900778332,Neutral,Neutral,False,0.036,,,,,,,,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,92.44,H,-0.4423,0.0226,-22.1238,loss_of_function,-7.24164921872558,0.07932018220477811,0.9930298394834056,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105C,NP_000240:p.Ala105Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.67952,2.65,1.496281665635255,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.2412,0.2817,-7.836,loss_of_function,-2.71382243280502,0.6382847905432781,0.7414279394925677,Pathogenic,0.9101,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105D,NP_000240:p.Ala105Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.69718,4.86224,2.1485492006351934,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1516492,Uncertain significance,1,91.91,H,-0.3958,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9822196782382469,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105E,NP_000240:p.Ala105Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.675,7.12551,2.2488918985270483,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3815,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.983563306491704,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105F,NP_000240:p.Ala105Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.19179,4.77483,0.995013799347601,Uncertain,Neutral,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3642,0.2817,-22.1238,loss_of_function,-5.56543038444018,0.2862510230906145,0.9330678003721486,Pathogenic,0.9865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105G,NP_000240:p.Ala105Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.32218,2.19932,2.3271671765835853,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,91.91,H,-0.3076,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.982988491718434,Pathogenic,0.8151,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105H,NP_000240:p.Ala105His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.91181,5.55714,1.3000390531097186,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3683,0.2817,-22.1238,loss_of_function,-6.07991955278524,0.22273683624657684,0.9073309135862444,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105I,NP_000240:p.Ala105Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.31526,6.36667,1.0528734350025473,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3537,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9844774132995237,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105K,NP_000240:p.Ala105Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.09434,17.77653,3.139277230322936,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3861,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.98594561553144,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105L,NP_000240:p.Ala105Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.81473,7.79762,0.9224797857750492,Uncertain,Neutral,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3585,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9851424134110884,Pathogenic,0.9747,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105M,NP_000240:p.Ala105Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.8503,10.29592,1.4250582547023722,Uncertain,Neutral,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3172,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9863138275604426,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105N,NP_000240:p.Ala105Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.11125,3.61735,1.1124843774802269,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.2984,0.2817,-8.8359,loss_of_function,-6.91150963339172,0.12007623422227093,0.9037846624286808,Pathogenic,0.9923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105P,NP_000240:p.Ala105Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.47251,1.52109,3.5919915771437765,Neutral,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.4355,0.2817,-22.1238,loss_of_function,-6.57652212329814,0.1614307672534363,0.7695061338466598,Pathogenic,0.9928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105Q,NP_000240:p.Ala105Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.85318,5.44864,1.8380480766712552,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3637,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9823254586786734,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105R,NP_000240:p.Ala105Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.74806,14.7415,2.267247610999777,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3968,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9840115969479232,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105S,NP_000240:p.Ala105Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.21254,1.97925,1.5591376200879288,Neutral,Neutral,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,2716766,Uncertain significance,1,91.91,H,-0.1906,0.2817,-4.836,loss_of_function,-0.795389803982647,0.8751171592920042,0.1146437425571703,Benign,0.2577,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105T,NP_000240:p.Ala105Thr,"hg19,3:g.37045898G>A, hg38,3:g.37004407G>A",,,0.905,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.50561,2.88673,1.3174087526677982,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,1715434,Uncertain significance,1,91.91,H,-0.2847,0.2817,-22.1238,loss_of_function,-4.15845671624777,0.45994328707678184,0.9817018090649496,Pathogenic,0.9758,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105V,NP_000240:p.Ala105Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.10224,3.7949,0.536661447635939,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,834621,Uncertain significance,2,91.91,H,-0.2818,0.2817,-22.1238,loss_of_function,-6.91150963339172,0.12007623422227093,0.9863840031820148,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105W,NP_000240:p.Ala105Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6249,7.15476,1.0901249182591637,Uncertain,Neutral,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3751,0.2817,-22.1238,loss_of_function,-6.07991955278524,0.22273683624657684,0.9835839258268212,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A105Y,NP_000240:p.Ala105Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.90048,6.13163,1.4500796286010835,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,91.91,H,-0.3834,0.2817,-22.1238,loss_of_function,-6.07991955278524,0.22273683624657684,0.9151954363475604,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106A,NP_000240:p.Ser106Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.52779,-1.38844,-0.8289197204707704,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,-,uncertain,uncertain,damaging,,,,91.46,H,-0.2778,0.0226,-22.1238,loss_of_function,-4.35654698427664,0.4354888513574803,0.8562778645319489,Pathogenic,0.8045,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106C,NP_000240:p.Ser106Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.2208,-0.4102,-0.2271499302368362,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.2605,0.0226,-8.8359,loss_of_function,-3.55625775935393,0.5342853323883898,0.981643900835283,Pathogenic,0.9604,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106D,NP_000240:p.Ser106Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.83992,1.76599,0.5472011982379021,Uncertain,Uncertain,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3765,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9946429733489766,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106E,NP_000240:p.Ser106Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.46125,3.83673,-0.0058413553676589,Destabilizing,Uncertain,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3497,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9942429619579858,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106F,NP_000240:p.Ser106Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59114,-0.70714,-2.310624987720512,Neutral,Uncertain,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3559,0.0226,-22.1238,loss_of_function,-6.65729591559162,0.1514591642509242,0.9929721468483248,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106G,NP_000240:p.Ser106Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.27609,0.98231,0.963296963334918,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,DOWN,neutral,neutral,damaging,455426,Uncertain significance,2,91.46,H,-0.287,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9938484374441404,Pathogenic,0.9453,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106H,NP_000240:p.Ser106His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.64032,1.36463,-1.4930123078542756,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3571,0.0226,-22.1238,loss_of_function,-6.65729591559162,0.1514591642509242,0.9941616026470442,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106I,NP_000240:p.Ser106Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.89054,3.20476,-0.9966721887356322,Uncertain,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,1013907,Uncertain significance,1,91.46,H,-0.359,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.993498019849036,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106K,NP_000240:p.Ser106Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29241,4.96259,0.2009193846830587,Uncertain,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3664,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9935976354493395,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106L,NP_000240:p.Ser106Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.84873,0.44116,-1.726241208157934,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3553,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9940575120603288,Pathogenic,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106M,NP_000240:p.Ser106Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.68844,0.33605,-1.4361159245575144,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3263,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9926373402734416,Pathogenic,0.9934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106N,NP_000240:p.Ser106Asn,"hg38,3:g.37004411G>A",,3.9777880316e-06,0.779,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.51542,0.73844,-0.6614953016152675,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,491706,Uncertain significance,2,91.46,H,-0.3001,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.99434009674526,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106P,NP_000240:p.Ser106Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.11567,10.24456,7.304051682210888,Destabilizing,Destabilizing,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.4313,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9940194940024109,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106Q,NP_000240:p.Ser106Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.5639,2.18776,-0.7529521034472353,Uncertain,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3197,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9925269160371808,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106R,NP_000240:p.Ser106Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09609,6.48299,-0.6654621984802228,Uncertain,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,1503388,Uncertain significance,1,91.46,H,-0.3717,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9937719590662284,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106T,NP_000240:p.Ser106Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.64909,1.51156,-0.3075665606001049,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,neutral,,,UP,neutral,neutral,damaging,1728528,Uncertain significance,1,91.46,H,-0.2685,0.0226,-22.1238,loss_of_function,-4.35654698427664,0.4354888513574803,0.8925398064356299,Pathogenic,0.9302,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106V,NP_000240:p.Ser106Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00494,1.9102,-1.2079724892138335,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3333,0.0226,-22.1238,loss_of_function,-7.24203689793718,0.07927232283008932,0.9948884817887996,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106W,NP_000240:p.Ser106Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.81628,1.71599,-2.036062005807368,Uncertain,Uncertain,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3656,0.0226,-22.1238,loss_of_function,-6.65729591559162,0.1514591642509242,0.9919404400232656,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S106Y,NP_000240:p.Ser106Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.23314,0.08741,-1.921434141816453,Neutral,Neutral,False,0.021,,,,,,,,,,3.0,,True,3.0,,uncertain,,,UP,neutral,neutral,damaging,,,,91.46,H,-0.3607,0.0226,-22.1238,loss_of_function,-3.19112686629915,0.5793610952826977,0.9927809233673482,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107A,NP_000240:p.Ile107Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.8123,3.03401,3.6799346629338414,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.3847,0.446,-22.1238,loss_of_function,-4.00549892893468,0.47882607427695567,0.9352643562491522,Pathogenic,0.9218,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107C,NP_000240:p.Ile107Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.81935,3.00544,3.892470175663361,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.3647,0.446,-22.1238,loss_of_function,-4.98945336201649,0.35735594515878,0.9895230438398156,Pathogenic,0.9709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107D,NP_000240:p.Ile107Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.75493,4.18231,5.231806178423806,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.5087,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9858582746732286,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107E,NP_000240:p.Ile107Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.7206,4.05238,4.419214480588239,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4896,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.984588689526601,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107F,NP_000240:p.Ile107Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.48014,2.40952,1.812995675273602,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.59,H,-0.3456,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9834959171351928,Pathogenic,0.9124,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107G,NP_000240:p.Ile107Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.68093,5.24728,5.797068228633937,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4753,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.985943942723425,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107H,NP_000240:p.Ile107His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.10934,3.75204,3.2335373608652205,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4753,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9864719484496872,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107K,NP_000240:p.Ile107Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.41451,4.83537,6.262634113523752,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,659950,Pathogenic/Likely pathogenic,2,93.59,H,-0.4821,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9847707165504882,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107L,NP_000240:p.Ile107Leu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02568,0.93946,0.9214422789863758,Neutral,Neutral,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,483571,Uncertain significance,2,93.59,H,-0.2699,0.446,-22.1238,loss_of_function,-2.05934228239153,0.7190809999033103,0.7917722456215618,Pathogenic,0.4868,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107M,NP_000240:p.Ile107Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.03224,1.68299,1.5347014720619627,Neutral,Neutral,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,93.59,H,-0.1878,0.446,-4.9292,loss_of_function,-2.32656655228842,0.6860919045991514,0.3229424811887711,Uncertain,0.3527,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107N,NP_000240:p.Ile107Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.40932,2.9983,3.64798151987422,Uncertain,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4218,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9881233447282158,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107P,NP_000240:p.Ile107Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.8636,9.16633,10.31734805372848,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.5287,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9853164975281684,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107Q,NP_000240:p.Ile107Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.05164,2.55918,3.133671410905586,Uncertain,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4494,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9853153257314118,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107R,NP_000240:p.Ile107Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.18166,4.53776,5.067449711107379,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90167,Pathogenic,3,93.59,H,-0.5089,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.9879397629552252,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107S,NP_000240:p.Ile107Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.2418,4.1017,4.965854166065644,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.4252,0.446,-22.1238,loss_of_function,-4.98945336201649,0.35735594515878,0.9847872002404844,Pathogenic,0.9581,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107T,NP_000240:p.Ile107Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.85177,2.48946,3.6524969848344457,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,93.59,H,-0.342,0.446,-22.1238,loss_of_function,-4.70641629862028,0.3922971451575286,0.9515419084492296,Pathogenic,0.8919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107V,NP_000240:p.Ile107Val,"hg19,3:g.37045904A>G",,3.9774716009e-06,0.563,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.38118,1.13061,1.721935804092566,Neutral,Neutral,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,188068,Uncertain significance,2,93.59,H,-0.1409,0.446,-4.6661,loss_of_function,-0.499675252292066,0.9116234075168055,0.2973549574699888,Benign,0.0864,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107W,NP_000240:p.Ile107Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.57824,4.96837,3.55861473748441,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.59,H,-0.4345,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.98785502836632,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I107Y,NP_000240:p.Ile107Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.48948,3.75816,3.316592875746128,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.7,,True,0.7,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,93.59,H,-0.4434,0.446,-22.1238,loss_of_function,-5.48225888643297,0.29651862518906236,0.987278999285568,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108A,NP_000240:p.Ser108Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.43591,-1.34932,-1.0464874309962091,Neutral,Neutral,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,94.38,H,-0.1919,0.2192,-8.8359,loss_of_function,-2.57283525647771,0.6556897942067572,0.7299641623561988,Pathogenic,0.6439,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108C,NP_000240:p.Ser108Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.03281,-1.06122,-0.8439169716297695,Neutral,Neutral,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.2424,0.2192,-8.8359,loss_of_function,-3.04751860649364,0.5970896742437943,0.8782003993570666,Pathogenic,0.721,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108D,NP_000240:p.Ser108Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.75543,2.58129,1.1073545006194536,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3584,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9880535395732232,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108E,NP_000240:p.Ser108Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.77176,4.60272,1.9012401186055188,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3316,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.987435822422227,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108F,NP_000240:p.Ser108Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.63628,3.72585,1.1052599929226727,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3378,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9874328763412958,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108G,NP_000240:p.Ser108Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.4346,0.76633,1.1834099919722,Neutral,Neutral,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,94.38,H,-0.2689,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.830579625192759,Pathogenic,0.7147,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108H,NP_000240:p.Ser108His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.46792,5.09388,1.4423842671052416,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.339,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9770267372996376,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108I,NP_000240:p.Ser108Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.24845,2.87007,-1.2762182698018203,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,1729288,Uncertain significance,1,94.38,H,-0.3409,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9480549684852282,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108K,NP_000240:p.Ser108Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.45745,6.69354,4.864698451826712,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3483,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.98167025595312,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108L,NP_000240:p.Ser108Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.33414,0.81497,-1.084761391082803,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.2694,0.2192,-8.8359,loss_of_function,-5.90854551604976,0.24389312730017984,0.9542254976872148,Pathogenic,0.9267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108M,NP_000240:p.Ser108Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.8683,7.82211,-0.220847261549853,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3082,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9613486749857711,Pathogenic,0.9599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108N,NP_000240:p.Ser108Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.38785,1.21973,-0.3898877426263497,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,455427,Uncertain significance,1,94.38,H,-0.282,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9780909343529518,Pathogenic,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108P,NP_000240:p.Ser108Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.2702,6.07585,4.051960586716252,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.4132,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9883745709116458,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108Q,NP_000240:p.Ser108Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.94279,3.9398,0.6865195401829488,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3017,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9872575515275156,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108R,NP_000240:p.Ser108Arg,"hg38,3:g.37004418C>G",,,0.839,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.14849,6.42177,3.166480643105448,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,"1729388, 1729156","Uncertain significance, Uncertain significance","1, 1",94.38,H,-0.3536,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.986926800338362,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108T,NP_000240:p.Ser108Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.66326,0.38027,-0.8759220913704385,Neutral,Neutral,False,0.02,,,,,,,,,,0.0,,False,0.0,,neutral,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.1656,0.2192,-5.5141,loss_of_function,-1.65703331024385,0.7687464327212913,0.0357264912387126,Benign,0.2378,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108V,NP_000240:p.Ser108Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.42447,0.70748,-1.904893063290205,Neutral,Neutral,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3152,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9026737455499017,Pathogenic,0.9655,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108W,NP_000240:p.Ser108Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",29.0327,20.1034,3.073014919014254,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3475,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9878762774236536,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S108Y,NP_000240:p.Ser108Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.81268,4.46667,2.3549615435582,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.38,H,-0.3426,0.2192,-22.1238,loss_of_function,-5.90854551604976,0.24389312730017984,0.9858318475854562,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109A,NP_000240:p.His109Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.53897,0.49728,1.7244035376986566,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2442,0.5681,-22.1238,loss_of_function,-3.87131201742234,0.49539157865333344,0.937155691956298,Pathogenic,0.9736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109C,NP_000240:p.His109Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22351,0.12449,1.962103904695897,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2309,0.5681,-8.8359,loss_of_function,-3.47871475333234,0.5438580916920422,0.9769356551121312,Pathogenic,0.5766,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109D,NP_000240:p.His109Asp,"hg19,3:g.37045910C>G, hg38,3:g.37004419C>G",,,0.854,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.23384,1.73912,2.325251685973169,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2914,0.5681,-22.1238,loss_of_function,-4.80410667035924,0.38023717401479235,0.9890157619316464,Pathogenic,0.9919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109E,NP_000240:p.His109Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.55202,1.87075,1.7652169039092858,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.3029,0.5681,-22.1238,loss_of_function,-4.80410667035924,0.38023717401479235,0.9699655326587636,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109F,NP_000240:p.His109Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.52492,-1.33878,-1.1473770797645038,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.1878,0.5681,-6.836,loss_of_function,-1.97774313385082,0.72915449393507,0.842569918563558,Pathogenic,0.5919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109G,NP_000240:p.His109Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.69741,2.41701,3.279017868166321,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.3268,0.5681,-22.1238,loss_of_function,-5.43298871095778,0.3026010761394602,0.9628330271164371,Pathogenic,0.982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109I,NP_000240:p.His109Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.36012,-0.69524,0.279334034945452,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.3304,0.5681,-22.1238,loss_of_function,-4.65918148242914,0.3981283290301806,0.9856965589729548,Pathogenic,0.973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109K,NP_000240:p.His109Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.03979,2.36871,1.8955632196251908,Uncertain,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.2871,0.5681,-22.1238,loss_of_function,-5.24367635300325,0.32597187034623926,0.9909991028746878,Pathogenic,0.9817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109L,NP_000240:p.His109Leu,"hg19,3:g.37045911A>T",,,0.872,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.29654,-0.77483,-0.3742612810637341,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.294,0.5681,-22.1238,loss_of_function,-3.85862703944118,0.4969575514884848,0.9611057273262648,Pathogenic,0.7472,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109M,NP_000240:p.His109Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.01856,-0.10782,0.2510489425834455,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.1763,0.5681,-8.8359,loss_of_function,-3.62199811593026,0.5261696216063461,0.9535790820336912,Pathogenic,0.9495,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109N,NP_000240:p.His109Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22419,0.48878,1.5370226084922056,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2509,0.5681,-22.1238,loss_of_function,-4.49905949938864,0.4178955431415792,0.9699927517443628,Pathogenic,0.8786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109P,NP_000240:p.His109Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.83783,10.36293,5.096838328191082,Destabilizing,Destabilizing,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1729595,Conflicting classifications of pathogenicity,1,92.33,H,-0.4074,0.5681,-22.1238,loss_of_function,-5.43298871095778,0.3026010761394602,0.9891367546600988,Pathogenic,0.991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109Q,NP_000240:p.His109Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.68876,0.76939,1.4176071943047657,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.1395,0.5681,-7.836,loss_of_function,-4.06035083275997,0.4720545535479243,0.8767063749811588,Pathogenic,0.9568,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109R,NP_000240:p.His109Arg,"hg19,3:g.37045911A>G",,,0.862,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.07806,3.11905,1.182586551801987,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,574920,Uncertain significance,1,92.33,H,-0.2127,0.5681,-8.8359,loss_of_function,-3.59663417796395,0.5293008243492041,0.9703328585517236,Pathogenic,0.9012,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109S,NP_000240:p.His109Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.60721,1.40374,2.364843868124907,Neutral,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2502,0.5681,-22.1238,loss_of_function,-3.84193072812704,0.4990187273142531,0.9567918728803932,Pathogenic,0.9514,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109T,NP_000240:p.His109Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.04266,0.88605,1.778515449199977,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.295,0.5681,-22.1238,loss_of_function,-3.83725049138422,0.4995965070795959,0.965918185927955,Pathogenic,0.9768,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109V,NP_000240:p.His109Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.24338,-0.2568,0.5371134915552103,Uncertain,Uncertain,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,H,-0.2868,0.5681,-22.1238,loss_of_function,-4.65918148242914,0.3981283290301806,0.9788466500825734,Pathogenic,0.952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109W,NP_000240:p.His109Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.93304,-0.00306,-1.1668872287110592,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,H,-0.2821,0.5681,-22.1238,loss_of_function,-3.27496452808994,0.5690112546190432,0.989597764959121,Pathogenic,0.7177,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H109Y,NP_000240:p.His109Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.05925,-1.13912,-0.8919192736520248,Neutral,Neutral,False,0.024,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3070490,Uncertain significance,1,92.33,H,-0.122,0.5681,-3.7068,loss_of_function,-1.65413152981684,0.7691046603294922,0.2200593949511564,Benign,0.3048,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110A,NP_000240:p.Val110Ala,"hg19,3:g.37045914T>C",,,0.896,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.81348,2.68673,2.5828963737004704,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.2605,0.9774,-22.1238,loss_of_function,-3.84813432924188,0.49825288673964735,0.7597249350306265,Pathogenic,0.9247,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110C,NP_000240:p.Val110Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.49227,1.70612,2.3352715536234414,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.2073,0.9774,-6.2511,loss_of_function,-2.99563697178875,0.6034945123689974,0.4923633504266588,Uncertain,0.9464,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110D,NP_000240:p.Val110Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.8559,4.31531,3.786565044796201,Destabilizing,Destabilizing,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.4271,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.97139095116311,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110E,NP_000240:p.Val110Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.59955,3.4534,3.257773247971697,Destabilizing,Destabilizing,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.04,H,-0.3844,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9652137421294182,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110F,NP_000240:p.Val110Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.61492,0.39762,1.567708557513076,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.3376,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9707697096130924,Pathogenic,0.9683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110G,NP_000240:p.Val110Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.77028,4.61803,4.566878327621184,Destabilizing,Destabilizing,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,933468,Uncertain significance,2,92.04,H,-0.3863,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9690447809533704,Pathogenic,0.9627,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110H,NP_000240:p.Val110His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.6509,1.94966,2.51564379674358,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.43,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9742506759307854,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110I,NP_000240:p.Val110Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.9808,-0.84694,0.5423241720711743,Neutral,Neutral,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.0923,0.9774,-1.8137,loss_of_function,-0.549223067996675,0.9055066816107981,0.0161751530460456,Benign,0.1273,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110K,NP_000240:p.Val110Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.71575,5.42415,4.724259195693368,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.3555,0.9774,-8.8359,loss_of_function,-5.30182805545743,0.3187929862759404,0.972965803999427,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110L,NP_000240:p.Val110Leu,"hg38,3:g.37004422G>T",,,0.804,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.22814,-0.07177,0.1689749219483466,Neutral,Neutral,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2694093,Uncertain significance,1,92.04,H,-0.2611,0.9774,-22.1238,loss_of_function,-2.76255666702245,0.6322685020609695,0.8946060159384592,Pathogenic,0.9203,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110M,NP_000240:p.Val110Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.80532,0.08061,0.8632990081228289,Neutral,Neutral,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2746771,Uncertain significance,1,92.04,H,-0.2702,0.9774,-22.1238,loss_of_function,-2.97252392044441,0.6063478409751999,0.7594517179642319,Pathogenic,0.871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110N,NP_000240:p.Val110Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.25369,2.29966,2.477467449379185,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.4149,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.968540186739437,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110P,NP_000240:p.Val110Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.53129,9.14864,6.158865551530559,Destabilizing,Destabilizing,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.4648,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9658018755720902,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110Q,NP_000240:p.Val110Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.4945,2.25306,2.2033039223237814,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.04,H,-0.395,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9686586748776568,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110R,NP_000240:p.Val110Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.49024,5.67007,3.5644557362896405,Destabilizing,Destabilizing,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.4443,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.961462728206032,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110S,NP_000240:p.Val110Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.46458,3.20918,3.48658935073628,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.3641,0.9774,-22.1238,loss_of_function,-4.30700990985513,0.44160425124167113,0.9676224664810076,Pathogenic,0.9507,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110T,NP_000240:p.Val110Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.30139,1.6034,2.2661466127817853,Neutral,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.04,H,-0.2795,0.9774,-22.1238,loss_of_function,-4.30700990985513,0.44160425124167113,0.8649731850036855,Pathogenic,0.8348,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110W,NP_000240:p.Val110Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.25563,4.25782,2.9045664428993376,Destabilizing,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.3782,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9622461034247584,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V110Y,NP_000240:p.Val110Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.60363,1.93027,2.714913286652894,Uncertain,Uncertain,False,0.037,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.04,H,-0.3811,0.9774,-22.1238,loss_of_function,-5.30182805545743,0.3187929862759404,0.9641871061943031,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111C,NP_000240:p.Ala111Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.34194,0.88639,1.8920752588030847,Uncertain,Uncertain,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.2894,0.5505,-22.1238,loss_of_function,-3.21692839629455,0.5761758713794206,0.8685052381814564,Pathogenic,0.9395,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111D,NP_000240:p.Ala111Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.61688,4.27857,5.140723321073281,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1730286,Likely pathogenic,1,94.15,S,-0.3711,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9841067738370544,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111E,NP_000240:p.Ala111Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.45517,7.75442,6.383566912226924,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3567,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9884136099482522,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111F,NP_000240:p.Ala111Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",30.91426,10.18469,6.059938906706763,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3395,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9857742857566044,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111G,NP_000240:p.Ala111Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4751,1.74932,2.325341213442149,Neutral,Uncertain,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.15,S,-0.2032,0.5505,-6.5141,loss_of_function,-2.72103513989437,0.6373943748573699,0.4677133693517289,Uncertain,0.2338,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111H,NP_000240:p.Ala111His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.88672,8.07857,6.206547627043338,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3436,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9887392438247096,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111I,NP_000240:p.Ala111Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.69383,6.58776,4.1492643223943935,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.329,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9838016332941194,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111K,NP_000240:p.Ala111Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",10.32628,14.28435,8.27187255550896,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3614,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9843910211835024,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111L,NP_000240:p.Ala111Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.78034,4.52483,5.068857659866946,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.2659,0.5505,-8.8359,loss_of_function,-5.32032756345969,0.3165092040700723,0.9857793721022918,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111M,NP_000240:p.Ala111Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.19171,5.61054,5.1908292443349,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.2925,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9871904643004804,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111N,NP_000240:p.Ala111Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.18785,3.07415,3.334284978750482,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3414,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9851150543076244,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111P,NP_000240:p.Ala111Pro,"hg19,3:g.37045916G>C, hg38,3:g.37004425G>C",,,0.894,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.18718,9.79048,8.259551724318687,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.4108,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9873831334146952,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111Q,NP_000240:p.Ala111Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.95597,6.23673,5.175184190953888,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3389,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9831344475943986,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111R,NP_000240:p.Ala111Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.74607,14.60068,7.428747765999226,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3721,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.98771900331824,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111S,NP_000240:p.Ala111Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.11776,1.26429,1.8605669827188265,Neutral,Neutral,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.15,S,-0.1587,0.5505,-3.4437,loss_of_function,-1.62481841981277,0.7727233921907811,0.1363314334892548,Benign,0.1743,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111T,NP_000240:p.Ala111Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.53066,2.44898,2.447276632362164,Uncertain,Uncertain,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1730187,Conflicting classifications of pathogenicity,1,94.15,S,-0.26,0.5505,-22.1238,loss_of_function,-3.21692839629455,0.5761758713794206,0.8922400165040665,Pathogenic,0.9237,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111V,NP_000240:p.Ala111Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.26337,3.85646,2.50951579066036,Destabilizing,Uncertain,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90171,Likely pathogenic,3,94.15,S,-0.257,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.98568916294285,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111W,NP_000240:p.Ala111Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",43.03106,10.47823,7.841719084740442,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3504,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.9874760308879258,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A111Y,NP_000240:p.Ala111Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",21.22164,13.19592,6.977793127001274,Destabilizing,Destabilizing,False,0.059,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.15,S,-0.3586,0.5505,-22.1238,loss_of_function,-5.32032756345969,0.3165092040700723,0.990276734061362,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112A,NP_000240:p.His112Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.88519,0.86497,0.7799784976400367,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.213,0.9075,-22.1238,loss_of_function,-4.55675724665556,0.41077270027944635,0.964543273211792,Pathogenic,0.871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112C,NP_000240:p.His112Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.55831,1.11224,1.2096348711914222,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.2675,0.9075,-22.1238,loss_of_function,-4.55675724665556,0.41077270027944635,0.9825349122226508,Pathogenic,0.4572,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112D,NP_000240:p.His112Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.10467,0.48878,0.8662283266848416,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,628998,Uncertain significance,2,95.18,E,-0.2602,0.9075,-22.1238,loss_of_function,-3.50108527486446,0.5410964291113508,0.8867534355678219,Pathogenic,0.9265,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112E,NP_000240:p.His112Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.80285,0.68231,0.7701384703430255,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.2717,0.9075,-22.1238,loss_of_function,-3.92407520826846,0.4888779115674592,0.9220421297112849,Pathogenic,0.9322,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112F,NP_000240:p.His112Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.92858,-0.2051,-0.3243494971370414,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.1668,0.9075,-8.8359,loss_of_function,-2.82927108208414,0.6240325428141522,0.833242108607213,Pathogenic,0.6862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112G,NP_000240:p.His112Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.31216,1.91701,1.6134144368916283,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.2955,0.9075,-22.1238,loss_of_function,-5.53675838598338,0.28979060910956794,0.9823766399927604,Pathogenic,0.8834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112I,NP_000240:p.His112Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.50119,0.04898,-0.0621351396504232,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.2992,0.9075,-22.1238,loss_of_function,-4.28185042362143,0.4447102142198372,0.9418067652712594,Pathogenic,0.9095,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112K,NP_000240:p.His112Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12591,0.79796,0.6318264303838983,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.1749,0.9075,-6.2511,loss_of_function,-2.78156150451253,0.6299223364397024,0.6819323715186695,Pathogenic,0.6722,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112L,NP_000240:p.His112Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.22566,0.32007,-0.3442095597910599,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.1737,0.9075,-4.6661,loss_of_function,-2.48159919795332,0.666952974123006,0.3380620342834147,Uncertain,0.5491,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112M,NP_000240:p.His112Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.48483,0.18571,0.1492859076030422,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.2129,0.9075,-22.1238,loss_of_function,-4.28185042362143,0.4447102142198372,0.940805494671826,Pathogenic,0.8918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112N,NP_000240:p.His112Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.84515,0.53707,0.5236913480709371,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.1357,0.9075,-5.6661,loss_of_function,-3.04833833350578,0.5969884781490783,0.8094226935131099,Pathogenic,0.5443,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112P,NP_000240:p.His112Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.17606,0.81497,4.418370373954715,Uncertain,Uncertain,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.3762,0.9075,-22.1238,loss_of_function,-5.53675838598338,0.28979060910956794,0.988116888995461,Pathogenic,0.9656,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112Q,NP_000240:p.His112Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.22115,0.01259,0.6208796168899058,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.1053,0.9075,-7.251,loss_of_function,-2.89058544826541,0.6164632248392223,0.3839697855492736,Uncertain,0.7081,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112R,NP_000240:p.His112Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.10896,0.52143,0.2047892469576534,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455429,Uncertain significance,2,95.18,E,-0.1616,0.9075,-4.9292,loss_of_function,-1.14859489994259,0.8315136476160883,0.1831226702395786,Benign,0.2891,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112S,NP_000240:p.His112Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.01192,0.99864,1.0432315493615325,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.1393,0.9075,-6.5141,loss_of_function,-3.27811463973307,0.5686223702813518,0.8631705852043419,Pathogenic,0.8015,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112T,NP_000240:p.His112Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69887,0.55816,0.8027362649463817,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.1959,0.9075,-8.8359,loss_of_function,-4.55675724665556,0.41077270027944635,0.9515419084492296,Pathogenic,0.8926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112V,NP_000240:p.His112Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38937,0.01599,0.0428520219200068,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.18,E,-0.2556,0.9075,-22.1238,loss_of_function,-4.28185042362143,0.4447102142198372,0.9721702961573246,Pathogenic,0.8501,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112W,NP_000240:p.His112Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.01756,0.23061,-0.4229305702085606,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.2508,0.9075,-22.1238,loss_of_function,-3.36081963215088,0.5584123587503871,0.9810776353893352,Pathogenic,0.6411,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H112Y,NP_000240:p.His112Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.67074,0.02857,-0.1615266809909538,Neutral,Neutral,False,0.083,,,,,,,Uncertain,Uncertain,Uncertain,40.2,,False,40.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.18,E,-0.1119,0.9075,-7.836,loss_of_function,-2.4269856018923,0.6736950755273995,0.8894693784922109,Pathogenic,0.3404,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113A,NP_000240:p.Val113Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.83729,3.50136,3.1523769583333148,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,1730897,Uncertain significance,1,96.98,E,-0.2357,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.7243635264607975,Pathogenic,0.8419,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113C,NP_000240:p.Val113Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.02205,2.88265,3.006046894158013,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.2636,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.8397200630708562,Pathogenic,0.8881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113D,NP_000240:p.Val113Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.77562,4.93265,4.528935484340187,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,90172,Conflicting classifications of pathogenicity,1,96.98,E,-0.4023,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9472803247479508,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113E,NP_000240:p.Val113Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.46357,4.15646,3.817110532922379,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.98,E,-0.3596,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.939295832199894,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113F,NP_000240:p.Val113Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.32412,1.90544,1.7362365994953624,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.245,1.2464,-8.8328,loss_of_function,-4.03802358439618,0.47481087401401406,0.2855022728925474,Benign,0.7714,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113G,NP_000240:p.Val113Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.50877,5.65816,5.502863576052784,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.3615,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.8998565120088755,Pathogenic,0.8907,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113H,NP_000240:p.Val113His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.49155,3.62143,2.707153722606725,Destabilizing,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.4053,1.2464,-22.1206,loss_of_function,-4.92228058322103,0.365648489853106,0.9580384955010371,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113I,NP_000240:p.Val113Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08745,1.35034,0.5875696373667288,Neutral,Neutral,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.0902,1.2464,-6.2479,loss_of_function,-0.547654802548533,0.9057002855014586,0.0856664481545035,Benign,0.1105,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113K,NP_000240:p.Val113Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.58261,5.71327,5.42614959154531,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.3985,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9533106935342124,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113L,NP_000240:p.Val113Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.24866,0.6915,0.4902527540740314,Neutral,Neutral,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.1292,1.2464,-1.1325,loss_of_function,-0.548139130532754,0.9056404947420486,0.0004962750032425,Benign,0.2421,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113M,NP_000240:p.Val113Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.57915,0.5051,1.4785471627851958,Neutral,Neutral,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.1614,1.2464,-5.663,loss_of_function,-1.97163473132444,0.7299085821515957,0.120979255254148,Benign,0.3086,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113N,NP_000240:p.Val113Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.83528,3.55646,2.973887563770356,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.3901,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9306332456437922,Pathogenic,0.9828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113P,NP_000240:p.Val113Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.6123,5.47551,7.481592438894623,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.44,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9313183645848044,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113Q,NP_000240:p.Val113Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.79328,2.46156,2.833138954901775,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.98,E,-0.3702,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9441109455737564,Pathogenic,0.9873,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113R,NP_000240:p.Val113Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.7622,7.32551,4.362357895416822,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.4195,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.9438757776695096,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113S,NP_000240:p.Val113Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.93131,4.21633,4.243013123575933,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.3393,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.929286905338674,Pathogenic,0.9506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113T,NP_000240:p.Val113Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.04603,2.3,2.6402059594892258,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.98,E,-0.2547,1.2464,-22.1206,loss_of_function,-5.29020310666224,0.32022809747994324,0.5356322163610461,Uncertain,0.7945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113W,NP_000240:p.Val113Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.58156,5.87891,3.22943373829779,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.3534,1.2464,-22.1206,loss_of_function,-4.92228058322103,0.365648489853106,0.9636631350850356,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V113Y,NP_000240:p.Val113Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.7302,3.22993,3.0369937017445805,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.3,,False,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.98,E,-0.2885,1.2464,-8.8328,loss_of_function,-4.92228058322103,0.365648489853106,0.9438351940424056,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114A,NP_000240:p.Thr114Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.70803,1.1568,0.1048744150346447,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,DOWN,neutral,neutral,neutral,483591,Uncertain significance,2,97.05,E,-0.1328,1.1662,-6.0255,loss_of_function,-0.11362815528212,0.9592812960763626,0.147478396470583,Benign,0.1133,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114C,NP_000240:p.Thr114Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.30152,1.26054,0.545178900357548,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,DOWN,neutral,neutral,neutral,,,,97.05,E,-0.1829,1.1662,-8.8328,loss_of_function,-2.1366773656543,0.709533908865902,0.7074497700630206,Pathogenic,0.2986,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114D,NP_000240:p.Thr114Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.64316,1.85918,0.3833832438125545,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.05,E,-0.3305,1.1662,-22.1206,loss_of_function,-3.81860166993422,0.5018987221754092,0.8065136658365172,Pathogenic,0.7829,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114E,NP_000240:p.Thr114Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.22319,1.3,-0.0435428602023818,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2261,1.1662,-6.5109,loss_of_function,-2.62853593137737,0.6488134918653573,0.7032290184938603,Pathogenic,0.6852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114F,NP_000240:p.Thr114Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48904,-0.07823,-0.4838208695574952,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.3221,1.1662,-22.1206,loss_of_function,-4.58566877401944,0.40720354418459076,0.9370071967645156,Pathogenic,0.3833,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114G,NP_000240:p.Thr114Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.99791,2.70204,1.2665574750654869,Uncertain,Uncertain,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,DOWN,neutral,neutral,neutral,,,,97.05,E,-0.2884,1.1662,-22.1206,loss_of_function,-5.0407040088246,0.3510290031014403,0.9376640641765426,Pathogenic,0.3175,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114H,NP_000240:p.Thr114His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.95796,0.91837,-0.3492969739234586,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2346,1.1662,-8.8328,loss_of_function,-3.49373649012193,0.5420036437155281,0.8568794535077484,Pathogenic,0.4001,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114I,NP_000240:p.Thr114Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.58006,-0.27415,-1.0629911158233885,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,1378725,Uncertain significance,2,97.05,E,-0.173,1.1662,-8.8328,loss_of_function,-3.54227094287229,0.5360120184491007,0.6932404626172739,Pathogenic,0.3171,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114K,NP_000240:p.Thr114Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.54823,0.5483,-0.0889972113448872,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2149,1.1662,-5.8329,loss_of_function,-2.57996814076038,0.6548092327237551,0.303284494856224,Benign,0.5924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114L,NP_000240:p.Thr114Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.05591,0.29048,-0.909156937548754,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2927,1.1662,-22.1206,loss_of_function,-4.40963711604444,0.428934823097719,0.8090465731581983,Pathogenic,0.1769,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114M,NP_000240:p.Thr114Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.02413,0.68537,-0.3709274735900758,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.1918,1.1662,-8.8328,loss_of_function,-3.79528202592972,0.504777554845886,0.9208111376621456,Pathogenic,0.0948,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114N,NP_000240:p.Thr114Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.65357,1.43673,0.0620386453784954,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.05,E,-0.1925,1.1662,-6.8329,loss_of_function,-2.66003139572973,0.6449253462430692,0.6532401489370311,Uncertain,0.1933,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114P,NP_000240:p.Thr114Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.6725,3.04966,1.372049572816736,Destabilizing,Uncertain,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.05,E,-0.3114,1.1662,-8.8328,loss_of_function,-5.0407040088246,0.3510290031014403,0.9787555546179036,Pathogenic,0.941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114Q,NP_000240:p.Thr114Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.48078,0.96224,-0.048582820832721,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2122,1.1662,-8.8328,loss_of_function,-3.01431933234276,0.601188156838264,0.631314816492689,Uncertain,0.3571,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114R,NP_000240:p.Thr114Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.01867,1.30204,-0.2691273224801838,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.3008,1.1662,-22.1206,loss_of_function,-3.09860721840291,0.5907827355518769,0.6145503001115864,Uncertain,0.4877,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114S,NP_000240:p.Thr114Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.25058,0.97857,0.4348215413069678,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,neutral,,,DOWN,neutral,neutral,neutral,,,,97.05,E,-0.0789,1.1662,-2.585,loss_of_function,-0.125475409851019,0.9578187410089772,0.0121836492819858,Benign,0.1067,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114V,NP_000240:p.Thr114Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07984,-0.0517,-0.8210224519539644,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.2283,1.1662,-22.1206,loss_of_function,-4.40963711604444,0.428934823097719,0.8705118414646558,Pathogenic,0.2049,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114W,NP_000240:p.Thr114Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.29692,0.43503,-0.7462026865181115,Uncertain,Uncertain,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.315,1.1662,-22.1206,loss_of_function,-4.58566877401944,0.40720354418459076,0.9560492382745388,Pathogenic,0.7749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T114Y,NP_000240:p.Thr114Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.44836,-0.5534,-0.4574460193552254,Neutral,Neutral,False,0.157,,,,,,,Uncertain,Uncertain,Uncertain,28.3,,False,28.3,,uncertain,,,UP,neutral,neutral,neutral,,,,97.05,E,-0.3236,1.1662,-22.1206,loss_of_function,-4.58566877401944,0.40720354418459076,0.8791445982883426,Pathogenic,0.5312,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115A,NP_000240:p.Ile115Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.15956,4.46497,3.88555411292842,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3312,1.0266,-22.1206,loss_of_function,-4.68068834858001,0.39547328554397854,0.9008679518548622,Pathogenic,0.9203,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115C,NP_000240:p.Ile115Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.15573,4.15578,3.657451332410727,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3112,1.0266,-22.1206,loss_of_function,-4.74414448042001,0.38763956452114345,0.8895198720872215,Pathogenic,0.9408,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115D,NP_000240:p.Ile115Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.17823,5.10952,5.117127731327018,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4553,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.985485968159628,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115E,NP_000240:p.Ile115Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.05463,4.45612,4.529426306543034,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4362,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9883010206507108,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115F,NP_000240:p.Ile115Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.91683,1.52279,1.6074798649473017,Uncertain,Uncertain,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.2244,1.0266,-8.8328,loss_of_function,-5.8609780503445,0.24976537707799237,0.9336014678523789,Pathogenic,0.8175,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115G,NP_000240:p.Ile115Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.9693,7.1085,5.984458140417657,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4219,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9897613235367064,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115H,NP_000240:p.Ile115His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.45266,3.01565,2.9789484091411067,Destabilizing,Uncertain,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4218,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9897165155375957,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115K,NP_000240:p.Ile115Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.07354,5.69694,5.518920153478268,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.12,E,-0.4287,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9912482477989796,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115L,NP_000240:p.Ile115Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.08816,0.79422,0.947798226226291,Neutral,Neutral,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,97.12,E,-0.1486,1.0266,-8.8328,loss_of_function,-0.607290240926341,0.898338232792287,0.5549680564571007,Uncertain,0.2658,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115M,NP_000240:p.Ile115Met,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.05053,1.53027,1.8501681787911075,Neutral,Neutral,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,823799,Uncertain significance,2,97.12,E,-0.1543,1.0266,-8.8328,loss_of_function,-3.23183124801668,0.574336099879793,0.7245653819573223,Pathogenic,0.3555,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115N,NP_000240:p.Ile115Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.19139,3.91293,3.5698707589533787,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,525605,Conflicting classifications of pathogenicity,1,97.12,E,-0.3684,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9914727673242862,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115P,NP_000240:p.Ile115Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.65653,6.8432,7.798247424511708,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.4753,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9895214483150416,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115Q,NP_000240:p.Ile115Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.0393,3.53946,3.3625840394147555,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3959,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.987026072928561,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115R,NP_000240:p.Ile115Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.87847,6.33741,4.6359304411516,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.4555,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9891695641517372,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115S,NP_000240:p.Ile115Ser,"hg19,3:g.37045929T>G",,,0.895,"cBioPortal,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.77078,5.21327,4.90822741717575,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,97.12,E,-0.3718,1.0266,-22.1206,loss_of_function,-5.33412909601268,0.3148053914900633,0.9884341937381051,Pathogenic,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115T,NP_000240:p.Ile115Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.93126,3.33912,3.33954685478975,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,943572,Uncertain significance,1,97.12,E,-0.2886,1.0266,-22.1206,loss_of_function,-5.33412909601268,0.3148053914900633,0.958521538671124,Pathogenic,0.9528,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115V,NP_000240:p.Ile115Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.34321,1.17755,1.3393546386333954,Neutral,Neutral,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,455430,Uncertain significance,2,97.12,E,-0.0706,1.0266,-1.3653,loss_of_function,-0.33529524408158,0.9319162789653702,0.109495392073952,Benign,0.0645,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115W,NP_000240:p.Ile115Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.93203,4.32449,3.5940612843385926,Destabilizing,Destabilizing,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.3811,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.9876339518493168,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I115Y,NP_000240:p.Ile115Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.51875,2.88231,2.7250222902846097,Uncertain,Uncertain,False,0.125,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,97.12,E,-0.39,1.0266,-22.1206,loss_of_function,-5.8609780503445,0.24976537707799237,0.990366700385528,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116A,NP_000240:p.Thr116Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.617,1.38265,0.4343995724101557,Neutral,Neutral,False,0.085,,,-0.0401,,,-0.00384,Neutral,,,13.1,,False,13.1,,uncertain,,,DOWN,neutral,neutral,damaging,483579,Uncertain significance,2,97.07,E,-0.1203,1.3143,-6.2479,loss_of_function,-2.29147762487553,0.6904236667216233,0.2835745734834954,Benign,0.1779,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116C,NP_000240:p.Thr116Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.75887,1.11803,0.7418113078625501,Neutral,Neutral,False,0.085,,,0.00572,,,0.00369,Neutral,,,13.1,,False,13.1,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.07,E,-0.2371,1.3143,-22.1206,loss_of_function,-3.00444900468005,0.6024066583616252,0.502745999317846,Uncertain,0.4489,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116D,NP_000240:p.Thr116Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.52897,0.78673,0.1912301839617697,Neutral,Neutral,False,0.085,,,0.12888,,,-0.00116,Neutral,,,13.1,,False,13.1,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.07,E,-0.3168,1.3143,-22.1206,loss_of_function,-3.90211446003966,0.4915889872364097,0.7433487626355606,Pathogenic,0.9633,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116E,NP_000240:p.Thr116Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.25364,0.96463,0.1058893442298136,Neutral,Neutral,False,0.085,,,0.13486,,,-0.0087,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.2922,1.3143,-22.1206,loss_of_function,-3.90211446003966,0.4915889872364097,0.6245537159938555,Uncertain,0.898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116F,NP_000240:p.Thr116Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.92484,-0.06293,-0.4797238161795025,Uncertain,Uncertain,False,0.085,,,0.04227,,,0.00602,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.3085,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.5652660736952263,Uncertain,0.5078,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116G,NP_000240:p.Thr116Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.41118,3.25442,1.644733675537047,Uncertain,Uncertain,False,0.085,,,-0.05915,,,0.03811,Neutral,,,13.1,,False,13.1,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.07,E,-0.2747,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.9371670923972568,Pathogenic,0.6339,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116H,NP_000240:p.Thr116His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.10718,0.25102,-0.2486794010405008,Uncertain,Uncertain,False,0.085,,,0.0253,,,-0.00939,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.2888,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.7265892622829303,Pathogenic,0.673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116I,NP_000240:p.Thr116Ile,"hg19,3:g.37004441C>T",,,,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.07762,-0.70476,-0.7635497418724929,Neutral,Neutral,False,0.085,,,-0.03114,,,0.0304,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,576398,Uncertain significance,2,97.07,E,-0.1351,1.3143,-4.078,loss_of_function,-1.78858699647892,0.7525060025594026,0.0079233276835831,Benign,0.1422,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116K,NP_000240:p.Thr116Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.32742,0.87483,0.2212719773053206,Neutral,Neutral,False,0.085,,,-0.12194,,,0.02524,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,90176,Conflicting classifications of pathogenicity,1,97.07,E,-0.2844,1.3143,-22.1206,loss_of_function,-4.15289607019614,0.46062975422522123,0.3416572721943394,Uncertain,0.8507,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116L,NP_000240:p.Thr116Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.83809,-0.05884,-0.964881917749747,Neutral,Neutral,False,0.085,,,-0.02107,,,0.0344,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.1876,1.3143,-4.189,loss_of_function,-1.82919586047485,0.7474927989118736,0.0190931729098188,Benign,0.1138,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116M,NP_000240:p.Thr116Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.49618,0.50306,-0.3493927817543107,Neutral,Neutral,False,0.085,,,-0.02658,,,0.00123,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.1731,1.3143,-7.8328,loss_of_function,-2.5232352474609,0.6618129634277792,0.0937839159105931,Benign,0.0843,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116N,NP_000240:p.Thr116Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.85243,0.93401,0.0489318533073945,Neutral,Neutral,False,0.085,,,-0.03554,,,-0.00823,Neutral,,,13.1,,False,13.1,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.07,E,-0.2569,1.3143,-22.1206,loss_of_function,-3.90211446003966,0.4915889872364097,0.7763997614210688,Pathogenic,0.3846,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116P,NP_000240:p.Thr116Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.3825,3.22313,1.1559738257412029,Destabilizing,Uncertain,False,0.085,,,-0.03037,,,-0.14989,Neutral,,,13.1,,False,13.1,,uncertain,,,-,uncertain,uncertain,damaging,1731711,Uncertain significance,1,97.07,E,-0.3656,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.9434942787343836,Pathogenic,0.9438,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116Q,NP_000240:p.Thr116Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.96532,0.39626,0.078762464606209,Neutral,Neutral,False,0.085,,,-0.07965,,,-0.00883,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.1853,1.3143,-6.2479,loss_of_function,-2.64040036565294,0.6473488159465205,0.0330015667836106,Benign,0.5701,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116R,NP_000240:p.Thr116Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.6425,0.67075,-0.0781366161606644,Neutral,Neutral,False,0.085,,,-0.48351,,,-0.00921,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.2194,1.3143,-8.8328,loss_of_function,-4.1484067116144,0.46118396989644267,0.4739859238043662,Uncertain,0.7922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116S,NP_000240:p.Thr116Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.4243,1.17687,0.534064389354883,Neutral,Neutral,False,0.085,,,-0.01725,,,0.01142,Neutral,,,13.1,,False,13.1,,neutral,,,DOWN,neutral,neutral,damaging,,,,97.07,E,-0.0972,1.3143,-8.8328,loss_of_function,-2.1017107748703,0.713850568412881,0.2397570631981614,Benign,0.228,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116V,NP_000240:p.Thr116Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40093,-0.52857,-0.701905093713166,Neutral,Neutral,False,0.085,,,-0.04307,,,0.00508,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.1197,1.3143,-3.511,loss_of_function,-1.36297819577831,0.8050478218111449,0.0063800236059522,Benign,0.11,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116W,NP_000240:p.Thr116Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.49159,0.78605,-0.7999230180835226,Uncertain,Uncertain,False,0.085,,,0.092,,,-0.03958,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.3014,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.834286153981826,Pathogenic,0.8904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T116Y,NP_000240:p.Thr116Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.9456,-0.15442,-0.3166590790249873,Uncertain,Uncertain,False,0.085,,,-0.05012,,,0.01981,Neutral,,,13.1,,False,13.1,,uncertain,,,UP,neutral,neutral,damaging,,,,97.07,E,-0.31,1.3143,-22.1206,loss_of_function,-4.94021829708433,0.3634340616785863,0.7664464301713798,Pathogenic,0.6716,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117A,NP_000240:p.Thr117Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.7297,0.98401,0.2680915767937075,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,DOWN,neutral,neutral,damaging,422124,Uncertain significance,2,97.41,E,-0.2056,0.5307,-8.8359,loss_of_function,-4.00161526916438,0.4793055158424272,0.7427203490473993,Pathogenic,0.6116,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117C,NP_000240:p.Thr117Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.00814,1.10646,0.7088206119431175,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.41,E,-0.3092,0.5307,-22.1238,loss_of_function,-4.00161526916438,0.4793055158424272,0.975543434207744,Pathogenic,0.9256,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117D,NP_000240:p.Thr117Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.69784,4.51871,1.1704162137586929,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.41,E,-0.3889,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9662130356915256,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117E,NP_000240:p.Thr117Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.01862,5.99252,1.511348792609596,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3643,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9714843044367196,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117F,NP_000240:p.Thr117Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",12.16332,4.12721,0.2251774882709767,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3806,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9744482569218212,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117G,NP_000240:p.Thr117Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.34351,2.62993,1.154943265897072,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.41,E,-0.2791,0.5307,-8.8359,loss_of_function,-6.65249598386008,0.15205172047871868,0.9702533508411376,Pathogenic,0.7456,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117H,NP_000240:p.Thr117His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.76551,5.03537,0.3369070653973066,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3609,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9609508734016484,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117I,NP_000240:p.Thr117Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.16375,3.78333,0.3854084098381088,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.2993,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9788915953336832,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117K,NP_000240:p.Thr117Lys,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.07345,10.68605,1.3680762881037725,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,1732140,Likely pathogenic,1,97.41,E,-0.3565,0.5307,-22.1238,loss_of_function,-5.22729702264472,0.3279939145655924,0.9090568392159002,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117L,NP_000240:p.Thr117Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.71536,1.5898,0.0162798126233393,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3512,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9736601295078804,Pathogenic,0.9601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117M,NP_000240:p.Thr117Met,"hg19,3:g.37045935C>T, hg38,3:g.37004444C>T",,3.977914618e-06,0.868,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.77715,3.42653,0.5574613020610594,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,17094,Pathogenic,3,97.41,E,-0.3181,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.960600951403439,Pathogenic,0.8832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117N,NP_000240:p.Thr117Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.03576,2.83435,0.6903926361619508,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.41,E,-0.329,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9728603340320876,Pathogenic,0.9647,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117P,NP_000240:p.Thr117Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.71673,4.50884,5.364840210236334,Destabilizing,Destabilizing,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.41,E,-0.4377,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9667002695108108,Pathogenic,0.9813,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117Q,NP_000240:p.Thr117Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.92434,3.63946,1.039886871534063,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3385,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9668104050917524,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117R,NP_000240:p.Thr117Arg,"hg19,3:g.37045935C>G",,,0.878,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",11.29416,8.70238,0.7130477472118615,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,90178,Likely pathogenic,3,97.41,E,-0.2915,0.5307,-8.8359,loss_of_function,-6.42117890676361,0.1806080380046655,0.969400558714696,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117S,NP_000240:p.Thr117Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.7205,1.02313,0.9376908909272638,Neutral,Neutral,False,0.051,,,,,,,,,,2.9,,False,2.9,,neutral,,,DOWN,neutral,neutral,damaging,,,,97.41,E,-0.1413,0.5307,-3.3442,loss_of_function,-0.511645436853217,0.9101456766226448,0.0164566406929398,Benign,0.1831,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117V,NP_000240:p.Thr117Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.65898,0.96293,0.1574407377766107,Uncertain,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.2868,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.9683896714306176,Pathogenic,0.9616,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117W,NP_000240:p.Thr117Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.05872,5.78367,0.4520154205137233,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3735,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.965317060417214,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T117Y,NP_000240:p.Thr117Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",16.88202,5.32959,0.4324204729389608,Destabilizing,Uncertain,False,0.051,,,,,,,,,,2.9,,False,2.9,,uncertain,,,UP,neutral,neutral,damaging,,,,97.41,E,-0.3821,0.5307,-22.1238,loss_of_function,-6.65249598386008,0.15205172047871868,0.971793871261563,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118A,NP_000240:p.Lys118Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.69424,0.79796,0.292116380534318,Neutral,Neutral,False,0.019,,,-0.03105,,,-0.01082,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.2597,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.5328769964143787,Uncertain,0.9422,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118C,NP_000240:p.Lys118Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.89713,0.70476,0.955070208597,Neutral,Neutral,False,0.019,,,-0.0315,,,-0.00322,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.3299,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.5860563355670995,Uncertain,0.8406,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118D,NP_000240:p.Lys118Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.84663,3.79388,2.0950586399830384,Uncertain,Uncertain,False,0.019,,,-0.00294,,,0.01704,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.3687,0.6758,-22.1238,loss_of_function,-4.98850244159605,0.35747333720699725,0.9646441024459738,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118E,NP_000240:p.Lys118Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.59727,2.58639,1.5467823877561595,Uncertain,Uncertain,False,0.019,,,0.06557,,,-0.00659,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479692,Uncertain significance,1,96.42,E,-0.2117,0.6758,-7.836,loss_of_function,-4.98850244159605,0.35747333720699725,0.7117910778812553,Pathogenic,0.9676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118F,NP_000240:p.Lys118Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.50185,-0.03129,-0.9196831250396575,Uncertain,Uncertain,False,0.019,,,0.01622,,,0.06801,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.42,E,-0.3308,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.9340467828407856,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118G,NP_000240:p.Lys118Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.94056,2.92415,2.1566013384553555,Uncertain,Uncertain,False,0.019,,,0.35632,,,-0.03062,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.3189,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.8711508453051987,Pathogenic,0.9709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118H,NP_000240:p.Lys118His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.67518,0.98571,0.1935101890420193,Uncertain,Uncertain,False,0.019,,,0.01451,,,0.00662,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.2698,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.81337120956957,Pathogenic,0.8885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118I,NP_000240:p.Lys118Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.54136,4.35306,-0.4543942805173728,Uncertain,Uncertain,False,0.019,,,-0.00425,,,0.06394,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.42,E,-0.2184,0.6758,-6.5141,loss_of_function,-2.93514240015031,0.6109626259124821,0.2429628867406024,Benign,0.9443,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118L,NP_000240:p.Lys118Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.04172,-0.02075,-1.1205851965598816,Neutral,Neutral,False,0.019,,,0.00926,,,-0.02126,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.42,E,-0.2968,0.6758,-22.1238,loss_of_function,-3.29590770347909,0.566425799304109,0.7879609842350273,Pathogenic,0.9064,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118M,NP_000240:p.Lys118Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.06342,-0.19014,-0.554864026411136,Neutral,Neutral,False,0.019,,,0.00751,,,-0.07142,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.1969,0.6758,-7.836,loss_of_function,-2.48917959370128,0.6660171669155649,0.148123678746946,Benign,0.7376,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118N,NP_000240:p.Lys118Asn,"hg19,3:g.37045939A>C, hg38,3:g.37004448A>C",,,0.767,"cBioPortal,COSMIC,saturation","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.88222,1.02721,0.7133180892224034,Neutral,Neutral,False,0.019,,,-0.14729,,,0.00128,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.278,0.6758,-22.1238,loss_of_function,-4.98850244159605,0.35747333720699725,0.7898283885621951,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118P,NP_000240:p.Lys118Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.55333,4.82007,5.905241168798967,Destabilizing,Destabilizing,False,0.019,,,-0.0612,,,-0.09257,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.434,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.9510618236582458,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118Q,NP_000240:p.Lys118Gln,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.38484,1.00034,0.4282365259460818,Neutral,Neutral,False,0.019,,,-0.07462,,,-0.02588,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1732336,Uncertain significance,2,96.42,E,-0.259,0.6758,-22.1238,loss_of_function,-4.75316338398552,0.3865261721283925,0.7584986994598427,Pathogenic,0.6359,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118R,NP_000240:p.Lys118Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.08222,-0.47585,-0.0446487716343951,Neutral,Neutral,False,0.019,,,0.05443,,,-0.46637,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.42,E,-0.0964,0.6758,-3.1356,loss_of_function,-1.03374111040686,0.8456924593329281,0.000518223442328,Benign,0.0782,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118S,NP_000240:p.Lys118Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.36879,1.66735,1.2373044518011207,Neutral,Neutral,False,0.019,,,-0.08434,,,-0.05909,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.2699,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.5899221206397297,Uncertain,0.9788,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118T,NP_000240:p.Lys118Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.9173,1.01361,0.8100631571345734,Neutral,Neutral,False,0.019,,,-0.15542,,,0.05323,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.2817,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.8214973325585586,Pathogenic,0.9485,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118V,NP_000240:p.Lys118Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.12891,0.38299,-0.1619098545164793,Uncertain,Uncertain,False,0.019,,,-0.02443,,,0.05756,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.42,E,-0.2819,0.6758,-22.1238,loss_of_function,-3.63739810768418,0.5242684776876094,0.920102492971518,Pathogenic,0.8995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118W,NP_000240:p.Lys118Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.27276,1.76599,-1.0329546721128762,Uncertain,Uncertain,False,0.019,,,0.00534,,,-0.06266,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.42,E,-0.3398,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.9364788694518948,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K118Y,NP_000240:p.Lys118Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.16855,-0.03673,-0.5929135511170153,Uncertain,Uncertain,False,0.019,,,0.00886,,,0.01562,Neutral,Uncertain,Uncertain,23.7,,False,23.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.42,E,-0.3157,0.6758,-22.1238,loss_of_function,-5.28231531207745,0.3212018533719424,0.931246426691663,Pathogenic,0.9828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119A,NP_000240:p.Thr119Ala,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.71793,0.6915,0.7177060233276752,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,DOWN,neutral,neutral,damaging,915442,Likely pathogenic,1,95.53,-,-0.2242,0.3283,-8.8359,loss_of_function,-3.30825705813859,0.5649012594935434,0.920168196667775,Pathogenic,0.2158,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119C,NP_000240:p.Thr119Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.79374,1.18912,1.1133530306743835,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.53,-,-0.26,0.3283,-8.8359,loss_of_function,-3.16385072298748,0.5827283616301212,0.9509564006341332,Pathogenic,0.5635,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119D,NP_000240:p.Thr119Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.09036,1.55272,0.9154727064274842,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,-,uncertain,uncertain,damaging,,,,95.53,-,-0.4076,0.3283,-22.1238,loss_of_function,-5.95753899698468,0.23784483455914923,0.9657075847955126,Pathogenic,0.8697,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119E,NP_000240:p.Thr119Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13614,1.77075,0.851745048632287,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3829,0.3283,-22.1238,loss_of_function,-5.95753899698468,0.23784483455914923,0.95858771961275,Pathogenic,0.7207,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119F,NP_000240:p.Thr119Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.22041,0.05782,-0.066048741611438,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3992,0.3283,-22.1238,loss_of_function,-6.19259906885617,0.20882644069783154,0.9792663310848394,Pathogenic,0.8057,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119G,NP_000240:p.Thr119Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.1033,1.98197,1.4963908082719302,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.53,-,-0.3655,0.3283,-22.1238,loss_of_function,-5.93169839887777,0.24103488145868518,0.977162592287047,Pathogenic,0.5729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119H,NP_000240:p.Thr119His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02528,-0.21395,0.1832924943223751,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3795,0.3283,-22.1238,loss_of_function,-6.19259906885617,0.20882644069783154,0.9682369943820724,Pathogenic,0.7148,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119I,NP_000240:p.Thr119Ile,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.77419,0.83061,0.0274342630366764,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,1732779,Uncertain significance,1,95.53,-,-0.2501,0.3283,-8.8359,loss_of_function,-4.06733011218219,0.47119295473392886,0.8670970069098451,Pathogenic,0.3829,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119K,NP_000240:p.Thr119Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.90384,2.45204,0.7964186809304652,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3751,0.3283,-22.1238,loss_of_function,-4.47680738264296,0.4206425885365418,0.9225354290512956,Pathogenic,0.53,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119L,NP_000240:p.Thr119Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.43627,0.56905,-0.2310209870260487,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3698,0.3283,-22.1238,loss_of_function,-4.42727867767459,0.4267569552036248,0.9669719806818454,Pathogenic,0.2734,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119M,NP_000240:p.Thr119Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.33037,1.35306,0.2383256288594704,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3368,0.3283,-22.1238,loss_of_function,-4.35261575600253,0.43597416530088473,0.9708099860528,Pathogenic,0.1469,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119N,NP_000240:p.Thr119Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.21014,0.75816,0.5791131970479563,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,-,uncertain,uncertain,damaging,,,,95.53,-,-0.3476,0.3283,-22.1238,loss_of_function,-5.95753899698468,0.23784483455914923,0.9663689686963794,Pathogenic,0.4248,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119P,NP_000240:p.Thr119Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-2.55823,-0.06973,3.1879342789064995,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,-,uncertain,uncertain,damaging,,,,95.53,-,-0.3804,0.3283,-7.251,loss_of_function,-4.02542637267504,0.4763660120192399,0.8353096987048358,Pathogenic,0.2453,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119Q,NP_000240:p.Thr119Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.37822,1.97993,0.7137835881198867,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.2842,0.3283,-7.836,loss_of_function,-4.58681082671129,0.4070625566720854,0.8214814975631314,Pathogenic,0.4661,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119R,NP_000240:p.Thr119Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.06123,2.30986,0.3000384267794381,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.305,0.3283,-7.836,loss_of_function,-3.83009812760907,0.5004794733248381,0.8384399997676995,Pathogenic,0.4155,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119S,NP_000240:p.Thr119Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.60781,0.86088,0.7768439366990298,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,neutral,,,DOWN,neutral,neutral,damaging,,,,95.53,-,-0.1879,0.3283,-8.8359,loss_of_function,-2.6879411012962,0.6414798660207879,0.8801145819211127,Pathogenic,0.3394,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119V,NP_000240:p.Thr119Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.55116,0.58503,0.0515306886509969,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.2244,0.3283,-6.2511,loss_of_function,-3.80305412436905,0.5038180817552597,0.7270016551349151,Pathogenic,0.2289,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119W,NP_000240:p.Thr119Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.17896,0.13163,-0.3650935079834466,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.3921,0.3283,-22.1238,loss_of_function,-6.19259906885617,0.20882644069783154,0.9941585799309122,Pathogenic,0.9451,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T119Y,NP_000240:p.Thr119Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.03046,-0.16327,0.0564120665990075,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,22.2,,False,22.2,,uncertain,,,UP,neutral,neutral,damaging,,,,95.53,-,-0.4007,0.3283,-22.1238,loss_of_function,-5.84723961611874,0.2514614001083047,0.9780643154858666,Pathogenic,0.8273,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120C,NP_000240:p.Ala120Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.5993,0.77211,0.7086223555940182,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.135,2.2278,-22.1206,loss_of_function,-1.99780253555302,0.7266781413389769,0.1259354537823994,Benign,0.2501,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120D,NP_000240:p.Ala120Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.28561,0.84898,0.0026137889988836,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1357,2.2278,-6.2479,loss_of_function,-1.61194402797971,0.774312748349665,0.1089746608876985,Benign,0.1771,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120E,NP_000240:p.Ala120Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.27585,0.11905,-0.128395337395426,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1141,2.2278,-4.8329,loss_of_function,-1.15784286568626,0.830371977275272,0.0052235919400143,Benign,0.1471,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120F,NP_000240:p.Ala120Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.40111,0.06939,-0.4252990016972252,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1173,2.2278,-8.8328,loss_of_function,-3.10352152198865,0.5901760600077501,0.7322007400379521,Pathogenic,0.1921,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120G,NP_000240:p.Ala120Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.16697,1.03912,0.69149572509302,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,405424,Uncertain significance,2,93.69,T,-0.0488,2.2278,-6.5109,loss_of_function,-2.30533369657561,0.6887131212310075,0.0936852378413424,Benign,0.0975,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120H,NP_000240:p.Ala120His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.25191,0.40204,-0.4390548575023534,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1163,2.2278,-7.8328,loss_of_function,-2.84497050627924,0.6220944336701272,0.1882579657793085,Benign,0.2371,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120I,NP_000240:p.Ala120Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.07013,0.28503,-0.3980023581259911,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1746,2.2278,-22.1206,loss_of_function,-2.44326078495192,0.671685888393111,0.0505954278926275,Benign,0.1099,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120K,NP_000240:p.Ala120Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.11558,-0.51259,-0.1097345701284319,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1051,2.2278,-2.1464,loss_of_function,-1.19442287552406,0.8258561395812187,0.0025669867789588,Benign,0.1618,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120L,NP_000240:p.Ala120Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.23878,0.51088,-0.6092238422848861,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1794,2.2278,-22.1206,loss_of_function,-2.87124441783915,0.6188508938045403,0.5478002563419708,Uncertain,0.0965,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120M,NP_000240:p.Ala120Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.44387,0.59932,-0.3070915123116025,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1381,2.2278,-22.1206,loss_of_function,-2.65743826567119,0.6452454706639171,0.6367281310827337,Uncertain,0.1215,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120N,NP_000240:p.Ala120Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.2951,1.01259,-0.0401673619082432,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1031,2.2278,-5.663,loss_of_function,-1.68244652432655,0.7656091467940712,0.0337140665736074,Benign,0.134,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120P,NP_000240:p.Ala120Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.26318,1.38163,1.3629113504796342,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1806,2.2278,-7.2479,loss_of_function,-2.49165289509023,0.6657118354602019,0.0801252659345713,Benign,0.1648,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120Q,NP_000240:p.Ala120Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.1596,0.08401,-0.0037377597934779,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1049,2.2278,-6.5109,loss_of_function,-1.57685495244005,0.7786445287585304,0.0349362577207498,Benign,0.1606,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120R,NP_000240:p.Ala120Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.32932,0.41667,-0.4497591516954613,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1244,2.2278,-3.8329,loss_of_function,-1.61762287511188,0.7736116891631878,0.0345867464843674,Benign,0.1705,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120S,NP_000240:p.Ala120Ser,"hg19,3:g.37045943G>T, hg38,3:g.37004452G>T",,,0.521,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3837,0.12483,0.1239586715903678,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1732985,Uncertain significance,1,93.69,T,-0.0115,2.2278,-4.8329,loss_of_function,-0.248527725222943,0.9426278133257688,0.0037286667381726,Benign,0.0804,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120T,NP_000240:p.Ala120Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46637,0.78844,-0.0323650486139803,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.026,2.2278,-6.5109,loss_of_function,-0.110305996046939,0.9596914198561648,0.1120555139484145,Benign,0.0729,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120V,NP_000240:p.Ala120Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.37912,0.26837,-0.3315116560138387,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1720333,Uncertain significance,2,93.69,T,-0.0179,2.2278,-5.511,loss_of_function,-1.15157628617433,0.8311455925940824,0.0227401928355559,Benign,0.0767,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120W,NP_000240:p.Ala120Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.62014,0.22823,-0.8367220057493241,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.196,2.2278,-22.1206,loss_of_function,-3.50004091374065,0.5412253565050289,0.9011757000360398,Pathogenic,0.4812,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A120Y,NP_000240:p.Ala120Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.42692,-0.06429,-0.3430292844150645,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,84.6,,False,84.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.69,T,-0.1365,2.2278,-8.8328,loss_of_function,-2.43836883418496,0.672289804460079,0.4936869424676198,Uncertain,0.2845,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121A,NP_000240:p.Asp121Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.01364,0.97041,0.638792773997864,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,92.08,T,-0.062,2.1452,-4.7454,loss_of_function,-1.61926158470812,0.7734093888741195,0.0654318040299985,Benign,0.079,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121C,NP_000240:p.Asp121Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.08522,1.26054,1.0984626106113156,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,T,-0.1922,2.1452,-22.1206,loss_of_function,-2.86642031920145,0.61944643346034,0.6920671799137932,Pathogenic,0.3295,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121E,NP_000240:p.Asp121Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.43102,0.43912,0.2370071761133824,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.001,2.1452,-3.585,loss_of_function,-0.0649101014988484,0.9652955870683807,0.0041329111444334,Benign,0.0873,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121F,NP_000240:p.Asp121Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.73654,0.27415,0.0618117266279666,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.2508,2.1452,-22.1206,loss_of_function,-3.26331083658382,0.5704499141385885,0.7394748268685009,Pathogenic,0.355,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121G,NP_000240:p.Asp121Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.25888,1.1517,1.1653954649254128,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,182514,Uncertain significance,2,92.08,T,-0.0716,2.1452,-4.4406,loss_of_function,-1.45493386253792,0.7936958055602977,0.0133242595486985,Benign,0.0861,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121H,NP_000240:p.Asp121His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.20401,0.10136,-0.0145055847531672,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1733309,Uncertain significance,2,92.08,T,-0.0779,2.1452,-6.0255,loss_of_function,-1.73409352552399,0.7592332744029378,0.0694498603748473,Benign,0.1811,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121I,NP_000240:p.Asp121Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.16765,0.58912,0.3225913850475054,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.1752,2.1452,-8.8328,loss_of_function,-3.52564608813445,0.5380643728912179,0.6151570225116383,Uncertain,0.1981,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121K,NP_000240:p.Asp121Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.41729,0.41531,0.4976596246244702,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.1353,2.1452,-5.2479,loss_of_function,-1.9020844664028,0.7384946298141631,0.0357932862456348,Benign,0.2142,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121L,NP_000240:p.Asp121Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.36797,0.47551,0.0230282662051556,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.1689,2.1452,-8.8328,loss_of_function,-2.96731022970572,0.6069914761537388,0.2379535062794104,Benign,0.2019,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121M,NP_000240:p.Asp121Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.54894,1.03946,0.2536679565308675,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.1754,2.1452,-22.1206,loss_of_function,-3.16857843712005,0.5821447207349646,0.4665523149247514,Uncertain,0.3241,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121N,NP_000240:p.Asp121Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17409,0.08367,0.3776024033127861,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,T,-0.0259,2.1452,-4.189,loss_of_function,-0.507610101331739,0.9106438427067122,0.003433219387993,Benign,0.0747,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121P,NP_000240:p.Asp121Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.09917,1.74796,2.40988029424614,Neutral,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,T,-0.2877,2.1452,-22.1206,loss_of_function,-2.8275232539608,0.6242483138912268,0.4939727576919852,Uncertain,0.5681,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121Q,NP_000240:p.Asp121Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.0543,0.60884,0.5745708189959225,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.0996,2.1452,-6.8329,loss_of_function,-0.959562585809714,0.854849870141465,0.0193071782632322,Benign,0.178,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121R,NP_000240:p.Asp121Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12978,0.33503,0.2589872136927901,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.2524,2.1452,-22.1206,loss_of_function,-2.61170759410646,0.6508909664235432,0.1981745281915812,Benign,0.2577,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121S,NP_000240:p.Asp121Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.13917,0.51905,0.55889430452736,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,mixed_effects,destabilizing,neutral,,,,92.08,T,-0.0638,2.1452,-3.8329,loss_of_function,-1.49216153293449,0.7891000135420873,0.0212847462330722,Benign,0.0719,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121T,NP_000240:p.Asp121Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.32716,0.28707,0.4555949465756115,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,T,-0.098,2.1452,-4.663,loss_of_function,-1.24204735700852,0.8199768511501634,0.0291098032901785,Benign,0.1015,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121V,NP_000240:p.Asp121Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.20124,0.51395,0.4380473411198932,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,843234,Uncertain significance,1,92.08,T,-0.1299,2.1452,-8.8328,loss_of_function,-3.28063563198865,0.568311151342247,0.5451972708791573,Uncertain,0.1202,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121W,NP_000240:p.Asp121Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.3151,-0.15374,-0.5032993494675408,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.2313,2.1452,-22.1206,loss_of_function,-3.26331083658382,0.5704499141385885,0.8714313124500407,Pathogenic,0.749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D121Y,NP_000240:p.Asp121Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.47445,0.13605,0.1084922404851557,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,T,-0.1957,2.1452,-22.1206,loss_of_function,-3.26331083658382,0.5704499141385885,0.68787027638141,Pathogenic,0.1906,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122A,NP_000240:p.Gly122Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.53701,-0.54048,-0.6338844061058285,Neutral,Neutral,False,0.009,,,-0.02676,,,0.01273,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.0502,2.5235,-2.3868,loss_of_function,0.216208896228956,1.0,2.0128035337753944e-05,Benign,0.0737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122C,NP_000240:p.Gly122Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.19046,0.65442,0.1336029890010048,Neutral,Neutral,False,0.009,,,-0.04035,,,0.02112,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2106,2.5235,-22.1174,loss_of_function,-2.00452764274417,0.7258479203334329,0.0074599927595168,Benign,0.1502,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122D,NP_000240:p.Gly122Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.24526,0.13707,0.3206637283009267,Neutral,Neutral,False,0.009,,,0.02823,,,0.01369,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1132,2.5235,-2.9228,loss_of_function,-0.990104291033298,0.8510794670086915,7.459918505030588e-06,Benign,0.216,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122E,NP_000240:p.Gly122Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.14482,0.26259,-0.1828458162396717,Neutral,Neutral,False,0.009,,,0.00691,,,-0.02437,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1122,2.5235,-2.8755,loss_of_function,-0.905828332145693,0.8614834158740596,8.835689155963413e-06,Benign,0.194,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122F,NP_000240:p.Gly122Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.09427,-1.37279,-1.0779757753657653,Uncertain,Uncertain,False,0.009,,,-0.00183,,,0.03994,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1809,2.5235,-8.8296,loss_of_function,-2.8751350120191,0.6183705961794715,0.0088729013007419,Benign,0.4675,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122H,NP_000240:p.Gly122His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.11165,0.58741,-0.7291823808023967,Uncertain,Uncertain,False,0.009,,,-0.02359,,,-0.05379,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2234,2.5235,-22.1174,loss_of_function,-2.80300160358009,0.6272755354146934,0.010945279236273,Benign,0.3521,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122I,NP_000240:p.Gly122Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.57171,-0.34898,-0.4735884838134785,Neutral,Neutral,False,0.009,,,0.03148,,,-0.00246,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2944,2.5235,-22.1174,loss_of_function,-3.17024440000337,0.581939056001173,0.0330820871516759,Benign,0.3253,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122K,NP_000240:p.Gly122Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.5614,1.04592,-0.2773245226889681,Neutral,Neutral,False,0.009,,,-0.06036,,,-0.00656,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1756,2.5235,-8.8296,loss_of_function,-2.62250005693796,0.6495586264192003,0.003506214311624,Benign,0.4094,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122L,NP_000240:p.Gly122Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.99287,-0.5102,-1.383903788073304,Neutral,Neutral,False,0.009,,,0.00964,,,-0.03372,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2626,2.5235,-22.1174,loss_of_function,-2.6395422178711,0.6474547551225209,0.0090707184082117,Benign,0.2794,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122M,NP_000240:p.Gly122Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.29164,-0.44898,-1.0676595751868734,Neutral,Neutral,False,0.009,,,-0.00585,,,0.01715,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1279,2.5235,-7.8297,loss_of_function,-1.89021747903706,0.7399596209144577,0.0067147248893819,Benign,0.3293,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122N,NP_000240:p.Gly122Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.41501,-0.70136,-0.1942373857268797,Neutral,Neutral,False,0.009,,,-0.17184,,,-0.02589,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1385,2.5235,-7.8297,loss_of_function,-1.40180562432441,0.800254538097742,0.002100159216138,Benign,0.2325,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122P,NP_000240:p.Gly122Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.57461,6.28367,5.467145707815942,Destabilizing,Destabilizing,False,0.009,,,0.12541,,,-0.01426,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.3085,2.5235,-22.1174,loss_of_function,-3.80761639852472,0.5032548645857144,0.031637810548706,Benign,0.9155,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122Q,NP_000240:p.Gly122Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.77449,0.07449,-0.3898147992726991,Neutral,Neutral,False,0.009,,,-0.01407,,,0.03201,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.1238,2.5235,-4.3703,loss_of_function,-1.20441343220037,0.8246227956695166,6.549171138309627e-05,Benign,0.2401,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122R,NP_000240:p.Gly122Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.05725,1.64184,-0.851587289391485,Neutral,Neutral,False,0.009,,,-0.05554,,,-0.00165,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2566500,Uncertain significance,2,89.54,-,-0.2274,2.5235,-22.1174,loss_of_function,-2.28796419658581,0.6908574028517234,0.0100530768234314,Benign,0.3085,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122S,NP_000240:p.Gly122Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.61867,-0.58095,0.1319672751234935,Neutral,Neutral,False,0.009,,,0.0182,,,-0.02676,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.0529,2.5235,-1.7744,loss_of_function,-0.385138399420222,0.9257630930950864,9.464941734229065e-08,Benign,0.0773,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122T,NP_000240:p.Gly122Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.26043,-0.75578,-0.1066321343422382,Neutral,Neutral,False,0.009,,,0.01385,,,-0.01425,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2337,2.5235,-22.1174,loss_of_function,-1.46050884207638,0.7930075689290069,0.0013442584774993,Benign,0.1229,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122V,NP_000240:p.Gly122Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.70734,-0.26088,-0.3928314491821183,Neutral,Neutral,False,0.009,,,0.03528,,,-0.0288,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2376,2.5235,-22.1174,loss_of_function,-0.639516176331833,0.8943599098099934,0.0025958022212627,Benign,0.1914,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122W,NP_000240:p.Gly122Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.14235,0.14116,-1.3897787729810167,Uncertain,Uncertain,False,0.009,,,0.01869,,,0.13717,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2485,2.5235,-22.1174,loss_of_function,-3.29744020028414,0.5662366110871306,0.0358626744211494,Benign,0.4079,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G122Y,NP_000240:p.Gly122Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.08973,-1.00748,-0.6612442036663796,Uncertain,Uncertain,False,0.009,,,-0.02633,,,0.08471,Neutral,Uncertain,Uncertain,55.7,,False,55.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.54,-,-0.2491,2.5235,-22.1174,loss_of_function,-3.29744020028414,0.5662366110871306,0.0664480128147411,Benign,0.3786,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123A,NP_000240:p.Lys123Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14584,0.68367,0.0468584294654239,Neutral,Neutral,False,0.016,,,0.41605,,,-0.00342,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,0.0151,2.682,-4.4374,gain_of_function,-1.56899176937458,0.7796152463345982,0.050833155850517,Benign,0.2831,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123C,NP_000240:p.Lys123Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33645,1.11122,0.7950957181102916,Neutral,Neutral,False,0.016,,,0.39701,,,0.04329,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.1453,2.682,-22.1174,loss_of_function,-2.59420397614063,0.6530518050384831,0.8963066920570915,Pathogenic,0.5607,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123D,NP_000240:p.Lys123Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.17237,-0.22755,-0.1665469940840097,Neutral,Neutral,False,0.016,,,0.43451,,,0.02752,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.102,2.682,-6.0224,loss_of_function,-1.76209239909817,0.7557767863036191,0.2617914168436716,Benign,0.556,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123E,NP_000240:p.Lys123Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.26519,-0.0585,-0.2859286631671492,Neutral,Neutral,False,0.016,,,0.22041,,,0.06227,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,629087,Uncertain significance,2,90.21,S,-0.022,2.682,-6.8297,loss_of_function,-1.7878400001855,0.7525982199763498,0.1219491213670625,Benign,0.2368,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123F,NP_000240:p.Lys123Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36303,0.13741,-0.0471611572500346,Neutral,Neutral,False,0.016,,,0.27455,,,-0.01063,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.21,S,-0.1462,2.682,-22.1174,loss_of_function,-3.51304863702726,0.5396195404488837,0.5520992628074155,Uncertain,0.7042,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123G,NP_000240:p.Lys123Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38375,1.23095,0.5288548868324713,Neutral,Neutral,False,0.016,,,0.39158,,,0.17954,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.0488,2.682,-5.3703,loss_of_function,-2.1998719783794,0.701732472631453,0.556648528985201,Uncertain,0.3932,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123H,NP_000240:p.Lys123His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.02494,0.40476,-0.200248261832327,Neutral,Neutral,False,0.016,,,0.38979,,,0.02174,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.0174,2.682,-8.8296,loss_of_function,-2.57511209136025,0.6554087167321665,0.6117594618957771,Uncertain,0.2941,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123I,NP_000240:p.Lys123Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.20398,0.46429,-0.1740989522573371,Neutral,Neutral,False,0.016,,,-0.11225,,,-0.16014,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.21,S,-0.0354,2.682,-6.8297,loss_of_function,-1.33875695324946,0.8080379576939286,0.1135101591413205,Benign,0.2644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123L,NP_000240:p.Lys123Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.12507,0.16259,-0.3559531385346154,Neutral,Neutral,False,0.016,,,-0.31683,,,-0.1019,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.21,S,-0.0325,2.682,-6.5078,loss_of_function,-1.90299703018467,0.7383819729301802,0.0944069582193294,Benign,0.2572,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123M,NP_000240:p.Lys123Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.10063,0.97279,-0.0623096102479564,Neutral,Neutral,False,0.016,,,-0.3548,,,-0.23433,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.0055,2.682,-6.5078,loss_of_function,-0.838654459262012,0.8697760956346378,0.0578707201573785,Benign,0.2191,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123N,NP_000240:p.Lys123Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.34554,0.36565,0.0184527167580123,Neutral,Neutral,False,0.016,,,0.39259,,,0.07378,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.001,2.682,-4.0224,loss_of_function,-1.06096894400027,0.8423311568670804,0.015382439258778,Benign,0.391,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123P,NP_000240:p.Lys123Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.90188,0.33571,0.5296886202644804,Neutral,Neutral,False,0.016,,,0.39099,,,-0.04323,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.1558,2.682,-3.7853,loss_of_function,-1.6054403634776,0.775115632040466,0.0123247765665419,Benign,0.4006,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123Q,NP_000240:p.Lys123Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.09861,0.20068,0.0955553139801757,Neutral,Neutral,False,0.016,,,0.11752,,,-0.01476,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,0.0172,2.682,-4.1859,gain_of_function,-1.45948659397838,0.7931337664482009,0.0045317468192276,Benign,0.1311,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123R,NP_000240:p.Lys123Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.14851,0.0381,-0.1500123092499988,Neutral,Neutral,False,0.016,,,0.13573,,,-0.05804,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.21,S,0.0693,2.682,-6.8297,gain_of_function,-0.387828224337055,0.9254310316001962,0.1646521902439619,Benign,0.0876,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123S,NP_000240:p.Lys123Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.38192,0.22789,-0.008136586735491,Neutral,Neutral,False,0.016,,,0.42547,,,0.22373,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,0.0126,2.682,-2.9471,gain_of_function,-0.904251426489221,0.8616780864068188,0.035142646733126,Benign,0.3454,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123T,NP_000240:p.Lys123Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3651,0.01327,-0.0224631624027582,Neutral,Neutral,False,0.016,,,0.38172,,,0.04919,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.0076,2.682,-4.5818,loss_of_function,-1.71771993996107,0.7612546094217009,0.1901969189335854,Benign,0.1694,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123V,NP_000240:p.Lys123Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.3442,0.27381,-0.0003672829542616,Neutral,Neutral,False,0.016,,,0.25863,,,-0.22405,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,90.21,S,-0.0163,2.682,-6.2447,loss_of_function,-0.540377989846856,0.9065986150873856,0.0662841461444213,Benign,0.2518,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123W,NP_000240:p.Lys123Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.41311,0.0051,-0.3839820252031767,Neutral,Neutral,False,0.016,,,-0.0609,,,0.04478,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.21,S,-0.1552,2.682,-22.1174,loss_of_function,-3.51304863702726,0.5396195404488837,0.926613530751891,Pathogenic,0.7586,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K123Y,NP_000240:p.Lys123Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.40229,0.32143,-0.0534062966031612,Neutral,Neutral,False,0.016,,,0.14749,,,0.03654,Neutral,Uncertain,Uncertain,106.8,,False,106.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.21,S,-0.1311,2.682,-22.1174,loss_of_function,-3.51304863702726,0.5396195404488837,0.9082756130080974,Pathogenic,0.6195,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124A,NP_000240:p.Cys124Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52774,0.69014,0.0210207204649687,Neutral,Neutral,False,0.031,,,-0.00259,,,-0.05835,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,93.15,S,-0.3434,0.7659,-6.8265,loss_of_function,-2.51071109745595,0.6633590818932774,0.8796442659498096,Pathogenic,0.7786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124D,NP_000240:p.Cys124Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.36063,0.71088,0.5822461565320427,Neutral,Neutral,False,0.031,,,0.44316,,,0.2543,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.15,S,-0.5287,0.7659,-22.1143,loss_of_function,-5.08172486147971,0.34596493905434067,0.9712007837245608,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124E,NP_000240:p.Cys124Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.78051,0.89388,0.317357142451502,Neutral,Neutral,False,0.031,,,-0.05023,,,0.30054,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.5163,0.7659,-22.1143,loss_of_function,-5.08172486147971,0.34596493905434067,0.9448948943201518,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124F,NP_000240:p.Cys124Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.7345,0.17857,-0.7734460576876923,Neutral,Neutral,False,0.031,,,0.36691,,,-0.75961,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.4154,0.7659,-22.1143,loss_of_function,-2.99254411781065,0.6038763281924058,0.9677348927173764,Pathogenic,0.5856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124G,NP_000240:p.Cys124Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.02454,1.29796,1.0850873789089854,Neutral,Neutral,False,0.031,,,0.51104,,,0.12587,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,93.15,S,-0.4139,0.7659,-22.1143,loss_of_function,-5.08587577700864,0.3454525045062503,0.9250332550918652,Pathogenic,0.5799,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124H,NP_000240:p.Cys124His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.08399,0.69422,-0.3483424103443999,Neutral,Neutral,False,0.031,,,0.13555,,,-0.18284,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.4431,0.7659,-5.6566,loss_of_function,-2.548030841794,0.6587519232576869,0.7348601111761937,Pathogenic,0.9126,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124I,NP_000240:p.Cys124Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.05319,0.74422,-0.4963136814120994,Neutral,Neutral,False,0.031,,,-0.72276,,,-0.51687,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.3774,0.7659,-8.8264,loss_of_function,-3.01868603586758,0.6006490830527846,0.931909792585124,Pathogenic,0.7834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124K,NP_000240:p.Cys124Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.84039,0.82143,-0.0047021302531924,Neutral,Neutral,False,0.031,,,-0.17546,,,0.35603,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.5169,0.7659,-22.1143,loss_of_function,-5.2749465695326,0.3221115317861735,0.9749514685811572,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124L,NP_000240:p.Cys124Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.50181,0.13844,-0.8391435447290257,Neutral,Neutral,False,0.031,,,0.09282,,,-0.45863,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.3936,0.7659,-5.5046,loss_of_function,-2.74870237419683,0.6339788279478078,0.8142634786917745,Pathogenic,0.7295,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124M,NP_000240:p.Cys124Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.07591,0.76361,-0.4430993966307966,Neutral,Neutral,False,0.031,,,-0.01368,,,-0.42299,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.3777,0.7659,-8.8264,loss_of_function,-2.88976097159434,0.61656500728394,0.931574244281436,Pathogenic,0.8426,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124N,NP_000240:p.Cys124Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52735,0.79762,0.0242994196670298,Neutral,Neutral,False,0.031,,,0.10712,,,0.27882,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.4033,0.7659,-8.8264,loss_of_function,-4.61183672133713,0.40397308570748247,0.9643031108000362,Pathogenic,0.8985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124P,NP_000240:p.Cys124Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.47939,4.38741,3.350547261646018,Uncertain,Uncertain,False,0.031,,,-0.56886,,,-0.06241,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.15,S,-0.5397,0.7659,-22.1143,loss_of_function,-5.46816827758549,0.29825812451800626,0.9766895298570316,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124Q,NP_000240:p.Cys124Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.48403,0.27381,0.0657963098189795,Neutral,Neutral,False,0.031,,,-0.07785,,,-0.25198,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.495,0.7659,-22.1143,loss_of_function,-4.80090112866945,0.38063290124550664,0.9649708246694484,Pathogenic,0.9678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124R,NP_000240:p.Cys124Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.73061,0.6915,-0.5210676165234573,Neutral,Neutral,False,0.031,,,0.07985,,,0.14919,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,479691,Uncertain significance,2,93.15,S,-0.4737,0.7659,-22.1143,loss_of_function,-4.63480948702122,0.4011370755021033,0.969106405686242,Pathogenic,0.9529,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124S,NP_000240:p.Cys124Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.51169,0.57279,0.5578261493465433,Neutral,Neutral,False,0.031,,,0.23061,,,0.08705,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,650036,Uncertain significance,2,93.15,S,-0.3363,0.7659,-7.2415,loss_of_function,-2.5407274396835,0.6596535353319228,0.8698816277910155,Pathogenic,0.7828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124T,NP_000240:p.Cys124Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.11594,0.20646,0.0506863898875947,Neutral,Neutral,False,0.031,,,0.47765,,,-0.04347,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.3739,0.7659,-7.8265,loss_of_function,-2.49850467338475,0.6648659767840864,0.8463966577775413,Pathogenic,0.7674,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124V,NP_000240:p.Cys124Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.35896,-0.31939,-0.5109026678079903,Neutral,Neutral,False,0.031,,,-0.44094,,,-0.1606,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.3542,0.7659,-4.6566,loss_of_function,-2.63340975352633,0.6482118137938648,0.2585391061959944,Benign,0.593,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124W,NP_000240:p.Cys124Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.7399,0.7068,-0.9612465650167018,Neutral,Neutral,False,0.031,,,-0.2839,,,-0.9461,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.15,S,-0.4185,0.7659,-22.1143,loss_of_function,-3.74485028898916,0.5110034016858019,0.9901144207672083,Pathogenic,0.894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C124Y,NP_000240:p.Cys124Tyr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.85256,0.10714,-0.6540313736415959,Neutral,Neutral,False,0.031,,,0.42173,,,-0.73421,Neutral,Uncertain,Uncertain,48.4,,False,48.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,182515,Uncertain significance,2,93.15,S,-0.4247,0.7659,-22.1143,loss_of_function,-2.97717540616388,0.6057736105515757,0.8783610226566396,Pathogenic,0.7527,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125C,NP_000240:p.Ala125Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.46468,2.65578,1.5064087491744726,Uncertain,Uncertain,False,0.061,,,0.04903,,,-0.00999,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3041,0.3896,-22.1174,loss_of_function,-2.9984299218324,0.6031497199771788,0.8976299476470331,Pathogenic,0.8818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125D,NP_000240:p.Ala125Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.58432,4.94762,2.945160335827906,Destabilizing,Uncertain,False,0.061,,,0.07417,,,0.09571,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3859,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.973109933093458,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125E,NP_000240:p.Ala125Glu,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.48386,6.18605,3.446172686419856,Destabilizing,Destabilizing,False,0.061,,,0.07058,,,-0.13584,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,433851,Conflicting classifications of pathogenicity,1,96.24,E,-0.3715,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9688577755283144,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125F,NP_000240:p.Ala125Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",22.97612,7.32041,3.249779972816118,Destabilizing,Destabilizing,False,0.061,,,0.01338,,,-0.07437,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3542,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9771971416553076,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125G,NP_000240:p.Ala125Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.09834,1.98605,1.7225236268865087,Neutral,Neutral,False,0.061,,,-0.00446,,,-0.0007,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.24,E,-0.2043,0.3896,-3.8297,loss_of_function,-1.48769696027802,0.7896511693667938,0.0319866381836549,Benign,0.1926,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125H,NP_000240:p.Ala125His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",20.86994,9.74082,3.21683268549597,Destabilizing,Destabilizing,False,0.061,,,0.06289,,,-0.12918,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3584,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9612906308830124,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125I,NP_000240:p.Ala125Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.69279,8.70136,2.287422218759056,Destabilizing,Uncertain,False,0.061,,,-0.04278,,,-0.05271,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3438,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9774818314086048,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125K,NP_000240:p.Ala125Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.63294,8.26667,3.960656597786604,Destabilizing,Destabilizing,False,0.061,,,-0.23867,,,-0.00622,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3762,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9542704018295812,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125L,NP_000240:p.Ala125Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.78927,5.63231,2.4355503004547483,Uncertain,Uncertain,False,0.061,,,-0.01354,,,-0.07039,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3485,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9541211540713568,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125M,NP_000240:p.Ala125Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.65395,3.85476,2.334414650237977,Uncertain,Uncertain,False,0.061,,,0.0259,,,0.01915,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3073,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9751262571090707,Pathogenic,0.9822,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125N,NP_000240:p.Ala125Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.07257,4.02619,2.091186045473929,Destabilizing,Uncertain,False,0.061,,,-0.0707,,,-0.068,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3562,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9779713356004688,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125P,NP_000240:p.Ala125Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.15143,3.69252,4.606007994117099,Uncertain,Uncertain,False,0.061,,,-0.10342,,,0.05476,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.4256,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.8446995445910195,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125Q,NP_000240:p.Ala125Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.22669,5.28707,2.621574281381182,Destabilizing,Uncertain,False,0.061,,,-0.00498,,,-0.05868,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3537,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9697401434453872,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125R,NP_000240:p.Ala125Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.07404,5.54558,3.533361864872832,Destabilizing,Destabilizing,False,0.061,,,-0.12274,,,-0.02198,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3868,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9396878990496776,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125S,NP_000240:p.Ala125Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.31518,1.97959,1.581299865927154,Neutral,Neutral,False,0.061,,,-0.00491,,,-0.01736,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1734470,Conflicting classifications of pathogenicity,1,96.24,E,-0.201,0.3896,-8.8296,loss_of_function,-2.57962517659116,0.6548515719830922,0.46852763782018,Uncertain,0.2972,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125T,NP_000240:p.Ala125Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.87026,3.32007,1.754551473255405,Destabilizing,Uncertain,False,0.061,,,0.00581,,,0.01347,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2676582,Uncertain significance,1,96.24,E,-0.2748,0.3896,-22.1174,loss_of_function,-3.48888283206301,0.5426028325105476,0.9197365640824676,Pathogenic,0.9231,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125V,NP_000240:p.Ala125Val,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.86771,4.12517,1.297629485390757,Destabilizing,Uncertain,False,0.061,,,0.03259,,,-0.08467,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"923911, 479669","Uncertain significance, Uncertain significance","1, 2",96.24,E,-0.2718,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9606913567666396,Pathogenic,0.969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125W,NP_000240:p.Ala125Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.3836,8.51905,4.310497682629584,Destabilizing,Destabilizing,False,0.061,,,0.05374,,,-0.2265,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3652,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.9735090442874792,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A125Y,NP_000240:p.Ala125Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",33.11076,8.2381,3.598929281216897,Destabilizing,Destabilizing,False,0.061,,,0.00235,,,-0.06781,Neutral,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.24,E,-0.3734,0.3896,-22.1174,loss_of_function,-5.72790823221201,0.2661929751931399,0.971530846093594,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126A,NP_000240:p.Tyr126Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.61436,2.93776,3.6246188473428353,Uncertain,Uncertain,False,0.056,,,-0.2944,,,-0.13502,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3304,1.315,-22.1174,loss_of_function,-3.72661364467091,0.5132547331149231,0.7336806177616618,Pathogenic,0.7079,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126C,NP_000240:p.Tyr126Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.63813,3.39116,3.974436324249156,Uncertain,Uncertain,False,0.056,,,-0.22345,,,-0.00604,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.2333,1.315,-8.8296,loss_of_function,-3.31848451043035,0.5636386705883448,0.6314361916610421,Uncertain,0.1433,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126D,NP_000240:p.Tyr126Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.55893,4.20102,4.412467698293644,Destabilizing,Destabilizing,False,0.056,,,-0.01259,,,-0.03587,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3446,1.315,-22.1174,loss_of_function,-4.51851491108169,0.41549375369793573,0.962836294581967,Pathogenic,0.7926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126E,NP_000240:p.Tyr126Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.51316,3.79082,3.8432723496444345,Destabilizing,Destabilizing,False,0.056,,,-0.25965,,,-0.00113,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3733,1.315,-22.1174,loss_of_function,-2.69449410233296,0.640670891686932,0.8615333970077284,Pathogenic,0.9128,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126F,NP_000240:p.Tyr126Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.40484,0.15204,0.3573047620171232,Neutral,Neutral,False,0.056,,,0.01836,,,-0.00683,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,96.84,E,-0.0746,1.315,-3.8297,loss_of_function,-0.108098786751357,0.9599639019845143,0.0006869609281469,Benign,0.0584,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126G,NP_000240:p.Tyr126Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.12544,4.98673,5.312288320919594,Destabilizing,Destabilizing,False,0.056,,,-0.45888,,,-0.09017,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.401,1.315,-22.1174,loss_of_function,-4.91611045296941,0.3664101984171833,0.9000258417901362,Pathogenic,0.7484,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126H,NP_000240:p.Tyr126His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.05787,1.87891,2.293355466969722,Uncertain,Uncertain,False,0.056,,,-0.12781,,,0.02214,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,1734756,Uncertain significance,2,96.84,E,-0.1703,1.315,-8.8296,loss_of_function,-0.571789835835797,0.9027207922331645,0.2590918365002065,Benign,0.2719,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126I,NP_000240:p.Tyr126Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.87599,1.83129,2.5775360719099383,Neutral,Uncertain,False,0.056,,,-0.06698,,,-0.05397,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3425,1.315,-22.1174,loss_of_function,-3.79848335675403,0.5043823474505995,0.6642175287487038,Uncertain,0.544,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126K,NP_000240:p.Tyr126Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.01467,4.4602,4.106269008721348,Uncertain,Uncertain,False,0.056,,,-0.41639,,,-0.19145,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3308,1.315,-8.8296,loss_of_function,-3.89016470400785,0.49306419620880926,0.4069453061355769,Uncertain,0.9309,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126L,NP_000240:p.Tyr126Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.46772,2.41293,1.955049420421656,Uncertain,Neutral,False,0.056,,,-0.13507,,,-0.08743,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.2518,1.315,-8.8296,loss_of_function,-3.00714446062036,0.602073901711425,0.3914540994492572,Uncertain,0.6059,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126M,NP_000240:p.Tyr126Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.58631,1.71769,2.3681456574460538,Neutral,Uncertain,False,0.056,,,-0.1297,,,-0.0469,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.2717,1.315,-22.1174,loss_of_function,-3.99940139754957,0.4795788204405474,0.7333084701859494,Pathogenic,0.6437,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126N,NP_000240:p.Tyr126Asn,"hg19,3:g.37045961T>A, hg38,3:g.37004470T>A",3.1843077315e-05,3.97766145328e-05,0.760,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.26056,2.8983,3.5404892937279167,Uncertain,Destabilizing,False,0.056,,,-0.33639,,,-0.07866,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,90184,Conflicting classifications of pathogenicity,1,96.84,E,-0.3236,1.315,-22.1174,loss_of_function,-3.74044228711074,0.5115475737930892,0.5274884617669213,Uncertain,0.4515,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126P,NP_000240:p.Tyr126Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.51,5.73469,5.878088265427961,Destabilizing,Destabilizing,False,0.056,,,-0.20239,,,-0.03967,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.4546,1.315,-22.1174,loss_of_function,-4.91611045296941,0.3664101984171833,0.9686137914295164,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126Q,NP_000240:p.Tyr126Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.39531,2.57211,3.485771039061841,Uncertain,Uncertain,False,0.056,,,-0.33493,,,-0.00652,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3481,1.315,-22.1174,loss_of_function,-4.51851491108169,0.41549375369793573,0.7408602856109874,Pathogenic,0.7725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126R,NP_000240:p.Tyr126Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.20457,3.06497,3.4424677640517523,Uncertain,Uncertain,False,0.056,,,-0.5616,,,-0.00208,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.394,1.315,-22.1174,loss_of_function,-3.33951462005715,0.5610424831574535,0.7658226364819942,Pathogenic,0.8334,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126S,NP_000240:p.Tyr126Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.79247,3.70952,4.3677125744285545,Destabilizing,Destabilizing,False,0.056,,,-0.4452,,,-0.02041,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.3352,1.315,-22.1174,loss_of_function,-3.24209263262143,0.5730693219976443,0.7386990852354313,Pathogenic,0.3987,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126T,NP_000240:p.Tyr126Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.04417,3.03367,3.6142601339332208,Destabilizing,Destabilizing,False,0.056,,,-0.05164,,,-0.01391,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.286,1.315,-8.8296,loss_of_function,-2.87148735527771,0.6188209029421209,0.5123056586540893,Uncertain,0.6333,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126V,NP_000240:p.Tyr126Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.73383,1.94592,2.829445225122195,Neutral,Uncertain,False,0.056,,,-0.08457,,,-0.00072,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.84,E,-0.332,1.315,-22.1174,loss_of_function,-2.05839798506593,0.7191975743240456,0.6176749089056557,Uncertain,0.4387,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y126W,NP_000240:p.Tyr126Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.3575,-0.07517,0.7473149173695459,Neutral,Neutral,False,0.056,,,-0.31923,,,0.00861,Neutral,Uncertain,Uncertain,24.7,,False,24.7,,uncertain,,,UP,neutral,neutral,neutral,,,,96.84,E,-0.144,1.315,-1.7423,loss_of_function,-1.45104524578447,0.7941758590701471,0.0064801652780689,Benign,0.1717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127A,NP_000240:p.Arg127Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.30954,0.57993,1.3108962217749824,Uncertain,Uncertain,False,0.04,,,0.1083,,,0.02077,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.2294,1.2177,-8.8391,loss_of_function,-3.37086038742034,0.5571728177736721,0.5405690949416416,Uncertain,0.843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127C,NP_000240:p.Arg127Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.92604,0.87143,1.5040908168405678,Neutral,Neutral,False,0.04,,,0.2144,,,0.0121,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.3061,1.2177,-22.1269,loss_of_function,-3.59195906779917,0.5298779712335155,0.6838703849469883,Pathogenic,0.3371,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127D,NP_000240:p.Arg127Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.6571,1.78367,1.9157507409617884,Neutral,Neutral,False,0.04,,,0.23134,,,0.02783,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.3883,1.2177,-22.1269,loss_of_function,-3.70729505187425,0.5156396321331042,0.9527457624264284,Pathogenic,0.9788,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127E,NP_000240:p.Arg127Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.21916,0.8602,1.3749778126730068,Neutral,Neutral,False,0.04,,,0.28663,,,0.01856,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.2539,1.2177,-6.5173,loss_of_function,-2.97430186834671,0.6061283515821988,0.3576845471671687,Uncertain,0.8341,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127F,NP_000240:p.Arg127Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.48041,-0.28878,0.4237133069852211,Uncertain,Uncertain,False,0.04,,,0.09061,,,0.09033,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.95,E,-0.2616,1.2177,-8.8391,loss_of_function,-4.16943475114244,0.45858803802125114,0.7197707423011697,Pathogenic,0.9069,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127G,NP_000240:p.Arg127Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.36358,2.44728,2.5310089202742283,Uncertain,Uncertain,False,0.04,,,0.11185,,,0.0108,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1735009,Uncertain significance,2,96.95,E,-0.3326,1.2177,-22.1269,loss_of_function,-4.05589139003787,0.47260507607725727,0.8487712264438468,Pathogenic,0.7759,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127H,NP_000240:p.Arg127His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.10162,0.69184,0.999429733463862,Uncertain,Uncertain,False,0.04,,,0.10213,,,0.07723,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.267,1.2177,-22.1269,loss_of_function,-4.58463875216001,0.4073307013821732,0.5786678195749173,Uncertain,0.2916,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127I,NP_000240:p.Arg127Ile,"hg19,3:g.37045965G>T, hg38,3:g.37004474G>T",,,0.914,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.0342,-0.4119,0.114801290790879,Neutral,Neutral,False,0.04,,,0.08986,,,0.01442,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,182516,Pathogenic/Likely pathogenic,2,96.95,E,-0.3267,1.2177,-22.1269,loss_of_function,-3.57260174235728,0.5322676518343177,0.7093058458428889,Pathogenic,0.6779,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127K,NP_000240:p.Arg127Lys,"hg19,3:g.37045965G>A, hg38,3:g.37004474G>A",,,0.548,"cBioPortal,COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.80027,0.8602,1.1795734747737414,Neutral,Neutral,False,0.04,,,0.10042,,,0.04049,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,90194,Pathogenic,3,96.95,E,-0.0819,1.2177,-1.4383,loss_of_function,-0.959681584249984,0.8548351796685949,0.0001033166649122,Benign,0.1244,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127L,NP_000240:p.Arg127Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.64878,0.4034,0.2154942180463603,Neutral,Neutral,False,0.04,,,0.17044,,,0.00855,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.2997,1.2177,-22.1269,loss_of_function,-3.79661840101182,0.5046125780458277,0.6097224706641812,Uncertain,0.6811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127M,NP_000240:p.Arg127Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.88203,0.56156,0.7765995834896394,Neutral,Neutral,False,0.04,,,0.11742,,,0.0331,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.2656,1.2177,-22.1269,loss_of_function,-3.06078853782674,0.5954514883499898,0.559231020441169,Uncertain,0.6928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127N,NP_000240:p.Arg127Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.74328,1.24082,1.5086323626863931,Neutral,Neutral,False,0.04,,,0.10035,,,-0.00402,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.2443,1.2177,-8.8391,loss_of_function,-2.89139710940181,0.6163630244846898,0.4382252401636874,Uncertain,0.9517,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127P,NP_000240:p.Arg127Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.69564,5.47381,4.681357003170308,Destabilizing,Destabilizing,False,0.04,,,0.11961,,,-0.07681,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.4393,1.2177,-22.1269,loss_of_function,-4.92882791613886,0.3648402152540298,0.9631681407346232,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127Q,NP_000240:p.Arg127Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.14224,0.17415,1.1213062928379784,Neutral,Neutral,False,0.04,,,0.15322,,,0.03193,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.188,1.2177,-5.6693,loss_of_function,-2.13962040196617,0.7091705881787004,0.0249610910570337,Benign,0.2076,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127S,NP_000240:p.Arg127Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.63355,1.22925,1.551814923794244,Neutral,Neutral,False,0.04,,,0.08918,,,0.02738,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2499204,Uncertain significance,1,96.95,E,-0.2978,1.2177,-22.1269,loss_of_function,-3.22802316616953,0.5748062112773473,0.4163198288312847,Uncertain,0.8911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127T,NP_000240:p.Arg127Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.52858,0.35986,1.159533160019916,Neutral,Neutral,False,0.04,,,0.07946,,,0.05943,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,824248,Pathogenic/Likely pathogenic,2,96.95,E,-0.3021,1.2177,-22.1269,loss_of_function,-3.3893782174089,0.5548867737008244,0.3879126300696235,Uncertain,0.7165,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127V,NP_000240:p.Arg127Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.32334,-0.35476,0.2323095281684034,Neutral,Neutral,False,0.04,,,0.08948,,,0.05964,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.95,E,-0.3138,1.2177,-22.1269,loss_of_function,-2.90383484600348,0.6148275738376402,0.4162154318820448,Uncertain,0.6926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127W,NP_000240:p.Arg127Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.5448,0.05374,0.1099104952632634,Uncertain,Uncertain,False,0.04,,,0.06621,,,-0.00189,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.95,E,-0.315,1.2177,-22.1269,loss_of_function,-4.58463875216001,0.4073307013821732,0.938114840896984,Pathogenic,0.572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R127Y,NP_000240:p.Arg127Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.02995,-0.46156,0.4606381314069852,Uncertain,Uncertain,False,0.04,,,0.11766,,,0.04177,Neutral,Uncertain,Uncertain,54.4,,True,54.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.95,E,-0.3187,1.2177,-22.1269,loss_of_function,-4.31399214804074,0.4407422871654653,0.7123580279882811,Pathogenic,0.8121,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128C,NP_000240:p.Ala128Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.12161,0.59354,0.9829593016622532,Neutral,Neutral,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.1742,0.9215,-6.2479,loss_of_function,-0.711447282647765,0.8854799449680818,0.0290300621953535,Benign,0.3846,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128D,NP_000240:p.Ala128Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.22889,3.97347,2.6728845465973814,Destabilizing,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3369,0.9215,-22.1206,loss_of_function,-5.10029568454111,0.34367235293525206,0.9044425014360252,Pathogenic,0.9732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128E,NP_000240:p.Ala128Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.60452,6.46259,3.727729065016829,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3226,0.9215,-22.1206,loss_of_function,-5.10029568454111,0.34367235293525206,0.920230143343739,Pathogenic,0.9711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128F,NP_000240:p.Ala128Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",19.53276,5.68231,3.539512994896804,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.2375,0.9215,-8.8328,loss_of_function,-4.56618533266227,0.40960879391745625,0.5817753101736928,Uncertain,0.8562,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128G,NP_000240:p.Ala128Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.91037,2.46633,1.715197052884389,Uncertain,Neutral,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,422919,Uncertain significance,2,96.76,E,-0.1578,0.9215,-4.3093,loss_of_function,-1.63188566787287,0.771850933563117,0.0005858416421086,Benign,0.0888,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128H,NP_000240:p.Ala128His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",18.91579,11.88265,3.882925487744877,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3094,0.9215,-22.1206,loss_of_function,-4.56618533266227,0.40960879391745625,0.912448803099426,Pathogenic,0.9746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128I,NP_000240:p.Ala128Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.62706,2.16293,2.34575843755068,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.2948,0.9215,-22.1206,loss_of_function,-3.34644571317479,0.5601868329894952,0.4933561148056526,Uncertain,0.6069,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128K,NP_000240:p.Ala128Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.00542,12.45612,6.222341411836472,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3272,0.9215,-22.1206,loss_of_function,-5.65884973372594,0.2747183138122636,0.9084935468845844,Pathogenic,0.9893,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128L,NP_000240:p.Ala128Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",2.60776,1.97925,2.503109418830498,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.2996,0.9215,-22.1206,loss_of_function,-3.57706682781495,0.5317164327038058,0.341727600023602,Uncertain,0.5981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128M,NP_000240:p.Ala128Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.64921,3.31327,2.7615871622782326,Destabilizing,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.1854,0.9215,-7.8328,loss_of_function,-2.78913068653091,0.6289879135780542,0.3090276793762784,Benign,0.6525,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128N,NP_000240:p.Ala128Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.3953,2.25238,1.88303834723908,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3073,0.9215,-22.1206,loss_of_function,-5.10029568454111,0.34367235293525206,0.905503094658166,Pathogenic,0.8874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128P,NP_000240:p.Ala128Pro,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.59276,4.29592,5.357463546351864,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90199,Pathogenic,3,96.76,E,-0.3767,0.9215,-22.1206,loss_of_function,-5.65884973372594,0.2747183138122636,0.9104234391047203,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128Q,NP_000240:p.Ala128Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.91615,4.66361,3.048285435557141,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.237,0.9215,-8.8328,loss_of_function,-4.01025059989026,0.47823947588876237,0.5505454568164785,Uncertain,0.9416,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128R,NP_000240:p.Ala128Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.11541,11.91224,5.118961225022689,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3379,0.9215,-22.1206,loss_of_function,-5.65884973372594,0.2747183138122636,0.9040571089553238,Pathogenic,0.9751,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128S,NP_000240:p.Ala128Ser,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.29951,1.17313,1.2937118531139082,Neutral,Neutral,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,861135,Uncertain significance,1,96.76,E,-0.1419,0.9215,-6.8329,loss_of_function,-0.798293886238408,0.8747586475208113,0.3390155309998904,Uncertain,0.1399,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128T,NP_000240:p.Ala128Thr,"hg19,3:g.37048483G>A",,3.9795609748e-06,0.855,"cBioPortal,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00491,0.33299,1.2626548869350909,Neutral,Neutral,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,639289,Uncertain significance,2,96.76,E,-0.1479,0.9215,-6.8329,loss_of_function,-0.534719598443414,0.9072971489943111,0.1370019108303453,Benign,0.2245,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128V,NP_000240:p.Ala128Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.68838,-0.11327,1.0048935406184107,Neutral,Neutral,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.1338,0.9215,-4.663,loss_of_function,-2.18279814229093,0.7038402542567802,0.0105932214116213,Benign,0.2644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128W,NP_000240:p.Ala128Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",30.88402,14.00986,5.544679787119929,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.3162,0.9215,-22.1206,loss_of_function,-4.56618533266227,0.40960879391745625,0.8926281457647012,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A128Y,NP_000240:p.Ala128Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",24.21272,6.74286,4.626440041701186,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.4,,True,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.76,E,-0.2465,0.9215,-6.8329,loss_of_function,-1.28353823150448,0.8148547624509287,0.4366780829241836,Uncertain,0.9442,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129A,NP_000240:p.Ser129Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.51722,0.25986,0.1368021572090627,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,96.86,E,0.0738,2.9151,-5.3735,gain_of_function,-0.252439822589711,0.9421448611114313,0.0840077325415172,Benign,0.0793,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129C,NP_000240:p.Ser129Cys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.16636,0.55986,0.3243733399304382,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.0302,2.9151,-4.0255,gain_of_function,-0.332066227762214,0.9323149041618741,0.0028346268216021,Benign,0.0637,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129D,NP_000240:p.Ser129Asp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.21088,0.24694,0.4330682318168266,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.1103,2.9151,-22.1206,loss_of_function,-1.22924961370172,0.8215567449741379,0.4365129121718825,Uncertain,0.2997,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129E,NP_000240:p.Ser129Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.00901,0.26837,0.1504879222840316,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.0005,2.9151,-5.663,gain_of_function,-0.85109577476944,0.8682402031682012,0.0369464006700762,Benign,0.4836,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129F,NP_000240:p.Ser129Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.22397,-0.55306,-0.924434919216922,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.0117,2.9151,-6.8329,loss_of_function,-0.896287224391195,0.8626612748804359,0.073847228654487,Benign,0.132,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129G,NP_000240:p.Ser129Gly,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.32677,1.56429,1.2488967331335323,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,DOWN,neutral,neutral,neutral,571099,Uncertain significance,2,96.86,E,-0.0208,2.9151,-22.1206,loss_of_function,-1.72107277817398,0.760840698292342,0.2105643250326446,Benign,0.0718,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129H,NP_000240:p.Ser129His,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.00929,-0.23197,-0.6681595488749059,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.0083,2.9151,-2.6831,gain_of_function,-0.148890809559617,0.9549280872039543,0.0060804241130672,Benign,0.1747,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129I,NP_000240:p.Ser129Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.50244,0.21463,-0.9441654584822506,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.025,2.9151,-8.8328,loss_of_function,-0.427843199234329,0.9204911441379194,0.0846710784211859,Benign,0.0947,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129K,NP_000240:p.Ser129Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.95091,0.36973,-0.2353278328554214,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.0163,2.9151,-5.663,loss_of_function,-1.221189058287,0.8225518283581555,0.044618448080334,Benign,0.5257,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129L,NP_000240:p.Ser129Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.68917,0.17789,-1.014429254307318,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.0043,2.9151,-5.511,loss_of_function,-1.08182210568881,0.839756813830792,0.0261567730874382,Benign,0.0949,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129M,NP_000240:p.Ser129Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.59786,0.71973,-0.5133475831960399,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.0208,2.9151,-6.2479,gain_of_function,-0.678083921308504,0.8895986842851081,0.0179058069165162,Benign,0.1312,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129N,NP_000240:p.Ser129Asn,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.15571,0.19524,-0.0432798991578359,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,656950,Uncertain significance,2,96.86,E,0.0612,2.9151,-3.4753,gain_of_function,-0.209472194021257,0.9474492565332444,0.0249096564595219,Benign,0.0737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129P,NP_000240:p.Ser129Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.09584,0.82891,0.8850552272647957,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.1651,2.9151,-22.1206,loss_of_function,-2.30813610490765,0.6883671612043135,0.7879701217566997,Pathogenic,0.6502,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129Q,NP_000240:p.Ser129Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.68592,-0.17007,-0.0848885498865525,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.0337,2.9151,-5.0255,gain_of_function,-0.24573016190835,0.9429731752303598,0.009210703012362,Benign,0.3224,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129R,NP_000240:p.Ser129Arg,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.82593,0.74286,-0.7188356857684747,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,1441096,Uncertain significance,1,96.86,E,-0.0296,2.9151,-7.2479,loss_of_function,-1.20550551335065,0.8244879771922864,0.0386029955618475,Benign,0.4884,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129T,NP_000240:p.Ser129Thr,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-0.96503,-0.06667,-0.242617555396889,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,neutral,,,UP,neutral,neutral,neutral,2773559,Uncertain significance,1,96.86,E,0.0919,2.9151,-3.663,gain_of_function,-0.0378430962839966,0.9686370351149053,0.0039032480824296,Benign,0.0686,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129V,NP_000240:p.Ser129Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",-1.07709,0.72245,-0.8996633523963932,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,0.015,2.9151,-6.0255,gain_of_function,-0.56415792942635,0.9036629584817272,0.0689176826264733,Benign,0.1005,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129W,NP_000240:p.Ser129Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.28121,-1.04864,-1.1633000712809398,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.0994,2.9151,-22.1206,loss_of_function,-1.52992615492192,0.7844379343291865,0.6690316451298782,Uncertain,0.3282,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S129Y,NP_000240:p.Ser129Tyr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.33879,-0.63027,-0.800636225819446,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,48.1,,True,48.1,,uncertain,,,UP,neutral,neutral,neutral,,,,96.86,E,-0.005,2.9151,-4.585,loss_of_function,-0.985221119719464,0.8516822992436556,0.0625055994969316,Benign,0.1339,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130A,NP_000240:p.Tyr130Ala,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.76733,5.45408,3.4141219605797506,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.3496,0.3704,-8.8391,loss_of_function,-3.93215692844761,0.48788021537274456,0.8912314558033874,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130C,NP_000240:p.Tyr130Cys,"hg38,3:g.37006999A>G",,3.9783577339e-06,0.875,"COSMIC,saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.02909,5.39728,3.7850170504802185,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,1735971,Conflicting classifications of pathogenicity,1,95.8,E,-0.3202,0.3704,-8.8391,loss_of_function,-6.12720631657731,0.21689923939220515,0.9470448225597558,Pathogenic,0.7403,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130D,NP_000240:p.Tyr130Asp,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.49709,7.20306,4.457036102372162,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,1735892,Uncertain significance,1,95.8,E,-0.4316,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9913816052409424,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130E,NP_000240:p.Tyr130Glu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",8.21171,7.18537,4.054091449003494,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4603,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9774212290102836,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130F,NP_000240:p.Tyr130Phe,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",0.39638,0.41361,0.0624814982742755,Neutral,Neutral,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,-,uncertain,uncertain,damaging,,,,95.8,E,-0.1651,0.3704,-4.5173,loss_of_function,-1.29461877840582,0.8134868581887463,0.0152520634978438,Benign,0.0726,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130G,NP_000240:p.Tyr130Gly,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.79856,7.48707,5.353951537936228,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.488,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9573395854401444,Pathogenic,0.9787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130H,NP_000240:p.Tyr130His,,,,,"saturation,clinvar","Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.09692,2.99966,2.138933465368132,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,1523598,Likely pathogenic,2,95.8,E,-0.3251,0.3704,-22.1269,loss_of_function,-3.96324427293602,0.4840424525435035,0.98557131919292,Pathogenic,0.961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130I,NP_000240:p.Tyr130Ile,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",3.92986,4.34796,2.416530546509021,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.3616,0.3704,-8.8391,loss_of_function,-4.74634415641283,0.3873680123863265,0.7768577598471709,Pathogenic,0.9247,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130K,NP_000240:p.Tyr130Lys,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",4.44056,6.99966,4.02945398985028,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4856,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9889111244381256,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130L,NP_000240:p.Tyr130Leu,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.74061,3.88503,2.02521487978703,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4065,0.3704,-22.1269,loss_of_function,-5.29907988388314,0.3191322507222851,0.8943022281492274,Pathogenic,0.8988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130M,NP_000240:p.Tyr130Met,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",1.49945,3.15782,2.335081066599864,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.3586,0.3704,-22.1269,loss_of_function,-5.29907988388314,0.3191322507222851,0.9164118852974538,Pathogenic,0.9621,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130N,NP_000240:p.Tyr130Asn,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.04307,5.63401,3.4410771166559884,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4106,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9241383940364932,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130P,NP_000240:p.Tyr130Pro,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",9.70598,9.78912,6.827304944135384,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.5416,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.976776790139182,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130Q,NP_000240:p.Tyr130Gln,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.72385,5.18435,3.4487730921733406,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4351,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9766433161649652,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130R,NP_000240:p.Tyr130Arg,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.83193,7.82925,3.297060353484447,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4809,0.3704,-22.1269,loss_of_function,-6.58540432881466,0.1603342503674189,0.9921957453858568,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130S,NP_000240:p.Tyr130Ser,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",7.2105,6.37993,4.195327820154294,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.4221,0.3704,-22.1269,loss_of_function,-6.12720631657731,0.21689923939220515,0.91549736969356,Pathogenic,0.9739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130T,NP_000240:p.Tyr130Thr,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",6.26134,5.15442,3.5921843947115075,Destabilizing,Destabilizing,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.3729,0.3704,-8.8391,loss_of_function,-6.12720631657731,0.21689923939220515,0.9453774578736238,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130V,NP_000240:p.Tyr130Val,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.73442,4.13639,2.628029618089439,Destabilizing,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,DOWN,neutral,neutral,damaging,,,,95.8,E,-0.419,0.3704,-22.1269,loss_of_function,-5.07954266077486,0.3462343338479082,0.8577165389003686,Pathogenic,0.8714,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y130W,NP_000240:p.Tyr130Trp,,,,,saturation,"Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (PF13589)",5.15832,1.45374,0.6939908172517331,Uncertain,Uncertain,False,0.02,,,,,,,,,,0.3,,True,0.3,,uncertain,,,UP,neutral,neutral,damaging,,,,95.8,E,-0.2672,0.3704,-8.8391,loss_of_function,-3.96324427293602,0.4840424525435035,0.990733746372248,Pathogenic,0.7395,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131A,NP_000240:p.Ser131Ala,,,,,"saturation,clinvar",,1.17622,-0.13844,-0.0544777148819158,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,-,uncertain,uncertain,neutral,2566506,Uncertain significance,1,91.52,E,0.0881,2.9516,-3.2276,gain_of_function,-0.0794813132509574,0.9634967568447155,0.0011247188136249,Benign,0.0631,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131C,NP_000240:p.Ser131Cys,,,,,saturation,,0.67486,0.06088,0.5943536550943304,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.0335,2.9516,-4.035,gain_of_function,-0.212069088878325,0.9471286673443666,0.0015810089515811,Benign,0.0638,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131D,NP_000240:p.Ser131Asp,,,,,saturation,,1.22187,1.91463,0.6474232118781877,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0223,2.9516,-5.5204,loss_of_function,-1.83353785078256,0.7469567759970163,0.0443558753078124,Benign,0.3211,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131E,NP_000240:p.Ser131Glu,,,,,saturation,,0.97181,0.1085,0.1853139275141541,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.0129,2.9516,-3.8882,gain_of_function,-1.3209120617512,0.8102409268574542,0.0015214946678951,Benign,0.3561,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131F,NP_000240:p.Ser131Phe,,,,,saturation,,1.12935,-1.67789,-0.3473552330766294,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0135,2.9516,-7.8423,loss_of_function,-2.08232326125106,0.716243975773457,0.1007873010072391,Benign,0.1161,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131G,NP_000240:p.Ser131Gly,,,,,saturation,,1.6165,1.00748,1.140245436686943,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,91.52,E,0.0656,2.9516,-5.8423,gain_of_function,-1.89572750362665,0.7392794030346057,0.0203686739937968,Benign,0.0761,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131H,NP_000240:p.Ser131His,,,,,saturation,,1.88535,-0.8602,-0.1765793528515735,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0117,2.9516,-7.2573,loss_of_function,-1.79569257736284,0.7516288117074583,0.0186474578411545,Benign,0.2347,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131I,NP_000240:p.Ser131Ile,,,,,saturation,,0.50461,-0.51905,-0.60728864275791,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.002,2.9516,-4.1985,gain_of_function,-1.2651529253241,0.8171244463311192,0.0005878160397393,Benign,0.0945,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131K,NP_000240:p.Ser131Lys,,,,,saturation,,0.38418,-0.17687,0.0528937591083461,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.021,2.9516,-7.2573,loss_of_function,-1.60211128593698,0.7755266098917848,0.0175601391851099,Benign,0.4611,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131L,NP_000240:p.Ser131Leu,,,,,"saturation,clinvar",,0.34641,-1.17075,-1.033912586996795,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,578307,Uncertain significance,1,91.52,E,0.0071,2.9516,-3.9355,gain_of_function,-1.17718042203089,0.827984737188701,0.0010722842021762,Benign,0.0689,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131M,NP_000240:p.Ser131Met,,,,,saturation,,0.31044,-1.08946,-0.5433768420755591,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.0212,2.9516,-6.8423,gain_of_function,-1.6811002750119,0.765775342577715,0.038420334772353,Benign,0.1217,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131N,NP_000240:p.Ser131Asn,,,,,saturation,,1.18117,0.52755,0.2441043643522095,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.049,2.9516,-6.5204,gain_of_function,-1.70113908644656,0.7633015318701204,0.0229855798162582,Benign,0.1163,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131P,NP_000240:p.Ser131Pro,,,,,saturation,,3.49737,3.95578,5.04073834739958,Destabilizing,Destabilizing,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.1618,2.9516,-22.1301,loss_of_function,-3.50628589080725,0.540454408029047,0.5807882467007822,Uncertain,0.8189,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131Q,NP_000240:p.Ser131Gln,,,,,saturation,,0.12007,-0.66224,-0.0812916875398045,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.0328,2.9516,-5.8423,gain_of_function,-1.6028712941943,0.7754327861352737,0.0292966368073763,Benign,0.3094,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131R,NP_000240:p.Ser131Arg,,,,,saturation,,0.41711,0.06429,-0.2781857294113871,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0117,2.9516,-4.3829,loss_of_function,-0.422569034467447,0.9211422448938936,0.0084676745343437,Benign,0.3509,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131T,NP_000240:p.Ser131Thr,,,,,saturation,,0.01915,0.01667,0.2457136645939461,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,neutral,,,UP,neutral,neutral,neutral,,,,91.52,E,0.085,2.9516,-5.6724,gain_of_function,-0.466412022610969,0.915729785483512,0.010175297657946,Benign,0.071,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131V,NP_000240:p.Ser131Val,,,,,saturation,,0.74436,-0.28435,-0.4343430824193978,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,0.0244,2.9516,-4.8423,gain_of_function,-1.20898435461001,0.8240585108646308,0.001306442931418,Benign,0.103,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131W,NP_000240:p.Ser131Trp,,,,,saturation,,1.79739,-0.97211,-0.8041745922097737,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0283,2.9516,-8.8422,loss_of_function,-2.88849239840214,0.6167216138749279,0.1770982796176591,Benign,0.2562,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S131Y,NP_000240:p.Ser131Tyr,,,,,saturation,,1.29041,-1.51905,-0.1013296829479332,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,33.4,,True,33.4,,uncertain,,,UP,neutral,neutral,neutral,,,,91.52,E,-0.0912,2.9516,-22.1301,loss_of_function,-2.35810483935107,0.6821984724717435,0.2347999986610279,Benign,0.1431,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132A,NP_000240:p.Asp132Ala,,,,,saturation,,0.21142,2.03844,1.2163407082590498,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.79,T,-0.1559,1.1961,-6.035,loss_of_function,-3.04095720669863,0.597899685412502,0.533099359244577,Uncertain,0.3672,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132C,NP_000240:p.Asp132Cys,,,,,saturation,,-0.03929,2.23571,1.623566845852048,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.79,T,-0.2796,1.1961,-22.1301,loss_of_function,-4.17631263713229,0.45773895632482486,0.9285678724670272,Pathogenic,0.7884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132E,NP_000240:p.Asp132Glu,,,,,saturation,,-0.01276,1.12551,0.9512683823902762,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.0958,1.1961,-5.035,loss_of_function,-2.09138847555847,0.715124866274701,0.5050411777330792,Uncertain,0.4615,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132F,NP_000240:p.Asp132Phe,,,,,saturation,,1.26556,1.69524,-0.0550430804661888,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.3382,1.1961,-22.1301,loss_of_function,-5.15083301250083,0.33743347078160624,0.9438149114745578,Pathogenic,0.8617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132G,NP_000240:p.Asp132Gly,"hg19,3:g.37048496A>G, hg38,3:g.37007005A>G",,,0.591,"cBioPortal,COSMIC,saturation,clinvar",,0.2942,1.26599,2.0144443120404265,Neutral,Uncertain,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,489900,Uncertain significance,2,89.79,T,-0.1671,1.1961,-6.035,loss_of_function,-3.23047865077829,0.5745030793207795,0.4488592714483918,Uncertain,0.2969,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132H,NP_000240:p.Asp132His,"hg19,3:g.37048495G>C",,0.0002148108073704,0.690,"cBioPortal,saturation,clinvar",,-0.6683,1.22449,0.3020144468971497,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,17096,Benign,3,89.79,T,-0.1796,1.1961,-8.8422,loss_of_function,-4.86944513386488,0.37217107732212834,0.9299984961103456,Pathogenic,0.6933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132I,NP_000240:p.Asp132Ile,,,,,saturation,,0.98872,5.00374,0.6112910006398192,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.3304,1.1961,-22.1301,loss_of_function,-4.84396862803006,0.3753161766775354,0.9806674998663916,Pathogenic,0.8806,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132K,NP_000240:p.Asp132Lys,,,,,saturation,,-0.6226,2.07143,1.1144862951518733,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.3088,1.1961,-22.1301,loss_of_function,-4.88784622036667,0.3698994453459539,0.9264594298983112,Pathogenic,0.8613,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132L,NP_000240:p.Asp132Leu,,,,,saturation,,-0.68228,1.00034,0.1280220136125498,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.2482,1.1961,-7.2573,loss_of_function,-2.98894867434377,0.6043201891756743,0.813608956773018,Pathogenic,0.7454,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132M,NP_000240:p.Asp132Met,,,,,saturation,,-0.87238,1.84388,0.4619877735085748,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.2628,1.1961,-22.1301,loss_of_function,-4.36362603210177,0.4346149360373785,0.967094034538302,Pathogenic,0.8801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132N,NP_000240:p.Asp132Asn,,,,,saturation,,-0.33464,0.23571,0.4898681720650727,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.79,T,-0.111,1.1961,-3.7549,loss_of_function,-1.59643319171087,0.7762275761312786,0.0744266632136815,Benign,0.1352,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132P,NP_000240:p.Asp132Pro,,,,,saturation,,3.33185,6.04898,3.7684352066586544,Destabilizing,Destabilizing,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.79,T,-0.375,1.1961,-22.1301,loss_of_function,-5.53805275344884,0.28963081819052783,0.9460334540370066,Pathogenic,0.9834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132Q,NP_000240:p.Asp132Gln,,,,,saturation,,-0.32332,1.58673,1.0492089127447264,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.1921,1.1961,-7.8423,loss_of_function,-2.14129760878369,0.708963535370326,0.9091566356418868,Pathogenic,0.7083,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132R,NP_000240:p.Asp132Arg,,,,,saturation,,-0.33705,2.41837,0.8190437672700945,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.272,1.1961,-8.8422,loss_of_function,-4.06388561851315,0.47161818081824514,0.9257176502130612,Pathogenic,0.8261,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132S,NP_000240:p.Asp132Ser,,,,,saturation,,0.3293,1.69966,1.165991424238892,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.79,T,-0.155,1.1961,-4.5944,loss_of_function,-2.96448911626092,0.6073397453447457,0.4991578738885965,Uncertain,0.1913,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132T,NP_000240:p.Asp132Thr,,,,,saturation,,0.70217,2.91259,1.1352667221007395,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.79,T,-0.2745,1.1961,-22.1301,loss_of_function,-4.17631263713229,0.45773895632482486,0.9307594617595716,Pathogenic,0.6616,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132V,NP_000240:p.Asp132Val,,,,,saturation,,1.46961,5.48333,0.8992282602214136,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.2851,1.1961,-22.1301,loss_of_function,-4.84396862803006,0.3753161766775354,0.9758019182463896,Pathogenic,0.7024,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132W,NP_000240:p.Asp132Trp,,,,,saturation,,-1.59787,1.65986,-0.3516230157468814,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.79,T,-0.3187,1.1961,-22.1301,loss_of_function,-5.15083301250083,0.33743347078160624,0.986506090674062,Pathogenic,0.9786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D132Y,NP_000240:p.Asp132Tyr,,,,,"saturation,clinvar",,-0.00626,1.78367,0.0482837860725038,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,34.2,,True,34.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1736428,Uncertain significance,1,89.79,T,-0.2153,1.1961,-8.8422,loss_of_function,-4.40974410237416,0.42892161553154723,0.8842314862963512,Pathogenic,0.5968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133A,NP_000240:p.Gly133Ala,,,,,saturation,,4.28433,1.03776,-0.7098580471610533,Uncertain,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3378,0.4927,-22.1332,loss_of_function,-4.62439387314807,0.40242289313702573,0.8059290533932253,Pathogenic,0.4686,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133C,NP_000240:p.Gly133Cys,,,,,saturation,,5.26189,6.27551,0.1160225475569093,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3297,0.4927,-8.8454,loss_of_function,-2.5480891390779,0.658744726401446,0.8472903041044069,Pathogenic,0.5598,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133D,NP_000240:p.Gly133Asp,,,,,saturation,,9.3722,1.26088,0.4028336051597303,Uncertain,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3981,0.4927,-22.1332,loss_of_function,-4.89928242438306,0.3684876348679609,0.9142203827259292,Pathogenic,0.9611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133E,NP_000240:p.Gly133Glu,,,,,saturation,,8.18826,5.45714,0.2979355997083555,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3245,0.4927,-7.8454,loss_of_function,-3.01391604475402,0.6012379430822494,0.4977908582128076,Uncertain,0.9325,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133F,NP_000240:p.Gly133Phe,,,,,saturation,,8.57376,6.06803,0.2566749806750418,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4356,0.4927,-22.1332,loss_of_function,-6.2091360829302,0.20678493027085992,0.9464042111838156,Pathogenic,0.9815,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133H,NP_000240:p.Gly133His,,,,,saturation,,9.3585,5.53061,0.3102900205286507,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4104,0.4927,-22.1332,loss_of_function,-6.2091360829302,0.20678493027085992,0.961539132255768,Pathogenic,0.9628,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133I,NP_000240:p.Gly133Ile,,,,,saturation,,8.38696,7.46156,0.1941007861580002,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4813,0.4927,-22.1332,loss_of_function,-5.99243054839994,0.23353743869502316,0.903454019525358,Pathogenic,0.9706,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133K,NP_000240:p.Gly133Lys,,,,,saturation,,6.83877,8.23299,0.7344969206938675,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4303,0.4927,-22.1332,loss_of_function,-5.99243054839994,0.23353743869502316,0.9191771547476282,Pathogenic,0.985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133L,NP_000240:p.Gly133Leu,,,,,saturation,,7.19601,4.91973,-0.596642798587324,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4495,0.4927,-22.1332,loss_of_function,-5.99243054839994,0.23353743869502316,0.8971045192653804,Pathogenic,0.934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133M,NP_000240:p.Gly133Met,,,,,saturation,,5.92405,4.17075,-0.5077488325284191,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3878,0.4927,-22.1332,loss_of_function,-5.99243054839994,0.23353743869502316,0.9534980980511292,Pathogenic,0.9217,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133N,NP_000240:p.Gly133Asn,,,,,saturation,,8.71281,1.15578,-0.267651126968656,Uncertain,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3984,0.4927,-22.1332,loss_of_function,-4.29831153834993,0.4426780736406873,0.8908234423460912,Pathogenic,0.8475,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133P,NP_000240:p.Gly133Pro,,,,,saturation,,11.64862,10.91395,5.269605273507687,Destabilizing,Destabilizing,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4955,0.4927,-22.1332,loss_of_function,-6.2091360829302,0.20678493027085992,0.9312495549264812,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133Q,NP_000240:p.Gly133Gln,,,,,saturation,,7.2868,4.51633,0.0619772667897888,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4013,0.4927,-22.1332,loss_of_function,-4.89928242438306,0.3684876348679609,0.9193173620121168,Pathogenic,0.9063,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133R,NP_000240:p.Gly133Arg,"hg19,3:g.37048498G>A",,,0.715,"cBioPortal,saturation",,6.78195,3.53946,-0.0629315607358077,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3465,0.4927,-8.8454,loss_of_function,-5.68094660221045,0.27199043396572026,0.7538231333354608,Pathogenic,0.9566,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133S,NP_000240:p.Gly133Ser,,,,,saturation,,5.01965,2.0568,-0.0386570709029837,Uncertain,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.2504,0.4927,-3.8455,loss_of_function,-1.56784758015696,0.7797564976032821,0.0067260451275025,Benign,0.176,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133T,NP_000240:p.Gly133Thr,,,,,saturation,,8.52602,8.02279,0.0296648416848099,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4206,0.4927,-22.1332,loss_of_function,-4.62439387314807,0.40242289313702573,0.827458640874385,Pathogenic,0.6834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133V,NP_000240:p.Gly133Val,,,,,saturation,,8.27409,9.86224,-0.2943502129909686,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.4246,0.4927,-22.1332,loss_of_function,-5.99243054839994,0.23353743869502316,0.9388872662814616,Pathogenic,0.9317,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133W,NP_000240:p.Gly133Trp,,,,,saturation,,11.09184,9.54184,0.1453346505893027,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3676,0.4927,-8.8454,loss_of_function,-6.2091360829302,0.20678493027085992,0.9867543894827998,Pathogenic,0.9707,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G133Y,NP_000240:p.Gly133Tyr,,,,,saturation,,8.00561,10.31463,0.8901484378194038,Destabilizing,Uncertain,False,0.007,,,,,,,,,,8.2,,True,8.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.11,T,-0.3682,0.4927,-8.8454,loss_of_function,-6.2091360829302,0.20678493027085992,0.9600450092289868,Pathogenic,0.972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134A,NP_000240:p.Lys134Ala,,,,,saturation,,0.63215,0.74252,0.3980489723585911,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.0846,1.6068,-4.5976,loss_of_function,-2.63260883590363,0.6483106878512107,0.1800294278921605,Benign,0.2149,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134C,NP_000240:p.Lys134Cys,,,,,saturation,,0.25853,0.93946,0.9862040687020036,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1765,1.6068,-8.8454,loss_of_function,-3.16956354453208,0.582023108269477,0.8292342028450161,Pathogenic,0.2461,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134D,NP_000240:p.Lys134Asp,,,,,saturation,,1.2794,1.31054,0.5445501154223639,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.2153,1.6068,-8.8454,loss_of_function,-3.8841600004584,0.4938054826860535,0.6943987786149268,Pathogenic,0.5654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134E,NP_000240:p.Lys134Glu,,,,,"saturation,clinvar",,0.93049,0.5432,0.3942794214990575,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,405430,Uncertain significance,2,91.0,E,-0.1135,1.6068,-5.3861,loss_of_function,-2.6035326480969,0.6519001714374433,0.2771302682640297,Benign,0.1489,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134F,NP_000240:p.Lys134Phe,,,,,saturation,,0.37384,-0.08367,-0.0514602897890309,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.0,E,-0.2452,1.6068,-22.1332,loss_of_function,-4.55048447084361,0.4115470805375041,0.920919586709765,Pathogenic,0.433,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134G,NP_000240:p.Lys134Gly,,,,,saturation,,0.82043,1.32177,1.0310327021961692,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1655,1.6068,-8.8454,loss_of_function,-4.08419823955105,0.469110568049558,0.8034036060863792,Pathogenic,0.3623,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134H,NP_000240:p.Lys134His,,,,,saturation,,0.05746,-0.0585,0.1005138753194229,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1083,1.6068,-7.2605,loss_of_function,-3.68228315025588,0.5187273756473628,0.2938196076930988,Benign,0.1661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134I,NP_000240:p.Lys134Ile,"hg19,3:g.37048502A>T, hg38,3:g.37007011A>T",,,0.643,"cBioPortal,COSMIC,saturation,clinvar",,0.46995,0.32143,-0.1700162756562051,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2067568,Uncertain significance,1,91.0,E,-0.1366,1.6068,-7.2605,loss_of_function,-2.34504779687053,0.6838103770302149,0.5400671772843723,Uncertain,0.1408,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134L,NP_000240:p.Lys134Leu,,,,,saturation,,0.28967,-0.20034,-0.215131549437596,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.0,E,-0.1433,1.6068,-8.8454,loss_of_function,-2.71402055580242,0.6382603320670861,0.7075433379471685,Pathogenic,0.1617,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134M,NP_000240:p.Lys134Met,,,,,saturation,,0.35648,0.38776,0.1887870802260449,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1113,1.6068,-7.8454,loss_of_function,-2.76041031403559,0.6325334714189819,0.7612986302646736,Pathogenic,0.1291,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134N,NP_000240:p.Lys134Asn,,,,,saturation,,0.58599,0.47041,0.5098370402782345,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1143,1.6068,-6.8455,loss_of_function,-2.65300856719128,0.6457923212377022,0.2745595134503277,Benign,0.2943,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134P,NP_000240:p.Lys134Pro,,,,,saturation,,2.12127,4.94218,2.4892459235470064,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.2806,1.6068,-8.8454,loss_of_function,-5.30030336488613,0.3189812108057909,0.9611794543886644,Pathogenic,0.9176,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134Q,NP_000240:p.Lys134Gln,,,,,saturation,,0.17393,0.37381,0.4230843908836978,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.0894,1.6068,-5.6756,loss_of_function,-1.19987958585921,0.8251825033977879,0.0376741867667137,Benign,0.0821,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134R,NP_000240:p.Lys134Arg,,,,,"saturation,clinvar",,-0.07881,0.63095,-0.0499966685128372,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1021363,Uncertain significance,1,91.0,E,-0.0175,1.6068,-4.4532,loss_of_function,-0.469752559090411,0.9153173930150815,0.0139805984629947,Benign,0.0714,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134S,NP_000240:p.Lys134Ser,,,,,saturation,,0.1367,0.60102,0.6625619288984191,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1011,1.6068,-5.8455,loss_of_function,-2.69659397394291,0.6404116604999823,0.645486817677246,Uncertain,0.269,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134T,NP_000240:p.Lys134Thr,,,,,saturation,,0.19879,0.32007,0.4161459568276943,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1283,1.6068,-8.8454,loss_of_function,-3.17118661491098,0.5818227386569581,0.4957018133822878,Uncertain,0.1303,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134V,NP_000240:p.Lys134Val,,,,,saturation,,0.79214,0.02687,-0.0363802149608272,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.0,E,-0.1043,1.6068,-4.0906,loss_of_function,-2.30820152793569,0.688359084668047,0.0853174794908005,Benign,0.1279,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134W,NP_000240:p.Lys134Trp,,,,,saturation,,0.51325,0.62891,-0.2775777879612512,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.0,E,-0.2542,1.6068,-22.1332,loss_of_function,-4.55048447084361,0.4115470805375041,0.962256085348404,Pathogenic,0.5729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K134Y,NP_000240:p.Lys134Tyr,,,,,saturation,,0.38424,-0.11156,0.1090408894319033,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,87.7,,True,87.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.0,E,-0.1623,1.6068,-8.8454,loss_of_function,-2.7544383721936,0.633270713431664,0.924276750582032,Pathogenic,0.3973,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135A,NP_000240:p.Leu135Ala,,,,,saturation,,2.26716,1.99252,2.568072436768876,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3167,1.1114,-22.1301,loss_of_function,-4.15641351937003,0.4601955217130704,0.7471684711185536,Pathogenic,0.2722,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135C,NP_000240:p.Leu135Cys,,,,,saturation,,1.96272,1.96088,3.005991461758037,Neutral,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3059,1.1114,-22.1301,loss_of_function,-4.66585846207089,0.39730404941728986,0.8362326465242075,Pathogenic,0.5024,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135D,NP_000240:p.Leu135Asp,,,,,saturation,,3.3155,4.53299,3.84725904734248,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.4382,1.1114,-22.1301,loss_of_function,-4.35428434234903,0.43576817669801887,0.891647868727947,Pathogenic,0.9336,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135E,NP_000240:p.Leu135Glu,,,,,saturation,,3.59991,4.06871,3.267100203374509,Destabilizing,Destabilizing,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.4063,1.1114,-22.1301,loss_of_function,-4.4780329485942,0.4204912912311638,0.8403922517636435,Pathogenic,0.6371,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135F,NP_000240:p.Leu135Phe,,,,,saturation,,2.34496,4.20714,1.1263670832386836,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.33,E,-0.2501,1.1114,-22.1301,loss_of_function,-5.19218823918737,0.3323281279360115,0.6640256513795615,Uncertain,0.4081,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135G,NP_000240:p.Leu135Gly,,,,,saturation,,2.91258,3.47551,4.185786702544235,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3915,1.1114,-22.1301,loss_of_function,-4.45834953977858,0.42292122714072683,0.9339897697528852,Pathogenic,0.5846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135H,NP_000240:p.Leu135His,,,,,saturation,,2.55786,4.13878,2.2325859916291293,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3591,1.1114,-22.1301,loss_of_function,-5.19218823918737,0.3323281279360115,0.945470963180774,Pathogenic,0.6116,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135I,NP_000240:p.Leu135Ile,,,,,saturation,,1.03346,0.62381,0.7124869574265341,Neutral,Neutral,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.33,E,-0.0985,1.1114,-4.035,loss_of_function,-0.308429661335824,0.9352328612127218,0.0677058813768548,Benign,0.1168,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135K,NP_000240:p.Leu135Lys,,,,,saturation,,1.91789,1.67857,3.076416719678955,Neutral,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.33,E,-0.4053,1.1114,-22.1301,loss_of_function,-5.19218823918737,0.3323281279360115,0.8470157934598701,Pathogenic,0.5523,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135M,NP_000240:p.Leu135Met,,,,,saturation,,0.10025,1.45238,1.0784056216273867,Neutral,Neutral,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.33,E,-0.1203,1.1114,-3.7549,loss_of_function,-0.139806484868819,0.9560495558980752,0.0333827659023359,Benign,0.1132,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135N,NP_000240:p.Leu135Asn,,,,,saturation,,2.8825,2.35918,2.5645145232191324,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3845,1.1114,-22.1301,loss_of_function,-4.32764233063892,0.43905715888417457,0.8970104684876645,Pathogenic,0.6804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135P,NP_000240:p.Leu135Pro,,,,,"saturation,clinvar",,1.23329,1.32993,3.639847359117909,Neutral,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,234592,Uncertain significance,2,93.33,E,-0.3106,1.1114,-4.5944,loss_of_function,-1.4989884824502,0.7882572200027979,0.0042555328298803,Benign,0.1434,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135Q,NP_000240:p.Leu135Gln,,,,,saturation,,2.14017,1.83605,2.380933390806492,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.2645,1.1114,-7.8423,loss_of_function,-3.89979991804403,0.4918747196906841,0.6705131873920361,Uncertain,0.272,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135R,NP_000240:p.Leu135Arg,,,,,saturation,,2.13295,2.73946,2.2197509226277847,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.33,E,-0.3969,1.1114,-22.1301,loss_of_function,-4.85663690040326,0.3737522661658899,0.8662331031566328,Pathogenic,0.4354,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135S,NP_000240:p.Leu135Ser,,,,,saturation,,3.00222,2.52313,3.41355903016776,Uncertain,Destabilizing,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.3471,1.1114,-22.1301,loss_of_function,-4.18684521055753,0.45643869991975605,0.8076532490870252,Pathogenic,0.4862,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135T,NP_000240:p.Leu135Thr,,,,,saturation,,2.22295,1.35918,2.3220800113021105,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.252,1.1114,-8.8422,loss_of_function,-3.87304224304854,0.4951779806216038,0.8129277871401084,Pathogenic,0.3717,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135V,NP_000240:p.Leu135Val,,,,,saturation,,1.20545,1.37789,1.1616121856190738,Neutral,Neutral,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.33,E,-0.1474,1.1114,-6.5204,loss_of_function,-0.683148270271567,0.8889734854936193,0.3577274887730849,Uncertain,0.1254,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135W,NP_000240:p.Leu135Trp,,,,,saturation,,2.26881,7.64898,1.3183732517504578,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.33,E,-0.3493,1.1114,-22.1301,loss_of_function,-5.19218823918737,0.3323281279360115,0.9145726829694494,Pathogenic,0.648,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L135Y,NP_000240:p.Leu135Tyr,,,,,saturation,,2.44627,5.36395,1.7576620074806015,Uncertain,Uncertain,False,0.017,,,,,,,,,,15.0,,True,15.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.33,E,-0.2744,1.1114,-8.8422,loss_of_function,-5.19218823918737,0.3323281279360115,0.8116665446888375,Pathogenic,0.7004,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136A,NP_000240:p.Lys136Ala,,,,,saturation,,0.53878,0.65034,0.4987399875303822,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,0.0147,2.7069,-4.9707,gain_of_function,-1.61643346415447,0.7737585230995101,0.1444900227794259,Benign,0.1596,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136C,NP_000240:p.Lys136Cys,,,,,saturation,,0.8135,0.76769,0.9884078741547748,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0749,2.7069,-8.7779,loss_of_function,-2.63950569730878,0.6474592636213613,0.7683686438739062,Pathogenic,0.3215,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136D,NP_000240:p.Lys136Asp,,,,,saturation,,0.93971,1.28333,1.176411469047946,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0984,2.7069,-5.7781,loss_of_function,-1.77809010644255,0.7538018538155056,0.1503524574657872,Benign,0.4594,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136E,NP_000240:p.Lys136Glu,,,,,"saturation,clinvar",,0.69881,0.65714,0.6594559357704418,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,643180,Uncertain significance,1,93.26,S,-0.0134,2.7069,-5.6081,loss_of_function,-1.62483187697988,0.772721730890449,0.2058029502619408,Benign,0.1374,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136F,NP_000240:p.Lys136Phe,,,,,saturation,,1.01688,0.92483,-0.0219085123545764,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,S,-0.1436,2.7069,-22.0658,loss_of_function,-3.78103233992208,0.5065366924045434,0.4618329123415228,Uncertain,0.527,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136G,NP_000240:p.Lys136Gly,,,,,saturation,,1.16805,1.85102,1.5047909489571831,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0507,2.7069,-6.1931,loss_of_function,-2.31579600276229,0.6874215393846922,0.2309377805953705,Benign,0.2508,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136H,NP_000240:p.Lys136His,,,,,saturation,,1.27743,0.92653,0.2205700262262233,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0148,2.7069,-8.7779,loss_of_function,-3.07966509586016,0.5931211589520677,0.6580699653928199,Uncertain,0.1891,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136I,NP_000240:p.Lys136Ile,,,,,saturation,,0.72496,-0.18503,-0.3017283058569991,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.26,S,-0.0254,2.7069,-5.3186,loss_of_function,-1.62789897194541,0.7723430950421266,0.2541174871710392,Benign,0.1639,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136L,NP_000240:p.Lys136Leu,,,,,saturation,,0.19745,-0.46837,-0.6942069128924544,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.26,S,-0.0235,2.7069,-5.1931,loss_of_function,-1.17927658828048,0.8277259634320816,0.0380259650828691,Benign,0.1242,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136M,NP_000240:p.Lys136Met,,,,,saturation,,0.17421,-0.09592,-0.0678396546358783,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0826,2.7069,-22.0658,loss_of_function,-2.49694304547283,0.6650587612644625,0.563015329168412,Uncertain,0.1307,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136N,NP_000240:p.Lys136Asn,,,,,saturation,,0.96217,0.68639,0.6705590093641356,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0068,2.7069,-5.6081,loss_of_function,-1.30486106864246,0.8122224375248608,0.0333827659023359,Benign,0.2687,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136P,NP_000240:p.Lys136Pro,,,,,saturation,,5.90627,3.42993,4.808524400376886,Destabilizing,Destabilizing,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.1647,2.7069,-5.9707,loss_of_function,-1.49036880893913,0.7893213270581081,0.0253671017584484,Benign,0.4574,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136Q,NP_000240:p.Lys136Gln,,,,,saturation,,0.4849,0.34116,0.4336276658751553,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,0.0197,2.7069,-4.1342,gain_of_function,-0.1916002529292,0.9496555649953601,0.0254302481079545,Benign,0.0812,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136R,NP_000240:p.Lys136Arg,,,,,"saturation,clinvar",,0.1054,0.72517,-0.0644683316935468,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2874871,Uncertain significance,1,93.26,S,0.0748,2.7069,-6.1931,gain_of_function,-0.565268692199526,0.9035258337400308,0.154461296849735,Benign,0.082,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136S,NP_000240:p.Lys136Ser,,,,,saturation,,0.63662,1.00816,0.9442773649324808,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,0.0117,2.7069,-3.5686,gain_of_function,-0.890102683107928,0.8634247625003475,0.0079522716958642,Benign,0.2162,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136T,NP_000240:p.Lys136Thr,,,,,saturation,,0.35899,0.30476,0.5916434220016494,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,-0.0027,2.7069,-4.0776,loss_of_function,-0.139235044407589,0.9561201007772638,0.0109952947056506,Benign,0.0995,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136V,NP_000240:p.Lys136Val,,,,,saturation,,0.86913,0.01871,-0.0971140405824244,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,S,0.0006,2.7069,-3.3858,gain_of_function,-1.64632666187838,0.7700681788465699,0.0712788024339943,Benign,0.1364,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136W,NP_000240:p.Lys136Trp,,,,,saturation,,0.97755,0.9932,-0.3356882588779741,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,S,-0.1527,2.7069,-22.0658,loss_of_function,-3.78103233992208,0.5065366924045434,0.8543867390029014,Pathogenic,0.5582,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K136Y,NP_000240:p.Lys136Tyr,,,,,saturation,,1.035,0.76871,0.1643160540546873,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,S,-0.0556,2.7069,-7.778,loss_of_function,-3.78103233992208,0.5065366924045434,0.8463277609313364,Pathogenic,0.4552,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137C,NP_000240:p.Ala137Cys,,,,,saturation,,-0.18838,0.01395,0.8665879036372867,Neutral,Neutral,False,0.019,,,0.03328,,,-0.00334,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0503,2.356,-7.8328,loss_of_function,-1.25477631698352,0.8184054486952137,,,0.189,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137D,NP_000240:p.Ala137Asp,,,,,saturation,,0.01869,0.64558,0.3738832215059162,Neutral,Neutral,False,0.019,,,0.14901,,,-0.00277,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1202,2.356,-5.511,loss_of_function,-1.17054322738169,0.8288041053056733,,,0.1447,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137E,NP_000240:p.Ala137Glu,,,,,saturation,,-0.27681,-0.42177,0.1525566623880497,Neutral,Neutral,False,0.019,,,0.16557,,,-0.00308,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1051,2.356,-5.3735,loss_of_function,-1.18479301895109,0.8270449547153144,,,0.1619,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137F,NP_000240:p.Ala137Phe,,,,,saturation,,-1.39321,-1.58946,-0.882919479517455,Neutral,Neutral,False,0.019,,,0.02194,,,-0.00581,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1733,2.356,-22.1206,loss_of_function,-2.32458618817519,0.6863363824697186,,,0.1442,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137G,NP_000240:p.Ala137Gly,,,,,"saturation,clinvar",,-0.04621,0.37993,1.0159229633151243,Neutral,Neutral,False,0.019,,,0.02172,,,0.00731,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2676580,Uncertain significance,2,92.7,S,-0.0169,2.356,-2.5661,loss_of_function,-0.22335205209779,0.9457357745913847,,,0.0601,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137H,NP_000240:p.Ala137His,,,,,saturation,,-0.42662,-0.80646,-0.3709964507065932,Neutral,Neutral,False,0.019,,,0.01974,,,-0.00222,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0994,2.356,-6.8329,loss_of_function,-1.62625913774579,0.7725455341645728,,,0.2572,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137I,NP_000240:p.Ala137Ile,,,,,saturation,,0.37285,-0.21939,-0.2506001212387559,Neutral,Neutral,False,0.019,,,0.01011,,,-0.01135,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0899,2.356,-7.8328,loss_of_function,-1.99244225190596,0.7273398735542372,,,0.1214,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137K,NP_000240:p.Ala137Lys,,,,,saturation,,-0.28019,-0.12279,0.1935719265546964,Neutral,Neutral,False,0.019,,,-0.05993,,,0.00877,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1274,2.356,-8.8328,loss_of_function,-1.72648209478818,0.7601729129097303,,,0.342,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137L,NP_000240:p.Ala137Leu,,,,,saturation,,-0.52607,-0.65374,-0.5821508280964977,Neutral,Neutral,False,0.019,,,0.02153,,,-0.00735,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1676,2.356,-22.1206,loss_of_function,-2.18952927432358,0.7030092894787096,,,0.0836,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137M,NP_000240:p.Ala137Met,,,,,saturation,,-1.31677,0.05544,-0.1464196868668182,Neutral,Neutral,False,0.019,,,0.0171,,,0.0035,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0585,2.356,-8.8328,loss_of_function,-2.59919972002478,0.6524350756105275,,,0.1123,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137N,NP_000240:p.Ala137Asn,,,,,saturation,,-0.41904,0.45748,0.3500637051068161,Neutral,Neutral,False,0.019,,,0.0308,,,-0.00866,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0943,2.356,-6.2479,loss_of_function,-1.36752734029657,0.8044862255080726,,,0.1129,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137P,NP_000240:p.Ala137Pro,,,,,saturation,,1.97582,4.72177,2.956427603683212,Uncertain,Uncertain,False,0.019,,,0.00522,,,-0.01011,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1503,2.356,-3.6234,loss_of_function,-1.48378504110238,0.7901340995832639,,,0.2287,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137Q,NP_000240:p.Ala137Gln,,,,,saturation,,-0.63351,-0.07891,0.2968570701612827,Neutral,Neutral,False,0.019,,,0.02258,,,-0.03118,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.0969,2.356,-7.2479,loss_of_function,-1.52047553436576,0.7856046226031629,,,0.2089,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137R,NP_000240:p.Ala137Arg,,,,,saturation,,-0.73138,0.20442,-0.1432562456853975,Neutral,Neutral,False,0.019,,,-0.14666,,,0.00905,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1381,2.356,-8.8328,loss_of_function,-2.44101278194245,0.6719634065450066,,,0.3471,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137S,NP_000240:p.Ala137Ser,,,,,saturation,,-0.48322,0.02721,0.4784944584584022,Neutral,Neutral,False,0.019,,,0.02746,,,0.00201,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.7,S,0.0078,2.356,-3.3735,gain_of_function,-0.252051150121865,0.9421928431045669,,,0.0681,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137T,NP_000240:p.Ala137Thr,,,,,"saturation,clinvar",,-0.05261,-0.60578,0.3267656764809956,Neutral,Neutral,False,0.019,,,0.00627,,,0.02578,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,234444,Uncertain significance,2,92.7,S,-0.0061,2.356,-4.926,loss_of_function,-0.0810687430779071,0.9633007870929032,,,0.067,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137V,NP_000240:p.Ala137Val,,,,,"saturation,clinvar",,0.66345,-0.43878,-0.1092535211360146,Neutral,Neutral,False,0.019,,,-0.00176,,,0.0034,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,185670,Uncertain significance,2,92.7,S,-0.0099,2.356,-6.2479,loss_of_function,-0.930239689099849,0.8584698101810765,,,0.0757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137W,NP_000240:p.Ala137Trp,,,,,saturation,,-0.45301,2.79524,-1.3026285706858092,Uncertain,Neutral,False,0.019,,,-5e-05,,,-0.00132,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1842,2.356,-22.1206,loss_of_function,-2.32458618817519,0.6863363824697186,,,0.4371,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A137Y,NP_000240:p.Ala137Tyr,,,,,saturation,,-1.61184,-1.91054,-0.8538367951371423,Neutral,Neutral,False,0.019,,,0.02384,,,-0.02807,Neutral,Uncertain,Uncertain,62.2,,True,62.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.7,S,-0.1925,2.356,-22.1206,loss_of_function,-1.61240257833179,0.774256139863945,,,0.2174,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138A,NP_000240:p.Pro138Ala,,,,,saturation,,1.00972,0.77381,-0.0708668274332957,Neutral,Neutral,False,0.019,,,0.03622,,,-0.00152,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.84,-,-0.0426,2.0773,-3.8361,loss_of_function,-0.503568763413966,0.9111427497924239,0.0016256578013475,Benign,0.048,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138C,NP_000240:p.Pro138Cys,,,,,saturation,,1.12251,1.20476,0.6818992832564393,Neutral,Neutral,False,0.019,,,-0.00411,,,0.0011,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,-,-0.1687,2.0773,-22.1238,loss_of_function,-2.77882739628931,0.630259864751717,0.6013564598112406,Uncertain,0.1969,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138D,NP_000240:p.Pro138Asp,,,,,saturation,,1.02411,0.79558,-0.0649368118434057,Neutral,Neutral,False,0.019,,,0.26578,,,0.00343,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,-,-0.1008,2.0773,-3.7486,loss_of_function,-0.753059471792373,0.8803428798578063,0.0013342977896014,Benign,0.1722,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138E,NP_000240:p.Pro138Glu,,,,,saturation,,0.36363,0.50578,-0.2473284523671925,Neutral,Neutral,False,0.019,,,0.31411,,,0.00383,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.083,2.0773,-3.4437,loss_of_function,-0.89221050380461,0.8631645499909307,0.0033142659939958,Benign,0.1345,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138F,NP_000240:p.Pro138Phe,,,,,saturation,,0.44597,0.67891,-0.4811170946404985,Neutral,Neutral,False,0.019,,,0.0244,,,0.00214,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.1293,2.0773,-8.8359,loss_of_function,-3.09083696733515,0.5917419805826911,0.3035250109373979,Benign,0.1772,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138G,NP_000240:p.Pro138Gly,,,,,saturation,,1.42595,1.80476,0.4417515967932878,Neutral,Neutral,False,0.019,,,0.04263,,,0.00411,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.84,-,-0.0774,2.0773,-7.836,loss_of_function,-1.54101282804724,0.7830692737787119,0.009841610839332,Benign,0.1406,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138H,NP_000240:p.Pro138His,"hg19,3:g.37048514C>A, hg38,3:g.37007023C>A",,,0.551,"cBioPortal,COSMIC,saturation,clinvar",,0.91595,0.0449,-0.3603937054483419,Neutral,Neutral,False,0.019,,,-0.13853,,,-0.01443,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1738138,Uncertain significance,1,92.84,-,-0.1747,2.0773,-22.1238,loss_of_function,-2.78249206133643,0.6298074582972288,0.3506382783037115,Uncertain,0.1126,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138I,NP_000240:p.Pro138Ile,,,,,saturation,,0.9118,0.52687,-0.3937113671369835,Neutral,Neutral,False,0.019,,,0.02547,,,0.00828,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.1021,2.0773,-6.836,loss_of_function,-1.37198286102894,0.8039361871521759,0.1062403910458737,Benign,0.0951,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138K,NP_000240:p.Pro138Lys,,,,,saturation,,0.5561,-0.33537,-0.2664940381995789,Neutral,Neutral,False,0.019,,,-0.3411,,,-0.00135,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.0839,2.0773,-5.2511,loss_of_function,-1.81090506431944,0.7497508154378149,0.0230151905475879,Benign,0.1452,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138L,NP_000240:p.Pro138Leu,,,,,"saturation,clinvar",,0.71408,0.44626,-0.5734931399604282,Neutral,Neutral,False,0.019,,,0.01574,,,0.00131,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1500828,Uncertain significance,1,92.84,-,-0.1067,2.0773,-6.836,loss_of_function,-1.93062666485369,0.7349710677318345,0.0818992129773578,Benign,0.0607,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138M,NP_000240:p.Pro138Met,,,,,saturation,,0.60496,0.77381,-0.2347101676484347,Neutral,Neutral,False,0.019,,,-0.02271,,,0.01047,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.1357,2.0773,-22.1238,loss_of_function,-3.31528016988455,0.5640342495366685,0.5618812491677414,Uncertain,0.107,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138N,NP_000240:p.Pro138Asn,,,,,saturation,,1.10299,1.00952,0.1153140684343023,Neutral,Neutral,False,0.019,,,0.03002,,,0.00227,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,-,-0.0847,2.0773,-6.836,loss_of_function,-1.15660291942193,0.8305250498442487,0.017144357405491,Benign,0.1189,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138Q,NP_000240:p.Pro138Gln,,,,,saturation,,0.72628,0.72857,0.0142866961547244,Neutral,Neutral,False,0.019,,,0.00305,,,0.00154,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.0789,2.0773,-5.3766,loss_of_function,-0.422032386066458,0.9212084946595002,0.0062371241956054,Benign,0.0826,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138R,NP_000240:p.Pro138Arg,"hg19,3:g.37048514C>G, hg38,3:g.37007023C>G",,3.9771868562e-06,0.452,"cBioPortal,COSMIC,saturation,clinvar",,0.54257,0.73435,-0.3296275582218028,Neutral,Neutral,False,0.019,,,-0.50024,,,-0.03843,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,486857,Uncertain significance,2,92.84,-,-0.2058,2.0773,-22.1238,loss_of_function,-1.87119042530016,0.7423085291529428,0.0985570838972781,Benign,0.1348,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138S,NP_000240:p.Pro138Ser,,,,,"saturation,clinvar",,1.17338,0.67381,-0.0020536826786904,Neutral,Neutral,False,0.019,,,0.03828,,,-0.0118,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,1738074,Uncertain significance,1,92.84,-,-0.0535,2.0773,-6.0287,loss_of_function,-0.340361561670735,0.9312908371450809,0.0257445084604215,Benign,0.0666,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138T,NP_000240:p.Pro138Thr,,,,,saturation,,1.15928,0.64456,-0.0188967615198321,Neutral,Neutral,False,0.019,,,0.00038,,,-0.01372,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,-,-0.0623,2.0773,-5.3766,loss_of_function,-0.764545076708106,0.8789249707908745,0.0135167430230026,Benign,0.0588,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138V,NP_000240:p.Pro138Val,,,,,saturation,,1.13414,0.62789,-0.2690815242221817,Neutral,Neutral,False,0.019,,,0.00355,,,0.0071,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.0558,2.0773,-6.5141,loss_of_function,-1.2055029263416,0.8244882965610627,0.0128466939717581,Benign,0.0758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138W,NP_000240:p.Pro138Trp,,,,,saturation,,0.29211,0.62109,-0.7752968435836083,Neutral,Neutral,False,0.019,,,0.03921,,,-0.00438,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.2096,2.0773,-22.1238,loss_of_function,-3.48761905943485,0.5427588464672487,0.7600584997656599,Pathogenic,0.3822,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P138Y,NP_000240:p.Pro138Tyr,,,,,saturation,,0.4405,0.47823,-0.4100720253906764,Neutral,Neutral,False,0.019,,,0.06067,,,0.0125,Neutral,Uncertain,Uncertain,88.6,,True,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,-,-0.1981,2.0773,-22.1238,loss_of_function,-3.48761905943485,0.5427588464672487,0.4258822876942807,Uncertain,0.211,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139A,NP_000240:p.Pro139Ala,,,,,"saturation,clinvar",,1.95069,0.62585,-0.0517374839661788,Neutral,Neutral,False,0.01,,,-0.00263,,,0.00837,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,187211,Uncertain significance,2,94.03,-,-0.1651,0.8394,-5.5141,loss_of_function,-1.92943886881229,0.7351177023052091,0.0247189808049179,Benign,0.0621,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139C,NP_000240:p.Pro139Cys,,,,,saturation,,1.98586,1.38605,0.3097831383415228,Neutral,Neutral,False,0.01,,,-0.00264,,,0.02661,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.03,-,-0.2147,0.8394,-8.8359,loss_of_function,-4.12102104173616,0.46456475740474074,0.5692492334628556,Uncertain,0.3338,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139D,NP_000240:p.Pro139Asp,,,,,saturation,,4.13788,5.50816,2.1019457335808807,Destabilizing,Uncertain,False,0.01,,,0.28991,,,0.04831,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.03,-,-0.3084,0.8394,-22.1238,loss_of_function,-5.89517425977363,0.2455438218564782,0.6975689518210886,Pathogenic,0.8966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139E,NP_000240:p.Pro139Glu,,,,,saturation,,2.59116,3.37279,1.8182401735880784,Uncertain,Uncertain,False,0.01,,,0.14873,,,-0.00207,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.2244,0.8394,-8.8359,loss_of_function,-5.53374607975721,0.29016248123487604,0.5784096583233848,Uncertain,0.6399,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139F,NP_000240:p.Pro139Phe,,,,,saturation,,4.86483,4.3068,-0.074254152859926,Destabilizing,Uncertain,False,0.01,,,-0.01935,,,0.00022,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.311,0.8394,-22.1238,loss_of_function,-6.41598836823731,0.18124881502012935,0.6670499361445393,Uncertain,0.5631,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139G,NP_000240:p.Pro139Gly,,,,,saturation,,3.61818,2.76497,1.7795742361239175,Uncertain,Uncertain,False,0.01,,,-0.01105,,,-0.00067,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.03,-,-0.1964,0.8394,-8.8359,loss_of_function,-5.42612304232908,0.3034486495908025,0.7773531231238648,Pathogenic,0.4258,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139H,NP_000240:p.Pro139His,"hg19,3:g.37048517C>A, hg38,3:g.37007026C>A",,,0.639,"cBioPortal,COSMIC,saturation",,4.96119,2.02211,0.8149916172654753,Uncertain,Uncertain,False,0.01,,,-0.00934,,,0.01346,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.2886,0.8394,-22.1238,loss_of_function,-6.41598836823731,0.18124881502012935,0.6978560896527397,Pathogenic,0.4853,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139I,NP_000240:p.Pro139Ile,,,,,saturation,,1.14977,1.4585,-0.449554120790252,Neutral,Neutral,False,0.01,,,0.08652,,,0.0865,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.2079,0.8394,-5.2511,loss_of_function,-2.06230031696257,0.718715827666467,0.0172320402438488,Benign,0.1697,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139K,NP_000240:p.Pro139Lys,,,,,saturation,,2.91361,7.11259,1.999358496669433,Uncertain,Uncertain,False,0.01,,,-0.05089,,,0.00707,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.2839,0.8394,-22.1238,loss_of_function,-5.86814793578681,0.24888024776594475,0.5023108104269706,Uncertain,0.6744,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139L,NP_000240:p.Pro139Leu,,,,,"saturation,clinvar",,2.08121,4.02551,-0.2201775436131753,Uncertain,Uncertain,False,0.01,,,-0.00429,,,0.12903,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1738407,Uncertain significance,2,94.03,-,-0.2176,0.8394,-6.2511,loss_of_function,-1.18544677188597,0.8269642482814173,0.0911447287298987,Benign,0.1236,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139M,NP_000240:p.Pro139Met,,,,,saturation,,1.41236,1.55034,0.0718364113590808,Neutral,Neutral,False,0.01,,,-0.02145,,,-0.02837,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.1737,0.8394,-7.251,loss_of_function,-2.73589538792555,0.6355598628247121,0.3794253568521565,Uncertain,0.2866,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139N,NP_000240:p.Pro139Asn,,,,,saturation,,3.24867,1.60578,0.7319623415094891,Uncertain,Uncertain,False,0.01,,,-0.00206,,,0.05648,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.03,-,-0.2766,0.8394,-22.1238,loss_of_function,-5.89517425977363,0.2455438218564782,0.6876013398696164,Pathogenic,0.7138,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139Q,NP_000240:p.Pro139Gln,,,,,saturation,,2.71982,2.60272,0.8646852170393645,Uncertain,Uncertain,False,0.01,,,-0.00032,,,0.03694,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.2783,0.8394,-22.1238,loss_of_function,-5.56562035877743,0.28622757057442166,0.5390333682784406,Uncertain,0.3651,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139R,NP_000240:p.Pro139Arg,,,,,"saturation,clinvar",,3.36959,15.05442,1.271751179114148,Destabilizing,Uncertain,False,0.01,,,-0.10574,,,0.02286,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1738402,Uncertain significance,1,94.03,-,-0.3197,0.8394,-22.1238,loss_of_function,-6.19168594060811,0.20893916726571324,0.6019587068459754,Uncertain,0.5208,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139S,NP_000240:p.Pro139Ser,,,,,saturation,,3.46866,1.65374,0.9806691192365258,Uncertain,Uncertain,False,0.01,,,-0.00263,,,0.03125,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.03,-,-0.1737,0.8394,-7.251,loss_of_function,-1.83536800318538,0.7467308419077919,0.2502097144047057,Benign,0.198,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139T,NP_000240:p.Pro139Thr,,,,,"saturation,clinvar",,2.9863,1.37721,0.2374138110391477,Uncertain,Uncertain,False,0.01,,,-0.01323,,,0.02245,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,962832,Uncertain significance,1,94.03,-,-0.1888,0.8394,-7.836,loss_of_function,-3.94874575781383,0.48583230829769547,0.5992944059148076,Uncertain,0.1645,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139V,NP_000240:p.Pro139Val,,,,,saturation,,1.13246,0.50612,-0.6138387426192482,Neutral,Neutral,False,0.01,,,0.00714,,,0.06009,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.1622,0.8394,-5.0287,loss_of_function,-2.04560405786434,0.7207769970461307,0.0016354484797004,Benign,0.1166,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139W,NP_000240:p.Pro139Trp,,,,,saturation,,4.2785,0.75,0.7352064510316794,Uncertain,Uncertain,False,0.01,,,-0.03106,,,-0.05587,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.3235,0.8394,-22.1238,loss_of_function,-6.41598836823731,0.18124881502012935,0.93620429717632,Pathogenic,0.7767,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P139Y,NP_000240:p.Pro139Tyr,,,,,saturation,,5.09777,0.52619,0.3082952062937683,Uncertain,Uncertain,False,0.01,,,-0.00757,,,-0.01217,Neutral,,,9.5,,True,9.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.03,-,-0.312,0.8394,-22.1238,loss_of_function,-6.41598836823731,0.18124881502012935,0.6985014315345688,Pathogenic,0.6517,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140A,NP_000240:p.Lys140Ala,,,,,saturation,,0.3873,0.78741,0.0468397701078632,Neutral,Neutral,False,0.004,,,0.36176,,,0.04304,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.1529,0.9445,-6.0287,loss_of_function,-3.18507489843699,0.5801082165851885,0.6089173645240649,Uncertain,0.3851,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140C,NP_000240:p.Lys140Cys,,,,,saturation,,0.32283,1.60374,0.6637976731899187,Neutral,Neutral,False,0.004,,,0.33274,,,0.03573,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.3052,0.9445,-22.1238,loss_of_function,-4.03158844483498,0.4756052982343961,0.951361375032201,Pathogenic,0.6015,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140D,NP_000240:p.Lys140Asp,,,,,saturation,,0.47641,1.34558,-0.0916727271346895,Neutral,Neutral,False,0.004,,,0.57376,,,0.02843,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.344,0.9445,-22.1238,loss_of_function,-4.45627124296804,0.42317779489776364,0.872957567953636,Pathogenic,0.908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140E,NP_000240:p.Lys140Glu,,,,,saturation,,0.22954,0.37279,-0.1336330830717752,Neutral,Neutral,False,0.004,,,0.48835,,,0.0337,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.1921,0.9445,-8.8359,loss_of_function,-3.01019869922521,0.601696852993298,0.7674140855619775,Pathogenic,0.4203,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140F,NP_000240:p.Lys140Phe,,,,,saturation,,-0.34335,-0.21327,-0.1749691223493943,Neutral,Neutral,False,0.004,,,0.31514,,,-0.01056,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.05,E,-0.3061,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.963447057664072,Pathogenic,0.7975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140G,NP_000240:p.Lys140Gly,,,,,saturation,,0.97583,1.59694,0.634838783462944,Neutral,Neutral,False,0.004,,,0.35959,,,0.04006,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.2942,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.8627986962065717,Pathogenic,0.5863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140H,NP_000240:p.Lys140His,,,,,saturation,,0.40595,0.49116,-0.2156856342742219,Neutral,Neutral,False,0.004,,,-0.02781,,,0.01628,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.2451,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.8952205909813868,Pathogenic,0.4047,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140I,NP_000240:p.Lys140Ile,,,,,saturation,,-0.19274,-0.1449,-0.2347754595756646,Neutral,Neutral,False,0.004,,,0.12633,,,0.02751,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.05,E,-0.1953,0.9445,-6.836,loss_of_function,-3.4809310626179,0.5435844861611036,0.5201925728413632,Uncertain,0.3213,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140L,NP_000240:p.Lys140Leu,,,,,saturation,,-0.21793,-0.20782,-0.4341709247442143,Neutral,Neutral,False,0.004,,,0.21632,,,-0.00717,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.05,E,-0.194,0.9445,-6.836,loss_of_function,-3.53621658843722,0.5367594343763319,0.3637137671463502,Uncertain,0.3572,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140M,NP_000240:p.Lys140Met,,,,,saturation,,-0.39332,0.68197,-0.108382058362022,Neutral,Neutral,False,0.004,,,0.26242,,,-0.04052,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.2451,0.9445,-22.1238,loss_of_function,-4.51369897875845,0.41608828521429475,0.9400474804867164,Pathogenic,0.3048,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140N,NP_000240:p.Lys140Asn,,,,,saturation,,0.34355,0.71667,-0.0253351077898927,Neutral,Neutral,False,0.004,,,0.4676,,,0.02005,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.2532,0.9445,-22.1238,loss_of_function,-1.16632763064861,0.8293245248111514,0.8601055321534017,Pathogenic,0.7495,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140P,NP_000240:p.Lys140Pro,,,,,saturation,,1.41476,2.41735,1.3453096905837392,Uncertain,Neutral,False,0.004,,,0.35495,,,0.05993,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.4093,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.9859014621271984,Pathogenic,0.9238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140Q,NP_000240:p.Lys140Gln,,,,,saturation,,-0.12488,-0.62381,0.0817103107661854,Neutral,Neutral,False,0.004,,,0.44146,,,-0.03328,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.1532,0.9445,-6.2511,loss_of_function,-3.18131834751878,0.5805719664395845,0.3807096722020723,Uncertain,0.1604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140R,NP_000240:p.Lys140Arg,,,,,saturation,,-0.14299,0.3398,-0.2786034739279769,Neutral,Neutral,False,0.004,,,-0.05257,,,-0.0112,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.05,E,-0.0791,0.9445,-4.5881,loss_of_function,-0.511235287856797,0.9101963099140633,0.0209988571137917,Benign,0.0806,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140S,NP_000240:p.Lys140Ser,,,,,saturation,,0.69329,0.76395,0.1579895245671042,Neutral,Neutral,False,0.004,,,0.34454,,,0.05661,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.1773,0.9445,-8.8359,loss_of_function,-3.56550991886221,0.5331431443232649,0.7841105567437963,Pathogenic,0.5775,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140T,NP_000240:p.Lys140Thr,"hg19,3:g.37048520A>C",,,0.603,"cBioPortal,saturation",,0.49925,-0.01497,0.0583617588496493,Neutral,Neutral,False,0.004,,,0.25933,,,0.02647,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.179,0.9445,-6.836,loss_of_function,-2.70343103787107,0.6395676183266659,0.2700353993871688,Benign,0.2843,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140V,NP_000240:p.Lys140Val,,,,,saturation,,0.29693,-0.45,-0.2122572674338574,Neutral,Neutral,False,0.004,,,0.2304,,,0.02297,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.05,E,-0.1686,0.9445,-4.7486,loss_of_function,-2.6702054888972,0.6436693445735181,0.1699212087792381,Benign,0.2656,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140W,NP_000240:p.Lys140Trp,,,,,saturation,,-0.24451,1.07041,-0.4556669222234294,Neutral,Neutral,False,0.004,,,0.31844,,,-0.00309,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.05,E,-0.3151,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.9856435254961048,Pathogenic,0.8372,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K140Y,NP_000240:p.Lys140Tyr,,,,,saturation,,-0.08875,-0.20306,-0.1171729968128326,Neutral,Neutral,False,0.004,,,0.31924,,,0.01967,Neutral,Uncertain,Uncertain,82.0,,True,82.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.05,E,-0.291,0.9445,-22.1238,loss_of_function,-5.82896144137957,0.2537178585081694,0.9604544465131424,Pathogenic,0.7524,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141A,NP_000240:p.Pro141Ala,,,,,saturation,,1.64461,1.06837,0.2354921684506911,Neutral,Neutral,False,0.006,,,-0.10237,,,0.11457,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.28,E,-0.142,0.9598,-3.1668,loss_of_function,-1.02287869846181,0.8470334346231836,0.0103236683053705,Benign,0.0686,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141C,NP_000240:p.Pro141Cys,,,,,saturation,,1.78949,1.49626,1.052793266822446,Neutral,Neutral,False,0.006,,,-0.11712,,,0.17489,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.28,E,-0.2715,0.9598,-22.1269,loss_of_function,-3.33817356434488,0.5612080377858462,0.9598874175077166,Pathogenic,0.5377,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141D,NP_000240:p.Pro141Asp,,,,,saturation,,2.35354,0.5102,0.6033773040939779,Uncertain,Uncertain,False,0.006,,,0.52355,,,0.05071,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.28,E,-0.2974,0.9598,-22.1269,loss_of_function,-3.71954251195897,0.5141276713066245,0.7669997676716933,Pathogenic,0.9135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141E,NP_000240:p.Pro141Glu,,,,,saturation,,1.60149,1.12449,0.1009490627293507,Neutral,Neutral,False,0.006,,,0.83846,,,-0.51277,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2812,0.9598,-22.1269,loss_of_function,-3.42289655711651,0.5507489021539093,0.7779804816660927,Pathogenic,0.6472,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141F,NP_000240:p.Pro141Phe,,,,,saturation,,1.32038,1.28946,-0.3831940758705576,Neutral,Neutral,False,0.006,,,0.12919,,,-0.31043,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2999,0.9598,-22.1269,loss_of_function,-4.47287302018557,0.4211282893979119,0.9071994175285004,Pathogenic,0.7448,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141G,NP_000240:p.Pro141Gly,,,,,saturation,,1.79915,2.19252,1.4257321514520915,Uncertain,Neutral,False,0.006,,,0.37158,,,0.22013,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.28,E,-0.171,0.9598,-6.0318,loss_of_function,-3.04972380057532,0.5968174408955554,0.3047154937381494,Benign,0.4429,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141H,NP_000240:p.Pro141His,,,,,saturation,,1.9572,0.62551,-0.2061989364798394,Neutral,Neutral,False,0.006,,,0.09308,,,0.14322,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2775,0.9598,-22.1269,loss_of_function,-4.47287302018557,0.4211282893979119,0.8459619081198195,Pathogenic,0.5289,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141I,NP_000240:p.Pro141Ile,,,,,saturation,,1.39371,1.06327,-0.5171744390131394,Neutral,Neutral,False,0.006,,,-0.73124,,,-0.24373,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2829,0.9598,-22.1269,loss_of_function,-3.77007398522601,0.5078895119204686,0.8777618714582979,Pathogenic,0.4973,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141K,NP_000240:p.Pro141Lys,,,,,saturation,,1.66093,0.90272,0.0364102754700462,Neutral,Neutral,False,0.006,,,-0.20591,,,0.05933,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.197,0.9598,-7.2542,loss_of_function,-3.14395109607408,0.5851849898735688,0.4339008509153046,Uncertain,0.6354,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141L,NP_000240:p.Pro141Leu,,,,,"saturation,clinvar",,1.46102,1.18503,-0.6383197333795576,Neutral,Neutral,False,0.006,,,-0.21163,,,-0.25943,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455433,Uncertain significance,2,95.28,E,-0.2095,0.9598,-6.8392,loss_of_function,-1.52653706110673,0.7848563212478118,0.2230195860962546,Benign,0.2162,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141M,NP_000240:p.Pro141Met,,,,,saturation,,1.18623,1.18197,-0.1555425033995211,Neutral,Neutral,False,0.006,,,-0.78098,,,-0.30458,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2385,0.9598,-22.1269,loss_of_function,-3.31017537497335,0.5646644414196841,0.531957639636478,Uncertain,0.4517,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141N,NP_000240:p.Pro141Asn,,,,,saturation,,1.88358,1.30952,0.4863525116327633,Neutral,Neutral,False,0.006,,,0.34942,,,0.24897,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.28,E,-0.2655,0.9598,-22.1269,loss_of_function,-3.7252787137509,0.5134195316317707,0.8360645102987976,Pathogenic,0.7348,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141Q,NP_000240:p.Pro141Gln,,,,,saturation,,1.59009,0.62245,0.2502575431624593,Neutral,Neutral,False,0.006,,,0.26756,,,-0.47435,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2672,0.9598,-22.1269,loss_of_function,-1.50647459024694,0.7873330527343863,0.5840607453288164,Uncertain,0.3288,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141R,NP_000240:p.Pro141Arg,,,,,"saturation,clinvar",,1.8123,1.39116,-0.2352049546713996,Neutral,Neutral,False,0.006,,,-0.30331,,,0.14249,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,565359,Uncertain significance,2,95.28,E,-0.2357,0.9598,-7.8391,loss_of_function,-2.4864036905201,0.6663598548556776,0.4581546116060992,Uncertain,0.414,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141S,NP_000240:p.Pro141Ser,,,,,"saturation,clinvar",,2.06008,1.25612,0.5916326142066236,Uncertain,Uncertain,False,0.006,,,0.17397,,,-0.34735,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1009131,Uncertain significance,1,95.28,E,-0.1545,0.9598,-5.6693,loss_of_function,-1.72701680165546,0.7601069028283433,0.1968085434355196,Benign,0.2721,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141T,NP_000240:p.Pro141Thr,,,,,"saturation,clinvar",,2.25884,1.21088,0.1407510299406844,Uncertain,Uncertain,False,0.006,,,0.12028,,,-0.2331,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1445047,Uncertain significance,1,95.28,E,-0.2506,0.9598,-22.1269,loss_of_function,-2.66237912398758,0.6446355169125358,0.5778500751871449,Uncertain,0.299,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141V,NP_000240:p.Pro141Val,,,,,saturation,,2.1199,1.00204,-0.3779527207760214,Uncertain,Uncertain,False,0.006,,,-0.3315,,,-0.10226,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.1705,0.9598,-8.8391,loss_of_function,-2.86114559867333,0.620097602825578,0.5551581603533753,Uncertain,0.3226,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141W,NP_000240:p.Pro141Trp,,,,,saturation,,1.28195,1.36667,-0.6789132207633392,Neutral,Neutral,False,0.006,,,0.37835,,,-1.14497,Uncertain,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.3124,0.9598,-22.1269,loss_of_function,-4.47287302018557,0.4211282893979119,0.9472874392179182,Pathogenic,0.8801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P141Y,NP_000240:p.Pro141Tyr,,,,,saturation,,1.36818,1.24796,-0.260348641761785,Neutral,Neutral,False,0.006,,,0.1271,,,-0.14915,Neutral,Uncertain,Uncertain,62.6,,False,62.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.28,E,-0.2331,0.9598,-8.8391,loss_of_function,-3.35957492305402,0.5585660192956591,0.6619617097690194,Uncertain,0.7625,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142A,NP_000240:p.Cys142Ala,,,,,saturation,,0.37332,0.5966,0.7068110831140861,Neutral,Neutral,False,0.008,,,0.00474,,,0.0113,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.5,E,-0.2725,1.4636,-5.5204,loss_of_function,-1.91182731765864,0.7372918653768719,0.5970024155092809,Uncertain,0.3839,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142D,NP_000240:p.Cys142Asp,,,,,saturation,,0.42037,0.5966,1.390459277004595,Neutral,Neutral,False,0.008,,,0.05627,,,-0.25352,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,E,-0.4645,1.4636,-22.1301,loss_of_function,-4.66833252849662,0.3969986235173942,0.8937697022468729,Pathogenic,0.9809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142E,NP_000240:p.Cys142Glu,,,,,saturation,,0.49666,1.20238,1.5128821201246716,Neutral,Neutral,False,0.008,,,0.31517,,,-0.05705,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.4522,1.4636,-22.1301,loss_of_function,-4.66833252849662,0.3969986235173942,0.9246559734625974,Pathogenic,0.9725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142F,NP_000240:p.Cys142Phe,,,,,"saturation,clinvar",,-0.38069,3.97041,0.2116976641681156,Uncertain,Neutral,False,0.008,,,-0.17225,,,0.0196,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,838244,Uncertain significance,1,94.5,E,-0.2835,1.4636,-8.8422,loss_of_function,-3.83882817221389,0.4994017408509534,0.6794649960078845,Uncertain,0.4408,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142G,NP_000240:p.Cys142Gly,,,,,"saturation,clinvar",,1.22021,1.80952,2.2119598230420427,Neutral,Uncertain,False,0.008,,,-0.04472,,,0.09805,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1739084,Uncertain significance,1,94.5,E,-0.2819,1.4636,-8.8422,loss_of_function,-5.3135581885012,0.31734488997443044,0.8453319335289277,Pathogenic,0.3628,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142H,NP_000240:p.Cys142His,,,,,saturation,,0.49089,0.56667,0.5261047752469694,Neutral,Neutral,False,0.008,,,0.11269,,,-0.06804,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.463,1.4636,-22.1301,loss_of_function,-4.40132858888487,0.42996051883415043,0.8675239288845455,Pathogenic,0.9126,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142I,NP_000240:p.Cys142Ile,,,,,saturation,,0.47837,1.58061,-0.2826519955616413,Neutral,Neutral,False,0.008,,,-0.0243,,,-0.01804,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.2939,1.4636,-5.035,loss_of_function,-2.48107705794123,0.6670174328139311,0.1596557575418543,Benign,0.4096,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142K,NP_000240:p.Cys142Lys,,,,,saturation,,0.53489,2.0,1.4894752549484165,Uncertain,Neutral,False,0.008,,,-0.1586,,,0.00513,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.3769,1.4636,-7.2573,loss_of_function,-3.57028439842636,0.5325537301902213,0.8286187752241918,Pathogenic,0.9785,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142L,NP_000240:p.Cys142Leu,,,,,saturation,,-0.07662,0.38503,0.0455647463700964,Neutral,Neutral,False,0.008,,,0.00404,,,0.01555,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.3345,1.4636,-6.5204,loss_of_function,-1.965344598524,0.7306851051467174,0.2351478050353016,Benign,0.5727,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142M,NP_000240:p.Cys142Met,,,,,saturation,,-0.23902,1.24592,0.5990909855636763,Neutral,Neutral,False,0.008,,,-0.12029,,,0.00643,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.3018,1.4636,-6.5204,loss_of_function,-2.01496449255922,0.724559481100886,0.1638356296290402,Benign,0.599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142N,NP_000240:p.Cys142Asn,,,,,saturation,,0.15777,0.78469,0.7236787116414611,Neutral,Neutral,False,0.008,,,-0.15663,,,-0.27191,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.4069,1.4636,-22.1301,loss_of_function,-4.66833252849662,0.3969986235173942,0.9167132473939285,Pathogenic,0.845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142P,NP_000240:p.Cys142Pro,,,,,saturation,,4.07758,5.95714,4.872998781383163,Destabilizing,Destabilizing,False,0.008,,,-0.03521,,,0.27579,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,E,-0.4756,1.4636,-22.1301,loss_of_function,-5.3135581885012,0.31734488997443044,0.9767327192937332,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142Q,NP_000240:p.Cys142Gln,,,,,saturation,,0.63215,1.10374,1.195149359597018,Neutral,Neutral,False,0.008,,,-0.21912,,,0.02925,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.3631,1.4636,-8.8422,loss_of_function,-3.57459975167759,0.532020995645822,0.7057852276051121,Pathogenic,0.8674,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142R,NP_000240:p.Cys142Arg,,,,,"saturation,clinvar",,0.4108,1.31156,0.7443518206427435,Neutral,Neutral,False,0.008,,,-0.94615,,,-0.0474,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455435,Uncertain significance,2,94.5,E,-0.4095,1.4636,-22.1301,loss_of_function,-4.26192093968906,0.44717052834123544,0.9036173152035876,Pathogenic,0.8771,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142S,NP_000240:p.Cys142Ser,,,,,"saturation,clinvar",,0.46505,1.44694,1.305194850337454,Neutral,Neutral,False,0.008,,,-0.21945,,,-0.04715,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"455436, 455434","Uncertain significance, Uncertain significance","2, 2",94.5,E,-0.2722,1.4636,-7.2573,loss_of_function,-2.12838693319842,0.7105573707936125,0.6026584695320506,Uncertain,0.3399,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142T,NP_000240:p.Cys142Thr,,,,,saturation,,0.71157,0.04694,0.5319652858861442,Neutral,Neutral,False,0.008,,,0.0787,,,-0.03545,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.2883,1.4636,-3.6329,loss_of_function,-1.3923929947708,0.8014165363456056,0.0181165262155581,Benign,0.3174,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142V,NP_000240:p.Cys142Val,,,,,saturation,,-0.60433,0.01361,-0.2926879293725343,Neutral,Neutral,False,0.008,,,0.10779,,,-0.01007,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.285,1.4636,-3.6724,loss_of_function,-2.45443085356389,0.6703069325889228,0.0614016295898536,Benign,0.2855,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142W,NP_000240:p.Cys142Trp,,,,,"saturation,clinvar",,0.36494,1.20714,0.0755883839194354,Neutral,Neutral,False,0.008,,,-0.57882,,,-0.16515,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,923619,Uncertain significance,1,94.5,E,-0.3544,1.4636,-22.1301,loss_of_function,-4.75402205846599,0.38642016793093537,0.928558110275981,Pathogenic,0.8934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C142Y,NP_000240:p.Cys142Tyr,,,,,saturation,,-0.12172,4.14388,0.3332671615766669,Uncertain,Neutral,False,0.008,,,-0.15696,,,0.04555,Neutral,Uncertain,Uncertain,22.8,,False,22.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,E,-0.3606,1.4636,-22.1301,loss_of_function,-4.75402205846599,0.38642016793093537,0.8169259570788296,Pathogenic,0.7667,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143C,NP_000240:p.Ala143Cys,,,,,saturation,,0.29782,0.67823,0.5694919303089324,Neutral,Neutral,False,0.005,,,0.59502,,,0.2353,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3243,0.1707,-22.1269,loss_of_function,-4.34215786069101,0.43726520262038326,0.994921200537684,Pathogenic,0.9508,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143D,NP_000240:p.Ala143Asp,,,,,"saturation,clinvar",,-0.16176,-0.22143,-0.3016723061578852,Neutral,Neutral,False,0.005,,,0.99506,,,0.62084,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1739407,Uncertain significance,1,92.22,-,-0.406,0.1707,-22.1269,loss_of_function,-6.8162750746022,0.13183303287446388,0.9528323211622026,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143E,NP_000240:p.Ala143Glu,,,,,saturation,,-0.52534,-0.31599,-0.4708960172266174,Neutral,Neutral,False,0.005,,,1.1029,,,0.46325,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3917,0.1707,-22.1269,loss_of_function,-6.8162750746022,0.13183303287446388,0.970695287493472,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143F,NP_000240:p.Ala143Phe,,,,,saturation,,0.20065,0.25782,-0.3033156391818736,Neutral,Neutral,False,0.005,,,-0.15461,,,-0.76816,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3744,0.1707,-22.1269,loss_of_function,-6.50945157339878,0.16971069169138528,0.9903413033447406,Pathogenic,0.9802,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143G,NP_000240:p.Ala143Gly,,,,,saturation,,0.25909,0.16361,0.4697023569448921,Neutral,Neutral,False,0.005,,,1.14538,,,0.66354,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.22,-,-0.3178,0.1707,-22.1269,loss_of_function,-5.42050569084768,0.30414211707954664,0.899769525759383,Pathogenic,0.8318,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143H,NP_000240:p.Ala143His,,,,,saturation,,0.16695,0.08129,-0.4731068086919299,Neutral,Neutral,False,0.005,,,0.42832,,,-0.03823,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3107,0.1707,-8.8391,loss_of_function,-5.40004981783489,0.3066674144434765,0.9605765887252596,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143I,NP_000240:p.Ala143Ile,,,,,saturation,,0.34819,0.62755,-0.4191561475052563,Neutral,Neutral,False,0.005,,,0.13921,,,0.30207,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.2961,0.1707,-8.8391,loss_of_function,-7.21410455657469,0.08272059746334415,0.9707318940329152,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143K,NP_000240:p.Ala143Lys,,,,,saturation,,0.2217,-0.22279,-0.3273386632767894,Neutral,Neutral,False,0.005,,,0.49236,,,-0.37457,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3963,0.1707,-22.1269,loss_of_function,-7.21410455657469,0.08272059746334415,0.9554381640134096,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143L,NP_000240:p.Ala143Leu,,,,,saturation,,0.18845,-0.1949,-0.5479228650350082,Neutral,Neutral,False,0.005,,,-0.47438,,,0.33851,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3687,0.1707,-22.1269,loss_of_function,-7.21410455657469,0.08272059746334415,0.9898171145515464,Pathogenic,0.9465,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143M,NP_000240:p.Ala143Met,,,,,saturation,,0.20968,0.13299,-0.2056565592561754,Neutral,Neutral,False,0.005,,,0.15424,,,-0.20756,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3274,0.1707,-22.1269,loss_of_function,-7.21410455657469,0.08272059746334415,0.9911147937923436,Pathogenic,0.9644,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143N,NP_000240:p.Ala143Asn,,,,,saturation,,0.23778,-0.20068,-0.1065659064733609,Neutral,Neutral,False,0.005,,,0.78264,,,0.78754,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3764,0.1707,-22.1269,loss_of_function,-6.16099710060361,0.21272773432989936,0.9512347996428532,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143P,NP_000240:p.Ala143Pro,,,,,saturation,,-0.50398,-0.51565,0.4490238200580843,Neutral,Neutral,False,0.005,,,-0.29142,,,-0.16861,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3729,0.1707,-7.8391,loss_of_function,-4.73858885061826,0.3883254124086698,0.870688004138964,Pathogenic,0.9308,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143Q,NP_000240:p.Ala143Gln,,,,,saturation,,0.05675,-0.20476,-0.0491301060725551,Neutral,Neutral,False,0.005,,,0.80559,,,0.27019,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3739,0.1707,-22.1269,loss_of_function,-6.8162750746022,0.13183303287446388,0.9452541401072404,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143R,NP_000240:p.Ala143Arg,,,,,saturation,,0.26854,0.22585,-0.3930550156821416,Neutral,Neutral,False,0.005,,,1.06986,,,-0.54141,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.407,0.1707,-22.1269,loss_of_function,-7.21410455657469,0.08272059746334415,0.9867350671758552,Pathogenic,0.9866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143S,NP_000240:p.Ala143Ser,"hg19,3:g.37048528G>T",,,0.672,"cBioPortal,saturation,clinvar",,0.16228,-0.52551,-0.1259453474764682,Neutral,Neutral,False,0.005,,,0.66541,,,-0.081,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1026102,Uncertain significance,1,92.22,-,-0.2161,0.1707,-7.8391,loss_of_function,-2.19437505149649,0.7024110735867117,0.6316113907615147,Uncertain,0.576,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143T,NP_000240:p.Ala143Thr,,,,,"saturation,clinvar",,0.20932,-0.25782,-0.160762601784114,Neutral,Neutral,False,0.005,,,0.82269,,,0.17501,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,232279,Uncertain significance,1,92.22,-,-0.2272,0.1707,-8.8391,loss_of_function,-3.50742745078386,0.5403134813427161,0.9494006452978424,Pathogenic,0.9341,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143V,NP_000240:p.Ala143Val,"hg19,3:g.37048529C>T, hg38,3:g.37007038C>T",,,0.754,"cBioPortal,COSMIC,saturation,clinvar",,0.25289,0.41803,-0.2348614875844212,Neutral,Neutral,False,0.005,,,-0.02395,,,0.18114,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,485798,Uncertain significance,2,92.22,-,-0.292,0.1707,-22.1269,loss_of_function,-7.21410455657469,0.08272059746334415,0.9612820953157296,Pathogenic,0.951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143W,NP_000240:p.Ala143Trp,,,,,saturation,,0.18785,0.43367,-0.6429802375970095,Neutral,Neutral,False,0.005,,,0.32073,,,0.21836,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3853,0.1707,-22.1269,loss_of_function,-6.50945157339878,0.16971069169138528,0.9950670844223312,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A143Y,NP_000240:p.Ala143Tyr,,,,,saturation,,0.19161,0.0517,-0.2406274436337352,Neutral,Neutral,False,0.005,,,-0.8771,,,-0.98797,Neutral,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,-,-0.3258,0.1707,-8.8391,loss_of_function,-6.50945157339878,0.16971069169138528,0.9868789080673164,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144A,NP_000240:p.Gly144Ala,,,,,saturation,,2.92644,0.62517,0.4135307075419775,Uncertain,Uncertain,False,0.003,,,0.01547,,,-0.08103,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.2591,0.3881,-4.8329,loss_of_function,-2.62993218856581,0.6486411225611907,0.1796321189628377,Benign,0.4198,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144C,NP_000240:p.Gly144Cys,,,,,"saturation,clinvar",,2.67046,1.18299,0.8973574273721463,Uncertain,Uncertain,False,0.003,,,0.02323,,,-0.04056,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1925275,Uncertain significance,1,88.68,-,-0.3393,0.3881,-8.8328,loss_of_function,-3.49506106425426,0.5418401237541648,0.8996686363014462,Pathogenic,0.7932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144D,NP_000240:p.Gly144Asp,"hg19,3:g.37048532G>A, hg38,3:g.37007041G>A",,,0.803,"cBioPortal,COSMIC,saturation,clinvar",,4.05958,0.4881,1.0501827876494914,Uncertain,Uncertain,False,0.003,,,0.13398,,,-0.02674,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1508046,Uncertain significance,2,88.68,-,-0.4076,0.3881,-22.1206,loss_of_function,-5.93211320086207,0.24098367375139976,0.9911078654133398,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144E,NP_000240:p.Gly144Glu,,,,,saturation,,2.97014,0.97993,0.8821510687703826,Uncertain,Uncertain,False,0.003,,,0.20701,,,0.18991,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4069,0.3881,-22.1206,loss_of_function,-5.93211320086207,0.24098367375139976,0.9656956005926944,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144F,NP_000240:p.Gly144Phe,,,,,saturation,,0.27653,4.25578,-0.8361619897651357,Uncertain,Neutral,False,0.003,,,-0.05458,,,-0.00678,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4452,0.3881,-22.1206,loss_of_function,-5.60169456892224,0.28177417434305174,0.9245183249814972,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144H,NP_000240:p.Gly144His,,,,,saturation,,2.92612,-0.20068,-0.4030786706653527,Uncertain,Uncertain,False,0.003,,,-0.00497,,,-0.10376,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4199,0.3881,-22.1206,loss_of_function,-5.05414128898948,0.3493701578320381,0.8602319175602385,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144I,NP_000240:p.Gly144Ile,,,,,saturation,,5.68876,1.70816,0.4378920783608592,Uncertain,Uncertain,False,0.003,,,0.06189,,,-0.01985,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4909,0.3881,-22.1206,loss_of_function,-5.17321388997463,0.33467052974987,0.9345960999909272,Pathogenic,0.977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144K,NP_000240:p.Gly144Lys,,,,,saturation,,2.98795,1.48912,0.4892287864677636,Uncertain,Uncertain,False,0.003,,,0.06098,,,0.13141,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.3721,0.3881,-8.8328,loss_of_function,-5.23958770829318,0.3264766175013439,0.9555313687069404,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144L,NP_000240:p.Gly144Leu,,,,,saturation,,2.69401,0.39966,-0.4052220709075638,Uncertain,Uncertain,False,0.003,,,0.04001,,,-0.11387,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4591,0.3881,-22.1206,loss_of_function,-5.18475267687183,0.3332460553157439,0.9131308494095538,Pathogenic,0.9605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144M,NP_000240:p.Gly144Met,,,,,saturation,,-0.06412,0.21633,-0.2256341151861529,Neutral,Neutral,False,0.003,,,-0.01591,,,-0.18033,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.3973,0.3881,-22.1206,loss_of_function,-4.46227997282362,0.4224360113691224,0.8122609385305669,Pathogenic,0.9668,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144N,NP_000240:p.Gly144Asn,,,,,saturation,,2.23295,0.1085,0.1857210145470877,Uncertain,Uncertain,False,0.003,,,-0.01532,,,0.06796,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4079,0.3881,-22.1206,loss_of_function,-5.93211320086207,0.24098367375139976,0.9805079279312322,Pathogenic,0.9806,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144P,NP_000240:p.Gly144Pro,,,,,saturation,,10.13946,18.41973,5.363448406828639,Destabilizing,Destabilizing,False,0.003,,,-0.16974,,,0.12399,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.505,0.3881,-22.1206,loss_of_function,-5.93211320086207,0.24098367375139976,0.9430122606353272,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144Q,NP_000240:p.Gly144Gln,,,,,saturation,,3.17442,0.95238,0.5060133631924391,Uncertain,Uncertain,False,0.003,,,-0.05068,,,-0.05457,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4108,0.3881,-22.1206,loss_of_function,-5.93211320086207,0.24098367375139976,0.9677461177389476,Pathogenic,0.9822,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144R,NP_000240:p.Gly144Arg,,,,,saturation,,3.653,1.33435,-0.0975486691524379,Uncertain,Uncertain,False,0.003,,,0.16368,,,-0.22191,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.3561,0.3881,-8.8328,loss_of_function,-4.31817029968996,0.4402264902919084,0.8918702559731614,Pathogenic,0.986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144S,NP_000240:p.Gly144Ser,,,,,"saturation,clinvar",,2.13827,0.83129,0.9413798548250376,Uncertain,Uncertain,False,0.003,,,-0.11882,,,-0.10453,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2827107,Uncertain significance,1,88.68,-,-0.2773,0.3881,-7.2479,loss_of_function,-2.51353772718801,0.663010131711258,0.4329855874921821,Uncertain,0.5062,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144T,NP_000240:p.Gly144Thr,,,,,saturation,,4.73781,1.53061,0.9550288240196207,Uncertain,Uncertain,False,0.003,,,0.03725,,,0.02693,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.4302,0.3881,-22.1206,loss_of_function,-3.31633302711323,0.5639042732906037,0.9013292928232324,Pathogenic,0.9238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144V,NP_000240:p.Gly144Val,,,,,saturation,,5.40718,2.51905,0.4057843684157713,Uncertain,Uncertain,False,0.003,,,0.11682,,,0.04175,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.3663,0.3881,-8.8328,loss_of_function,-5.18475267687183,0.3332460553157439,0.8003032415544487,Pathogenic,0.9393,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144W,NP_000240:p.Gly144Trp,,,,,saturation,,2.75414,0.27007,-1.0932438109944014,Uncertain,Uncertain,False,0.003,,,0.09908,,,-0.67737,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.445,0.3881,-22.1206,loss_of_function,-5.60169456892224,0.28177417434305174,0.9779019969268972,Pathogenic,0.9857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G144Y,NP_000240:p.Gly144Tyr,,,,,saturation,,5.52256,-0.00782,-0.672578103795714,Uncertain,Uncertain,False,0.003,,,-0.11898,,,-0.06056,Neutral,Uncertain,Uncertain,56.9,,False,56.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.68,-,-0.3778,0.3881,-8.8328,loss_of_function,-5.60169456892224,0.28177417434305174,0.9677250659052052,Pathogenic,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145A,NP_000240:p.Asn145Ala,,,,,saturation,,0.18941,0.63469,0.1729399453102564,Neutral,Neutral,False,0.002,,,-0.05949,,,-0.1752,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,92.86,-,-0.2061,1.3281,-22.1174,loss_of_function,-3.28716843070896,0.5675046710039515,0.8268758940274932,Pathogenic,0.4727,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145C,NP_000240:p.Asn145Cys,,,,,saturation,,0.37183,0.57449,0.8456785779742056,Neutral,Neutral,False,0.002,,,0.01687,,,0.08149,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,92.86,-,-0.256,1.3281,-22.1174,loss_of_function,-3.62318233030602,0.5260234291930687,0.9626149095282752,Pathogenic,0.3073,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145D,NP_000240:p.Asn145Asp,,,,,"saturation,clinvar",,-0.48065,-0.32551,0.0701837782734104,Neutral,Neutral,False,0.002,,,0.00974,,,-0.05172,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1739838,Uncertain significance,2,92.86,-,-0.2093,1.3281,-22.1174,loss_of_function,-2.98958024364156,0.6042422213332922,0.8990843212608618,Pathogenic,0.885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145E,NP_000240:p.Asn145Glu,,,,,saturation,,-0.09511,0.21429,0.0824246090609565,Neutral,Neutral,False,0.002,,,-0.13082,,,-0.11965,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.1686,1.3281,-8.8296,loss_of_function,-2.44040015568127,0.6720390358511461,0.7238921152385132,Pathogenic,0.9528,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145F,NP_000240:p.Asn145Phe,,,,,saturation,,0.10512,-0.33605,-0.0257473964166937,Neutral,Neutral,False,0.002,,,-0.28225,,,-0.48934,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.2632,1.3281,-22.1174,loss_of_function,-4.79959846889731,0.3807937158578493,0.979062446232654,Pathogenic,0.6948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145G,NP_000240:p.Asn145Gly,,,,,saturation,,-0.07121,0.42449,0.717936415598715,Neutral,Neutral,False,0.002,,,-0.03877,,,-0.12899,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,92.86,-,-0.2369,1.3281,-22.1174,loss_of_function,-4.37561723300981,0.43313461065481024,0.9023035927625744,Pathogenic,0.5228,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145H,NP_000240:p.Asn145His,,,,,saturation,,0.40857,-0.06361,-0.1382962847881219,Neutral,Neutral,False,0.002,,,-0.093,,,-0.21479,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.211,1.3281,-22.1174,loss_of_function,-4.79959846889731,0.3807937158578493,0.9349636638143758,Pathogenic,0.3374,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145I,NP_000240:p.Asn145Ile,,,,,saturation,,0.41903,-0.00068,0.0662563620531109,Neutral,Neutral,False,0.002,,,-0.95896,,,-0.13201,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.2563,1.3281,-22.1174,loss_of_function,-2.87498306562337,0.6183893541093999,0.8407843939795174,Pathogenic,0.1687,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145K,NP_000240:p.Asn145Lys,,,,,saturation,,0.08199,0.1966,0.0871049220536923,Neutral,Neutral,False,0.002,,,-0.25548,,,-0.13341,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.1178,1.3281,-4.1859,loss_of_function,-1.48192624743771,0.7903635694640431,0.195778013933883,Benign,0.832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145L,NP_000240:p.Asn145Leu,,,,,saturation,,0.31676,0.2483,-0.3016212350650643,Neutral,Neutral,False,0.002,,,-1.22392,,,-0.6707,Uncertain,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.195,1.3281,-8.8296,loss_of_function,-2.06667854170122,0.7181753315759657,0.6845229180999,Pathogenic,0.2587,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145M,NP_000240:p.Asn145Met,,,,,saturation,,0.17127,0.82075,0.0138113034468129,Neutral,Neutral,False,0.002,,,-2.05085,,,-0.41119,Uncertain,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.2169,1.3281,-22.1174,loss_of_function,-3.25674045773036,0.5712610337807709,0.8901634824727374,Pathogenic,0.3801,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145P,NP_000240:p.Asn145Pro,,,,,saturation,,-0.32007,-0.19966,1.2583619028886872,Neutral,Neutral,False,0.002,,,-0.1615,,,0.20056,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.86,-,-0.3717,1.3281,-22.1174,loss_of_function,-3.52922356922185,0.5376227293811182,0.7527906478809587,Pathogenic,0.8266,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145Q,NP_000240:p.Asn145Gln,,,,,saturation,,0.00488,0.1551,0.2834812331165182,Neutral,Neutral,False,0.002,,,-0.25204,,,-0.30009,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.1322,1.3281,-8.8296,loss_of_function,-2.19916256583868,0.7018200502976764,0.8845424396054151,Pathogenic,0.6903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145R,NP_000240:p.Asn145Arg,,,,,saturation,,0.32367,0.68265,-0.0383318877198957,Neutral,Neutral,False,0.002,,,-0.09733,,,-0.31643,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.1426,1.3281,-2.7423,loss_of_function,-2.04325009739414,0.7210675957493234,0.1084756545873037,Benign,0.775,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145S,NP_000240:p.Asn145Ser,"hg38,3:g.37007044A>G",,,0.524,"COSMIC,saturation,clinvar",,-0.01005,-0.09184,0.2422165660230579,Neutral,Neutral,False,0.002,,,-0.02463,,,0.20544,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,455437,Uncertain significance,2,92.86,-,-0.1031,1.3281,-7.8297,loss_of_function,-2.77370641120733,0.6308920553270185,0.5618957873495581,Uncertain,0.1418,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145T,NP_000240:p.Asn145Thr,,,,,saturation,,0.44752,-0.08776,0.2533639756809208,Neutral,Neutral,False,0.002,,,-0.06167,,,-0.11621,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.86,-,-0.1395,1.3281,-5.2448,loss_of_function,-2.12319966469537,0.7111977441215344,0.1727567949050269,Benign,0.2072,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145V,NP_000240:p.Asn145Val,,,,,saturation,,0.60237,-0.01497,0.1352314327495996,Neutral,Neutral,False,0.002,,,0.00564,,,-0.23627,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.1642,1.3281,-5.3703,loss_of_function,-1.95966514089788,0.731386239699265,0.0887402061366837,Benign,0.1467,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145W,NP_000240:p.Asn145Trp,,,,,saturation,,0.52566,0.77823,-0.2964679501275458,Neutral,Neutral,False,0.002,,,-0.45268,,,-0.73872,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.2683,1.3281,-22.1174,loss_of_function,-4.79959846889731,0.3807937158578493,0.983291213292906,Pathogenic,0.9393,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N145Y,NP_000240:p.Asn145Tyr,,,,,saturation,,0.30016,0.03605,-0.0237166302185015,Neutral,Neutral,False,0.002,,,-0.25875,,,-0.41725,Neutral,Uncertain,Uncertain,109.8,,False,109.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,-,-0.2468,1.3281,-22.1174,loss_of_function,-4.79959846889731,0.3807937158578493,0.9763048972958204,Pathogenic,0.3588,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146A,NP_000240:p.Gln146Ala,,,,,saturation,,0.13117,0.89388,0.7525162505380223,Neutral,Neutral,False,0.002,,,-0.00292,,,0.00902,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0179,2.321,-8.8264,loss_of_function,-2.6970629468083,0.6403537653448852,0.3972467049110157,Uncertain,0.1829,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146C,NP_000240:p.Gln146Cys,,,,,saturation,,0.2496,0.9619,1.4298919346667285,Neutral,Neutral,False,0.002,,,5e-05,,,-0.00794,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.1319,2.321,-22.1143,loss_of_function,-3.38887051309271,0.5549494502910891,0.5475945053718472,Uncertain,0.5736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146D,NP_000240:p.Gln146Asp,,,,,saturation,,0.72461,1.02007,0.834424011982785,Neutral,Neutral,False,0.002,,,-0.0643,,,-0.01831,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0729,2.321,-2.6566,loss_of_function,-1.54569666436265,0.7824910496426417,0.0497878888136167,Benign,0.5131,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146E,NP_000240:p.Gln146Glu,,,,,saturation,,0.01754,1.01973,0.595041995541814,Neutral,Neutral,False,0.002,,,-0.0037,,,-0.0155,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0908,2.321,-22.1143,loss_of_function,-1.79173251470684,0.7521176852832739,0.3147532490835518,Benign,0.1355,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146F,NP_000240:p.Gln146Phe,,,,,saturation,,-0.98436,0.49354,0.0936770765637345,Neutral,Neutral,False,0.002,,,-0.0643,,,0.00133,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.0721,2.321,-8.8264,loss_of_function,-3.15881107434031,0.5833505111436557,0.4466313807028103,Uncertain,0.738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146G,NP_000240:p.Gln146Gly,,,,,saturation,,0.93138,2.11224,1.4271707735204668,Uncertain,Neutral,False,0.002,,,0.00157,,,-0.01216,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0709,2.321,-5.3671,loss_of_function,-2.43344848883097,0.672897225866356,0.1348654285284049,Benign,0.2825,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146H,NP_000240:p.Gln146His,,,,,"saturation,clinvar",,0.20133,0.98571,0.4623171168508394,Neutral,Neutral,False,0.002,,,-0.12783,,,0.15304,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2773560,Uncertain significance,1,94.78,S,-0.0868,2.321,-22.1143,loss_of_function,-3.20646124314442,0.5774680515880749,0.4469624576656469,Uncertain,0.3271,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146I,NP_000240:p.Gln146Ile,,,,,saturation,,-0.38273,-0.07687,0.1530265140939246,Neutral,Neutral,False,0.002,,,-0.00775,,,-0.02421,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.0454,2.321,-7.2415,loss_of_function,-1.74071450223709,0.7584159084059071,0.1064725151377304,Benign,0.2321,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146K,NP_000240:p.Gln146Lys,,,,,saturation,,-0.34352,0.71293,0.6941892069621111,Neutral,Neutral,False,0.002,,,-0.0309,,,0.00336,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.0268,2.321,-4.0717,loss_of_function,-1.11459177761779,0.8357113660472945,0.0019461813964761,Benign,0.1022,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146L,NP_000240:p.Gln146Leu,,,,,saturation,,-0.72961,0.49796,-0.2029785202464951,Neutral,Neutral,False,0.002,,,-0.00099,,,0.00297,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.0368,2.321,-8.8264,loss_of_function,-2.54543459041943,0.6590724330080263,0.3074929748070002,Benign,0.1315,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146M,NP_000240:p.Gln146Met,,,,,saturation,,-0.86977,0.58673,0.2580364847781868,Neutral,Neutral,False,0.002,,,-0.00056,,,0.01691,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.0027,2.321,-7.8265,loss_of_function,-2.58569591619843,0.6541021332904605,0.4732321027194111,Uncertain,0.3274,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146N,NP_000240:p.Gln146Asn,,,,,saturation,,0.78087,1.2034,0.8507742010064775,Neutral,Neutral,False,0.002,,,4e-05,,,-0.0014,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0062,2.321,-3.469,loss_of_function,-1.16988036248773,0.8288859366197567,0.0078222165318191,Benign,0.2772,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146P,NP_000240:p.Gln146Pro,,,,,saturation,,-0.76046,0.53163,1.5240985416712518,Neutral,Neutral,False,0.002,,,-0.00108,,,-0.00861,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.1706,2.321,-4.7391,loss_of_function,-2.06427187820585,0.7184724365187333,0.135483237590318,Benign,0.1141,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146R,NP_000240:p.Gln146Arg,,,,,"saturation,clinvar",,-0.43499,0.69796,0.445744972092727,Neutral,Neutral,False,0.002,,,-0.05117,,,-0.0059,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,628321,Uncertain significance,2,94.78,S,-0.0343,2.321,-5.8265,loss_of_function,-1.12587465134956,0.8343184843416552,0.0126905070525725,Benign,0.1061,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146S,NP_000240:p.Gln146Ser,,,,,saturation,,0.78771,1.46803,0.9991015935759098,Neutral,Neutral,False,0.002,,,0.00437,,,0.02677,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.1041,2.321,-22.1143,loss_of_function,-3.38887051309271,0.5549494502910891,0.5029561002958718,Uncertain,0.2717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146T,NP_000240:p.Gln146Thr,,,,,saturation,,0.44816,0.56565,0.7671126249454047,Neutral,Neutral,False,0.002,,,-0.00239,,,0.08664,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.78,S,-0.0268,2.321,-5.0192,loss_of_function,-2.05718754405462,0.7193470044409194,0.0297926410473226,Benign,0.1671,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146V,NP_000240:p.Gln146Val,,,,,saturation,,-0.07351,-0.3017,0.274246043558457,Neutral,Neutral,False,0.002,,,-0.0076,,,-0.01146,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.78,S,-0.0341,2.321,-5.0192,loss_of_function,-1.63262704909773,0.7717594093318297,0.002544764993671,Benign,0.1535,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146W,NP_000240:p.Gln146Trp,,,,,saturation,,0.01646,1.26122,-0.0447690827527264,Neutral,Neutral,False,0.002,,,-0.08667,,,0.06035,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.1393,2.321,-22.1143,loss_of_function,-3.7806924738235,0.5065786492040549,0.874916480759867,Pathogenic,0.713,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q146Y,NP_000240:p.Gln146Tyr,,,,,saturation,,-0.39366,0.41429,0.2215973208819283,Neutral,Neutral,False,0.002,,,-0.01082,,,-0.00135,Neutral,Uncertain,Uncertain,37.9,,False,37.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.78,S,-0.1422,2.321,-22.1143,loss_of_function,-3.7806924738235,0.5065786492040549,0.7396469795024501,Pathogenic,0.6178,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147A,NP_000240:p.Gly147Ala,,,,,"saturation,clinvar",,7.68444,4.55646,1.7296119786814703,Destabilizing,Uncertain,False,0.006,,,0.0024,,,0.001,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,405410,Uncertain significance,1,96.19,E,-0.3792,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9938312544655294,Pathogenic,0.953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147C,NP_000240:p.Gly147Cys,,,,,saturation,,11.02342,3.14592,2.565500357501928,Destabilizing,Uncertain,False,0.006,,,-0.00232,,,-0.01056,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.439,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.99424870716866,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147D,NP_000240:p.Gly147Asp,,,,,saturation,,18.9527,5.02313,2.647418241262012,Destabilizing,Uncertain,False,0.006,,,0.18701,,,0.00297,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4395,0.041,-22.1111,loss_of_function,-6.9747586667802,0.11226807970414425,0.9951233723176848,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147E,NP_000240:p.Gly147Glu,"hg19,3:g.37048541G>A, hg38,3:g.37007050G>A",,,0.928,"cBioPortal,COSMIC,saturation,clinvar",,21.19538,4.25748,3.002046823613421,Destabilizing,Destabilizing,False,0.006,,,0.20989,,,0.79014,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,574220,Likely pathogenic,3,96.19,E,-0.4388,0.041,-22.1111,loss_of_function,-6.9747586667802,0.11226807970414425,0.9951085582599808,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147F,NP_000240:p.Gly147Phe,,,,,saturation,,18.93722,17.79932,2.042955449387172,Destabilizing,Uncertain,False,0.006,,,0.14617,,,0.24791,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4771,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9946276670600024,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147H,NP_000240:p.Gly147His,,,,,saturation,,20.55446,3.81803,1.9791727428283727,Destabilizing,Uncertain,False,0.006,,,0.00558,,,0.59621,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4518,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9941575719453004,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147I,NP_000240:p.Gly147Ile,,,,,saturation,,25.63614,24.52143,3.886427354034137,Destabilizing,Destabilizing,False,0.006,,,0.04798,,,0.23158,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.5228,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9944358583601094,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147K,NP_000240:p.Gly147Lys,,,,,saturation,,16.68258,4.18537,2.954627102933445,Destabilizing,Uncertain,False,0.006,,,-0.14616,,,0.38471,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4717,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.994609375732754,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147L,NP_000240:p.Gly147Leu,,,,,saturation,,21.25946,4.28435,2.443875840642894,Destabilizing,Uncertain,False,0.006,,,0.04158,,,0.35989,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.491,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9941871369857548,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147M,NP_000240:p.Gly147Met,,,,,saturation,,14.55258,3.48265,2.1525413137939884,Destabilizing,Uncertain,False,0.006,,,0.01136,,,0.67061,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4292,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9947461793150514,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147N,NP_000240:p.Gly147Asn,,,,,saturation,,16.59184,4.23878,1.9599434692563087,Destabilizing,Uncertain,False,0.006,,,0.09071,,,0.36477,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4398,0.041,-22.1111,loss_of_function,-6.9747586667802,0.11226807970414425,0.9949810107759453,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147P,NP_000240:p.Gly147Pro,,,,,saturation,,15.67518,29.11667,8.102127612830419,Destabilizing,Destabilizing,False,0.006,,,0.00013,,,0.17741,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.5369,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9950915599438668,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147Q,NP_000240:p.Gly147Gln,,,,,saturation,,18.86054,3.63299,2.582421008388603,Destabilizing,Uncertain,False,0.006,,,0.06193,,,0.67481,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.3698,0.041,-7.8233,loss_of_function,-4.51671776294815,0.4157156133781059,0.9964206731090328,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147R,NP_000240:p.Gly147Arg,,,,,"saturation,clinvar",,16.76032,3.91769,2.2129107780185087,Destabilizing,Uncertain,False,0.006,,,-0.03135,,,-0.03079,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,90218,Conflicting classifications of pathogenicity,1,96.19,E,-0.4558,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9940710818252736,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147S,NP_000240:p.Gly147Ser,,,,,saturation,,10.04136,5.37857,2.1958919060353,Destabilizing,Uncertain,False,0.006,,,-0.00039,,,-0.01921,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.3851,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9961559731098444,Pathogenic,0.97,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147T,NP_000240:p.Gly147Thr,,,,,saturation,,19.1855,18.84796,3.069358028787307,Destabilizing,Destabilizing,False,0.006,,,-0.00165,,,-0.00858,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.462,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9922772498953548,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147V,NP_000240:p.Gly147Val,,,,,"saturation,clinvar",,20.89004,15.65204,3.610064280203168,Destabilizing,Destabilizing,False,0.006,,,0.00053,,,-0.0635,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,976473,Uncertain significance,1,96.19,E,-0.466,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.994899989318532,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147W,NP_000240:p.Gly147Trp,,,,,"COSMIC,saturation",,23.77138,18.16803,1.8180187377056567,Destabilizing,Uncertain,False,0.006,,,0.27029,,,0.27775,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4769,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9926410521229748,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G147Y,NP_000240:p.Gly147Tyr,,,,,saturation,,19.64836,17.46259,2.385251554457579,Destabilizing,Uncertain,False,0.006,,,0.32281,,,0.37069,Neutral,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.19,E,-0.4775,0.041,-22.1111,loss_of_function,-7.38137704706204,0.0620706462722326,0.9942477144170307,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148A,NP_000240:p.Thr148Ala,,,,,saturation,,1.55836,0.27177,1.2553765340329566,Neutral,Neutral,False,0.014,,,-0.00142,,,0.02529,Neutral,,,8.5,,False,8.5,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.44,E,-0.3168,0.0576,-22.1111,loss_of_function,-4.43808535126189,0.4254228608676951,0.9687116248924474,Pathogenic,0.9306,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148C,NP_000240:p.Thr148Cys,,,,,saturation,,0.8087,0.49932,1.1985102561645893,Neutral,Neutral,False,0.014,,,-0.00172,,,0.01849,Neutral,,,8.5,,False,8.5,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.44,E,-0.3527,0.0576,-22.1111,loss_of_function,-4.43808535126189,0.4254228608676951,0.9499923279221398,Pathogenic,0.9585,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148D,NP_000240:p.Thr148Asp,,,,,saturation,,5.93044,3.78946,2.362994528663094,Destabilizing,Uncertain,False,0.014,,,0.0111,,,0.01903,Neutral,,,8.5,,False,8.5,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.44,E,-0.4324,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9922682730021128,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148E,NP_000240:p.Thr148Glu,,,,,saturation,,5.88644,3.79082,2.014121235599615,Destabilizing,Uncertain,False,0.014,,,0.00036,,,-0.00548,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4077,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9924484865923312,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148F,NP_000240:p.Thr148Phe,,,,,saturation,,6.74318,4.54932,0.5303605650874593,Destabilizing,Uncertain,False,0.014,,,0.00356,,,-0.01862,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4241,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9926516372835632,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148G,NP_000240:p.Thr148Gly,,,,,saturation,,3.13818,2.24286,2.914891845788777,Uncertain,Uncertain,False,0.014,,,-0.00348,,,0.01063,Neutral,,,8.5,,False,8.5,,uncertain,,,DOWN,neutral,neutral,damaging,,,,97.44,E,-0.3903,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9939594039837688,Pathogenic,0.9642,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148H,NP_000240:p.Thr148His,,,,,saturation,,9.51621,3.98741,1.1884343914421236,Destabilizing,Uncertain,False,0.014,,,-0.00063,,,-0.01238,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4044,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9948924355616098,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148I,NP_000240:p.Thr148Ile,"hg19,3:g.37048544C>T, hg38,3:g.37007053C>T",,,0.866,"cBioPortal,COSMIC,saturation",,1.09853,2.63844,-0.6706971298612446,Uncertain,Neutral,False,0.014,,,0.00322,,,-0.00589,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.3427,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9961234441677218,Pathogenic,0.9886,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148K,NP_000240:p.Thr148Lys,,,,,saturation,,3.22003,5.80306,1.7044129846645502,Destabilizing,Uncertain,False,0.014,,,0.00361,,,0.02331,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9933417257802004,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148L,NP_000240:p.Thr148Leu,,,,,saturation,,-0.09519,0.85476,-0.3396492727912853,Neutral,Neutral,False,0.014,,,0.00092,,,0.00592,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.3947,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9899299371747788,Pathogenic,0.9541,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148M,NP_000240:p.Thr148Met,,,,,saturation,,-0.28597,2.18231,0.3962756320042954,Uncertain,Neutral,False,0.014,,,0.0022,,,-0.00058,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.3616,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9948350156290692,Pathogenic,0.9112,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148N,NP_000240:p.Thr148Asn,,,,,saturation,,3.43094,2.18878,1.369857730111704,Uncertain,Uncertain,False,0.014,,,-0.00094,,,0.00725,Neutral,,,8.5,,False,8.5,,uncertain,,,-,uncertain,uncertain,damaging,,,,97.44,E,-0.3725,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9950930328324308,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148P,NP_000240:p.Thr148Pro,"hg38,3:g.37007052A>C",,,0.929,"COSMIC,saturation,clinvar",,5.44204,3.72381,3.4020956297350984,Destabilizing,Destabilizing,False,0.014,,,0.00187,,,0.03965,Neutral,,,8.5,,False,8.5,,uncertain,,,-,uncertain,uncertain,damaging,1740480,Uncertain significance,1,97.44,E,-0.4811,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9937584492939224,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148Q,NP_000240:p.Thr148Gln,,,,,saturation,,2.69273,1.46156,1.2923024954051157,Uncertain,Uncertain,False,0.014,,,0.00157,,,-0.0226,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.3819,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9960982676960136,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148R,NP_000240:p.Thr148Arg,,,,,saturation,,4.06287,5.84558,0.94316398475442,Destabilizing,Uncertain,False,0.014,,,0.00437,,,-0.00033,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4028,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.992673548610512,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148S,NP_000240:p.Thr148Ser,,,,,saturation,,2.36733,1.46633,1.5628896694316463,Uncertain,Uncertain,False,0.014,,,-0.00491,,,0.00348,Neutral,,,8.5,,False,8.5,,neutral,,,DOWN,neutral,neutral,damaging,,,,97.44,E,-0.2047,0.0576,-7.2384,loss_of_function,-0.993751218812819,0.8506292502370919,0.8471531053454888,Pathogenic,0.6916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148V,NP_000240:p.Thr148Val,,,,,saturation,,-1.36904,-0.73265,-0.5896385713928493,Neutral,Neutral,False,0.014,,,0.0013,,,0.00197,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.3303,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9863915314483134,Pathogenic,0.9538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148W,NP_000240:p.Thr148Trp,,,,,saturation,,14.23239,2.22007,0.730979994048749,Uncertain,Uncertain,False,0.014,,,-0.00078,,,-0.00566,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.417,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9944270932957427,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T148Y,NP_000240:p.Thr148Tyr,,,,,saturation,,13.1468,2.75714,1.0057486349175582,Uncertain,Uncertain,False,0.014,,,0.00589,,,-0.02776,Neutral,,,8.5,,False,8.5,,uncertain,,,UP,neutral,neutral,damaging,,,,97.44,E,-0.4255,0.0576,-22.1111,loss_of_function,-7.38215761677139,0.06197428418452547,0.9931708025822265,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149A,NP_000240:p.Gln149Ala,,,,,saturation,,0.71714,0.37211,0.6052420815628251,Neutral,Neutral,False,0.021,,,-0.09684,,,0.02062,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.0772,1.6756,-8.8232,loss_of_function,-2.46904740497415,0.6685025051404831,0.7534414151344988,Pathogenic,0.1773,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149C,NP_000240:p.Gln149Cys,,,,,saturation,,0.22398,0.27653,1.1200266625005566,Neutral,Neutral,False,0.021,,,-0.10653,,,0.00548,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.1913,1.6756,-22.1111,loss_of_function,-2.07486432401622,0.7171647888096487,0.8600423511485454,Pathogenic,0.4677,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149D,NP_000240:p.Gln149Asp,,,,,saturation,,1.78884,1.43844,1.0310229952180572,Neutral,Neutral,False,0.021,,,0.07586,,,0.06378,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.2316,1.6756,-22.1111,loss_of_function,-2.95936308411173,0.6079725589853893,0.8842103438646003,Pathogenic,0.9062,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149E,NP_000240:p.Gln149Glu,,,,,saturation,,0.8922,0.63537,0.5129235313380248,Neutral,Neutral,False,0.021,,,0.14281,,,0.0895,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.1502,1.6756,-22.1111,loss_of_function,-2.95936308411173,0.6079725589853893,0.8848000168055061,Pathogenic,0.2594,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149F,NP_000240:p.Gln149Phe,,,,,saturation,,1.54859,-0.53435,-0.1431799702073422,Neutral,Neutral,False,0.021,,,-0.04004,,,0.22799,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.1993,1.6756,-22.1111,loss_of_function,-4.55964543033252,0.410416151203227,0.9521863688501724,Pathogenic,0.6252,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149G,NP_000240:p.Gln149Gly,,,,,saturation,,1.76129,1.94082,2.042761657308698,Neutral,Uncertain,False,0.021,,,-0.14025,,,-0.0065,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.2157,1.6756,-22.1111,loss_of_function,-4.83078294317581,0.3769439622618138,0.984481165685664,Pathogenic,0.4471,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149H,NP_000240:p.Gln149His,,,,,"saturation,clinvar",,0.80252,0.18844,0.3416890899710267,Neutral,Neutral,False,0.021,,,-0.0312,,,0.08332,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"1740901, 90220","Uncertain significance, Uncertain significance","2, 2",97.4,E,-0.0783,1.6756,-8.8232,loss_of_function,-2.37499161708878,0.6801137833812487,0.9098644404426072,Pathogenic,0.3677,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149I,NP_000240:p.Gln149Ile,,,,,saturation,,-1.48792,-0.49354,-0.5058128783871979,Neutral,Neutral,False,0.021,,,-0.11401,,,0.36294,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.0889,1.6756,-4.1229,loss_of_function,-1.75404736814908,0.7567699531772973,0.0464867303836761,Benign,0.1197,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149K,NP_000240:p.Gln149Lys,,,,,saturation,,-0.20503,0.04388,0.5318861723935011,Neutral,Neutral,False,0.021,,,-0.25249,,,-0.23961,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.1782,1.6756,-22.1111,loss_of_function,-3.73108589619487,0.5127026293265771,0.8090465731581983,Pathogenic,0.4184,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149L,NP_000240:p.Gln149Leu,,,,,saturation,,-1.38489,-1.47653,-0.604670076208419,Neutral,Neutral,False,0.021,,,-0.05497,,,0.01881,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.0707,1.6756,-3.8234,loss_of_function,-0.498266175741696,0.9117973593836362,0.0972867385579423,Benign,0.0572,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149M,NP_000240:p.Gln149Met,,,,,saturation,,-1.42805,-0.02687,-0.0482922739848645,Neutral,Neutral,False,0.021,,,-0.07199,,,0.03603,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.0591,1.6756,-7.2384,loss_of_function,-2.3106732971188,0.6880539423649809,0.5459329988797275,Uncertain,0.1226,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149N,NP_000240:p.Gln149Asn,,,,,saturation,,0.04678,0.12415,0.7493207958976685,Neutral,Neutral,False,0.021,,,-0.10216,,,-0.00325,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.1607,1.6756,-22.1111,loss_of_function,-2.50022203669743,0.664653966617436,0.8574465556859716,Pathogenic,0.4138,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149P,NP_000240:p.Gln149Pro,,,,,saturation,,2.99654,4.71054,2.8588556768265625,Uncertain,Uncertain,False,0.021,,,-0.03722,,,0.00273,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.3187,1.6756,-22.1111,loss_of_function,-4.83078294317581,0.3769439622618138,0.9879659857900688,Pathogenic,0.9558,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149R,NP_000240:p.Gln149Arg,,,,,saturation,,0.20081,-0.62075,0.0201525738420521,Neutral,Neutral,False,0.021,,,-1.19242,,,-1.01606,Stabilizing,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.1768,1.6756,-22.1111,loss_of_function,-3.73151068263676,0.512650189028318,0.8944180769186303,Pathogenic,0.4153,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149S,NP_000240:p.Gln149Ser,,,,,saturation,,1.03026,0.79694,0.9566997783116749,Neutral,Neutral,False,0.021,,,-0.0277,,,0.03078,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.0854,1.6756,-6.8233,loss_of_function,-0.504435546260948,0.9110357446092565,0.6252476214994929,Uncertain,0.2314,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149T,NP_000240:p.Gln149Thr,,,,,saturation,,-0.27437,0.08912,0.4235864534190214,Neutral,Neutral,False,0.021,,,-0.05787,,,-0.00734,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,97.4,E,-0.0757,1.6756,-2.9654,loss_of_function,-1.86308566757937,0.7433090693545172,0.1111766891552046,Benign,0.1246,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149V,NP_000240:p.Gln149Val,,,,,saturation,,-0.44497,-0.38129,-0.337740364198193,Neutral,Neutral,False,0.021,,,-0.11739,,,-0.03274,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,97.4,E,-0.0884,1.6756,-4.016,loss_of_function,-1.78487187388517,0.7529646380469619,0.4932357634530001,Uncertain,0.0831,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149W,NP_000240:p.Gln149Trp,,,,,saturation,,2.31243,-0.49558,-0.4551668764087019,Uncertain,Uncertain,False,0.021,,,-0.13353,,,-0.23767,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.1987,1.6756,-22.1111,loss_of_function,-4.55964543033252,0.410416151203227,0.9835839258268212,Pathogenic,0.7704,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q149Y,NP_000240:p.Gln149Tyr,,,,,saturation,,1.10367,0.08605,0.0549860583082845,Neutral,Neutral,False,0.021,,,0.05793,,,-0.0098,Neutral,Uncertain,Uncertain,31.9,,True,31.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,97.4,E,-0.2016,1.6756,-22.1111,loss_of_function,-4.55964543033252,0.410416151203227,0.953823129396905,Pathogenic,0.6053,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150A,NP_000240:p.Ile150Ala,,,,,saturation,,4.45619,3.56361,2.994205531861611,Destabilizing,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.4084,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9823066714414284,Pathogenic,0.9729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150C,NP_000240:p.Ile150Cys,,,,,saturation,,3.3067,2.90986,2.905564584402,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.3883,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9915739923711596,Pathogenic,0.9717,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150D,NP_000240:p.Ile150Asp,,,,,saturation,,5.80124,3.88707,4.06380252945963,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.5324,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9919882949042286,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150E,NP_000240:p.Ile150Glu,,,,,saturation,,5.79496,3.25136,3.39344852542252,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.5133,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.991964555697102,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150F,NP_000240:p.Ile150Phe,,,,,saturation,,3.22772,0.01122,0.8786804828910657,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.91,E,-0.3693,0.1879,-22.1111,loss_of_function,-4.49884390959679,0.41792215791048726,0.8939684573603341,Pathogenic,0.6736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150G,NP_000240:p.Ile150Gly,,,,,saturation,,5.77352,5.68197,4.5078550521953,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.499,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9944223230361532,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150H,NP_000240:p.Ile150His,,,,,saturation,,3.93522,1.31531,2.429338822889352,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.4989,0.1879,-22.1111,loss_of_function,-5.36050272519485,0.31154954138729063,0.9916265437203542,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150K,NP_000240:p.Ile150Lys,,,,,saturation,,2.57011,4.08912,3.4778311461931835,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.91,E,-0.5058,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9908918569494828,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150L,NP_000240:p.Ile150Leu,,,,,"saturation,clinvar",,-0.06801,-0.16599,0.7378548035162205,Neutral,Neutral,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,485793,Uncertain significance,1,96.91,E,-0.2114,0.1879,-6.016,loss_of_function,-1.10615820233212,0.8367524990961793,0.4699601782839814,Uncertain,0.2999,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150M,NP_000240:p.Ile150Met,,,,,"saturation,clinvar",,0.43441,0.96224,1.5067979392122348,Neutral,Neutral,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1330085,Uncertain significance,1,96.91,E,-0.2992,0.1879,-22.1111,loss_of_function,-2.88957194993205,0.6165883421914851,0.8223003807907625,Pathogenic,0.2871,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150N,NP_000240:p.Ile150Asn,,,,,"saturation,clinvar",,3.71746,2.73027,2.887767662209019,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,185839,Uncertain significance,2,96.91,E,-0.4455,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9922514098863572,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150P,NP_000240:p.Ile150Pro,,,,,saturation,,4.00782,4.73367,5.904633687300835,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.5524,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9919386732117104,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150Q,NP_000240:p.Ile150Gln,,,,,saturation,,3.7987,2.67007,2.7005323114183644,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.473,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9929454840721844,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150R,NP_000240:p.Ile150Arg,,,,,saturation,,3.99041,4.11973,2.723018548387525,Destabilizing,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.91,E,-0.5326,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9912764022694583,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150S,NP_000240:p.Ile150Ser,,,,,saturation,,5.08456,3.80476,3.5722414947628502,Destabilizing,Destabilizing,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.4489,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9905128676143934,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150T,NP_000240:p.Ile150Thr,,,,,saturation,,3.22317,2.31429,2.5603777340299843,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.3657,0.1879,-22.1111,loss_of_function,-6.67813613123342,0.14888641941666256,0.9801268436644864,Pathogenic,0.9855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150V,NP_000240:p.Ile150Val,,,,,saturation,,1.18591,0.53061,0.943570501577129,Neutral,Neutral,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.91,E,-0.1757,0.1879,-6.8233,loss_of_function,-2.62242264614077,0.6495681828571955,0.5821899283253495,Uncertain,0.2027,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150W,NP_000240:p.Ile150Trp,,,,,saturation,,9.52036,2.88061,1.4374424252465503,Uncertain,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.91,E,-0.4582,0.1879,-22.1111,loss_of_function,-5.36050272519485,0.31154954138729063,0.9913015538905354,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I150Y,NP_000240:p.Ile150Tyr,,,,,saturation,,6.1611,3.32075,1.5286377377531986,Destabilizing,Uncertain,False,0.048,,,,,,,,,,6.2,,True,6.2,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.91,E,-0.4671,0.1879,-22.1111,loss_of_function,-5.36050272519485,0.31154954138729063,0.992389519633,Pathogenic,0.9777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151A,NP_000240:p.Thr151Ala,,,,,saturation,,1.32907,1.15238,0.361091885655882,Neutral,Neutral,False,0.092,,,0.19359,,,-0.09446,Neutral,,,18.7,,True,18.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,97.25,E,-0.057,1.969,-5.6566,loss_of_function,-0.422071261174354,0.9212036954897248,0.0907825483626711,Benign,0.068,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151C,NP_000240:p.Thr151Cys,,,,,saturation,,0.77588,1.08401,0.889441541020696,Neutral,Neutral,False,0.092,,,0.15615,,,0.05978,Neutral,,,18.7,,True,18.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,97.25,E,-0.0972,1.969,-6.5046,loss_of_function,-1.57369307103938,0.7790348660842059,0.2070933335648731,Benign,0.1898,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151D,NP_000240:p.Thr151Asp,,,,,saturation,,2.49821,1.05374,0.9280286144697388,Uncertain,Uncertain,False,0.092,,,0.3251,,,-0.00826,Neutral,,,18.7,,True,18.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.25,E,-0.1887,1.969,-8.8264,loss_of_function,-2.87479262974155,0.6184128636037176,0.6532662272507119,Uncertain,0.734,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151E,NP_000240:p.Thr151Glu,,,,,saturation,,1.08932,1.16837,0.4282223153064818,Neutral,Neutral,False,0.092,,,0.16398,,,-0.03183,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.2319,1.969,-22.1143,loss_of_function,-2.81540210862021,0.6257446810400287,0.6066644008968423,Uncertain,0.6061,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151F,NP_000240:p.Thr151Phe,,,,,saturation,,2.1286,-0.1119,-0.6152402504006388,Uncertain,Uncertain,False,0.092,,,0.26831,,,0.00873,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.2482,1.969,-22.1143,loss_of_function,-3.4766993198578,0.5441068989092777,0.7179161355580077,Pathogenic,0.2053,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151G,NP_000240:p.Thr151Gly,,,,,saturation,,2.44757,2.91667,1.5405422236300483,Uncertain,Uncertain,False,0.092,,,0.13188,,,0.03902,Neutral,,,18.7,,True,18.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,97.25,E,-0.2145,1.969,-22.1143,loss_of_function,-3.98451484280848,0.48141658006205895,0.8923629946835343,Pathogenic,0.2075,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151H,NP_000240:p.Thr151His,,,,,saturation,,3.68368,0.47959,-0.143040603348214,Uncertain,Uncertain,False,0.092,,,0.26275,,,0.06927,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.1505,1.969,-6.8265,loss_of_function,-2.55636242266298,0.6577233815184687,0.3486932507631328,Uncertain,0.3279,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151I,NP_000240:p.Thr151Ile,,,,,saturation,,-1.48662,-1.11769,-1.0525492307385886,Neutral,Neutral,False,0.092,,,0.30665,,,0.00496,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.0802,1.969,-5.1261,loss_of_function,-0.615075633382304,0.8973771185424132,0.0112142652756571,Benign,0.1072,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151K,NP_000240:p.Thr151Lys,"hg19,3:g.37048553C>A",,,0.583,"cBioPortal,saturation",,0.44231,0.29626,0.0932644262654913,Neutral,Neutral,False,0.092,,,0.07791,,,0.07717,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.1461,1.969,-6.8265,loss_of_function,-2.2945111006255,0.6900491811980695,0.223345068939531,Benign,0.5095,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151L,NP_000240:p.Thr151Leu,,,,,saturation,,-0.64416,-0.67959,-0.7596402569896404,Neutral,Neutral,False,0.092,,,0.37822,,,0.06121,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.1218,1.969,-3.0986,loss_of_function,-0.564197731396755,0.9036580448898761,0.0163045970578516,Benign,0.0609,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151M,NP_000240:p.Thr151Met,,,,,"COSMIC,saturation,clinvar",,-0.16241,0.75748,-0.2857331582652128,Neutral,Neutral,False,0.092,,,0.22842,,,0.07186,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,186027,Conflicting classifications of pathogenicity,1,97.25,E,-0.0959,1.969,-4.5046,loss_of_function,-0.208700934612294,0.9475444692553386,0.0893236847974327,Benign,0.0627,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151N,NP_000240:p.Thr151Asn,,,,,saturation,,1.20105,0.35544,0.4204098907933007,Neutral,Neutral,False,0.092,,,0.23545,,,0.03237,Neutral,,,18.7,,True,18.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.25,E,-0.1288,1.969,-8.8264,loss_of_function,-1.63432986467423,0.7715491950973209,0.2882959003236657,Benign,0.1633,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151P,NP_000240:p.Thr151Pro,,,,,saturation,,3.23166,3.54422,3.466196355593633,Destabilizing,Destabilizing,False,0.092,,,0.21795,,,-0.20642,Neutral,,,18.7,,True,18.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,97.25,E,-0.3053,1.969,-22.1143,loss_of_function,-3.98451484280848,0.48141658006205895,0.9285841397395054,Pathogenic,0.8104,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151Q,NP_000240:p.Thr151Gln,,,,,saturation,,0.76597,-0.13673,0.3429861885114121,Neutral,Neutral,False,0.092,,,0.24138,,,-0.01392,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.1239,1.969,-6.0192,loss_of_function,-0.791214987490616,0.8756325444371713,0.1323161909228054,Benign,0.3022,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151R,NP_000240:p.Thr151Arg,,,,,saturation,,-0.30632,-0.44558,-0.1906417149403738,Neutral,Neutral,False,0.092,,,0.00699,,,-0.16666,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.2269,1.969,-22.1143,loss_of_function,-2.8886351658459,0.6167039890955232,0.4377745685557515,Uncertain,0.419,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151S,NP_000240:p.Thr151Ser,,,,,saturation,,1.34453,1.34456,0.7051008128959796,Neutral,Neutral,False,0.092,,,-0.00363,,,-0.03619,Neutral,,,18.7,,True,18.7,,neutral,,,DOWN,neutral,neutral,neutral,,,,97.25,E,-0.0138,1.969,-4.303,loss_of_function,-0.118566285499867,0.9586716791114048,0.0208587625792209,Benign,0.0916,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151V,NP_000240:p.Thr151Val,,,,,saturation,,-0.86266,-0.60952,-0.9490236611793818,Neutral,Neutral,False,0.092,,,0.21793,,,-0.06794,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.0653,1.969,-4.6566,loss_of_function,-0.300505674692213,0.9362110850494857,0.0093845048584256,Benign,0.0902,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151W,NP_000240:p.Thr151Trp,,,,,saturation,,3.53926,-0.22313,-0.8466320745290629,Uncertain,Uncertain,False,0.092,,,0.03776,,,-0.13128,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.2411,1.969,-22.1143,loss_of_function,-3.4766993198578,0.5441068989092777,0.8587276597112476,Pathogenic,0.568,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T151Y,NP_000240:p.Thr151Tyr,,,,,saturation,,5.67366,0.08741,-0.5149663944610122,Uncertain,Uncertain,False,0.092,,,0.50121,,,-0.02174,Neutral,,,18.7,,True,18.7,,uncertain,,,UP,neutral,neutral,neutral,,,,97.25,E,-0.1819,1.969,-8.8264,loss_of_function,-3.4766993198578,0.5441068989092777,0.8122444570843288,Pathogenic,0.3242,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152A,NP_000240:p.Val152Ala,,,,,saturation,,3.99599,3.17619,2.50133630564456,Destabilizing,Uncertain,False,0.074,,,0.0,,,0.01281,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.1712,0.9142,-3.4879,loss_of_function,-1.28128210985121,0.8151332828572758,0.0203466533877121,Benign,0.3331,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152C,NP_000240:p.Val152Cys,,,,,saturation,,2.78553,2.74422,2.198559459846969,Uncertain,Uncertain,False,0.074,,,0.0,,,-0.00229,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.2942,0.9142,-22.1332,loss_of_function,-3.87187360617706,0.49532224997686886,0.821078744102177,Pathogenic,0.9132,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152D,NP_000240:p.Val152Asp,,,,,saturation,,5.91022,4.67007,3.687830955869323,Destabilizing,Destabilizing,False,0.074,,,0.00759,,,0.00831,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.4329,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9681056975795924,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152E,NP_000240:p.Val152Glu,,,,,"saturation,clinvar",,5.33815,5.28707,3.338892971581687,Destabilizing,Destabilizing,False,0.074,,,0.0,,,-0.18992,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,1741486,Uncertain significance,1,96.94,E,-0.3902,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9739882927364842,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152F,NP_000240:p.Val152Phe,,,,,saturation,,8.74728,3.33027,0.5614875358143923,Destabilizing,Uncertain,False,0.074,,,5e-05,,,0.03035,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.3435,0.9142,-22.1332,loss_of_function,-4.36049735118181,0.4350011747315086,0.9177687439399786,Pathogenic,0.9611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152G,NP_000240:p.Val152Gly,,,,,"saturation,clinvar",,5.82415,6.14626,4.640148884388487,Destabilizing,Destabilizing,False,0.074,,,0.0,,,0.02105,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,579404,Conflicting classifications of pathogenicity,1,96.94,E,-0.3921,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9743207279579448,Pathogenic,0.8575,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152H,NP_000240:p.Val152His,,,,,saturation,,6.35541,5.96701,1.6918863224794034,Destabilizing,Uncertain,False,0.074,,,0.00053,,,0.00348,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.4359,0.9142,-22.1332,loss_of_function,-4.96366386940801,0.3605396830349666,0.972797545243029,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152I,NP_000240:p.Val152Ile,,,,,saturation,,-0.5165,0.45476,0.1901752102028975,Neutral,Neutral,False,0.074,,,0.0,,,0.11739,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.1062,0.9142,-3.3861,loss_of_function,-1.4707281749533,0.7917459823734454,0.0386906327576483,Benign,0.1332,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152K,NP_000240:p.Val152Lys,,,,,saturation,,5.05141,8.05714,4.437116797141502,Destabilizing,Destabilizing,False,0.074,,,-0.00633,,,0.0089,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.4292,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9660563432183832,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152L,NP_000240:p.Val152Leu,"hg19,3:g.37050305G>T",,,0.732,"cBioPortal,saturation,clinvar",,1.26432,1.9,0.3618613470138643,Neutral,Neutral,False,0.074,,,0.0,,,0.01894,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,479705,Uncertain significance,1,96.94,E,-0.194,0.9142,-7.8454,loss_of_function,-0.635100776145287,0.8949049952455945,0.8204690543283909,Pathogenic,0.814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152M,NP_000240:p.Val152Met,"hg19,3:g.37050305G>A, hg38,3:g.37008814G>A",,7.9596921191e-06,0.855,"cBioPortal,COSMIC,saturation,clinvar",,0.93674,2.80952,0.9550810807724373,Uncertain,Neutral,False,0.074,,,0.0,,,0.00198,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,184683,Uncertain significance,2,96.94,E,-0.276,0.9142,-22.1332,loss_of_function,-2.80948667544595,0.626474947002871,0.7446445047627417,Pathogenic,0.7565,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152N,NP_000240:p.Val152Asn,,,,,saturation,,3.50802,3.7966,2.365387188508889,Destabilizing,Uncertain,False,0.074,,,0.0,,,0.0136,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.4208,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9572997532057934,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152P,NP_000240:p.Val152Pro,,,,,saturation,,5.78474,5.16156,6.199599167549647,Destabilizing,Destabilizing,False,0.074,,,0.0,,,-0.0071,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.4706,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9605713660466224,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152Q,NP_000240:p.Val152Gln,,,,,saturation,,3.69087,5.20612,2.3647375645659467,Destabilizing,Uncertain,False,0.074,,,0.0,,,0.01602,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,damaging,,,,96.94,E,-0.4008,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9629977277497532,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152R,NP_000240:p.Val152Arg,,,,,saturation,,8.27205,7.58231,3.207127716490689,Destabilizing,Destabilizing,False,0.074,,,-0.01215,,,0.00315,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.4502,0.9142,-22.1332,loss_of_function,-5.33602253480481,0.3145716446346963,0.9651360224110096,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152S,NP_000240:p.Val152Ser,,,,,saturation,,4.93148,3.83912,3.293523025477576,Destabilizing,Destabilizing,False,0.074,,,0.0,,,0.00562,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.37,0.9142,-22.1332,loss_of_function,-3.87187360617706,0.49532224997686886,0.8061326108058129,Pathogenic,0.8022,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152T,NP_000240:p.Val152Thr,,,,,saturation,,3.05984,2.34422,2.0235750727332205,Uncertain,Uncertain,False,0.074,,,0.0,,,0.00734,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,damaging,,,,96.94,E,-0.2853,0.9142,-22.1332,loss_of_function,-3.87187360617706,0.49532224997686886,0.9270007455010038,Pathogenic,0.6148,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152W,NP_000240:p.Val152Trp,,,,,saturation,,14.56848,9.66497,1.7308057485479027,Destabilizing,Uncertain,False,0.074,,,0.00074,,,-0.01191,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.384,0.9142,-22.1332,loss_of_function,-4.96366386940801,0.3605396830349666,0.9681444594271004,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V152Y,NP_000240:p.Val152Tyr,,,,,saturation,,9.75214,5.75578,1.5131481077085924,Destabilizing,Uncertain,False,0.074,,,0.00019,,,0.03181,Neutral,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,damaging,,,,96.94,E,-0.3869,0.9142,-22.1332,loss_of_function,-4.96366386940801,0.3605396830349666,0.9464524914239938,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153A,NP_000240:p.Glu153Ala,,,,,saturation,,0.70285,0.1517,0.4386392147011891,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.2369,0.1681,-8.8485,loss_of_function,-3.84907002790397,0.4981373738322622,0.9260287577142798,Pathogenic,0.6597,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153C,NP_000240:p.Glu153Cys,,,,,saturation,,0.14965,0.11701,0.6478117723170548,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.374,0.1681,-22.1363,loss_of_function,-5.43201303658449,0.30272152408716607,0.9863969147004102,Pathogenic,0.9751,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153D,NP_000240:p.Glu153Asp,"hg19,3:g.37050310G>C",,,0.668,"cBioPortal,saturation",,2.03113,1.00374,1.1077113505272047,Uncertain,Uncertain,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.2026,0.1681,-8.8485,loss_of_function,-2.8802729870251,0.6177363081815711,0.8385698986139216,Pathogenic,0.7451,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153F,NP_000240:p.Glu153Phe,,,,,saturation,,-1.02385,-1.42245,-0.6872991812474755,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3516,0.1681,-22.1363,loss_of_function,-6.18165997349827,0.21017688262977988,0.9934379271341264,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153G,NP_000240:p.Glu153Gly,,,,,"saturation,clinvar",,1.3676,1.50782,1.6562302659843082,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455438,Uncertain significance,2,96.23,E,-0.3304,0.1681,-22.1363,loss_of_function,-6.72532810031851,0.14306052506081057,0.9897842244659404,Pathogenic,0.7728,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153H,NP_000240:p.Glu153His,,,,,saturation,,1.00812,-0.4449,-0.0583245511135949,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.2751,0.1681,-8.8485,loss_of_function,-5.54720051294612,0.28850151840802024,0.9703814568817836,Pathogenic,0.9453,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153I,NP_000240:p.Glu153Ile,,,,,saturation,,-1.53943,-1.16156,-0.642423725661127,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.357,0.1681,-22.1363,loss_of_function,-6.49118298272536,0.17196596692903743,0.9926429050560084,Pathogenic,0.9394,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153K,NP_000240:p.Glu153Lys,,,,,"saturation,clinvar",,-0.86293,-0.39932,0.3425555506212868,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,505563,Uncertain significance,1,96.23,E,-0.2589,0.1681,-8.8485,loss_of_function,-4.23629570925868,0.4503339878922149,0.9442722194857388,Pathogenic,0.8047,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153L,NP_000240:p.Glu153Leu,,,,,saturation,,-1.48503,-0.85612,-0.7974600516657587,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3591,0.1681,-22.1363,loss_of_function,-6.36217401565609,0.18789224904174145,0.9817572702044616,Pathogenic,0.9405,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153M,NP_000240:p.Glu153Met,,,,,saturation,,-1.40482,-0.93129,-0.3637244977141612,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3079,0.1681,-22.1363,loss_of_function,-6.49118298272536,0.17196596692903743,0.9929416996528656,Pathogenic,0.9162,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153N,NP_000240:p.Glu153Asn,,,,,saturation,,-0.18328,0.2398,0.5697635703620374,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.3309,0.1681,-22.1363,loss_of_function,-3.46158588450853,0.5459726671619244,0.9672526880282588,Pathogenic,0.8683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153P,NP_000240:p.Glu153Pro,,,,,saturation,,3.09394,1.71054,4.263200222624861,Uncertain,Destabilizing,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.4616,0.1681,-22.1363,loss_of_function,-6.72532810031851,0.14306052506081057,0.9963669228686756,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153Q,NP_000240:p.Glu153Gln,,,,,saturation,,-0.39805,-0.02891,0.3191060168042481,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.2013,0.1681,-7.2636,loss_of_function,-2.66782544377344,0.6439631634524927,0.9018692708014192,Pathogenic,0.4626,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153R,NP_000240:p.Glu153Arg,,,,,saturation,,-0.59745,-0.27653,-0.2643833151891711,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3872,0.1681,-22.1363,loss_of_function,-4.38497132924999,0.43197983840126214,0.9674586832848318,Pathogenic,0.8656,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153S,NP_000240:p.Glu153Ser,,,,,saturation,,0.8124,0.49524,0.9799613297413292,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.2503,0.1681,-8.8485,loss_of_function,-3.97504711453217,0.4825853803006809,0.9487808218516484,Pathogenic,0.6916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153T,NP_000240:p.Glu153Thr,,,,,saturation,,0.1946,0.22517,0.328999524071995,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.23,E,-0.334,0.1681,-22.1363,loss_of_function,-4.36894890262323,0.43395782250876114,0.969294443391104,Pathogenic,0.7526,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153V,NP_000240:p.Glu153Val,,,,,saturation,,-0.91554,-1.08469,-0.4550735163827923,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.23,E,-0.3179,0.1681,-22.1363,loss_of_function,-6.49118298272536,0.17196596692903743,0.9857584391237508,Pathogenic,0.8241,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153W,NP_000240:p.Glu153Trp,,,,,saturation,,0.14489,-1.65952,-0.8361405406942413,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3617,0.1681,-22.1363,loss_of_function,-6.18165997349827,0.21017688262977988,0.995294816992756,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E153Y,NP_000240:p.Glu153Tyr,,,,,saturation,,-0.12313,-1.43537,-0.4356519428780586,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,52.7,,True,52.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.23,E,-0.3525,0.1681,-22.1363,loss_of_function,-6.18165997349827,0.21017688262977988,0.9904675324319168,Pathogenic,0.9813,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154A,NP_000240:p.Asp154Ala,,,,,saturation,,0.506,1.66973,0.8505566930809949,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.44,S,-0.298,0.545,-22.1395,loss_of_function,-5.19316863689027,0.332207096888684,0.9356864481599456,Pathogenic,0.9194,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154C,NP_000240:p.Asp154Cys,,,,,saturation,,0.46301,2.27347,1.3494762287845925,Uncertain,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.44,S,-0.3395,0.545,-22.1395,loss_of_function,-5.19316863689027,0.332207096888684,0.9900383126001988,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154E,NP_000240:p.Asp154Glu,,,,,"saturation,clinvar",,0.18068,0.81463,0.4183885986314151,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"852320, 639753","Uncertain significance, Uncertain significance","1, 2",93.44,S,-0.1752,0.545,-8.8516,loss_of_function,-2.45222504686487,0.6705792415653665,0.5019505964630792,Uncertain,0.8372,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154F,NP_000240:p.Asp154Phe,,,,,saturation,,0.45018,1.33129,0.5304932107245741,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3982,0.545,-22.1395,loss_of_function,-5.29818800738359,0.3192423537412008,0.9874999816192426,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154G,NP_000240:p.Asp154Gly,,,,,saturation,,1.10134,2.18537,1.0963272891011784,Uncertain,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.44,S,-0.3092,0.545,-22.1395,loss_of_function,-5.27466243441035,0.3221466085426028,0.953823129396905,Pathogenic,0.8636,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154H,NP_000240:p.Asp154His,,,,,saturation,,0.47646,1.22313,0.2487181198901866,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3074,0.545,-22.1395,loss_of_function,-4.47139098871538,0.4213112476203546,0.8644709770003705,Pathogenic,0.9417,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154I,NP_000240:p.Asp154Ile,,,,,saturation,,1.96505,4.49388,0.9139349598888282,Uncertain,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3904,0.545,-22.1395,loss_of_function,-5.87114179167144,0.2485106533531952,0.9873063680833178,Pathogenic,0.986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154K,NP_000240:p.Asp154Lys,,,,,saturation,,-0.66089,1.17789,0.640741952624741,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3688,0.545,-22.1395,loss_of_function,-4.63752242550717,0.4008021606146875,0.8831926259794318,Pathogenic,0.9859,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154L,NP_000240:p.Asp154Leu,,,,,saturation,,0.14297,1.41769,0.2281031059997046,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.384,0.545,-22.1395,loss_of_function,-5.87114179167144,0.2485106533531952,0.9881403746625396,Pathogenic,0.9739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154M,NP_000240:p.Asp154Met,,,,,saturation,,0.06407,1.3966,0.5172715934415653,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3228,0.545,-22.1395,loss_of_function,-5.87114179167144,0.2485106533531952,0.9645898503001192,Pathogenic,0.9862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154N,NP_000240:p.Asp154Asn,,,,,"saturation,clinvar",,-1.15963,0.3517,0.1950361049074223,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,955627,Uncertain significance,2,93.44,S,-0.168,0.545,-3.1793,loss_of_function,-1.63940973884967,0.770922079703306,0.0923818057174112,Benign,0.3186,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154P,NP_000240:p.Asp154Pro,,,,,saturation,,3.7904,6.25612,3.848726808136716,Destabilizing,Destabilizing,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.44,S,-0.435,0.545,-22.1395,loss_of_function,-5.87114179167144,0.2485106533531952,0.9880410091205842,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154Q,NP_000240:p.Asp154Gln,,,,,saturation,,-0.09663,1.21837,0.7047168280269974,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.2572,0.545,-8.8516,loss_of_function,-3.04376531226598,0.5975530220565832,0.8270754481360837,Pathogenic,0.966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154R,NP_000240:p.Asp154Arg,,,,,saturation,,-0.41564,1.52585,0.5519924508606935,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3998,0.545,-22.1395,loss_of_function,-4.67881444084172,0.39570462127180567,0.9251255659309864,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154S,NP_000240:p.Asp154Ser,,,,,saturation,,1.12663,2.08231,0.796930590070479,Uncertain,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.44,S,-0.3045,0.545,-22.1395,loss_of_function,-3.86863845290573,0.49572163278604503,0.8696335145130193,Pathogenic,0.7602,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154T,NP_000240:p.Asp154Thr,,,,,saturation,,2.79572,3.21361,0.910735801735183,Uncertain,Uncertain,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.44,S,-0.3345,0.545,-22.1395,loss_of_function,-5.19316863689027,0.332207096888684,0.962400402615134,Pathogenic,0.9562,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154V,NP_000240:p.Asp154Val,,,,,"saturation,clinvar",,1.74946,4.87959,0.8653340954951405,Uncertain,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,230752,Uncertain significance,1,93.44,S,-0.3451,0.545,-22.1395,loss_of_function,-5.87114179167144,0.2485106533531952,0.9898379467310644,Pathogenic,0.9542,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154W,NP_000240:p.Asp154Trp,,,,,saturation,,0.88733,1.70986,0.1427070871758667,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.3786,0.545,-22.1395,loss_of_function,-5.29818800738359,0.3192423537412008,0.9905046752503436,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D154Y,NP_000240:p.Asp154Tyr,,,,,saturation,,0.06595,1.21803,0.6228397855268621,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,29.9,,True,29.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.44,S,-0.343,0.545,-22.1395,loss_of_function,-5.29818800738359,0.3192423537412008,0.9901505549846894,Pathogenic,0.8621,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155A,NP_000240:p.Leu155Ala,,,,,saturation,,3.51431,3.7449,3.730083917880696,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.3934,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9807749262751484,Pathogenic,0.9537,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155C,NP_000240:p.Leu155Cys,,,,,saturation,,2.32084,3.45,3.760645557048104,Uncertain,Uncertain,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.3826,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9844048235031316,Pathogenic,0.9178,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155D,NP_000240:p.Leu155Asp,,,,,saturation,,4.40627,5.14048,4.982485485546586,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.5149,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9809509205047702,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155E,NP_000240:p.Leu155Glu,,,,,saturation,,4.49249,4.13537,4.242523958018974,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.483,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9796987101697016,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155F,NP_000240:p.Leu155Phe,"hg19,3:g.37050314C>T, hg38,3:g.37008823C>T",,,0.751,"cBioPortal,COSMIC,saturation,clinvar",,1.70399,2.37143,1.4520462430097998,Uncertain,Neutral,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1017893,Uncertain significance,2,92.84,T,-0.2489,0.2781,-6.8548,loss_of_function,-5.64388665528686,0.27656552035851356,0.8909778559919872,Pathogenic,0.7784,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155G,NP_000240:p.Leu155Gly,,,,,saturation,,4.87666,6.13197,5.813218623049703,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4683,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.980393975445046,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155H,NP_000240:p.Leu155His,,,,,saturation,,2.65111,3.33946,3.063119903261359,Uncertain,Uncertain,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4358,0.2781,-22.1426,loss_of_function,-6.63983975597563,0.1536141440865458,0.9797718915929864,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155I,NP_000240:p.Leu155Ile,"hg19,3:g.37050314C>A",,3.9795609748e-06,0.674,"cBioPortal,saturation",,1.81646,1.31769,1.1699293495215912,Neutral,Neutral,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,T,-0.1997,0.2781,-8.8547,loss_of_function,-2.90359582375181,0.6148570813664407,0.4600991998807414,Uncertain,0.2511,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155K,NP_000240:p.Leu155Lys,,,,,saturation,,3.93039,6.33673,5.35076115029906,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,T,-0.482,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.979826372544768,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155M,NP_000240:p.Leu155Met,,,,,saturation,,-0.20444,1.81939,1.3753530653475885,Neutral,Neutral,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.84,T,-0.2041,0.2781,-5.1544,loss_of_function,-2.58726987737012,0.6539078262572036,0.2473052716827878,Benign,0.2409,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155N,NP_000240:p.Leu155Asn,,,,,saturation,,2.79835,3.67721,3.4654778795061505,Uncertain,Uncertain,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4612,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9822196782382469,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155P,NP_000240:p.Leu155Pro,"hg19,3:g.37050315T>C, hg38,3:g.37008824T>C",,,0.830,"cBioPortal,COSMIC,saturation",,3.30311,3.68197,6.561656127072615,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4768,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9807804749859964,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155Q,NP_000240:p.Leu155Gln,,,,,saturation,,3.48224,2.73469,3.263024329339397,Uncertain,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4142,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9855833757710885,Pathogenic,0.9843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155R,NP_000240:p.Leu155Arg,,,,,"saturation,clinvar",,5.39512,6.99864,4.274189462146346,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90241,Pathogenic,3,92.84,T,-0.4736,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9789390600236528,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155S,NP_000240:p.Leu155Ser,,,,,saturation,,3.93112,4.85408,4.676595057377214,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.4238,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9843859884534972,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155T,NP_000240:p.Leu155Thr,,,,,saturation,,2.6739,3.36871,3.525215688103053,Uncertain,Uncertain,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.84,T,-0.3965,0.2781,-22.1426,loss_of_function,-7.29497868830418,0.0727366074601356,0.9812913778615134,Pathogenic,0.9434,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155V,NP_000240:p.Leu155Val,,,,,"saturation,clinvar",,1.22109,2.3381,1.7948500876248168,Uncertain,Neutral,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1006575,Uncertain significance,1,92.84,T,-0.3038,0.2781,-22.1426,loss_of_function,-4.3843659565422,0.43205457224920013,0.82062761944272,Pathogenic,0.3403,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155W,NP_000240:p.Leu155Trp,,,,,saturation,,8.36517,4.69354,3.1620955666559123,Destabilizing,Destabilizing,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.426,0.2781,-22.1426,loss_of_function,-6.63983975597563,0.1536141440865458,0.9782389820855631,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L155Y,NP_000240:p.Leu155Tyr,,,,,saturation,,6.96187,4.70578,2.848404882501572,Destabilizing,Uncertain,False,0.104,,,,,,,,,,0.4,,True,0.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.84,T,-0.4189,0.2781,-22.1426,loss_of_function,-6.63983975597563,0.1536141440865458,0.9844511794289316,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156A,NP_000240:p.Phe156Ala,,,,,saturation,,4.86745,4.93401,4.216172411868244,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.4467,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9907686536742986,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156C,NP_000240:p.Phe156Cys,,,,,saturation,,4.42752,4.6534,4.31790888528899,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.4149,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9916793254340822,Pathogenic,0.9863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156D,NP_000240:p.Phe156Asp,,,,,saturation,,4.71508,4.7966,5.277776005528447,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.5697,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9888251331018753,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156E,NP_000240:p.Phe156Glu,,,,,saturation,,5.06873,5.48707,4.759405456360309,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.5391,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9911075353343606,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156G,NP_000240:p.Phe156Gly,,,,,saturation,,4.39943,4.76769,6.375986030502513,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.4821,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9907240411325064,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156H,NP_000240:p.Phe156His,,,,,saturation,,3.22637,2.7085,2.629706261787517,Uncertain,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.4743,0.0223,-22.1426,loss_of_function,-4.44288172579044,0.4248307437800599,0.9890481513643384,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156I,NP_000240:p.Phe156Ile,,,,,saturation,,6.04377,7.86293,2.562145139594226,Destabilizing,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.3907,0.0223,-22.1426,loss_of_function,-7.13603288814678,0.09235862065381553,0.9897196381248384,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156K,NP_000240:p.Phe156Lys,,,,,saturation,,3.03215,5.85068,5.354643282483047,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.546,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9907676195216064,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156L,NP_000240:p.Phe156Leu,,,,,"saturation,clinvar",,1.45036,2.48878,1.9004162612206257,Uncertain,Neutral,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"1393471, 405394","Uncertain significance, Uncertain significance","1, 2",91.77,T,-0.3528,0.0223,-22.1426,loss_of_function,-7.13603288814678,0.09235862065381553,0.9312902086252052,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156M,NP_000240:p.Phe156Met,,,,,saturation,,1.32487,2.89728,2.2270295005468643,Uncertain,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.3838,0.0223,-22.1426,loss_of_function,-7.13603288814678,0.09235862065381553,0.9929240185171304,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156N,NP_000240:p.Phe156Asn,,,,,saturation,,4.49065,3.62891,4.067377855275092,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.4994,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9913079887188804,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156P,NP_000240:p.Phe156Pro,,,,,saturation,,11.19636,4.76633,7.905221608761312,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.5701,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.990371412218248,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156Q,NP_000240:p.Phe156Gln,,,,,saturation,,4.36091,4.31156,3.875831529427435,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.5014,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9890073296133822,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156R,NP_000240:p.Phe156Arg,,,,,saturation,,3.48751,7.35646,4.444486569648653,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.5473,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9866590600384764,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156S,NP_000240:p.Phe156Ser,,,,,"saturation,clinvar",,5.29569,5.78741,5.263981256177397,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2709975,Uncertain significance,1,91.77,T,-0.4257,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9902120291282214,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156T,NP_000240:p.Phe156Thr,,,,,saturation,,7.31715,5.62619,4.186691082629627,Destabilizing,Destabilizing,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.472,0.0223,-22.1426,loss_of_function,-7.39285778148785,0.060653338472005804,0.9919265830736084,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156V,NP_000240:p.Phe156Val,,,,,saturation,,6.22395,8.41837,2.853367506410639,Destabilizing,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.77,T,-0.385,0.0223,-22.1426,loss_of_function,-7.13603288814678,0.09235862065381553,0.9904118692311418,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156W,NP_000240:p.Phe156Trp,,,,,saturation,,3.83682,2.58878,1.2193445996494374,Uncertain,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.77,T,-0.3703,0.0223,-22.1426,loss_of_function,-4.44288172579044,0.4248307437800599,0.9917028305355564,Pathogenic,0.9735,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F156Y,NP_000240:p.Phe156Tyr,,,,,saturation,,3.45823,1.17177,1.1325832289242737,Uncertain,Uncertain,False,0.129,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.77,T,-0.2708,0.0223,-8.8547,loss_of_function,-4.44288172579044,0.4248307437800599,0.7743676723306727,Pathogenic,0.8954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157A,NP_000240:p.Tyr157Ala,,,,,saturation,,0.48016,-0.02959,1.5432017510261544,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4102,0.4491,-22.1426,loss_of_function,-5.25032977217041,0.3251504992967884,0.871559578153237,Pathogenic,0.9651,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157C,NP_000240:p.Tyr157Cys,,,,,saturation,,0.84378,0.4534,1.926466621800812,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.3809,0.4491,-22.1426,loss_of_function,-4.98882199649497,0.35743388784478386,0.9230817265761264,Pathogenic,0.4652,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157D,NP_000240:p.Tyr157Asp,,,,,saturation,,0.74484,1.13163,1.7352000034442103,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4244,0.4491,-22.1426,loss_of_function,-4.98724441079615,0.3576286423294304,0.9365825906029108,Pathogenic,0.9734,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157E,NP_000240:p.Tyr157Glu,,,,,saturation,,0.6258,0.83435,1.3457898943850584,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4531,0.4491,-22.1426,loss_of_function,-5.46620999559755,0.2984998763287886,0.9286459739466292,Pathogenic,0.9919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157F,NP_000240:p.Tyr157Phe,,,,,saturation,,-0.63111,0.08265,0.2761012404521573,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.14,T,-0.1532,0.4491,-3.6069,loss_of_function,-0.946293089468216,0.8564880023351342,0.0205619212073122,Benign,0.1285,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157G,NP_000240:p.Tyr157Gly,,,,,saturation,,1.05646,0.97687,2.2766848124182646,Neutral,Uncertain,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4808,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.931589858099836,Pathogenic,0.9274,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157H,NP_000240:p.Tyr157His,,,,,"saturation,clinvar",,0.85652,0.07177,0.7074235460760633,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,1332508,Uncertain significance,2,91.14,T,-0.245,0.4491,-7.8548,loss_of_function,-2.40041209817539,0.6769756003353475,0.1569547023424867,Benign,0.5216,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157I,NP_000240:p.Tyr157Ile,,,,,saturation,,0.42497,0.05204,0.875710500127059,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4223,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.982550582868536,Pathogenic,0.9706,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157K,NP_000240:p.Tyr157Lys,,,,,saturation,,0.67607,0.51293,1.2058430283317616,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4784,0.4491,-22.1426,loss_of_function,-4.75462427801901,0.38634582334301204,0.9456795418713106,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157L,NP_000240:p.Tyr157Leu,,,,,saturation,,0.46545,-0.0466,0.3510176314939695,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.3994,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.8825628658163015,Pathogenic,0.938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157M,NP_000240:p.Tyr157Met,,,,,saturation,,-0.27237,-0.17959,0.796181957736174,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.3515,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.9742736910499568,Pathogenic,0.9723,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157N,NP_000240:p.Tyr157Asn,,,,,saturation,,0.55495,0.81293,1.227325247904722,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4034,0.4491,-22.1426,loss_of_function,-5.46620999559755,0.2984998763287886,0.9000578169407663,Pathogenic,0.8762,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157P,NP_000240:p.Tyr157Pro,,,,,saturation,,1.94151,7.74252,4.535713453100757,Uncertain,Uncertain,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.5344,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.9881150459230368,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157Q,NP_000240:p.Tyr157Gln,,,,,saturation,,0.5298,0.04626,1.2549426630229958,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4279,0.4491,-22.1426,loss_of_function,-4.74686260258336,0.3873040097037247,0.8766278910505757,Pathogenic,0.9572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157R,NP_000240:p.Tyr157Arg,,,,,saturation,,0.92001,0.80612,0.7760397352176026,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4738,0.4491,-22.1426,loss_of_function,-4.18303080174162,0.45690959238774037,0.930456113571501,Pathogenic,0.9196,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157S,NP_000240:p.Tyr157Ser,,,,,"saturation,clinvar",,1.18645,0.97245,1.7987933952307644,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,825113,Uncertain significance,1,91.14,T,-0.415,0.4491,-22.1426,loss_of_function,-5.49345499796054,0.29513645436168395,0.8808818608117144,Pathogenic,0.8593,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157T,NP_000240:p.Tyr157Thr,,,,,saturation,,1.01071,0.94932,1.3780887347829245,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4336,0.4491,-22.1426,loss_of_function,-5.49345499796054,0.29513645436168395,0.9789697684607764,Pathogenic,0.9791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157V,NP_000240:p.Tyr157Val,,,,,saturation,,0.70144,0.33265,1.0983263405815755,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,DOWN,neutral,destabilizing,neutral,,,,91.14,T,-0.4118,0.4491,-22.1426,loss_of_function,-6.24428396577917,0.2024458900426221,0.9672141725674012,Pathogenic,0.9371,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y157W,NP_000240:p.Tyr157Trp,,,,,saturation,,1.16257,0.00884,-0.2075289737995966,Neutral,Neutral,False,0.111,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,False,33.1,,uncertain,,,UP,neutral,neutral,neutral,,,,91.14,T,-0.3278,0.4491,-22.1426,loss_of_function,-2.77004981044295,0.6313434662379808,0.9499182123054716,Pathogenic,0.5155,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158A,NP_000240:p.Asn158Ala,,,,,saturation,,0.52704,0.67755,0.6818442623001469,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,89.93,T,-0.3148,0.1484,-22.1426,loss_of_function,-5.60977931106827,0.2807761050835947,0.9241453151574288,Pathogenic,0.8474,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158C,NP_000240:p.Asn158Cys,,,,,saturation,,0.14905,0.70612,1.2059309265747138,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,89.93,T,-0.3646,0.1484,-22.1426,loss_of_function,-5.92055984206892,0.24240994710021435,0.9863629978380376,Pathogenic,0.7497,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158D,NP_000240:p.Asn158Asp,"hg38,3:g.37008832A>G",,,0.845,"COSMIC,saturation",,0.28757,1.98673,0.9856085822840872,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.93,T,-0.2451,0.1484,-7.8548,loss_of_function,-3.35908714410677,0.5586262360798022,0.7865122444118555,Pathogenic,0.874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158E,NP_000240:p.Asn158Glu,,,,,saturation,,0.44434,1.09184,0.8995788689327235,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3451,0.1484,-22.1426,loss_of_function,-4.43137042692193,0.4262518247903831,0.9681486070156726,Pathogenic,0.9843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158F,NP_000240:p.Asn158Phe,,,,,saturation,,0.97805,-0.56973,0.1068739641040239,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3719,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9839332971276384,Pathogenic,0.988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158G,NP_000240:p.Asn158Gly,,,,,saturation,,1.02185,1.93367,1.7083432614708145,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,89.93,T,-0.3455,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9839287572805816,Pathogenic,0.7843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158H,NP_000240:p.Asn158His,"hg38,3:g.37008832A>C",,,0.855,"COSMIC,saturation,clinvar",,2.00568,0.31735,0.3989350308693756,Uncertain,Uncertain,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,629883,Uncertain significance,2,89.93,T,-0.3197,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9683209925252392,Pathogenic,0.6738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158I,NP_000240:p.Asn158Ile,,,,,saturation,,0.04717,1.67109,0.245776943307599,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.365,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.988801039114812,Pathogenic,0.9372,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158K,NP_000240:p.Asn158Lys,,,,,saturation,,0.62054,1.36633,0.9193949713061916,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.318,0.1484,-22.1426,loss_of_function,-5.99268178828292,0.23350642288778745,0.90611060740849,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158L,NP_000240:p.Asn158Leu,,,,,saturation,,-0.13827,0.05714,-0.0741088055907751,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3714,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9906969418423022,Pathogenic,0.8656,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158M,NP_000240:p.Asn158Met,,,,,saturation,,0.14455,0.42517,0.2927030983266898,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3256,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9891529627032178,Pathogenic,0.9291,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158P,NP_000240:p.Asn158Pro,,,,,saturation,,1.71755,5.69354,3.768535285681668,Uncertain,Uncertain,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.93,T,-0.4804,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9881550817919148,Pathogenic,0.975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158Q,NP_000240:p.Asn158Gln,,,,,saturation,,0.75323,0.82857,0.8374835633480132,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3087,0.1484,-22.1426,loss_of_function,-4.43137042692193,0.4262518247903831,0.9645696606052696,Pathogenic,0.9491,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158R,NP_000240:p.Asn158Arg,,,,,saturation,,0.78954,0.89456,0.5101797341652794,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3501,0.1484,-22.1426,loss_of_function,-6.59780864781175,0.1588029251560672,0.9595809594770238,Pathogenic,0.9609,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158S,NP_000240:p.Asn158Ser,"hg19,3:g.37050324A>G, hg38,3:g.37008833A>G",,,0.710,"cBioPortal,COSMIC,saturation,clinvar",,0.81313,1.50986,1.072466066685808,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,2066209,Uncertain significance,1,89.93,T,-0.205,0.1484,-6.5329,loss_of_function,-4.7281167552854,0.38961820273457565,0.5124850679515289,Uncertain,0.2166,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158T,NP_000240:p.Asn158Thr,,,,,saturation,,1.01376,0.8119,0.807653084494292,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.93,T,-0.2664,0.1484,-8.8547,loss_of_function,-4.70740605418929,0.3921749588725535,0.8856739249154758,Pathogenic,0.4713,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158V,NP_000240:p.Asn158Val,,,,,saturation,,0.34723,0.54286,0.3103917838100117,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3584,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9887526724816812,Pathogenic,0.8809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158W,NP_000240:p.Asn158Trp,,,,,saturation,,1.25804,-0.25748,-0.1117618430791311,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.377,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.987371773792734,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N158Y,NP_000240:p.Asn158Tyr,,,,,saturation,,1.11743,-0.83061,0.3584161626058124,Neutral,Neutral,False,0.09,,,,,,,,,,17.1,,False,17.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.93,T,-0.3555,0.1484,-22.1426,loss_of_function,-7.36628706395495,0.06393351932283552,0.9731788170326576,Pathogenic,0.8988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159A,NP_000240:p.Ile159Ala,,,,,saturation,,1.46637,1.50748,1.7715248825410883,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.1708,1.9236,-6.8611,loss_of_function,-2.46012113703217,0.6696044615756606,0.2860728737721101,Benign,0.5755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159C,NP_000240:p.Ile159Cys,,,,,saturation,,0.42689,1.51293,1.9316573584508585,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.161,1.9236,-8.8609,loss_of_function,-2.79830825746817,0.6278549335443666,0.373981318868605,Uncertain,0.7841,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159D,NP_000240:p.Ile159Asp,,,,,saturation,,-3.09663,-0.33401,2.087791095532147,Uncertain,Uncertain,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3729,1.9236,-22.1488,loss_of_function,-3.73469257959113,0.5122573807631249,0.6159559386957482,Uncertain,0.965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159E,NP_000240:p.Ile159Glu,,,,,saturation,,-2.49955,1.06088,1.8412247281636416,Uncertain,Uncertain,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3538,1.9236,-22.1488,loss_of_function,-3.73469257959113,0.5122573807631249,0.7231951178932512,Pathogenic,0.9496,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159F,NP_000240:p.Ile159Phe,,,,,saturation,,0.16127,1.05782,0.5636061182895143,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.6,-,-0.2098,1.9236,-22.1488,loss_of_function,-3.23357692941266,0.5741205938182931,0.227558537504417,Benign,0.3687,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159G,NP_000240:p.Ile159Gly,,,,,saturation,,1.89033,3.83027,2.8160193966752245,Uncertain,Uncertain,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3395,1.9236,-22.1488,loss_of_function,-4.72567124069408,0.38992010388282056,0.6770104873672391,Uncertain,0.889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159H,NP_000240:p.Ile159His,,,,,saturation,,0.26329,1.48844,1.199237810378077,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3394,1.9236,-22.1488,loss_of_function,-4.2021165684064,0.4545534359813619,0.7466947148236368,Pathogenic,0.8627,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159K,NP_000240:p.Ile159Lys,,,,,saturation,,0.9438,2.65034,1.5595167127559977,Uncertain,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.6,-,-0.3463,1.9236,-22.1488,loss_of_function,-4.24589923827738,0.4491484229202295,0.6786564214306777,Uncertain,0.9399,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159L,NP_000240:p.Ile159Leu,,,,,saturation,,-0.59875,-0.32891,0.2505845747011076,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.6,-,-0.0473,1.9236,-5.1606,loss_of_function,-1.59268201212392,0.7766906628896209,0.0078860900210935,Benign,0.1737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159M,NP_000240:p.Ile159Met,,,,,saturation,,-0.88322,1.2915,0.6708335457578509,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.6,-,-0.0449,1.9236,-3.5757,loss_of_function,-0.937089490413342,0.8576241955651864,0.0005055935655919,Benign,0.1076,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159N,NP_000240:p.Ile159Asn,,,,,saturation,,-0.13419,0.60952,1.4652329270604638,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.205,1.9236,-6.2761,loss_of_function,-2.56068467576465,0.6571897951808404,0.054844643616803,Benign,0.5198,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159P,NP_000240:p.Ile159Pro,,,,,saturation,,3.27022,5.62857,6.705970970080812,Destabilizing,Destabilizing,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3929,1.9236,-22.1488,loss_of_function,-4.72567124069408,0.38992010388282056,0.8729979312965053,Pathogenic,0.9677,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159Q,NP_000240:p.Ile159Gln,,,,,saturation,,0.69027,0.96224,1.387004225239293,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.3135,1.9236,-22.1488,loss_of_function,-3.73469257959113,0.5122573807631249,0.3716306075090966,Uncertain,0.8523,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159R,NP_000240:p.Ile159Arg,,,,,saturation,,1.06642,1.27755,1.0981138637953352,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.6,-,-0.3731,1.9236,-22.1488,loss_of_function,-4.34217437491928,0.437263163922886,0.7485228778537761,Pathogenic,0.889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159S,NP_000240:p.Ile159Ser,,,,,saturation,,0.887,2.41837,2.085960212672138,Uncertain,Uncertain,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.2216,1.9236,-8.8609,loss_of_function,-2.78251163317856,0.6298050421343349,0.2099166703855497,Benign,0.5028,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159T,NP_000240:p.Ile159Thr,,,,,saturation,,1.19539,2.26565,1.705868034916998,Uncertain,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.6,-,-0.1099,1.9236,-3.2761,loss_of_function,-1.66901105277754,0.76726776878809,0.0504803157630509,Benign,0.335,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159V,NP_000240:p.Ile159Val,,,,,"saturation,clinvar",,0.9328,0.57483,0.7555158372363315,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,566262,Uncertain significance,2,87.6,-,0.0143,1.9236,-0.8953,gain_of_function,-0.271711844510131,0.9397657113130918,1.540597882726976e-05,Benign,0.0652,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159W,NP_000240:p.Ile159Trp,,,,,saturation,,0.61288,1.68469,0.5195341885880039,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.6,-,-0.2987,1.9236,-22.1488,loss_of_function,-4.2021165684064,0.4545534359813619,0.6581605021723868,Uncertain,0.9481,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I159Y,NP_000240:p.Ile159Tyr,,,,,saturation,,0.63175,1.37177,0.8866681058329703,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.4,,False,28.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.6,-,-0.3076,1.9236,-22.1488,loss_of_function,-4.00607120525842,0.4787554262097293,0.4306609889888033,Uncertain,0.8536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160C,NP_000240:p.Ala160Cys,,,,,saturation,,0.54548,1.02483,0.7871622856236634,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1136,2.4615,-22.1488,loss_of_function,-2.58188840871531,0.6545721737822183,0.5614156072415022,Uncertain,0.1686,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160D,NP_000240:p.Ala160Asp,,,,,saturation,,-0.7673,-0.63605,-0.2582291369665024,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1174,2.4615,-6.8611,loss_of_function,-2.09670820735355,0.7144681402248995,0.0232018999482229,Benign,0.3358,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160E,NP_000240:p.Ala160Glu,,,,,saturation,,-1.04431,-0.81259,-0.4504981813560393,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1081,2.4615,-7.861,loss_of_function,-2.1923053855077,0.7026665758604324,0.0383939254697769,Benign,0.3401,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160F,NP_000240:p.Ala160Phe,,,,,saturation,,0.0265,0.40612,-0.6338814950027427,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1637,2.4615,-22.1488,loss_of_function,-3.72677480420352,0.5132348378143109,0.5470506469050893,Uncertain,0.1994,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160G,NP_000240:p.Ala160Gly,,,,,"saturation,clinvar",,0.5048,0.75884,0.5889896667209787,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483582,Uncertain significance,2,85.99,H,-0.0342,2.4615,-7.861,loss_of_function,-1.57942374304589,0.7783274090667255,0.3690386062408284,Uncertain,0.0896,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160H,NP_000240:p.Ala160His,,,,,saturation,,0.63496,0.19048,-0.6538348662181748,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1679,2.4615,-22.1488,loss_of_function,-3.23163980142777,0.5743597341468812,0.1265578648726251,Benign,0.2782,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160I,NP_000240:p.Ala160Ile,,,,,saturation,,0.09975,-0.02177,-0.5177673645235997,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.0634,2.4615,-4.5392,loss_of_function,-0.352886477871424,0.9297446240919756,0.0279150478811482,Benign,0.1112,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160K,NP_000240:p.Ala160Lys,,,,,saturation,,0.04126,-0.0398,-0.4139132803325474,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1179,2.4615,-8.8609,loss_of_function,-2.92624210168079,0.6120613763910959,0.1283121278638388,Benign,0.4486,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160L,NP_000240:p.Ala160Leu,,,,,saturation,,-0.29611,-0.08231,-0.7173907218842451,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.0784,2.4615,-6.5391,loss_of_function,-1.50944945228097,0.7869658031309158,0.0431049377840273,Benign,0.086,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160M,NP_000240:p.Ala160Met,,,,,saturation,,-0.43782,-0.09218,-0.4308652501158627,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.0346,2.4615,-6.0537,loss_of_function,-0.335642072567097,0.9318734626524382,0.0859464946219444,Benign,0.1133,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160N,NP_000240:p.Ala160Asn,,,,,saturation,,0.50048,0.23367,-0.068852811574997,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.0745,2.4615,-4.2761,loss_of_function,-0.636247800891179,0.8947633939281953,0.0060092682530155,Benign,0.1128,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160P,NP_000240:p.Ala160Pro,,,,,saturation,,-1.71627,-1.04966,0.2248066189857506,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1283,2.4615,-1.2172,loss_of_function,-0.0475534087259845,0.9674382876257438,0.0005853982988162,Benign,0.0915,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160Q,NP_000240:p.Ala160Gln,,,,,saturation,,-0.11042,-0.39048,-0.152323034139305,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.0873,2.4615,-7.2761,loss_of_function,-0.951363584747229,0.85586204477498,0.0693422326067991,Benign,0.228,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160R,NP_000240:p.Ala160Arg,,,,,saturation,,-0.15077,0.33844,-0.542248654275645,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1286,2.4615,-8.8609,loss_of_function,-3.1146417280715,0.5888032597811442,0.1451252451141327,Benign,0.4438,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160S,NP_000240:p.Ala160Ser,"hg19,3:g.37050329G>T",,,0.458,"cBioPortal,saturation,clinvar",,0.35937,0.22279,-0.1494191809811124,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,231743,Conflicting classifications of pathogenicity,1,85.99,H,0.0231,2.4615,-2.2612,gain_of_function,-0.0652558712390782,0.9652529014585813,0.0003680680286275,Benign,0.0693,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160T,NP_000240:p.Ala160Thr,,,,,saturation,,0.31088,-0.00952,-0.256212182409144,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,0.0063,2.4615,-4.4017,gain_of_function,-0.0369205291217529,0.9687509269258979,0.0031856421419733,Benign,0.0635,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160V,NP_000240:p.Ala160Val,,,,,"saturation,clinvar",,0.47454,-0.07211,-0.3477063794232227,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90244,Conflicting classifications of pathogenicity,1,85.99,H,-0.0054,2.4615,-7.2761,loss_of_function,-0.64090614365699,0.8941883169955497,0.0146943526078669,Benign,0.0798,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160W,NP_000240:p.Ala160Trp,,,,,saturation,,-0.04643,-0.21395,-1.146030681750707,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1747,2.4615,-22.1488,loss_of_function,-3.72677480420352,0.5132348378143109,0.5531538074499777,Uncertain,0.4762,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A160Y,NP_000240:p.Ala160Tyr,,,,,saturation,,0.07369,0.17823,-0.6514219746584049,Neutral,Neutral,False,0.113,,,,,,,Uncertain,Uncertain,Uncertain,88.6,,False,88.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,H,-0.1829,2.4615,-22.1488,loss_of_function,-3.72677480420352,0.5132348378143109,0.4521271822689948,Uncertain,0.2807,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161A,NP_000240:p.Thr161Ala,,,,,"saturation,clinvar",,-0.24546,-0.08571,0.1860475057379723,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,DOWN,neutral,neutral,neutral,825205,Uncertain significance,2,86.99,H,-0.0778,1.6696,-4.3375,loss_of_function,-1.4420625576651,0.7952847806309461,0.1303589821177866,Benign,0.1401,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161C,NP_000240:p.Thr161Cys,,,,,saturation,,-0.21509,0.99048,0.8330481458867911,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,86.99,H,-0.2045,1.6696,-22.1488,loss_of_function,-3.00588791703861,0.6022290232353352,0.9249134362577932,Pathogenic,0.792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161D,NP_000240:p.Thr161Asp,,,,,saturation,,-1.04417,-0.24014,-0.0777287554083128,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,86.99,H,-0.2843,1.6696,-22.1488,loss_of_function,-3.67379084332496,0.5197757591748186,0.920051338807702,Pathogenic,0.97,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161E,NP_000240:p.Thr161Glu,,,,,saturation,,-1.44531,-0.35714,-0.2716874554186049,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.1867,1.6696,-7.861,loss_of_function,-3.67379084332496,0.5197757591748186,0.8641331461974129,Pathogenic,0.9451,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161F,NP_000240:p.Thr161Phe,,,,,saturation,,-0.11554,-0.19932,-0.2232912988406954,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2081,1.6696,-8.8609,loss_of_function,-4.38402076441297,0.43209718655236135,0.8041060159624258,Pathogenic,0.6778,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161G,NP_000240:p.Thr161Gly,,,,,saturation,,0.13736,0.71293,0.7149530087457545,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,86.99,H,-0.1744,1.6696,-8.8609,loss_of_function,-3.81033796389596,0.502918884700942,0.7909060897553989,Pathogenic,0.4559,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161H,NP_000240:p.Thr161His,,,,,saturation,,0.15205,0.0966,-0.2992898552252088,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2562,1.6696,-22.1488,loss_of_function,-4.12605199240832,0.4639436816646575,0.8310985715411191,Pathogenic,0.8191,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161I,NP_000240:p.Thr161Ile,,,,,saturation,,-0.4133,0.01837,-0.2057135331284965,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.1079,1.6696,-5.1606,loss_of_function,-1.95377321170754,0.7321136040724953,0.0242827962518338,Benign,0.3999,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161K,NP_000240:p.Thr161Lys,"hg19,3:g.37050333C>A",,,0.703,"cBioPortal,saturation",,-0.1287,-0.04354,-0.1974026698895831,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2518,1.6696,-22.1488,loss_of_function,-4.96123279552472,0.3608398014637989,0.8075859203333763,Pathogenic,0.9228,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161L,NP_000240:p.Thr161Leu,,,,,saturation,,-0.24815,0.11667,-0.2808755935462154,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.1618,1.6696,-5.5392,loss_of_function,-1.75683146095408,0.7564262542201808,0.1458538569114779,Benign,0.2104,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161M,NP_000240:p.Thr161Met,"hg19,3:g.37050333C>T",,1.591216485e-05,0.612,"cBioPortal,saturation,clinvar",,-0.48957,0.21156,-0.0609178509399349,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,421591,Uncertain significance,2,86.99,H,-0.1376,1.6696,-7.2761,loss_of_function,-2.37306798092053,0.6803512581319868,0.2293355737270865,Benign,0.1469,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161N,NP_000240:p.Thr161Asn,,,,,saturation,,0.11044,-0.03878,0.1372497374985709,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,86.99,H,-0.1463,1.6696,-6.8611,loss_of_function,-2.75931481577349,0.6326687117419806,0.153579332985582,Benign,0.4655,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161P,NP_000240:p.Thr161Pro,,,,,saturation,,-1.40993,0.23401,1.5248675238161384,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,86.99,H,-0.333,1.6696,-22.1488,loss_of_function,-3.88506488004622,0.49369377442327894,0.7959159360917512,Pathogenic,0.3399,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161Q,NP_000240:p.Thr161Gln,,,,,saturation,,-0.34721,0.04014,0.0573674645583749,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.1432,1.6696,-4.4017,loss_of_function,-2.53018399052302,0.6609551343570557,0.0365179361550061,Benign,0.7258,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161R,NP_000240:p.Thr161Arg,,,,,saturation,,0.05981,0.29694,-0.24073567469575,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2546,1.6696,-22.1488,loss_of_function,-4.96123279552472,0.3608398014637989,0.8978029964576291,Pathogenic,0.8865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161S,NP_000240:p.Thr161Ser,,,,,saturation,,0.16157,0.09762,0.1144679253034591,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,neutral,,,DOWN,neutral,neutral,neutral,,,,86.99,H,-0.0391,1.6696,-3.8611,loss_of_function,-0.975621608646385,0.8528673681963571,0.063031140331153,Benign,0.2536,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161V,NP_000240:p.Thr161Val,,,,,saturation,,-0.17167,-0.00034,0.0097481358495143,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.0939,1.6696,-4.8611,loss_of_function,-2.00661539742383,0.72559018499328,0.0164722782147675,Benign,0.2181,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161W,NP_000240:p.Thr161Trp,,,,,saturation,,-0.36957,-0.59218,-0.7798533914321737,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2688,1.6696,-22.1488,loss_of_function,-4.38402076441297,0.43209718655236135,0.9115228992045488,Pathogenic,0.9483,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T161Y,NP_000240:p.Thr161Tyr,,,,,saturation,,-0.09875,-0.32993,-0.2173781874275798,Neutral,Neutral,False,0.135,,,,,,,Uncertain,Uncertain,Uncertain,102.8,,False,102.8,,uncertain,,,UP,neutral,neutral,neutral,,,,86.99,H,-0.2045,1.6696,-7.861,loss_of_function,-3.77590552737819,0.5071696023856697,0.5265666593469942,Uncertain,0.8466,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162A,NP_000240:p.Arg162Ala,,,,,saturation,,0.48621,0.72007,0.9369530540950108,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4043,0.0562,-22.1519,loss_of_function,-6.67069501176359,0.149805032832482,0.9924653959893972,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162C,NP_000240:p.Arg162Cys,,,,,saturation,,-0.11524,1.27517,1.676096046519349,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4131,0.0562,-22.1519,loss_of_function,-6.67069501176359,0.149805032832482,0.9938441487811238,Pathogenic,0.9812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162D,NP_000240:p.Arg162Asp,,,,,saturation,,1.27176,1.26224,1.5032366501152818,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4953,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9944211781998512,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162E,NP_000240:p.Arg162Glu,,,,,saturation,,1.16491,1.35714,0.9926734364444206,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4405,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9936912576234967,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162F,NP_000240:p.Arg162Phe,,,,,saturation,,0.43611,-0.18333,0.2445104203232029,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.2,H,-0.4364,0.0562,-22.1519,loss_of_function,-7.13486874685049,0.09250233502596313,0.994354451011182,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162G,NP_000240:p.Arg162Gly,,,,,"saturation,clinvar",,1.69824,2.67143,2.0375340699004174,Uncertain,Uncertain,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1743550,Uncertain significance,1,85.2,H,-0.4396,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.986975525445512,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162H,NP_000240:p.Arg162His,,,,,saturation,,0.76244,0.57823,0.7137270443862065,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.374,0.0562,-22.1519,loss_of_function,-7.13486874685049,0.09250233502596313,0.9967331317640103,Pathogenic,0.9809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162I,NP_000240:p.Arg162Ile,,,,,saturation,,-0.76722,-1.44116,-0.0604811828790652,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4337,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9923771072323504,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162K,NP_000240:p.Arg162Lys,"hg19,3:g.37050336G>A",,,0.813,"cBioPortal,saturation,clinvar",,-0.27747,0.67517,0.7100384810052193,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2676583,Uncertain significance,1,85.2,H,-0.2186,0.0562,-7.2792,loss_of_function,-4.11683540651937,0.46508147813197265,0.9493824728780844,Pathogenic,0.9735,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162L,NP_000240:p.Arg162Leu,,,,,saturation,,-0.63564,-0.87347,-0.2188610510230454,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4067,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9945937707233364,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162M,NP_000240:p.Arg162Met,,,,,saturation,,-0.40242,0.05,0.2696064418507321,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.3726,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9946837158519436,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162N,NP_000240:p.Arg162Asn,,,,,saturation,,-0.17678,0.83367,1.1321501128094291,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4192,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.993269436926242,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162P,NP_000240:p.Arg162Pro,,,,,saturation,,1.36496,6.94252,4.229203763037756,Uncertain,Uncertain,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.5463,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9928928220289271,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162Q,NP_000240:p.Arg162Gln,,,,,saturation,,-0.04622,-0.20442,0.8822266337040943,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.379,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.9934230888049218,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162S,NP_000240:p.Arg162Ser,,,,,saturation,,0.76548,1.50272,1.4646750531099566,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4048,0.0562,-22.1519,loss_of_function,-6.07461659960183,0.22339149096049374,0.9763148925473006,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162T,NP_000240:p.Arg162Thr,,,,,saturation,,0.84581,0.18912,0.9857750865865044,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4091,0.0562,-22.1519,loss_of_function,-6.67069501176359,0.149805032832482,0.9937569208376282,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162V,NP_000240:p.Arg162Val,,,,,saturation,,0.03646,-0.62925,0.207328496949718,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.2,H,-0.4208,0.0562,-22.1519,loss_of_function,-7.39169364019156,0.060797052844153286,0.986527909217876,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162W,NP_000240:p.Arg162Trp,"hg19,3:g.37050335A>T",,,0.922,"cBioPortal,saturation",,0.21669,-0.34762,-0.0627780818267259,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.2,H,-0.422,0.0562,-22.1519,loss_of_function,-7.13486874685049,0.09250233502596313,0.9933624118181996,Pathogenic,0.9821,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R162Y,NP_000240:p.Arg162Tyr,,,,,saturation,,0.40515,-0.13299,0.3672929456675949,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.2,H,-0.4257,0.0562,-22.1519,loss_of_function,-7.13486874685049,0.09250233502596313,0.9936442066665552,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163A,NP_000240:p.Arg163Ala,,,,,saturation,,1.06647,-0.07075,1.2882009067738591,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2949,1.2442,-22.1519,loss_of_function,-4.59580237828148,0.4059525409096859,0.8343379264818429,Pathogenic,0.8812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163C,NP_000240:p.Arg163Cys,,,,,saturation,,1.68628,1.0949,1.7645764600024418,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.236,1.2442,-8.864,loss_of_function,-3.95658364615952,0.4848647133793182,0.9203685251961268,Pathogenic,0.3228,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163D,NP_000240:p.Arg163Asp,,,,,saturation,,2.00905,1.52755,2.789196310153545,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.386,1.2442,-22.1519,loss_of_function,-4.12771827703089,0.4637379772118434,0.9773366502142902,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163E,NP_000240:p.Arg163Glu,,,,,saturation,,1.28361,0.71565,1.8459494961133367,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.3312,1.2442,-22.1519,loss_of_function,-4.12771827703089,0.4637379772118434,0.9302594706284272,Pathogenic,0.8645,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163F,NP_000240:p.Arg163Phe,,,,,saturation,,0.95605,-0.72177,-0.1286962145508485,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.6,H,-0.3271,1.2442,-22.1519,loss_of_function,-3.84846714964137,0.49821179973852214,0.7741462849445919,Pathogenic,0.929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163G,NP_000240:p.Arg163Gly,,,,,"saturation,clinvar",,2.18767,1.45204,2.544576082515557,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,485804,Uncertain significance,2,85.6,H,-0.3303,1.2442,-22.1519,loss_of_function,-5.00163824228086,0.3558517098718198,0.982514948145628,Pathogenic,0.7824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163H,NP_000240:p.Arg163His,,,,,saturation,,1.79085,-0.04966,0.7155609712662714,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2647,1.2442,-22.1519,loss_of_function,-4.42101838523149,0.42752979437769006,0.9351171128908295,Pathogenic,0.3247,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163I,NP_000240:p.Arg163Ile,,,,,saturation,,1.59494,-0.41531,0.7046506967735733,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.3244,1.2442,-22.1519,loss_of_function,-3.58715383440702,0.5304711819564544,0.9358469139117368,Pathogenic,0.7211,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163K,NP_000240:p.Arg163Lys,,,,,saturation,,0.7143,0.22619,1.312169506199673,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.6,H,-0.0866,1.2442,-2.8418,loss_of_function,-0.339253911459631,0.9314275776379707,0.0064841433127955,Benign,0.0995,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163L,NP_000240:p.Arg163Leu,,,,,saturation,,0.74678,-0.82279,0.1658444270720993,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.1986,1.2442,-2.7981,loss_of_function,-1.74372167559343,0.7580446699383581,0.1142739979130877,Benign,0.5251,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163M,NP_000240:p.Arg163Met,,,,,saturation,,0.60398,-0.21803,0.4916033193851621,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2632,1.2442,-22.1519,loss_of_function,-2.9404435854484,0.6103081894457226,0.8549303548777664,Pathogenic,0.6902,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163N,NP_000240:p.Arg163Asn,,,,,saturation,,2.11617,0.94286,1.483635789329001,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.242,1.2442,-8.864,loss_of_function,-3.4218386976576,0.5508794959301476,0.960351197650272,Pathogenic,0.9607,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163P,NP_000240:p.Arg163Pro,,,,,saturation,,6.4628,6.78163,7.543882113452696,Destabilizing,Destabilizing,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.437,1.2442,-22.1519,loss_of_function,-5.00163824228086,0.3558517098718198,0.977560163487203,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163Q,NP_000240:p.Arg163Gln,,,,,saturation,,1.0422,0.17415,1.2513636063547624,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2019,1.2442,-8.864,loss_of_function,-3.30082501219471,0.5658187527737838,0.6057170345001475,Uncertain,0.1856,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163S,NP_000240:p.Arg163Ser,,,,,saturation,,1.11913,0.85816,2.0436103652328144,Neutral,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2226,1.2442,-7.8641,loss_of_function,-4.17410976954702,0.45801090246482534,0.922322894680728,Pathogenic,0.9444,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163T,NP_000240:p.Arg163Thr,,,,,saturation,,2.80872,0.68095,1.5925146569090058,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.2998,1.2442,-22.1519,loss_of_function,-4.59580237828148,0.4059525409096859,0.9489439967095548,Pathogenic,0.8615,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163V,NP_000240:p.Arg163Val,,,,,saturation,,2.48716,0.02245,0.917493762325708,Uncertain,Uncertain,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.6,H,-0.3114,1.2442,-22.1519,loss_of_function,-3.26838137957897,0.5698239506878309,0.9455692461852888,Pathogenic,0.7799,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163W,NP_000240:p.Arg163Trp,,,,,saturation,,0.84895,-0.71837,-0.4403253858837402,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.6,H,-0.3127,1.2442,-22.1519,loss_of_function,-4.42101838523149,0.42752979437769006,0.9772201424532588,Pathogenic,0.5311,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R163Y,NP_000240:p.Arg163Tyr,,,,,saturation,,0.95533,-0.72789,0.0169936546611926,Neutral,Neutral,False,0.072,,,,,,,Uncertain,Uncertain,Uncertain,54.8,,False,54.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.6,H,-0.3164,1.2442,-22.1519,loss_of_function,-4.14614224661897,0.4614635202964718,0.8482949870493877,Pathogenic,0.8209,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164A,NP_000240:p.Lys164Ala,,,,,saturation,,-0.54162,0.18231,0.1309771881886173,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.0825,1.6995,-5.8642,loss_of_function,-2.58998305487262,0.6535728818629627,0.4479710197700406,Uncertain,0.7699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164C,NP_000240:p.Lys164Cys,,,,,saturation,,0.43523,0.74694,0.770122571675857,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.2359,1.6995,-22.1519,loss_of_function,-3.77542347729794,0.5072291119356251,0.9075384116220228,Pathogenic,0.8492,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164D,NP_000240:p.Lys164Asp,,,,,saturation,,0.29075,-0.34082,0.1341966203452121,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.2747,1.6995,-22.1519,loss_of_function,-2.48411473388172,0.6666424287727838,0.680234990153895,Pathogenic,0.9415,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164E,NP_000240:p.Lys164Glu,,,,,"saturation,clinvar",,-0.23352,0.20034,0.0469185535595806,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1744024,Uncertain significance,1,85.33,H,-0.1906,1.6995,-22.1519,loss_of_function,-2.93970547256943,0.6103993101965398,0.554295323280505,Uncertain,0.7462,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164F,NP_000240:p.Lys164Phe,,,,,saturation,,-0.05499,0.43571,-0.1331033424614458,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.2368,1.6995,-22.1519,loss_of_function,-4.59398349050695,0.4061770843696219,0.894750378940704,Pathogenic,0.9626,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164G,NP_000240:p.Lys164Gly,,,,,saturation,,-0.58904,1.11429,0.599198546371614,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.152,1.6995,-7.8641,loss_of_function,-3.02576745845542,0.5997748745659229,0.4373089116619297,Uncertain,0.7662,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164H,NP_000240:p.Lys164His,,,,,saturation,,-0.52067,0.33707,-0.2120876307079366,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.1757,1.6995,-22.1519,loss_of_function,-3.95802451261996,0.48468683701725584,0.6129764526016626,Uncertain,0.504,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164I,NP_000240:p.Lys164Ile,,,,,"saturation,clinvar",,0.98057,-0.14286,-0.1351049122209752,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,419731,Uncertain significance,1,85.33,H,-0.204,1.6995,-22.1519,loss_of_function,-4.41900541624639,0.4277782973513138,0.908355252648938,Pathogenic,0.8549,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164L,NP_000240:p.Lys164Leu,,,,,saturation,,-0.07652,-0.04694,-0.5689102443171085,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.33,H,-0.1349,1.6995,-8.864,loss_of_function,-3.17523105313595,0.5813234488353157,0.3939129800024986,Uncertain,0.7228,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164M,NP_000240:p.Lys164Met,,,,,saturation,,0.07,0.20816,-0.2232028569824862,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.1079,1.6995,-8.864,loss_of_function,-4.41900541624639,0.4277782973513138,0.4668387727686757,Uncertain,0.6357,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164N,NP_000240:p.Lys164Asn,,,,,"saturation,clinvar",,-0.54846,0.18095,0.041944942588552,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455440,Uncertain significance,2,85.33,H,-0.0978,1.6995,-5.2792,loss_of_function,-2.02703882444386,0.7230688931186263,0.0215402002788381,Benign,0.8029,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164P,NP_000240:p.Lys164Pro,,,,,saturation,,1.78941,8.2102,4.580193533697076,Uncertain,Uncertain,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.34,1.6995,-22.1519,loss_of_function,-5.00026999712181,0.35602062106378884,0.8603581443978945,Pathogenic,0.9843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164Q,NP_000240:p.Lys164Gln,,,,,saturation,,0.25209,0.12415,0.2264213763199934,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.0747,1.6995,-4.4719,loss_of_function,-2.28131688233169,0.6916780202437383,0.0141600812752952,Benign,0.278,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164R,NP_000240:p.Lys164Arg,,,,,saturation,,-0.15695,0.03912,-0.1742991263667159,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.33,H,0.0026,1.6995,-2.1918,gain_of_function,-0.124482928847852,0.9579412637514424,0.0094711431520699,Benign,0.0777,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164S,NP_000240:p.Lys164Ser,,,,,saturation,,-0.58578,0.29558,0.3158180448123665,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.0827,1.6995,-3.91,loss_of_function,-2.50424249874197,0.6641576366785227,0.417826495060219,Uncertain,0.8152,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164T,NP_000240:p.Lys164Thr,,,,,saturation,,0.47047,0.02007,0.0826371697927808,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.1877,1.6995,-22.1519,loss_of_function,-2.79045230012152,0.6288247590984378,0.4544925005602003,Uncertain,0.7014,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164V,NP_000240:p.Lys164Val,,,,,saturation,,1.4358,0.10102,0.0073457947742955,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.33,H,-0.1201,1.6995,-8.864,loss_of_function,-3.82812358404577,0.500723232642871,0.8568859060342598,Pathogenic,0.7913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164W,NP_000240:p.Lys164Trp,,,,,saturation,,0.00932,0.07449,-0.6044769249358128,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.2458,1.6995,-22.1519,loss_of_function,-4.59398349050695,0.4061770843696219,0.9087276548951104,Pathogenic,0.9167,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K164Y,NP_000240:p.Lys164Tyr,,,,,saturation,,-0.02987,0.15374,-0.0670717007345705,Neutral,Neutral,False,0.075,,,,,,,Uncertain,Uncertain,Uncertain,88.3,,False,88.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.33,H,-0.2217,1.6995,-22.1519,loss_of_function,-4.59398349050695,0.4061770843696219,0.9059128150391772,Pathogenic,0.8956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165C,NP_000240:p.Ala165Cys,,,,,saturation,,0.08535,0.55782,0.6314600889371735,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.2831,0.6196,-22.1519,loss_of_function,-2.4516402804547,0.6706514315458768,0.8422594303914019,Pathogenic,0.84,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165D,NP_000240:p.Ala165Asp,,,,,saturation,,-0.13488,0.6381,0.2200177947719295,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3649,0.6196,-22.1519,loss_of_function,-4.97929177505393,0.35861040292520485,0.9827893325464993,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165E,NP_000240:p.Ala165Glu,,,,,saturation,,-0.40598,0.26156,-0.1811064857110872,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3505,0.6196,-22.1519,loss_of_function,-4.97929177505393,0.35861040292520485,0.9682356160881598,Pathogenic,0.99,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165F,NP_000240:p.Ala165Phe,,,,,saturation,,-0.25279,0.34388,-0.3532608629685013,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3332,0.6196,-22.1519,loss_of_function,-4.28766760453899,0.44399207759338116,0.881460890486544,Pathogenic,0.8093,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165G,NP_000240:p.Ala165Gly,,,,,saturation,,0.38685,1.17653,0.6896684824960286,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.8,H,-0.2766,0.6196,-22.1519,loss_of_function,-3.64765627826671,0.5230020965796209,0.6995986866351809,Pathogenic,0.5912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165H,NP_000240:p.Ala165His,,,,,saturation,,0.4189,0.44252,-0.2810726631786725,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3374,0.6196,-22.1519,loss_of_function,-4.4968444198333,0.4181689968611294,0.8331232640740016,Pathogenic,0.9708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165I,NP_000240:p.Ala165Ile,,,,,saturation,,0.16414,-0.12653,-0.4271335281798616,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.2499,0.6196,-7.8641,loss_of_function,-3.73220174051913,0.5125648772624706,0.4970995474601295,Uncertain,0.7131,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165K,NP_000240:p.Ala165Lys,,,,,saturation,,-0.29319,0.02959,-0.2815776392073943,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3552,0.6196,-22.1519,loss_of_function,-4.03793704862039,0.4748215569394679,0.9199197408735644,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165L,NP_000240:p.Ala165Leu,,,,,saturation,,-0.31848,-0.22177,-0.8326375093232158,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.2597,0.6196,-8.864,loss_of_function,-3.89558906601627,0.4923945534576884,0.8422100199642927,Pathogenic,0.5974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165M,NP_000240:p.Ala165Met,,,,,saturation,,-0.59236,-0.03163,-0.4863832026347708,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.2863,0.6196,-22.1519,loss_of_function,-3.75278362551536,0.510024023596964,0.8862667787540196,Pathogenic,0.5735,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165N,NP_000240:p.Ala165Asn,,,,,saturation,,0.03397,0.1449,-0.0159348770379214,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3352,0.6196,-22.1519,loss_of_function,-4.31240213220436,0.44093857616265003,0.9150363279748616,Pathogenic,0.8936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165P,NP_000240:p.Ala165Pro,,,,,saturation,,1.26475,8.98741,6.710543233752319,Uncertain,Uncertain,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3287,0.6196,-7.2792,loss_of_function,-5.56012138647595,0.2869064240385867,0.9710428997695988,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165Q,NP_000240:p.Ala165Gln,,,,,saturation,,-0.27448,-0.06939,-0.0477594761376753,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3327,0.6196,-22.1519,loss_of_function,-4.97929177505393,0.35861040292520485,0.967739109778862,Pathogenic,0.9486,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165R,NP_000240:p.Ala165Arg,,,,,saturation,,0.13642,0.04694,-0.5666321794477935,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3659,0.6196,-22.1519,loss_of_function,-4.91696331830085,0.36630491136480847,0.968791554621836,Pathogenic,0.9904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165S,NP_000240:p.Ala165Ser,,,,,"saturation,clinvar",,-0.42077,0.3,0.2632341132621452,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2561044,Uncertain significance,1,86.8,H,-0.158,0.6196,-4.5423,loss_of_function,-1.61115614764233,0.7744100129414933,0.2420291556231026,Benign,0.2069,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165T,NP_000240:p.Ala165Thr,,,,,saturation,,0.02934,0.08946,-0.0142178046694341,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.1698,0.6196,-5.6943,loss_of_function,-2.09334150582221,0.7148837627943648,0.0928414553401468,Benign,0.4362,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165V,NP_000240:p.Ala165Val,,,,,"saturation,clinvar",,0.35739,0.21973,-0.2157376862492876,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1015471,Uncertain significance,1,86.8,H,-0.1687,0.6196,-6.0568,loss_of_function,-2.20564014379568,0.7010203870161711,0.2367635348416421,Benign,0.3835,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165W,NP_000240:p.Ala165Trp,,,,,saturation,,-0.36934,-0.24286,-0.8395997166362718,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3442,0.6196,-22.1519,loss_of_function,-4.4968444198333,0.4181689968611294,0.9699849776088983,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A165Y,NP_000240:p.Ala165Tyr,,,,,saturation,,-0.11899,0.11973,-0.3209456862712539,Neutral,Neutral,False,0.123,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.8,H,-0.3524,0.6196,-22.1519,loss_of_function,-4.42064831764485,0.4275754795801957,0.7882351173727449,Pathogenic,0.9372,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166A,NP_000240:p.Leu166Ala,,,,,saturation,,1.88372,1.98878,2.94098121023829,Neutral,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.3325,0.9407,-22.1519,loss_of_function,-4.89332374481948,0.3692232396395099,0.95267804491341,Pathogenic,0.9033,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166C,NP_000240:p.Leu166Cys,,,,,saturation,,1.32235,1.98265,2.916052381820853,Neutral,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.3217,0.9407,-22.1519,loss_of_function,-4.5175663317619,0.4156108567350071,0.8608997919924752,Pathogenic,0.8453,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166D,NP_000240:p.Leu166Asp,,,,,saturation,,2.71616,3.52585,3.673764749373084,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.454,0.9407,-22.1519,loss_of_function,-5.27971170915082,0.32152327067851383,0.9658242668804108,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166E,NP_000240:p.Leu166Glu,,,,,saturation,,2.97269,3.83265,3.408446322827624,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.4221,0.9407,-22.1519,loss_of_function,-5.27971170915082,0.32152327067851383,0.95961315890136,Pathogenic,0.9915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166F,NP_000240:p.Leu166Phe,,,,,"saturation,clinvar",,2.47512,0.90136,0.9909241558169264,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1744561,Uncertain significance,1,84.13,-,-0.1649,0.9407,-2.3406,loss_of_function,-0.714866882954627,0.8850577919934708,0.0126651196640919,Benign,0.224,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166G,NP_000240:p.Leu166Gly,,,,,saturation,,2.69736,3.79558,4.517236087505944,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.4074,0.9407,-22.1519,loss_of_function,-5.47290569131649,0.2976732861980157,0.9395155057505488,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166H,NP_000240:p.Leu166His,,,,,saturation,,0.89944,0.92959,2.120111433294131,Neutral,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.3749,0.9407,-22.1519,loss_of_function,-3.62296913283688,0.5260497486274179,0.9679529201892256,Pathogenic,0.9368,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166I,NP_000240:p.Leu166Ile,,,,,"saturation,clinvar",,0.60676,1.0432,1.2176143064658451,Neutral,Neutral,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2586636,Uncertain significance,1,84.13,-,-0.127,0.9407,-6.5422,loss_of_function,-1.96885758987752,0.730251422956815,0.1452740602895215,Benign,0.2731,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166K,NP_000240:p.Leu166Lys,,,,,saturation,,1.65987,2.60544,3.71433171327676,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.13,-,-0.4211,0.9407,-22.1519,loss_of_function,-5.08651772698515,0.3453732551590119,0.9537302057145512,Pathogenic,0.9807,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166M,NP_000240:p.Leu166Met,,,,,saturation,,0.27949,1.27585,1.6515996131962265,Neutral,Neutral,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.13,-,-0.1503,0.9407,-6.5422,loss_of_function,-1.08475049769395,0.8393953009974601,0.1356007914315521,Benign,0.1762,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166N,NP_000240:p.Leu166Asn,,,,,saturation,,1.68233,1.76497,2.7182585939229607,Neutral,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.4003,0.9407,-22.1519,loss_of_function,-5.27971170915082,0.32152327067851383,0.9555927576365074,Pathogenic,0.9808,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166P,NP_000240:p.Leu166Pro,,,,,saturation,,2.3602,6.63741,5.701103449727472,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.4159,0.9407,-22.1519,loss_of_function,-5.47290569131649,0.2976732861980157,0.9608230892435004,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166Q,NP_000240:p.Leu166Gln,,,,,saturation,,1.59517,2.37007,2.6692125495413297,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.3533,0.9407,-22.1519,loss_of_function,-4.96046628475601,0.360934427961648,0.8820587741525445,Pathogenic,0.9038,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166R,NP_000240:p.Leu166Arg,,,,,saturation,,2.0789,2.41259,2.906222852811007,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.13,-,-0.4127,0.9407,-22.1519,loss_of_function,-4.65974321901122,0.398058982104285,0.8984363358853414,Pathogenic,0.9523,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166S,NP_000240:p.Leu166Ser,,,,,"saturation,clinvar",,2.53596,2.95748,3.706685879199617,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,836997,Uncertain significance,2,84.13,-,-0.3629,0.9407,-22.1519,loss_of_function,-4.44492966342651,0.42457792389255733,0.931670725745236,Pathogenic,0.963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166T,NP_000240:p.Leu166Thr,,,,,saturation,,2.48419,2.48776,2.8891285173563954,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.3356,0.9407,-22.1519,loss_of_function,-4.89332374481948,0.3692232396395099,0.9640217757341094,Pathogenic,0.9242,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166V,NP_000240:p.Leu166Val,,,,,saturation,,1.81206,2.22823,1.5789211713552556,Uncertain,Neutral,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.13,-,-0.17,0.9407,-7.8641,loss_of_function,-2.25460320857317,0.6949758491792762,0.4038598780625135,Uncertain,0.3124,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166W,NP_000240:p.Leu166Trp,,,,,saturation,,0.63125,0.88231,1.899080455588404,Neutral,Neutral,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.13,-,-0.3651,0.9407,-22.1519,loss_of_function,-3.62296913283688,0.5260497486274179,0.9679390002459174,Pathogenic,0.7492,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L166Y,NP_000240:p.Leu166Tyr,,,,,saturation,,5.86251,1.98673,1.7891070303862224,Uncertain,Uncertain,False,0.075,,,,,,,,,,11.7,,False,11.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.13,-,-0.2902,0.9407,-8.864,loss_of_function,-2.84273929319966,0.622369879088893,0.8360937417309531,Pathogenic,0.856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167A,NP_000240:p.Lys167Ala,,,,,saturation,,0.40087,0.25952,0.153944793855893,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.1191,1.4689,-8.864,loss_of_function,-2.85843647895888,0.6204320462819485,0.3065657614444905,Benign,0.8894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167C,NP_000240:p.Lys167Cys,,,,,saturation,,0.66141,0.87347,0.64314286552717,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.2571,1.4689,-22.1519,loss_of_function,-2.75883417740337,0.6327280470149511,0.8244342967432439,Pathogenic,0.8701,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167D,NP_000240:p.Lys167Asp,,,,,saturation,,0.58628,0.4398,-0.2949385930025572,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.2959,1.4689,-22.1519,loss_of_function,-2.6284448827205,0.6488247319103576,0.7414279394925677,Pathogenic,0.9836,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167E,NP_000240:p.Lys167Glu,,,,,saturation,,0.34332,0.51803,-0.2279530726373868,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.2118,1.4689,-22.1519,loss_of_function,-2.85491868886488,0.6208663208810176,0.4036671680461348,Uncertain,0.9259,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167F,NP_000240:p.Lys167Phe,,,,,saturation,,0.45148,0.73061,-0.0780859244324899,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,68.27,-,-0.258,1.4689,-22.1519,loss_of_function,-5.01018697343289,0.35479636071954124,0.9337703354993778,Pathogenic,0.987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167G,NP_000240:p.Lys167Gly,,,,,saturation,,0.7883,0.56871,0.3692199079628216,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.1783,1.4689,-8.864,loss_of_function,-3.00347546479732,0.602526842804401,0.6804087272228639,Pathogenic,0.815,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167H,NP_000240:p.Lys167His,,,,,saturation,,0.99362,-0.02211,-0.3183906593289204,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.197,1.4689,-22.1519,loss_of_function,-5.01018697343289,0.35479636071954124,0.7863651721172232,Pathogenic,0.6267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167I,NP_000240:p.Lys167Ile,,,,,saturation,,0.77944,0.65374,-0.1175934413726847,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,68.27,-,-0.2252,1.4689,-22.1519,loss_of_function,-4.730963674145,0.38926674784008275,0.9314183641231132,Pathogenic,0.9467,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167L,NP_000240:p.Lys167Leu,,,,,saturation,,0.44266,0.16395,-0.41036176165962,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,68.27,-,-0.1561,1.4689,-8.864,loss_of_function,-4.730963674145,0.38926674784008275,0.8870629621341719,Pathogenic,0.8944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167M,NP_000240:p.Lys167Met,,,,,saturation,,0.45435,0.63061,-0.1382399506093412,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.197,1.4689,-22.1519,loss_of_function,-4.730963674145,0.38926674784008275,0.8551263694316309,Pathogenic,0.8888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167N,NP_000240:p.Lys167Asn,,,,,saturation,,0.42794,0.02381,-0.0920286415338561,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.123,1.4689,-6.0568,loss_of_function,-0.823002193436486,0.8717083830321991,0.0588834297908632,Benign,0.9389,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167P,NP_000240:p.Lys167Pro,,,,,saturation,,0.38155,3.28844,0.3885176313974503,Uncertain,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.3612,1.4689,-22.1519,loss_of_function,-4.06257200177067,0.4717803480792036,0.8525322660127344,Pathogenic,0.9558,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167Q,NP_000240:p.Lys167Gln,,,,,saturation,,0.04984,0.10034,0.0636098316319055,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.1007,1.4689,-5.4047,loss_of_function,-2.7839678487558,0.6296252709089162,0.2442191973863781,Benign,0.4467,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167R,NP_000240:p.Lys167Arg,,,,,"saturation,clinvar",,0.02844,-0.10578,-0.197477691625883,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,643141,Uncertain significance,2,68.27,-,-0.0153,1.4689,-1.5333,loss_of_function,-0.448473617843556,0.9179442989508146,0.0015473246768989,Benign,0.0661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167S,NP_000240:p.Lys167Ser,,,,,saturation,,0.4196,-0.06429,-0.1322971008157308,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.108,1.4689,-4.6943,loss_of_function,-2.14057314336564,0.7090529713288556,0.1099186978653148,Benign,0.9093,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167T,NP_000240:p.Lys167Thr,,,,,saturation,,0.61676,0.12551,-0.0194077314660778,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.2089,1.4689,-22.1519,loss_of_function,-2.70471123487946,0.6394095767642952,0.603777026009709,Uncertain,0.8662,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167V,NP_000240:p.Lys167Val,,,,,saturation,,0.88446,0.53231,0.0627366933297662,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,68.27,-,-0.1413,1.4689,-8.864,loss_of_function,-4.09575349077377,0.46768406107847743,0.8857937933108968,Pathogenic,0.9079,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167W,NP_000240:p.Lys167Trp,,,,,saturation,,0.69086,0.62993,-0.3894546741648197,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,68.27,-,-0.267,1.4689,-22.1519,loss_of_function,-5.01018697343289,0.35479636071954124,0.9177235911016596,Pathogenic,0.9441,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K167Y,NP_000240:p.Lys167Tyr,,,,,saturation,,0.51278,0.39354,-0.0651258314638497,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,88.7,,False,88.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,68.27,-,-0.2429,1.4689,-22.1519,loss_of_function,-5.01018697343289,0.35479636071954124,0.8404564422155134,Pathogenic,0.9537,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168A,NP_000240:p.Asn168Ala,,,,,saturation,,2.16585,1.34558,1.1767594021658985,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.59,-,-0.1299,1.2918,-6.5422,loss_of_function,-2.06484559578167,0.7184016105275398,0.0349265743639074,Benign,0.2333,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168C,NP_000240:p.Asn168Cys,,,,,saturation,,2.00927,1.69966,1.4134276673622208,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.59,-,-0.2595,1.2918,-22.1519,loss_of_function,-2.933987340843,0.6111052191042813,0.621812492225311,Uncertain,0.2154,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168D,NP_000240:p.Asn168Asp,,,,,"saturation,clinvar",,-2.85704,0.32109,0.6979222074554697,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1744878,Uncertain significance,1,88.59,-,-0.2128,1.2918,-22.1519,loss_of_function,-2.20657576519097,0.7009048836474473,0.2810362899790498,Benign,0.647,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168E,NP_000240:p.Asn168Glu,,,,,saturation,,-0.19496,1.16497,1.092428445996263,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2399,1.2918,-22.1519,loss_of_function,-2.98958024364156,0.6042422213332922,0.5839323058733921,Uncertain,0.9039,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168F,NP_000240:p.Asn168Phe,,,,,saturation,,1.18841,0.76803,0.5445760499955843,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2667,1.2918,-22.1519,loss_of_function,-3.90297943325461,0.4914822054540718,0.8075690159774279,Pathogenic,0.4847,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168G,NP_000240:p.Asn168Gly,,,,,saturation,,1.34744,5.59728,1.7514244613495256,Uncertain,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,88.59,-,-0.1594,1.2918,-6.2792,loss_of_function,-2.82005309217694,0.625170512608882,0.0871290310278891,Benign,0.261,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168H,NP_000240:p.Asn168His,,,,,saturation,,1.72719,0.88571,0.543203604584134,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.1468,1.2918,-8.864,loss_of_function,-0.993209487563075,0.8506961274853073,0.2444329351304303,Benign,0.1666,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168I,NP_000240:p.Asn168Ile,,,,,"saturation,clinvar",,1.75312,0.97755,0.7454288223872135,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,525825,Uncertain significance,2,88.59,-,-0.2599,1.2918,-22.1519,loss_of_function,-4.48523510726611,0.4196021777576197,0.81841300715654,Pathogenic,0.1776,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168K,NP_000240:p.Asn168Lys,"hg19,3:g.37050355T>G",,,0.541,"cBioPortal,saturation,clinvar",,1.5146,1.03912,0.965083090797638,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3230784,Uncertain significance,1,88.59,-,-0.1369,1.2918,-7.2792,loss_of_function,-1.11984205300137,0.8350632144588597,0.03434519028569,Benign,0.7402,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168L,NP_000240:p.Asn168Leu,,,,,saturation,,2.00619,1.26395,0.4161059215878793,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2663,1.2918,-22.1519,loss_of_function,-3.98460379186661,0.48140559921455955,0.3268435985989365,Uncertain,0.2019,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168M,NP_000240:p.Asn168Met,,,,,saturation,,1.86888,1.72449,0.7432535703619542,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2204,1.2918,-22.1519,loss_of_function,-4.48523510726611,0.4196021777576197,0.8050789469390025,Pathogenic,0.2318,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168P,NP_000240:p.Asn168Pro,,,,,saturation,,3.43568,6.4534,4.930930342714399,Destabilizing,Destabilizing,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.59,-,-0.3023,1.2918,-7.8641,loss_of_function,-3.39229612991827,0.5545265545714095,0.1914601465904504,Benign,0.7568,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168Q,NP_000240:p.Asn168Gln,,,,,saturation,,1.7882,1.0119,1.0951670030380922,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2036,1.2918,-22.1519,loss_of_function,-2.32503552494091,0.6862809114101711,0.1099451853682913,Benign,0.5423,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168R,NP_000240:p.Asn168Arg,,,,,saturation,,1.19605,0.78469,0.7118352498616983,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.245,1.2918,-22.1519,loss_of_function,-3.31317803708882,0.5642937598691959,0.2902009573632054,Benign,0.8215,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168S,NP_000240:p.Asn168Ser,,,,,"saturation,clinvar",,2.00473,1.3381,1.0916571389172505,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,1171095,Uncertain significance,2,88.59,-,-0.0709,1.2918,-0.8698,loss_of_function,-0.373667972191889,0.9271791284617875,1.69097385548339e-05,Benign,0.0757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168T,NP_000240:p.Asn168Thr,,,,,saturation,,1.76936,1.37789,0.9430497900022428,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.59,-,-0.1613,1.2918,-8.864,loss_of_function,-1.63691202401052,0.7712304250227754,0.0174454699346628,Benign,0.1155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168V,NP_000240:p.Asn168Val,,,,,saturation,,1.99747,0.99014,0.7921926020955428,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2532,1.2918,-22.1519,loss_of_function,-4.48523510726611,0.4196021777576197,0.7413423688110133,Pathogenic,0.194,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168W,NP_000240:p.Asn168Trp,,,,,saturation,,1.74224,1.17517,0.4260641586468561,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.59,-,-0.2718,1.2918,-22.1519,loss_of_function,-3.90297943325461,0.4914822054540718,0.7794011684998097,Pathogenic,0.8573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N168Y,NP_000240:p.Asn168Tyr,,,,,"saturation,clinvar",,1.52152,0.54252,0.6403167007033073,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,65.8,,False,65.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1744880,Uncertain significance,1,88.59,-,-0.1825,1.2918,-8.864,loss_of_function,-3.43633766251747,0.5490895846554028,0.2031962720293991,Benign,0.1823,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169A,NP_000240:p.Pro169Ala,"hg38,3:g.37008865C>G",,,0.448,"COSMIC,saturation",,1.67901,1.02551,-0.0664670330785749,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.85,H,-0.0432,1.999,-2.5423,loss_of_function,-0.107369296195165,0.9600539583012216,0.0010768872634264,Benign,0.0573,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169C,NP_000240:p.Pro169Cys,,,,,saturation,,2.11004,1.59932,0.6311821716977913,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.85,H,-0.176,1.999,-22.1519,loss_of_function,-2.73205580783779,0.6360338627106205,0.9561879156338352,Pathogenic,0.3394,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169D,NP_000240:p.Pro169Asp,,,,,saturation,,1.58677,2.01871,0.4699717792099578,Uncertain,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.85,H,-0.2019,1.999,-22.1519,loss_of_function,-2.50208662187344,0.6644237817689645,0.5703621638756372,Uncertain,0.8069,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169E,NP_000240:p.Pro169Glu,,,,,saturation,,0.73461,1.71939,0.0371964737462249,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.1179,1.999,-8.864,loss_of_function,-2.56166999083052,0.6570681570802848,0.5947752343239455,Uncertain,0.6455,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169F,NP_000240:p.Pro169Phe,,,,,saturation,,1.36948,1.57177,-0.4639346020819618,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.1248,1.999,-6.5422,loss_of_function,-2.17311708257218,0.7050353904688853,0.2160459769312689,Benign,0.3072,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169G,NP_000240:p.Pro169Gly,,,,,saturation,,2.50408,2.32925,1.0208749383838585,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.85,H,-0.0767,1.999,-6.2792,loss_of_function,-2.38218975231302,0.6792251666062219,0.0468080436852508,Benign,0.1842,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169H,NP_000240:p.Pro169His,,,,,saturation,,2.07899,1.45374,-0.4548361776544002,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.101,1.999,-6.2792,loss_of_function,-2.2746527895187,0.6925007089651194,0.1388769605119397,Benign,0.2363,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169I,NP_000240:p.Pro169Ile,,,,,saturation,,1.5159,1.30986,-0.4412187579909615,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.1094,1.999,-6.8642,loss_of_function,-2.04316962649918,0.7210775299593563,0.0669460749042895,Benign,0.1726,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169K,NP_000240:p.Pro169Lys,,,,,saturation,,1.348,1.37857,-0.1702843088069339,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.1096,1.999,-8.864,loss_of_function,-2.52346172989677,0.6617850039514017,0.320362184859725,Benign,0.6224,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169L,NP_000240:p.Pro169Leu,,,,,"saturation,clinvar",,1.45597,1.83231,-0.6375356162155166,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90251,Uncertain significance,2,91.85,H,-0.192,1.999,-22.1519,loss_of_function,-2.668855450464,0.643836008127522,0.5274736058743635,Uncertain,0.1191,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169M,NP_000240:p.Pro169Met,,,,,saturation,,1.13651,1.64932,-0.2732486926106381,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.143,1.999,-22.1519,loss_of_function,-3.41031326306035,0.5523023220098943,0.5045312330054602,Uncertain,0.2122,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169N,NP_000240:p.Pro169Asn,,,,,saturation,,2.40299,2.07449,0.0750212428680002,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.85,H,-0.1022,1.999,-8.864,loss_of_function,-2.83284382743874,0.62359148393486,0.6192256743476555,Uncertain,0.3222,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169Q,NP_000240:p.Pro169Gln,,,,,"saturation,clinvar",,1.27457,1.61599,-0.0155925883266666,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,573608,Uncertain significance,1,91.85,H,-0.0988,1.999,-7.8641,loss_of_function,-2.34695200600343,0.6835753005658333,0.550692153469893,Uncertain,0.2212,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169R,NP_000240:p.Pro169Arg,,,,,"saturation,clinvar",,2.08812,2.01599,-0.5084486140960426,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1357834,Uncertain significance,1,91.85,H,-0.2131,1.999,-22.1519,loss_of_function,-1.16758719708296,0.8291690301131559,0.6068315297616166,Uncertain,0.4604,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169S,NP_000240:p.Pro169Ser,"hg19,3:g.37050356C>T, hg38,3:g.37008865C>T",,,0.450,"cBioPortal,COSMIC,saturation",,2.55917,1.47211,0.2213905592157428,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.85,H,-0.0461,1.999,-3.1637,loss_of_function,-0.772252298483289,0.8779735067873621,0.0808288015986872,Benign,0.097,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169T,NP_000240:p.Pro169Thr,,,,,"saturation,clinvar",,2.21609,1.26463,-0.0746172220356933,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1745084,Uncertain significance,1,91.85,H,-0.0643,1.999,-4.3406,loss_of_function,-1.53525303050706,0.7837803263715732,0.0097356382293705,Benign,0.0834,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169V,NP_000240:p.Pro169Val,,,,,saturation,,1.74781,1.2966,-0.3099782709794624,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.0618,1.999,-6.2792,loss_of_function,-1.38767075793229,0.8019995010634978,0.111941148321753,Benign,0.1251,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169W,NP_000240:p.Pro169Trp,,,,,saturation,,1.92436,0.98061,-0.6841513343237754,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.2169,1.999,-22.1519,loss_of_function,-3.23042500708165,0.5745097016871596,0.9387985553099616,Pathogenic,0.6242,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P169Y,NP_000240:p.Pro169Tyr,,,,,saturation,,1.50325,1.35646,-0.3142305992088973,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,40.1,,False,40.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.85,H,-0.1244,1.999,-6.2792,loss_of_function,-1.73236611991475,0.7594465243008387,0.064770375549133,Benign,0.3748,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170A,NP_000240:p.Ser170Ala,,,,,saturation,,0.04928,-0.07721,-0.2140233690404824,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,-,uncertain,uncertain,neutral,,,,92.41,H,-0.0165,1.7992,-2.9542,loss_of_function,-0.417951751572909,0.9217122529456059,0.000293141723177,Benign,0.063,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170C,NP_000240:p.Ser170Cys,,,,,saturation,,0.71529,0.79286,0.7781969027698257,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.0891,1.7992,-7.2761,loss_of_function,-0.382807538958751,0.9260508400797963,0.8484175227968844,Pathogenic,0.1125,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170D,NP_000240:p.Ser170Asp,,,,,saturation,,-0.39405,-0.87381,-0.1496189012864546,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.2132,1.7992,-22.1488,loss_of_function,-2.47639559578025,0.6675953638583342,0.7434338845542758,Pathogenic,0.8446,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170E,NP_000240:p.Ser170Glu,,,,,saturation,,-1.17524,-1.28401,-0.4156706071868332,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1863,1.7992,-22.1488,loss_of_function,-2.47639559578025,0.6675953638583342,0.5374962476750921,Uncertain,0.9022,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170F,NP_000240:p.Ser170Phe,,,,,saturation,,-0.32023,0.12823,-0.526717344148388,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1925,1.7992,-22.1488,loss_of_function,-3.07414727058394,0.5938023398342502,0.612229911878962,Uncertain,0.3157,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170G,NP_000240:p.Ser170Gly,,,,,"saturation,clinvar",,0.62615,0.44184,0.540693897759642,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,DOWN,neutral,neutral,neutral,483587,Uncertain significance,2,92.41,H,-0.0305,1.7992,-3.9069,loss_of_function,-0.773094839675597,0.8778694942599764,0.002164210587627,Benign,0.0576,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170H,NP_000240:p.Ser170His,,,,,saturation,,0.31309,-0.12551,-0.5202349922886135,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1259,1.7992,-8.8609,loss_of_function,-2.19964115754149,0.7017609676877702,0.2227616229103429,Benign,0.5789,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170I,NP_000240:p.Ser170Ile,,,,,saturation,,-0.0969,-0.22109,-0.4306024970604805,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1279,1.7992,-8.8609,loss_of_function,-2.16071782186373,0.7065660912295983,0.5499733089707642,Uncertain,0.1689,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170K,NP_000240:p.Ser170Lys,,,,,saturation,,0.14386,-0.20476,-0.2938636466950883,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.2031,1.7992,-22.1488,loss_of_function,-2.30651971007116,0.6885667067146471,0.298666201905528,Benign,0.9192,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170L,NP_000240:p.Ser170Leu,,,,,saturation,,-0.16145,-0.18537,-0.8390765929272503,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1241,1.7992,-8.8609,loss_of_function,-2.19475277855912,0.7023644428144661,0.1963649510439274,Benign,0.1026,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170M,NP_000240:p.Ser170Met,,,,,saturation,,-0.45165,-0.16565,-0.4254892441290192,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.163,1.7992,-22.1488,loss_of_function,-2.66540921017288,0.6442614498340281,0.4968290733557458,Uncertain,0.1576,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170N,NP_000240:p.Ser170Asn,"hg19,3:g.37050360G>A",,,0.425,"cBioPortal,saturation,clinvar",,0.21237,-0.30816,-0.1857073843831846,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,631091,Uncertain significance,2,92.41,H,-0.0416,1.7992,-3.5035,loss_of_function,-0.407517700939753,0.9230003466164332,0.002483958890466,Benign,0.1359,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170P,NP_000240:p.Ser170Pro,,,,,saturation,,-0.44443,4.05408,2.696360644052461,Uncertain,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.2001,1.7992,-8.8609,loss_of_function,-2.70849242197984,0.6389427855493152,0.302696977088461,Benign,0.3425,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170Q,NP_000240:p.Ser170Gln,,,,,saturation,,-0.21663,0.03673,-0.0956395652161556,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.0835,1.7992,-7.861,loss_of_function,-1.90997309875329,0.7375207704991759,0.0792759024209513,Benign,0.6625,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170R,NP_000240:p.Ser170Arg,,,,,saturation,,0.30046,0.16361,-0.4379493878167917,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.2083,1.7992,-22.1488,loss_of_function,-2.06108007498716,0.718866467721865,0.280278456411177,Benign,0.9054,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170T,NP_000240:p.Ser170Thr,,,,,"saturation,clinvar",,0.08193,-0.11837,-0.1445762545091838,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,neutral,,,UP,neutral,neutral,neutral,419110,Uncertain significance,2,92.41,H,-0.0146,1.7992,-4.4017,loss_of_function,-0.462406281831003,0.9162242980680354,0.0066359921515782,Benign,0.0742,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170V,NP_000240:p.Ser170Val,,,,,saturation,,0.41632,-0.32721,-0.3451874127319554,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.0903,1.7992,-6.5391,loss_of_function,-2.16633844792784,0.7058722194904427,0.1614040341810514,Benign,0.133,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170W,NP_000240:p.Ser170Trp,,,,,saturation,,-0.07021,0.21259,-1.0381777719901113,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.2022,1.7992,-22.1488,loss_of_function,-3.07414727058394,0.5938023398342502,0.8758568772705683,Pathogenic,0.6535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S170Y,NP_000240:p.Ser170Tyr,,,,,saturation,,-0.23202,-0.06327,-0.4508211129199285,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,94.2,,False,94.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.41,H,-0.1973,1.7992,-22.1488,loss_of_function,-2.77059777898947,0.6312758189894289,0.1561493411105742,Benign,0.4179,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171A,NP_000240:p.Glu171Ala,,,,,saturation,,0.13831,-0.18673,0.3169651522552447,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.1756,0.8342,-8.8609,loss_of_function,-3.32946203245293,0.562283484847371,0.6247034224585062,Uncertain,0.6682,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171C,NP_000240:p.Glu171Cys,,,,,saturation,,0.90115,0.92041,1.189561441606372,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.3128,0.8342,-22.1488,loss_of_function,-4.09560267130197,0.4677026798885536,0.9871592846267268,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171D,NP_000240:p.Glu171Asp,,,,,"saturation,clinvar",,0.03177,0.13129,0.3473580683191324,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,947609,Uncertain significance,2,93.23,H,-0.107,0.8342,-2.1332,loss_of_function,-0.489173788213139,0.9129198234428986,0.0086837861035623,Benign,0.1463,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171F,NP_000240:p.Glu171Phe,,,,,saturation,,0.34223,0.57721,0.1737981449815218,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2904,0.8342,-22.1488,loss_of_function,-5.15521904400505,0.3368920109383233,0.9797020793794452,Pathogenic,0.9827,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171G,NP_000240:p.Glu171Gly,,,,,saturation,,0.91426,0.94694,1.1136328535882456,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.2692,0.8342,-22.1488,loss_of_function,-4.23526995055632,0.45046061879892224,0.9062864959928552,Pathogenic,0.6958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171H,NP_000240:p.Glu171His,,,,,saturation,,0.77867,0.42449,0.2297796744693198,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2817,0.8342,-22.1488,loss_of_function,-5.15521904400505,0.3368920109383233,0.9319439034565244,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171I,NP_000240:p.Glu171Ile,,,,,saturation,,0.09159,0.13946,0.1141081671190236,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2958,0.8342,-22.1488,loss_of_function,-3.2709952567644,0.5695012650140453,0.8341458838778852,Pathogenic,0.8736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171K,NP_000240:p.Glu171Lys,,,,,"saturation,clinvar",,0.21953,0.18673,0.3248967959751125,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2167751,Uncertain significance,1,93.23,H,-0.2654,0.8342,-22.1488,loss_of_function,-4.87089818369774,0.3719916969109239,0.8869495421391247,Pathogenic,0.8726,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171L,NP_000240:p.Glu171Leu,,,,,saturation,,-0.01298,-0.03946,-0.0889250488923282,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.225,0.8342,-7.861,loss_of_function,-4.32217398052916,0.43973223200907063,0.8984270546752394,Pathogenic,0.8828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171M,NP_000240:p.Glu171Met,,,,,saturation,,-0.08365,0.64694,0.2968342208139257,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2467,0.8342,-22.1488,loss_of_function,-4.32217398052916,0.43973223200907063,0.961109158519284,Pathogenic,0.9213,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171N,NP_000240:p.Glu171Asn,,,,,saturation,,0.69991,0.14286,0.545753501010855,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.2696,0.8342,-22.1488,loss_of_function,-2.36899751318498,0.6808537613219567,0.7793728461789627,Pathogenic,0.8056,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171P,NP_000240:p.Glu171Pro,,,,,saturation,,1.71136,5.60816,3.2910959927117323,Uncertain,Uncertain,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.4004,0.8342,-22.1488,loss_of_function,-5.15521904400505,0.3368920109383233,0.9903048808808484,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171Q,NP_000240:p.Glu171Gln,,,,,saturation,,-0.02985,0.08707,0.4646539936638999,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2159,0.8342,-22.1488,loss_of_function,-2.80682523043958,0.6268035049702882,0.8705705555993964,Pathogenic,0.7158,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171R,NP_000240:p.Glu171Arg,,,,,saturation,,0.32185,0.43844,0.1626528270980792,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.3259,0.8342,-22.1488,loss_of_function,-4.61009400849494,0.4041882252981378,0.9130235110818624,Pathogenic,0.9241,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171S,NP_000240:p.Glu171Ser,,,,,saturation,,0.30645,0.54388,0.6361837080718619,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.2569,0.8342,-22.1488,loss_of_function,-4.00215638454565,0.4792387146237724,0.8666566095895593,Pathogenic,0.7341,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171T,NP_000240:p.Glu171Thr,,,,,saturation,,0.43087,0.5119,0.4735107372154529,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.23,H,-0.2728,0.8342,-22.1488,loss_of_function,-3.71166438765807,0.5151002333926981,0.8012315467070394,Pathogenic,0.7973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171V,NP_000240:p.Glu171Val,,,,,saturation,,0.47541,0.08299,0.2069787482415941,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.23,H,-0.2566,0.8342,-22.1488,loss_of_function,-3.45544915824813,0.5467302519708864,0.8719439308405328,Pathogenic,0.7277,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171W,NP_000240:p.Glu171Trp,,,,,saturation,,0.48899,0.62381,-0.2533582882655188,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.3005,0.8342,-22.1488,loss_of_function,-5.15521904400505,0.3368920109383233,0.9833318382578748,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E171Y,NP_000240:p.Glu171Tyr,,,,,saturation,,0.37629,0.44728,0.2714839395353768,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,66.1,,False,66.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.23,H,-0.2913,0.8342,-22.1488,loss_of_function,-5.15521904400505,0.3368920109383233,0.907173958619433,Pathogenic,0.9685,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172A,NP_000240:p.Glu172Ala,,,,,saturation,,1.67376,0.86395,1.0892691448882856,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.2256,0.291,-8.8609,loss_of_function,-5.02223817513467,0.3533086281807899,0.931953189521894,Pathogenic,0.8711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172C,NP_000240:p.Glu172Cys,,,,,saturation,,1.61139,0.73435,1.581908396250952,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.3628,0.291,-22.1488,loss_of_function,-4.97807472568954,0.35876064884967585,0.9096663306834294,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172D,NP_000240:p.Glu172Asp,,,,,saturation,,2.37866,1.25612,1.916166661864035,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.1795,0.291,-6.5391,loss_of_function,-2.80128642839233,0.6274872754552,0.519058852045129,Uncertain,0.8891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172F,NP_000240:p.Glu172Phe,,,,,saturation,,1.6115,-0.28605,0.5828549931783028,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3404,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9778175509592048,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172G,NP_000240:p.Glu172Gly,,,,,saturation,,3.28578,2.77721,2.9767128929536835,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.3192,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9770740414500828,Pathogenic,0.9423,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172H,NP_000240:p.Glu172His,,,,,saturation,,2.19003,1.17517,1.34786468682027,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3317,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9762778704426216,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172I,NP_000240:p.Glu172Ile,,,,,saturation,,-1.37428,-1.05476,-0.2114321875866437,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3457,0.291,-22.1488,loss_of_function,-5.76017331298623,0.262209819677109,0.9754458556893222,Pathogenic,0.9753,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172K,NP_000240:p.Glu172Lys,"hg19,3:g.37050365G>A, hg38,3:g.37008874G>A",,,0.876,"cBioPortal,COSMIC,saturation,clinvar",,1.8802,3.11054,2.6151242807052366,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3230786,Likely pathogenic,1,93.77,H,-0.3154,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.978080847460436,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172L,NP_000240:p.Glu172Leu,,,,,saturation,,-1.47858,-0.86395,-0.5130913453646624,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.2801,0.291,-8.8609,loss_of_function,-4.94670736255048,0.36263298025293456,0.9221950423114188,Pathogenic,0.9896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172M,NP_000240:p.Glu172Met,,,,,saturation,,-1.32511,-0.30442,0.1694759299358833,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.2967,0.291,-22.1488,loss_of_function,-5.76017331298623,0.262209819677109,0.9800823389763323,Pathogenic,0.9825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172N,NP_000240:p.Glu172Asn,,,,,saturation,,2.13776,1.20306,1.2509274853736814,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.3196,0.291,-22.1488,loss_of_function,-3.58672887244531,0.5305236439228055,0.9757793879776444,Pathogenic,0.9694,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172P,NP_000240:p.Glu172Pro,,,,,saturation,,0.9602,7.83776,5.940697711625426,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.4504,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9816378765079996,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172Q,NP_000240:p.Glu172Gln,,,,,saturation,,0.92491,0.61633,1.1466701958954906,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.1805,0.291,-5.4016,loss_of_function,-1.9993412937154,0.7264881801513633,0.0901516718305774,Benign,0.9026,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172R,NP_000240:p.Glu172Arg,,,,,saturation,,2.32318,2.9483,1.805050317251489,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3759,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9490058996781578,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172S,NP_000240:p.Glu172Ser,,,,,saturation,,1.9189,1.65782,2.029040910535532,Neutral,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.3069,0.291,-22.1488,loss_of_function,-5.3854468538499,0.3084701645110879,0.976122052202087,Pathogenic,0.9427,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172T,NP_000240:p.Glu172Thr,,,,,saturation,,1.21257,0.76224,1.129167783721229,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.77,H,-0.3227,0.291,-22.1488,loss_of_function,-5.3854468538499,0.3084701645110879,0.9615035028899886,Pathogenic,0.9605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172V,NP_000240:p.Glu172Val,,,,,saturation,,-0.17026,-0.39966,0.2380838888458469,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.77,H,-0.3066,0.291,-22.1488,loss_of_function,-5.76017331298623,0.262209819677109,0.9806355477274368,Pathogenic,0.9369,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172W,NP_000240:p.Glu172Trp,,,,,saturation,,1.99022,0.80612,1.0451705119968424,Neutral,Neutral,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3505,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.980613142268105,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E172Y,NP_000240:p.Glu172Tyr,,,,,saturation,,3.4639,-0.0932,1.4300932352323938,Uncertain,Uncertain,False,0.007,,,,,,,,,,3.8,,False,3.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.77,H,-0.3412,0.291,-22.1488,loss_of_function,-5.96750749763532,0.23661421348520856,0.9760745947674612,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173A,NP_000240:p.Tyr173Ala,,,,,saturation,,3.37692,3.47211,3.4974741807781418,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3509,1.0937,-22.1488,loss_of_function,-3.43731469803539,0.5489689686730721,0.647529589627045,Uncertain,0.8394,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173C,NP_000240:p.Tyr173Cys,,,,,"saturation,clinvar",,3.86615,3.97721,4.143202974133649,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,1305653,Uncertain significance,1,95.26,H,-0.2538,1.0937,-8.8609,loss_of_function,-3.97153828436548,0.48301854878803313,0.8049597559886619,Pathogenic,0.3743,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173D,NP_000240:p.Tyr173Asp,,,,,saturation,,4.28091,3.82789,4.443994716602731,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3651,1.0937,-22.1488,loss_of_function,-4.97392225664709,0.359273275180517,0.9269608087076584,Pathogenic,0.9022,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173E,NP_000240:p.Tyr173Glu,,,,,saturation,,3.75668,4.08095,4.006383432870787,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3939,1.0937,-22.1488,loss_of_function,-4.97392225664709,0.359273275180517,0.6367281310827337,Uncertain,0.9413,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173F,NP_000240:p.Tyr173Phe,,,,,saturation,,0.46299,0.4898,0.4530105905457837,Neutral,Neutral,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.26,H,-0.0916,1.0937,-3.1607,loss_of_function,-1.0722571345855,0.8409376187907246,0.0016160546705787,Benign,0.1642,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173G,NP_000240:p.Tyr173Gly,,,,,saturation,,4.46608,4.94762,4.793580243364968,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.4215,1.0937,-22.1488,loss_of_function,-4.18299271451165,0.4569142942932216,0.5559620060370034,Uncertain,0.7637,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173H,NP_000240:p.Tyr173His,,,,,"saturation,clinvar",,3.19602,1.45272,2.4715979016936784,Uncertain,Uncertain,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,1462181,Uncertain significance,1,95.26,H,-0.1633,1.0937,-3.4688,loss_of_function,-0.477124874367692,0.9144072735435665,4.0583509507244223e-05,Benign,0.2959,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173I,NP_000240:p.Tyr173Ile,,,,,saturation,,3.49307,2.83844,2.434744983591116,Uncertain,Uncertain,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.363,1.0937,-22.1488,loss_of_function,-3.87269358696036,0.49522102255385714,0.5311863264611836,Uncertain,0.8573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173K,NP_000240:p.Tyr173Lys,,,,,saturation,,3.21775,3.68844,4.051503444071206,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.4191,1.0937,-22.1488,loss_of_function,-4.65000736609895,0.3992608825892749,0.822504599348556,Pathogenic,0.9278,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173L,NP_000240:p.Tyr173Leu,,,,,saturation,,1.64024,1.74218,1.8533476186480025,Neutral,Neutral,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.2621,1.0937,-6.8611,loss_of_function,-2.60912192402147,0.6512101699034208,0.0455192756518485,Benign,0.663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173M,NP_000240:p.Tyr173Met,,,,,saturation,,0.42939,1.81361,2.101079107374954,Neutral,Uncertain,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.2922,1.0937,-22.1488,loss_of_function,-3.44921950657322,0.5474993085123997,0.28025280039548,Benign,0.8093,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173N,NP_000240:p.Tyr173Asn,,,,,saturation,,3.70936,3.80816,3.701024168657768,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3441,1.0937,-22.1488,loss_of_function,-4.86195412727742,0.3730958493510057,0.7252262769510027,Pathogenic,0.5089,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173P,NP_000240:p.Tyr173Pro,,,,,saturation,,8.59855,14.37211,9.01798545299378,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.4751,1.0937,-22.1488,loss_of_function,-5.51317287715329,0.2927022630506308,0.9425155454754476,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173Q,NP_000240:p.Tyr173Gln,,,,,saturation,,2.94488,3.21735,3.5050161468219114,Uncertain,Uncertain,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3687,1.0937,-22.1488,loss_of_function,-4.70232056173186,0.39280276784892926,0.3696752502333096,Uncertain,0.8034,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173R,NP_000240:p.Tyr173Arg,,,,,saturation,,3.81366,3.8534,3.165318265891549,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.4145,1.0937,-22.1488,loss_of_function,-4.23178640725452,0.45089066559827756,0.7061256933523771,Pathogenic,0.8347,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173S,NP_000240:p.Tyr173Ser,,,,,saturation,,3.7149,4.14694,4.2671888590277325,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3557,1.0937,-22.1488,loss_of_function,-3.96562874682188,0.48374808692955207,0.5852157677648525,Uncertain,0.6586,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173T,NP_000240:p.Tyr173Thr,,,,,saturation,,4.06996,3.06361,3.7541990518144313,Destabilizing,Destabilizing,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3014,1.0937,-7.861,loss_of_function,-3.73497477395256,0.5122225435955011,0.6127415356399493,Uncertain,0.8493,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173V,NP_000240:p.Tyr173Val,,,,,saturation,,3.98856,2.85714,2.916606860259055,Uncertain,Uncertain,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.26,H,-0.3525,1.0937,-22.1488,loss_of_function,-4.3398172825993,0.4375541492559716,0.6188279939240969,Uncertain,0.7949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y173W,NP_000240:p.Tyr173Trp,,,,,saturation,,-0.14328,1.22517,0.9475334823941712,Neutral,Neutral,False,0.026,,,,,,,,,,10.7,,True,10.7,,uncertain,,,UP,neutral,neutral,neutral,,,,95.26,H,-0.1956,1.0937,-7.861,loss_of_function,-2.19651520992924,0.7021468689524125,0.580974258737319,Uncertain,0.5853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174A,NP_000240:p.Gly174Ala,,,,,saturation,,-0.90892,-1.13333,-0.5707672893519317,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.0273,2.7496,-1.9907,loss_of_function,0.0157528002084132,0.9752535005204696,6.433467625427448e-06,Benign,0.0861,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174C,NP_000240:p.Gly174Cys,,,,,saturation,,-0.23098,-0.41497,0.1097445661823803,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.117,2.7496,-7.861,loss_of_function,-1.63565357717598,0.7713857815050885,0.1527354998592992,Benign,0.1293,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174D,NP_000240:p.Gly174Asp,,,,,saturation,,-0.50549,-0.54932,-0.4099750681347464,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1905,2.7496,-22.1488,loss_of_function,-2.29332827475134,0.6901952021994775,0.0402140410152888,Benign,0.7598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174E,NP_000240:p.Gly174Glu,"hg19,3:g.37050372G>A",,,0.380,"cBioPortal,saturation",,-0.9251,-0.93333,-0.6992952911876765,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1898,2.7496,-22.1488,loss_of_function,-2.29332827475134,0.6901952021994775,0.2296325944381905,Benign,0.6416,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174F,NP_000240:p.Gly174Phe,,,,,saturation,,-1.27846,-0.92823,-1.093627240437373,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.2281,2.7496,-22.1488,loss_of_function,-2.93478232115701,0.6110070780134517,0.0493884712293109,Benign,0.5428,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174H,NP_000240:p.Gly174His,,,,,saturation,,-0.5584,-0.82449,-0.961430189015387,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1218,2.7496,-6.2761,loss_of_function,-2.01174762721668,0.7249566062475152,0.0026194955678787,Benign,0.5715,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174I,NP_000240:p.Gly174Ile,,,,,saturation,,-1.22472,-1.18333,-0.922914839803114,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.2008,2.7496,-7.861,loss_of_function,-2.11029224192894,0.7127911779811802,0.015501353949718,Benign,0.1972,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174K,NP_000240:p.Gly174Lys,,,,,saturation,,-1.16674,-1.46701,-0.8136334265339612,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1431,2.7496,-6.5391,loss_of_function,-1.81432982709656,0.7493280251512434,0.00542041092357,Benign,0.8283,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174L,NP_000240:p.Gly174Leu,,,,,saturation,,-1.37123,-1.44592,-1.3821717480589302,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.169,2.7496,-7.861,loss_of_function,-2.09320223937811,0.7149009553719659,0.0019598758061999,Benign,0.2388,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174M,NP_000240:p.Gly174Met,,,,,saturation,,-1.91673,-0.9585,-0.951454042215052,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1124,2.7496,-8.8609,loss_of_function,-1.9508535723254,0.7324740363860286,0.0163642958218534,Benign,0.3174,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174N,NP_000240:p.Gly174Asn,,,,,saturation,,-0.74043,-1.03673,-0.577414404422652,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.0896,2.7496,-2.3219,loss_of_function,-0.69355688158094,0.8876885323319872,1.5246523523538874e-05,Benign,0.2465,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174P,NP_000240:p.Gly174Pro,,,,,saturation,,2.00713,6.36259,5.78681829624972,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.2201,2.7496,-8.8609,loss_of_function,-2.06823203904153,0.7179835508225408,0.0190324366086507,Benign,0.8254,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174Q,NP_000240:p.Gly174Gln,,,,,saturation,,-1.21949,-1.13435,-0.4712354528049323,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1042,2.7496,-4.6132,loss_of_function,-0.951336486857941,0.8558653900356953,3.612827586643792e-05,Benign,0.4868,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174R,NP_000240:p.Gly174Arg,,,,,"saturation,clinvar",,-1.06909,-0.81905,-1.1651794566357687,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,951805,Uncertain significance,2,94.15,H,-0.1236,2.7496,-5.8611,loss_of_function,-1.74838465777117,0.75746902026581,0.0041882232756522,Benign,0.6985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174S,NP_000240:p.Gly174Ser,,,,,saturation,,-0.69844,-0.62347,-0.1804251065172812,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.0352,2.7496,-2.3854,loss_of_function,-0.121828212756254,0.9582689910278047,3.857402009135078e-05,Benign,0.0783,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174T,NP_000240:p.Gly174Thr,,,,,saturation,,-0.10928,-0.8398,-0.4168130328038288,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1207,2.7496,-4.0537,loss_of_function,-0.812707202972208,0.8729793095903016,0.0002833653921384,Benign,0.1041,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174V,NP_000240:p.Gly174Val,,,,,saturation,,-0.51994,-1.17959,-0.7648886191221599,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.1411,2.7496,-7.2761,loss_of_function,-1.91580984218114,0.7368002188618504,0.0026289053527723,Benign,0.117,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174W,NP_000240:p.Gly174Trp,,,,,"saturation,clinvar",,-1.11198,-0.84422,-1.5739980513536544,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,1378487,Uncertain significance,2,94.15,H,-0.2278,2.7496,-22.1488,loss_of_function,-2.93478232115701,0.6110070780134517,0.397113892886317,Uncertain,0.5541,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G174Y,NP_000240:p.Gly174Tyr,,,,,saturation,,-1.65484,-1.11939,-0.892103733890835,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,78.8,,True,78.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,94.15,H,-0.2284,2.7496,-22.1488,loss_of_function,-2.60291412976918,0.6519765281249117,0.0610281327104207,Benign,0.5,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175A,NP_000240:p.Lys175Ala,,,,,saturation,,-0.22573,0.45544,0.7619609645859265,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.1413,1.2273,-8.8547,loss_of_function,-3.50837832956831,0.5401960944345021,0.6818705210221135,Pathogenic,0.8738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175C,NP_000240:p.Lys175Cys,,,,,saturation,,0.78392,1.17517,1.4420527604701487,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2793,1.2273,-22.1426,loss_of_function,-4.43342227926235,0.4259985216288315,0.9801679415506244,Pathogenic,0.8174,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175D,NP_000240:p.Lys175Asp,,,,,saturation,,1.1134,1.50034,1.3480909463304207,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.3181,1.2273,-22.1426,loss_of_function,-4.43342227926235,0.4259985216288315,0.8452416798864999,Pathogenic,0.9716,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175E,NP_000240:p.Lys175Glu,,,,,"saturation,clinvar",,0.54175,0.99966,0.7921353607338657,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2107723,Uncertain significance,1,93.51,H,-0.234,1.2273,-22.1426,loss_of_function,-4.43342227926235,0.4259985216288315,0.8990889323046143,Pathogenic,0.8477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175F,NP_000240:p.Lys175Phe,,,,,saturation,,-0.10908,0.49218,0.0988756741529217,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,93.51,H,-0.2802,1.2273,-22.1426,loss_of_function,-3.34887055297192,0.5598874841646458,0.7364376567862572,Pathogenic,0.9584,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175G,NP_000240:p.Lys175Gly,,,,,saturation,,0.94573,2.04286,1.5591922854690257,Uncertain,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2683,1.2273,-22.1426,loss_of_function,-5.1315576211065,0.3398130365447679,0.8318632314182757,Pathogenic,0.8874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175H,NP_000240:p.Lys175His,,,,,saturation,,-0.33142,0.57279,0.50890378951053,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.1309,1.2273,-4.8549,loss_of_function,-2.4182461595242,0.6747739681642759,0.4140840761074434,Uncertain,0.4608,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175I,NP_000240:p.Lys175Ile,,,,,"saturation,clinvar",,-0.2997,0.61599,0.3062673648434305,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,455441,Uncertain significance,1,93.51,H,-0.1796,1.2273,-8.8547,loss_of_function,-3.51871059615691,0.5389205661026973,0.7699169685612146,Pathogenic,0.8333,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175L,NP_000240:p.Lys175Leu,,,,,saturation,,-0.24624,0.11054,0.0607549024613518,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.51,H,-0.1783,1.2273,-8.8547,loss_of_function,-3.23785154811129,0.5735928879939214,0.1066986271654679,Benign,0.7433,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175M,NP_000240:p.Lys175Met,,,,,saturation,,-1.02404,0.35714,0.3916033414800407,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2191,1.2273,-22.1426,loss_of_function,-3.47058852733118,0.544861282173651,0.8754837405707252,Pathogenic,0.7089,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175N,NP_000240:p.Lys175Asn,,,,,saturation,,-0.22274,0.68673,1.022109838422094,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2273,1.2273,-22.1426,loss_of_function,-3.81403479839492,0.5024625068964226,0.728968229002779,Pathogenic,0.8916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175P,NP_000240:p.Lys175Pro,,,,,saturation,,1.20718,7.81156,6.065881138332632,Uncertain,Uncertain,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.3834,1.2273,-22.1426,loss_of_function,-5.1315576211065,0.3398130365447679,0.9451577718853362,Pathogenic,0.9867,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175Q,NP_000240:p.Lys175Gln,,,,,saturation,,-0.07595,0.62517,0.8251219558767644,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2083,1.2273,-22.1426,loss_of_function,-3.9299940580236,0.4881472238243936,0.8092473142137137,Pathogenic,0.4398,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175R,NP_000240:p.Lys175Arg,,,,,saturation,,-0.14202,0.64762,0.3950841812563826,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.51,H,-0.037,1.2273,-1.4286,loss_of_function,-0.443861116527104,0.9185137167120745,0.0031846349077205,Benign,0.0664,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175S,NP_000240:p.Lys175Ser,,,,,saturation,,0.75173,1.37551,1.2828070722708875,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2192,1.2273,-22.1426,loss_of_function,-3.92171764711943,0.4891689547779458,0.7879427082112229,Pathogenic,0.9188,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175T,NP_000240:p.Lys175Thr,,,,,saturation,,0.7306,1.22959,1.1090179291459803,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2311,1.2273,-22.1426,loss_of_function,-4.43342227926235,0.4259985216288315,0.9475996695790831,Pathogenic,0.8063,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175V,NP_000240:p.Lys175Val,,,,,saturation,,0.30396,1.01667,0.6372728745402431,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.51,H,-0.2313,1.2273,-22.1426,loss_of_function,-4.28189087705058,0.4447052202047721,0.8811365079110054,Pathogenic,0.7968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175W,NP_000240:p.Lys175Trp,,,,,saturation,,-0.16494,0.36701,-0.1648624345908739,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,93.51,H,-0.2892,1.2273,-22.1426,loss_of_function,-4.01172458335262,0.47805751120069234,0.9349961452944796,Pathogenic,0.9026,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K175Y,NP_000240:p.Lys175Tyr,,,,,saturation,,0.09138,0.03571,0.2875228039745214,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,93.51,H,-0.1972,1.2273,-8.8547,loss_of_function,-2.74106772530259,0.634921332758778,0.8073076985795238,Pathogenic,0.8794,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176A,NP_000240:p.Ile176Ala,,,,,saturation,,3.55266,2.89898,3.7134862031961,Uncertain,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.2942,0.5643,-6.536,loss_of_function,-3.51800843561638,0.5390072485024633,0.1663491584497213,Benign,0.9002,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176C,NP_000240:p.Ile176Cys,,,,,saturation,,3.61877,2.76599,3.412731457431575,Uncertain,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.281,0.5643,-7.8579,loss_of_function,-3.53792388376405,0.5365486671122999,0.2983745592025116,Benign,0.9213,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176D,NP_000240:p.Ile176Asp,,,,,saturation,,5.58169,5.12483,4.796168103662255,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.4979,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9398952100753026,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176E,NP_000240:p.Ile176Glu,,,,,saturation,,6.03442,5.28776,4.321778512493227,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.4788,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9534086750451688,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176F,NP_000240:p.Ile176Phe,,,,,"saturation,clinvar",,9.59504,5.07143,2.8814971938822977,Destabilizing,Uncertain,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455442,Uncertain significance,2,95.39,H,-0.3349,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9609042937771402,Pathogenic,0.9025,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176G,NP_000240:p.Ile176Gly,,,,,saturation,,5.5867,5.2449,5.605583350843273,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.4646,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9485893890058904,Pathogenic,0.9882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176H,NP_000240:p.Ile176His,,,,,saturation,,7.03768,4.84422,3.634824201925433,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.4645,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9410140910481964,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176K,NP_000240:p.Ile176Lys,,,,,saturation,,5.79137,8.1881,5.961188533919992,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.39,H,-0.4714,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9354757841251072,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176L,NP_000240:p.Ile176Leu,,,,,"saturation,clinvar",,1.08094,3.04966,0.9020654725663064,Uncertain,Neutral,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1327184,Uncertain significance,2,95.39,H,-0.176,0.5643,-5.858,loss_of_function,-1.91649610239091,0.7367154993733388,0.0564609816063812,Benign,0.4189,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176M,NP_000240:p.Ile176Met,"hg19,3:g.37050379T>G, hg38,3:g.37008888T>G",,,0.785,"cBioPortal,COSMIC,saturation",,1.97445,4.75612,2.102328558552138,Uncertain,Uncertain,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.39,H,-0.2647,0.5643,-22.1457,loss_of_function,-3.22968084101689,0.5746015697096336,0.7591782575514561,Pathogenic,0.4115,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176N,NP_000240:p.Ile176Asn,,,,,"saturation,clinvar",,4.25521,3.38401,3.4960788613820646,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1746560,Uncertain significance,1,95.39,H,-0.411,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9274785417560916,Pathogenic,0.9705,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176P,NP_000240:p.Ile176Pro,,,,,saturation,,7.59362,11.75102,7.590513252956191,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.518,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.8948897477778643,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176Q,NP_000240:p.Ile176Gln,,,,,saturation,,4.40167,3.87483,3.357574603860052,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.4386,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9399768304384128,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176R,NP_000240:p.Ile176Arg,,,,,saturation,,8.3775,7.44456,5.023390010279074,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.39,H,-0.4982,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9378729694737185,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176S,NP_000240:p.Ile176Ser,"hg19,3:g.37050378T>G",,,0.878,"cBioPortal,saturation",,4.48704,4.22857,4.526763399931486,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.3466,0.5643,-8.8578,loss_of_function,-3.94162805673249,0.48671099539976687,0.4392319365144873,Uncertain,0.9216,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176T,NP_000240:p.Ile176Thr,,,,,saturation,,3.66671,2.62279,3.2307024232996016,Uncertain,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.39,H,-0.3313,0.5643,-22.1457,loss_of_function,-3.59601887410249,0.5293767842076951,0.5346698151705327,Uncertain,0.8779,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176V,NP_000240:p.Ile176Val,,,,,"saturation,clinvar",,1.09379,0.70068,0.9567057389690232,Neutral,Neutral,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1746484,Uncertain significance,1,95.39,H,-0.128,0.5643,-4.273,loss_of_function,-1.21972160583125,0.8227329867871251,0.0034519426537694,Benign,0.1289,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176W,NP_000240:p.Ile176Trp,,,,,saturation,,19.67522,9.18503,4.750091685956942,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.39,H,-0.4238,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9356426386787484,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I176Y,NP_000240:p.Ile176Tyr,,,,,saturation,,16.10506,7.14626,4.219793830831005,Destabilizing,Destabilizing,False,0.123,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.39,H,-0.4326,0.5643,-22.1457,loss_of_function,-6.24620352580593,0.20220891849550449,0.9522142016524904,Pathogenic,0.9913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177A,NP_000240:p.Leu177Ala,,,,,saturation,,2.51039,1.56054,2.8125608386089067,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.1273,2.167,-4.0506,loss_of_function,-1.32899436659579,0.8092431584852239,2.629809422139704e-05,Benign,0.1762,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177C,NP_000240:p.Leu177Cys,,,,,saturation,,2.58181,1.34048,2.801427398813611,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.2089,2.167,-22.1457,loss_of_function,-2.4257837501304,0.6738434452931026,0.0286485183424034,Benign,0.4466,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177D,NP_000240:p.Leu177Asp,,,,,saturation,,4.21958,2.95204,3.5363371409176403,Uncertain,Destabilizing,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.3412,2.167,-22.1457,loss_of_function,-3.86722301023217,0.495896370556958,0.0779023116782901,Benign,0.947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177E,NP_000240:p.Leu177Glu,,,,,saturation,,2.79508,2.2415,3.011437555233188,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.3092,2.167,-22.1457,loss_of_function,-3.30905783696231,0.5648024025710661,0.0396368089209838,Benign,0.6505,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177F,NP_000240:p.Leu177Phe,,,,,"saturation,clinvar",,4.29087,2.98129,1.5475458230389068,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,842104,Uncertain significance,1,95.12,H,-0.0802,2.167,-7.8579,loss_of_function,-2.94128613726137,0.6102041756072061,0.0014009647626593,Benign,0.2669,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177G,NP_000240:p.Leu177Gly,,,,,saturation,,3.62339,3.22415,4.193249649265818,Destabilizing,Destabilizing,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.2945,2.167,-22.1457,loss_of_function,-3.72475120835113,0.5134846526850088,0.0725508068566048,Benign,0.5521,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177H,NP_000240:p.Leu177His,,,,,saturation,,4.01719,2.70034,2.1977990513625447,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.262,2.167,-22.1457,loss_of_function,-3.05635516964241,0.595998791952345,0.057821069502551,Benign,0.441,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177I,NP_000240:p.Leu177Ile,,,,,saturation,,0.31495,1.38912,0.948162670061402,Neutral,Neutral,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.12,H,-0.0002,2.167,-3.8136,loss_of_function,-0.432173643486966,0.9199565465947596,0.0018344018207386,Benign,0.0757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177K,NP_000240:p.Leu177Lys,,,,,saturation,,1.50861,1.85782,2.97325186247028,Neutral,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.12,H,-0.2404,2.167,-8.8578,loss_of_function,-3.21212417635575,0.5767689569905604,0.0938884899456037,Benign,0.5722,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177M,NP_000240:p.Leu177Met,,,,,saturation,,0.76788,1.26735,1.2682495524465092,Neutral,Neutral,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.12,H,-0.0288,2.167,-4.858,loss_of_function,-1.34998182026135,0.8066522369741204,0.0029363205132135,Benign,0.0863,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177N,NP_000240:p.Leu177Asn,,,,,saturation,,1.75558,1.78265,2.3548842756516986,Neutral,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.2196,2.167,-8.8578,loss_of_function,-2.41606692796043,0.6750429964144973,0.0322511371858254,Benign,0.5232,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177P,NP_000240:p.Leu177Pro,,,,,saturation,,5.79692,9.17483,7.008389246688471,Destabilizing,Destabilizing,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.303,2.167,-22.1457,loss_of_function,-4.59578644624547,0.40595450773498404,0.5946481900555417,Uncertain,0.9698,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177Q,NP_000240:p.Leu177Gln,,,,,saturation,,2.4573,1.88605,2.3875462756869346,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.1726,2.167,-8.8578,loss_of_function,-3.1374824334121,0.5859835525532567,0.0375938299125535,Benign,0.1943,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177R,NP_000240:p.Leu177Arg,,,,,saturation,,1.71963,1.58639,2.337424409077341,Neutral,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.12,H,-0.232,2.167,-8.8578,loss_of_function,-4.34051289485055,0.4374682752488686,0.0868239403199658,Benign,0.4629,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177S,NP_000240:p.Leu177Ser,,,,,"saturation,clinvar",,2.62672,2.40714,3.3957516290477794,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483599,Conflicting classifications of pathogenicity,1,95.12,H,-0.1598,2.167,-4.4657,loss_of_function,-1.72368165395419,0.7605186300468819,0.0003897923468667,Benign,0.2166,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177T,NP_000240:p.Leu177Thr,,,,,saturation,,1.57226,1.49932,2.5687254791473224,Neutral,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.1333,2.167,-4.6101,loss_of_function,-1.19052959203546,0.8263367692040486,0.0007798425818702,Benign,0.1431,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177V,NP_000240:p.Leu177Val,,,,,saturation,,1.74934,1.3568,1.36222323213026,Neutral,Neutral,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.12,H,-0.0285,2.167,-2.2433,loss_of_function,-0.296099076492848,0.9367550838712322,3.912070925438873e-05,Benign,0.0704,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177W,NP_000240:p.Leu177Trp,,,,,saturation,,3.85018,1.96122,1.7805055258021791,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.12,H,-0.2522,2.167,-22.1457,loss_of_function,-3.78333794926312,0.5062520626951419,0.4745739725836788,Uncertain,0.5044,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L177Y,NP_000240:p.Leu177Tyr,,,,,saturation,,2.61594,0.9551,2.008335147161912,Uncertain,Uncertain,False,0.167,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,True,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.12,H,-0.1773,2.167,-8.8578,loss_of_function,-2.88556666362452,0.6170827986709453,0.0012361922726242,Benign,0.5947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178A,NP_000240:p.Glu178Ala,,,,,saturation,,0.4066,0.26973,0.4363207932397495,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.1267,1.2369,-6.5422,loss_of_function,-3.10231261980803,0.5903253001544826,0.2900571594245875,Benign,0.5193,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178C,NP_000240:p.Glu178Cys,,,,,saturation,,1.31988,0.9898,1.202657012942703,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.2758,1.2369,-22.1519,loss_of_function,-4.26153607782945,0.4472180399110884,0.966935986294838,Pathogenic,0.9537,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178D,NP_000240:p.Glu178Asp,,,,,saturation,,0.31856,0.36156,0.5202776071062306,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.0639,1.2369,-0.9573,loss_of_function,-0.126249643127294,0.9577231611600789,0.0002446627209447,Benign,0.0855,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178F,NP_000240:p.Glu178Phe,,,,,saturation,,-0.05269,0.21054,0.0493873330475863,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.1856,1.2369,-8.864,loss_of_function,-5.33421902485248,0.3147942896875665,0.959634590387506,Pathogenic,0.9609,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178G,NP_000240:p.Glu178Gly,,,,,"saturation,clinvar",,1.25025,1.30306,1.3803232481991174,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1746916,Uncertain significance,1,93.45,H,-0.2321,1.2369,-22.1519,loss_of_function,-4.18507019919712,0.4566578267938125,0.5708388232997972,Uncertain,0.4892,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178H,NP_000240:p.Glu178His,,,,,saturation,,0.90997,0.5432,0.2618121359497088,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2447,1.2369,-22.1519,loss_of_function,-5.33421902485248,0.3147942896875665,0.6858744100651429,Pathogenic,0.8895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178I,NP_000240:p.Glu178Ile,,,,,saturation,,0.61583,-0.42755,-0.2734004630889691,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2587,1.2369,-22.1519,loss_of_function,-4.96313575026791,0.3606048798550437,0.8363933320570786,Pathogenic,0.8894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178K,NP_000240:p.Glu178Lys,"hg38,3:g.37008892G>A",,,0.710,"COSMIC,saturation,clinvar",,0.31413,0.8068,0.2195655231312976,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,525800,Uncertain significance,2,93.45,H,-0.2284,1.2369,-22.1519,loss_of_function,-4.85460085012951,0.37400361854698433,0.7206324976262238,Pathogenic,0.8523,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178L,NP_000240:p.Glu178Leu,,,,,saturation,,0.30543,-0.62517,-0.2786411286073975,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.1931,1.2369,-8.864,loss_of_function,-4.33658192027479,0.4379535578729655,0.6858866724013085,Pathogenic,0.8188,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178M,NP_000240:p.Glu178Met,,,,,saturation,,-0.52353,-0.26973,0.1250803226759494,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2097,1.2369,-22.1519,loss_of_function,-4.96313575026791,0.3606048798550437,0.8516202075749867,Pathogenic,0.8842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178N,NP_000240:p.Glu178Asn,,,,,saturation,,0.76013,0.49932,0.6488570271180529,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.1648,1.2369,-8.864,loss_of_function,-2.369537674689,0.6807870778603735,0.311147062923675,Benign,0.5435,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178P,NP_000240:p.Glu178Pro,,,,,saturation,,3.90038,5.66497,6.451199290061497,Destabilizing,Destabilizing,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.3634,1.2369,-22.1519,loss_of_function,-5.33421902485248,0.3147942896875665,0.9432563472657612,Pathogenic,0.9842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178Q,NP_000240:p.Glu178Gln,,,,,"saturation,clinvar",,0.07704,0.26871,0.5268061965838272,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,643641,Uncertain significance,2,93.45,H,-0.106,1.2369,-7.8641,loss_of_function,-1.86181066725462,0.7434664693812524,0.3118235065297787,Benign,0.5601,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178R,NP_000240:p.Glu178Arg,,,,,saturation,,0.16648,0.78844,0.1019478147284602,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2889,1.2369,-22.1519,loss_of_function,-4.41103898056974,0.4287617615623784,0.7145375478416303,Pathogenic,0.8932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178S,NP_000240:p.Glu178Ser,,,,,saturation,,0.7731,0.72347,0.8453077903125128,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.1439,1.2369,-7.2792,loss_of_function,-1.93535567970949,0.7343872662611337,0.5925286446367699,Uncertain,0.4721,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178T,NP_000240:p.Glu178Thr,,,,,saturation,,1.66731,-0.02075,0.5097821921179398,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.45,H,-0.1679,1.2369,-8.864,loss_of_function,-3.1070048818112,0.5897460358590861,0.4246850287916647,Uncertain,0.642,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178V,NP_000240:p.Glu178Val,,,,,"saturation,clinvar",,1.17378,-0.32381,-0.0009017705350139,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1746918,Uncertain significance,1,93.45,H,-0.2196,1.2369,-22.1519,loss_of_function,-4.96313575026791,0.3606048798550437,0.8293251542363556,Pathogenic,0.737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178W,NP_000240:p.Glu178Trp,,,,,saturation,,-0.5474,-0.14354,-0.4700559399607995,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2635,1.2369,-22.1519,loss_of_function,-5.33421902485248,0.3147942896875665,0.9533148645081352,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E178Y,NP_000240:p.Glu178Tyr,,,,,saturation,,0.50152,-0.29354,0.1167699441565894,Neutral,Neutral,False,0.108,,,,,,,Uncertain,Uncertain,Uncertain,56.0,,True,56.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.45,H,-0.2542,1.2369,-22.1519,loss_of_function,-5.33421902485248,0.3147942896875665,0.8654370015797619,Pathogenic,0.9081,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179A,NP_000240:p.Val179Ala,,,,,saturation,,1.42643,1.75068,1.924327533074569,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.1772,1.0918,-7.8641,loss_of_function,-1.63470575522707,0.77150279104399,0.7824255410833341,Pathogenic,0.4767,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179C,NP_000240:p.Val179Cys,,,,,saturation,,1.47874,1.9381,2.040833472167716,Neutral,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.2102,1.0918,-8.864,loss_of_function,-3.12084111435341,0.5880379395317519,0.8105807111380982,Pathogenic,0.882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179D,NP_000240:p.Val179Asp,,,,,saturation,,2.45822,2.78946,2.987163813522134,Uncertain,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.4167,1.0918,-22.1519,loss_of_function,-4.4583194248259,0.4229249448608442,0.9708614958991312,Pathogenic,0.9569,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179E,NP_000240:p.Val179Glu,,,,,saturation,,1.4643,2.37551,2.4423638445413483,Uncertain,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.36,H,-0.374,1.0918,-22.1519,loss_of_function,-4.4583194248259,0.4229249448608442,0.9025713004640776,Pathogenic,0.9238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179F,NP_000240:p.Val179Phe,,,,,saturation,,-0.36568,1.81497,0.1604715604496809,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.2594,1.0918,-8.864,loss_of_function,-3.30368482176358,0.5654657065087286,0.7757973979548757,Pathogenic,0.6832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179G,NP_000240:p.Val179Gly,,,,,saturation,,2.7752,3.61905,3.8927464207124207,Uncertain,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.3759,1.0918,-22.1519,loss_of_function,-4.9783461655692,0.3587271393332576,0.9449793459093014,Pathogenic,0.6888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179H,NP_000240:p.Val179His,,,,,saturation,,0.79086,1.5,1.2819842976157396,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.4197,1.0918,-22.1519,loss_of_function,-3.89531637183039,0.4924282178194261,0.920175487048824,Pathogenic,0.9786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179I,NP_000240:p.Val179Ile,,,,,saturation,,-0.79698,0.05714,-0.2570692243580164,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.093,1.0918,-4.0062,loss_of_function,-0.0154055163913529,0.9714069761152444,0.0437873055343496,Benign,0.0772,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179K,NP_000240:p.Val179Lys,,,,,saturation,,0.92272,4.1415,2.278930733253434,Uncertain,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.4129,1.0918,-22.1519,loss_of_function,-4.9783461655692,0.3587271393332576,0.9851655579454122,Pathogenic,0.9753,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179L,NP_000240:p.Val179Leu,,,,,saturation,,-0.66977,0.66429,-0.1648494070868111,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.1592,1.0918,-4.2203,loss_of_function,-1.5095296927217,0.7869558973706811,0.1308385283710113,Benign,0.4803,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179M,NP_000240:p.Val179Met,,,,,saturation,,-0.66513,0.39864,0.5201484883672566,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.1662,1.0918,-3.8198,loss_of_function,-2.18862953896317,0.7031203626816209,0.0716330133605908,Benign,0.3099,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179N,NP_000240:p.Val179Asn,,,,,saturation,,1.52104,2.72177,1.8736789719164064,Uncertain,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.4045,1.0918,-22.1519,loss_of_function,-4.4583194248259,0.4229249448608442,0.9632780361979564,Pathogenic,0.7724,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179P,NP_000240:p.Val179Pro,,,,,saturation,,4.4045,9.11701,6.151902793957596,Destabilizing,Destabilizing,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.4544,1.0918,-22.1519,loss_of_function,-4.9783461655692,0.3587271393332576,0.9807582564125203,Pathogenic,0.9887,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179Q,NP_000240:p.Val179Gln,,,,,saturation,,1.5993,2.29796,1.6796727788244916,Uncertain,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.36,H,-0.3846,1.0918,-22.1519,loss_of_function,-3.74811408575105,0.5106004828099344,0.7975838484994751,Pathogenic,0.9275,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179R,NP_000240:p.Val179Arg,,,,,saturation,,1.29907,3.03027,1.501629974786021,Uncertain,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.4339,1.0918,-22.1519,loss_of_function,-4.9783461655692,0.3587271393332576,0.9876170558751144,Pathogenic,0.9669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179S,NP_000240:p.Val179Ser,,,,,saturation,,1.92042,2.81633,2.7590633738204184,Uncertain,Uncertain,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.3537,1.0918,-22.1519,loss_of_function,-4.01550125333355,0.4775912776284897,0.9081412577067788,Pathogenic,0.6367,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179T,NP_000240:p.Val179Thr,,,,,saturation,,0.95159,1.06429,1.5360351383657684,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.36,H,-0.2013,1.0918,-8.864,loss_of_function,-3.22849391579348,0.5747480967796825,0.6768481121192321,Uncertain,0.2973,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179W,NP_000240:p.Val179Trp,,,,,saturation,,0.53433,2.66837,0.4336410946351338,Uncertain,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.3678,1.0918,-22.1519,loss_of_function,-3.89531637183039,0.4924282178194261,0.9108689477359848,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V179Y,NP_000240:p.Val179Tyr,,,,,saturation,,-0.53513,1.57721,0.5897975945935507,Neutral,Neutral,False,0.134,,,,,,,,,,18.7,,False,18.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.36,H,-0.3707,1.0918,-22.1519,loss_of_function,-3.89531637183039,0.4924282178194261,0.8836177481361527,Pathogenic,0.9526,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180A,NP_000240:p.Val180Ala,,,,,"saturation,clinvar",,2.49063,1.70476,2.6754377953820967,Uncertain,Uncertain,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,142349,Uncertain significance,2,95.95,H,-0.184,0.9849,-7.273,loss_of_function,-3.02271959885407,0.6001511357898807,0.3156237838042003,Benign,0.1935,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180C,NP_000240:p.Val180Cys,,,,,saturation,,2.21212,1.63673,2.586246525964096,Uncertain,Uncertain,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.2097,0.9849,-6.858,loss_of_function,-1.25903854803469,0.8178792721379361,0.7651578930858227,Pathogenic,0.8012,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180D,NP_000240:p.Val180Asp,,,,,saturation,,4.34078,3.30918,4.93318590388516,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.4265,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9509476105365016,Pathogenic,0.9901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180E,NP_000240:p.Val180Glu,,,,,saturation,,4.58634,3.40476,5.397971001903721,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.95,H,-0.3838,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9580217413092268,Pathogenic,0.973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180F,NP_000240:p.Val180Phe,"hg19,3:g.37050389G>T, hg38,3:g.37008898G>T",,,0.837,"cBioPortal,COSMIC,saturation,clinvar",,7.94895,3.05782,4.5201375502453445,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,572440,Uncertain significance,2,95.95,H,-0.2692,0.9849,-8.8578,loss_of_function,-3.95021963094923,0.4856503572295956,0.5456387441277649,Uncertain,0.4514,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180G,NP_000240:p.Val180Gly,,,,,"saturation,clinvar",,4.58182,3.84796,5.034684048480127,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90257,Conflicting classifications of pathogenicity,1,95.95,H,-0.3857,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9634871783064464,Pathogenic,0.6599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180H,NP_000240:p.Val180His,,,,,saturation,,6.98431,4.32517,4.988247595206874,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.4295,0.9849,-22.1457,loss_of_function,-4.82879912713852,0.37718886627575426,0.9636647295386532,Pathogenic,0.9855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180I,NP_000240:p.Val180Ile,,,,,saturation,,0.73931,0.3517,0.7351315763510049,Neutral,Neutral,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.1042,0.9849,-4.273,loss_of_function,-0.340224438056599,0.9313077651882445,0.0118211957326335,Benign,0.0809,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180K,NP_000240:p.Val180Lys,,,,,saturation,,6.07826,5.9551,8.607866728179483,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.3549,0.9849,-8.8578,loss_of_function,-4.93279281806611,0.36435074426548464,0.966850879219476,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180L,NP_000240:p.Val180Leu,,,,,"saturation,clinvar",,0.08659,2.27075,1.659800644255446,Uncertain,Neutral,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1747224,Uncertain significance,2,95.95,H,-0.1727,0.9849,-4.9511,loss_of_function,-0.626693078747358,0.8959429336441384,0.1410061551024748,Benign,0.3263,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180M,NP_000240:p.Val180Met,,,,,saturation,,0.91636,0.43469,2.8689846439224747,Neutral,Uncertain,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.1801,0.9849,-4.6101,loss_of_function,-0.484788613604737,0.9134611775015616,0.0305372846365066,Benign,0.1614,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180N,NP_000240:p.Val180Asn,,,,,saturation,,3.59024,2.24524,3.0579222123662144,Uncertain,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.4143,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9587617532353712,Pathogenic,0.9312,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180P,NP_000240:p.Val180Pro,,,,,saturation,,4.98879,9.34252,7.8583130027782655,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.4642,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9520491976740272,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180Q,NP_000240:p.Val180Gln,,,,,saturation,,3.56953,2.54422,4.3002947099298,Uncertain,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.95,H,-0.3944,0.9849,-22.1457,loss_of_function,-5.11057120693612,0.34240382972918326,0.9566687208357568,Pathogenic,0.9456,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180R,NP_000240:p.Val180Arg,,,,,saturation,,10.82348,6.68129,7.517327529211748,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.3708,0.9849,-7.8579,loss_of_function,-3.40551876110761,0.5528942079262295,0.9651482183117291,Pathogenic,0.9781,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180S,NP_000240:p.Val180Ser,,,,,saturation,,3.83538,2.88163,3.762111326171248,Uncertain,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.3635,0.9849,-22.1457,loss_of_function,-4.01727907207256,0.47737180418082215,0.8969397976314818,Pathogenic,0.4923,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180T,NP_000240:p.Val180Thr,,,,,saturation,,1.78828,1.31122,2.4503906614915008,Neutral,Uncertain,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.95,H,-0.206,0.9849,-7.8579,loss_of_function,-3.09822852540163,0.5908294855701856,0.1812544657365893,Benign,0.1859,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180W,NP_000240:p.Val180Trp,,,,,saturation,,17.15086,4.95884,7.440556266321413,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.3776,0.9849,-22.1457,loss_of_function,-4.82879912713852,0.37718886627575426,0.932578869087438,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V180Y,NP_000240:p.Val180Tyr,,,,,saturation,,11.2875,3.97687,6.284976664099484,Destabilizing,Destabilizing,False,0.155,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.95,H,-0.3805,0.9849,-22.1457,loss_of_function,-4.82879912713852,0.37718886627575426,0.8897666440380794,Pathogenic,0.9672,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181A,NP_000240:p.Gly181Ala,,,,,saturation,,-0.02372,-1.67143,1.843657600713106,Neutral,Neutral,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.0891,2.2834,-5.688,loss_of_function,-1.66923854797458,0.767239684285364,0.0250660317282378,Benign,0.1221,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181C,NP_000240:p.Gly181Cys,,,,,saturation,,1.50331,0.13027,3.643506494020275,Neutral,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.165,2.2834,-8.8578,loss_of_function,-1.74774653681845,0.7575477969163475,0.0509046866745923,Benign,0.1747,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181D,NP_000240:p.Gly181Asp,"hg19,3:g.37050393G>A, hg38,3:g.37008902_37008903delinsAT",,,0.557,"cBioPortal,COSMIC,saturation,clinvar",,4.62128,2.30306,6.124614656319883,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,955546,Uncertain significance,1,95.03,H,-0.2334,2.2834,-22.1457,loss_of_function,-3.23394228628756,0.5740754901577207,0.2933463351137403,Benign,0.8843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181E,NP_000240:p.Gly181Glu,,,,,saturation,,2.05581,3.36054,6.436880281119892,Uncertain,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1568,2.2834,-7.273,loss_of_function,-2.33320653606678,0.685272192161479,0.0672552003996776,Benign,0.693,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181F,NP_000240:p.Gly181Phe,,,,,saturation,,8.69756,0.66463,4.628484604155247,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2709,2.2834,-22.1457,loss_of_function,-3.84303671796276,0.49888219179631504,0.4435168055449493,Uncertain,0.7456,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181H,NP_000240:p.Gly181His,,,,,saturation,,8.56106,1.58231,5.015906906559456,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1727,2.2834,-7.8579,loss_of_function,-2.43118455219752,0.6731767110395864,0.0610201274247896,Benign,0.7608,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181I,NP_000240:p.Gly181Ile,,,,,saturation,,1.69049,3.29218,5.646345273686261,Uncertain,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2407,2.2834,-7.273,loss_of_function,-2.20596246395457,0.7009805962799323,0.0737951764414549,Benign,0.4218,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181K,NP_000240:p.Gly181Lys,,,,,saturation,,0.19298,0.8017,6.286880871249503,Neutral,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1927,2.2834,-7.8579,loss_of_function,-2.57623141545689,0.6552705350867847,0.061923041517518,Benign,0.904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181L,NP_000240:p.Gly181Leu,,,,,saturation,,1.63761,3.13844,4.117639318436179,Uncertain,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2052,2.2834,-6.536,loss_of_function,-2.32726573063375,0.6860055903542754,0.0647914919937724,Benign,0.4756,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181M,NP_000240:p.Gly181Met,,,,,saturation,,-0.40984,0.72143,4.311548424427031,Neutral,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1391,2.2834,-5.688,loss_of_function,-1.87838804593749,0.7414199759041691,0.1057388656183651,Benign,0.4851,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181N,NP_000240:p.Gly181Asn,,,,,saturation,,3.6964,0.54898,4.157586582409847,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1505,2.2834,-5.858,loss_of_function,-1.80156378038612,0.7509040059996542,0.0031485711968619,Benign,0.488,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181P,NP_000240:p.Gly181Pro,,,,,saturation,,5.56794,10.4483,10.723718323390584,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.3307,2.2834,-22.1457,loss_of_function,-4.39647094692462,0.4305601994456532,0.7837577295641086,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181Q,NP_000240:p.Gly181Gln,,,,,saturation,,1.26483,1.87891,5.0929685001497065,Neutral,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1479,2.2834,-4.7705,loss_of_function,-1.86512657945249,0.7430571168042653,0.0075733456878146,Benign,0.5978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181R,NP_000240:p.Gly181Arg,,,,,saturation,,1.32114,0.58027,5.473431371510498,Neutral,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1737,2.2834,-7.273,loss_of_function,-2.92614816149493,0.6120729733981546,0.0696205263910174,Benign,0.8101,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181S,NP_000240:p.Gly181Ser,,,,,"saturation,clinvar",,2.03583,-0.22551,3.394291178072648,Uncertain,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,422298,Uncertain significance,2,95.03,H,-0.0749,2.2834,-1.76,loss_of_function,-0.222962767957164,0.9457838320961183,8.753719762392654e-06,Benign,0.0732,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181T,NP_000240:p.Gly181Thr,,,,,saturation,,3.24712,2.74218,4.562923074153698,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.1564,2.2834,-2.6485,loss_of_function,-1.14673233969049,0.831743582485739,0.0008525008039337,Benign,0.1485,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181V,NP_000240:p.Gly181Val,,,,,saturation,,2.09509,2.4449,4.704162909464317,Uncertain,Uncertain,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2599,2.2834,-22.1457,loss_of_function,-2.67895996199498,0.642588596378484,0.2047936261142772,Benign,0.2746,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181W,NP_000240:p.Gly181Trp,,,,,saturation,,5.78052,1.28537,5.172457697012598,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2707,2.2834,-22.1457,loss_of_function,-3.84303671796276,0.49888219179631504,0.6287615402440143,Uncertain,0.7682,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G181Y,NP_000240:p.Gly181Tyr,,,,,saturation,,9.33344,0.68163,5.132034088630442,Uncertain,Destabilizing,False,0.064,,,,,,,,,,1.8,,False,1.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.03,H,-0.2035,2.2834,-8.8578,loss_of_function,-3.22302290340393,0.575423498565601,0.1439472283642553,Benign,0.6824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182A,NP_000240:p.Arg182Ala,,,,,saturation,,1.62418,0.18299,1.1329965087553118,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2161,1.2088,-6.0537,loss_of_function,-3.02660411865728,0.5996715880525122,0.4508770947823141,Uncertain,0.8485,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182C,NP_000240:p.Arg182Cys,,,,,saturation,,1.85067,0.48231,1.9064851671256329,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.307,1.2088,-22.1488,loss_of_function,-4.29308403792503,0.44332341363838323,0.8230768999981639,Pathogenic,0.3809,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182D,NP_000240:p.Arg182Asp,,,,,saturation,,3.47129,2.05544,2.915741157535659,Uncertain,Uncertain,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.3892,1.2088,-22.1488,loss_of_function,-3.80113564258599,0.5040549201921466,0.903890233032172,Pathogenic,0.9739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182E,NP_000240:p.Arg182Glu,,,,,saturation,,2.22604,1.81361,2.0720606094608978,Uncertain,Uncertain,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.3345,1.2088,-22.1488,loss_of_function,-4.19529715220411,0.455395299525803,0.7301188504261626,Pathogenic,0.9254,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182F,NP_000240:p.Arg182Phe,,,,,saturation,,-0.15623,-1.09048,-0.1605040333041624,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.3,H,-0.3303,1.2088,-22.1488,loss_of_function,-4.56644952475441,0.4095761791474371,0.8276268959506417,Pathogenic,0.9432,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182G,NP_000240:p.Arg182Gly,,,,,"saturation,clinvar",,3.36489,2.34184,2.8145887229452247,Uncertain,Uncertain,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90258,Pathogenic,3,95.3,H,-0.2475,1.2088,-5.2761,loss_of_function,-2.75319637002063,0.6334240398045562,0.3687782844396849,Uncertain,0.6238,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182H,NP_000240:p.Arg182His,,,,,saturation,,1.54559,0.38878,0.6826174420517952,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2001,1.2088,-8.8609,loss_of_function,-3.86061038423548,0.49671270564994835,0.4743026018097762,Uncertain,0.2808,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182I,NP_000240:p.Arg182Ile,,,,,saturation,,1.00635,0.52857,0.7969503748650636,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.3276,1.2088,-22.1488,loss_of_function,-4.43665267990462,0.42559972553632247,0.8815095360561777,Pathogenic,0.9042,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182K,NP_000240:p.Arg182Lys,"hg19,3:g.37050396G>A",,,0.549,"cBioPortal,saturation,clinvar",,0.844,0.4585,1.335650567281882,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,90264,Pathogenic,3,95.3,H,-0.0863,1.2088,-2.1332,loss_of_function,-0.997038172777104,0.850223472582128,0.0012176833154502,Benign,0.1769,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182L,NP_000240:p.Arg182Leu,,,,,saturation,,-0.36862,1.54252,0.0215722977093685,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2328,1.2088,-8.8609,loss_of_function,-3.45314392663422,0.5470148350495072,0.701512477791951,Pathogenic,0.7711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182M,NP_000240:p.Arg182Met,,,,,saturation,,-0.32208,0.84524,0.5635192180528298,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2665,1.2088,-22.1488,loss_of_function,-4.59679985738235,0.4058294011472115,0.9571286330337077,Pathogenic,0.8536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182N,NP_000240:p.Arg182Asn,,,,,saturation,,2.3208,0.72551,1.49641328822431,Uncertain,Uncertain,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2453,1.2088,-8.8609,loss_of_function,-3.13722717839333,0.5860150640329,0.3291134967121219,Uncertain,0.9144,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182P,NP_000240:p.Arg182Pro,,,,,saturation,,4.27857,8.34898,7.649651259637242,Destabilizing,Destabilizing,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.4403,1.2088,-22.1488,loss_of_function,-5.13263035384241,0.339680606648058,0.9029715695356708,Pathogenic,0.9839,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182Q,NP_000240:p.Arg182Gln,,,,,saturation,,1.60437,-0.12313,1.3228165165518495,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.2,1.2088,-7.861,loss_of_function,-3.07938000985892,0.5931563530954307,0.3907480656813196,Uncertain,0.2844,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182S,NP_000240:p.Arg182Ser,,,,,"saturation,clinvar",,2.79658,1.31429,2.155737054418408,Uncertain,Uncertain,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"1747734, 1464444","Uncertain significance, Uncertain significance","1, 1",95.3,H,-0.2309,1.2088,-8.8609,loss_of_function,-3.56442264220354,0.5332773696813459,0.1886085688173411,Benign,0.8875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182T,NP_000240:p.Arg182Thr,,,,,"saturation,clinvar",,1.82896,0.89966,1.833721255358848,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,224531,Conflicting classifications of pathogenicity,1,95.3,H,-0.2353,1.2088,-8.8609,loss_of_function,-3.60086064219054,0.5287790632411117,0.7681525302414205,Pathogenic,0.8981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182V,NP_000240:p.Arg182Val,,,,,saturation,,1.63501,1.19422,0.9384332138438696,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.3,H,-0.3147,1.2088,-22.1488,loss_of_function,-4.59679985738235,0.4058294011472115,0.863948550034584,Pathogenic,0.9193,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182W,NP_000240:p.Arg182Trp,,,,,saturation,,0.57648,-0.8619,-0.4516543080580892,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.3,H,-0.2481,1.2088,-8.8609,loss_of_function,-3.04955934441549,0.5968377431679953,0.8472216626790073,Pathogenic,0.6471,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R182Y,NP_000240:p.Arg182Tyr,,,,,saturation,,-0.04305,-1.11667,-0.0073562822010586,Neutral,Neutral,False,0.022,,,,,,,,,,15.5,,True,15.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.3,H,-0.3197,1.2088,-22.1488,loss_of_function,-4.56644952475441,0.4095761791474371,0.701749636105397,Pathogenic,0.7965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183A,NP_000240:p.Tyr183Ala,,,,,saturation,,5.28725,4.05952,4.015910191720327,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4301,0.2335,-22.1519,loss_of_function,-5.67550857004481,0.27266176431100886,0.9172219016313732,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183C,NP_000240:p.Tyr183Cys,,,,,"saturation,clinvar",,5.11994,3.92279,4.589366130233204,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,486861,Uncertain significance,2,95.29,H,-0.3279,0.2335,-7.8641,loss_of_function,-3.04220724803018,0.5977453665976858,0.98647034645113,Pathogenic,0.9202,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183D,NP_000240:p.Tyr183Asp,,,,,saturation,,6.94341,5.25578,5.482814155157777,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4443,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.9928719332343948,Pathogenic,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183E,NP_000240:p.Tyr183Glu,,,,,saturation,,5.83704,4.5051,4.756802286573494,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.473,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.9472328301693836,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183F,NP_000240:p.Tyr183Phe,,,,,saturation,,1.04612,-0.22177,-0.1186469805284601,Neutral,Neutral,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,damaging,uncertain,-,uncertain,uncertain,neutral,,,,95.29,H,-0.1829,0.2335,-5.5422,loss_of_function,-1.870062738343,0.742447743201567,0.4736392028521936,Uncertain,0.3937,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183G,NP_000240:p.Tyr183Gly,,,,,saturation,,7.22309,6.31667,6.135213404542781,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.5007,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.9943558056990917,Pathogenic,0.9844,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183H,NP_000240:p.Tyr183His,"hg19,3:g.37053312T>C",,,0.903,"cBioPortal,saturation,clinvar",,3.43636,2.3881,2.4139791605632688,Uncertain,Uncertain,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,1719145,Uncertain significance,2,95.29,H,-0.27,0.2335,-8.864,loss_of_function,-2.79458505226796,0.6283145668375328,0.831000954307968,Pathogenic,0.9882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183I,NP_000240:p.Tyr183Ile,,,,,saturation,,2.30812,1.66633,2.793057673421805,Uncertain,Uncertain,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,uncertain,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4422,0.2335,-22.1519,loss_of_function,-4.63828036922207,0.4007085917279405,0.9262444158280124,Pathogenic,0.9668,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183K,NP_000240:p.Tyr183Lys,,,,,saturation,,4.28242,4.43741,5.0746229306520005,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4305,0.2335,-8.864,loss_of_function,-6.23632928391319,0.2034279032343592,0.9795879546194736,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183L,NP_000240:p.Tyr183Leu,,,,,saturation,,2.00113,2.34626,1.9109041095588344,Uncertain,Uncertain,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,uncertain,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4193,0.2335,-22.1519,loss_of_function,-4.12265868218005,0.46436258910356715,0.8794743057149408,Pathogenic,0.868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183M,NP_000240:p.Tyr183Met,,,,,saturation,,2.43434,2.07007,2.3731994868227617,Uncertain,Uncertain,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,uncertain,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.3714,0.2335,-22.1519,loss_of_function,-4.14529043465641,0.46156867730943685,0.8652235808558313,Pathogenic,0.9724,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183N,NP_000240:p.Tyr183Asn,,,,,saturation,,5.27662,3.87653,4.2170876042003895,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4233,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.9798230262766184,Pathogenic,0.9734,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183P,NP_000240:p.Tyr183Pro,,,,,saturation,,7.44844,10.31803,9.416853416774464,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.5543,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.9937449048099748,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183Q,NP_000240:p.Tyr183Gln,,,,,saturation,,5.50263,3.1517,3.963967506296967,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4478,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.92570071291933,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183R,NP_000240:p.Tyr183Arg,,,,,saturation,,5.07381,5.19354,3.769654503714552,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4937,0.2335,-22.1519,loss_of_function,-6.23632928391319,0.2034279032343592,0.984603541405916,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183S,NP_000240:p.Tyr183Ser,,,,,saturation,,6.05801,5.07245,5.352565348634771,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4348,0.2335,-22.1519,loss_of_function,-5.67550857004481,0.27266176431100886,0.978552366605388,Pathogenic,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183T,NP_000240:p.Tyr183Thr,,,,,saturation,,4.60191,3.92415,4.408978860775282,Destabilizing,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4535,0.2335,-22.1519,loss_of_function,-5.67550857004481,0.27266176431100886,0.9601543969287154,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183V,NP_000240:p.Tyr183Val,,,,,saturation,,3.7395,2.47925,3.3690408796596683,Uncertain,Destabilizing,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,95.29,H,-0.4317,0.2335,-22.1519,loss_of_function,-4.87267942115935,0.37177180141863553,0.9148301595521242,Pathogenic,0.9415,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y183W,NP_000240:p.Tyr183Trp,,,,,saturation,,1.68034,0.79286,0.3006025763709041,Neutral,Neutral,False,0.025,,,,,,,,,,0.0,P,True,0.0,13.405,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.29,H,-0.3477,0.2335,-22.1519,loss_of_function,-3.75316306858579,0.5099771809818909,0.993779135400789,Pathogenic,0.9436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184A,NP_000240:p.Ser184Ala,,,,,saturation,,-0.49302,-1.25068,-1.1912460472792312,Neutral,Neutral,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.76,H,-0.0907,0.8479,-0.3406,loss_of_function,-0.100208615169688,0.9609379513190837,3.4422234154616045e-07,Benign,0.04,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184C,NP_000240:p.Ser184Cys,,,,,saturation,,0.82433,-1.39184,-0.2743844292212333,Neutral,Neutral,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2525,0.8479,-22.1519,loss_of_function,-0.694591085233685,0.887560858887964,0.176389996101755,Benign,0.1372,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184D,NP_000240:p.Ser184Asp,,,,,saturation,,7.71364,2.19762,1.629116868269323,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.3007,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.7259865800603922,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184E,NP_000240:p.Ser184Glu,,,,,saturation,,7.71311,3.31735,2.6500040961237934,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2739,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6697792845728933,Uncertain,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184F,NP_000240:p.Ser184Phe,,,,,saturation,,17.99844,6.23027,2.2441037306082934,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2801,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.2463615141982831,Benign,0.8982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184G,NP_000240:p.Ser184Gly,,,,,saturation,,1.5041,0.61803,0.573152339752786,Neutral,Neutral,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.76,H,-0.1353,0.8479,-7.2792,loss_of_function,-3.96088157050713,0.48433413044997536,0.0575733646544565,Benign,0.1219,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184H,NP_000240:p.Ser184His,,,,,saturation,,22.24658,4.79184,2.442763050335444,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2135,0.8479,-8.864,loss_of_function,-5.77645023705741,0.2602004176132549,0.6532401489370311,Uncertain,0.9831,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184I,NP_000240:p.Ser184Ile,,,,,saturation,,4.91671,1.76259,0.4885802110034559,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2154,0.8479,-8.864,loss_of_function,-4.49807874289814,0.41801661848158383,0.0582078508886645,Benign,0.8018,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184K,NP_000240:p.Ser184Lys,,,,,saturation,,7.11418,8.89354,4.514171861866263,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2906,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6516868514530834,Uncertain,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184L,NP_000240:p.Ser184Leu,"hg19,3:g.37053316C>T",,,0.556,"cBioPortal,saturation,clinvar",,3.19246,2.41939,0.5355825642765879,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,422870,Uncertain significance,2,95.76,H,-0.2795,0.8479,-22.1519,loss_of_function,-4.51695090232892,0.415686832095424,0.1754646653268475,Benign,0.5033,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184M,NP_000240:p.Ser184Met,,,,,saturation,,1.72895,1.30782,0.9136984589881394,Neutral,Neutral,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2505,0.8479,-22.1519,loss_of_function,-5.21283682148503,0.32977904042395245,0.2557978388148415,Benign,0.7367,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184N,NP_000240:p.Ser184Asn,,,,,saturation,,6.42282,1.52993,0.5432419520058565,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2243,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6369287641860507,Uncertain,0.9231,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184P,NP_000240:p.Ser184Pro,,,,,"saturation,clinvar",,7.20382,8.4619,6.195850901727959,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,1748030,Uncertain significance,1,95.76,H,-0.3555,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.7401736424105607,Pathogenic,0.9772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184Q,NP_000240:p.Ser184Gln,,,,,saturation,,6.17006,2.77823,1.5274052033589132,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.244,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6416469226178685,Uncertain,0.9855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184R,NP_000240:p.Ser184Arg,,,,,saturation,,12.09926,11.67347,3.2058935856069795,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2959,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6512291984565828,Uncertain,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184T,NP_000240:p.Ser184Thr,,,,,saturation,,2.69355,1.02381,-0.2722073606024439,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,neutral,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.1927,0.8479,-22.1519,loss_of_function,-3.47305479611881,0.544556818899742,0.1060279561846708,Benign,0.2757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184V,NP_000240:p.Ser184Val,,,,,saturation,,2.12449,2.78265,-0.7077683533118828,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.1846,0.8479,-7.8641,loss_of_function,-2.776065591746,0.6306008122013101,0.0522214341580463,Benign,0.5826,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184W,NP_000240:p.Ser184Trp,,,,,saturation,,41.26672,14.67585,3.3666491598677504,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2898,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.5945917615160147,Uncertain,0.981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S184Y,NP_000240:p.Ser184Tyr,,,,,saturation,,32.98158,7.48673,3.059047105909756,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,95.76,H,-0.2849,0.8479,-22.1519,loss_of_function,-5.77645023705741,0.2602004176132549,0.6939888493668819,Pathogenic,0.9472,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185A,NP_000240:p.Val185Ala,,,,,"saturation,clinvar",,2.40375,2.1068,2.92820514585238,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,839683,Uncertain significance,1,95.47,H,-0.1776,1.142,-8.8609,loss_of_function,-2.8984570844965,0.6154914637116597,0.5610663733842763,Uncertain,0.6564,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185C,NP_000240:p.Val185Cys,,,,,saturation,,1.84127,2.14116,2.668165779717512,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.2004,1.142,-7.861,loss_of_function,-3.18312891191821,0.5803484505083775,0.519864441523594,Uncertain,0.8442,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185D,NP_000240:p.Val185Asp,,,,,saturation,,4.96818,3.9432,4.821694621518325,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.412,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9221204307400572,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185E,NP_000240:p.Val185Glu,,,,,"saturation,clinvar",,6.30356,5.74762,5.145857187716116,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,185903,Uncertain significance,1,95.47,H,-0.3693,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9123926915694808,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185F,NP_000240:p.Val185Phe,,,,,saturation,,13.15268,4.67177,5.069223073320886,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.2548,1.142,-8.8609,loss_of_function,-4.35013185307813,0.4362808055260818,0.3803155000209612,Uncertain,0.6466,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185G,NP_000240:p.Val185Gly,,,,,"saturation,clinvar",,4.14744,4.25476,5.302207649821394,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90272,Pathogenic,3,95.47,H,-0.3712,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9267439852884048,Pathogenic,0.8901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185H,NP_000240:p.Val185His,,,,,saturation,,10.60934,5.8034,5.373464878016248,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.415,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9246868963219528,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185I,NP_000240:p.Val185Ile,"hg19,3:g.37053318G>A",,3.9796559985e-06,0.419,"cBioPortal,saturation,clinvar",,0.49609,1.34558,0.6112256376985117,Neutral,Neutral,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1043401,Conflicting classifications of pathogenicity,1,95.47,H,-0.0709,1.142,-0.5711,loss_of_function,-0.0051324952800799,0.9726751905354099,5.954395046128034e-05,Benign,0.0568,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185K,NP_000240:p.Val185Lys,,,,,saturation,,8.47182,9.89184,8.278391909102686,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.4083,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9197769330932216,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185L,NP_000240:p.Val185Leu,,,,,saturation,,0.12153,4.01327,1.6999554171021414,Uncertain,Neutral,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.1629,1.142,-5.8611,loss_of_function,-1.12848619109416,0.8339960872272074,0.0770585679220352,Benign,0.2146,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185M,NP_000240:p.Val185Met,,,,,saturation,,2.71272,5.70442,2.9852129385879325,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.1873,1.142,-8.8609,loss_of_function,-2.22035448384481,0.6992038874654161,0.3926609443270648,Uncertain,0.3105,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185N,NP_000240:p.Val185Asn,,,,,saturation,,3.24162,3.56701,3.1193135896392565,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.3999,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.907968777675912,Pathogenic,0.9544,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185P,NP_000240:p.Val185Pro,,,,,saturation,,4.66831,7.63095,7.843816913936756,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.4498,1.142,-22.1488,loss_of_function,-1.74404274748095,0.7580050333024306,0.9534190784867872,Pathogenic,0.9665,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185Q,NP_000240:p.Val185Gln,,,,,saturation,,5.25924,5.56156,4.077683988393537,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,H,-0.38,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.8413106577566465,Pathogenic,0.9777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185R,NP_000240:p.Val185Arg,,,,,saturation,,13.50804,8.09762,7.200901062626215,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.4293,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.8535182741843084,Pathogenic,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185S,NP_000240:p.Val185Ser,,,,,saturation,,2.79462,3.54864,3.9877672050902815,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.3491,1.142,-22.1488,loss_of_function,-3.73226468700635,0.5125571064575705,0.7113856198297551,Pathogenic,0.8369,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185T,NP_000240:p.Val185Thr,,,,,saturation,,1.28941,2.08265,2.360302590856084,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,H,-0.1886,1.142,-7.2761,loss_of_function,-3.09347509417854,0.5914163012651102,0.7031462778258991,Pathogenic,0.6294,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185W,NP_000240:p.Val185Trp,,,,,saturation,,21.52916,9.44864,7.366974020135477,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.3632,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9006546428730028,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V185Y,NP_000240:p.Val185Tyr,,,,,saturation,,18.8998,6.26361,6.897427887227699,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,H,-0.3661,1.142,-22.1488,loss_of_function,-4.35013185307813,0.4362808055260818,0.9221701798837658,Pathogenic,0.9703,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186A,NP_000240:p.His186Ala,,,,,saturation,,0.73241,2.29558,1.153645915838222,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.2679,0.312,-22.1488,loss_of_function,-4.85521160304516,0.3739282205071676,0.9323268410811808,Pathogenic,0.9788,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186C,NP_000240:p.His186Cys,,,,,saturation,,0.45462,2.88333,1.7156812475285506,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3224,0.312,-22.1488,loss_of_function,-5.44302690018435,0.30136185194322873,0.959221451900943,Pathogenic,0.7464,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186D,NP_000240:p.His186Asp,,,,,saturation,,0.34149,2.67381,2.494456968246621,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3151,0.312,-22.1488,loss_of_function,-4.36340988221698,0.43464161995030326,0.9746614190793146,Pathogenic,0.9884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186E,NP_000240:p.His186Glu,,,,,saturation,,2.01049,2.36054,2.073643875914959,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3266,0.312,-22.1488,loss_of_function,-2.73202378106352,0.6360378164469676,0.953878781588952,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186F,NP_000240:p.His186Phe,,,,,saturation,,2.97814,0.2119,-0.9094135386541836,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.2217,0.312,-8.8609,loss_of_function,-0.836271934963025,0.8700702205701987,0.8993285706611229,Pathogenic,0.9232,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186G,NP_000240:p.His186Gly,,,,,saturation,,2.25944,3.9466,2.9564961542221293,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3505,0.312,-22.1488,loss_of_function,-6.93438590920763,0.11725213578470586,0.9448526378679928,Pathogenic,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186I,NP_000240:p.His186Ile,,,,,saturation,,3.74164,5.30544,0.3745545549163509,Destabilizing,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.3541,0.312,-22.1488,loss_of_function,-5.75402383650056,0.26296897851374734,0.9313590019220994,Pathogenic,0.9901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186K,NP_000240:p.His186Lys,,,,,saturation,,1.18021,2.66837,1.9257939862944693,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.3108,0.312,-22.1488,loss_of_function,-2.72377152222279,0.6370565658048625,0.9792257283696012,Pathogenic,0.9835,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186L,NP_000240:p.His186Leu,,,,,saturation,,0.78658,1.09898,-0.2078157251474771,Neutral,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.2499,0.312,-8.8609,loss_of_function,-5.03230504920407,0.3520658628128892,0.9567649791265902,Pathogenic,0.9144,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186M,NP_000240:p.His186Met,,,,,saturation,,-0.52653,1.21429,0.1769324226318414,Neutral,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.2678,0.312,-22.1488,loss_of_function,-6.0140938372242,0.2308630846780741,0.9879486620797776,Pathogenic,0.9863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186N,NP_000240:p.His186Asn,,,,,"saturation,clinvar",,1.28225,2.07075,1.523537674483704,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,941208,Uncertain significance,2,95.14,H,-0.1925,0.312,-6.0537,loss_of_function,-3.57115203322897,0.5324466198323053,0.3582286383395942,Uncertain,0.7542,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186P,NP_000240:p.His186Pro,,,,,"saturation,clinvar",,7.66067,7.78673,6.25465326731297,Destabilizing,Destabilizing,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,405435,Uncertain significance,2,95.14,H,-0.4311,0.312,-22.1488,loss_of_function,-6.93438590920763,0.11725213578470586,0.97316850243035,Pathogenic,0.9866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186Q,NP_000240:p.His186Gln,,,,,"saturation,clinvar",,1.82864,2.11395,1.242883215165164,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2764124,Uncertain significance,1,95.14,H,-0.1632,0.312,-7.861,loss_of_function,-4.31231109514633,0.44094981477576217,0.9239094925260254,Pathogenic,0.9368,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186R,NP_000240:p.His186Arg,,,,,"saturation,clinvar",,1.52773,2.90714,0.7106257856249634,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,922704,Uncertain significance,2,95.14,H,-0.2262,0.312,-6.8611,loss_of_function,-4.67517026367575,0.39615449847749434,0.7959070858076929,Pathogenic,0.9156,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186S,NP_000240:p.His186Ser,,,,,saturation,,1.10463,3.30918,2.1630342279812966,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.206,0.312,-8.8609,loss_of_function,-2.50920952953598,0.663544451909394,0.9251187362269344,Pathogenic,0.9451,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186T,NP_000240:p.His186Thr,,,,,saturation,,3.11329,2.99898,1.4528034164221078,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3187,0.312,-22.1488,loss_of_function,-5.25540990138214,0.3245233524182962,0.9682686997712422,Pathogenic,0.9923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186V,NP_000240:p.His186Val,,,,,saturation,,1.61563,3.17245,0.4892439746534543,Uncertain,Neutral,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.14,H,-0.3105,0.312,-22.1488,loss_of_function,-5.75294483597319,0.2631021821753922,0.956394119127665,Pathogenic,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186W,NP_000240:p.His186Trp,,,,,saturation,,4.58892,1.53707,-0.5001311202990683,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.14,H,-0.3058,0.312,-22.1488,loss_of_function,-2.99104664544355,0.6040611926085484,0.983160469069074,Pathogenic,0.9123,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H186Y,NP_000240:p.His186Tyr,,,,,"saturation,clinvar",,2.39919,1.07415,-0.5478076745047661,Uncertain,Uncertain,False,0.022,,,,,,,,,,6.7,,True,6.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,629884,Uncertain significance,2,95.14,H,-0.1719,0.312,-8.8609,loss_of_function,-3.26969814211541,0.5696613950755568,0.9459920748390508,Pathogenic,0.7729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187A,NP_000240:p.Asn187Ala,,,,,saturation,,1.20495,0.92823,0.3131441211395463,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.28,S,-0.1238,1.4317,-7.861,loss_of_function,-2.54893652931408,0.6586401152548913,0.8097232933070497,Pathogenic,0.5297,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187C,NP_000240:p.Asn187Cys,,,,,saturation,,0.75674,0.76531,0.9068579951420792,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.28,S,-0.1479,1.4317,-2.8167,loss_of_function,-2.23383279948405,0.6975399763269031,0.056304165902219,Benign,0.164,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187D,NP_000240:p.Asn187Asp,,,,,"saturation,clinvar",,2.49162,0.74966,1.720630961873234,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,999187,Uncertain significance,2,93.28,S,-0.1321,1.4317,-8.8609,loss_of_function,-3.28455727714703,0.5678270204437742,0.9468178265039292,Pathogenic,0.684,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187E,NP_000240:p.Asn187Glu,,,,,saturation,,1.22927,1.05748,1.7776873770516055,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.227,1.4317,-22.1488,loss_of_function,-2.92551983405329,0.6121505410302506,0.9643922006913408,Pathogenic,0.8449,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187F,NP_000240:p.Asn187Phe,,,,,saturation,,2.03997,1.0568,-0.3886956535675095,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.1729,1.4317,-6.2761,loss_of_function,-2.07866947343684,0.7166950394229938,0.3934120941531512,Uncertain,0.5506,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187G,NP_000240:p.Asn187Gly,,,,,saturation,,1.81096,2.24456,2.369810425790965,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.28,S,-0.1435,1.4317,-5.6912,loss_of_function,-5.27888585290682,0.3216252234328477,0.9804587223162388,Pathogenic,0.5977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187H,NP_000240:p.Asn187His,,,,,saturation,,-0.85119,0.93639,0.4238835934905804,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.122,1.4317,-6.5391,loss_of_function,-2.36920303676299,0.6808283892369106,0.6284907424903111,Uncertain,0.1023,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187I,NP_000240:p.Asn187Ile,,,,,saturation,,1.51854,0.72551,-0.1953202850256147,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.247,1.4317,-22.1488,loss_of_function,-4.64816174423389,0.39948872639861677,0.973584714719468,Pathogenic,0.5872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187K,NP_000240:p.Asn187Lys,,,,,saturation,,0.10294,2.1102,1.2661738799734,Uncertain,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.127,1.4317,-7.861,loss_of_function,-3.13123067901084,0.5867553376977757,0.7850185058335472,Pathogenic,0.6453,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187L,NP_000240:p.Asn187Leu,,,,,saturation,,-1.39496,-0.41395,-0.5753396021543328,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.1856,1.4317,-8.8609,loss_of_function,-3.4670814210438,0.5452942378464304,0.9500909928056822,Pathogenic,0.5363,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187M,NP_000240:p.Asn187Met,,,,,saturation,,-1.44345,0.54048,-0.1222222081445212,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.2076,1.4317,-22.1488,loss_of_function,-4.64816174423389,0.39948872639861677,0.9634149216413356,Pathogenic,0.6104,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187P,NP_000240:p.Asn187Pro,,,,,saturation,,3.99829,8.22823,6.52651201699828,Destabilizing,Destabilizing,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.28,S,-0.3623,1.4317,-22.1488,loss_of_function,-5.27888585290682,0.3216252234328477,0.963211823547212,Pathogenic,0.9817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187Q,NP_000240:p.Asn187Gln,,,,,saturation,,0.62378,1.14524,0.8063763954652003,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.1127,1.4317,-6.8611,loss_of_function,-1.28204721630383,0.81503882972361,0.7412888061583904,Pathogenic,0.5581,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187R,NP_000240:p.Asn187Arg,,,,,saturation,,-0.51908,1.85884,0.5923857556703527,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.2321,1.4317,-22.1488,loss_of_function,-3.05260994822794,0.5964611431685156,0.7091310971306317,Pathogenic,0.4974,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187S,NP_000240:p.Asn187Ser,,,,,"saturation,clinvar",,2.0387,2.07381,1.6418000452510944,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,486841,Uncertain significance,2,93.28,S,-0.0819,1.4317,-5.5392,loss_of_function,-0.307974913600836,0.9352890002616737,0.5238286574895263,Uncertain,0.13,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187T,NP_000240:p.Asn187Thr,,,,,saturation,,3.35185,1.85102,1.022233072809642,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.28,S,-0.1382,1.4317,-6.8611,loss_of_function,-1.40636369033394,0.7996918404279194,0.484174086773102,Uncertain,0.3691,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187V,NP_000240:p.Asn187Val,,,,,saturation,,2.49524,1.88707,-0.0867248571202983,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.2403,1.4317,-22.1488,loss_of_function,-3.9123117265391,0.49033012479655075,0.8062088455292105,Pathogenic,0.4826,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187W,NP_000240:p.Asn187Trp,,,,,saturation,,2.54362,2.0415,-0.3564132085610555,Uncertain,Uncertain,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.259,1.4317,-22.1488,loss_of_function,-3.51024750885249,0.539965342438921,0.956859060561022,Pathogenic,0.854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N187Y,NP_000240:p.Asn187Tyr,"hg19,3:g.37053324A>T, hg38,3:g.37011833A>T",,,0.646,"cBioPortal,COSMIC,saturation",,1.24268,1.96293,-0.1274743087247248,Neutral,Neutral,False,0.012,,,,,,,,,,18.5,,False,18.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.28,S,-0.1534,1.4317,-5.6912,loss_of_function,-0.882582891791123,0.8643530880319812,0.3309453015548944,Uncertain,0.1673,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188C,NP_000240:p.Ala188Cys,,,,,saturation,,0.26402,1.33333,0.8252351009981459,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.0337,2.483,-6.8642,loss_of_function,-1.31457224344445,0.8110235835765205,0.0197063160228856,Benign,0.178,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188D,NP_000240:p.Ala188Asp,,,,,saturation,,1.03983,1.59252,1.3783855163143102,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.1073,2.483,-5.2792,loss_of_function,-1.6418255418704,0.7706238464772682,0.0682917423765505,Benign,0.2848,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188E,NP_000240:p.Ala188Glu,,,,,saturation,,0.25654,0.55204,0.7952860670435349,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.0918,2.483,-5.0568,loss_of_function,-1.14340110715295,0.8321548263735177,0.0128943819902019,Benign,0.2668,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188F,NP_000240:p.Ala188Phe,,,,,saturation,,0.14518,1.64048,-0.2016877262191846,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.094,2.483,-8.864,loss_of_function,-2.31631871148275,0.6873570104861674,0.1936566865383977,Benign,0.2522,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188G,NP_000240:p.Ala188Gly,,,,,saturation,,0.84585,1.21599,1.39732272608221,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.56,T,-0.0293,2.483,-7.2792,loss_of_function,-1.71357728131066,0.7617660246501294,0.0238452773883661,Benign,0.101,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188H,NP_000240:p.Ala188His,,,,,saturation,,0.54231,1.09082,0.2754504761597087,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.09,2.483,-7.2792,loss_of_function,-2.25218769313688,0.695274046902736,0.0299393760681235,Benign,0.3073,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188I,NP_000240:p.Ala188Ile,,,,,saturation,,2.15362,0.88469,-0.079647829180704,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.0717,2.483,-6.5422,loss_of_function,-1.89993846276445,0.7387595560447632,0.1584245404409611,Benign,0.1992,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188K,NP_000240:p.Ala188Lys,,,,,saturation,,-0.08142,0.9568,0.5813359503515098,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.095,2.483,-4.7767,loss_of_function,-1.70007089623139,0.7634334009882391,0.0391020267996801,Benign,0.3199,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188L,NP_000240:p.Ala188Leu,,,,,saturation,,0.19664,2.27313,0.0086609334465626,Uncertain,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.1561,2.483,-22.1519,loss_of_function,-1.91429056546332,0.7369877750462378,0.1485522477287617,Benign,0.1835,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188M,NP_000240:p.Ala188Met,,,,,saturation,,0.16829,1.07245,0.0920925923862953,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.047,2.483,-8.864,loss_of_function,-1.98095085525285,0.7287584976167657,0.3370255792870396,Uncertain,0.2031,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188N,NP_000240:p.Ala188Asn,,,,,saturation,,0.8821,1.20306,0.9131844803185888,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.0828,2.483,-6.2792,loss_of_function,-1.67454755550692,0.7665842821561994,0.007577959125624,Benign,0.2008,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188P,NP_000240:p.Ala188Pro,,,,,saturation,,1.02285,2.61293,2.570274406990927,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.1338,2.483,-2.6943,loss_of_function,-1.21465318516443,0.823358688234392,0.0033085146215185,Benign,0.1431,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188Q,NP_000240:p.Ala188Gln,,,,,saturation,,0.38869,0.0534,0.5736447733378919,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.0752,2.483,-5.2792,loss_of_function,-1.65784637078665,0.7686460596086813,0.0715132396606331,Benign,0.2805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188R,NP_000240:p.Ala188Arg,,,,,saturation,,-0.14159,0.2983,0.238600436923404,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.1147,2.483,-6.5422,loss_of_function,-1.93628012528471,0.7342731425582373,0.3281161923598846,Uncertain,0.3009,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188S,NP_000240:p.Ala188Ser,,,,,saturation,,-0.62521,0.56054,0.5763331316069716,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.56,T,0.0313,2.483,-1.0568,gain_of_function,-0.0199039011138767,0.9708516461581885,8.439611857439734e-05,Benign,0.0694,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188T,NP_000240:p.Ala188Thr,,,,,"COSMIC,saturation,clinvar",,-0.40101,0.80068,0.3051257091641152,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1748747,Uncertain significance,2,91.56,T,-0.0014,2.483,-6.2792,loss_of_function,-0.497144515081319,0.9119358294800775,0.0104169512276791,Benign,0.0735,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188V,NP_000240:p.Ala188Val,,,,,"saturation,clinvar",,1.09498,0.41395,-0.115907387700968,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,419939,Conflicting classifications of pathogenicity,1,91.56,T,-0.0065,2.483,-7.8641,loss_of_function,-1.58362773502679,0.7778084221791598,0.0623013435070013,Benign,0.1117,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188W,NP_000240:p.Ala188Trp,,,,,saturation,,0.43436,1.93571,-0.4223369425088924,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.1727,2.483,-22.1519,loss_of_function,-2.86229146980375,0.6199561439231277,0.5499146516492799,Uncertain,0.5422,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A188Y,NP_000240:p.Ala188Tyr,,,,,saturation,,0.21844,1.52313,0.0011168967505409,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,24.4,,False,24.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.56,T,-0.181,2.483,-22.1519,loss_of_function,-2.46455188042093,0.6690574820068643,0.1549036954610208,Benign,0.2904,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189A,NP_000240:p.Gly189Ala,,,,,"saturation,clinvar",,2.62349,1.20136,1.6627076106474985,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,491713,Uncertain significance,2,90.45,T,-0.1095,2.0464,-5.4016,loss_of_function,-1.89804912527311,0.7389927965905698,0.0230300119378385,Benign,0.1888,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189C,NP_000240:p.Gly189Cys,,,,,saturation,,2.68269,1.42211,1.867972640675707,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2546,2.0464,-22.1488,loss_of_function,-2.15197491261249,0.7076454118565612,0.5658897508392557,Uncertain,0.2802,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189D,NP_000240:p.Gly189Asp,"hg19,3:g.37053331G>A",,,0.646,"cBioPortal,saturation,clinvar",,3.84557,1.18844,1.116434228340503,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2875727,Uncertain significance,1,90.45,T,-0.1755,2.0464,-6.5391,loss_of_function,-2.17784571002048,0.704451636824016,0.0838808799508282,Benign,0.3121,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189E,NP_000240:p.Gly189Glu,,,,,saturation,,3.70703,1.14184,1.357532959831513,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2545,2.0464,-22.1488,loss_of_function,-2.19080607008116,0.7028516678040503,0.3117152343667783,Benign,0.3071,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189F,NP_000240:p.Gly189Phe,,,,,saturation,,3.55824,-0.10272,1.135923608170401,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2928,2.0464,-22.1488,loss_of_function,-3.54813075430869,0.5352886190437457,0.6486864961228437,Uncertain,0.7007,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189H,NP_000240:p.Gly189His,,,,,saturation,,3.80778,0.37007,0.8512944060765711,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.1725,2.0464,-3.5392,loss_of_function,-1.97881566174446,0.729022089326337,0.0085689196643023,Benign,0.3601,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189I,NP_000240:p.Gly189Ile,,,,,saturation,,4.48959,4.82619,2.4528823631339267,Destabilizing,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.3384,2.0464,-22.1488,loss_of_function,-3.22398871806262,0.5753042678092256,0.8508908320822736,Pathogenic,0.5969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189K,NP_000240:p.Gly189Lys,,,,,saturation,,3.08037,0.30068,1.0606842279910629,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.1972,2.0464,-4.4688,loss_of_function,-2.11680392379399,0.7119873045391483,0.0016849865077153,Benign,0.333,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189L,NP_000240:p.Gly189Leu,,,,,saturation,,3.59948,0.38197,1.0903706326509288,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2257,2.0464,-6.2761,loss_of_function,-2.46096145781705,0.6695007231597256,0.2248078503249085,Benign,0.5818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189M,NP_000240:p.Gly189Met,,,,,saturation,,3.1131,0.83776,1.2077427457877987,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2449,2.0464,-22.1488,loss_of_function,-3.14980523726337,0.5844622904657192,0.5965518049043562,Uncertain,0.6073,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189N,NP_000240:p.Gly189Asn,,,,,saturation,,2.68558,0.35952,0.8108728817506008,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.1653,2.0464,-4.4688,loss_of_function,-2.03390429843345,0.7222213436956708,0.0034781545904617,Benign,0.2465,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189P,NP_000240:p.Gly189Pro,,,,,saturation,,5.82803,19.03946,6.770364694493547,Destabilizing,Destabilizing,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2848,2.0464,-8.8609,loss_of_function,-4.87844720855021,0.3710597624709582,0.4286377240498186,Uncertain,0.8811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189Q,NP_000240:p.Gly189Gln,,,,,saturation,,3.07984,0.74082,1.353260624995273,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.1774,2.0464,-6.2761,loss_of_function,-1.80403261422136,0.7505992260681297,0.0288691616518908,Benign,0.2916,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189R,NP_000240:p.Gly189Arg,,,,,"saturation,clinvar",,2.7073,1.08469,0.9493471454261516,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2100376,Uncertain significance,1,90.45,T,-0.186,2.0464,-5.4016,loss_of_function,-2.01378636046508,0.724704922650598,0.0152744674513472,Benign,0.2504,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189S,NP_000240:p.Gly189Ser,,,,,"saturation,clinvar",,3.78351,1.19456,1.3638917660046708,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,231068,Uncertain significance,1,90.45,T,-0.1087,2.0464,-4.1062,loss_of_function,-1.06354692632846,0.8420129024482361,0.002055717470155,Benign,0.1155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189T,NP_000240:p.Gly189Thr,,,,,saturation,,4.89733,1.15952,2.1123008159883407,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.1886,2.0464,-4.6912,loss_of_function,-1.86093478468157,0.7435745979344288,0.0284795414920933,Benign,0.242,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189V,NP_000240:p.Gly189Val,,,,,saturation,,4.82988,5.19524,2.296107508123327,Destabilizing,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2817,2.0464,-22.1488,loss_of_function,-4.04934648653816,0.47341305076231033,0.5972417283081635,Uncertain,0.4361,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189W,NP_000240:p.Gly189Trp,,,,,saturation,,3.04701,0.89218,0.886433415107119,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2925,2.0464,-22.1488,loss_of_function,-3.54813075430869,0.5352886190437457,0.7898283885621951,Pathogenic,0.6248,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G189Y,NP_000240:p.Gly189Tyr,,,,,saturation,,3.53261,-0.23197,1.1512058445985065,Uncertain,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.45,T,-0.2931,2.0464,-22.1488,loss_of_function,-3.54813075430869,0.5352886190437457,0.6074577747116607,Uncertain,0.5709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190A,NP_000240:p.Ile190Ala,,,,,saturation,,2.85853,2.91565,2.3853852815956524,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.2012,1.5933,-6.8642,loss_of_function,-3.0422433776463,0.5977409063615331,0.0076219290335161,Benign,0.2859,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190C,NP_000240:p.Ile190Cys,,,,,saturation,,2.00942,2.09762,2.310398394221582,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.1863,1.5933,-7.8641,loss_of_function,-1.59971608802136,0.7758222993976114,0.0342999253958986,Benign,0.4366,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190D,NP_000240:p.Ile190Asp,,,,,saturation,,4.16621,4.68946,3.2275964671118773,Destabilizing,Destabilizing,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.4033,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.5540758816062643,Uncertain,0.7986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190E,NP_000240:p.Ile190Glu,,,,,saturation,,3.54059,4.1085,2.7303873899693203,Destabilizing,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3842,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.5084583983856228,Uncertain,0.6477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190F,NP_000240:p.Ile190Phe,,,,,saturation,,1.34422,2.1068,0.7821558848622225,Uncertain,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.44,S,-0.1724,1.5933,-8.864,loss_of_function,-4.14577500037188,0.4615088572018735,0.5472417802499511,Uncertain,0.1677,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190G,NP_000240:p.Ile190Gly,,,,,saturation,,4.25003,4.84626,4.027761291865075,Destabilizing,Destabilizing,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3699,1.5933,-22.1519,loss_of_function,-5.70038578459034,0.2695906480465275,0.5598576655994404,Uncertain,0.5361,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190H,NP_000240:p.Ile190His,,,,,saturation,,2.21752,2.12585,1.9651406226424368,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3698,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.4565871258118505,Uncertain,0.3877,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190K,NP_000240:p.Ile190Lys,,,,,saturation,,1.49836,2.6034,2.468657912934224,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.44,S,-0.2798,1.5933,-3.1637,loss_of_function,-1.18755601140685,0.8267038606167773,0.002902039541196,Benign,0.1591,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190L,NP_000240:p.Ile190Leu,,,,,saturation,,0.95484,1.52891,0.9051368247702972,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.44,S,-0.0966,1.5933,-8.864,loss_of_function,-2.59948670854431,0.6523996465994364,0.0776893801074584,Benign,0.125,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190M,NP_000240:p.Ile190Met,,,,,saturation,,1.39643,2.12721,1.5657619847379416,Uncertain,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.44,S,-0.1023,1.5933,-8.864,loss_of_function,-3.44907292347609,0.547517404337914,0.3685757972728261,Uncertain,0.1209,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190N,NP_000240:p.Ile190Asn,,,,,saturation,,2.60784,2.88639,2.148584783520991,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3164,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.7678672461258209,Pathogenic,0.2803,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190P,NP_000240:p.Ile190Pro,,,,,saturation,,4.58763,7.60102,4.37301380856704,Destabilizing,Destabilizing,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.4233,1.5933,-22.1519,loss_of_function,-5.70038578459034,0.2695906480465275,0.5624192908916636,Uncertain,0.8495,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190Q,NP_000240:p.Ile190Gln,,,,,saturation,,2.51473,2.84286,2.185575771802738,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3439,1.5933,-22.1519,loss_of_function,-5.21114141429072,0.32998834008649436,0.3970252606850439,Uncertain,0.3178,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190R,NP_000240:p.Ile190Arg,,,,,saturation,,0.62186,2.38707,1.7948797610247218,Uncertain,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.44,S,-0.3357,1.5933,-8.864,loss_of_function,-4.10762695602513,0.46621827027692014,0.290227082982438,Benign,0.1475,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190S,NP_000240:p.Ile190Ser,,,,,saturation,,3.23354,3.75034,2.935126538847846,Destabilizing,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.3198,1.5933,-22.1519,loss_of_function,-4.35899416355995,0.43518674470139473,0.2967466349550025,Benign,0.2732,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190T,NP_000240:p.Ile190Thr,"hg19,3:g.37053334T>C",,,0.679,"cBioPortal,saturation",,1.44752,1.66497,2.032214079475148,Neutral,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.44,S,-0.157,1.5933,-6.5422,loss_of_function,-3.06358655094856,0.5951060709162603,0.0019096498574324,Benign,0.1713,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190V,NP_000240:p.Ile190Val,,,,,"saturation,clinvar",,0.61563,0.08231,0.5393690136248843,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,185258,Uncertain significance,2,94.44,S,-0.016,1.5933,-0.8755,loss_of_function,-0.142530970174788,0.9557132155445284,1.779631545840347e-05,Benign,0.0611,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190W,NP_000240:p.Ile190Trp,,,,,saturation,,3.24083,5.32925,0.8812470568486033,Destabilizing,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.44,S,-0.3291,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.7022236076681333,Pathogenic,0.8078,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I190Y,NP_000240:p.Ile190Tyr,,,,,saturation,,1.60803,1.49728,0.9378769192952552,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,22.7,,False,22.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.44,S,-0.338,1.5933,-22.1519,loss_of_function,-5.50100892957408,0.29420391417730507,0.6313013388841692,Uncertain,0.5008,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191A,NP_000240:p.Ser191Ala,,,,,saturation,,0.34865,-0.10136,-0.7042936526534838,Neutral,Neutral,False,0.043,,,-0.00842,,,-0.01157,Neutral,,,17.3,,False,17.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.54,E,-0.0317,1.5847,-2.0698,loss_of_function,-0.940664211144981,0.8571828928236829,0.0001465332105263,Benign,0.0918,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191C,NP_000240:p.Ser191Cys,,,,,saturation,,0.01314,-0.20408,0.2697494272220641,Neutral,Neutral,False,0.043,,,0.00048,,,0.00069,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.1169,1.5847,-8.864,loss_of_function,-1.77150833558092,0.7546143798121459,0.4018303561795678,Uncertain,0.0813,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191D,NP_000240:p.Ser191Asp,,,,,saturation,,1.54453,0.78503,0.4269835382866327,Neutral,Neutral,False,0.043,,,0.21549,,,0.08297,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2329,1.5847,-22.1519,loss_of_function,-3.43824973782691,0.548853537103898,0.3897043078554236,Uncertain,0.9335,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191E,NP_000240:p.Ser191Glu,,,,,saturation,,0.24624,-0.11088,-0.1909120862949365,Neutral,Neutral,False,0.043,,,0.4113,,,0.38247,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2061,1.5847,-22.1519,loss_of_function,-3.37922091100813,0.5561407030277447,0.2335273765335046,Benign,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191F,NP_000240:p.Ser191Phe,,,,,saturation,,2.07041,-0.08469,-0.7760128627653667,Uncertain,Uncertain,False,0.043,,,0.12373,,,0.25147,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2123,1.5847,-22.1519,loss_of_function,-4.77706338510475,0.38357569380920387,0.4016971168144169,Uncertain,0.6012,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191G,NP_000240:p.Ser191Gly,,,,,saturation,,1.35072,1.79456,0.8429351483850483,Neutral,Neutral,False,0.043,,,-0.00842,,,0.01485,Neutral,,,17.3,,False,17.3,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.54,E,-0.04,1.5847,-1.8984,loss_of_function,-0.355552642428411,0.9294154834914569,1.0916519513861657e-05,Benign,0.0512,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191H,NP_000240:p.Ser191His,,,,,saturation,,2.154,-0.2517,-0.4994916625900003,Uncertain,Uncertain,False,0.043,,,-0.01106,,,0.27027,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2135,1.5847,-22.1519,loss_of_function,-4.77706338510475,0.38357569380920387,0.1679022030366807,Benign,0.7763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191I,NP_000240:p.Ser191Ile,,,,,"saturation,clinvar",,2.06754,0.87925,-0.6658725049842673,Uncertain,Uncertain,False,0.043,,,0.18792,,,-0.00137,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,1749321,Uncertain significance,1,95.54,E,-0.1476,1.5847,-8.864,loss_of_function,-4.50970509853447,0.4165813336016778,0.7254501077305032,Pathogenic,0.4315,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191K,NP_000240:p.Ser191Lys,,,,,saturation,,-0.32081,0.64626,-0.2919655324242298,Neutral,Neutral,False,0.043,,,-0.05096,,,-0.46755,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2228,1.5847,-22.1519,loss_of_function,-4.32074573807111,0.4399085499257938,0.2501736068930295,Benign,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191L,NP_000240:p.Ser191Leu,,,,,saturation,,-0.61846,0.19558,-1.074913913410388,Neutral,Neutral,False,0.043,,,0.05059,,,0.01994,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2117,1.5847,-22.1519,loss_of_function,-2.17519698956816,0.7047786239328941,0.7625338777396692,Pathogenic,0.3299,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191M,NP_000240:p.Ser191Met,,,,,saturation,,-0.62297,0.07041,-0.521149731970646,Neutral,Neutral,False,0.043,,,0.22114,,,0.03157,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.1827,1.5847,-22.1519,loss_of_function,-4.50970509853447,0.4165813336016778,0.6616791129732056,Uncertain,0.4362,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191N,NP_000240:p.Ser191Asn,,,,,saturation,,0.79191,0.38707,0.0280589819485127,Neutral,Neutral,False,0.043,,,0.02038,,,0.07377,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.1565,1.5847,-22.1519,loss_of_function,-3.10956753766051,0.5894296735089251,0.2270248471874333,Benign,0.3738,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191P,NP_000240:p.Ser191Pro,,,,,saturation,,2.61363,5.55884,4.706991790699038,Uncertain,Uncertain,False,0.043,,,-0.00842,,,0.04746,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2877,1.5847,-22.1519,loss_of_function,-4.0078283138529,0.4785385094494911,0.8807298702701614,Pathogenic,0.8945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191Q,NP_000240:p.Ser191Gln,,,,,saturation,,0.12645,-0.55918,-0.2083044291697472,Neutral,Neutral,False,0.043,,,0.12097,,,-0.08475,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.1083,1.5847,-8.864,loss_of_function,-3.0930801908783,0.5914650524605484,0.0769996407839802,Benign,0.8759,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191R,NP_000240:p.Ser191Arg,,,,,"saturation,clinvar",,-0.69743,-0.0915,-0.7576073898391106,Neutral,Neutral,False,0.043,,,-0.18065,,,-1.94677,Uncertain,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,1749389,Uncertain significance,2,95.54,E,-0.2281,1.5847,-22.1519,loss_of_function,-4.50970509853447,0.4165813336016778,0.2030801975517299,Benign,0.9585,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191T,NP_000240:p.Ser191Thr,,,,,saturation,,1.43299,0.73469,-0.1133510451084468,Neutral,Neutral,False,0.043,,,-0.00177,,,0.01762,Neutral,,,17.3,,False,17.3,,neutral,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.0571,1.5847,-8.864,loss_of_function,-1.71907714937067,0.7610870606037051,0.0344932917144891,Benign,0.1769,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191V,NP_000240:p.Ser191Val,,,,,saturation,,1.43406,0.09014,-0.6944337403351736,Neutral,Neutral,False,0.043,,,-0.00314,,,-0.00532,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.1897,1.5847,-22.1519,loss_of_function,-4.50970509853447,0.4165813336016778,0.6523530058777345,Uncertain,0.3992,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191W,NP_000240:p.Ser191Trp,,,,,saturation,,5.08949,0.44626,-1.130905965765077,Uncertain,Uncertain,False,0.043,,,-0.0736,,,0.05107,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.222,1.5847,-22.1519,loss_of_function,-4.77706338510475,0.38357569380920387,0.8506156796894198,Pathogenic,0.8291,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S191Y,NP_000240:p.Ser191Tyr,,,,,saturation,,5.52861,-0.07619,-0.5927396897020604,Uncertain,Uncertain,False,0.043,,,0.13712,,,0.37125,Neutral,,,17.3,,False,17.3,,uncertain,,,UP,neutral,neutral,neutral,,,,95.54,E,-0.2171,1.5847,-22.1519,loss_of_function,-4.77706338510475,0.38357569380920387,0.4714529176795911,Uncertain,0.6216,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192A,NP_000240:p.Phe192Ala,,,,,saturation,,5.75699,4.88469,4.841872594140845,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.4014,0.5154,-22.1488,loss_of_function,-6.69863160798668,0.14635623293255925,0.967010804990416,Pathogenic,0.9683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192C,NP_000240:p.Phe192Cys,,,,,saturation,,5.22454,4.36429,4.884354945746249,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.3696,0.5154,-22.1488,loss_of_function,-4.41119344286067,0.4287426930427474,0.9847180804107594,Pathogenic,0.6279,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192D,NP_000240:p.Phe192Asp,,,,,saturation,,7.6042,6.25272,5.857552211608166,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.5244,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.984743817380876,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192E,NP_000240:p.Phe192Glu,,,,,saturation,,6.88833,5.92925,5.254310665536443,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.4938,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.981584288899464,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192G,NP_000240:p.Phe192Gly,,,,,saturation,,6.95399,6.77381,6.883037339288525,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.4368,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.9876940917864174,Pathogenic,0.992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192H,NP_000240:p.Phe192His,,,,,saturation,,4.30104,3.32109,3.199365106485911,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.429,0.5154,-22.1488,loss_of_function,-3.44282360627725,0.5482888886074303,0.9819676266543116,Pathogenic,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192I,NP_000240:p.Phe192Ile,,,,,saturation,,3.37818,3.38844,2.5888270066517376,Destabilizing,Uncertain,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.2632,0.5154,-6.0537,loss_of_function,-3.61696247806257,0.5267912759852637,0.5132329711889758,Uncertain,0.3814,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192K,NP_000240:p.Phe192Lys,,,,,saturation,,5.15785,6.9102,6.213325272709094,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.5006,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.9846362699782436,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192L,NP_000240:p.Phe192Leu,,,,,saturation,,1.83707,3.08299,1.896820615660541,Uncertain,Neutral,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.2243,0.5154,-5.8611,loss_of_function,-2.07697155310681,0.7169046493345779,0.2887780720813677,Benign,0.8955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192M,NP_000240:p.Phe192Met,,,,,saturation,,1.64658,2.03299,2.295306532529291,Uncertain,Uncertain,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.2537,0.5154,-5.5392,loss_of_function,-2.05276910232158,0.7198924653583854,0.3173269843380658,Benign,0.6298,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192N,NP_000240:p.Phe192Asn,,,,,saturation,,5.73675,4.64422,4.4525678621238125,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.454,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.9698054580218548,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192P,NP_000240:p.Phe192Pro,,,,,saturation,,8.22808,9.32823,8.040696063684281,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.5248,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.98156386169686,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192Q,NP_000240:p.Phe192Gln,,,,,saturation,,4.96848,3.87551,4.198798859591291,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.4561,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.9825967794540376,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192R,NP_000240:p.Phe192Arg,,,,,saturation,,6.03083,5.69354,5.038244055123302,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.502,0.5154,-22.1488,loss_of_function,-7.19980474541874,0.08448592302017745,0.9816612208049348,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192S,NP_000240:p.Phe192Ser,,,,,saturation,,6.79738,5.52279,5.978147560946834,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.3126,0.5154,-8.8609,loss_of_function,-5.89231410337972,0.245896910937421,0.9770344652063276,Pathogenic,0.9741,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192T,NP_000240:p.Phe192Thr,,,,,saturation,,5.98769,3.9551,4.769712759020755,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.4267,0.5154,-22.1488,loss_of_function,-6.69863160798668,0.14635623293255925,0.9601350231596668,Pathogenic,0.9756,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192V,NP_000240:p.Phe192Val,,,,,saturation,,4.47844,3.18571,3.1623730201519566,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.72,E,-0.2719,0.5154,-8.8609,loss_of_function,-4.14787889049951,0.46124912992501854,0.5660492732978094,Uncertain,0.4081,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192W,NP_000240:p.Phe192Trp,,,,,saturation,,2.93357,0.97925,1.396378392386716,Uncertain,Uncertain,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.72,E,-0.2453,0.5154,-6.5391,loss_of_function,-2.64086751293555,0.6472911461613882,0.7891559635619787,Pathogenic,0.8683,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F192Y,NP_000240:p.Phe192Tyr,,,,,saturation,,1.01137,0.88878,1.381189523933695,Neutral,Neutral,False,0.05,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.72,E,-0.2932,0.5154,-22.1488,loss_of_function,-4.33496329889819,0.4381533782518354,0.9044075490501712,Pathogenic,0.6074,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193A,NP_000240:p.Ser193Ala,,,,,saturation,,-0.27572,-0.31293,-0.3433260190773496,Neutral,Neutral,False,0.06,,,-0.02079,,,0.00094,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,-,uncertain,uncertain,neutral,,,,95.73,E,-0.0184,1.89,-4.9573,loss_of_function,-0.450176018143161,0.9177341359826413,0.0039460141117438,Benign,0.0664,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193C,NP_000240:p.Ser193Cys,,,,,saturation,,-0.05103,0.60272,0.1692435203663977,Neutral,Neutral,False,0.06,,,0.00073,,,0.002,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.0786,1.89,-6.8642,loss_of_function,-0.465409594672977,0.9158535361847292,0.0226979087099874,Benign,0.0814,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193D,NP_000240:p.Ser193Asp,,,,,saturation,,2.8453,0.82007,0.5404001336315652,Uncertain,Uncertain,False,0.06,,,0.25069,,,0.05129,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.2048,1.89,-22.1519,loss_of_function,-3.94577864844425,0.4861986008272202,0.2010410877966741,Benign,0.917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193E,NP_000240:p.Ser193Glu,,,,,saturation,,1.12566,-0.23741,0.016252266695238,Neutral,Neutral,False,0.06,,,0.10382,,,0.02396,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.178,1.89,-22.1519,loss_of_function,-3.94577864844425,0.4861986008272202,0.1937077259170594,Benign,0.9318,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193F,NP_000240:p.Ser193Phe,,,,,saturation,,5.72911,-0.22211,-1.1669382483455182,Uncertain,Uncertain,False,0.06,,,0.70873,,,0.55796,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1842,1.89,-22.1519,loss_of_function,-2.86074357527694,0.6201472330037917,0.3252145373082294,Uncertain,0.1985,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193G,NP_000240:p.Ser193Gly,,,,,saturation,,0.71469,1.33027,1.3338274509443704,Neutral,Neutral,False,0.06,,,-0.22081,,,-0.04766,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,DOWN,neutral,neutral,neutral,,,,95.73,E,-0.0475,1.89,-8.864,loss_of_function,-3.49351439373573,0.5420310617298196,0.0081218936045352,Benign,0.1291,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193H,NP_000240:p.Ser193His,,,,,saturation,,3.12268,0.92041,-0.5596912698018258,Uncertain,Uncertain,False,0.06,,,0.14602,,,0.25128,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1176,1.89,-8.864,loss_of_function,-2.4984820249144,0.6648687727597181,0.1822406456240672,Benign,0.6787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193I,NP_000240:p.Ser193Ile,,,,,saturation,,-0.13777,-0.03912,-1.254888028264152,Neutral,Neutral,False,0.06,,,0.00576,,,0.03918,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1042,1.89,-5.8642,loss_of_function,-1.14016742330915,0.83255402778044,0.0013270097013578,Benign,0.1631,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193K,NP_000240:p.Ser193Lys,,,,,saturation,,-0.1207,0.7017,-0.3331217435297362,Neutral,Neutral,False,0.06,,,-0.32431,,,-0.04309,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1269,1.89,-8.864,loss_of_function,-3.40946385623652,0.5524071821061501,0.1003809401258844,Benign,0.9758,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193L,NP_000240:p.Ser193Leu,"hg19,3:g.37053343C>T",,,0.644,"cBioPortal,saturation,clinvar",,-0.23092,-0.74864,-1.2349995406153509,Neutral,Neutral,False,0.06,,,0.04688,,,0.06673,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,652652,Uncertain significance,2,95.73,E,-0.1015,1.89,-6.0568,loss_of_function,-0.631194114625555,0.8953872763993432,0.0165072144042457,Benign,0.0794,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193M,NP_000240:p.Ser193Met,,,,,saturation,,-1.15051,-0.0466,-0.8949191487971453,Neutral,Neutral,False,0.06,,,-0.09527,,,-0.24207,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.075,1.89,-6.5422,loss_of_function,-2.29146145498368,0.6904256629104556,0.0065974619941165,Benign,0.1427,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193N,NP_000240:p.Ser193Asn,,,,,saturation,,2.32849,0.09592,-0.0132447361249116,Uncertain,Uncertain,False,0.06,,,-0.12546,,,0.02814,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1284,1.89,-22.1519,loss_of_function,-3.20003173272425,0.578261780885537,0.0340862457202539,Benign,0.3118,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193P,NP_000240:p.Ser193Pro,,,,,"saturation,clinvar",,2.62476,2.21735,2.980005217301861,Uncertain,Uncertain,False,0.06,,,-0.00845,,,0.25223,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,2673885,Likely pathogenic,1,95.73,E,-0.2596,1.89,-22.1519,loss_of_function,-4.88419708542243,0.37034993459417875,0.8068180743729831,Pathogenic,0.905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193Q,NP_000240:p.Ser193Gln,,,,,saturation,,0.47322,-0.2966,-0.2736688561069944,Neutral,Neutral,False,0.06,,,0.10006,,,-0.06829,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.0701,1.89,-6.8642,loss_of_function,-3.25747870527369,0.5711698964055079,0.0564236142749179,Benign,0.7899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193R,NP_000240:p.Ser193Arg,,,,,saturation,,0.27349,0.26327,-0.8609244304393288,Neutral,Neutral,False,0.06,,,-0.76117,,,-0.37595,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.2,1.89,-22.1519,loss_of_function,-3.88709378925474,0.49344330361361344,0.0974725157879586,Benign,0.9582,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193T,NP_000240:p.Ser193Thr,,,,,saturation,,0.31397,0.71667,-0.4739351378085654,Neutral,Neutral,False,0.06,,,-0.04798,,,-0.00552,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,neutral,,,UP,neutral,neutral,neutral,,,,95.73,E,0.0067,1.89,-1.8755,gain_of_function,-0.44793645818558,0.9180106118315922,1.0643221034703352e-05,Benign,0.0711,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193V,NP_000240:p.Ser193Val,,,,,saturation,,-0.104,0.08197,-1.1370590657500323,Neutral,Neutral,False,0.06,,,0.00339,,,0.12209,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.0666,1.89,-3.5423,loss_of_function,-2.19674202578434,0.7021188683151077,0.0059051603145815,Benign,0.1267,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193W,NP_000240:p.Ser193Trp,,,,,saturation,,10.80851,0.04762,-1.4765168264680175,Uncertain,Uncertain,False,0.06,,,0.13825,,,1.12264,Uncertain,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.1939,1.89,-22.1519,loss_of_function,-4.02223804136972,0.4767596146112987,0.7273245807136645,Pathogenic,0.5222,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S193Y,NP_000240:p.Ser193Tyr,,,,,saturation,,9.81733,-0.38027,-0.9534186344936192,Uncertain,Uncertain,False,0.06,,,0.81557,,,0.52016,Neutral,Uncertain,Uncertain,30.6,,False,30.6,,uncertain,,,UP,neutral,neutral,neutral,,,,95.73,E,-0.189,1.89,-22.1519,loss_of_function,-3.59279745148983,0.5297744719537409,0.1914196071843194,Benign,0.309,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194A,NP_000240:p.Val194Ala,,,,,saturation,,3.98264,1.98946,2.608872402638632,Uncertain,Uncertain,False,0.055,,,0.00384,,,-0.03657,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.1235,1.6742,-7.8548,loss_of_function,-0.580722310398772,0.9016180695846054,0.1498098098664509,Benign,0.4185,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194C,NP_000240:p.Val194Cys,,,,,saturation,,3.03335,1.13707,2.503474801300757,Uncertain,Uncertain,False,0.055,,,-0.00306,,,-0.05087,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.1181,1.6742,-1.3235,loss_of_function,-1.13541307485358,0.833140956708604,0.0003607511744823,Benign,0.7548,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194D,NP_000240:p.Val194Asp,,,,,saturation,,5.62289,4.90034,4.423137900773358,Destabilizing,Destabilizing,False,0.055,,,0.10013,,,-0.01192,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.363,1.6742,-22.1426,loss_of_function,-5.27664809982687,0.3219014762210025,0.6434240497099046,Uncertain,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194E,NP_000240:p.Val194Glu,,,,,saturation,,6.58519,4.09796,4.131103955596279,Destabilizing,Destabilizing,False,0.055,,,0.11546,,,-0.04121,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.73,E,-0.3203,1.6742,-22.1426,loss_of_function,-5.27664809982687,0.3219014762210025,0.6331329207317138,Uncertain,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194F,NP_000240:p.Val194Phe,,,,,saturation,,9.07179,3.07177,3.0639133691163827,Destabilizing,Destabilizing,False,0.055,,,-0.00101,,,-0.05299,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.2007,1.6742,-7.8548,loss_of_function,-2.908053098641,0.614306826458183,0.0331835771812861,Benign,0.6902,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194G,NP_000240:p.Val194Gly,,,,,"saturation,clinvar",,6.15746,4.72925,5.067235730072151,Destabilizing,Destabilizing,False,0.055,,,0.00553,,,-0.14722,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,231105,Likely pathogenic,2,96.73,E,-0.3222,1.6742,-22.1426,loss_of_function,-4.98927978993185,0.35737737280097925,0.3861523595190461,Uncertain,0.6711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194H,NP_000240:p.Val194His,,,,,saturation,,8.36934,3.83333,3.616253390046352,Destabilizing,Destabilizing,False,0.055,,,-0.00842,,,-0.19443,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.366,1.6742,-22.1426,loss_of_function,-4.29284965125753,0.4433523488998217,0.5789115429527991,Uncertain,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194I,NP_000240:p.Val194Ile,"hg19,3:g.37053345G>A, hg38,3:g.37011854G>A",,3.9787059657e-06,0.390,"cBioPortal,COSMIC,saturation,clinvar",,2.58387,0.73265,0.4498309759063001,Uncertain,Uncertain,False,0.055,,,0.00697,,,-0.06304,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1001235,Uncertain significance,2,96.73,E,-0.0642,1.6742,-8.8547,loss_of_function,-2.19165979902646,0.7027462741377066,0.0074027962269654,Benign,0.0928,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194K,NP_000240:p.Val194Lys,,,,,saturation,,8.13148,6.90374,6.190145349037439,Destabilizing,Destabilizing,False,0.055,,,-0.05906,,,-0.09234,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.2915,1.6742,-8.8547,loss_of_function,-5.47430594983534,0.297500422925729,0.5803301004816267,Uncertain,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194L,NP_000240:p.Val194Leu,,,,,saturation,,0.66894,1.23469,1.3364652818141725,Neutral,Neutral,False,0.055,,,-0.02088,,,-0.02768,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.0948,1.6742,-2.1,loss_of_function,-0.0527273841586921,0.9667995553402488,2.792216137382258e-06,Benign,0.2502,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194M,NP_000240:p.Val194Met,,,,,saturation,,2.40891,1.80034,2.27460446784942,Uncertain,Uncertain,False,0.055,,,-0.00195,,,-0.00107,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.1383,1.6742,-8.8547,loss_of_function,-2.88693195050909,0.61691425268083,0.0668722421809897,Benign,0.3441,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194N,NP_000240:p.Val194Asn,,,,,saturation,,4.13445,2.59218,2.874768004795658,Uncertain,Uncertain,False,0.055,,,0.00016,,,-0.02834,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.3509,1.6742,-22.1426,loss_of_function,-4.57294552528663,0.4087742415811526,0.7241615458360833,Pathogenic,0.9678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194P,NP_000240:p.Val194Pro,,,,,saturation,,6.44253,7.51735,6.381570918610269,Destabilizing,Destabilizing,False,0.055,,,0.01452,,,0.6677,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.4008,1.6742,-22.1426,loss_of_function,-5.47430594983534,0.297500422925729,0.4683315997271822,Uncertain,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194Q,NP_000240:p.Val194Gln,,,,,saturation,,4.35317,2.79082,3.183124720305085,Uncertain,Destabilizing,False,0.055,,,0.0083,,,0.00215,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,96.73,E,-0.331,1.6742,-22.1426,loss_of_function,-5.27664809982687,0.3219014762210025,0.6945191953267134,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194R,NP_000240:p.Val194Arg,,,,,saturation,,11.66902,8.17007,5.396857370828944,Destabilizing,Destabilizing,False,0.055,,,-0.12004,,,-0.00272,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.3803,1.6742,-22.1426,loss_of_function,-5.47430594983534,0.297500422925729,0.6074717472682417,Uncertain,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194S,NP_000240:p.Val194Ser,,,,,saturation,,5.12307,2.77313,3.7137520174626415,Uncertain,Destabilizing,False,0.055,,,0.00833,,,-0.04024,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.3001,1.6742,-22.1426,loss_of_function,-3.39716206850072,0.5539258497338491,0.637142766781169,Uncertain,0.7822,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194T,NP_000240:p.Val194Thr,,,,,saturation,,2.70865,1.67381,2.35243275416438,Uncertain,Uncertain,False,0.055,,,-0.0005,,,-0.04647,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,96.73,E,-0.2155,1.6742,-22.1426,loss_of_function,-3.07796982844319,0.5933304413589616,0.2350550761540149,Benign,0.6207,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194W,NP_000240:p.Val194Trp,,,,,saturation,,21.64068,4.19762,5.465734895209325,Destabilizing,Destabilizing,False,0.055,,,0.00802,,,-0.1406,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.3141,1.6742,-22.1426,loss_of_function,-4.29284965125753,0.4433523488998217,0.6504046677481948,Uncertain,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V194Y,NP_000240:p.Val194Tyr,,,,,saturation,,11.31857,3.96361,4.385711668926405,Destabilizing,Destabilizing,False,0.055,,,0.00521,,,0.10687,Neutral,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,96.73,E,-0.317,1.6742,-22.1426,loss_of_function,-3.98173763898537,0.48175942856767934,0.0802065673702943,Benign,0.981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195A,NP_000240:p.Lys195Ala,,,,,saturation,,1.07498,0.61497,0.1298988805224021,Neutral,Neutral,False,0.021,,,0.2631,,,1.11499,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2767,0.4923,-22.1457,loss_of_function,-4.99990163241594,0.35606609604401174,0.931171253665954,Pathogenic,0.9422,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195C,NP_000240:p.Lys195Cys,,,,,saturation,,0.8389,0.69422,0.6357318607904702,Neutral,Neutral,False,0.021,,,0.15463,,,1.20246,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3469,0.4923,-22.1457,loss_of_function,-4.99990163241594,0.35606609604401174,0.9795123307716738,Pathogenic,0.8673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195D,NP_000240:p.Lys195Asp,,,,,saturation,,3.24698,2.58844,0.7637401724603357,Uncertain,Uncertain,False,0.021,,,0.60807,,,0.92221,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3857,0.4923,-22.1457,loss_of_function,-4.98402317087328,0.3580263075222445,0.9528871374496488,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195E,NP_000240:p.Lys195Glu,,,,,"saturation,clinvar",,2.03572,1.94864,0.4231566662307706,Uncertain,Uncertain,False,0.021,,,1.15501,,,0.75443,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,964127,Uncertain significance,2,95.33,E,-0.2338,0.4923,-8.8578,loss_of_function,-4.4984338254161,0.41797278320034104,0.8719613623910687,Pathogenic,0.9319,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195F,NP_000240:p.Lys195Phe,,,,,saturation,,3.12092,-0.18435,-0.4920121364484237,Uncertain,Uncertain,False,0.021,,,0.20232,,,1.06316,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.33,E,-0.3478,0.4923,-22.1457,loss_of_function,-4.88767326811671,0.3699207964689609,0.9136615325222592,Pathogenic,0.9826,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195G,NP_000240:p.Lys195Gly,,,,,saturation,,1.76953,2.31769,1.2554121291402114,Uncertain,Neutral,False,0.021,,,0.04715,,,1.08241,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3359,0.4923,-22.1457,loss_of_function,-5.84874601027489,0.2512754342886506,0.9866952957643276,Pathogenic,0.934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195H,NP_000240:p.Lys195His,,,,,saturation,,3.1589,0.91837,-0.3002609054050531,Uncertain,Uncertain,False,0.021,,,0.57958,,,1.37632,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2868,0.4923,-22.1457,loss_of_function,-4.09929776965583,0.4672465164128305,0.919461060925375,Pathogenic,0.7439,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195I,NP_000240:p.Lys195Ile,,,,,saturation,,2.00847,-0.37245,-0.6746592023203818,Uncertain,Uncertain,False,0.021,,,-0.00518,,,0.50733,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.33,E,-0.3151,0.4923,-22.1457,loss_of_function,-3.66060045632177,0.5214041252439443,0.72691254221761,Pathogenic,0.9121,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195L,NP_000240:p.Lys195Leu,,,,,saturation,,-0.44584,-0.52007,-0.898249880209897,Neutral,Neutral,False,0.021,,,-0.19052,,,1.13581,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.33,E,-0.3138,0.4923,-22.1457,loss_of_function,-4.70579622512576,0.392373693831847,0.886079907358714,Pathogenic,0.8699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195M,NP_000240:p.Lys195Met,,,,,saturation,,-0.91214,-0.24048,-0.4638552418974717,Neutral,Neutral,False,0.021,,,-0.18057,,,0.99908,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2868,0.4923,-22.1457,loss_of_function,-4.70579622512576,0.392373693831847,0.9210459098114174,Pathogenic,0.7935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195N,NP_000240:p.Lys195Asn,,,,,"saturation,clinvar",,1.1714,1.37177,0.2311309794425359,Neutral,Neutral,False,0.021,,,0.00049,,,0.58667,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1176780,Uncertain significance,1,95.33,E,-0.295,0.4923,-22.1457,loss_of_function,-4.98402317087328,0.3580263075222445,0.9296436264560056,Pathogenic,0.9749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195P,NP_000240:p.Lys195Pro,,,,,saturation,,3.29837,2.41973,3.580554989723133,Uncertain,Destabilizing,False,0.021,,,0.21911,,,1.01868,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.451,0.4923,-22.1457,loss_of_function,-5.84874601027489,0.2512754342886506,0.9925066537127398,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195Q,NP_000240:p.Lys195Gln,,,,,"COSMIC,saturation",,0.6865,0.45034,0.0381009377767072,Neutral,Neutral,False,0.021,,,0.24009,,,0.91467,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2081,0.4923,-8.8578,loss_of_function,-3.71966712197161,0.5141122880797028,0.6130594067006221,Uncertain,0.4508,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195R,NP_000240:p.Lys195Arg,,,,,"saturation,clinvar",,0.51205,-0.13469,-0.4298311878721716,Neutral,Neutral,False,0.021,,,-0.77801,,,0.50738,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2851112,Uncertain significance,1,95.33,E,-0.1158,0.4923,-3.6101,loss_of_function,-0.51109606256054,0.9102134974119233,0.0199887092564219,Benign,0.0692,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195S,NP_000240:p.Lys195Ser,,,,,saturation,,1.01089,1.06327,0.3891282640393673,Neutral,Neutral,False,0.021,,,0.33975,,,0.809,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2869,0.4923,-22.1457,loss_of_function,-4.29443619909742,0.44315648803016744,0.7570941438280772,Pathogenic,0.9563,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195T,NP_000240:p.Lys195Thr,,,,,saturation,,0.0933,1.10646,0.0026899709003869,Neutral,Neutral,False,0.021,,,0.31796,,,0.57659,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.2987,0.4923,-22.1457,loss_of_function,-4.08394269435622,0.46914211535171735,0.6517391198670657,Uncertain,0.8569,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195V,NP_000240:p.Lys195Val,,,,,saturation,,0.83002,0.34388,-0.4543032596939228,Neutral,Neutral,False,0.021,,,0.21849,,,1.15419,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.226,0.4923,-7.8579,loss_of_function,-3.98106845092538,0.481842040482742,0.8664026777862769,Pathogenic,0.876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195W,NP_000240:p.Lys195Trp,,,,,saturation,,5.65829,0.47755,-0.8189518136735496,Uncertain,Uncertain,False,0.021,,,0.40396,,,1.25779,Uncertain,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.33,E,-0.3568,0.4923,-22.1457,loss_of_function,-4.96895935617755,0.3598859500570838,0.9578143940917804,Pathogenic,0.9536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K195Y,NP_000240:p.Lys195Tyr,,,,,saturation,,5.72464,-0.19184,-0.2786453619941337,Uncertain,Uncertain,False,0.021,,,0.91008,,,0.8351,Neutral,Uncertain,Uncertain,36.3,,False,36.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.33,E,-0.3327,0.4923,-22.1457,loss_of_function,-2.18477806269736,0.7035958311622479,0.8886745631886297,Pathogenic,0.9498,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196A,NP_000240:p.Lys196Ala,,,,,saturation,,0.65618,0.45442,0.322498488449956,Neutral,Neutral,False,0.012,,,-0.00853,,,-0.07363,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3021,0.2171,-22.1488,loss_of_function,-4.08780800201462,0.4686649393722599,0.9569893109472264,Pathogenic,0.9666,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196C,NP_000240:p.Lys196Cys,,,,,saturation,,0.73962,0.48197,0.8770769033316506,Neutral,Neutral,False,0.012,,,0.00248,,,0.01673,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3722,0.2171,-22.1488,loss_of_function,-5.37989609964097,0.3091554105019518,0.9704312432381356,Pathogenic,0.9571,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196D,NP_000240:p.Lys196Asp,,,,,saturation,,1.68669,2.09014,0.9813502853680006,Uncertain,Neutral,False,0.012,,,0.01743,,,-0.00938,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.4111,0.2171,-22.1488,loss_of_function,-4.79433743056165,0.3814431961431576,0.9657345572135838,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196E,NP_000240:p.Lys196Glu,,,,,saturation,,0.61341,1.02347,0.5786948376961404,Neutral,Neutral,False,0.012,,,0.0135,,,0.00895,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.327,0.2171,-22.1488,loss_of_function,-5.02484752061872,0.35298650194993514,0.9781541344137608,Pathogenic,0.9554,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196F,NP_000240:p.Lys196Phe,,,,,saturation,,-1.06502,-1.22721,-0.2805973928217015,Neutral,Neutral,False,0.012,,,0.00273,,,-0.02228,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.13,E,-0.3054,0.2171,-8.8609,loss_of_function,-4.20166702437143,0.45460893262849944,0.9831932568546388,Pathogenic,0.9901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196G,NP_000240:p.Lys196Gly,,,,,saturation,,1.32502,1.23401,1.4881917836012342,Neutral,Neutral,False,0.012,,,-0.00402,,,0.21862,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3612,0.2171,-22.1488,loss_of_function,-3.75419342152241,0.5098499829125083,0.974422150815997,Pathogenic,0.9486,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196H,NP_000240:p.Lys196His,,,,,saturation,,0.51319,-0.64354,-0.0339414159479034,Neutral,Neutral,False,0.012,,,0.00167,,,-0.05692,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3121,0.2171,-22.1488,loss_of_function,-4.52302630344201,0.4149368179353776,0.8797263785402387,Pathogenic,0.8029,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196I,NP_000240:p.Lys196Ile,,,,,saturation,,0.14963,-0.10612,-0.5420679263751671,Neutral,Neutral,False,0.012,,,0.01313,,,0.03535,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.13,E,-0.3404,0.2171,-22.1488,loss_of_function,-6.65831141540726,0.1513337998137328,0.9385706007604506,Pathogenic,0.9633,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196L,NP_000240:p.Lys196Leu,,,,,saturation,,-0.81439,-1.04048,-0.9723967445001152,Neutral,Neutral,False,0.012,,,0.00288,,,0.01658,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.13,E,-0.3391,0.2171,-22.1488,loss_of_function,-6.65831141540726,0.1513337998137328,0.9632667452187704,Pathogenic,0.8977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196M,NP_000240:p.Lys196Met,,,,,saturation,,-1.0517,-0.74898,-0.3402549511799113,Neutral,Neutral,False,0.012,,,0.00195,,,0.00429,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3121,0.2171,-22.1488,loss_of_function,-6.65831141540726,0.1513337998137328,0.9765841611341864,Pathogenic,0.8858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196N,NP_000240:p.Lys196Asn,,,,,saturation,,-0.16287,0.28878,0.4882357659531039,Neutral,Neutral,False,0.012,,,0.00374,,,0.01446,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3203,0.2171,-22.1488,loss_of_function,-4.33167742519316,0.4385590225477465,0.8854130206103095,Pathogenic,0.9732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196P,NP_000240:p.Lys196Pro,,,,,saturation,,-1.17483,-0.03231,2.8339621125420376,Neutral,Uncertain,False,0.012,,,-0.03819,,,-0.34445,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.4764,0.2171,-22.1488,loss_of_function,-6.65831141540726,0.1513337998137328,0.994729799492457,Pathogenic,0.9659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196Q,NP_000240:p.Lys196Gln,,,,,saturation,,0.00722,-0.00884,0.3163329604158332,Neutral,Neutral,False,0.012,,,0.00261,,,-0.00244,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.2335,0.2171,-8.8609,loss_of_function,-3.06185888016224,0.595319353550529,0.7957298670323468,Pathogenic,0.6421,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196R,NP_000240:p.Lys196Arg,,,,,saturation,,-0.29388,-0.57925,-0.2461055242966325,Neutral,Neutral,False,0.012,,,-0.00183,,,-0.01256,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.13,E,-0.1496,0.2171,-5.2761,loss_of_function,-2.38613821218561,0.6787377254052719,0.1535965803143218,Benign,0.0949,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196S,NP_000240:p.Lys196Ser,,,,,saturation,,1.11169,0.97483,0.9277563596872074,Neutral,Neutral,False,0.012,,,0.00177,,,-0.15961,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3122,0.2171,-22.1488,loss_of_function,-3.63493300860011,0.5245727965604796,0.9270772829272188,Pathogenic,0.9768,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196T,NP_000240:p.Lys196Thr,,,,,"saturation,clinvar",,1.38999,0.0534,0.5136175801182549,Neutral,Neutral,False,0.012,,,0.00685,,,0.25721,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,232595,Uncertain significance,2,95.13,E,-0.324,0.2171,-22.1488,loss_of_function,-4.89848604001773,0.3685859492902877,0.9715711990905675,Pathogenic,0.947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196V,NP_000240:p.Lys196Val,,,,,saturation,,0.64366,0.11327,-0.2995166454393716,Neutral,Neutral,False,0.012,,,0.00107,,,0.49474,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.13,E,-0.3243,0.2171,-22.1488,loss_of_function,-6.65831141540726,0.1513337998137328,0.9575381208410076,Pathogenic,0.9419,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196W,NP_000240:p.Lys196Trp,,,,,saturation,,0.723,-1.68061,-0.6522699771489893,Neutral,Neutral,False,0.012,,,0.00162,,,-0.00527,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.13,E,-0.3822,0.2171,-22.1488,loss_of_function,-5.96286298620786,0.23718758292571956,0.988270183796115,Pathogenic,0.9788,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K196Y,NP_000240:p.Lys196Tyr,,,,,saturation,,-1.15216,-0.48435,-0.1146279621101153,Neutral,Neutral,False,0.012,,,0.00145,,,0.03635,Neutral,Uncertain,Uncertain,45.5,,False,45.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.13,E,-0.358,0.2171,-22.1488,loss_of_function,-5.96286298620786,0.23718758292571956,0.9828676357238068,Pathogenic,0.9628,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197A,NP_000240:p.Gln197Ala,,,,,saturation,,0.14408,0.22177,0.5991609561510591,Neutral,Neutral,False,0.012,,,-0.12128,,,0.05327,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,0.0256,2.463,-2.858,gain_of_function,-1.48694539612093,0.7897439506909415,0.0267544614687149,Benign,0.1151,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197C,NP_000240:p.Gln197Cys,,,,,saturation,,-0.08591,0.6102,1.2458060207362014,Neutral,Neutral,False,0.012,,,-0.05687,,,0.3528,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.119,2.463,-22.1457,loss_of_function,-2.11088529546274,0.7127179649472198,0.6649461616799316,Uncertain,0.4109,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197D,NP_000240:p.Gln197Asp,,,,,saturation,,-0.00694,0.14592,1.0037609007093309,Neutral,Neutral,False,0.012,,,0.10065,,,-0.42371,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.0864,2.463,-7.8579,loss_of_function,-1.88473238290302,0.7406367613522935,0.3751292822902562,Uncertain,0.5832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197E,NP_000240:p.Gln197Glu,,,,,"saturation,clinvar",,-0.01971,0.02993,0.6840765918186883,Neutral,Neutral,False,0.012,,,0.15307,,,-0.14402,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,826038,Uncertain significance,1,92.61,T,-0.005,2.463,-7.8579,loss_of_function,-2.22404365391411,0.6987484558421718,0.6129903317080788,Uncertain,0.182,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197F,NP_000240:p.Gln197Phe,,,,,saturation,,-0.62089,-0.85408,0.1376567961271246,Neutral,Neutral,False,0.012,,,-0.02612,,,-0.6267,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0337,2.463,-3.858,loss_of_function,-1.23853670277928,0.8204102448198066,0.0032618172861139,Benign,0.3399,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197G,NP_000240:p.Gln197Gly,,,,,saturation,,1.10148,1.65,1.6623404097840684,Neutral,Neutral,False,0.012,,,-0.14553,,,0.41085,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.0756,2.463,-8.8578,loss_of_function,-2.74632561836863,0.6342722407600552,0.506270530645135,Uncertain,0.2088,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197H,NP_000240:p.Gln197His,,,,,"saturation,clinvar",,0.13323,0.02585,0.568130161911052,Neutral,Neutral,False,0.012,,,0.17886,,,-0.22161,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2732979,Uncertain significance,1,92.61,T,0.0282,2.463,-2.1437,gain_of_function,-0.13328864329572,0.9568541897620402,0.0006273639486415,Benign,0.1482,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197I,NP_000240:p.Gln197Ile,,,,,saturation,,-0.38348,-0.08639,0.2426486605860456,Neutral,Neutral,False,0.012,,,-0.1879,,,-0.10042,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0304,2.463,-6.858,loss_of_function,-2.33622716284669,0.6848992928557416,0.1017905058179821,Benign,0.2034,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197K,NP_000240:p.Gln197Lys,,,,,saturation,,-0.64412,-0.19048,0.5928012256904388,Neutral,Neutral,False,0.012,,,-0.0757,,,0.15555,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.1059,2.463,-22.1457,loss_of_function,-2.85712867804997,0.6205934955726119,0.2593500197839915,Benign,0.2887,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197L,NP_000240:p.Gln197Leu,,,,,saturation,,-1.23144,-0.61054,-0.1734297397960865,Neutral,Neutral,False,0.012,,,-0.03549,,,-0.16644,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0121,2.463,-6.536,loss_of_function,-1.78303739480791,0.7531911062683423,0.0784043848838603,Benign,0.0806,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197M,NP_000240:p.Gln197Met,,,,,saturation,,-0.76788,-0.12551,0.241153892089192,Neutral,Neutral,False,0.012,,,-0.05106,,,-0.16686,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,0.0153,2.463,-6.858,gain_of_function,-1.60700580689593,0.7749223765321227,0.2230868643759838,Benign,0.1688,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197N,NP_000240:p.Gln197Asn,,,,,saturation,,0.06306,0.4466,0.7381501620717579,Neutral,Neutral,False,0.012,,,0.0009,,,0.34751,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.0884,2.463,-22.1457,loss_of_function,-1.50719978431406,0.7872435268234222,0.6049917591211823,Uncertain,0.2153,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197P,NP_000240:p.Gln197Pro,,,,,"saturation,clinvar",,1.73342,2.09014,3.984331912119961,Uncertain,Uncertain,False,0.012,,,-0.03979,,,0.25456,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,2558683,Uncertain significance,1,92.61,T,-0.1786,2.463,-8.8578,loss_of_function,-1.91289235828319,0.7371603850787699,0.6576172397338393,Uncertain,0.1639,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197R,NP_000240:p.Gln197Arg,,,,,saturation,,-0.36836,0.45952,0.3234175808581774,Neutral,Neutral,False,0.012,,,-0.00453,,,-0.29038,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0367,2.463,-8.8578,loss_of_function,-3.36407470187995,0.5580105172351856,0.7659416412921681,Pathogenic,0.2807,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197S,NP_000240:p.Gln197Ser,,,,,saturation,,0.65804,0.5398,1.1445461963034922,Neutral,Neutral,False,0.012,,,-0.05228,,,0.2711,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.0081,2.463,-5.858,loss_of_function,-1.47675293724613,0.7910022196248757,0.0378301607935738,Benign,0.1552,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197T,NP_000240:p.Gln197Thr,,,,,saturation,,0.67286,0.69422,1.0439146097240375,Neutral,Neutral,False,0.012,,,-0.08315,,,0.28406,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.61,T,-0.0201,2.463,-6.273,loss_of_function,-1.9795596368563,0.7289302448771863,0.4155296036849584,Uncertain,0.1552,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197V,NP_000240:p.Gln197Val,,,,,saturation,,-0.92409,-0.29116,0.3788059989745879,Neutral,Neutral,False,0.012,,,-0.04831,,,0.24995,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.61,T,-0.0223,2.463,-5.273,loss_of_function,-0.947422131086205,0.8563486210523167,0.0261419439222599,Benign,0.1294,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197W,NP_000240:p.Gln197Trp,,,,,saturation,,-0.61954,-0.03707,-0.1913325268374055,Neutral,Neutral,False,0.012,,,0.15633,,,-0.26436,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0586,2.463,-8.8578,loss_of_function,-2.61121953378513,0.6509512179435893,0.8705999993915406,Pathogenic,0.4733,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q197Y,NP_000240:p.Gln197Tyr,,,,,saturation,,-0.62276,-0.39728,0.3679472608188028,Neutral,Neutral,False,0.012,,,0.2037,,,-0.17609,Neutral,Uncertain,Uncertain,45.4,,False,45.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.61,T,-0.0426,2.463,-5.1575,loss_of_function,-1.00260273403361,0.8495365220978494,0.0257938808331566,Benign,0.243,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198A,NP_000240:p.Gly198Ala,,,,,saturation,,3.72863,1.71633,1.996142456983789,Uncertain,Uncertain,False,0.012,,,0.02241,,,0.02215,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.2468,0.7458,-8.8702,loss_of_function,-3.29090740226383,0.5670430913390103,0.7153762414432633,Pathogenic,0.2321,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198C,NP_000240:p.Gly198Cys,,,,,saturation,,3.79109,2.17313,2.3315767331043458,Uncertain,Uncertain,False,0.012,,,0.02241,,,0.03497,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3066,0.7458,-8.8702,loss_of_function,-4.6799508622173,0.3955643289507557,0.971374959749342,Pathogenic,0.3631,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198D,NP_000240:p.Gly198Asp,,,,,saturation,,3.89672,0.08946,1.4322911299754566,Uncertain,Uncertain,False,0.012,,,-0.02455,,,-0.00703,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.299,0.7458,-7.2854,loss_of_function,-2.42825972593102,0.6735377836790248,0.2148283732458845,Benign,0.7101,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198E,NP_000240:p.Gly198Glu,,,,,"saturation,clinvar",,3.7996,0.91429,1.83482741665308,Uncertain,Uncertain,False,0.012,,,-0.01477,,,0.00218,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,483598,Uncertain significance,1,89.58,T,-0.2983,0.7458,-7.2854,loss_of_function,-3.3176443355926,0.563742390986965,0.6006275423248032,Uncertain,0.7101,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198F,NP_000240:p.Gly198Phe,,,,,saturation,,3.76848,0.73027,1.3727246020921695,Uncertain,Uncertain,False,0.012,,,0.02075,,,-0.10722,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4125,0.7458,-22.1581,loss_of_function,-5.55316871991169,0.28776473746945475,0.9806075265468894,Pathogenic,0.8,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198H,NP_000240:p.Gly198His,,,,,saturation,,3.9228,0.7585,1.1372993188417206,Uncertain,Uncertain,False,0.012,,,0.0224,,,-0.06057,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3872,0.7458,-22.1581,loss_of_function,-4.9850125684867,0.35790416542723413,0.8083593902312819,Pathogenic,0.7412,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198I,NP_000240:p.Gly198Ile,,,,,saturation,,4.69659,5.51156,3.1135425194680413,Destabilizing,Destabilizing,False,0.012,,,0.01652,,,0.06636,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4582,0.7458,-22.1581,loss_of_function,-5.62111146841584,0.279377139267784,0.973921687869762,Pathogenic,0.6074,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198K,NP_000240:p.Gly198Lys,,,,,saturation,,3.73526,1.23741,1.616504527010222,Uncertain,Uncertain,False,0.012,,,0.02282,,,0.01015,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3342,0.7458,-7.8703,loss_of_function,-3.92051925133412,0.4893168978999869,0.4891732726515668,Uncertain,0.908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198L,NP_000240:p.Gly198Leu,,,,,saturation,,3.85359,1.54762,1.600218472850438,Uncertain,Uncertain,False,0.012,,,0.02734,,,0.02604,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4264,0.7458,-22.1581,loss_of_function,-4.8057047008673,0.3800398955986153,0.948909555167614,Pathogenic,0.6311,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198M,NP_000240:p.Gly198Met,,,,,saturation,,3.72266,2.1119,1.6736637511740662,Uncertain,Uncertain,False,0.012,,,0.04219,,,-0.04747,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3646,0.7458,-22.1581,loss_of_function,-5.62111146841584,0.279377139267784,0.9515180017751494,Pathogenic,0.5825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198N,NP_000240:p.Gly198Asn,,,,,saturation,,3.78762,0.50408,1.1089689197627777,Uncertain,Uncertain,False,0.012,,,0.03175,,,0.0233,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.2921,0.7458,-5.8704,loss_of_function,-2.5948630482374,0.6529704419488916,0.0597072348773282,Benign,0.3271,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198P,NP_000240:p.Gly198Pro,,,,,saturation,,6.58392,18.31224,7.253861950083964,Destabilizing,Destabilizing,False,0.012,,,0.03769,,,0.00158,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4723,0.7458,-22.1581,loss_of_function,-5.64292771565648,0.27668390238597584,0.942583075731764,Pathogenic,0.9532,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198Q,NP_000240:p.Gly198Gln,,,,,saturation,,3.3715,1.53912,1.900026667210296,Uncertain,Uncertain,False,0.012,,,0.03292,,,0.06536,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3103,0.7458,-8.8702,loss_of_function,-3.17661558414756,0.5811525271390522,0.6051870772526846,Uncertain,0.6573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198R,NP_000240:p.Gly198Arg,,,,,saturation,,3.6827,1.56565,1.4916559958291375,Uncertain,Uncertain,False,0.012,,,0.04392,,,0.02083,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3057,0.7458,-5.4109,loss_of_function,-1.9098773752623,0.7375325876569824,0.414769464668529,Uncertain,0.846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198S,NP_000240:p.Gly198Ser,,,,,saturation,,3.8762,1.36463,1.917572627490605,Uncertain,Uncertain,False,0.012,,,0.01775,,,-0.05188,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.2328,0.7458,-4.9635,loss_of_function,-2.65738536929172,0.6452520007732677,0.4454274777268551,Uncertain,0.1491,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198T,NP_000240:p.Gly198Thr,,,,,saturation,,4.83363,1.44014,2.6520612056708672,Uncertain,Uncertain,False,0.012,,,0.03468,,,-0.01764,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3296,0.7458,-8.8702,loss_of_function,-3.52588935672331,0.5380343411479728,0.291561826384347,Benign,0.287,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198V,NP_000240:p.Gly198Val,,,,,saturation,,4.72711,5.56769,3.07844853321778,Destabilizing,Destabilizing,False,0.012,,,0.03254,,,-0.04198,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.3336,0.7458,-8.8702,loss_of_function,-5.62111146841584,0.279377139267784,0.942134816280737,Pathogenic,0.4376,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198W,NP_000240:p.Gly198Trp,,,,,saturation,,3.77626,1.51429,1.2905095136817548,Uncertain,Uncertain,False,0.012,,,0.03213,,,0.08567,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4123,0.7458,-22.1581,loss_of_function,-5.55316871991169,0.28776473746945475,0.9743393086788948,Pathogenic,0.7114,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G198Y,NP_000240:p.Gly198Tyr,,,,,saturation,,3.77372,0.87007,1.4788775543941912,Uncertain,Uncertain,False,0.012,,,0.02076,,,-0.07323,Neutral,Uncertain,Uncertain,118.9,,True,118.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.58,T,-0.4129,0.7458,-22.1581,loss_of_function,-5.55316871991169,0.28776473746945475,0.9731363659035848,Pathogenic,0.6915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199A,NP_000240:p.Glu199Ala,,,,,saturation,,-0.03374,0.10986,0.4122372339703523,Neutral,Neutral,False,0.012,,,-0.03387,,,0.00026,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.047,2.0057,-4.7829,loss_of_function,-1.52778654599503,0.7847020711264544,0.0748853721154856,Benign,0.329,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199C,NP_000240:p.Glu199Cys,,,,,saturation,,0.25435,0.71973,0.999814632535112,Neutral,Neutral,False,0.012,,,-0.05642,,,-0.07551,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.2051,2.0057,-22.1581,loss_of_function,-2.96033860242787,0.60785213030309,0.97322464460994,Pathogenic,0.9112,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199D,NP_000240:p.Glu199Asp,,,,,saturation,,-0.46542,-0.16156,0.4173272442445613,Neutral,Neutral,False,0.012,,,0.02723,,,0.03995,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.0008,2.0057,-2.4441,loss_of_function,-0.258712368987991,0.9413705091747135,0.0044965677194767,Benign,0.0803,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199F,NP_000240:p.Glu199Phe,,,,,saturation,,0.00427,0.30884,-0.0890700154526791,Neutral,Neutral,False,0.012,,,0.01987,,,0.00925,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1149,2.0057,-8.8702,loss_of_function,-4.08311324635687,0.4692445115117329,0.9542070807984512,Pathogenic,0.9031,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199G,NP_000240:p.Glu199Gly,,,,,saturation,,0.7366,1.18401,1.2754899657254466,Neutral,Neutral,False,0.012,,,0.03744,,,0.04308,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.0818,2.0057,-6.5484,loss_of_function,-1.25997717737968,0.8177633974349043,0.4794127894407126,Uncertain,0.2678,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199H,NP_000240:p.Glu199His,,,,,saturation,,0.37507,0.74048,-0.054542342728841,Neutral,Neutral,False,0.012,,,0.04726,,,0.25589,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1062,2.0057,-8.8702,loss_of_function,-2.98133655307016,0.6052599129300279,0.6425361074840249,Uncertain,0.8311,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199I,NP_000240:p.Glu199Ile,,,,,saturation,,-0.07305,0.51088,-0.1185345884407829,Neutral,Neutral,False,0.012,,,0.05701,,,-0.00723,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.188,2.0057,-22.1581,loss_of_function,-3.3473161829897,0.5600793726465609,0.7870543002686924,Pathogenic,0.6848,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199K,NP_000240:p.Glu199Lys,"hg19,3:g.37053508G>A, hg38,3:g.37012017G>A",,3.9793076005e-06,0.730,"cBioPortal,COSMIC,saturation,clinvar",,-0.0126,0.52925,0.4866393344944003,Neutral,Neutral,False,0.012,,,0.03981,,,0.16865,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2902624,Uncertain significance,2,92.48,-,-0.0848,2.0057,-7.8703,loss_of_function,-3.11290839106949,0.5890172419152356,0.8004509071047858,Pathogenic,0.5775,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199L,NP_000240:p.Glu199Leu,,,,,saturation,,-0.22709,-0.22449,-0.3187619313934992,Neutral,Neutral,False,0.012,,,0.02337,,,-0.03545,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1902,2.0057,-22.1581,loss_of_function,-3.19477030014155,0.5789113098410248,0.8748880669736001,Pathogenic,0.6996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199M,NP_000240:p.Glu199Met,,,,,saturation,,-0.32957,0.27211,0.0353057605846141,Neutral,Neutral,False,0.012,,,0.00203,,,0.01241,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.139,2.0057,-22.1581,loss_of_function,-3.1725881773808,0.5816497144106594,0.8269986433979276,Pathogenic,0.731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199N,NP_000240:p.Glu199Asn,,,,,saturation,,0.06032,-0.1017,0.5161522222717485,Neutral,Neutral,False,0.012,,,0.03018,,,0.04571,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.0798,2.0057,-6.063,loss_of_function,-1.74224901910686,0.7582264708099798,0.3104578887098015,Benign,0.3244,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199P,NP_000240:p.Glu199Pro,,,,,saturation,,0.32215,5.53776,2.8958583108261826,Uncertain,Uncertain,False,0.012,,,0.02231,,,-0.05726,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.2927,2.0057,-22.1581,loss_of_function,-3.75637187187271,0.5095810511038474,0.8595292884116461,Pathogenic,0.9396,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199Q,NP_000240:p.Glu199Gln,,,,,"saturation,clinvar",,0.11837,-0.67449,0.2015683206668028,Neutral,Neutral,False,0.012,,,0.02345,,,0.22034,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90293,Conflicting classifications of pathogenicity,1,92.48,-,-0.0251,2.0057,-5.8704,loss_of_function,-0.591572475700531,0.9002786061543425,0.0900506209843525,Benign,0.3841,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199R,NP_000240:p.Glu199Arg,,,,,saturation,,-0.08194,-0.15272,0.1397184152886643,Neutral,Neutral,False,0.012,,,0.04149,,,-0.16307,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1453,2.0057,-7.8703,loss_of_function,-2.51323483072602,0.6630475245732751,0.7312658911160335,Pathogenic,0.7535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199S,NP_000240:p.Glu199Ser,,,,,saturation,,0.1242,0.43844,0.7097628764216309,Neutral,Neutral,False,0.012,,,0.02265,,,0.04604,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.0521,2.0057,-3.1424,loss_of_function,-1.55228818900102,0.7816773195328025,0.079130074331282,Benign,0.3063,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199T,NP_000240:p.Glu199Thr,,,,,saturation,,0.23749,0.31395,0.3457167564397523,Neutral,Neutral,False,0.012,,,-0.0887,,,0.04946,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.48,-,-0.0768,2.0057,-4.8704,loss_of_function,-1.81130162164353,0.7497018600515283,0.2239631630933701,Benign,0.4413,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199V,NP_000240:p.Glu199Val,,,,,saturation,,0.27582,0.09898,0.0200831401766743,Neutral,Neutral,False,0.012,,,0.02715,,,0.13254,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.48,-,-0.076,2.0057,-7.8703,loss_of_function,-3.03712925844618,0.5983722493370595,0.5356913886183974,Uncertain,0.4709,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199W,NP_000240:p.Glu199Trp,,,,,saturation,,-0.01759,-0.49966,-0.3604995274500783,Neutral,Neutral,False,0.012,,,0.02476,,,0.082,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1928,2.0057,-22.1581,loss_of_function,-4.08311324635687,0.4692445115117329,0.9578237520535696,Pathogenic,0.9774,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E199Y,NP_000240:p.Glu199Tyr,,,,,saturation,,0.10104,0.13878,0.0509134291329405,Neutral,Neutral,False,0.012,,,0.03397,,,0.1854,Neutral,Uncertain,Uncertain,51.2,,True,51.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.48,-,-0.1835,2.0057,-22.1581,loss_of_function,-4.08311324635687,0.4692445115117329,0.9584147124560914,Pathogenic,0.8438,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200A,NP_000240:p.Thr200Ala,,,,,"saturation,clinvar",,-0.14463,0.58741,0.1156890624677803,Neutral,Neutral,False,0.028,,,0.01365,,,0.10839,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,DOWN,neutral,mixed_effects,neutral,1332090,Uncertain significance,2,87.8,S,0.0171,2.6244,-2.9604,gain_of_function,-1.02551276919783,0.8467082560359916,0.0023629144701395,Benign,0.0758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200C,NP_000240:p.Thr200Cys,,,,,saturation,,0.02158,1.1102,0.8054209472629575,Neutral,Neutral,False,0.028,,,-0.01658,,,0.06937,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,DOWN,neutral,mixed_effects,neutral,,,,87.8,S,-0.1167,2.6244,-22.155,loss_of_function,-2.71810544532596,0.637756048493401,0.4126841561558743,Uncertain,0.4036,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200D,NP_000240:p.Thr200Asp,,,,,saturation,,-0.16602,-0.11871,-0.1863088490697512,Neutral,Neutral,False,0.028,,,0.08579,,,-0.02074,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,87.8,S,-0.1286,2.6244,-8.8671,loss_of_function,-1.54428117593262,0.7826657930622353,0.0179919104337043,Benign,0.7106,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200E,NP_000240:p.Thr200Glu,,,,,saturation,,-0.18506,-0.06293,-0.30274673100665,Neutral,Neutral,False,0.028,,,0.03614,,,0.36032,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.1718,2.6244,-22.155,loss_of_function,-2.74230734806343,0.6347683001266211,0.1336286414464612,Benign,0.7148,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200F,NP_000240:p.Thr200Phe,,,,,saturation,,0.02465,0.52721,-0.0647085120361429,Neutral,Neutral,False,0.028,,,-0.53769,,,-0.40453,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.1881,2.6244,-22.155,loss_of_function,-3.58588052307584,0.530628373475295,0.2934514593297619,Benign,0.3252,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200G,NP_000240:p.Thr200Gly,,,,,saturation,,-0.05591,0.95102,0.5469442250549386,Neutral,Neutral,False,0.028,,,-0.06808,,,0.09168,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,DOWN,neutral,mixed_effects,neutral,,,,87.8,S,-0.0704,2.6244,-5.6973,loss_of_function,-2.33212163735067,0.6854061239602447,0.0027443853491715,Benign,0.1733,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200H,NP_000240:p.Thr200His,,,,,saturation,,0.06833,0.21905,-0.2761394729896549,Neutral,Neutral,False,0.028,,,0.01987,,,-0.03786,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.0925,2.6244,-7.2823,loss_of_function,-3.28837475767936,0.5673557487694184,0.0579701413414537,Benign,0.4123,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200I,NP_000240:p.Thr200Ile,,,,,"saturation,clinvar",,-0.04835,0.60544,-0.0568059510640295,Neutral,Neutral,False,0.028,,,0.00344,,,-0.2296,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,1365675,Uncertain significance,1,87.8,S,-0.0237,2.6244,-5.8673,loss_of_function,-1.93936583952267,0.7338922081426741,0.0346996853206714,Benign,0.1792,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200K,NP_000240:p.Thr200Lys,,,,,saturation,,-0.21861,0.05306,-0.1681024699367506,Neutral,Neutral,False,0.028,,,-0.07155,,,-0.1594,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.0911,2.6244,-7.8672,loss_of_function,-2.55619545456619,0.6577439938919627,0.0065120474966117,Benign,0.6116,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200L,NP_000240:p.Thr200Leu,,,,,saturation,,-0.30201,0.16293,-0.3259215348001787,Neutral,Neutral,False,0.028,,,0.00646,,,-0.00161,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.0858,2.6244,-7.8672,loss_of_function,-2.44050859210601,0.6720256492693376,0.0285558670110911,Benign,0.0951,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200M,NP_000240:p.Thr200Met,,,,,saturation,,-0.11866,0.88197,0.0314663050815938,Neutral,Neutral,False,0.028,,,-0.10535,,,-0.41243,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.0374,2.6244,-4.8673,loss_of_function,-1.06334468128335,0.8420378697952159,0.0311985236653229,Benign,0.0635,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200N,NP_000240:p.Thr200Asn,,,,,saturation,,-0.07161,0.15374,-0.0552511898357055,Neutral,Neutral,False,0.028,,,-0.03261,,,0.23091,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,87.8,S,-0.0388,2.6244,-3.0093,loss_of_function,-1.00769270288579,0.8489081605061999,6.641789007082095e-05,Benign,0.1038,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200P,NP_000240:p.Thr200Pro,,,,,"saturation,clinvar",,-0.50503,0.08367,0.5832603496363464,Neutral,Neutral,False,0.028,,,-0.00704,,,0.09536,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,-,uncertain,uncertain,neutral,2839396,Uncertain significance,1,87.8,S,-0.1537,2.6244,-4.2234,loss_of_function,-1.93825365536489,0.7340295083556785,0.001391167054997,Benign,0.1129,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200Q,NP_000240:p.Thr200Gln,,,,,saturation,,-0.10496,0.12313,0.088788266056714,Neutral,Neutral,False,0.028,,,-0.0702,,,-0.21951,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.065,2.6244,-6.2823,loss_of_function,-2.14513754305424,0.7084894917602087,0.0018727197600222,Benign,0.3967,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200R,NP_000240:p.Thr200Arg,,,,,saturation,,-0.39473,0.55,-0.19010517051601,Neutral,Neutral,False,0.028,,,-0.05855,,,-0.3348,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.1668,2.6244,-22.155,loss_of_function,-2.61733622809764,0.6501961060980236,0.0737809943631731,Benign,0.5598,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200S,NP_000240:p.Thr200Ser,,,,,saturation,,-0.2078,0.1466,-0.03184610835601,Neutral,Neutral,False,0.028,,,-0.0151,,,-0.06785,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,neutral,,,DOWN,neutral,mixed_effects,neutral,,,,87.8,S,0.0562,2.6244,-2.4079,gain_of_function,-0.742010212750559,0.8817069216033835,3.722936465972697e-05,Benign,0.1051,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200V,NP_000240:p.Thr200Val,,,,,saturation,,0.06028,0.47687,0.0040468046514141,Neutral,Neutral,False,0.028,,,0.00097,,,-0.03068,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.0147,2.6244,-6.5453,loss_of_function,-2.22253763900116,0.6989343748438851,0.0077452769750922,Benign,0.1247,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200W,NP_000240:p.Thr200Trp,,,,,saturation,,-0.06891,0.81769,-0.4600760950301014,Neutral,Neutral,False,0.028,,,-0.3934,,,-0.95668,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.181,2.6244,-22.155,loss_of_function,-3.92216773380381,0.4891133911402123,0.5898369641707338,Uncertain,0.7413,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T200Y,NP_000240:p.Thr200Tyr,,,,,saturation,,0.02226,0.29524,-0.0801771064748235,Neutral,Neutral,False,0.028,,,-0.3662,,,-0.20039,Neutral,Uncertain,Uncertain,103.8,,True,103.8,,uncertain,,,UP,neutral,neutral,neutral,,,,87.8,S,-0.1896,2.6244,-22.155,loss_of_function,-3.92216773380381,0.4891133911402123,0.3445751561786613,Uncertain,0.4331,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201A,NP_000240:p.Val201Ala,"hg19,3:g.37053515T>C",,,0.476,"cBioPortal,saturation,clinvar",,-0.35038,0.44388,0.2240230264201703,Neutral,Neutral,False,0.066,,,-0.04852,,,0.0149,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,231634,Uncertain significance,2,90.74,S,0.0052,2.8907,-4.5562,gain_of_function,-0.133571285026135,0.9568192973662815,,,0.0896,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201C,NP_000240:p.Val201Cys,,,,,saturation,,-0.08542,0.80238,0.9854333467610262,Neutral,Neutral,False,0.066,,,-0.02206,,,0.00146,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.0443,2.8907,-8.804,loss_of_function,-2.04816460653269,0.7204608948295029,,,0.6097,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201D,NP_000240:p.Val201Asp,,,,,saturation,,-0.37121,0.08912,0.0958440344134708,Neutral,Neutral,False,0.066,,,-0.14412,,,0.01897,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.1779,2.8907,-7.8041,loss_of_function,-2.18471022583604,0.7036042056885738,,,0.625,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201E,NP_000240:p.Val201Glu,,,,,saturation,,-0.6255,0.19388,-0.0505125772575881,Neutral,Neutral,False,0.066,,,-0.22779,,,-0.44067,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.74,S,-0.2081,2.8907,-22.0918,loss_of_function,-2.46778764504724,0.6686580237253229,,,0.5856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201F,NP_000240:p.Val201Phe,,,,,saturation,,-0.20884,0.46973,-0.0732127769480112,Neutral,Neutral,False,0.066,,,-0.15466,,,0.0596,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.0936,2.8907,-8.804,loss_of_function,-2.31816785642059,0.6871287317500737,,,0.1459,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201G,NP_000240:p.Val201Gly,,,,,saturation,,-0.18584,0.13333,0.8204912317616858,Neutral,Neutral,False,0.066,,,-0.04808,,,-0.01118,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.1177,2.8907,-3.9968,loss_of_function,-1.42214097162431,0.7977441197499684,,,0.1121,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201H,NP_000240:p.Val201His,,,,,saturation,,-0.04473,-0.15408,-0.0524558526228102,Neutral,Neutral,False,0.066,,,-0.05108,,,-0.16279,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.1742,2.8907,-6.4822,loss_of_function,-2.18162654221948,0.7039848894219557,,,0.586,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201I,NP_000240:p.Val201Ile,,,,,saturation,,-0.13721,0.11599,-0.0274015530201077,Neutral,Neutral,False,0.066,,,-0.06304,,,0.00878,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,0.0582,2.8907,-6.8041,gain_of_function,-0.221512231356685,0.9459629022463478,,,0.0756,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201K,NP_000240:p.Val201Lys,,,,,saturation,,-0.59349,0.21735,0.1400376365040628,Neutral,Neutral,False,0.066,,,0.05141,,,0.01439,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.1691,2.8907,-6.8041,loss_of_function,-0.982173294190159,0.8520585562613864,,,0.6343,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201L,NP_000240:p.Val201Leu,,,,,"saturation,clinvar",,-0.27807,0.39524,-0.1667954862252341,Neutral,Neutral,False,0.066,,,-0.0063,,,0.04084,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"1751126, 186017","Uncertain significance, Uncertain significance","1, 2",90.74,S,0.005,2.8907,-4.4822,gain_of_function,-0.374606034995884,0.9270633236987912,,,0.1166,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201M,NP_000240:p.Val201Met,,,,,saturation,,-0.17002,0.9119,0.1536717003096477,Neutral,Neutral,False,0.066,,,0.00726,,,-0.09746,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.0037,2.8907,-4.4118,loss_of_function,-0.23967774134898,0.9437203524187603,,,0.0789,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201N,NP_000240:p.Val201Asn,,,,,saturation,,-0.2715,0.21565,0.2137715497559655,Neutral,Neutral,False,0.066,,,0.09768,,,-0.20641,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.1566,2.8907,-5.9968,loss_of_function,-1.35927178016881,0.8055053824130535,,,0.1907,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201P,NP_000240:p.Val201Pro,,,,,saturation,,-0.31771,3.68605,1.3720198053849602,Uncertain,Neutral,False,0.066,,,-0.05292,,,0.0347,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.2208,2.8907,-8.804,loss_of_function,-3.84490306882606,0.49865178897203505,,,0.4449,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201Q,NP_000240:p.Val201Gln,,,,,saturation,,-0.62729,-0.34082,0.3279154173449788,Neutral,Neutral,False,0.066,,,-0.02111,,,0.01005,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.74,S,-0.1333,2.8907,-5.3447,loss_of_function,-1.96716807420015,0.7304599953058765,,,0.3704,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201R,NP_000240:p.Val201Arg,,,,,saturation,,-0.78675,0.18741,0.0568829624859323,Neutral,Neutral,False,0.066,,,0.09146,,,0.0318,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.1826,2.8907,-5.3447,loss_of_function,-1.51058574553532,0.786825526626556,,,0.6088,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201S,NP_000240:p.Val201Ser,,,,,saturation,,-0.18353,0.13503,0.2380934550381769,Neutral,Neutral,False,0.066,,,-0.03397,,,-0.00229,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.0867,2.8907,-2.265,loss_of_function,-0.301290947644415,0.9361141423418866,,,0.1082,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201T,NP_000240:p.Val201Thr,,,,,saturation,,-0.11174,0.12347,0.2279866815629272,Neutral,Neutral,False,0.066,,,0.01946,,,-0.02424,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,90.74,S,-0.006,2.8907,-3.0228,loss_of_function,-0.343740795071837,0.9308736675041387,,,0.1048,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201W,NP_000240:p.Val201Trp,,,,,saturation,,-0.00172,-0.24728,-0.4113731225342459,Neutral,Neutral,False,0.066,,,-0.29412,,,0.05215,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.202,2.8907,-22.0918,loss_of_function,-3.14574327399289,0.5849637437712276,,,0.7871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V201Y,NP_000240:p.Val201Tyr,,,,,saturation,,-0.1583,0.28707,-0.0272401972031716,Neutral,Neutral,False,0.066,,,-0.14013,,,0.03343,Neutral,Uncertain,Uncertain,99.5,,True,99.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.74,S,-0.137,2.8907,-8.804,loss_of_function,-2.62244519472985,0.6495653992120033,,,0.5585,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202C,NP_000240:p.Ala202Cys,,,,,saturation,,-0.1843,0.25306,0.5968693370135094,Neutral,Neutral,False,0.058,,,0.00219,,,0.20164,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0195,2.5487,-5.2823,loss_of_function,-1.53439685539351,0.7838860220197599,,,0.3469,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202D,NP_000240:p.Ala202Asp,,,,,saturation,,1.577,0.76531,0.8325886207284761,Neutral,Neutral,False,0.058,,,0.35724,,,0.43987,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1196,2.5487,-8.8671,loss_of_function,-2.80923696175688,0.6265057743999881,,,0.8297,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202E,NP_000240:p.Ala202Glu,,,,,saturation,,0.14271,1.33571,0.2798246056782133,Neutral,Neutral,False,0.058,,,0.18124,,,0.6647,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1052,2.5487,-8.8671,loss_of_function,-3.35663685109353,0.5589287271288678,,,0.8024,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202F,NP_000240:p.Ala202Phe,,,,,saturation,,-0.81046,-0.12551,-1.5386512966799395,Neutral,Neutral,False,0.058,,,-0.34955,,,0.58651,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0726,2.5487,-5.8673,loss_of_function,-2.47534119570062,0.6677255305708452,,,0.4041,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202G,NP_000240:p.Ala202Gly,"hg19,3:g.37053518C>G, hg38,3:g.37012027C>G",,,0.468,"cBioPortal,COSMIC,saturation",,0.8884,1.3085,1.368054778651535,Neutral,Neutral,False,0.058,,,0.03744,,,0.22218,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.99,-,-0.016,2.5487,-5.8673,loss_of_function,-2.72646735283333,0.6367237629012591,,,0.143,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202H,NP_000240:p.Ala202His,,,,,saturation,,0.95812,-0.06735,-0.6707764552329376,Neutral,Neutral,False,0.058,,,0.12625,,,0.65291,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0921,2.5487,-8.8671,loss_of_function,-2.83936329355657,0.6227866495192722,,,0.7752,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202I,NP_000240:p.Ala202Ile,,,,,saturation,,0.76251,0.74014,-0.3911263707605544,Neutral,Neutral,False,0.058,,,0.06294,,,0.77713,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1453,2.5487,-22.155,loss_of_function,-2.50901581997366,0.6635683655427447,,,0.3212,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202K,NP_000240:p.Ala202Lys,,,,,saturation,,0.21901,1.77925,0.3205692281369426,Neutral,Neutral,False,0.058,,,-0.33333,,,0.70436,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1777,2.5487,-22.155,loss_of_function,-3.52968178161448,0.53756616261682,,,0.944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202L,NP_000240:p.Ala202Leu,,,,,saturation,,-1.26495,0.6517,-0.7702256030280219,Neutral,Neutral,False,0.058,,,0.10796,,,1.01545,Uncertain,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.15,2.5487,-22.155,loss_of_function,-2.2965853437695,0.6897931138700988,,,0.2337,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202M,NP_000240:p.Ala202Met,,,,,saturation,,-0.72099,0.83265,-0.577327803635056,Neutral,Neutral,False,0.058,,,0.04713,,,0.30778,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0278,2.5487,-6.2823,loss_of_function,-2.47549137796051,0.6677069904251974,,,0.2536,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202N,NP_000240:p.Ala202Asn,,,,,saturation,,0.88185,0.62755,0.2240869814888274,Neutral,Neutral,False,0.058,,,0.06213,,,0.25394,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0672,2.5487,-4.4078,loss_of_function,-1.87977098725176,0.7412492504575839,,,0.4133,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202P,NP_000240:p.Ala202Pro,,,,,saturation,,-0.27397,-0.60544,2.6672923018587085,Neutral,Uncertain,False,0.058,,,-0.00531,,,0.01197,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1268,2.5487,-2.5097,loss_of_function,-0.681483839627933,0.8891789610709356,,,0.1737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202Q,NP_000240:p.Ala202Gln,,,,,saturation,,0.05451,1.43741,-0.1614086545444204,Neutral,Neutral,False,0.058,,,0.15092,,,0.58415,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.0874,2.5487,-8.8671,loss_of_function,-2.47007019387588,0.6683762408585441,,,0.6915,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202R,NP_000240:p.Ala202Arg,,,,,saturation,,1.01541,2.45238,-0.2630128478603155,Uncertain,Neutral,False,0.058,,,-0.03239,,,0.08009,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1884,2.5487,-22.155,loss_of_function,-4.18098005273165,0.45716275934207773,,,0.9141,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202S,NP_000240:p.Ala202Ser,,,,,saturation,,1.10752,0.62143,0.7397603871943575,Neutral,Neutral,False,0.058,,,-0.01619,,,0.01474,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.99,-,0.0251,2.5487,-3.441,gain_of_function,-0.11530254973032,0.9590745904577085,,,0.0935,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202T,NP_000240:p.Ala202Thr,"hg19,3:g.37053517G>A, hg38,3:g.37012026G>A",,,0.440,"cBioPortal,COSMIC,saturation,clinvar",,0.20884,0.06293,0.2179523310789349,Neutral,Neutral,False,0.058,,,-0.02024,,,0.66297,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2689431,Uncertain significance,1,91.99,-,0.0195,2.5487,-3.3754,gain_of_function,-0.139281554028633,0.9561143591194355,,,0.1063,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202V,NP_000240:p.Ala202Val,,,,,"saturation,clinvar",,-0.81222,0.07619,-0.2336221853309789,Neutral,Neutral,False,0.058,,,-0.00055,,,0.78565,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1751318,Uncertain significance,1,91.99,-,0.0176,2.5487,-4.3437,gain_of_function,-0.789026396305338,0.8759027281417459,,,0.1459,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202W,NP_000240:p.Ala202Trp,,,,,saturation,,0.11603,-0.39388,-1.4788500553139132,Neutral,Neutral,False,0.058,,,-0.13665,,,1.00435,Uncertain,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.1667,2.5487,-22.155,loss_of_function,-3.06980337825777,0.5943385975551313,,,0.8414,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A202Y,NP_000240:p.Ala202Tyr,,,,,saturation,,-0.3116,-0.79728,-1.3627153718190004,Neutral,Neutral,False,0.058,,,-0.95571,,,0.82665,Neutral,,,14.4,,True,14.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.99,-,-0.102,2.5487,-7.8672,loss_of_function,-2.45260854118575,0.6705318988194962,,,0.6435,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203A,NP_000240:p.Asp203Ala,,,,,saturation,,0.91195,0.97755,0.2666047900469104,Neutral,Neutral,False,0.059,,,0.0018,,,-0.02699,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.47,S,-0.1071,1.7174,-5.8673,loss_of_function,-2.18413430141464,0.7036753041169946,0.0444372152386282,Benign,0.4354,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203C,NP_000240:p.Asp203Cys,,,,,saturation,,1.14642,1.48129,1.0370206052638435,Neutral,Neutral,False,0.059,,,-0.01171,,,0.05657,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.47,S,-0.2317,1.7174,-22.155,loss_of_function,-3.32696878826584,0.5625912782605075,0.3789295043738304,Uncertain,0.9219,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203E,NP_000240:p.Asp203Glu,,,,,saturation,,0.68849,0.98844,0.1216196812649994,Neutral,Neutral,False,0.059,,,-0.01316,,,0.01601,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.0446,1.7174,-4.4078,loss_of_function,-0.629952067160521,0.8955406083635848,0.0151071896002231,Benign,0.3203,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203F,NP_000240:p.Asp203Phe,,,,,saturation,,0.44831,0.32585,-0.072544327687638,Neutral,Neutral,False,0.059,,,0.00336,,,0.00647,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.2904,1.7174,-22.155,loss_of_function,-4.41704481580809,0.4280203353770417,0.8810064975511082,Pathogenic,0.9369,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203G,NP_000240:p.Asp203Gly,,,,,"saturation,clinvar",,1.94783,2.51463,1.517191218531105,Uncertain,Neutral,False,0.059,,,0.00289,,,0.00249,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,232419,Uncertain significance,1,92.47,S,-0.1115,1.7174,-4.5453,loss_of_function,-2.34945723957271,0.6832660270518369,0.0585467048952128,Benign,0.5464,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203H,NP_000240:p.Asp203His,,,,,"saturation,clinvar",,0.86165,0.29354,0.0507537156206616,Neutral,Neutral,False,0.059,,,0.00263,,,-0.02233,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,405431,Uncertain significance,2,92.47,S,-0.1996,1.7174,-22.155,loss_of_function,-3.47783544362798,0.5439666433279031,0.538501437004265,Uncertain,0.8474,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203I,NP_000240:p.Asp203Ile,,,,,saturation,,0.93264,0.50136,-0.3333697285924342,Neutral,Neutral,False,0.059,,,-0.0028,,,-0.01032,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.2826,1.7174,-22.155,loss_of_function,-3.19689198071229,0.5786493863167126,0.4500638673794596,Uncertain,0.8512,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203K,NP_000240:p.Asp203Lys,,,,,saturation,,0.54322,0.80816,0.4675171349185791,Neutral,Neutral,False,0.059,,,0.01301,,,0.23747,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.261,1.7174,-22.155,loss_of_function,-3.82344403288981,0.5013009277718509,0.6992530929635585,Pathogenic,0.9538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203L,NP_000240:p.Asp203Leu,,,,,saturation,,0.38057,0.55952,-0.4725214094130475,Neutral,Neutral,False,0.059,,,0.00315,,,0.1294,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.2033,1.7174,-7.8672,loss_of_function,-2.42639832604517,0.6737675753003365,0.3822290628668381,Uncertain,0.8494,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203M,NP_000240:p.Asp203Met,,,,,saturation,,0.22638,0.94728,-0.0239144886090919,Neutral,Neutral,False,0.059,,,0.01016,,,0.02987,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.215,1.7174,-22.155,loss_of_function,-3.54600468863065,0.5355510839138072,0.6875891210061995,Pathogenic,0.9139,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203N,NP_000240:p.Asp203Asn,"hg19,3:g.37053520G>A",,,0.367,"cBioPortal,saturation",,0.78107,0.45748,0.317425806300623,Neutral,Neutral,False,0.059,,,-0.00308,,,-0.00578,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.47,S,-0.081,1.7174,-7.2823,loss_of_function,-2.27637383448958,0.6922882442941932,0.484219250404303,Uncertain,0.3047,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203P,NP_000240:p.Asp203Pro,,,,,saturation,,-0.3722,2.52109,4.989027846440466,Uncertain,Uncertain,False,0.059,,,-0.03151,,,-0.06983,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.47,S,-0.2594,1.7174,-8.8671,loss_of_function,-4.97549141438387,0.35907956113595857,0.8389876741897477,Pathogenic,0.9737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203Q,NP_000240:p.Asp203Gln,,,,,saturation,,0.93456,0.83673,0.3351236047458583,Neutral,Neutral,False,0.059,,,0.00906,,,-0.00567,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.1273,1.7174,-4.5453,loss_of_function,-1.41513510129749,0.7986090012369278,0.1026641463060732,Benign,0.8482,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203R,NP_000240:p.Asp203Arg,,,,,saturation,,0.72966,1.2551,0.2195795259691579,Neutral,Neutral,False,0.059,,,0.01118,,,-0.00621,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.292,1.7174,-22.155,loss_of_function,-3.57398244446417,0.5320972028200556,0.7200997879501574,Pathogenic,0.9633,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203S,NP_000240:p.Asp203Ser,,,,,saturation,,1.16902,0.86973,0.8746840803915612,Neutral,Neutral,False,0.059,,,0.00821,,,0.00431,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,92.47,S,-0.1003,1.7174,-3.2823,loss_of_function,-1.59453973091625,0.7764613257028745,0.0109551011038302,Benign,0.3148,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203T,NP_000240:p.Asp203Thr,,,,,saturation,,1.26737,0.74932,0.3878032010429172,Neutral,Neutral,False,0.059,,,-0.00525,,,-0.06703,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.47,S,-0.1394,1.7174,-5.0599,loss_of_function,-1.46891549875099,0.7919697590087663,0.035617893972058,Benign,0.6076,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203V,NP_000240:p.Asp203Val,,,,,"saturation,clinvar",,1.03053,0.46259,-0.1824508107775435,Neutral,Neutral,False,0.059,,,-0.00704,,,-0.01844,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,234489,Uncertain significance,2,92.47,S,-0.1644,1.7174,-7.8672,loss_of_function,-2.77190534753986,0.6311143983836501,0.2817437482985848,Benign,0.6356,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203W,NP_000240:p.Asp203Trp,,,,,saturation,,0.10362,0.15374,-0.5297261250044044,Neutral,Neutral,False,0.059,,,-0.00749,,,0.2076,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.47,S,-0.2708,1.7174,-22.155,loss_of_function,-4.41704481580809,0.4280203353770417,0.9357681909108896,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D203Y,NP_000240:p.Asp203Tyr,,,,,"saturation,clinvar",,0.63957,-0.48129,0.0645263916486688,Neutral,Neutral,False,0.059,,,0.01188,,,0.01399,Neutral,Uncertain,Uncertain,45.0,,True,45.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1375568,Uncertain significance,2,92.47,S,-0.1623,1.7174,-7.8672,loss_of_function,-3.18279074155849,0.5803901979672822,0.2793678857396721,Benign,0.7849,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204A,NP_000240:p.Val204Ala,"hg19,3:g.37053524T>C, hg38,3:g.37012033T>C",,,0.670,"cBioPortal,COSMIC,saturation",,2.47331,2.3449,1.5090217777051511,Uncertain,Uncertain,False,0.088,,,-7e-05,,,0.0204,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.2093,1.5355,-22.1581,loss_of_function,-3.547072539712,0.5354192566620877,0.911336553972326,Pathogenic,0.5509,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204C,NP_000240:p.Val204Cys,,,,,saturation,,1.97059,1.80816,1.91001658136197,Neutral,Neutral,False,0.088,,,5e-05,,,0.0264,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.2372,1.5355,-22.1581,loss_of_function,-3.29478656509372,0.5665642049251941,0.7924466758206341,Pathogenic,0.7633,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204D,NP_000240:p.Val204Asp,,,,,saturation,,4.42425,4.20782,1.978754331373048,Destabilizing,Uncertain,False,0.088,,,0.01957,,,0.07118,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.3759,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.9612461958127352,Pathogenic,0.9818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204E,NP_000240:p.Val204Glu,,,,,saturation,,3.87312,4.22279,1.4508389461759454,Destabilizing,Uncertain,False,0.088,,,0.00682,,,-0.03016,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.03,E,-0.3332,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.9617150887130956,Pathogenic,0.9552,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204F,NP_000240:p.Val204Phe,"hg19,3:g.37053523G>T",,,0.595,"cBioPortal,saturation",,-0.2082,5.26122,0.6081590390422272,Uncertain,Neutral,False,0.088,,,-0.00014,,,0.24977,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.2135,1.5355,-7.8703,loss_of_function,-2.84254027898177,0.6223944475871187,0.346214481433286,Uncertain,0.307,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204G,NP_000240:p.Val204Gly,,,,,saturation,,3.84694,4.77381,2.682160854660085,Destabilizing,Uncertain,False,0.088,,,-7e-05,,,0.08004,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.3351,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.9138548064027244,Pathogenic,0.6946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204H,NP_000240:p.Val204His,,,,,saturation,,1.5515,3.18367,1.189372030893289,Uncertain,Neutral,False,0.088,,,-0.0041,,,0.09637,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.3789,1.5355,-22.1581,loss_of_function,-3.58218800814845,0.5310842180245148,0.8620894694122415,Pathogenic,0.9517,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204I,NP_000240:p.Val204Ile,"hg19,3:g.37053523G>A, hg38,3:g.37012032G>A",,,0.388,"cBioPortal,COSMIC,saturation,clinvar",,-0.0339,1.38231,0.2941297846856139,Neutral,Neutral,False,0.088,,,1e-05,,,0.17919,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,919352,Uncertain significance,1,93.03,E,-0.0429,1.5355,-2.1839,loss_of_function,-0.0751750776936683,0.9640283658009543,0.001553879383085,Benign,0.06,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204K,NP_000240:p.Val204Lys,,,,,saturation,,0.93823,3.47109,1.4824251876828645,Uncertain,Neutral,False,0.088,,,-0.00611,,,0.0498,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.3721,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.8655527706346451,Pathogenic,0.9561,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204L,NP_000240:p.Val204Leu,,,,,saturation,,-0.2664,0.44388,0.2194120894413653,Neutral,Neutral,False,0.088,,,6e-05,,,0.09315,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.1101,1.5355,-2.6036,loss_of_function,-0.642239686615016,0.8940236898239553,0.0036558315003362,Benign,0.1758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204M,NP_000240:p.Val204Met,,,,,saturation,,0.03577,2.1051,0.6893805540559467,Uncertain,Neutral,False,0.088,,,-1e-05,,,0.08321,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.1461,1.5355,-7.8703,loss_of_function,-1.89749379533392,0.7390613526101867,0.3107956562451289,Benign,0.1669,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204N,NP_000240:p.Val204Asn,,,,,saturation,,2.8638,2.70544,1.5865861968232045,Uncertain,Uncertain,False,0.088,,,-0.00014,,,0.16905,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.3637,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.941877794493559,Pathogenic,0.8534,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204P,NP_000240:p.Val204Pro,,,,,saturation,,3.90089,8.00918,6.107631456835348,Destabilizing,Destabilizing,False,0.088,,,0.00117,,,0.96456,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.4136,1.5355,-22.1581,loss_of_function,-4.49084628639977,0.41890947225119085,0.8971938660793553,Pathogenic,0.9774,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204Q,NP_000240:p.Val204Gln,,,,,saturation,,1.68066,2.98946,1.3316461950948055,Uncertain,Neutral,False,0.088,,,-0.00014,,,0.03361,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.03,E,-0.3438,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.8835168923635013,Pathogenic,0.903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204R,NP_000240:p.Val204Arg,,,,,saturation,,0.23444,2.07245,1.0689969200559275,Uncertain,Neutral,False,0.088,,,-0.0064,,,0.00337,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.3931,1.5355,-22.1581,loss_of_function,-4.67735004500973,0.3958854023576074,0.8947119221650276,Pathogenic,0.942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204S,NP_000240:p.Val204Ser,,,,,saturation,,3.29545,3.16429,2.1809171317208778,Destabilizing,Uncertain,False,0.088,,,-0.00014,,,0.0215,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.2349,1.5355,-6.8703,loss_of_function,-3.40041868038081,0.5535238178386084,0.7162475353782484,Pathogenic,0.6996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204T,NP_000240:p.Val204Thr,,,,,saturation,,1.97821,1.40204,1.4266238048990467,Neutral,Neutral,False,0.088,,,1e-05,,,-0.19351,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.03,E,-0.1605,1.5355,-8.8702,loss_of_function,-3.12037499384656,0.5880954825604207,0.7213002225579307,Pathogenic,0.5486,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204W,NP_000240:p.Val204Trp,,,,,saturation,,3.27022,2.6585,0.1871345787489076,Uncertain,Uncertain,False,0.088,,,-0.00014,,,-0.29044,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.327,1.5355,-22.1581,loss_of_function,-3.58218800814845,0.5310842180245148,0.8623013329282937,Pathogenic,0.9477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V204Y,NP_000240:p.Val204Tyr,,,,,saturation,,0.08297,1.85408,0.8034413249199263,Neutral,Neutral,False,0.088,,,-0.00011,,,0.07023,Neutral,,,10.5,,True,10.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.03,E,-0.257,1.5355,-7.8703,loss_of_function,-3.22260231120314,0.5754754210807281,0.6774848551783635,Uncertain,0.8344,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205A,NP_000240:p.Arg205Ala,,,,,saturation,,1.17313,-0.0415,0.7512669114143078,Neutral,Neutral,False,0.06,,,0.56577,,,1.09027,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.1005,2.3901,-4.7035,loss_of_function,-1.90885993410105,0.7376581917551722,0.2506072976299026,Benign,0.8744,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205C,NP_000240:p.Arg205Cys,,,,,saturation,,0.79246,0.3602,1.366458283464637,Neutral,Neutral,False,0.06,,,0.55551,,,0.86774,Neutral,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.1306,2.3901,-8.8733,loss_of_function,-2.26124921677842,0.6941553930202612,0.8186531331321464,Pathogenic,0.3827,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205D,NP_000240:p.Arg205Asp,,,,,saturation,,1.34426,1.77483,1.3876832729263149,Neutral,Neutral,False,0.06,,,1.01026,,,1.05835,Destabilizing,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.2806,2.3901,-22.1612,loss_of_function,-3.37265513879241,0.55695125397603,0.7581837576142734,Pathogenic,0.9772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205E,NP_000240:p.Arg205Glu,,,,,saturation,,0.76679,0.29286,1.0229040526412827,Neutral,Neutral,False,0.06,,,1.08191,,,0.87096,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.2258,2.3901,-22.1612,loss_of_function,-3.09675913889978,0.5910108827590221,0.7831064418736489,Pathogenic,0.9211,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205F,NP_000240:p.Arg205Phe,,,,,saturation,,-0.18332,-0.91395,0.0748631649639042,Neutral,Neutral,False,0.06,,,0.60817,,,1.5702,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.81,E,-0.2217,2.3901,-22.1612,loss_of_function,-2.56649846443237,0.6564720773309173,0.610457524590114,Uncertain,0.8914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205G,NP_000240:p.Arg205Gly,,,,,saturation,,2.39016,0.57653,1.8353906760922185,Uncertain,Uncertain,False,0.06,,,0.78674,,,0.96978,Neutral,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.2249,2.3901,-22.1612,loss_of_function,-4.02006156752975,0.47702830241784205,0.7826123118476092,Pathogenic,0.7652,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205H,NP_000240:p.Arg205His,,,,,saturation,,0.75413,0.0466,0.3790180728052383,Neutral,Neutral,False,0.06,,,0.89158,,,0.8194,Neutral,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.0691,2.3901,-4.4811,loss_of_function,-1.59198052595356,0.7767772620377352,0.0184349644503139,Benign,0.2075,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205I,NP_000240:p.Arg205Ile,,,,,saturation,,1.30364,-0.09966,0.0543516556730822,Neutral,Neutral,False,0.06,,,0.53868,,,1.15865,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.146,2.3901,-7.8734,loss_of_function,-2.98446292232198,0.6048739596135718,0.4693419042037751,Uncertain,0.7671,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205K,NP_000240:p.Arg205Lys,,,,,"saturation,clinvar",,0.41981,0.06361,0.6153023120994985,Neutral,Neutral,False,0.06,,,0.73897,,,1.4392,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1751880,Uncertain significance,2,93.81,E,0.0146,2.3901,-3.664,gain_of_function,-0.570128060240894,0.9029259400421399,0.0115556478263638,Benign,0.1652,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205L,NP_000240:p.Arg205Leu,,,,,saturation,,0.29762,0.02619,-0.1358626877282182,Neutral,Neutral,False,0.06,,,1.00076,,,1.74082,Destabilizing,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.1191,2.3901,-7.8734,loss_of_function,-2.53299289612861,0.6606083722356401,0.7527906478809587,Pathogenic,0.7549,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205M,NP_000240:p.Arg205Met,,,,,"saturation,clinvar",,0.17026,-0.15748,0.183737228807474,Neutral,Neutral,False,0.06,,,0.92197,,,1.32862,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,580970,Uncertain significance,1,93.81,E,-0.09,2.3901,-8.8733,loss_of_function,-2.62495097824086,0.6492560578071668,0.5050861387755687,Uncertain,0.7708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205N,NP_000240:p.Arg205Asn,,,,,saturation,,1.11541,0.72279,0.9227258294885988,Neutral,Neutral,False,0.06,,,0.73267,,,1.2121,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.1107,2.3901,-3.786,loss_of_function,-2.06462060280235,0.7184293861290614,0.0529546956373619,Benign,0.9111,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205P,NP_000240:p.Arg205Pro,,,,,saturation,,1.94849,2.04864,3.462301181939163,Uncertain,Uncertain,False,0.06,,,0.97463,,,1.12778,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.3316,2.3901,-22.1612,loss_of_function,-4.71938040209512,0.39069671400945405,0.7567675681946742,Pathogenic,0.9786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205Q,NP_000240:p.Arg205Gln,,,,,saturation,,0.83733,-0.08878,0.6639610452945405,Neutral,Neutral,False,0.06,,,0.83562,,,1.31621,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.0803,2.3901,-5.7035,loss_of_function,-2.30489956607829,0.6887667150619723,0.0538725701206961,Benign,0.2798,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205S,NP_000240:p.Arg205Ser,"hg19,3:g.37053528G>T, hg38,3:g.37012037G>T",,,0.512,"cBioPortal,COSMIC,saturation",,1.11137,0.3034,1.091776705778264,Neutral,Neutral,False,0.06,,,1.00335,,,1.01476,Destabilizing,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.0894,2.3901,-2.4305,loss_of_function,-1.85054364648116,0.744857394023812,0.198454738619991,Benign,0.8841,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205T,NP_000240:p.Arg205Thr,"hg19,3:g.37053527G>C",,,0.676,"cBioPortal,saturation,clinvar",,1.20454,0.42381,0.7171872429668019,Neutral,Neutral,False,0.06,,,0.36928,,,0.94196,Neutral,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,939062,Uncertain significance,1,93.81,E,-0.1058,2.3901,-4.786,loss_of_function,-1.89670569379355,0.7391586445097387,0.4236528543958374,Uncertain,0.7837,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205V,NP_000240:p.Arg205Val,,,,,saturation,,1.77377,0.0398,0.2008999072499584,Neutral,Neutral,False,0.06,,,0.81664,,,1.29599,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.81,E,-0.128,2.3901,-6.8734,loss_of_function,-2.54996832717176,0.6585127388086024,0.3934857083578983,Uncertain,0.7853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205W,NP_000240:p.Arg205Trp,,,,,saturation,,-0.20243,-0.69524,-0.3746194354118215,Neutral,Neutral,False,0.06,,,0.45376,,,0.26452,Neutral,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.81,E,-0.2073,2.3901,-22.1612,loss_of_function,-3.20024656919666,0.5782352591146445,0.8798304000548226,Pathogenic,0.5079,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R205Y,NP_000240:p.Arg205Tyr,,,,,saturation,,-0.05587,-1.02007,0.1219650002349903,Neutral,Neutral,False,0.06,,,0.85729,,,1.10322,Uncertain,Uncertain,Uncertain,73.7,,False,73.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.81,E,-0.1351,2.3901,-7.2884,loss_of_function,-2.3087478431597,0.6882916415237624,0.4624208162893297,Uncertain,0.7554,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206A,NP_000240:p.Thr206Ala,,,,,saturation,,1.9413,1.27075,0.9348248783140316,Neutral,Neutral,False,0.055,,,6e-05,,,-0.00177,Neutral,,,2.0,,False,2.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,93.9,-,-0.2409,0.8857,-22.1642,loss_of_function,-2.87417761599178,0.618488787647639,0.8808221185319911,Pathogenic,0.4083,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206C,NP_000240:p.Thr206Cys,,,,,saturation,,1.90168,2.12925,0.8811182564381775,Uncertain,Neutral,False,0.055,,,-8e-05,,,0.01069,Neutral,,,2.0,,False,2.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,93.9,-,-0.2767,0.8857,-22.1642,loss_of_function,-2.46463502626065,0.6690472175723063,0.9181175369797672,Pathogenic,0.6283,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206D,NP_000240:p.Thr206Asp,,,,,saturation,,4.91116,4.96429,2.215902267737888,Destabilizing,Uncertain,False,0.055,,,0.05123,,,-0.01079,Neutral,,,2.0,,False,2.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,93.9,-,-0.3565,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.9521756728368492,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206E,NP_000240:p.Thr206Glu,,,,,saturation,,5.20368,6.76088,2.3902088592235207,Destabilizing,Uncertain,False,0.055,,,0.01863,,,0.00987,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3318,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.9540842566442596,Pathogenic,0.9873,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206F,NP_000240:p.Thr206Phe,,,,,saturation,,8.59336,6.64388,0.9012110122004396,Destabilizing,Uncertain,False,0.055,,,7e-05,,,0.07897,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3482,0.8857,-22.1642,loss_of_function,-4.87156834031357,0.3719089654267033,0.938615122335714,Pathogenic,0.9032,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206G,NP_000240:p.Thr206Gly,,,,,saturation,,2.88267,3.3432,2.4088954215405294,Uncertain,Uncertain,False,0.055,,,-8e-05,,,0.04766,Neutral,,,2.0,,False,2.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,93.9,-,-0.3144,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.9747119913214664,Pathogenic,0.7449,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206H,NP_000240:p.Thr206His,,,,,saturation,,11.06834,6.28537,1.4020480100655368,Destabilizing,Uncertain,False,0.055,,,-2e-05,,,0.33361,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3285,0.8857,-22.1642,loss_of_function,-5.29920003953821,0.3191174173901257,0.955121222106287,Pathogenic,0.9189,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206I,NP_000240:p.Thr206Ile,,,,,"saturation,clinvar",,3.26249,1.06973,-0.0718985224581919,Uncertain,Uncertain,False,0.055,,,0.00011,,,0.00301,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,917585,Uncertain significance,2,93.9,-,-0.1747,0.8857,-4.1216,loss_of_function,-2.65318601327005,0.6457704153471702,0.2752455047796188,Benign,0.6063,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206K,NP_000240:p.Thr206Lys,,,,,saturation,,5.50618,6.31633,3.251753670505294,Destabilizing,Destabilizing,False,0.055,,,-0.0241,,,0.05421,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.324,0.8857,-22.1642,loss_of_function,-5.0071150671789,0.3551755905260906,0.9548864809252816,Pathogenic,0.9785,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206L,NP_000240:p.Thr206Leu,,,,,saturation,,0.98112,2.44422,-0.4269111466333669,Uncertain,Neutral,False,0.055,,,-0.10757,,,0.13951,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.2509,0.8857,-8.8764,loss_of_function,-3.21136800237925,0.5768623074013856,0.8550022162048678,Pathogenic,0.4466,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206M,NP_000240:p.Thr206Met,,,,,saturation,,2.32673,5.24864,0.1864982332868758,Uncertain,Uncertain,False,0.055,,,0.00013,,,-0.01227,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.2128,0.8857,-7.8765,loss_of_function,-3.32558345402278,0.5627622991164726,0.9748886369100992,Pathogenic,0.3139,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206N,NP_000240:p.Thr206Asn,,,,,saturation,,3.12063,3.86224,0.6506711021822587,Destabilizing,Uncertain,False,0.055,,,0.0,,,0.03909,Neutral,,,2.0,,False,2.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,93.9,-,-0.2965,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.920343038811857,Pathogenic,0.706,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206P,NP_000240:p.Thr206Pro,,,,,saturation,,2.34952,6.79524,4.697616546888531,Uncertain,Uncertain,False,0.055,,,-0.03969,,,-0.14666,Neutral,,,2.0,,False,2.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,93.9,-,-0.4052,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.9499047309608566,Pathogenic,0.8436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206Q,NP_000240:p.Thr206Gln,,,,,saturation,,3.92425,3.07517,1.1963799627965144,Destabilizing,Uncertain,False,0.055,,,-0.07159,,,-0.02457,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.306,0.8857,-22.1642,loss_of_function,-5.96223452799518,0.23726516670162728,0.9532940056784516,Pathogenic,0.9402,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206R,NP_000240:p.Thr206Arg,,,,,saturation,,7.79085,9.96803,2.07118131446741,Destabilizing,Uncertain,False,0.055,,,-0.26988,,,-0.05951,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3269,0.8857,-22.1642,loss_of_function,-5.37503668141625,0.3097553103950262,0.9530427711559976,Pathogenic,0.9667,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206S,NP_000240:p.Thr206Ser,,,,,saturation,,0.90094,1.50204,1.7019249850754348,Neutral,Neutral,False,0.055,,,-8e-05,,,-0.0067,Neutral,,,2.0,,False,2.0,,neutral,,,DOWN,neutral,neutral,neutral,,,,93.9,-,-0.1192,0.8857,-5.4171,loss_of_function,-2.36757975566271,0.6810287848631882,0.5665565670390885,Uncertain,0.3136,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206V,NP_000240:p.Thr206Val,,,,,saturation,,2.71294,0.79218,-0.1553717683238376,Uncertain,Uncertain,False,0.055,,,-0.0002,,,0.00807,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.161,0.8857,-3.8765,loss_of_function,-2.70487064064388,0.6393898979680671,0.3147124733916631,Benign,0.4003,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206W,NP_000240:p.Thr206Trp,,,,,saturation,,18.33844,13.73537,2.0045085381784853,Destabilizing,Uncertain,False,0.055,,,-0.0358,,,0.00187,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3411,0.8857,-22.1642,loss_of_function,-5.29920003953821,0.3191174173901257,0.9808659094306476,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T206Y,NP_000240:p.Thr206Tyr,,,,,saturation,,10.75073,8.22517,1.8027907545582005,Destabilizing,Uncertain,False,0.055,,,8e-05,,,0.09992,Neutral,,,2.0,,False,2.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.9,-,-0.3496,0.8857,-22.1642,loss_of_function,-5.21924430901906,0.32898802987314474,0.955636250881357,Pathogenic,0.9495,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207A,NP_000240:p.Leu207Ala,,,,,saturation,,0.5859,0.87007,1.0783801469416088,Neutral,Neutral,False,0.054,,,-0.01403,,,-0.00303,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.0871,2.6489,-4.858,loss_of_function,-1.13262627308335,0.8334849900901056,0.0018793828927017,Benign,0.1775,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207C,NP_000240:p.Leu207Cys,,,,,saturation,,0.77537,1.85306,1.5021808687354132,Neutral,Neutral,False,0.054,,,-0.06569,,,0.00376,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.1645,2.6489,-22.1457,loss_of_function,-3.01879784234057,0.6006352804352509,0.1733034747487596,Benign,0.5217,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207D,NP_000240:p.Leu207Asp,,,,,saturation,,1.03848,1.20136,0.8274964896049233,Neutral,Neutral,False,0.054,,,-0.08288,,,-0.05343,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.2968,2.6489,-22.1457,loss_of_function,-2.70425835562132,0.6394654851479679,0.1215820053461629,Benign,0.8596,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207E,NP_000240:p.Leu207Glu,,,,,saturation,,0.47023,0.46463,0.7337818515524865,Neutral,Neutral,False,0.054,,,-0.05544,,,-0.0338,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.189,2.6489,-7.273,loss_of_function,-2.16421172974169,0.7061347649132632,0.0463518709482102,Benign,0.6695,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207F,NP_000240:p.Leu207Phe,,,,,saturation,,0.26657,0.06565,0.4241476612380568,Neutral,Neutral,False,0.054,,,0.05834,,,-0.04088,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,-,-0.0291,2.6489,-6.536,loss_of_function,-0.978001866368902,0.8525735230718597,0.0627514594259148,Benign,0.1093,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207G,NP_000240:p.Leu207Gly,,,,,saturation,,1.01502,1.44898,1.5949535860184785,Neutral,Neutral,False,0.054,,,-0.01466,,,0.02217,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.1772,2.6489,-7.8579,loss_of_function,-2.59745947316357,0.6526499107734391,0.1460613629210404,Benign,0.381,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207H,NP_000240:p.Leu207His,,,,,saturation,,0.9548,0.45238,0.4677706557472771,Neutral,Neutral,False,0.054,,,0.04679,,,0.03869,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.2177,2.6489,-22.1457,loss_of_function,-2.80471236034942,0.6270643408322274,0.1264243148522362,Benign,0.2932,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207I,NP_000240:p.Leu207Ile,,,,,saturation,,0.48548,0.75918,0.348010624254419,Neutral,Neutral,False,0.054,,,-0.0078,,,0.00555,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,-,0.0235,2.6489,-7.8579,gain_of_function,-2.15523623357235,0.7072427986208555,0.034574754756547,Benign,0.0914,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207K,NP_000240:p.Leu207Lys,,,,,saturation,,0.20025,0.61599,0.8603433845034383,Neutral,Neutral,False,0.054,,,-0.03374,,,0.06651,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,-,-0.1842,2.6489,-6.536,loss_of_function,-2.28278359471247,0.6914969531777415,0.0247735727472508,Benign,0.5891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207M,NP_000240:p.Leu207Met,,,,,saturation,,0.22806,0.61224,0.4504605489481256,Neutral,Neutral,False,0.054,,,-0.04997,,,-0.0064,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.08,-,-0.0049,2.6489,-8.8578,loss_of_function,-1.97927840628638,0.7289649630638133,0.0208422523682817,Benign,0.09,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207N,NP_000240:p.Leu207Asn,,,,,saturation,,0.70606,0.83673,0.8882561141301848,Neutral,Neutral,False,0.054,,,-0.02983,,,0.02254,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.1621,2.6489,-6.273,loss_of_function,-1.93761664146501,0.7341081483394692,0.0012481023538273,Benign,0.3043,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207P,NP_000240:p.Leu207Pro,,,,,"saturation,clinvar",,0.25423,0.83912,1.675119879719991,Neutral,Neutral,False,0.054,,,-0.02874,,,0.00699,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1474005,Uncertain significance,1,92.08,-,-0.1557,2.6489,-1.9632,loss_of_function,-1.37757566252706,0.8032457503826791,5.069467619339708e-05,Benign,0.2015,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207Q,NP_000240:p.Leu207Gln,,,,,saturation,,0.33888,0.64422,0.9048720692497886,Neutral,Neutral,False,0.054,,,-0.02878,,,-0.00817,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.0992,2.6489,-3.1575,loss_of_function,-1.20413821624217,0.824656771346493,0.0002661255986166,Benign,0.1784,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207R,NP_000240:p.Leu207Arg,,,,,"saturation,clinvar",,0.34425,1.22279,0.5212017361140192,Neutral,Neutral,False,0.054,,,-0.0635,,,-0.28996,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1752215,Uncertain significance,1,92.08,-,-0.17,2.6489,-5.3985,loss_of_function,-2.24603039616905,0.6960341711854822,0.0033792324423472,Benign,0.4692,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207S,NP_000240:p.Leu207Ser,,,,,saturation,,0.82931,1.13469,1.097024259451517,Neutral,Neutral,False,0.054,,,-0.21426,,,-0.02888,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.1121,2.6489,-3.8136,loss_of_function,-1.13787775513373,0.8328366895374839,0.0003246650377073,Benign,0.174,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207T,NP_000240:p.Leu207Thr,,,,,saturation,,1.36364,0.88197,0.8761721563217303,Neutral,Neutral,False,0.054,,,-0.06636,,,0.04257,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,-0.0882,2.6489,-4.4657,loss_of_function,-1.13170464673973,0.8335987657561266,0.0006806666476847,Benign,0.1845,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207V,NP_000240:p.Leu207Val,,,,,saturation,,1.14161,0.55306,0.6533398942699938,Neutral,Neutral,False,0.054,,,-0.05071,,,0.00392,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.08,-,0.0004,2.6489,-5.273,gain_of_function,-1.77256235922295,0.7544842595712218,0.0066497324337453,Benign,0.0849,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207W,NP_000240:p.Leu207Trp,,,,,saturation,,0.13268,0.85748,-0.0651712822896383,Neutral,Neutral,False,0.054,,,0.01165,,,-0.21707,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,-,-0.2079,2.6489,-22.1457,loss_of_function,-3.62803511814814,0.5254243478271572,0.2496320288034782,Benign,0.3614,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L207Y,NP_000240:p.Leu207Tyr,,,,,saturation,,0.30759,-0.01633,0.3972848484513858,Neutral,Neutral,False,0.054,,,-0.01109,,,0.01972,Neutral,Uncertain,Uncertain,70.9,,False,70.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.08,-,-0.2008,2.6489,-22.1457,loss_of_function,-3.27243052668766,0.569324079549926,0.2128524840747109,Benign,0.3834,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208A,NP_000240:p.Pro208Ala,,,,,saturation,,1.78753,1.0068,-0.7996123745449596,Neutral,Neutral,False,0.022,,,0.0,,,-0.01387,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.04,T,0.0412,2.9286,-2.7649,gain_of_function,-0.098750930440516,0.9611179039127333,0.000913034287217,Benign,0.0596,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208C,NP_000240:p.Pro208Cys,,,,,saturation,,2.25843,1.65986,0.1083457051902642,Uncertain,Uncertain,False,0.022,,,-0.03416,,,-0.00518,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.04,T,-0.0176,2.9286,-7.8734,loss_of_function,-1.12527700993326,0.8343922637541602,0.2003923516196942,Benign,0.223,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208D,NP_000240:p.Pro208Asp,,,,,saturation,,2.55747,1.4551,-0.9343793552923552,Uncertain,Uncertain,False,0.022,,,0.02566,,,0.0002,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.04,T,-0.1164,2.9286,-22.1612,loss_of_function,-2.04958339667612,0.7202857438101877,0.2416751423067718,Benign,0.5464,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208E,NP_000240:p.Pro208Glu,,,,,saturation,,1.22327,0.94864,-1.018368295108372,Neutral,Neutral,False,0.022,,,0.01945,,,0.00244,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.1002,2.9286,-22.1612,loss_of_function,-1.93232827044769,0.7347610028708389,0.2049527822354452,Benign,0.3602,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208F,NP_000240:p.Pro208Phe,,,,,saturation,,1.2239,1.08265,-0.9868468475340924,Neutral,Neutral,False,0.022,,,-0.04623,,,-0.00543,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.1189,2.9286,-22.1612,loss_of_function,-1.87593513239051,0.7417227904606665,0.1494883284002922,Benign,0.2568,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208G,NP_000240:p.Pro208Gly,,,,,saturation,,2.42902,1.86088,-0.1377677209800271,Uncertain,Uncertain,False,0.022,,,-0.01957,,,-0.00145,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.04,T,0.0139,2.9286,-5.2885,gain_of_function,-1.38337948327795,0.8025292630817568,0.0376171466000581,Benign,0.1518,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208H,NP_000240:p.Pro208His,,,,,"saturation,clinvar",,2.56931,1.3119,-1.2653040762450734,Uncertain,Uncertain,False,0.022,,,0.04002,,,0.00204,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2452032,Uncertain significance,2,90.04,T,-0.0075,2.9286,-4.7035,loss_of_function,-1.33006634921998,0.8091108211905333,0.0140374247796217,Benign,0.1474,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208I,NP_000240:p.Pro208Ile,,,,,saturation,,1.42888,0.99966,-0.7764969035240654,Neutral,Neutral,False,0.022,,,-0.05862,,,-0.00248,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.0147,2.9286,-5.0661,loss_of_function,-1.14496438907119,0.8319618377044571,0.0195559194877519,Benign,0.1498,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208K,NP_000240:p.Pro208Lys,,,,,saturation,,1.85679,0.99626,-0.8686286520007142,Neutral,Neutral,False,0.022,,,-0.15154,,,0.02939,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.0122,2.9286,-6.5515,loss_of_function,-1.74509271158432,0.7578754142154914,0.0342547152578902,Benign,0.3433,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208L,NP_000240:p.Pro208Leu,,,,,"saturation,clinvar",,1.3031,0.54116,-1.1359655170863818,Neutral,Neutral,False,0.022,,,-0.04186,,,0.0052,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,960068,Uncertain significance,1,90.04,T,-0.0205,2.9286,-5.2885,loss_of_function,-0.410258313256664,0.9226620153677437,0.0258341747042699,Benign,0.075,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208M,NP_000240:p.Pro208Met,,,,,saturation,,1.22668,0.87585,-0.97510774196223,Neutral,Neutral,False,0.022,,,-0.04395,,,-0.01147,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,0.0205,2.9286,-6.8734,gain_of_function,-1.17100314175575,0.8287473284301168,0.027950514902163,Benign,0.1557,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208N,NP_000240:p.Pro208Asn,,,,,saturation,,1.74888,1.43435,-0.8752281596992145,Neutral,Neutral,False,0.022,,,-0.03821,,,-0.03293,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.04,T,-0.0049,2.9286,-6.5515,loss_of_function,-1.00074455578438,0.8497659160049957,0.0164398145326792,Benign,0.1871,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208Q,NP_000240:p.Pro208Gln,,,,,saturation,,1.31578,1.18435,-0.8723608921537807,Neutral,Neutral,False,0.022,,,-0.01666,,,0.01312,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,0.0029,2.9286,-4.7035,gain_of_function,-0.697468400674728,0.8872056515060098,0.0014085289886597,Benign,0.115,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208R,NP_000240:p.Pro208Arg,,,,,"saturation,clinvar",,1.62958,1.33707,-0.9495396483801766,Neutral,Neutral,False,0.022,,,-0.57666,,,-0.07639,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,231361,Uncertain significance,1,90.04,T,-0.0598,2.9286,-8.8733,loss_of_function,-1.90537738181102,0.7380881162131635,0.2655775755764788,Benign,0.2454,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208S,NP_000240:p.Pro208Ser,"hg38,3:g.37012044C>T",,7.9608960785e-06,0.463,"COSMIC,saturation,clinvar",,2.31489,0.99354,-0.8530288533183095,Uncertain,Uncertain,False,0.022,,,-0.03652,,,0.00794,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,141121,Uncertain significance,2,90.04,T,0.0449,2.9286,-2.0921,gain_of_function,0.0562533137620495,0.9802533282008064,0.0004086997632765,Benign,0.0773,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208T,NP_000240:p.Pro208Thr,,,,,saturation,,2.20331,1.26361,-0.6554545113627297,Uncertain,Uncertain,False,0.022,,,-0.05167,,,-0.01336,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.04,T,0.0198,2.9286,-4.6255,gain_of_function,-0.104197824530279,0.9604454795543164,0.0133094855324339,Benign,0.0718,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208V,NP_000240:p.Pro208Val,,,,,saturation,,1.82291,0.98061,-0.5247913578158908,Neutral,Neutral,False,0.022,,,-0.03105,,,-0.17174,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,0.0335,2.9286,-4.3499,gain_of_function,-1.06232266779775,0.8421640383512816,0.0035255965875403,Benign,0.113,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208W,NP_000240:p.Pro208Trp,,,,,saturation,,1.57584,1.32959,-1.3340169380520288,Neutral,Neutral,False,0.022,,,0.26269,,,0.02653,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.1315,2.9286,-22.1612,loss_of_function,-2.45487009775359,0.670252707467674,0.7414921561128973,Pathogenic,0.4245,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P208Y,NP_000240:p.Pro208Tyr,,,,,saturation,,1.2896,0.89116,-1.007336607574667,Neutral,Neutral,False,0.022,,,-0.04025,,,0.0041,Neutral,Uncertain,Uncertain,59.3,,True,59.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.04,T,-0.0403,2.9286,-6.5515,loss_of_function,-1.36073229200304,0.8053250808105424,0.0435410076846632,Benign,0.3047,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209A,NP_000240:p.Asn209Ala,,,,,saturation,,0.62472,0.83027,0.8076915066906167,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.32,T,-0.0078,2.4787,-4.0155,loss_of_function,-1.27535594635605,0.8158648734886406,0.0144807471655124,Benign,0.0678,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209C,NP_000240:p.Asn209Cys,,,,,saturation,,0.39404,1.08912,1.1210630443205278,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.32,T,-0.0825,2.4787,-8.8733,loss_of_function,-1.7368733793307,0.7588900987542717,0.3880593278702579,Uncertain,0.0876,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209D,NP_000240:p.Asn209Asp,,,,,"saturation,clinvar",,0.35349,0.18061,0.127080451983147,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2091667,Uncertain significance,1,89.32,T,-0.0154,2.4787,-4.8734,loss_of_function,-0.338039019312719,0.9315775572518517,0.0043431629106978,Benign,0.0817,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209E,NP_000240:p.Asn209Glu,,,,,saturation,,0.32702,0.20782,0.3434667580937656,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0511,2.4787,-6.5515,loss_of_function,-1.47328558260524,0.79143026791834,0.0292657671877121,Benign,0.1747,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209F,NP_000240:p.Asn209Phe,,,,,saturation,,-1.02946,0.25578,0.1034401229655235,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.1576,2.4787,-22.1612,loss_of_function,-2.87535033951925,0.6183440137907282,0.688749203043155,Pathogenic,0.2259,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209G,NP_000240:p.Asn209Gly,,,,,saturation,,0.59777,0.98027,0.9159716791909116,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.32,T,-0.0339,2.4787,-3.0921,loss_of_function,-0.38774499607249,0.9254413062101813,0.001414401053387,Benign,0.0694,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209H,NP_000240:p.Asn209His,,,,,saturation,,0.18149,-0.00136,-2.006646563579295e-05,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0376,2.4787,-8.8733,loss_of_function,-2.26613246454706,0.6935525513468771,0.0730322837110191,Benign,0.0685,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209I,NP_000240:p.Asn209Ile,,,,,saturation,,-0.12387,0.36837,0.5580203747543111,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0829,2.4787,-8.8733,loss_of_function,-2.7948678582932,0.6282796541594186,0.5814177842948387,Uncertain,0.117,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209K,NP_000240:p.Asn209Lys,,,,,saturation,,0.03774,0.21463,0.3528820924334547,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.015,2.4787,-4.786,loss_of_function,-1.57293865758905,0.7791279991563675,0.0029279465388774,Benign,0.1349,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209L,NP_000240:p.Asn209Leu,,,,,saturation,,0.08916,0.28027,0.174460975767744,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0842,2.4787,-7.8734,loss_of_function,-2.2487110115342,0.6957032466186799,0.3872228680177781,Uncertain,0.1044,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209M,NP_000240:p.Asn209Met,,,,,saturation,,-0.38562,0.85884,0.349685126301163,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.1113,2.4787,-22.1612,loss_of_function,-2.18682056423084,0.7033436823668826,0.4100357692626432,Uncertain,0.1532,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209P,NP_000240:p.Asn209Pro,,,,,saturation,,2.12315,4.32279,3.303060854864755,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.32,T,-0.266,2.4787,-22.1612,loss_of_function,-3.12299161379868,0.587772458289427,0.4804827694227731,Uncertain,0.3421,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209Q,NP_000240:p.Asn209Gln,,,,,saturation,,0.027,0.38299,0.568544827577549,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0045,2.4787,-4.5515,loss_of_function,-1.47495123663572,0.7912246413127311,0.0223863114276134,Benign,0.1316,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209R,NP_000240:p.Asn209Arg,,,,,saturation,,-0.39859,0.58605,0.334344660970689,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.068,2.4787,-8.8733,loss_of_function,-2.08977971688246,0.7153234690936169,0.0227060352928705,Benign,0.1555,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209S,NP_000240:p.Asn209Ser,"hg19,3:g.37053539A>G",0.0001274128814423,5.97033935409e-05,0.381,"cBioPortal,saturation,clinvar",,0.71079,0.24932,0.578232738145889,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,142980,Conflicting classifications of pathogenicity,1,89.32,T,0.0271,2.4787,-3.0661,gain_of_function,-0.0617071600076566,0.9656909933020561,0.0058485698377592,Benign,0.0506,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209T,NP_000240:p.Asn209Thr,,,,,"saturation,clinvar",,0.52291,0.03027,0.6618615064498631,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,219679,Uncertain significance,2,89.32,T,-0.0271,2.4787,-3.9666,loss_of_function,-0.801347869497369,0.8743816303253821,0.0049514904689489,Benign,0.0642,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209V,NP_000240:p.Asn209Val,,,,,saturation,,0.31339,0.20612,0.6321612975547877,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.0711,2.4787,-7.8734,loss_of_function,-2.31927953384309,0.6869914940940312,0.1753028547054024,Benign,0.0936,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209W,NP_000240:p.Asn209Trp,,,,,saturation,,-0.78203,-0.44218,-0.1167633319695926,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.1627,2.4787,-22.1612,loss_of_function,-2.87535033951925,0.6183440137907282,0.776571590400396,Pathogenic,0.4576,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N209Y,NP_000240:p.Asn209Tyr,,,,,saturation,,-0.92705,0.04762,0.1769824643422751,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,True,113.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.32,T,-0.1411,2.4787,-22.1612,loss_of_function,-2.87535033951925,0.6183440137907282,0.7497047260421345,Pathogenic,0.0943,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210C,NP_000240:p.Ala210Cys,,,,,saturation,,0.43741,1.1119,1.0381344289595675,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1194,1.6632,-8.8764,loss_of_function,-1.76821582468992,0.7550208434751025,0.3682722399331555,Uncertain,0.3817,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210D,NP_000240:p.Ala210Asp,"hg19,3:g.37053542C>A",,,0.596,"cBioPortal,saturation,clinvar",,0.44537,0.73435,1.072514648363167,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1507100,Uncertain significance,2,91.81,-,-0.196,1.6632,-7.8765,loss_of_function,-2.56050142826747,0.6572124172621021,0.0839337124067167,Benign,0.7836,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210E,NP_000240:p.Ala210Glu,,,,,saturation,,1.46362,1.42721,0.788835322573346,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.2545,1.6632,-22.1642,loss_of_function,-3.0831600677317,0.5926897012846931,0.3557968621025819,Uncertain,0.816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210F,NP_000240:p.Ala210Phe,,,,,saturation,,-1.79378,-0.07517,-0.554259296915876,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1614,1.6632,-7.2915,loss_of_function,-3.06107702891353,0.5954158738455131,0.3639585496913642,Uncertain,0.5037,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210G,NP_000240:p.Ala210Gly,,,,,"saturation,clinvar",,0.81968,1.56463,1.7699390716160637,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1752687,Uncertain significance,1,91.81,-,-0.0985,1.6632,-6.0691,loss_of_function,-2.04495950816717,0.7208565673314061,0.0629158439888727,Benign,0.1386,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210H,NP_000240:p.Ala210His,,,,,saturation,,3.93894,8.08095,0.0736907098577871,Destabilizing,Uncertain,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.2414,1.6632,-22.1642,loss_of_function,-2.71304921658115,0.6383802448360705,0.2954395914285415,Benign,0.731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210I,NP_000240:p.Ala210Ile,,,,,saturation,,2.68663,1.47143,-0.0175186853429992,Uncertain,Uncertain,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.2268,1.6632,-22.1642,loss_of_function,-2.91611619305907,0.6133114296317392,0.5159533659427167,Uncertain,0.4958,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210K,NP_000240:p.Ala210Lys,,,,,saturation,,0.30538,1.92449,0.8654489939854251,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.2592,1.6632,-22.1642,loss_of_function,-3.45585089735,0.5466806568891069,0.499172885346085,Uncertain,0.9039,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210L,NP_000240:p.Ala210Leu,,,,,saturation,,0.02427,0.26701,-0.7283563409398081,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1476,1.6632,-5.7066,loss_of_function,-2.29459934709949,0.6900382870852636,0.0519362403712318,Benign,0.2892,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210M,NP_000240:p.Ala210Met,,,,,saturation,,-0.50686,1.02517,-0.3069443880370731,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1123,1.6632,-6.8765,loss_of_function,-2.40595033272676,0.6762918999083525,0.0522214341580463,Benign,0.3541,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210N,NP_000240:p.Ala210Asn,,,,,saturation,,0.04079,0.91803,0.4730206033432382,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1562,1.6632,-5.8765,loss_of_function,-1.26418390968337,0.8172440722518324,0.051297923165916,Benign,0.4416,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210P,NP_000240:p.Ala210Pro,,,,,"saturation,clinvar",,4.4205,5.82857,7.02926890524721,Destabilizing,Destabilizing,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,581788,Uncertain significance,2,91.81,-,-0.2408,1.6632,-8.8764,loss_of_function,-2.43112297283905,0.6731843130711163,0.3341889499977792,Uncertain,0.8665,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210Q,NP_000240:p.Ala210Gln,,,,,saturation,,1.25521,0.51122,0.4616961942039965,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1609,1.6632,-7.2915,loss_of_function,-2.54674837815039,0.6589102446383741,0.1797580092255443,Benign,0.6578,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210R,NP_000240:p.Ala210Arg,,,,,saturation,,0.7356,2.46735,0.0770135627926843,Uncertain,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.2699,1.6632,-22.1642,loss_of_function,-3.28648008748224,0.567589647642926,0.2868388645388072,Benign,0.8295,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210S,NP_000240:p.Ala210Ser,,,,,saturation,,0.54884,0.79456,1.2228457823612848,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.81,-,-0.0472,1.6632,-1.6477,loss_of_function,-0.9128339090401,0.8606185706116162,9.19388891018936e-05,Benign,0.0872,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210T,NP_000240:p.Ala210Thr,"hg19,3:g.37053541G>A, hg38,3:g.37012050G>A",,,0.501,"cBioPortal,COSMIC,saturation,clinvar",,0.73038,2.37245,0.8160459666147304,Uncertain,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1752652,Uncertain significance,1,91.81,-,-0.0747,1.6632,-5.8765,loss_of_function,-1.57851176759772,0.7784399933203426,0.0794824748629197,Benign,0.138,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210V,NP_000240:p.Ala210Val,"hg38,3:g.37012051C>T",,,0.508,"COSMIC,saturation",,1.96336,1.60952,0.2483571556726005,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.0871,1.6632,-8.8764,loss_of_function,-2.87220535403666,0.6187322652989291,0.1091919065710215,Benign,0.2248,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210W,NP_000240:p.Ala210Trp,,,,,saturation,,0.26976,17.97279,-0.913352678688742,Uncertain,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1804,1.6632,-8.8764,loss_of_function,-2.64218224876553,0.6471288407479924,0.3271061940727406,Uncertain,0.898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A210Y,NP_000240:p.Ala210Tyr,,,,,saturation,,-1.41367,-0.03571,-0.2070418899376314,Neutral,Neutral,False,0.009,,,,,,,,,,13.8,,True,13.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,-,-0.1886,1.6632,-8.8764,loss_of_function,-2.68120705958488,0.6423111900015125,0.4789757196977461,Uncertain,0.6731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211A,NP_000240:p.Ser211Ala,,,,,saturation,,0.9179,1.22347,0.1086657848738492,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,-,uncertain,uncertain,neutral,,,,94.19,-,-0.0493,1.6155,-6.0691,loss_of_function,-1.60554078613293,0.7751032347662639,0.4470227026156599,Uncertain,0.0804,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211C,NP_000240:p.Ser211Cys,,,,,saturation,,2.06397,0.98639,0.6079368267339075,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1819,1.6155,-22.1642,loss_of_function,-2.38416470758776,0.6789813564620123,0.7854250100183785,Pathogenic,0.114,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211D,NP_000240:p.Ser211Asp,,,,,saturation,,-2.00997,0.68435,-0.0830873116644825,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1521,1.6155,-6.8765,loss_of_function,-1.98115491838435,0.7287333058252576,0.1605281513468872,Benign,0.2905,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211E,NP_000240:p.Ser211Glu,,,,,saturation,,-0.04573,1.26565,-0.05760293074275,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1223,1.6155,-6.2915,loss_of_function,-2.26327596277147,0.6939051892616437,0.2559931094222347,Benign,0.4495,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211F,NP_000240:p.Ser211Phe,,,,,saturation,,0.97738,1.42857,-0.3025981863834215,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2095,1.6155,-22.1642,loss_of_function,-3.69564108757217,0.5170783253295751,0.9056844300589316,Pathogenic,0.2936,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211G,NP_000240:p.Ser211Gly,,,,,saturation,,0.7019,1.47619,0.566611951217964,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,94.19,-,-0.0647,1.6155,-7.2915,loss_of_function,-2.62003589062063,0.6498628301411118,0.169512272558345,Benign,0.0634,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211H,NP_000240:p.Ser211His,,,,,saturation,,1.04621,0.77687,-0.3055801389901891,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2107,1.6155,-22.1642,loss_of_function,-3.073183940782,0.5939212638326498,0.5674548116533744,Uncertain,0.2758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211I,NP_000240:p.Ser211Ile,,,,,saturation,,2.80555,1.41463,0.0611007267638219,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2126,1.6155,-22.1642,loss_of_function,-2.82877214220771,0.6240941374258278,0.7956324213697573,Pathogenic,0.3086,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211K,NP_000240:p.Ser211Lys,,,,,saturation,,1.62359,1.20544,-0.0050769493631303,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1442,1.6155,-7.2915,loss_of_function,-2.02174187192961,0.7237228070441153,0.3045682309260246,Benign,0.3582,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211L,NP_000240:p.Ser211Leu,,,,,"saturation,clinvar",,1.66724,0.9949,-0.4152716940801054,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,1063590,Uncertain significance,1,94.19,-,-0.1411,1.6155,-8.8764,loss_of_function,-3.12722062527465,0.587250382720928,0.5801438819918238,Uncertain,0.1081,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211M,NP_000240:p.Ser211Met,,,,,saturation,,1.79289,1.22925,-0.1122940186950444,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.18,1.6155,-22.1642,loss_of_function,-3.58342692977536,0.5309312719480214,0.9290674789081708,Pathogenic,0.1468,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211N,NP_000240:p.Ser211Asn,,,,,saturation,,0.30368,0.78707,-0.2869706119180776,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.0643,1.6155,-4.6286,loss_of_function,-1.50923448324385,0.7869923412670504,0.0124092720402811,Benign,0.0964,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211P,NP_000240:p.Ser211Pro,,,,,saturation,,1.00015,1.66327,2.358580066134562,Neutral,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2849,1.6155,-22.1642,loss_of_function,-2.55203989127371,0.6582570022109713,0.2814991822773459,Benign,0.1983,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211Q,NP_000240:p.Ser211Gln,,,,,saturation,,1.78968,0.54864,0.0747634103588562,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1005,1.6155,-7.8765,loss_of_function,-2.07280019922498,0.7174196070171572,0.3065792472567571,Benign,0.3473,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211R,NP_000240:p.Ser211Arg,,,,,saturation,,1.43714,0.22381,-0.2277872349450649,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1575,1.6155,-8.8764,loss_of_function,-2.52579187161958,0.6614973456956765,0.4111809647746937,Uncertain,0.344,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211T,NP_000240:p.Ser211Thr,"hg19,3:g.37053544T>A",,,0.413,"cBioPortal,saturation",,1.02594,-0.08503,-0.0478650574609518,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,neutral,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.0152,1.6155,-1.2183,loss_of_function,-0.0607705150513652,0.9658066230303782,0.0003567032250271,Benign,0.0604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211V,NP_000240:p.Ser211Val,,,,,saturation,,2.60014,1.23776,0.16712970165625,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.1869,1.6155,-22.1642,loss_of_function,-2.99567364584175,0.6034899849215838,0.6754093692998682,Uncertain,0.2161,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211W,NP_000240:p.Ser211Trp,,,,,saturation,,2.28787,0.61463,-0.5693550271157005,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2192,1.6155,-22.1642,loss_of_function,-3.69564108757217,0.5170783253295751,0.9530301623426116,Pathogenic,0.4827,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S211Y,NP_000240:p.Ser211Tyr,,,,,saturation,,-0.23256,1.22891,-0.1314907880935723,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,67.0,,True,67.0,,uncertain,,,UP,neutral,neutral,neutral,,,,94.19,-,-0.2143,1.6155,-22.1642,loss_of_function,-3.16677174917415,0.5823677581142235,0.8145573137231282,Pathogenic,0.2437,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212A,NP_000240:p.Thr212Ala,,,,,"saturation,clinvar",,0.18397,0.43776,0.8302525553190939,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,DOWN,neutral,neutral,neutral,405388,Uncertain significance,2,94.46,H,0.0038,2.5921,-4.9727,gain_of_function,-0.14523503437535,0.9553793961962509,0.0055184735925199,Benign,0.0612,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212C,NP_000240:p.Thr212Cys,,,,,saturation,,-0.10737,0.77925,1.1047895071095817,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,DOWN,neutral,neutral,neutral,,,,94.46,H,-0.0438,2.5921,-7.2946,loss_of_function,-1.85258425120615,0.7446054793912946,0.0076912632787275,Benign,0.2168,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212D,NP_000240:p.Thr212Asp,,,,,saturation,,0.03318,1.1466,1.6080564105699338,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,-,uncertain,uncertain,neutral,,,,94.46,H,-0.1317,2.5921,-8.8794,loss_of_function,-3.12747551470077,0.587218916374052,0.1025139329735151,Benign,0.4091,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212E,NP_000240:p.Thr212Glu,,,,,saturation,,-0.94296,1.24796,0.9240591644706316,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0989,2.5921,-7.2946,loss_of_function,-2.01055444521591,0.725103905722798,0.0177051171105127,Benign,0.3121,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212F,NP_000240:p.Thr212Phe,,,,,saturation,,-0.15341,0.45884,-0.0260508458022223,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.1234,2.5921,-8.8794,loss_of_function,-2.45204373287915,0.6706016249527632,0.0631424977195127,Benign,0.1959,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212G,NP_000240:p.Thr212Gly,,,,,saturation,,1.37467,2.39422,2.061195731198066,Uncertain,Uncertain,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,DOWN,neutral,neutral,neutral,,,,94.46,H,-0.1574,2.5921,-22.1673,loss_of_function,-4.12071862041468,0.4646020916102011,0.1184443603758033,Benign,0.203,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212H,NP_000240:p.Thr212His,,,,,saturation,,0.17782,0.75578,0.536257173603081,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0824,2.5921,-4.7097,loss_of_function,-1.70013931476546,0.7634249546538479,0.0002717639699503,Benign,0.1832,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212I,NP_000240:p.Thr212Ile,,,,,"saturation,clinvar",,-1.04353,-0.77143,-0.6716633417577811,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,2009186,Uncertain significance,1,94.46,H,-0.0163,2.5921,-3.8352,loss_of_function,-0.195643314060968,0.9491564451772092,0.0008596091308443,Benign,0.0737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212K,NP_000240:p.Thr212Lys,,,,,saturation,,-0.11088,0.62075,0.573749835136523,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0768,2.5921,-4.4873,loss_of_function,-1.33744958639363,0.8081993534003183,0.0020310566961428,Benign,0.1393,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212L,NP_000240:p.Thr212Leu,,,,,saturation,,-0.42275,0.83503,-0.5449068912636323,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0859,2.5921,-7.2946,loss_of_function,-1.06451802744101,0.8418930190740043,0.0112654457139936,Benign,0.0764,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212M,NP_000240:p.Thr212Met,,,,,saturation,,-0.36536,0.56973,0.0677027165167798,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0558,2.5921,-7.8795,loss_of_function,-0.678610841788976,0.8895336354407246,0.0831336575985735,Benign,0.0806,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212N,NP_000240:p.Thr212Asn,,,,,"saturation,clinvar",,0.35801,2.08776,0.9948701872287354,Uncertain,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,-,uncertain,uncertain,neutral,2682006,Uncertain significance,1,94.46,H,-0.0666,2.5921,-7.8795,loss_of_function,-1.78049090536883,0.7535054728594803,0.0375317279133986,Benign,0.1227,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212P,NP_000240:p.Thr212Pro,,,,,saturation,,-1.38086,0.78605,2.8990282271068244,Neutral,Uncertain,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,-,uncertain,uncertain,neutral,,,,94.46,H,-0.1702,2.5921,-6.8796,loss_of_function,-2.7355955693985,0.6355968757126756,0.0032487016997827,Benign,0.0795,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212Q,NP_000240:p.Thr212Gln,,,,,saturation,,-0.02599,0.66565,0.7170136982996597,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0623,2.5921,-5.1791,loss_of_function,-1.82988101237883,0.7474082162447867,0.001396399438146,Benign,0.1795,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212R,NP_000240:p.Thr212Arg,,,,,saturation,,-0.34084,1.02653,0.1849841642407995,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.0812,2.5921,-4.7921,loss_of_function,-0.205907053042732,0.9478893766449346,0.0019201521001524,Benign,0.1089,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212S,NP_000240:p.Thr212Ser,,,,,saturation,,0.71426,0.86429,1.3036301246434614,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,neutral,neutral,potentially_damaging,DOWN,neutral,neutral,neutral,,,,94.46,H,0.0371,2.5921,-5.5576,gain_of_function,-1.62699952334978,0.7724541328436476,0.0230234229560714,Benign,0.1029,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212V,NP_000240:p.Thr212Val,,,,,saturation,,-0.97313,-0.63741,-0.4323113789156679,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,0.0048,2.5921,-2.1381,gain_of_function,-0.191091865192375,0.9497183259545651,0.0002021520604106,Benign,0.0632,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212W,NP_000240:p.Thr212Trp,,,,,saturation,,0.22948,0.86939,-0.2096136067906601,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,damaging,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.1841,2.5921,-22.1673,loss_of_function,-3.17027741316472,0.5819349804943842,0.2992764363228872,Benign,0.5293,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T212Y,NP_000240:p.Thr212Tyr,,,,,saturation,,-0.0943,1.42891,0.1059702262283163,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,25.6,P,True,25.6,-0.936,uncertain,neutral,potentially_damaging,UP,neutral,neutral,neutral,,,,94.46,H,-0.1167,2.5921,-7.2946,loss_of_function,-2.24493604483396,0.6961692699192292,0.0089767124516729,Benign,0.2524,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213A,NP_000240:p.Val213Ala,,,,,saturation,,0.46994,1.26531,1.66229242953611,Neutral,Neutral,False,0.039,,,0.00532,,,-0.0068,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.0212,2.6677,-5.7096,loss_of_function,-1.94152433375388,0.7336257399362708,0.0488177236557842,Benign,0.0882,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213C,NP_000240:p.Val213Cys,,,,,saturation,,0.71731,1.76088,1.8819601383514872,Neutral,Neutral,False,0.039,,,0.00532,,,0.00219,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.133,2.6677,-22.1673,loss_of_function,-2.47885254131562,0.6672920515489593,0.3748821812494095,Uncertain,0.5817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213D,NP_000240:p.Val213Asp,,,,,saturation,,0.36825,1.82449,2.6420512561489007,Neutral,Uncertain,False,0.039,,,0.04717,,,0.01051,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.2717,2.6677,-22.1673,loss_of_function,-2.56106325836266,0.6571430587919224,0.33813206905123,Uncertain,0.4004,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213E,NP_000240:p.Val213Glu,,,,,saturation,,-0.64304,1.02891,1.8218861245863085,Neutral,Neutral,False,0.039,,,0.04692,,,0.25537,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.94,H,-0.1469,2.6677,-6.0722,loss_of_function,-1.71148744044135,0.7620240175324181,0.0099718724604,Benign,0.2603,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213F,NP_000240:p.Val213Phe,,,,,saturation,,0.78863,0.7602,0.6115212504057657,Neutral,Neutral,False,0.039,,,0.12059,,,-0.56115,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.1145,2.6677,-8.8794,loss_of_function,-2.25272452739018,0.6952077741934815,0.3254628067655835,Uncertain,0.1692,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213G,NP_000240:p.Val213Gly,,,,,saturation,,1.44496,2.5449,3.2175313764197515,Uncertain,Uncertain,False,0.039,,,0.00522,,,-0.00965,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.1631,2.6677,-8.8794,loss_of_function,-3.02970005327915,0.5992893919206425,0.5129488066576517,Uncertain,0.1468,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213H,NP_000240:p.Val213His,,,,,saturation,,0.34014,1.78299,1.389007531124679,Neutral,Neutral,False,0.039,,,0.02249,,,0.1994,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.2069,2.6677,-8.8794,loss_of_function,-1.79775765550282,0.7513738758081232,0.2286624525612867,Benign,0.4293,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213I,NP_000240:p.Val213Ile,,,,,saturation,,-0.38378,0.1568,0.2721415512993275,Neutral,Neutral,False,0.039,,,0.0083,,,-0.04288,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,0.0558,2.6677,-3.2649,gain_of_function,-0.413609376875765,0.9222483233137118,0.0010279631424242,Benign,0.0653,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213K,NP_000240:p.Val213Lys,,,,,saturation,,-0.41103,1.39558,1.3265277108357338,Neutral,Neutral,False,0.039,,,-0.0115,,,0.02483,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.1798,2.6677,-4.8796,loss_of_function,-1.75569063994754,0.75656708967994,0.030477428356272,Benign,0.2408,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213L,NP_000240:p.Val213Leu,,,,,"saturation,clinvar",,-0.78974,0.17925,0.5635169706148013,Neutral,Neutral,False,0.039,,,0.00581,,,-0.02416,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,"826370, 90300","Uncertain significance, Uncertain significance","2, 2",94.94,H,-0.0058,2.6677,-2.5758,loss_of_function,-0.378863964874195,0.9265376781254747,0.0022174762130348,Benign,0.1073,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213M,NP_000240:p.Val213Met,"hg38,3:g.37012059G>A",0.0071965354731881,0.0021579010232114,0.407,"COSMIC,saturation,clinvar",,-0.77714,0.68333,1.0509498267064905,Neutral,Neutral,False,0.039,,,0.00662,,,0.01119,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,41640,Benign,3,94.94,H,-0.0288,2.6677,-5.2946,loss_of_function,-1.11602801268519,0.8355340614351949,0.0668201696229034,Benign,0.0908,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213N,NP_000240:p.Val213Asn,,,,,saturation,,0.14135,1.3466,1.828652613558638,Neutral,Neutral,False,0.039,,,0.00532,,,0.18687,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.1816,2.6677,-6.8796,loss_of_function,-2.36665248810523,0.6811432569425317,0.2191263945728961,Benign,0.1992,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213P,NP_000240:p.Val213Pro,,,,,saturation,,-0.2322,4.19286,4.444069139988334,Uncertain,Uncertain,False,0.039,,,0.00581,,,-0.00114,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.2213,2.6677,-4.8796,loss_of_function,-2.22380059181554,0.6987784620939904,0.3385526288965792,Uncertain,0.3225,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213Q,NP_000240:p.Val213Gln,,,,,saturation,,0.00318,1.03741,1.5898403971609,Neutral,Neutral,False,0.039,,,0.00519,,,-0.1185,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.94,H,-0.1514,2.6677,-4.8796,loss_of_function,-1.32760202251742,0.809415044712157,0.0355710934277767,Benign,0.2281,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213R,NP_000240:p.Val213Arg,,,,,saturation,,-0.74467,1.33299,0.9478494883609924,Neutral,Neutral,False,0.039,,,-0.06853,,,-0.01448,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.2035,2.6677,-5.4201,loss_of_function,-1.87612086976826,0.7416998610012334,0.0495612047447839,Benign,0.2401,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213S,NP_000240:p.Val213Ser,,,,,saturation,,0.34252,2.08878,2.2225118733508307,Uncertain,Uncertain,False,0.039,,,0.00532,,,-0.02806,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.1248,2.6677,-5.7096,loss_of_function,-1.90199003513871,0.7385062874453056,0.0222631126920323,Benign,0.1377,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213T,NP_000240:p.Val213Thr,,,,,saturation,,0.17182,1.26361,1.432741208999511,Neutral,Neutral,False,0.039,,,0.00532,,,0.00564,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.94,H,-0.034,2.6677,-4.4873,loss_of_function,-0.910888139700351,0.8608587777238432,0.0070311306107347,Benign,0.0899,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213W,NP_000240:p.Val213Trp,,,,,saturation,,0.0642,0.66939,0.4498309759063001,Neutral,Neutral,False,0.039,,,0.01477,,,-0.44761,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.2229,2.6677,-22.1673,loss_of_function,-3.29441936365141,0.5666095362994022,0.8549564900955796,Pathogenic,0.7071,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V213Y,NP_000240:p.Val213Tyr,,,,,saturation,,1.32547,0.63503,0.8923391347368778,Neutral,Neutral,False,0.039,,,0.08946,,,0.01021,Neutral,Uncertain,Uncertain,32.5,,False,32.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.94,H,-0.2258,2.6677,-22.1673,loss_of_function,-2.95988264592658,0.6079084185754142,0.5737666439064028,Uncertain,0.4853,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214A,NP_000240:p.Asp214Ala,,,,,saturation,,1.3018,0.98605,-0.181483282907911,Neutral,Neutral,False,0.026,,,-0.09112,,,0.51902,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.5,H,-0.1255,1.5093,-5.7096,loss_of_function,-2.7089946119818,0.6388807897064905,0.0918099855765216,Benign,0.5009,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214C,NP_000240:p.Asp214Cys,,,,,saturation,,1.96366,1.98503,0.4818205817962318,Neutral,Neutral,False,0.026,,,-0.09105,,,0.35334,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,H,-0.2509,1.5093,-22.1673,loss_of_function,-3.10179730429638,0.5903889163542092,0.9099839269437362,Pathogenic,0.9058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214E,NP_000240:p.Asp214Glu,,,,,"saturation,clinvar",,0.32093,0.11463,-0.372853106629098,Neutral,Neutral,False,0.026,,,-0.04893,,,0.13002,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2566503,Uncertain significance,1,94.5,H,-0.0592,1.5093,-3.522,loss_of_function,-1.51456929001584,0.7863337541967278,0.0116733498098748,Benign,0.3004,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214F,NP_000240:p.Asp214Phe,,,,,saturation,,0.82262,0.43537,-0.6235078101770636,Neutral,Neutral,False,0.026,,,-0.1402,,,-0.6814,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.3096,1.5093,-22.1673,loss_of_function,-4.41405584560783,0.4283893266473171,0.9003543954265083,Pathogenic,0.9045,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214G,NP_000240:p.Asp214Gly,,,,,saturation,,2.08948,2.4517,0.6134278763024594,Uncertain,Uncertain,False,0.026,,,-0.09238,,,0.50721,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.5,H,-0.1447,1.5093,-7.2946,loss_of_function,-3.49087167679151,0.5423573076997998,0.3175590401802037,Benign,0.553,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214H,NP_000240:p.Asp214His,,,,,saturation,,1.40295,1.31088,-0.5084587294553755,Neutral,Neutral,False,0.026,,,-0.09107,,,-0.00784,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.2188,1.5093,-22.1673,loss_of_function,-3.37060280612617,0.5572046164342698,0.4643357327547284,Uncertain,0.7941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214I,NP_000240:p.Asp214Ile,,,,,saturation,,0.83193,0.76565,-0.7373390107459477,Neutral,Neutral,False,0.026,,,-0.09088,,,0.31779,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.3018,1.5093,-22.1673,loss_of_function,-3.65122774879318,0.522561195079098,0.5795422807086432,Uncertain,0.8213,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214K,NP_000240:p.Asp214Lys,,,,,saturation,,1.11873,1.55646,-0.527914778015664,Neutral,Neutral,False,0.026,,,-0.25284,,,0.15272,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.2124,1.5093,-8.8794,loss_of_function,-4.04782833627905,0.47360046788427734,0.4638080095813628,Uncertain,0.9313,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214L,NP_000240:p.Asp214Leu,,,,,saturation,,0.59588,0.97449,-0.7417662388322671,Neutral,Neutral,False,0.026,,,-0.11041,,,0.21553,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.2225,1.5093,-7.8795,loss_of_function,-3.77688727033568,0.5070484052653582,0.4711965839837403,Uncertain,0.8029,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214M,NP_000240:p.Asp214Met,,,,,saturation,,0.5286,1.15884,-0.3353536739050078,Neutral,Neutral,False,0.026,,,-0.11186,,,-0.03578,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.1613,1.5093,-7.8795,loss_of_function,-3.7465283488629,0.5107962435668099,0.6973774576578329,Pathogenic,0.8978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214N,NP_000240:p.Asp214Asn,,,,,saturation,,1.77673,1.59864,-0.0814044395035845,Neutral,Neutral,False,0.026,,,-0.09355,,,-0.11857,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,H,-0.0875,1.5093,-4.7921,loss_of_function,-1.4855132397945,0.7899207517785122,0.0361189859099225,Benign,0.285,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214P,NP_000240:p.Asp214Pro,,,,,saturation,,1.07906,6.27993,6.1542640985995405,Uncertain,Uncertain,False,0.026,,,-0.0869,,,0.1476,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,H,-0.2786,1.5093,-8.8794,loss_of_function,-5.30308800892258,0.3186374437986173,0.8636649969505534,Pathogenic,0.9861,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214Q,NP_000240:p.Asp214Gln,,,,,saturation,,0.85718,0.55272,-0.1178845743631357,Neutral,Neutral,False,0.026,,,-0.08779,,,0.30155,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.1438,1.5093,-4.0216,loss_of_function,-1.81116763385474,0.7497184009740113,0.0671157204360801,Benign,0.7605,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214R,NP_000240:p.Asp214Arg,,,,,saturation,,1.29414,1.85136,-0.652807869356043,Neutral,Neutral,False,0.026,,,-0.23954,,,-0.17219,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.3112,1.5093,-22.1673,loss_of_function,-3.74009080557855,0.5115909645291461,0.4860416805139799,Uncertain,0.9269,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214S,NP_000240:p.Asp214Ser,,,,,saturation,,1.91666,1.53537,0.086828829781439,Neutral,Neutral,False,0.026,,,-0.09112,,,0.32324,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.5,H,-0.1292,1.5093,-5.1791,loss_of_function,-2.34183848066052,0.6842065702291112,0.2428918936074153,Benign,0.3469,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214T,NP_000240:p.Asp214Thr,,,,,saturation,,1.86385,0.83061,-0.2850324482578037,Neutral,Neutral,False,0.026,,,-0.09111,,,0.13382,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.5,H,-0.1679,1.5093,-6.8796,loss_of_function,-2.14064205231318,0.7090444644524458,0.1708812706220154,Benign,0.6102,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214V,NP_000240:p.Asp214Val,,,,,saturation,,1.30171,0.86769,-0.5750034282542327,Neutral,Neutral,False,0.026,,,-0.09112,,,0.22315,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.2565,1.5093,-22.1673,loss_of_function,-4.46653815211268,0.42191033500580716,0.826368482074362,Pathogenic,0.5994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214W,NP_000240:p.Asp214Trp,,,,,saturation,,0.27165,-0.07687,-0.9999158660779912,Neutral,Neutral,False,0.026,,,-0.09875,,,0.53246,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.29,1.5093,-22.1673,loss_of_function,-4.41405584560783,0.4283893266473171,0.9371613924454804,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D214Y,NP_000240:p.Asp214Tyr,,,,,saturation,,0.90095,0.43469,-0.5822935784852495,Neutral,Neutral,False,0.026,,,-0.11993,,,0.16321,Neutral,Uncertain,Uncertain,48.2,,False,48.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.5,H,-0.2544,1.5093,-22.1673,loss_of_function,-4.41405584560783,0.4283893266473171,0.857658770625648,Pathogenic,0.6543,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215A,NP_000240:p.Asn215Ala,,,,,saturation,,-0.80358,-0.28707,0.4021176556896327,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.07,H,-0.0768,1.7215,-3.8765,loss_of_function,-1.82484477776022,0.7480299442931843,0.347021148248443,Uncertain,0.3244,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215C,NP_000240:p.Asn215Cys,,,,,saturation,,-0.27702,-0.15476,0.9605537726721356,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.07,H,-0.22,1.7215,-22.1642,loss_of_function,-2.34603071251076,0.6836890351410817,0.8958459923668076,Pathogenic,0.1644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215D,NP_000240:p.Asn215Asp,,,,,"saturation,clinvar",,2.31998,2.42789,1.772320860678421,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1359772,Uncertain significance,1,95.07,H,-0.1733,1.7215,-22.1642,loss_of_function,-3.24762519327724,0.5723863220185593,0.96784130777578,Pathogenic,0.7374,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215E,NP_000240:p.Asn215Glu,,,,,saturation,,3.05621,8.25034,1.5506461769821878,Destabilizing,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.2004,1.7215,-22.1642,loss_of_function,-3.24762519327724,0.5723863220185593,0.9698054580218548,Pathogenic,0.9318,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215F,NP_000240:p.Asn215Phe,,,,,saturation,,2.62145,5.0102,-0.6740955766934914,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.2273,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9818772690121712,Pathogenic,0.9255,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215G,NP_000240:p.Asn215Gly,,,,,saturation,,0.7606,2.01769,2.062658362303845,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.07,H,-0.2009,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9673721742908912,Pathogenic,0.5049,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215H,NP_000240:p.Asn215His,,,,,saturation,,3.91582,2.79048,0.1985508054041951,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1751,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9360708779300492,Pathogenic,0.3867,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215I,NP_000240:p.Asn215Ile,,,,,saturation,,-2.63686,-0.42925,-0.4574125584570371,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1475,1.7215,-7.8765,loss_of_function,-2.50557093162214,0.663993640350996,0.7478621254587616,Pathogenic,0.2212,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215K,NP_000240:p.Asn215Lys,,,,,saturation,,-1.13117,4.75646,1.0634728188267497,Uncertain,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.0953,1.7215,-6.8765,loss_of_function,-2.26769916399892,0.6933591407799765,0.7052446398227841,Pathogenic,0.8331,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215L,NP_000240:p.Asn215Leu,,,,,saturation,,-0.53182,2.28095,-1.0180409997375477,Uncertain,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1488,1.7215,-6.8765,loss_of_function,-2.45531147119637,0.6701982194880671,0.8039863161826153,Pathogenic,0.3654,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215M,NP_000240:p.Asn215Met,,,,,saturation,,-1.30658,0.67483,-0.2085879417504432,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1132,1.7215,-8.8764,loss_of_function,-3.05439466725586,0.5962408178734894,0.9558452248135312,Pathogenic,0.5707,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215P,NP_000240:p.Asn215Pro,,,,,saturation,,2.29678,9.19796,7.781701707844954,Uncertain,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.07,H,-0.3357,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9446906323729428,Pathogenic,0.9782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215Q,NP_000240:p.Asn215Gln,,,,,saturation,,1.6579,1.94354,0.6578837060366807,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.0963,1.7215,-8.8764,loss_of_function,-3.24762519327724,0.5723863220185593,0.9515114893101178,Pathogenic,0.791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215R,NP_000240:p.Asn215Arg,,,,,saturation,,0.3593,4.22007,0.2585458121100303,Uncertain,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1054,1.7215,-2.5546,loss_of_function,-2.11339205943308,0.7124085025037281,0.2941090326379343,Benign,0.7355,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215S,NP_000240:p.Asn215Ser,,,,,"saturation,clinvar",,-0.19655,1.05646,1.4086013538469355,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90301,Conflicting classifications of pathogenicity,1,95.07,H,-0.0569,1.7215,-5.8765,loss_of_function,-2.12489167421778,0.7109888639048839,0.5083235333313336,Uncertain,0.1018,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215T,NP_000240:p.Asn215Thr,,,,,"saturation,clinvar",,-1.11429,1.45068,0.8263950756208926,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1413847,Uncertain significance,2,95.07,H,-0.1005,1.7215,-4.7066,loss_of_function,-2.12681889952632,0.7107509460712959,0.304822617315293,Benign,0.1705,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215V,NP_000240:p.Asn215Val,,,,,saturation,,-1.97557,-0.20986,-0.2174392676858932,Neutral,Neutral,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.1265,1.7215,-5.0692,loss_of_function,-2.32622254405584,0.6861343727491229,0.2002878426006191,Benign,0.1584,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215W,NP_000240:p.Asn215Trp,,,,,saturation,,13.74328,11.62449,-0.6892967204471601,Destabilizing,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.2324,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9848140231509754,Pathogenic,0.982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N215Y,NP_000240:p.Asn215Tyr,,,,,saturation,,6.24974,6.05068,-0.23898199804537,Destabilizing,Uncertain,False,0.041,,,,,,,,,,1.1,,False,1.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.07,H,-0.2108,1.7215,-22.1642,loss_of_function,-5.19248151522646,0.33229192272453245,0.9855741908404833,Pathogenic,0.6363,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216A,NP_000240:p.Ile216Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.13449,3.84116,4.303927208746556,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.3804,0.4947,-22.1673,loss_of_function,-4.52590040908879,0.4145820068056384,0.8043795207420115,Pathogenic,0.9634,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216C,NP_000240:p.Ile216Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.98904,3.60238,4.102509142016136,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.2875,0.4947,-7.8795,loss_of_function,-4.91953678355538,0.3659872145830888,0.8402351259606923,Pathogenic,0.9692,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216D,NP_000240:p.Ile216Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.23211,5.51803,5.546440100204629,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.5045,0.4947,-22.1673,loss_of_function,-6.07717359691788,0.22307582716175203,0.9682563062500862,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216E,NP_000240:p.Ile216Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.45474,5.13605,5.075976782205718,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.4854,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.9851519095430894,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216F,NP_000240:p.Ile216Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.62443,4.14082,3.3896817502664414,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.9,H,-0.3414,0.4947,-22.1673,loss_of_function,-6.13587221205143,0.21582942619072495,0.8482609331817867,Pathogenic,0.8914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216G,NP_000240:p.Ile216Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.28425,6.34626,6.386687876661861,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.4711,0.4947,-22.1673,loss_of_function,-6.5603217277148,0.16343072180124035,0.9851049361588328,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216H,NP_000240:p.Ile216His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.25888,5.89422,4.243900270865312,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.471,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.9765188864293242,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216K,NP_000240:p.Ile216Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.71062,7.72279,7.215462800450081,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.9,H,-0.4779,0.4947,-22.1673,loss_of_function,-6.5603217277148,0.16343072180124035,0.9881012049094628,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216L,NP_000240:p.Ile216Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.07601,2.32143,1.7652444455888816,Uncertain,Neutral,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1753693,Uncertain significance,1,94.9,H,-0.1859,0.4947,-6.5576,loss_of_function,-2.53065234489893,0.6608973155550846,0.533529147391862,Uncertain,0.2887,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216M,NP_000240:p.Ile216Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21153,2.97041,2.721731000951674,Uncertain,Uncertain,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.9,H,-0.2713,0.4947,-22.1673,loss_of_function,-3.15299995826492,0.5840678990594633,0.8126810612304325,Pathogenic,0.4437,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216N,NP_000240:p.Ile216Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.66815,4.40986,4.060241986608386,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,973396,Uncertain significance,1,94.9,H,-0.4175,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.9835845901313196,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216P,NP_000240:p.Ile216Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.9642,11.97517,9.702011322195997,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.5245,0.4947,-22.1673,loss_of_function,-6.5603217277148,0.16343072180124035,0.9823088389736584,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216Q,NP_000240:p.Ile216Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.8027,4.02959,4.047345112677814,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.4451,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.985784465649538,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216R,NP_000240:p.Ile216Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.22976,7.97449,5.92348850798077,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.9,H,-0.5047,0.4947,-22.1673,loss_of_function,-6.5603217277148,0.16343072180124035,0.9820802172775596,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216S,NP_000240:p.Ile216Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.69042,5.13163,5.230880936662772,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.9,H,-0.421,0.4947,-22.1673,loss_of_function,-5.77198967782961,0.2607510779762995,0.9545065282376596,Pathogenic,0.986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216T,NP_000240:p.Ile216Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.77604,3.13571,3.65413576165771,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2695732,Uncertain significance,1,94.9,H,-0.27,0.4947,-8.8794,loss_of_function,-4.60243890139764,0.4051332556941187,0.886437865474291,Pathogenic,0.9482,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216V,NP_000240:p.Ile216Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.48578,1.22891,1.3750108752931585,Neutral,Neutral,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,826420,Uncertain significance,2,94.9,H,-0.1326,0.4947,-3.9254,loss_of_function,-0.93593646414382,0.8577665377764988,0.0474215248474745,Benign,0.141,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216W,NP_000240:p.Ile216Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",18.81074,10.61224,5.155624452110081,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.9,H,-0.4303,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.981961708889671,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I216Y,NP_000240:p.Ile216Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",15.90688,5.38912,4.696776956663333,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.9,H,-0.4391,0.4947,-22.1673,loss_of_function,-6.33244266063391,0.19156261365617916,0.972432769499461,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217A,NP_000240:p.Arg217Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.93326,0.07925,1.2943138746537748,Neutral,Neutral,False,0.078,,,0.23952,,,1.14592,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.2344,0.9741,-5.4201,loss_of_function,-2.93604205294687,0.610851562902158,0.136591435891454,Benign,0.863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217C,NP_000240:p.Arg217Cys,"hg19,3:g.37053562C>T, hg38,3:g.37012071C>T",9.55414012739e-05,0.0003702966354768,0.843,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.38535,1.55544,1.7481766300443249,Neutral,Neutral,False,0.078,,,0.25419,,,1.17942,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90303,Conflicting classifications of pathogenicity,1,94.56,H,-0.3287,0.9741,-22.1673,loss_of_function,-3.46663994760161,0.5453487381710613,0.4378196826620578,Uncertain,0.3817,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217D,NP_000240:p.Arg217Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.9145,1.74116,2.5581479737617965,Neutral,Uncertain,False,0.078,,,0.35705,,,1.17925,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.4109,0.9741,-22.1673,loss_of_function,-4.68610674195594,0.39480437962632764,0.8107634642815396,Pathogenic,0.9882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217E,NP_000240:p.Arg217Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.22833,1.56361,2.032436794179208,Neutral,Uncertain,False,0.078,,,0.42258,,,1.35519,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.3562,0.9741,-22.1673,loss_of_function,-4.34078967232683,0.4374341068009706,0.6003891249685034,Uncertain,0.9418,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217F,NP_000240:p.Arg217Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.69028,1.01054,0.4634935043788729,Neutral,Neutral,False,0.078,,,0.21919,,,1.19681,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.56,H,-0.352,0.9741,-22.1673,loss_of_function,-4.79534544004276,0.38131875639502893,0.7370883557182246,Pathogenic,0.9506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217G,NP_000240:p.Arg217Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.00582,1.1619,2.556453010479297,Uncertain,Uncertain,False,0.078,,,0.24177,,,1.16573,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.2654,0.9741,-4.5577,loss_of_function,-2.53026747808495,0.6609448277365594,0.0364750889073888,Benign,0.6401,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217H,NP_000240:p.Arg217His,"hg19,3:g.37053563G>A, hg38,3:g.37012072G>A",3.1849162367e-05,1.99128613189e-05,0.772,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.80411,0.92585,1.0550528149958556,Neutral,Neutral,False,0.078,,,0.15323,,,0.47072,Neutral,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,220367,Conflicting classifications of pathogenicity,1,94.56,H,-0.2218,0.9741,-8.8794,loss_of_function,-4.79534544004276,0.38131875639502893,0.7949132244043835,Pathogenic,0.33,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217I,NP_000240:p.Arg217Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.68846,1.87245,0.7512183388101695,Uncertain,Uncertain,False,0.078,,,0.21882,,,1.00369,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.3493,0.9741,-22.1673,loss_of_function,-5.26222341775319,0.3236822172137441,0.7609362159308981,Pathogenic,0.9002,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217K,NP_000240:p.Arg217Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0856,0.56599,1.092773702387995,Neutral,Neutral,False,0.078,,,0.2774,,,-0.09015,Neutral,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.56,H,-0.1189,0.9741,-4.2946,loss_of_function,-2.12985880606879,0.7103756666601707,0.020810761205372,Benign,0.2758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217L,NP_000240:p.Arg217Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27522,0.91939,0.3742837036776314,Neutral,Neutral,False,0.078,,,0.23833,,,1.28722,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.3223,0.9741,-22.1673,loss_of_function,-5.0304345112545,0.3522967825370304,0.619883528109231,Uncertain,0.8396,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217M,NP_000240:p.Arg217Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.53757,0.8068,0.858667406465467,Neutral,Neutral,False,0.078,,,0.23089,,,1.47406,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.2882,0.9741,-22.1673,loss_of_function,-4.91329489174846,0.36675778218077065,0.8347582198158072,Pathogenic,0.8999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217N,NP_000240:p.Arg217Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38851,1.29252,1.5706471690459418,Neutral,Neutral,False,0.078,,,0.22794,,,1.21302,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.2619,0.9741,-7.8795,loss_of_function,-3.92924175612077,0.4882400962239684,0.7718066662792125,Pathogenic,0.9572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217P,NP_000240:p.Arg217Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.8592,11.17959,7.807578678539358,Destabilizing,Destabilizing,False,0.078,,,0.23207,,,1.05152,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,629885,Conflicting classifications of pathogenicity,1,94.56,H,-0.4619,0.9741,-22.1673,loss_of_function,-5.9181388985796,0.2427088149220854,0.9213662342374892,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217Q,NP_000240:p.Arg217Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.50977,0.89252,1.4234256900244515,Neutral,Neutral,False,0.078,,,0.22063,,,0.93613,Neutral,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.2115,0.9741,-5.8796,loss_of_function,-3.09315548969684,0.591455756748366,0.0483439307391915,Benign,0.2888,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217S,NP_000240:p.Arg217Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.01522,1.3051,1.8834294584568485,Neutral,Neutral,False,0.078,,,0.22097,,,1.5167,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525659,Uncertain significance,2,94.56,H,-0.2394,0.9741,-6.2946,loss_of_function,-2.85381707720731,0.6210023159086164,0.0836381889072196,Benign,0.8862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217T,NP_000240:p.Arg217Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.59819,0.92687,1.5409567945345943,Uncertain,Uncertain,False,0.078,,,0.21484,,,1.00592,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.3248,0.9741,-22.1673,loss_of_function,-3.45463918922573,0.5468302434323045,0.643728564024533,Uncertain,0.8828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217V,NP_000240:p.Arg217Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.42627,1.6432,0.8576798375234324,Uncertain,Uncertain,False,0.078,,,0.24447,,,1.11553,Uncertain,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.56,H,-0.3364,0.9741,-22.1673,loss_of_function,-4.77914799900157,0.3833183462017387,0.7533382609378284,Pathogenic,0.91,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217W,NP_000240:p.Arg217Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11195,1.28503,0.1402883222193374,Neutral,Neutral,False,0.078,,,0.23573,,,0.94767,Neutral,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.56,H,-0.3376,0.9741,-22.1673,loss_of_function,-4.79534544004276,0.38131875639502893,0.9476138066946516,Pathogenic,0.7286,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R217Y,NP_000240:p.Arg217Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79532,0.66156,0.6502816300166538,Neutral,Neutral,False,0.078,,,-0.03108,,,0.68681,Neutral,Uncertain,Uncertain,48.3,,False,48.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.56,H,-0.3413,0.9741,-22.1673,loss_of_function,-4.57179015255293,0.40891687346574357,0.7429122018355963,Pathogenic,0.8634,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218A,NP_000240:p.Ser218Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2513,-0.4381,-0.1556410907063543,Neutral,Neutral,False,0.094,,,0.0,,,0.10331,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,92.57,H,0.1005,3.1156,-3.7534,gain_of_function,-0.222792895649148,0.9458048029973051,0.0001027947460812,Benign,0.066,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218C,NP_000240:p.Ser218Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01441,0.09558,0.699917255194763,Neutral,Neutral,False,0.094,,,0.0,,,0.03388,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,1405112,Uncertain significance,2,92.57,H,0.032,3.1156,-7.2976,gain_of_function,-0.265677228617768,0.9405106904980811,0.0028903157460044,Benign,0.0627,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218D,NP_000240:p.Ser218Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.84705,0.35306,0.7085128188090101,Neutral,Neutral,False,0.094,,,0.0414,,,0.3059,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,-0.0921,3.1156,-22.1704,loss_of_function,-2.12550557559245,0.7109130771847474,0.0320581682721819,Benign,0.714,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218E,NP_000240:p.Ser218Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2039,-0.4051,0.3960279346384587,Neutral,Neutral,False,0.094,,,0.05201,,,0.03634,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,-0.0653,3.1156,-22.1704,loss_of_function,-1.72862573263954,0.759908278737829,0.0417462568233484,Benign,0.8069,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218F,NP_000240:p.Ser218Phe,"hg19,3:g.37053566C>T, hg38,3:g.37012075C>T",,,0.578,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.93267,-1.38503,-0.9194728020894116,Neutral,Neutral,False,0.094,,,-0.02845,,,0.15225,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,852910,Uncertain significance,1,92.57,H,-0.0715,3.1156,-22.1704,loss_of_function,-2.68609530877393,0.6417077308979279,0.3828578339955494,Uncertain,0.1599,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218G,NP_000240:p.Ser218Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85179,0.86429,1.047075022040212,Neutral,Neutral,False,0.094,,,0.0,,,-0.25875,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.57,H,0.0872,3.1156,-4.5607,gain_of_function,-0.850764026368907,0.8682811578300154,0.0190862615121031,Benign,0.0563,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218H,NP_000240:p.Ser218His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00106,-0.51327,-0.4628129942450776,Neutral,Neutral,False,0.094,,,-0.08442,,,-0.27217,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0104,3.1156,-5.8826,gain_of_function,-1.79982477939544,0.7511186873586404,0.009825350795894,Benign,0.4635,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218I,NP_000240:p.Ser218Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07922,-1.23299,-0.7813597400340305,Neutral,Neutral,False,0.094,,,0.00021,,,0.0036,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.021,3.1156,-3.4232,gain_of_function,-0.894534968833796,0.8628775925285395,8.004352281902355e-05,Benign,0.1089,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218K,NP_000240:p.Ser218Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.503,-0.30748,-0.074022620888608,Neutral,Neutral,False,0.094,,,-0.16175,,,-0.05308,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,-0.0821,3.1156,-22.1704,loss_of_function,-2.47013862899176,0.6683677924771123,0.0660561911333673,Benign,0.8992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218L,NP_000240:p.Ser218Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.88858,-1.45068,-1.2521511347784609,Neutral,Neutral,False,0.094,,,-0.04769,,,-0.15879,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0269,3.1156,-3.0,gain_of_function,-0.856407707043582,0.8675844399768243,0.0003427025799694,Benign,0.0729,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218M,NP_000240:p.Ser218Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.40134,-1.94184,-0.7157273868261216,Neutral,Neutral,False,0.094,,,-0.02525,,,0.01202,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0361,3.1156,-6.8826,gain_of_function,-1.59473588108982,0.7764371107736979,0.0105409929060354,Benign,0.1208,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218N,NP_000240:p.Ser218Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.19065,-0.37653,0.02445503465753,Neutral,Neutral,False,0.094,,,0.0,,,0.11774,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0652,3.1156,-6.2977,gain_of_function,-1.5298242553497,0.7844505139302111,0.0009588131772625,Benign,0.1159,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218P,NP_000240:p.Ser218Pro,"hg19,3:g.37012074T>C",,,,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.36352,5.87551,5.553243757516909,Destabilizing,Destabilizing,False,0.094,,,-0.00319,,,-0.05711,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,405413,Conflicting classifications of pathogenicity,1,92.57,H,-0.0791,3.1156,-8.8825,loss_of_function,-3.4720715884757,0.5446781968369137,0.3767149900898569,Uncertain,0.8374,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218Q,NP_000240:p.Ser218Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22264,-0.41871,0.0935033982473293,Neutral,Neutral,False,0.094,,,0.18703,,,0.01805,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0636,3.1156,-2.7741,gain_of_function,-1.20334130220197,0.8247551511576963,0.0003335515288006,Benign,0.6179,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218R,NP_000240:p.Ser218Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.29862,-0.83878,-0.7537443110023828,Neutral,Neutral,False,0.094,,,-0.22663,,,0.04188,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,-0.0052,3.1156,-6.0753,loss_of_function,-2.28061035352451,0.6917652419102589,0.0242862608165523,Benign,0.8502,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218T,NP_000240:p.Ser218Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.74113,-0.45578,0.0129731415680939,Neutral,Neutral,False,0.094,,,0.00021,,,0.00724,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,neutral,,,UP,neutral,neutral,neutral,2428711,Uncertain significance,1,92.57,H,0.1123,3.1156,-3.2679,gain_of_function,-0.309704180143116,0.9350755206297839,1.5849558448025914e-05,Benign,0.07,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218V,NP_000240:p.Ser218Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.72315,-0.64286,-0.6207229931255775,Neutral,Neutral,False,0.094,,,0.0002,,,0.06371,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0432,3.1156,-4.1278,gain_of_function,-0.602938007492519,0.898875520230998,0.0016088556694568,Benign,0.1044,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218W,NP_000240:p.Ser218Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.91271,-2.00884,-1.3288876760547208,Uncertain,Neutral,False,0.094,,,-0.07425,,,0.08948,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,-0.0812,3.1156,-22.1704,loss_of_function,-2.68609530877393,0.6417077308979279,0.432145542363846,Uncertain,0.4447,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S218Y,NP_000240:p.Ser218Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.78405,-1.36327,-0.819640293509214,Neutral,Neutral,False,0.094,,,0.03649,,,-0.02271,Neutral,Uncertain,Uncertain,56.3,,False,56.3,,uncertain,,,UP,neutral,neutral,neutral,,,,92.57,H,0.0017,3.1156,-6.8826,gain_of_function,-1.58573149777804,0.7775487106270424,0.0036041571603949,Benign,0.2083,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219A,NP_000240:p.Ile219Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.61498,2.85578,2.673748617792809,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.2018,1.6989,-8.8825,loss_of_function,-2.61029355548832,0.6510655308624527,0.1862335554442281,Benign,0.5132,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219C,NP_000240:p.Ile219Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.85367,2.43333,2.728824763513023,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.1767,1.6989,-7.8826,loss_of_function,-3.26975976963931,0.5696537870979578,0.7525733743968601,Pathogenic,0.667,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219D,NP_000240:p.Ile219Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.47435,2.61463,3.481791164260569,Uncertain,Destabilizing,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.3937,1.6989,-22.1704,loss_of_function,-4.53772199464813,0.4131226206023799,0.9220492459972291,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219E,NP_000240:p.Ile219Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07668,3.98333,2.996768533731083,Destabilizing,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.3746,1.6989,-22.1704,loss_of_function,-4.53772199464813,0.4131226206023799,0.9284081446449032,Pathogenic,0.9651,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219F,NP_000240:p.Ile219Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.38734,1.93469,1.2419769818488915,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.4,H,-0.1577,1.6989,-7.8826,loss_of_function,-3.31155486774225,0.5644941416993696,0.4581696758250343,Uncertain,0.3405,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219G,NP_000240:p.Ile219Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.43869,4.77177,4.238857858646663,Destabilizing,Destabilizing,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.3603,1.6989,-22.1704,loss_of_function,-3.69090131145265,0.5176634552887197,0.7779804816660927,Pathogenic,0.8271,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219H,NP_000240:p.Ile219His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.23234,3.69728,2.149499173044994,Destabilizing,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.2781,1.6989,-6.0753,loss_of_function,-2.90145817892414,0.6151209756937549,0.4560295210796478,Uncertain,0.8484,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219K,NP_000240:p.Ile219Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60974,4.61735,2.99934256076184,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.4,H,-0.3671,1.6989,-22.1704,loss_of_function,-4.70130472926027,0.3929281733528204,0.9159174720843376,Pathogenic,0.9436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219L,NP_000240:p.Ile219Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.12017,1.43435,0.8720515530707718,Neutral,Neutral,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,90305,Benign,3,93.4,H,-0.0537,1.6989,-2.3591,loss_of_function,-0.620260200924154,0.8967370786507711,0.0069738725991681,Benign,0.1228,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219M,NP_000240:p.Ile219Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.16168,3.34218,1.5282657559644182,Uncertain,Neutral,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,489902,Uncertain significance,1,93.4,H,-0.0876,1.6989,-7.8826,loss_of_function,-1.75408095302795,0.7567658070914263,0.3481969383725087,Uncertain,0.1821,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219N,NP_000240:p.Ile219Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.1826,1.93605,2.544128931012788,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.3067,1.6989,-22.1704,loss_of_function,-4.53772199464813,0.4131226206023799,0.8648936312383493,Pathogenic,0.6598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219P,NP_000240:p.Ile219Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.15138,9.23231,6.983281080100596,Destabilizing,Destabilizing,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.4137,1.6989,-22.1704,loss_of_function,-4.25878761593049,0.44755734019829524,0.8911270879040845,Pathogenic,0.9729,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219Q,NP_000240:p.Ile219Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.64614,3.16531,2.584765950989684,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.3343,1.6989,-22.1704,loss_of_function,-4.53772199464813,0.4131226206023799,0.7680442519408329,Pathogenic,0.8844,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219R,NP_000240:p.Ile219Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.66655,3.36395,2.153376344543162,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.4,H,-0.3939,1.6989,-22.1704,loss_of_function,-4.70130472926027,0.3929281733528204,0.8972925207473745,Pathogenic,0.9015,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219S,NP_000240:p.Ile219Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.28164,3.59218,3.2540513374468008,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.4,H,-0.2424,1.6989,-8.8825,loss_of_function,-3.67312144616153,0.5198583969039038,0.7813586924411353,Pathogenic,0.5742,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219T,NP_000240:p.Ile219Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.08049,2.17551,2.368947173874456,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483584,Uncertain significance,2,93.4,H,-0.149,1.6989,-6.8826,loss_of_function,-2.86469676938099,0.6196592073573763,0.1657911765186649,Benign,0.378,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219V,NP_000240:p.Ile219Val,"hg19,3:g.37053568A>G, hg38,3:g.37012077A>G",0.2301313943104988,0.2327653506675589,0.292,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.70168,0.47347,0.8379512971643849,Neutral,Neutral,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"920597, 36557","Likely benign, Benign","2, 3",93.4,H,-0.0131,1.6989,-2.2102,loss_of_function,-0.129169357991383,0.9573627195282258,0.0031099446170997,Benign,0.0592,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219W,NP_000240:p.Ile219Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.84937,2.08776,1.6835462952222164,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.4,H,-0.3195,1.6989,-22.1704,loss_of_function,-3.92348722888325,0.48895049819285463,0.9106975171162468,Pathogenic,0.9675,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I219Y,NP_000240:p.Ile219Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.95867,2.06531,1.724377156544315,Uncertain,Uncertain,False,0.092,,,,,,,,,,10.1,,False,10.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.4,H,-0.3284,1.6989,-22.1704,loss_of_function,-3.92348722888325,0.48895049819285463,0.9211684287764952,Pathogenic,0.8234,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220A,NP_000240:p.Phe220Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.48101,4.14388,3.759039642688837,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.311,1.4993,-22.1734,loss_of_function,-4.41297937761261,0.4285222176654118,0.6558287497259317,Uncertain,0.9253,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220C,NP_000240:p.Phe220Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.12723,3.97075,3.969711942376602,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.2791,1.4993,-22.1734,loss_of_function,-4.61439141551485,0.4036577062334013,0.5057008645062488,Uncertain,0.5418,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220D,NP_000240:p.Phe220Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.46438,4.26837,4.565634312066942,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.434,1.4993,-22.1734,loss_of_function,-4.39880494791793,0.4302720647592417,0.8638191620147976,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220E,NP_000240:p.Phe220Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.8276,4.23265,4.181162003750694,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.4033,1.4993,-22.1734,loss_of_function,-4.39880494791793,0.4302720647592417,0.7916460567303446,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220G,NP_000240:p.Phe220Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.07241,6.09762,5.243593889884197,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.3464,1.4993,-22.1734,loss_of_function,-5.07028669486523,0.3473769918169716,0.8075690159774279,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220H,NP_000240:p.Phe220His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.30138,2.2017,2.1938108133967016,Uncertain,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.2409,1.4993,-3.0277,loss_of_function,-1.46369234550945,0.79261456234246,0.0034918824988148,Benign,0.6206,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220I,NP_000240:p.Phe220Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.39968,3.96429,2.608488291690124,Destabilizing,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.2549,1.4993,-22.1734,loss_of_function,-2.97560012036566,0.6059680811112625,0.6516083868536257,Uncertain,0.8273,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220K,NP_000240:p.Phe220Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.06637,3.44558,4.158031618700543,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.4102,1.4993,-22.1734,loss_of_function,-5.07028669486523,0.3473769918169716,0.906837888809348,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220L,NP_000240:p.Phe220Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.22683,2.21122,2.210287801352738,Uncertain,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.1492,1.4993,-8.8856,loss_of_function,-2.94298243112857,0.6099947664840358,0.437399080563484,Uncertain,0.9691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220M,NP_000240:p.Phe220Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.21549,2.13673,2.485571692900208,Uncertain,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.2481,1.4993,-22.1734,loss_of_function,-3.44094558808504,0.5485207317747806,0.4852886850296942,Uncertain,0.8924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220N,NP_000240:p.Phe220Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.52184,3.66667,3.581446686846382,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.3636,1.4993,-22.1734,loss_of_function,-4.39880494791793,0.4302720647592417,0.8461828722753265,Pathogenic,0.9443,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220P,NP_000240:p.Phe220Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.35132,9.8534,8.422488718885072,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.4344,1.4993,-22.1734,loss_of_function,-5.07028669486523,0.3473769918169716,0.9208400563919756,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220Q,NP_000240:p.Phe220Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.19135,3.5449,3.545033031679674,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.2898,1.4993,-7.3007,loss_of_function,-3.61449313317542,0.5270961190066421,0.7488475265371138,Pathogenic,0.9653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220R,NP_000240:p.Phe220Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.80138,3.30034,3.5202009804757126,Uncertain,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.4116,1.4993,-22.1734,loss_of_function,-5.07028669486523,0.3473769918169716,0.936844013280145,Pathogenic,0.9741,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220S,NP_000240:p.Phe220Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.15763,4.72619,4.401149797101354,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,973384,Uncertain significance,0,92.95,H,-0.29,1.4993,-22.1734,loss_of_function,-4.23837575180888,0.45007720462192397,0.5786391301918345,Uncertain,0.8096,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220T,NP_000240:p.Phe220Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.23646,3.73605,3.9564767901673656,Destabilizing,Destabilizing,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.3363,1.4993,-22.1734,loss_of_function,-4.61439141551485,0.4036577062334013,0.8371290099587002,Pathogenic,0.9308,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220V,NP_000240:p.Phe220Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.79954,3.25272,2.8615018071242817,Destabilizing,Uncertain,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.95,H,-0.1815,1.4993,-8.8856,loss_of_function,-2.83909899946461,0.6228192768812679,0.4008386870399449,Uncertain,0.7601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220W,NP_000240:p.Phe220Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63143,-0.33844,0.7292123737874753,Neutral,Neutral,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.95,H,-0.2345,1.4993,-22.1734,loss_of_function,-2.7407472485078,0.6349608959299309,0.5552312390217456,Uncertain,0.5017,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F220Y,NP_000240:p.Phe220Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11909,0.44932,0.575020887946952,Neutral,Neutral,False,0.058,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,False,21.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.95,H,-0.0962,1.4993,-1.2784,loss_of_function,-0.525503091080459,0.908434935767516,3.659767537336357e-05,Benign,0.1604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221A,NP_000240:p.Gly221Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.89882,3.95544,1.81786124142026,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3446,0.4211,-22.1704,loss_of_function,-5.29516890266404,0.3196150651471106,0.9667452357151748,Pathogenic,0.6868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221C,NP_000240:p.Gly221Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.95456,2.36531,1.983384960757899,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3314,0.4211,-7.8826,loss_of_function,-4.87751292134922,0.37117510113210156,0.9686627497027236,Pathogenic,0.7559,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221D,NP_000240:p.Gly221Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.52532,2.75884,1.2922757625307584,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4048,0.4211,-22.1704,loss_of_function,-5.03194081199503,0.3521108282496251,0.9250195778204308,Pathogenic,0.969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221E,NP_000240:p.Gly221Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.80281,4.10204,1.6544719463441178,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,2857844,Uncertain significance,1,91.38,-,-0.4042,0.4211,-22.1704,loss_of_function,-5.29901207113777,0.31914062227147383,0.9430096867925168,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221F,NP_000240:p.Gly221Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.73536,4.66327,1.435151717049894,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4424,0.4211,-22.1704,loss_of_function,-6.60450853264544,0.1579758178750153,0.9845707240744253,Pathogenic,0.9895,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221H,NP_000240:p.Gly221His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.70165,4.33129,1.1159377952289908,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4171,0.4211,-22.1704,loss_of_function,-6.22924521471469,0.20430243844787388,0.980262130772446,Pathogenic,0.9494,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221I,NP_000240:p.Gly221Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.00585,4.69592,2.3421117431517784,Destabilizing,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4881,0.4211,-22.1704,loss_of_function,-6.84292343687084,0.12854326670569816,0.9915107376339982,Pathogenic,0.9796,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221K,NP_000240:p.Gly221Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.25916,4.33095,1.3375975004808964,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3693,0.4211,-8.8825,loss_of_function,-5.46544911228369,0.2985938081118783,0.9467555158108972,Pathogenic,0.9863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221L,NP_000240:p.Gly221Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07118,4.11259,1.3875495806748568,Destabilizing,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4563,0.4211,-22.1704,loss_of_function,-6.84292343687084,0.12854326670569816,0.9912281200890156,Pathogenic,0.9586,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221M,NP_000240:p.Gly221Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.83672,4.29252,1.4496645624880191,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3945,0.4211,-22.1704,loss_of_function,-6.84292343687084,0.12854326670569816,0.9834745042800276,Pathogenic,0.9764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221N,NP_000240:p.Gly221Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.44284,3.44626,1.1116238376868952,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3255,0.4211,-6.5607,loss_of_function,-3.78645180593528,0.505867654068781,0.7962609899192854,Pathogenic,0.7892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221P,NP_000240:p.Gly221Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.17397,18.35918,5.416797130047389,Destabilizing,Destabilizing,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4344,0.4211,-8.8825,loss_of_function,-4.79470311344483,0.38139805223654694,0.8965291803792577,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221Q,NP_000240:p.Gly221Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.6493,4.31156,1.7197848217172054,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4081,0.4211,-22.1704,loss_of_function,-5.29901207113777,0.31914062227147383,0.9714892053604532,Pathogenic,0.927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221R,NP_000240:p.Gly221Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.6457,4.21667,1.3811389772440004,Uncertain,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3533,0.4211,-8.8825,loss_of_function,-6.46504475406056,0.17519275660962189,0.9734286183774288,Pathogenic,0.9654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221S,NP_000240:p.Gly221Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.39882,2.10136,1.514715902662479,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.2657,0.4211,-5.5607,loss_of_function,-3.80298076070509,0.5038271385707321,0.6238999412075213,Uncertain,0.2598,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221T,NP_000240:p.Gly221Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.01051,4.07891,2.083298946501436,Destabilizing,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.3477,0.4211,-6.5607,loss_of_function,-3.68335991135039,0.5185944484458767,0.8852299325391981,Pathogenic,0.757,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221V,NP_000240:p.Gly221Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.54739,4.68435,2.2698144046543094,Destabilizing,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4313,0.4211,-22.1704,loss_of_function,-6.84292343687084,0.12854326670569816,0.98392940591849,Pathogenic,0.9488,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221W,NP_000240:p.Gly221Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.01462,3.88401,1.1719163485403374,Destabilizing,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4422,0.4211,-22.1704,loss_of_function,-6.60450853264544,0.1579758178750153,0.9912518113614316,Pathogenic,0.9732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G221Y,NP_000240:p.Gly221Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.91242,4.47721,1.4272006668509836,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,84.4,,False,84.4,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.38,-,-0.4428,0.4211,-22.1704,loss_of_function,-6.60450853264544,0.1579758178750153,0.992033495430802,Pathogenic,0.9798,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222A,NP_000240:p.Asn222Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4311,-0.31531,0.2423673055704767,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.03,H,0.0144,2.6971,-3.5942,gain_of_function,-0.700620161945894,0.8868165635201373,0.0001149206216075,Benign,0.1237,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222C,NP_000240:p.Asn222Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09549,0.5881,0.9609441264735988,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.03,H,-0.0624,2.6971,-8.8794,loss_of_function,-0.506641116879922,0.9107634647771236,0.6451698765569946,Uncertain,0.1494,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222D,NP_000240:p.Asn222Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21353,-0.02279,-0.0654869018761483,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.03,H,-0.0014,2.6971,-6.0722,loss_of_function,-1.77818732375958,0.7537898522434255,0.0859357064829408,Benign,0.4683,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222E,NP_000240:p.Asn222Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.86377,-0.49456,-0.3155683745718912,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0259,2.6971,-5.5576,loss_of_function,-1.61724353960895,0.7736585184989485,0.0749093402277596,Benign,0.7383,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222F,NP_000240:p.Asn222Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34536,-0.46429,-0.2328043360321102,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.1375,2.6971,-22.1673,loss_of_function,-2.95713223226298,0.6082479598098589,0.3049966903103744,Benign,0.3728,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222G,NP_000240:p.Asn222Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30605,0.53265,1.101813250335167,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.03,H,-0.0239,2.6971,-5.0722,loss_of_function,-2.10797079241383,0.713077763175434,0.0038424929736092,Benign,0.1384,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222H,NP_000240:p.Asn222His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.08315,0.05612,-0.2716534201470927,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,0.0024,2.6971,-4.9727,gain_of_function,-0.857426893813276,0.867458620381579,0.0391369339496638,Benign,0.1539,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222I,NP_000240:p.Asn222Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57965,-0.19694,-0.2495325322643582,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.1306,2.6971,-22.1673,loss_of_function,-2.14998456365863,0.7078911223653885,0.2536073815322743,Benign,0.1083,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222K,NP_000240:p.Asn222Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57586,-0.26871,0.0685020890742288,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,922107,Uncertain significance,2,92.03,H,-0.0158,2.6971,-8.8794,loss_of_function,-2.10964921346351,0.7128705604689218,0.0209264409110467,Benign,0.7009,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222L,NP_000240:p.Asn222Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71118,0.00408,-0.4001200328235688,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0641,2.6971,-7.8795,loss_of_function,-1.99811870522987,0.7266391098857113,0.0517146023394194,Benign,0.1429,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222M,NP_000240:p.Asn222Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.86179,0.42687,-0.0273893352807058,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0234,2.6971,-8.8794,loss_of_function,-2.2518593126045,0.6953145857979602,0.2788683897553031,Benign,0.179,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222P,NP_000240:p.Asn222Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.83322,-0.16327,1.0540827531019632,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.03,H,-0.1536,2.6971,-4.0722,loss_of_function,-1.30928514608991,0.8116762808729847,0.0002054868281917,Benign,0.1966,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222Q,NP_000240:p.Asn222Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.92646,-0.07347,0.1371415082463056,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,0.0155,2.6971,-4.5577,gain_of_function,-1.43318482331114,0.7963807455476087,0.0091663503303331,Benign,0.4145,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222R,NP_000240:p.Asn222Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.75855,0.16633,-0.0143820681939127,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0428,2.6971,-7.8795,loss_of_function,-2.36036597081033,0.6819193335999878,0.12400248007421,Benign,0.7352,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222S,NP_000240:p.Asn222Ser,"hg38,3:g.37012087A>G",3.1841049481e-05,3.9819379296e-06,0.327,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.0304,-0.14456,0.2951111618967261,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483557,Conflicting classifications of pathogenicity,1,92.03,H,0.0497,2.6971,-2.5758,gain_of_function,-0.110696890648999,0.9596431635384051,0.0003534239911899,Benign,0.0616,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222T,NP_000240:p.Asn222Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.11698,-0.04626,0.1805050822573289,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.03,H,-0.0132,2.6971,-5.1791,loss_of_function,-0.82642788791068,0.8712854777267202,0.0049939416388272,Benign,0.0853,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222V,NP_000240:p.Asn222Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16248,-0.31973,-0.1136101347719292,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0331,2.6971,-4.356,loss_of_function,-0.71853415992674,0.8846050630943089,0.0095916919586041,Benign,0.0962,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222W,NP_000240:p.Asn222Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32901,-0.04286,-0.679678243163348,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.1426,2.6971,-22.1673,loss_of_function,-3.14291140457354,0.585313340797725,0.6810782092653191,Pathogenic,0.7579,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N222Y,NP_000240:p.Asn222Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.38144,-0.62177,-0.1820514811188067,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,65.0,,False,65.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.03,H,-0.0533,2.6971,-8.8794,loss_of_function,-2.93022842828246,0.6115692605057135,0.3270923769788465,Uncertain,0.1928,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223C,NP_000240:p.Ala223Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2965,0.84966,0.6703072475996366,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.0493,2.4255,-8.8856,loss_of_function,-1.8977771159017,0.7390263764112969,0.302696977088461,Benign,0.4438,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223D,NP_000240:p.Ala223Asp,"hg38,3:g.37012090C>A",,,0.732,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.22519,-0.03401,-0.132216269047144,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1754898,Uncertain significance,1,90.72,H,-0.1178,2.4255,-6.3007,loss_of_function,-0.987476740064888,0.8514038407242482,0.0272837054756302,Benign,0.6632,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223E,NP_000240:p.Ala223Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28482,-0.06156,-0.3515772393911215,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1035,2.4255,-6.3007,loss_of_function,-2.00580413758109,0.725690335807721,0.0220217703274475,Benign,0.6477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223F,NP_000240:p.Ala223Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.70083,1.02619,-0.3529684251433584,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1672,2.4255,-22.1734,loss_of_function,-3.87525278200076,0.49490508744391265,0.6264162778637554,Uncertain,0.3811,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223G,NP_000240:p.Ala223Gly,"hg19,3:g.37053581C>G",,,0.586,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.44525,1.14082,0.6380421157325086,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,574890,Uncertain significance,2,90.72,H,-0.0266,2.4255,-5.7158,loss_of_function,-2.34161105261757,0.6842346464415997,0.0083138404192791,Benign,0.1179,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223H,NP_000240:p.Ala223His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.29805,0.72925,-0.3820659488681871,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.0984,2.4255,-7.8856,loss_of_function,-2.91679740345435,0.6132273335477243,0.1721550020559028,Benign,0.5934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223I,NP_000240:p.Ala223Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44357,0.38639,-0.2744612240013311,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1567,2.4255,-22.1734,loss_of_function,-3.07820869179819,0.5933009534461091,0.2595714197266227,Benign,0.1759,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223K,NP_000240:p.Ala223Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63645,0.42347,-0.1560937535049011,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1044,2.4255,-5.5638,loss_of_function,-2.18868512874535,0.7031135000690933,0.0222870646729781,Benign,0.8168,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223L,NP_000240:p.Ala223Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63306,0.19388,-0.4896392787432768,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.0856,2.4255,-7.3007,loss_of_function,-2.69504251428108,0.6406031897000226,0.0123724676576328,Benign,0.1354,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223M,NP_000240:p.Ala223Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.72461,0.85714,-0.1365957785817384,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.0524,2.4255,-8.8856,loss_of_function,-2.85747698964663,0.6205504961681708,0.4940629337705258,Uncertain,0.1593,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223N,NP_000240:p.Ala223Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28525,0.16531,0.0803336825244865,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.0777,2.4255,-4.2418,loss_of_function,-1.58766796303055,0.7773096521134093,0.0011200107727804,Benign,0.193,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223P,NP_000240:p.Ala223Pro,"hg19,3:g.37053580G>C",,,0.680,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.81136,3.23129,0.9145798212246308,Uncertain,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.149,2.4255,-4.6378,loss_of_function,-1.22360248950056,0.8222538879340134,0.0170434208356534,Benign,0.1955,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223Q,NP_000240:p.Ala223Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27911,0.14252,0.0409658644719923,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.08,2.4255,-5.1853,loss_of_function,-1.67971219049941,0.7659467029571086,0.0070273706493876,Benign,0.4842,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223R,NP_000240:p.Ala223Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47388,0.86973,-0.3304859548004096,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1998,2.4255,-22.1734,loss_of_function,-2.36648270640757,0.681164216657782,0.3335057460761136,Uncertain,0.8098,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223S,NP_000240:p.Ala223Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.34345,-0.36701,0.0907109495657282,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.72,H,0.0185,2.4255,-2.5107,gain_of_function,-0.72446488568005,0.8838729092477505,0.0001735851390443,Benign,0.09,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223T,NP_000240:p.Ala223Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07964,-0.13503,0.0183674052378868,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,0.0098,2.4255,-3.0528,gain_of_function,-0.492758212405959,0.9124773227997007,0.000962229047493,Benign,0.0746,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223V,NP_000240:p.Ala223Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06771,0.24796,-0.1434755719184954,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,491718,Uncertain significance,2,90.72,H,-0.0068,2.4255,-6.8857,loss_of_function,-1.34598053414256,0.8071461996264008,0.0940920937614198,Benign,0.0962,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223W,NP_000240:p.Ala223Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.94321,1.26293,-0.8015664507938897,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1781,2.4255,-22.1734,loss_of_function,-3.87525278200076,0.49490508744391265,0.755457678512783,Pathogenic,0.8659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A223Y,NP_000240:p.Ala223Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.38448,0.87517,-0.3560536328324698,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,95.1,,False,95.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.72,H,-0.1864,2.4255,-22.1734,loss_of_function,-3.87525278200076,0.49490508744391265,0.1629770030330129,Benign,0.6203,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224A,NP_000240:p.Val224Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.03671,2.44694,2.367598173183157,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.1583,1.2255,-6.5698,loss_of_function,-3.11694446316043,0.5885189849009538,0.5006746003882722,Uncertain,0.5461,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224C,NP_000240:p.Val224Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.02076,2.76156,2.2695501622239025,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.2658,1.2255,-22.1795,loss_of_function,-3.86485937542768,0.49618816356610207,0.8120216994883004,Pathogenic,0.9312,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224D,NP_000240:p.Val224Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.14077,4.29558,3.6065346172596446,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.4045,1.2255,-22.1795,loss_of_function,-4.66504870194212,0.3974040150905867,0.8551589967686746,Pathogenic,0.9932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224E,NP_000240:p.Val224Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.78611,3.68129,3.268402118827607,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.22,H,-0.3618,1.2255,-22.1795,loss_of_function,-5.09941793422558,0.3437807120630492,0.7858863061581892,Pathogenic,0.9791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224F,NP_000240:p.Val224Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.32693,3.58571,2.2381637822993983,Destabilizing,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.3151,1.2255,-22.1795,loss_of_function,-4.27065245458188,0.44609261435887126,0.5968475300566157,Uncertain,0.7088,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224G,NP_000240:p.Val224Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.87731,4.45204,4.184353715409801,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.3637,1.2255,-22.1795,loss_of_function,-5.65143372530959,0.27563382724417523,0.9018108733280528,Pathogenic,0.8082,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224H,NP_000240:p.Val224His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.48921,3.71599,2.82422833436161,Destabilizing,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.4075,1.2255,-22.1795,loss_of_function,-4.8016043939478,0.38054608246478533,0.8642806734761719,Pathogenic,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224I,NP_000240:p.Val224Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.22824,0.14864,0.3281863676811952,Neutral,Neutral,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455448,Uncertain significance,2,92.22,H,-0.073,1.2255,-2.4995,loss_of_function,-1.49802566872842,0.788376080290601,0.0011807846254688,Benign,0.0848,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224K,NP_000240:p.Val224Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.48456,4.1983,3.588982882662964,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.4008,1.2255,-22.1795,loss_of_function,-5.2345354963752,0.3271003179628452,0.8791721745905123,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224L,NP_000240:p.Val224Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.79866,1.66531,0.963554756466204,Neutral,Neutral,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1520598,Uncertain significance,1,92.22,H,-0.1439,1.2255,-3.6439,loss_of_function,-0.738640730600858,0.8821228874428824,0.0497378054564107,Benign,0.38,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224M,NP_000240:p.Val224Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.20865,2.78639,1.758858505677883,Uncertain,Neutral,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.1798,1.2255,-8.8916,loss_of_function,-2.4908827417479,0.6658069116372973,0.4016379106035805,Uncertain,0.4064,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224N,NP_000240:p.Val224Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07479,2.93571,2.61784328583648,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.3924,1.2255,-22.1795,loss_of_function,-4.8497881710527,0.37459774844691623,0.8236864433358715,Pathogenic,0.9386,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224P,NP_000240:p.Val224Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.75211,5.31531,7.178272450378172,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.4422,1.2255,-22.1795,loss_of_function,-5.65143372530959,0.27563382724417523,0.9073775040809005,Pathogenic,0.9061,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224Q,NP_000240:p.Val224Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.14994,2.92415,2.648709095666565,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.22,H,-0.3724,1.2255,-22.1795,loss_of_function,-5.09941793422558,0.3437807120630492,0.8442463915389253,Pathogenic,0.9619,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224R,NP_000240:p.Val224Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.30836,3.63503,2.858688352375173,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.4218,1.2255,-22.1795,loss_of_function,-5.45480173312835,0.2999082373956802,0.935114166417392,Pathogenic,0.9821,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224S,NP_000240:p.Val224Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.12651,2.85986,3.0635413757101,Uncertain,Destabilizing,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.2738,1.2255,-8.8916,loss_of_function,-4.39449961581372,0.43080356218332166,0.8241463361813773,Pathogenic,0.8058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224T,NP_000240:p.Val224Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.6063,1.05884,1.794032773684292,Neutral,Neutral,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.22,H,-0.181,1.2255,-7.3068,loss_of_function,-2.32063843714842,0.6868237361629647,0.1378336973853952,Benign,0.5733,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224W,NP_000240:p.Val224Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.55588,9.0949,2.658009363458514,Destabilizing,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.3556,1.2255,-22.1795,loss_of_function,-4.8016043939478,0.38054608246478533,0.9378081072511524,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V224Y,NP_000240:p.Val224Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.65938,3.15612,2.7322099891858853,Destabilizing,Uncertain,False,0.031,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.22,H,-0.3585,1.2255,-22.1795,loss_of_function,-4.8016043939478,0.38054608246478533,0.7460514213487487,Pathogenic,0.9776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225A,NP_000240:p.Ser225Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.83349,-1.02007,-0.979205189548364,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.96,H,-0.0196,1.657,-0.997,loss_of_function,-0.945745503211097,0.8565556023896888,3.179777455797524e-06,Benign,0.0851,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225C,NP_000240:p.Ser225Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32336,0.57517,-0.2082482989067663,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1104,1.657,-8.8916,loss_of_function,-0.570517917723506,0.9028778117577819,0.3779529067662068,Uncertain,0.1127,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225D,NP_000240:p.Ser225Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.18883,1.40442,0.4563770385626992,Uncertain,Uncertain,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.2264,1.657,-22.1795,loss_of_function,-4.6286128468801,0.40190205673775187,0.3471202683654902,Uncertain,0.9607,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225E,NP_000240:p.Ser225Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2552,1.06361,0.2145393456729272,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1318,1.657,-8.8916,loss_of_function,-4.03690701697345,0.474948715345328,0.1526152554135161,Benign,0.9585,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225F,NP_000240:p.Ser225Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94807,0.54762,-0.3184686890187677,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1248,1.657,-6.3068,loss_of_function,-2.87098500973567,0.6188829179865192,0.0682519594881531,Benign,0.5811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225G,NP_000240:p.Ser225Gly,"hg19,3:g.37053586A>G",,,0.645,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.73005,0.55068,0.7842290243815705,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,141669,Uncertain significance,2,91.96,H,-0.0521,1.657,-5.5698,loss_of_function,-2.49088747986992,0.6658063267115383,0.0053479583000398,Benign,0.0911,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225H,NP_000240:p.Ser225His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.99278,1.71837,-0.165070228420715,Uncertain,Uncertain,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1392,1.657,-8.8916,loss_of_function,-4.04597802783957,0.47382889025577696,0.3160049644452466,Benign,0.8446,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225I,NP_000240:p.Ser225Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.25209,2.77245,-0.746759434466277,Uncertain,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,928453,Uncertain significance,1,91.96,H,-0.2089,1.657,-22.1795,loss_of_function,-4.37626484843456,0.4330546619024916,0.1871291716435497,Benign,0.4802,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225K,NP_000240:p.Ser225Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.13358,1.26837,1.089343728582224,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1308,1.657,-5.4323,loss_of_function,-3.26922308880752,0.5697200408671782,0.0927148434792048,Benign,0.985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225L,NP_000240:p.Ser225Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.81348,1.55646,-0.8113972277006687,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.2052,1.657,-22.1795,loss_of_function,-4.37626484843456,0.4330546619024916,0.2231541556662891,Benign,0.2984,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225M,NP_000240:p.Ser225Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.02401,0.40578,-0.4755974255327977,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1762,1.657,-22.1795,loss_of_function,-4.37626484843456,0.4330546619024916,0.3090276793762784,Benign,0.4528,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225N,NP_000240:p.Ser225Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.10117,1.79014,-0.1122963792909131,Uncertain,Uncertain,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.0771,1.657,-7.8917,loss_of_function,-3.76326071557808,0.5087306166668123,0.2451580324904729,Benign,0.5279,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225P,NP_000240:p.Ser225Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.28186,6.16973,3.531909030055267,Uncertain,Uncertain,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.2812,1.657,-22.1795,loss_of_function,-5.12847230182196,0.34019392220294836,0.4743327378358401,Uncertain,0.9074,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225Q,NP_000240:p.Ser225Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42884,1.55476,0.0227409014662605,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1696,1.657,-22.1795,loss_of_function,-4.63298400315621,0.40136243325580684,0.2599898877448726,Benign,0.8889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225R,NP_000240:p.Ser225Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.04062,1.45918,0.3947610553450703,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,"1755307, 419297","Uncertain significance, Uncertain significance","2, 2",91.96,H,-0.1406,1.657,-6.3068,loss_of_function,-3.68144762835142,0.5188305216368555,0.0449219943926901,Benign,0.9687,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225T,NP_000240:p.Ser225Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.13291,0.51156,-0.5321978607689043,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,neutral,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.0353,1.657,-5.8918,loss_of_function,-0.718623541956533,0.8845940287960378,0.0057622101225807,Benign,0.181,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225V,NP_000240:p.Ser225Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.37047,0.17585,-1.1171894859076026,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1154,1.657,-8.8916,loss_of_function,-3.15834577798333,0.5834079524302238,0.0159518320409412,Benign,0.4156,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225W,NP_000240:p.Ser225Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74979,0.95646,0.0807447778534353,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.2155,1.657,-22.1795,loss_of_function,-4.72673134953883,0.38978923241771846,0.767798220149481,Pathogenic,0.7967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S225Y,NP_000240:p.Ser225Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.24563,0.40782,-0.0779438628008799,Neutral,Neutral,False,0.043,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.96,H,-0.1428,1.657,-8.8916,loss_of_function,-4.72673134953883,0.38978923241771846,0.2139753853355659,Benign,0.6325,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226A,NP_000240:p.Arg226Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45721,0.27925,0.7061616632887774,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.155,1.9186,-6.8826,loss_of_function,-2.44374687561622,0.6716258800291356,0.4008979149801838,Uncertain,0.8701,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226C,NP_000240:p.Arg226Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48091,0.89558,1.195515007741086,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.174,1.9186,-8.8825,loss_of_function,-3.35136923738465,0.5595790191503776,0.9219352475528908,Pathogenic,0.5563,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226D,NP_000240:p.Arg226Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.84818,0.96156,0.6663220621235094,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.2444,1.9186,-6.5607,loss_of_function,-2.11302462822844,0.7124538622423188,0.4199761900693572,Uncertain,0.9621,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226E,NP_000240:p.Arg226Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.40094,0.80442,0.5582993274753314,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1964,1.9186,-7.8826,loss_of_function,-2.09915252646616,0.7141663866596609,0.5945494378803711,Uncertain,0.8703,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226F,NP_000240:p.Arg226Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38975,0.46837,0.4085191317233266,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.25,T,-0.2651,1.9186,-22.1704,loss_of_function,-3.74891543047491,0.5105015560265359,0.9256667986885202,Pathogenic,0.9665,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226G,NP_000240:p.Arg226Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56619,1.44864,1.1342310797140456,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.2005,1.9186,-8.8825,loss_of_function,-3.15725907659632,0.5835421067704604,0.4993681521471859,Uncertain,0.6912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226H,NP_000240:p.Arg226His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.59286,0.73571,0.4598566639782714,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1298,1.9186,-7.8826,loss_of_function,-3.5347953657966,0.5369348856897846,0.6085978348176546,Uncertain,0.3593,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226I,NP_000240:p.Arg226Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02048,0.70442,0.4782148105205708,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.2624,1.9186,-22.1704,loss_of_function,-4.38169874076176,0.4323838426242737,0.8822735623626193,Pathogenic,0.9161,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226K,NP_000240:p.Arg226Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.11805,0.45204,0.3367944934982203,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.25,T,-0.0238,1.9186,-2.6928,loss_of_function,-1.04846899072163,0.8438742882232468,0.0010192630253794,Benign,0.2204,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226L,NP_000240:p.Arg226Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.07615,0.29252,-0.0052381644153554,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90319,Likely pathogenic,3,91.25,T,-0.1595,1.9186,-7.2976,loss_of_function,-3.32005832830965,0.5634443812446723,0.6169190417818782,Uncertain,0.8178,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226M,NP_000240:p.Arg226Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05815,0.90442,0.3482434648928911,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.2013,1.9186,-22.1704,loss_of_function,-4.57431998355512,0.40860456337479695,0.8230768999981639,Pathogenic,0.8646,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226N,NP_000240:p.Arg226Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.23471,0.43605,0.5786287190965902,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1482,1.9186,-2.6347,loss_of_function,-1.72296587939316,0.760606993110683,0.022240780742728,Benign,0.9185,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226P,NP_000240:p.Arg226Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.38281,6.61224,4.422156563096338,Destabilizing,Destabilizing,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.3751,1.9186,-22.1704,loss_of_function,-4.69754949018923,0.39339176125841085,0.82401400719745,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226Q,NP_000240:p.Arg226Gln,"hg19,3:g.37053590G>A, hg38,3:g.37012099G>A",,,0.858,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04767,0.53503,0.626099543164586,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90318,Pathogenic,3,91.25,T,-0.1399,1.9186,-8.8825,loss_of_function,-2.29522826329663,0.6899606467707301,0.3813084856453236,Uncertain,0.2957,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226S,NP_000240:p.Arg226Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.00245,0.80646,0.8501448332961417,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1444,1.9186,-4.7127,loss_of_function,-2.25707364693734,0.6946708711670992,0.0302433259882369,Benign,0.8951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226T,NP_000240:p.Arg226Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02256,0.8415,0.7394240669779062,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1524,1.9186,-5.4232,loss_of_function,-2.44373020268032,0.6716279383192438,0.1982678448985046,Benign,0.8243,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226V,NP_000240:p.Arg226Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.26124,0.92687,0.630421622735934,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.25,T,-0.1817,1.9186,-8.8825,loss_of_function,-4.57431998355512,0.40860456337479695,0.8334648055977251,Pathogenic,0.899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226W,NP_000240:p.Arg226Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.82027,0.36327,0.0193445357448618,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.25,T,-0.2507,1.9186,-22.1704,loss_of_function,-4.23874117441396,0.45003209284689716,0.9650382387114554,Pathogenic,0.6783,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R226Y,NP_000240:p.Arg226Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.55959,0.41803,0.5317211605690925,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.25,T,-0.2544,1.9186,-22.1704,loss_of_function,-4.23874117441396,0.45003209284689716,0.9333412712920306,Pathogenic,0.8923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227A,NP_000240:p.Glu227Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.55316,0.08027,0.4571036279555757,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.175,0.7136,-6.5698,loss_of_function,-2.89443863658578,0.6159875450037994,0.6494084336246175,Uncertain,0.8862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227C,NP_000240:p.Glu227Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.85362,0.17823,0.8104206552571369,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.324,0.7136,-22.1795,loss_of_function,-3.48700205847292,0.5428350158344387,0.9504546228568088,Pathogenic,0.9842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227D,NP_000240:p.Glu227Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34414,0.14388,0.6832526337220596,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.1313,0.7136,-4.7219,loss_of_function,-1.68845034064431,0.7648679698464396,0.1290418154747352,Benign,0.639,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227F,NP_000240:p.Glu227Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00067,-0.58367,-0.8453344332196122,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.3017,0.7136,-22.1795,loss_of_function,-4.34668135234575,0.43670677318819373,0.980050946328657,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227G,NP_000240:p.Glu227Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.89716,1.62041,1.5348065640194166,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.2126,0.7136,-8.8916,loss_of_function,-4.91807597572314,0.3661675527268413,0.8422241386675686,Pathogenic,0.884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227H,NP_000240:p.Glu227His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.75735,-0.98265,-0.3719986800941205,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.2251,0.7136,-8.8916,loss_of_function,-3.51828529973187,0.5389730693588708,0.839476250229138,Pathogenic,0.9782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227I,NP_000240:p.Glu227Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.62825,0.22177,0.3178836724407252,Uncertain,Uncertain,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.307,0.7136,-22.1795,loss_of_function,-5.53227039621761,0.29034465579913027,0.975208427527746,Pathogenic,0.9928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227K,NP_000240:p.Glu227Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.312,0.56497,0.5497796576236776,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.2089,0.7136,-8.8916,loss_of_function,-4.37897640156313,0.43271991803878784,0.898468889574538,Pathogenic,0.9818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227L,NP_000240:p.Glu227Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.40731,0.55204,-0.5487760883492898,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.3092,0.7136,-22.1795,loss_of_function,-5.53227039621761,0.29034465579913027,0.968590631542222,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227M,NP_000240:p.Glu227Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.06616,0.10782,-0.0251801405696466,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.258,0.7136,-22.1795,loss_of_function,-5.53227039621761,0.29034465579913027,0.9713848017755428,Pathogenic,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227N,NP_000240:p.Glu227Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.15852,-1.26871,0.128568234831265,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.1948,0.7136,-5.3068,loss_of_function,-2.05679919808895,0.7193949461270448,0.4740312026354201,Uncertain,0.8691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227P,NP_000240:p.Glu227Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.33643,6.09592,5.271297748398087,Destabilizing,Destabilizing,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.3438,0.7136,-8.8916,loss_of_function,-5.73209086542943,0.26567662506564194,0.9861985164174224,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227Q,NP_000240:p.Glu227Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.14252,-0.13265,0.4487124011203158,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.1543,0.7136,-7.8917,loss_of_function,-2.50108771633205,0.6645470976269047,0.7995019283907294,Pathogenic,0.846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227R,NP_000240:p.Glu227Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.24902,0.6415,0.1181465414224752,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.2694,0.7136,-8.8916,loss_of_function,-4.71681554338307,0.391013348305157,0.9556342756371892,Pathogenic,0.9839,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227S,NP_000240:p.Glu227Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.86042,0.74252,1.085983563765358,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.1885,0.7136,-6.5698,loss_of_function,-3.24419645337665,0.5728096032848806,0.6040564058701301,Uncertain,0.8456,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227T,NP_000240:p.Glu227Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.32707,0.04626,0.7109623002327833,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.33,S,-0.284,0.7136,-22.1795,loss_of_function,-3.40999375202982,0.5523417659565124,0.947564270534383,Pathogenic,0.969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227V,NP_000240:p.Glu227Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.18044,-0.4915,0.0711444464577926,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2758277,Uncertain significance,1,92.33,S,-0.2679,0.7136,-22.1795,loss_of_function,-5.53227039621761,0.29034465579913027,0.9685783747207904,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227W,NP_000240:p.Glu227Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39985,0.37857,-0.9036392357577168,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.3117,0.7136,-22.1795,loss_of_function,-4.66866069639747,0.39695811087173855,0.991383196635365,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E227Y,NP_000240:p.Glu227Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41805,-0.70408,-0.6488554228520305,Neutral,Neutral,False,0.064,,,,,,,Uncertain,Uncertain,Uncertain,33.2,,False,33.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.33,S,-0.3025,0.7136,-22.1795,loss_of_function,-1.44008994285905,0.7955283018420257,0.9148379438367698,Pathogenic,0.9829,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228A,NP_000240:p.Leu228Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.89168,3.9534,3.311854117225229,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.391,0.3064,-22.1795,loss_of_function,-5.35148266913889,0.3126630760561055,0.5502521399730554,Uncertain,0.8574,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228C,NP_000240:p.Leu228Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07173,3.17517,3.4248586686236027,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.3802,0.3064,-22.1795,loss_of_function,-5.81751408807427,0.2551310453766924,0.6993007500446644,Pathogenic,0.8598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228D,NP_000240:p.Leu228Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.19785,5.23401,4.303283981931394,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.5125,0.3064,-22.1795,loss_of_function,-6.96497681904496,0.11347565829464104,0.9678357195140348,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228E,NP_000240:p.Leu228Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.3989,4.96395,3.8422324630962814,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4806,0.3064,-22.1795,loss_of_function,-6.96497681904496,0.11347565829464104,0.9554083518538796,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228F,NP_000240:p.Leu228Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.3069,2.59694,1.9294371791706235,Uncertain,Uncertain,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.04,E,-0.3245,0.3064,-22.1795,loss_of_function,-6.06009790420827,0.22518383798875963,0.8589571912085989,Pathogenic,0.8951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228G,NP_000240:p.Leu228Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.27198,5.58027,4.951348095031707,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4659,0.3064,-22.1795,loss_of_function,-7.21559111364821,0.08253708055078102,0.935969194175558,Pathogenic,0.9808,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228H,NP_000240:p.Leu228His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.23307,4.46871,2.9935573303781062,Destabilizing,Uncertain,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4334,0.3064,-22.1795,loss_of_function,-6.7143625244417,0.14441423603850226,0.9753854311524004,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228I,NP_000240:p.Leu228Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.58592,2.11735,1.2084267929150172,Uncertain,Neutral,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.04,E,-0.1871,0.3064,-6.8918,loss_of_function,-2.81131577619478,0.6262491427413518,0.0418346602786803,Benign,0.1857,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228K,NP_000240:p.Leu228Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.68276,5.36463,4.443259576431561,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.04,E,-0.4118,0.3064,-8.8916,loss_of_function,-7.21559111364821,0.08253708055078102,0.9640265079277884,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228M,NP_000240:p.Leu228Met,"hg19,3:g.37055927C>A",3.18532203606e-05,2.3925543708e-05,0.631,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00968,1.89796,1.781618159607568,Neutral,Neutral,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,184050,Conflicting classifications of pathogenicity,1,94.04,E,-0.2104,0.3064,-6.8918,loss_of_function,-0.882534004628615,0.8643591231996093,0.3278946321373338,Uncertain,0.2343,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228N,NP_000240:p.Leu228Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.18389,3.93061,3.1321599616129125,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4588,0.3064,-22.1795,loss_of_function,-6.96497681904496,0.11347565829464104,0.9684171021293566,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228P,NP_000240:p.Leu228Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.31,7.3398,6.413739887536464,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4744,0.3064,-22.1795,loss_of_function,-7.21559111364821,0.08253708055078102,0.9766048728852336,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228Q,NP_000240:p.Leu228Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.17522,3.04966,3.0344341476596326,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4118,0.3064,-22.1795,loss_of_function,-6.96497681904496,0.11347565829464104,0.951167006681802,Pathogenic,0.975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228R,NP_000240:p.Leu228Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.73619,4.63333,3.7082224441381775,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1492671,Uncertain significance,1,94.04,E,-0.4712,0.3064,-22.1795,loss_of_function,-7.21559111364821,0.08253708055078102,0.954707042959639,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228S,NP_000240:p.Leu228Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.8384,4.39932,4.048044917420752,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.4214,0.3064,-22.1795,loss_of_function,-6.34860809881523,0.1895669746335603,0.727602714819958,Pathogenic,0.9759,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228T,NP_000240:p.Leu228Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.22454,3.29422,3.113609311121466,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.3941,0.3064,-22.1795,loss_of_function,-5.3124103555508,0.3174865910654601,0.733330411942096,Pathogenic,0.842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228V,NP_000240:p.Leu228Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.31247,2.57245,1.6133842124366151,Uncertain,Uncertain,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.04,E,-0.2183,0.3064,-5.8918,loss_of_function,-0.301625087783602,0.9360728924176158,0.0877254917890292,Benign,0.1673,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228W,NP_000240:p.Leu228Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.77432,4.8415,3.114638623349749,Destabilizing,Destabilizing,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.04,E,-0.4236,0.3064,-22.1795,loss_of_function,-6.7143625244417,0.14441423603850226,0.9614559325530744,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L228Y,NP_000240:p.Leu228Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.66442,4.62279,2.910998184168144,Destabilizing,Uncertain,False,0.192,,,,,,,,,,3.4,,False,3.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.04,E,-0.3487,0.3064,-8.8916,loss_of_function,-6.7143625244417,0.14441423603850226,0.9699784974847566,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229A,NP_000240:p.Ile229Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.54508,2.99626,2.813185773742948,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.19,1.8283,-8.8916,loss_of_function,-3.28460505725624,0.5678211219429495,0.1956546058204624,Benign,0.3215,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229C,NP_000240:p.Ile229Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.25763,2.93299,2.825248528217723,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.2377,1.8283,-22.1795,loss_of_function,-3.34164723896196,0.5607792092851912,0.4078511700288417,Uncertain,0.7632,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229D,NP_000240:p.Ile229Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.80371,3.68673,3.278593357988712,Destabilizing,Destabilizing,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.3818,1.8283,-22.1795,loss_of_function,-1.37719754955441,0.803292428795891,0.6454471708472838,Uncertain,0.946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229E,NP_000240:p.Ile229Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.4125,3.38061,2.8814694621472903,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.3627,1.8283,-22.1795,loss_of_function,-3.31651157079541,0.5638822318998661,0.1162365301953614,Benign,0.818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229F,NP_000240:p.Ile229Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.20527,3.50918,1.5976479273061317,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.62,E,-0.1391,1.8283,-6.5698,loss_of_function,-2.52844163241016,0.661170230156031,0.0408351992738155,Benign,0.2496,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229G,NP_000240:p.Ile229Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.33233,4.64422,4.4523333678216055,Destabilizing,Destabilizing,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.3484,1.8283,-22.1795,loss_of_function,-4.53337016461923,0.41365985824036205,0.5907869990195336,Uncertain,0.7916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229H,NP_000240:p.Ile229His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.87312,3.31259,2.406772607126798,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.3484,1.8283,-22.1795,loss_of_function,-3.10329007029124,0.5902046329442844,0.2267526248358711,Benign,0.7723,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229K,NP_000240:p.Ile229Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60179,2.97075,3.055311194114714,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.62,E,-0.2756,1.8283,-6.5698,loss_of_function,-2.63106083073106,0.6485017905912012,0.0202339758355182,Benign,0.6975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229L,NP_000240:p.Ile229Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.15818,0.43776,0.8536962650327942,Neutral,Neutral,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1810565,Uncertain significance,2,93.62,E,-0.0384,1.8283,-1.6921,loss_of_function,-0.88080475648471,0.8645726005602018,1.33745174248813e-05,Benign,0.0714,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229M,NP_000240:p.Ile229Met,"hg19,3:g.37055932A>G",,,0.612,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.13601,1.18673,1.540514671314671,Neutral,Neutral,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.62,E,-0.058,1.8283,-4.4324,loss_of_function,-0.592724816391636,0.9001363485783507,0.0013134074002046,Benign,0.0723,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229N,NP_000240:p.Ile229Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.82898,3.05578,2.757169779902161,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.2949,1.8283,-22.1795,loss_of_function,-3.62508476093563,0.5257885722866434,0.3078023174691311,Benign,0.6428,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229P,NP_000240:p.Ile229Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.48111,5.28946,6.397786090049331,Destabilizing,Destabilizing,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.4018,1.8283,-22.1795,loss_of_function,-4.53337016461923,0.41365985824036205,0.62282283353253,Uncertain,0.9628,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229Q,NP_000240:p.Ile229Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.78597,2.26633,2.5522570650918013,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.3225,1.8283,-22.1795,loss_of_function,-3.56869894449684,0.5327494560155793,0.4829237162122943,Uncertain,0.6295,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229R,NP_000240:p.Ile229Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.41616,3.37653,2.4240678354636427,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.62,E,-0.3142,1.8283,-8.8916,loss_of_function,-3.34224482874958,0.5607054362462969,0.1989639239136982,Benign,0.5759,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229S,NP_000240:p.Ile229Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.3331,3.37551,3.328593428532564,Destabilizing,Destabilizing,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.62,E,-0.2983,1.8283,-22.1795,loss_of_function,-3.16807170741983,0.5822072770079425,0.3500700533606201,Uncertain,0.4514,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229T,NP_000240:p.Ile229Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.23993,2.36293,2.0959865973272387,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,579414,Uncertain significance,2,93.62,E,-0.1355,1.8283,-6.5698,loss_of_function,-2.47211166592641,0.6681242191538476,0.0283394321677949,Benign,0.1653,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229V,NP_000240:p.Ile229Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.01778,0.94048,0.783503687241569,Neutral,Neutral,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2733246,Uncertain significance,1,93.62,E,-0.006,1.8283,-3.1639,loss_of_function,-0.922482555914903,0.8594274357965342,0.0019405416721118,Benign,0.0892,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229W,NP_000240:p.Ile229Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.7579,2.87245,1.5688408204445974,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.62,E,-0.3076,1.8283,-22.1795,loss_of_function,-3.63390904452135,0.5246992059191627,0.6806443940021296,Pathogenic,0.8574,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I229Y,NP_000240:p.Ile229Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.04744,3.68571,1.978316335449212,Uncertain,Uncertain,False,0.194,,,,,,,,,,16.7,,False,16.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.62,E,-0.3165,1.8283,-22.1795,loss_of_function,-3.63390904452135,0.5246992059191627,0.2466957528284389,Benign,0.7805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230A,NP_000240:p.Glu230Ala,"hg19,3:g.37055934A>C",,,0.743,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.6058,0.33946,0.3319746456098743,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3230791,Uncertain significance,1,94.84,E,-0.0666,1.8452,-5.7249,loss_of_function,-2.15541816975519,0.7072203384226208,0.0151471786907298,Benign,0.0929,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230C,NP_000240:p.Glu230Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76438,0.56327,0.9005488672110753,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.147,1.8452,-7.8948,loss_of_function,-2.39952963668614,0.67708454106211,0.3094321325985469,Benign,0.5493,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230D,NP_000240:p.Glu230Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94763,0.75952,0.2242056958974031,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.0254,1.8452,-4.3713,loss_of_function,-0.91599875654105,0.8602278671179842,0.0152935352691134,Benign,0.1198,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230F,NP_000240:p.Glu230Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.40534,-0.30068,-0.5046465236695946,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1298,1.8452,-8.8947,loss_of_function,-2.61855533668121,0.6500456059609477,0.1806120180265641,Benign,0.6387,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230G,NP_000240:p.Glu230Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.34964,1.40612,1.1075481822484272,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1003938,Uncertain significance,1,94.84,E,-0.1763,1.8452,-22.1825,loss_of_function,-3.01248797303915,0.6014142399205614,0.4682562479520601,Uncertain,0.1138,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230H,NP_000240:p.Glu230His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.01968,0.32551,-0.1497190893648631,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.0971,1.8452,-4.1944,loss_of_function,-2.28445603650554,0.6912904886162571,0.0596836566044273,Benign,0.2527,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230I,NP_000240:p.Glu230Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14679,0.07993,-0.4167389325595244,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1351,1.8452,-8.8947,loss_of_function,-3.07182755837425,0.594088710556465,0.4808293146517629,Uncertain,0.2941,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230K,NP_000240:p.Glu230Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.25482,-0.02925,-0.0414256470277418,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.0853,1.8452,-5.0875,loss_of_function,-0.851800677312618,0.8681531822655487,0.0258818686963162,Benign,0.0859,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230L,NP_000240:p.Glu230Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.37833,-0.35782,-0.564756743978751,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1321,1.8452,-7.8948,loss_of_function,-2.56792107009508,0.6562964552820463,0.2850618257919565,Benign,0.2719,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230M,NP_000240:p.Glu230Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43155,0.26599,-0.1272979630129878,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1539,1.8452,-22.1825,loss_of_function,-3.2367413335783,0.5737299450548351,0.7512565955659657,Pathogenic,0.3129,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230N,NP_000240:p.Glu230Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.25946,0.7983,0.342263883247289,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.0947,1.8452,-6.0874,loss_of_function,-0.188569904974569,0.9500296643895455,0.1078414840416138,Benign,0.1604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230P,NP_000240:p.Glu230Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.67216,-0.48265,0.6140893821159277,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.2193,1.8452,-4.8948,loss_of_function,-2.06624568095436,0.7182287686550046,0.0070257600754493,Benign,0.2021,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230Q,NP_000240:p.Glu230Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.11276,-0.20714,0.0864994716902006,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,483554,Uncertain significance,2,94.84,E,-0.041,1.8452,-6.0874,loss_of_function,-0.523183996487709,0.9087212302443205,0.0489064108283056,Benign,0.0906,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230R,NP_000240:p.Glu230Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12509,0.23061,-0.1804057147776983,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1509,1.8452,-6.0874,loss_of_function,-2.06757809979055,0.7180642802573411,0.1928512963345733,Benign,0.1553,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230S,NP_000240:p.Glu230Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.08386,0.57449,0.4651902819588421,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.0754,1.8452,-4.8074,loss_of_function,-1.78214288765671,0.7533015340437557,0.0219712738610942,Benign,0.1239,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230T,NP_000240:p.Glu230Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.12786,0.17041,0.2482201216503343,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.84,E,-0.1121,1.8452,-8.8947,loss_of_function,-2.22700411828837,0.6983829836437644,0.2754616505733694,Benign,0.142,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230V,NP_000240:p.Glu230Val,,,,,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.84808,0.01701,-0.3143597750473453,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.84,E,-0.1638,1.8452,-22.1825,loss_of_function,-3.0953067293102,0.5911901841315726,0.6783576034340546,Uncertain,0.1693,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230W,NP_000240:p.Glu230Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.3487,-0.1517,-0.6905093069554058,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.2076,1.8452,-22.1825,loss_of_function,-3.39716790261267,0.5539251295070701,0.6893951839106305,Pathogenic,0.8106,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E230Y,NP_000240:p.Glu230Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22847,-0.38367,-0.3047170548344308,Neutral,Neutral,False,0.085,,,,,,,Uncertain,Uncertain,Uncertain,75.0,,False,75.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.84,E,-0.1187,1.8452,-6.5729,loss_of_function,-2.32801052622876,0.6859136446156814,0.219992669581647,Benign,0.4744,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231A,NP_000240:p.Ile231Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.01662,3.50272,3.5464112867792705,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.148,2.1287,-6.0844,loss_of_function,-2.88473478757288,0.6171854945763711,0.1784053213437264,Benign,0.1938,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231C,NP_000240:p.Ile231Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.48724,2.76497,3.365726915330489,Uncertain,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.1372,2.1287,-7.8917,loss_of_function,-2.90571031749462,0.6145960450630071,0.1476541639333485,Benign,0.6869,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231D,NP_000240:p.Ile231Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.80435,5.0898,4.710661416511814,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.3542,2.1287,-22.1795,loss_of_function,-4.01532747219052,0.4776127310791501,0.7158465442152809,Pathogenic,0.9189,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231E,NP_000240:p.Ile231Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.2557,4.35544,4.363638223731772,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.3351,2.1287,-22.1795,loss_of_function,-4.01532747219052,0.4776127310791501,0.6310855734911448,Uncertain,0.8923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231F,NP_000240:p.Ile231Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.92202,2.15306,1.9587518774626445,Uncertain,Uncertain,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2717101,Uncertain significance,1,94.4,E,-0.0918,2.1287,-2.7219,loss_of_function,-1.50321054180093,0.7877360026809026,0.0004887330903178,Benign,0.2065,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231G,NP_000240:p.Ile231Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.70686,4.83503,5.690506475155612,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.253,2.1287,-8.8916,loss_of_function,-4.37358835149835,0.4333850780452468,0.3417557327369017,Uncertain,0.5982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231H,NP_000240:p.Ile231His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.83095,3.23231,3.4067452769390703,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.3207,2.1287,-22.1795,loss_of_function,-2.30187498341451,0.6891401027254103,0.6133080818494885,Uncertain,0.9105,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231K,NP_000240:p.Ile231Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.12581,5.85918,5.641013631858202,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.4,E,-0.2598,2.1287,-8.8916,loss_of_function,-4.12903725604082,0.4635751479737672,0.6522877625764824,Uncertain,0.9263,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231L,NP_000240:p.Ile231Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.66666,1.87721,0.7666708359358212,Neutral,Neutral,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.4,E,-0.0184,2.1287,-3.1913,loss_of_function,-0.185700145316489,0.9503839390027644,0.0005544549423424,Benign,0.1349,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231M,NP_000240:p.Ile231Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.41526,2.30442,1.5863443341510104,Uncertain,Neutral,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2912590,Uncertain significance,1,94.4,E,-0.04,2.1287,-6.3068,loss_of_function,-0.875424377060643,0.8652368136186248,0.029526043995431,Benign,0.1139,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231N,NP_000240:p.Ile231Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.14762,4.59932,3.208197078155555,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1756206,Uncertain significance,1,94.4,E,-0.1994,2.1287,-8.8916,loss_of_function,-4.01532747219052,0.4776127310791501,0.8679376852426474,Pathogenic,0.6923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231P,NP_000240:p.Ile231Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.91912,6.27755,6.704503031654081,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.3742,2.1287,-22.1795,loss_of_function,-4.37358835149835,0.4333850780452468,0.6974852260197809,Pathogenic,0.9194,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231Q,NP_000240:p.Ile231Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.72228,3.07483,3.2951654477953345,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.4,E,-0.2948,2.1287,-22.1795,loss_of_function,-3.50220754165552,0.5409578841874887,0.6321369452124881,Uncertain,0.8885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231R,NP_000240:p.Ile231Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.57891,5.7898,4.5809662367240245,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.4,E,-0.3544,2.1287,-22.1795,loss_of_function,-3.53290763683331,0.5371679276612434,0.5477415144440859,Uncertain,0.8866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231S,NP_000240:p.Ile231Ser,"hg19,3:g.37055937T>G",,,0.777,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.13976,4.10068,4.441000176969814,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3201535,Uncertain significance,1,94.4,E,-0.1978,2.1287,-7.8917,loss_of_function,-2.70805889685354,0.6389963046466404,0.2120155739898812,Benign,0.4327,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231T,NP_000240:p.Ile231Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.47704,2.34456,3.0244601531985853,Uncertain,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2710938,Uncertain significance,1,94.4,E,-0.1095,2.1287,-6.8918,loss_of_function,-2.84946515216761,0.6215395652757739,0.1903885235929593,Benign,0.1412,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231V,NP_000240:p.Ile231Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.1995,0.70204,1.000973373722032,Neutral,Neutral,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1756149,Conflicting classifications of pathogenicity,1,94.4,E,0.0327,2.1287,-0.9789,gain_of_function,-0.0674621815800613,0.9649805303070489,2.842285835265815e-05,Benign,0.0497,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231W,NP_000240:p.Ile231Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.84077,4.30544,3.43401319389112,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.4,E,-0.28,2.1287,-22.1795,loss_of_function,-2.90873807953872,0.6142222649019848,0.556181151387229,Uncertain,0.9107,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I231Y,NP_000240:p.Ile231Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.47377,9.0517,3.513380191594133,Destabilizing,Destabilizing,False,0.071,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.4,E,-0.2067,2.1287,-6.0844,loss_of_function,-1.92911620549263,0.7351575354049779,0.0572925114342003,Benign,0.772,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232A,NP_000240:p.Gly232Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32194,0.03537,-0.141894934120858,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.0257,2.9332,-4.9818,loss_of_function,-0.0854402061732034,0.9627611257338321,0.0005008709824607,Benign,0.0725,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232C,NP_000240:p.Gly232Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.56233,0.79354,0.2046349522407126,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1003,2.9332,-7.8887,loss_of_function,-0.381024124603173,0.9262710043117566,0.0113024988116495,Benign,0.1067,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232D,NP_000240:p.Gly232Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02524,1.34762,0.0072985423902305,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.0806,2.9332,-3.9345,loss_of_function,0.0429922550474747,0.9786162376403645,1.5351209468345612e-05,Benign,0.1202,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232E,NP_000240:p.Gly232Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64983,0.86395,-0.3705172763514047,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,186461,Uncertain significance,2,93.48,E,-0.0714,2.9332,-2.2594,loss_of_function,0.0463345847950684,0.9790288514894877,2.4967785646969947e-06,Benign,0.104,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232F,NP_000240:p.Gly232Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.574,-0.04252,-1.2632817869736184,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.2113,2.9332,-22.1765,loss_of_function,-1.8721473885839,0.7421903911073899,0.0157914506722187,Benign,0.2631,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232H,NP_000240:p.Gly232His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64888,0.41769,-0.910787662505731,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1029,2.9332,-5.8887,loss_of_function,-1.61029339005405,0.7745165212025698,0.0020631717234543,Benign,0.1474,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232I,NP_000240:p.Gly232Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.77304,0.85782,-1.0393805129109024,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.257,2.9332,-22.1765,loss_of_function,-2.47381471884471,0.6679139756192634,0.0323863993287793,Benign,0.1246,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232K,NP_000240:p.Gly232Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.88446,0.35578,-0.6052739139946983,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1122,2.9332,-3.8013,loss_of_function,-0.760897106797627,0.8793753162145516,3.449147586187003e-05,Benign,0.1424,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232L,NP_000240:p.Gly232Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.2673,0.77959,-1.1798167917501583,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.2252,2.9332,-22.1765,loss_of_function,-2.07564872910223,0.7170679532409729,0.0216767767276514,Benign,0.1839,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232M,NP_000240:p.Gly232Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.35466,0.21667,-0.7173505915237982,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1634,2.9332,-22.1765,loss_of_function,-2.47381471884471,0.6679139756192634,0.0130713162607267,Benign,0.2404,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232N,NP_000240:p.Gly232Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.30026,0.54626,-0.4138941929787959,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.0822,2.9332,-4.1883,loss_of_function,-0.254953716217641,0.9418345185047948,1.7301387337847346e-05,Benign,0.1452,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232P,NP_000240:p.Gly232Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.89322,5.03163,1.975342834788304,Uncertain,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1915,2.9332,-6.5668,loss_of_function,-1.73370533743869,0.7592811965985784,0.0070322044830357,Benign,0.5982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232Q,NP_000240:p.Gly232Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.73433,0.58503,-0.363786767561256,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.0915,2.9332,-5.4293,loss_of_function,-0.787720976859295,0.8760638834385084,0.0002205893004657,Benign,0.1264,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232R,NP_000240:p.Gly232Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.68177,-0.54388,-0.9837882219157712,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,433854,Conflicting classifications of pathogenicity,1,93.48,E,-0.112,2.9332,-6.8887,loss_of_function,-0.254455641017976,0.9418960063712852,0.0005991431731402,Benign,0.1087,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232S,NP_000240:p.Gly232Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.75915,0.14184,0.1477681516068524,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.0216,2.9332,-3.0308,loss_of_function,-0.36697961152118,0.9280048130737419,2.800427252059025e-06,Benign,0.0717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232T,NP_000240:p.Gly232Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.14318,0.45068,-0.3377392347845376,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.1072,2.9332,-4.7188,loss_of_function,-0.970220008148938,0.8535342010168716,3.0126468296782912e-05,Benign,0.0761,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232V,NP_000240:p.Gly232Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2537,0.77687,-0.9316467654088184,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,646770,Uncertain significance,2,93.48,E,-0.1192,2.9332,-6.3038,loss_of_function,-1.25109335238152,0.8188601142475009,0.0014292428267916,Benign,0.095,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232W,NP_000240:p.Gly232Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.29077,0.09286,-1.6131608722075808,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.2111,2.9332,-22.1765,loss_of_function,-2.28821027132982,0.6908270246859032,0.1004547186712222,Benign,0.2682,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G232Y,NP_000240:p.Gly232Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47282,-0.13537,-1.127845815997766,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,63.5,,False,63.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.48,E,-0.2117,2.9332,-22.1765,loss_of_function,-2.28821027132982,0.6908270246859032,0.0244302895980105,Benign,0.1974,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233A,NP_000240:p.Cys233Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.75691,0.46122,0.5717379860238836,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.71,E,-0.1113,3.116,-3.7188,loss_of_function,-1.76884476043676,0.7549432007471395,0.0049711292305104,Benign,0.2219,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233D,NP_000240:p.Cys233Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.62554,0.63776,1.2882818168350578,Uncertain,Uncertain,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.71,E,-0.2368,3.116,-7.3037,loss_of_function,-2.36619324075756,0.6811999514730334,0.0100493032532155,Benign,0.4268,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233E,NP_000240:p.Cys233Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.10557,0.92211,0.8074293691126002,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.2207,3.116,-6.5668,loss_of_function,-2.32219348354806,0.6866317641766629,0.0376741867667137,Benign,0.5244,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233F,NP_000240:p.Cys233Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.3325,-0.86259,-0.502846395280539,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1092,3.116,-4.4964,loss_of_function,-0.611382120314262,0.8978330863130644,0.0021047213838437,Benign,0.0824,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233G,NP_000240:p.Cys233Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.50526,1.23095,2.5125877986347613,Neutral,Uncertain,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.71,E,-0.1183,3.116,-6.5668,loss_of_function,-2.36357599925013,0.6815230524756329,0.0264868581358014,Benign,0.1229,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233H,NP_000240:p.Cys233His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.60596,0.5881,0.3066247923050041,Uncertain,Uncertain,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.2217,3.116,-4.6408,loss_of_function,-1.52147897372741,0.7854807470407142,0.0001159222397423,Benign,0.2598,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233I,NP_000240:p.Cys233Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07192,-0.25782,-0.9017816820913,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1391,3.116,-4.4964,loss_of_function,-1.41988941570545,0.7980220765119743,0.0032520402485809,Benign,0.2477,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233K,NP_000240:p.Cys233Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47354,1.90714,1.4278963951569636,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.217,3.116,-5.7188,loss_of_function,-2.54771283819225,0.6587911811107602,0.005006744272109,Benign,0.5364,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233L,NP_000240:p.Cys233Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.75601,-0.73912,-1.3115839406090837,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1652,3.116,-3.1339,loss_of_function,-0.575895750550278,0.9022139130792649,0.0014227313100707,Benign,0.2376,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233M,NP_000240:p.Cys233Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05729,-0.59014,-0.6053126956460841,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.15,3.116,-6.5668,loss_of_function,-1.82314188889236,0.7482401675755825,0.020737458766358,Benign,0.3696,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233N,NP_000240:p.Cys233Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.29032,0.42721,0.5925724415372657,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.2551,3.116,-22.1765,loss_of_function,-2.81953367798834,0.6252346347942533,0.0383780895704542,Benign,0.2928,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233P,NP_000240:p.Cys233Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.50787,5.20884,5.487576646999807,Uncertain,Uncertain,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.71,E,-0.2428,3.116,-6.3038,loss_of_function,-3.42671221847414,0.5502778550584346,0.1883780971301257,Benign,0.8991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233Q,NP_000240:p.Cys233Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.20512,1.05374,0.2394972937339756,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.2032,3.116,-7.3037,loss_of_function,-1.99727588547989,0.7267431568013116,0.0167036624028979,Benign,0.3815,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233R,NP_000240:p.Cys233Arg,"hg19,3:g.37055942T>C, hg38,3:g.37014451T>C",,,0.787,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.6562,2.21565,0.5887156083196101,Uncertain,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2765261,Uncertain significance,1,91.71,E,-0.1848,3.116,-7.8887,loss_of_function,-2.49102181114589,0.6657897433852297,0.0296444895819959,Benign,0.2705,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233S,NP_000240:p.Cys233Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.66947,0.77755,1.4107984503508644,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,826745,Uncertain significance,2,91.71,E,-0.1036,3.116,-4.0308,loss_of_function,-0.512340266353461,0.9100598992469127,0.0042855575940869,Benign,0.1552,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233T,NP_000240:p.Cys233Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4541,0.20952,0.3468400211904943,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1381,3.116,-3.9819,loss_of_function,-0.877312084612256,0.8650037742904584,0.0021743103524698,Benign,0.2416,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233V,NP_000240:p.Cys233Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.11848,0.05952,-0.6559635594044466,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1341,3.116,-3.8887,loss_of_function,-1.44798446244475,0.7945537157421415,0.0068209146520128,Benign,0.2348,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233W,NP_000240:p.Cys233Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64717,0.16701,-0.5458195452103842,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.2026,3.116,-22.1765,loss_of_function,-3.04205764115559,0.5977638357114601,0.1484513366510475,Benign,0.258,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C233Y,NP_000240:p.Cys233Tyr,"hg19,3:g.37055943G>A, hg38,3:g.37014452G>A",,,0.606,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.67992,0.09252,0.0924166362072659,Neutral,Neutral,False,0.059,,,,,,,,,,18.0,,False,18.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.71,E,-0.1278,3.116,-6.3038,loss_of_function,-0.777567082730342,0.8773173915171631,0.004422503575558,Benign,0.131,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234A,NP_000240:p.Glu234Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.35574,0.08537,0.8909548052580857,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1370246,Uncertain significance,1,91.31,E,0.0036,2.5435,-4.5668,gain_of_function,-1.67368041216002,0.7666913318434314,0.0167978041818126,Benign,0.1206,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234C,NP_000240:p.Glu234Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07644,0.39796,1.318261687758391,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.1557,2.5435,-22.1765,loss_of_function,-1.79418505524464,0.7518149167751216,0.4302711988025601,Uncertain,0.5965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234D,NP_000240:p.Glu234Asp,"hg38,3:g.37014456G>C",,,0.495,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.71362,0.32959,0.7690503979698449,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1756788,Uncertain significance,1,91.31,E,0.0431,2.5435,-3.5312,gain_of_function,-0.246741213128165,0.9428483599766379,0.0040926876316358,Benign,0.1014,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234F,NP_000240:p.Glu234Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.18206,0.03333,0.1630800190393744,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0655,2.5435,-8.8886,loss_of_function,-1.8176438586594,0.748918904740475,0.1972321228447798,Benign,0.6117,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234G,NP_000240:p.Glu234Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7863,1.33061,1.878082375127275,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.0361,2.5435,-7.3037,loss_of_function,-2.31472226606666,0.6875540932212034,0.2851913336029263,Benign,0.1492,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234H,NP_000240:p.Glu234His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.73977,0.22041,0.396174004083894,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0487,2.5435,-7.3037,loss_of_function,-1.99206702160516,0.7273861960988133,0.1035818416974469,Benign,0.2639,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234I,NP_000240:p.Glu234Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.53021,0.26531,-0.132217346794507,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0708,2.5435,-8.8886,loss_of_function,-2.08034941889985,0.7164876485261773,0.2816922536236567,Benign,0.2462,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234K,NP_000240:p.Glu234Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4515,0.55544,0.814222974619477,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,231969,Uncertain significance,2,91.31,E,-0.0181,2.5435,-4.4964,loss_of_function,-1.69391375099503,0.7641935065395882,0.005800539913432,Benign,0.1022,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234L,NP_000240:p.Glu234Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.9871,-0.07109,-0.0129419146534587,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,182509,Uncertain significance,2,91.31,E,-0.0611,2.5435,-6.5668,loss_of_function,-1.93665086108858,0.7342273748636665,0.2115382890870726,Benign,0.304,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234M,NP_000240:p.Glu234Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.09559,0.1949,0.3964572435195168,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0896,2.5435,-22.1765,loss_of_function,-3.1806668741644,0.5806523914570578,0.7031344675108172,Pathogenic,0.3427,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234N,NP_000240:p.Glu234Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56995,0.79218,0.9063098868649122,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.0277,2.5435,-5.5668,loss_of_function,-1.21794113893751,0.8229527871520625,0.0423340196522092,Benign,0.1584,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234P,NP_000240:p.Glu234Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77159,2.82653,2.091715757783528,Uncertain,Uncertain,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.1611,2.5435,-6.0814,loss_of_function,-2.55979066259046,0.6573001619743127,0.1518695569985375,Benign,0.7139,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234Q,NP_000240:p.Glu234Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.1319,0.15442,0.7714431008376695,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,0.0252,2.5435,-5.7188,gain_of_function,-0.281878990702213,0.9385105672543904,0.0417833056969138,Benign,0.1001,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234R,NP_000240:p.Glu234Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.18605,0.82823,0.5191018340476578,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0827,2.5435,-5.3038,loss_of_function,-1.98875451385335,0.727795128393632,0.0372585567647223,Benign,0.1688,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234S,NP_000240:p.Glu234Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.24814,0.34864,1.1249987954761875,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.003,2.5435,-3.2163,loss_of_function,-1.49670668269928,0.7885389103952055,0.0072840945675094,Benign,0.1201,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234T,NP_000240:p.Glu234Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.12378,0.38776,0.7391113373548575,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.31,E,-0.0223,2.5435,-3.8887,loss_of_function,-1.26038759163418,0.8177127313971186,0.008168242157497,Benign,0.1241,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234V,NP_000240:p.Glu234Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14684,0.19048,0.0488044022833955,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.31,E,-0.0199,2.5435,-6.5668,loss_of_function,-2.18805764315543,0.7031909637737779,0.0205811926837012,Benign,0.1502,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234W,NP_000240:p.Glu234Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.39236,0.60306,-0.1393799378902904,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.1434,2.5435,-22.1765,loss_of_function,-3.26078943633509,0.5707611834448434,0.720281221255944,Pathogenic,0.7863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E234Y,NP_000240:p.Glu234Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.0463,0.11531,0.2844228181127262,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,63.6,,False,63.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.31,E,-0.0612,2.5435,-7.8887,loss_of_function,-2.49807022248563,0.6649196101689641,0.0814088187608595,Benign,0.4583,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235A,NP_000240:p.Asp235Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.98709,2.74524,1.6445929923485243,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.52,E,-0.1035,1.7814,-6.3068,loss_of_function,-2.23398891119972,0.6975207041841882,0.1082006979158908,Benign,0.5026,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235C,NP_000240:p.Asp235Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.44812,2.75272,1.785681113431577,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.52,E,-0.1581,1.7814,-8.8916,loss_of_function,-1.37323454504043,0.8037816655469276,0.1983405303684762,Benign,0.7213,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235E,NP_000240:p.Asp235Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.69191,1.89932,1.4663917214677598,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2566511,Uncertain significance,2,88.52,E,-0.0376,1.7814,-4.1913,loss_of_function,-0.411010573069628,0.9225691481642037,0.0125836439089612,Benign,0.296,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235F,NP_000240:p.Asp235Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.07808,1.31224,0.6322911688898577,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.2036,1.7814,-6.3068,loss_of_function,-2.35413248385486,0.6826888636106061,0.0232899575423521,Benign,0.8869,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235G,NP_000240:p.Asp235Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.1677,4.93469,2.9740875427661173,Destabilizing,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2769716,Uncertain significance,1,88.52,E,-0.116,1.7814,-6.5698,loss_of_function,-2.83197158311357,0.6236991633428068,0.209776508029494,Benign,0.5159,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235H,NP_000240:p.Asp235His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.21388,2.20918,0.9009192100837798,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.1158,1.7814,-6.8918,loss_of_function,-2.91974298519935,0.612863698624334,0.0721416343135599,Benign,0.6649,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235I,NP_000240:p.Asp235Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74872,1.26122,0.3999518433445154,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.209,1.7814,-8.8916,loss_of_function,-2.96437158730252,0.6073542544086535,0.4886012810759383,Uncertain,0.7478,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235K,NP_000240:p.Asp235Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.27392,3.84456,1.919071763804602,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.1721,1.7814,-5.8918,loss_of_function,-2.6118135368574,0.6508778876881839,0.2199815013757741,Benign,0.8773,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235L,NP_000240:p.Asp235Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65223,3.27551,0.3601051892230905,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.2027,1.7814,-8.8916,loss_of_function,-3.03162488345616,0.5990517697683648,0.2460155913546194,Benign,0.8023,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235M,NP_000240:p.Asp235Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.70373,2.7,0.8604348790641905,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.2092,1.7814,-22.1795,loss_of_function,-3.76848488407153,0.5080856879992857,0.5403919218597281,Uncertain,0.8703,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235N,NP_000240:p.Asp235Asn,"hg38,3:g.37014457G>A",,,0.452,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.35216,1.89524,0.90619679606529,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,3072469,Uncertain significance,1,88.52,E,-0.0558,1.7814,-3.4995,loss_of_function,-0.92272912756628,0.8593969962870177,0.0016320020882819,Benign,0.167,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235P,NP_000240:p.Asp235Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.30717,4.41667,4.446529992664052,Destabilizing,Destabilizing,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.52,E,-0.2404,1.7814,-6.3068,loss_of_function,-2.81084024526544,0.6263078474958043,0.1914803936384923,Benign,0.9816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235Q,NP_000240:p.Asp235Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.91251,3.14184,1.5060891836765584,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.1355,1.7814,-7.3068,loss_of_function,-1.78739888617112,0.752652675929269,0.4249992382483077,Uncertain,0.7475,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235R,NP_000240:p.Asp235Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.42883,3.66088,1.4723590773426454,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.2862,1.7814,-22.1795,loss_of_function,-2.3998295570747,0.6770475155992444,0.3149979313954537,Benign,0.9046,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235S,NP_000240:p.Asp235Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.46204,2.63163,2.107159753177963,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.52,E,-0.1,1.7814,-4.3682,loss_of_function,-1.90011311192405,0.7387379954366153,0.020830250603919,Benign,0.279,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235T,NP_000240:p.Asp235Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.67991,2.42891,1.4023063443565134,Uncertain,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.52,E,-0.1429,1.7814,-6.8918,loss_of_function,-2.27160494034772,0.6928769689014379,0.2768752024861995,Benign,0.6174,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235V,NP_000240:p.Asp235Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.58439,1.35068,0.5816604010461124,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,141115,Conflicting classifications of pathogenicity,1,88.52,E,-0.1637,1.7814,-8.8916,loss_of_function,-2.6817356230542,0.6422459383285621,0.1785306428752451,Benign,0.4944,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235W,NP_000240:p.Asp235Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.6217,1.74592,0.4870476983039201,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.52,E,-0.2651,1.7814,-22.1795,loss_of_function,-3.83566366638861,0.4997924021643926,0.7557549075600953,Pathogenic,0.9697,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D235Y,NP_000240:p.Asp235Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.32776,1.39388,1.0134089165876632,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1756836,Uncertain significance,1,88.52,E,-0.1566,1.7814,-7.8917,loss_of_function,-3.28657400520925,0.5675780534084341,0.25520046876931,Benign,0.5104,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236A,NP_000240:p.Lys236Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05717,0.18265,0.2045671332685711,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0653,3.1643,-3.3007,gain_of_function,-0.215172764830079,0.9467455155378142,0.0006236888119963,Benign,0.1023,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236C,NP_000240:p.Lys236Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.24694,1.10714,0.9164152167824576,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,-0.1012,3.1643,-22.1734,loss_of_function,-2.26898028587483,0.6932009850418133,0.3506098706407857,Uncertain,0.3506,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236D,NP_000240:p.Lys236Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.3806,0.4432,-0.0486149873813651,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,-0.0409,3.1643,-2.7564,loss_of_function,-0.822338415752441,0.8717903270311038,0.000156318384165,Benign,0.1311,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236E,NP_000240:p.Lys236Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.17738,0.01361,-0.1197744946072953,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525803,Uncertain significance,2,86.2,T,0.0413,3.1643,-3.1308,gain_of_function,-0.103299085440567,0.9605564297666437,0.0002177536316125,Benign,0.0644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236F,NP_000240:p.Lys236Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09375,0.8085,-0.1373715007701859,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.2,T,-0.1021,3.1643,-22.1734,loss_of_function,-2.6752279982211,0.643049310926065,0.1353970650522214,Benign,0.4781,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236G,NP_000240:p.Lys236Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14676,0.76293,0.6835214322560257,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,-0.0092,3.1643,-6.3007,loss_of_function,-0.609660499030766,0.8980456221303419,0.0338337902076121,Benign,0.1416,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236H,NP_000240:p.Lys236His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48391,0.13163,-0.2028031077958092,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,-0.0411,3.1643,-22.1734,loss_of_function,-2.30945081014355,0.6882048595677864,0.0339279675507958,Benign,0.1603,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236I,NP_000240:p.Lys236Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.44136,0.78707,-0.0043594110381772,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.2,T,0.0066,3.1643,-7.3007,gain_of_function,-2.08502897933137,0.7159099522521205,0.0748039709995511,Benign,0.1805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236L,NP_000240:p.Lys236Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.19712,0.18469,-0.2681861094435489,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.2,T,-0.0002,3.1643,-8.8856,loss_of_function,-1.1973418794443,0.8254957857160733,0.0326425627991767,Benign,0.1625,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236M,NP_000240:p.Lys236Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39135,-0.07857,0.0862679616803191,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0318,3.1643,-7.8856,gain_of_function,-1.70939071600684,0.7622828601975071,0.0133094855324339,Benign,0.1319,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236N,NP_000240:p.Lys236Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.33632,0.40034,0.1792453075777295,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"1720824, 826826","Uncertain significance, Uncertain significance","1, 1",86.2,T,0.0329,3.1643,-6.0783,gain_of_function,-1.10773405081343,0.8365579590727191,0.0029716968667193,Benign,0.1152,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236P,NP_000240:p.Lys236Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.81472,-0.71633,1.402987397895001,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,-0.1107,3.1643,-3.6378,loss_of_function,-0.478392912238818,0.9142507330384844,0.0008624684520997,Benign,0.128,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236Q,NP_000240:p.Lys236Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27102,0.15816,0.1725952094774863,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0681,3.1643,-2.9084,gain_of_function,0.0322587022662611,0.9772911701388673,0.0009935868745397,Benign,0.084,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236R,NP_000240:p.Lys236Arg,"hg19,3:g.37055952A>G",,,0.612,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.0165,-0.07551,-0.0321877040767021,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.2,T,0.1185,3.1643,-5.8857,gain_of_function,-1.25961557447642,0.8178080376640366,0.0068136110919057,Benign,0.0774,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236S,NP_000240:p.Lys236Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.11919,0.02109,0.1705662882221792,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0524,3.1643,-3.8413,gain_of_function,-0.730963578747172,0.8830706392854207,9.88686946098724e-05,Benign,0.1108,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236T,NP_000240:p.Lys236Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.463,0.29456,0.1914541078299186,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0369,3.1643,-4.5638,gain_of_function,-0.235154808497519,0.944278712866143,0.0008957206298768,Benign,0.077,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236V,NP_000240:p.Lys236Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54842,0.66054,0.1104454802751581,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.2,T,0.0248,3.1643,-6.8857,gain_of_function,-0.874262059233565,0.8653803028817294,0.0076865832159757,Benign,0.1503,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236W,NP_000240:p.Lys236Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21632,0.7915,-0.5245523555484832,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.2,T,-0.1111,3.1643,-22.1734,loss_of_function,-2.92332454914393,0.6124215510815555,0.48107045206876,Uncertain,0.5236,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K236Y,NP_000240:p.Lys236Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09239,0.71395,-0.1109853652798359,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,102.5,,False,102.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.2,T,-0.087,3.1643,-22.1734,loss_of_function,-2.28574678099531,0.6911311449570798,0.1891101973620061,Benign,0.3543,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237A,NP_000240:p.Thr237Ala,"hg19,3:g.37055954A>G",,,0.500,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.47929,0.06054,0.1773934730425785,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,85.4,T,0.0692,3.2885,-4.7127,gain_of_function,-0.220263032690455,0.946117117033313,,,0.06,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237C,NP_000240:p.Thr237Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88002,0.76871,0.8086789095129467,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,85.4,T,0.0121,3.2885,-8.8825,gain_of_function,-2.26628696473711,0.693533478148563,,,0.2004,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237D,NP_000240:p.Thr237Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.95104,-0.71463,0.0935313185919739,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,-,uncertain,uncertain,neutral,,,,85.4,T,-0.0472,3.2885,-4.8826,loss_of_function,-1.10704416578261,0.8366431260489051,,,0.154,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237E,NP_000240:p.Thr237Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42386,0.20782,0.0058744738074567,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0225,3.2885,-4.8826,loss_of_function,-1.36273778920439,0.8050775002358698,,,0.1247,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237F,NP_000240:p.Thr237Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30021,-0.19864,-0.0229113917746348,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0512,3.2885,-7.2976,loss_of_function,-2.22381852941512,0.6987762476799243,,,0.1308,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237G,NP_000240:p.Thr237Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.13808,0.73537,0.5669821844599634,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,85.4,T,-0.0061,3.2885,-5.0753,loss_of_function,-0.879576183399412,0.8647242690991958,,,0.1255,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237H,NP_000240:p.Thr237His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.72151,0.04184,-0.1494957790490064,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0396,3.2885,-8.8825,loss_of_function,-2.29868447396502,0.6895339742114796,,,0.1093,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237I,NP_000240:p.Thr237Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.15347,0.06293,-0.0363582646606791,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,419044,Uncertain significance,2,85.4,T,0.0301,3.2885,-7.2976,gain_of_function,-1.88983619493634,0.7400066908065056,,,0.0869,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237K,NP_000240:p.Thr237Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.08032,-0.05,-0.1219684305338048,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0007,3.2885,-2.1278,loss_of_function,-0.16717706420369,0.9526706313319925,,,0.09,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237L,NP_000240:p.Thr237Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28519,0.20884,-0.2940156927871351,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0146,3.2885,-5.8826,loss_of_function,-1.454981252843,0.793689955181171,,,0.0661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237M,NP_000240:p.Thr237Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.23146,0.26259,0.1116023987072445,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,0.0134,3.2885,-6.8826,gain_of_function,-1.50120984728666,0.787982990359197,,,0.0714,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237N,NP_000240:p.Thr237Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.89713,-0.0119,0.0908058514624671,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,-,uncertain,uncertain,neutral,,,,85.4,T,0.0157,3.2885,-4.2977,gain_of_function,-0.120027847591257,0.9584912478536286,,,0.0637,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237P,NP_000240:p.Thr237Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.44138,4.26361,2.901061259767493,Uncertain,Uncertain,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,-,uncertain,uncertain,neutral,3074364,Uncertain significance,1,85.4,T,-0.1045,3.2885,-6.5607,loss_of_function,-1.64293887186992,0.7704864048089897,,,0.0832,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237Q,NP_000240:p.Thr237Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30121,0.27279,0.230649781379908,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,0.0028,3.2885,-4.9757,gain_of_function,-1.00483594675056,0.8492608298219106,,,0.1062,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237R,NP_000240:p.Thr237Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22084,0.23503,-0.2059889902479489,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0071,3.2885,-2.8383,loss_of_function,-0.184936489196819,0.9504782130914209,,,0.0837,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237S,NP_000240:p.Thr237Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.03553,-0.59796,0.1394878309364805,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,neutral,,,DOWN,neutral,neutral,neutral,,,,85.4,T,0.111,3.2885,-3.6347,gain_of_function,-0.215517620498635,0.9467029427710496,,,0.0719,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237V,NP_000240:p.Thr237Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.03918,-0.00544,0.0543622124988391,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,0.0549,3.2885,-4.8826,gain_of_function,-0.544877588252503,0.9060431352999712,,,0.0791,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237W,NP_000240:p.Thr237Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07649,-0.11769,-0.3908718003600275,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.12,3.2885,-22.1704,loss_of_function,-2.91413443804697,0.613556079210121,,,0.3521,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T237Y,NP_000240:p.Thr237Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.49356,-0.3085,0.0248751901485316,Neutral,Neutral,False,0.117,,,,,,,Uncertain,Uncertain,Uncertain,95.4,,False,95.4,,uncertain,,,UP,neutral,neutral,neutral,,,,85.4,T,-0.0505,3.2885,-6.8826,loss_of_function,-2.1770860813335,0.7045454137222006,,,0.1366,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238A,NP_000240:p.Leu238Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.88783,2.23844,1.9887491847479373,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.1328,2.199,-5.7004,loss_of_function,-2.11505875349983,0.7122027475046327,,,0.5274,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238C,NP_000240:p.Leu238Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.78993,2.16224,2.3140288012096226,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.206,2.199,-22.1581,loss_of_function,-2.61912300682234,0.6499755265314322,,,0.5658,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238D,NP_000240:p.Leu238Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.44421,3.4449,2.303469639910297,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.2654,2.199,-7.8703,loss_of_function,-2.92014029229391,0.6128146506781555,,,0.9117,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238E,NP_000240:p.Leu238Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.63841,3.74456,1.9037160273918297,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.2242,2.199,-6.063,loss_of_function,-2.86552482851358,0.6195569826543093,,,0.7504,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238F,NP_000240:p.Leu238Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.68227,1.3466,0.1473168736204921,Neutral,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.38,T,-0.0593,2.199,-4.3468,loss_of_function,-0.708398424469761,0.885856329467296,,,0.1079,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238G,NP_000240:p.Leu238Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.88779,3.67823,3.187758196907416,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.2076,2.199,-5.7004,loss_of_function,-2.74074951585824,0.63496061602332,,,0.7741,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238H,NP_000240:p.Leu238His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.206,2.44252,1.072170434531639,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.1832,2.199,-7.2854,loss_of_function,-1.91722676015349,0.736625298963871,,,0.3572,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238I,NP_000240:p.Leu238Ile,"hg38,3:g.37014466C>A",,,0.671,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",1.46233,2.39116,0.8659871743935715,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,81.38,T,-0.018,2.199,-7.8703,loss_of_function,-1.77971442083244,0.7536013306286233,,,0.2061,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238K,NP_000240:p.Leu238Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.9081,3.73639,1.9171089865771629,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,81.38,T,-0.2375,2.199,-8.8702,loss_of_function,-3.42989042404027,0.5498855024987,,,0.6653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238M,NP_000240:p.Leu238Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38056,1.9381,0.9003925172661084,Neutral,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,81.38,T,-0.0361,2.199,-6.8703,loss_of_function,-1.98172221038899,0.7286632730770587,,,0.1587,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238N,NP_000240:p.Leu238Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90989,2.29932,1.9212701718339624,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.2087,2.199,-7.2854,loss_of_function,-2.42457727143867,0.6739923862577809,,,0.6733,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238P,NP_000240:p.Leu238Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.50535,6.90238,5.1735308223688286,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3230792,Uncertain significance,1,81.38,T,-0.2243,2.199,-7.2854,loss_of_function,-2.52589097951952,0.6614851107293025,,,0.9087,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238Q,NP_000240:p.Leu238Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.04888,2.30408,1.68712060095864,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.2375,2.199,-22.1581,loss_of_function,-2.91586783572753,0.6133420895852038,,,0.4027,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238R,NP_000240:p.Leu238Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.99599,2.82993,1.481941877732124,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1516698,Uncertain significance,1,81.38,T,-0.2189,2.199,-6.8703,loss_of_function,-3.82913947573457,0.500597819828558,,,0.4426,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238S,NP_000240:p.Leu238Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.96171,3.10578,2.5671959857529827,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.1624,2.199,-5.5484,loss_of_function,-2.09273959911295,0.7149580687614226,,,0.5875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238T,NP_000240:p.Leu238Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.36441,2.64728,2.152641593554995,Uncertain,Uncertain,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,T,-0.1402,2.199,-6.5484,loss_of_function,-2.04701736979895,0.7206025223170077,,,0.5486,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238V,NP_000240:p.Leu238Val,"hg19,3:g.37055957C>G",,,0.765,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.97926,2.71667,1.2677466963140762,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479693,Uncertain significance,1,81.38,T,-0.0491,2.199,-6.8703,loss_of_function,-1.86330741736441,0.7432816941284752,,,0.1866,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238W,NP_000240:p.Leu238Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.41103,2.38912,0.3884688705749956,Uncertain,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.38,T,-0.1531,2.199,-3.2854,loss_of_function,-1.65005779154741,0.7696075672700416,,,0.2077,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L238Y,NP_000240:p.Leu238Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.89319,1.2915,0.5146256075101421,Neutral,Neutral,True,0.177,,,,,,,Uncertain,Uncertain,Uncertain,21.9,,False,21.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.38,T,-0.1468,2.199,-3.4441,loss_of_function,-1.13617739931587,0.833046600112403,,,0.2545,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239C,NP_000240:p.Ala239Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.10708,0.29082,0.664206462659524,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0145,2.8037,-8.8825,loss_of_function,-2.22230155919381,0.6989635191250804,0.2358792929591802,Benign,0.367,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239D,NP_000240:p.Ala239Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07987,-0.06701,0.1428485170270554,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0763,2.8037,-4.9757,loss_of_function,-1.62062342069973,0.7732412689000872,0.0011986543766441,Benign,0.2247,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239E,NP_000240:p.Ala239Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01631,-0.34184,-0.0327187036641257,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0598,2.8037,-4.5607,loss_of_function,-1.68220529176961,0.7656389271872011,0.0004311596201741,Benign,0.2791,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239F,NP_000240:p.Ala239Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.49001,-0.9381,-0.0328484050627048,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.1324,2.8037,-22.1704,loss_of_function,-2.81058617074043,0.626339213242348,0.0843680327211054,Benign,0.3677,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239G,NP_000240:p.Ala239Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34639,-0.07143,0.5127965062788467,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.99,T,0.0261,2.8037,-2.2102,gain_of_function,-0.136427880384165,0.956466647898672,0.0001833457763108,Benign,0.0996,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239H,NP_000240:p.Ala239His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42842,-0.66531,-0.1639401812345714,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0606,2.8037,-7.2976,loss_of_function,-1.19258610462174,0.8260828907306257,0.0059476019096545,Benign,0.3907,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239I,NP_000240:p.Ala239Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.37361,4.0483,0.2439086893005021,Uncertain,Uncertain,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0423,2.8037,-6.5607,loss_of_function,-2.59773177447319,0.6526162949126567,0.0792960398981334,Benign,0.4382,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239K,NP_000240:p.Ala239Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43144,-0.4466,-0.1583614407295336,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0563,2.8037,-2.9758,loss_of_function,-1.59663008560777,0.7762032693887356,0.0001601487559829,Benign,0.4591,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239L,NP_000240:p.Ala239Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64663,-0.1949,-0.3632438687504619,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0445,2.8037,-6.0753,loss_of_function,-1.20296244936209,0.8248019209082352,0.0243729306398979,Benign,0.1886,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239M,NP_000240:p.Ala239Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.78302,-0.29014,-0.083435305020168,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0176,2.8037,-8.8825,loss_of_function,-2.61150800236879,0.650915606217146,0.018799476660142,Benign,0.2705,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239N,NP_000240:p.Ala239Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44135,-0.6398,-0.0533885017726448,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0504,2.8037,-5.7127,loss_of_function,-1.02701740594494,0.8465225071701881,0.003770190483276,Benign,0.1892,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239P,NP_000240:p.Ala239Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.71795,2.70306,4.437327610179811,Uncertain,Destabilizing,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.1241,2.8037,-6.5607,loss_of_function,-2.66013150523871,0.6449129876270877,0.0494382438483981,Benign,0.7174,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239Q,NP_000240:p.Ala239Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.01281,-0.81224,0.0867451560686932,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0432,2.8037,-4.7952,loss_of_function,-1.64056114998274,0.7707799368821552,0.0008774855637679,Benign,0.2876,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239R,NP_000240:p.Ala239Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.36387,-0.35068,-0.3096939291170902,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.087,2.8037,-6.8826,loss_of_function,-2.07803644891843,0.7167731869137727,0.0029868141660021,Benign,0.4073,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239S,NP_000240:p.Ala239Ser,"hg38,3:g.37014469G>T",,,0.485,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.40379,0.1966,0.4082820365265499,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2452046,Uncertain significance,1,86.99,T,0.0445,2.8037,-4.2388,gain_of_function,-0.32963825214324,0.9326146401069715,0.000834422303966,Benign,0.0809,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239T,NP_000240:p.Ala239Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.52236,0.39558,0.4661799473627276,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,0.0281,2.8037,-6.2977,gain_of_function,-1.54482401645996,0.7825987788726249,0.0510514000476655,Benign,0.1186,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239V,NP_000240:p.Ala239Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.153,3.35306,0.1999701215684085,Uncertain,Uncertain,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,619507,Likely benign,1,86.99,T,0.0322,2.8037,-6.0753,gain_of_function,-1.11594576084414,0.8355442155047501,0.0162676826933111,Benign,0.2163,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239W,NP_000240:p.Ala239Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41903,-0.02041,-0.3632000126365037,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.1433,2.8037,-22.1704,loss_of_function,-3.43429707485159,0.5493414971819565,0.2852431410492874,Benign,0.8016,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A239Y,NP_000240:p.Ala239Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65884,-1.02551,-0.012073460067124,Neutral,Neutral,True,0.248,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,False,49.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.99,T,-0.0837,2.8037,-8.8825,loss_of_function,-2.90139780297424,0.6151284291633295,0.0570128889901475,Benign,0.4439,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240A,NP_000240:p.Phe240Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.88073,3.39762,3.574770119149003,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2013,1.7877,-5.8796,loss_of_function,-2.41233657451565,0.675503512165389,0.4538295156564917,Uncertain,0.9506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240C,NP_000240:p.Phe240Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.4185,3.28537,3.55316442802443,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.1704,1.7877,-6.0722,loss_of_function,-2.44250595493741,0.6717790728905249,0.1838107820228267,Benign,0.5575,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240D,NP_000240:p.Phe240Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.18091,5.16429,5.0528724324992025,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.4074,1.7877,-22.1673,loss_of_function,-3.9983988270419,0.4797025887421295,0.7228348983566102,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240E,NP_000240:p.Phe240Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.64716,5.0381,4.450411655526918,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.3768,1.7877,-22.1673,loss_of_function,-3.9983988270419,0.4797025887421295,0.7622330993643731,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240G,NP_000240:p.Phe240Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.11589,5.23095,5.661954455570863,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2469,1.7877,-7.8795,loss_of_function,-3.66980255880729,0.5202681167668304,0.5326842899507211,Uncertain,0.9786,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240H,NP_000240:p.Phe240His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.13342,2.95374,2.764690577727732,Uncertain,Uncertain,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2361,1.7877,-7.2946,loss_of_function,-2.24389838028004,0.6962973706148592,0.7864387187415882,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240I,NP_000240:p.Phe240Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.66052,1.90068,1.7875352591386988,Neutral,Neutral,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.1474,1.7877,-6.2946,loss_of_function,-1.50347839357809,0.7877029361192182,0.1178121387944462,Benign,0.5989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240K,NP_000240:p.Phe240Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.96622,5.74558,5.217204790718923,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.3836,1.7877,-22.1673,loss_of_function,-3.74116014326929,0.5114589537540553,0.8662875995410921,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240L,NP_000240:p.Phe240Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.73015,2.11701,1.36302592067315,Uncertain,Uncertain,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1757706,Uncertain significance,1,90.85,E,-0.0993,1.7877,-4.2946,loss_of_function,-1.18583654461259,0.8269161304602689,0.0139342649498714,Benign,0.9375,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240M,NP_000240:p.Phe240Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45272,1.65102,1.8074528638460667,Neutral,Neutral,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.1418,1.7877,-6.5576,loss_of_function,-1.79523759499647,0.7516849797218819,0.2252817782543583,Benign,0.764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240N,NP_000240:p.Phe240Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.48676,4.18095,3.4781270891465725,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.3371,1.7877,-22.1673,loss_of_function,-3.36000005066002,0.5585135368803599,0.5199987003348596,Uncertain,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240P,NP_000240:p.Phe240Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.32281,8.61701,8.571464831258403,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.3349,1.7877,-7.8795,loss_of_function,-4.0514642058414,0.47315161626031316,0.7798446519219334,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240Q,NP_000240:p.Phe240Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.74058,4.03061,3.3255256013809573,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2713,1.7877,-8.8794,loss_of_function,-3.8231051665463,0.5013427611506295,0.7947709957000308,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240R,NP_000240:p.Phe240Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.28386,5.23537,4.207034343925822,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.3121,1.7877,-7.8795,loss_of_function,-1.8580837090671,0.7439265659843421,0.3600777402669359,Uncertain,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240S,NP_000240:p.Phe240Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.84847,4.27891,4.581339133182099,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2634,1.7877,-22.1673,loss_of_function,-2.9635795781434,0.60745202870753,0.5559474030900939,Uncertain,0.9612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240T,NP_000240:p.Phe240Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.00328,3.38639,3.3389133304079825,Destabilizing,Destabilizing,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.2317,1.7877,-6.8796,loss_of_function,-2.88158092121553,0.6175748424371748,0.5225477587508032,Uncertain,0.9698,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240V,NP_000240:p.Phe240Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.77634,1.6381,2.1004845019563008,Uncertain,Uncertain,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.85,E,-0.135,1.7877,-4.9727,loss_of_function,-1.7927539697778,0.7519915856640371,0.0352670160016077,Benign,0.4664,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240W,NP_000240:p.Phe240Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45502,1.00884,1.9346400224604456,Neutral,Neutral,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.85,E,-0.1149,1.7877,-3.9254,loss_of_function,-1.59574025492277,0.7763131198498608,0.6071934605019786,Uncertain,0.8181,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F240Y,NP_000240:p.Phe240Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.0334,0.94456,1.9138301937506088,Neutral,Neutral,True,0.292,,,,,,,,,,0.5,,False,0.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.85,E,-0.0842,1.7877,-4.1247,loss_of_function,-0.415197770640169,0.9220522345628859,0.0168088419533897,Benign,0.3706,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241A,NP_000240:p.Lys241Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.86483,0.10816,0.6942184890014627,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0585,2.0001,-6.5668,loss_of_function,-1.69187060253544,0.7644457351986091,0.3359764318385937,Uncertain,0.2131,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241C,NP_000240:p.Lys241Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90018,0.60272,1.125794431724077,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.2083,2.0001,-22.1765,loss_of_function,-1.92124973964704,0.7361286582434355,0.8426896414888208,Pathogenic,0.3026,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241D,NP_000240:p.Lys241Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.59603,2.6034,0.8224409486704389,Uncertain,Uncertain,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.1675,2.0001,-6.5668,loss_of_function,-1.54660717082802,0.7823786467363759,0.1370888678490011,Benign,0.4945,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241E,NP_000240:p.Lys241Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.3067,1.27551,0.6457435732657787,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,134657,Uncertain significance,2,93.26,E,-0.0736,2.0001,-4.6408,loss_of_function,-0.855552809147212,0.8676899779513113,0.0304326054432641,Benign,0.133,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241F,NP_000240:p.Lys241Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.11965,0.32415,0.0536030958755778,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,E,-0.2092,2.0001,-22.1765,loss_of_function,-2.86869221271382,0.6191659660026896,0.781752167325753,Pathogenic,0.5777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241G,NP_000240:p.Lys241Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.7071,1.38912,1.2652728237292323,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.1244,2.0001,-7.8887,loss_of_function,-1.96278427636356,0.7310011794007241,0.2793806920532687,Benign,0.3428,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241H,NP_000240:p.Lys241His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03547,0.57517,0.212206150186367,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0686,2.0001,-6.5668,loss_of_function,-2.21914831901616,0.6993527896833928,0.3610969008923359,Uncertain,0.15,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241I,NP_000240:p.Lys241Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63217,-0.13707,0.1055608878551472,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.26,E,-0.1087,2.0001,-8.8886,loss_of_function,-2.05013700169102,0.7202174007341473,0.3172179131035156,Benign,0.2347,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241L,NP_000240:p.Lys241Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.72384,0.19626,-0.2386792997841708,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.26,E,-0.1023,2.0001,-7.8887,loss_of_function,-1.73948736029345,0.7585674002690754,0.5719791115053737,Uncertain,0.2371,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241M,NP_000240:p.Lys241Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.05949,0.3932,0.232996054591571,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0804,2.0001,-8.8886,loss_of_function,-2.38753707460824,0.6785650344824177,0.5569990174865631,Uncertain,0.1696,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241N,NP_000240:p.Lys241Asn,"hg19,3:g.37055968A>C, hg38,3:g.37014477A>C",,,0.562,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",2.30155,0.88605,0.4357267429108408,Uncertain,Uncertain,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0724,2.0001,-5.7188,loss_of_function,-0.500225190273884,0.9115555171395558,0.1129603227200198,Benign,0.2778,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241P,NP_000240:p.Lys241Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.09339,4.14184,3.084508358952489,Destabilizing,Destabilizing,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.3124,2.0001,-22.1765,loss_of_function,-3.60870327846323,0.5278108821865412,0.9051479822840712,Pathogenic,0.9416,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241Q,NP_000240:p.Lys241Gln,"hg19,3:g.37055966A>C",,,0.621,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.60731,0.32483,0.5213338495963976,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0487,2.0001,-4.8013,loss_of_function,-0.850531588141846,0.8683098525545918,0.0119850689888305,Benign,0.0837,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241R,NP_000240:p.Lys241Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20817,-0.45748,-0.1473805091267976,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,405379,Uncertain significance,2,93.26,E,0.0206,2.0001,-4.0814,gain_of_function,-0.0207354778315974,0.9707489872058255,0.0154118046858379,Benign,0.0685,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241S,NP_000240:p.Lys241Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.07676,0.72823,0.8600699607971648,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0531,2.0001,-3.5312,loss_of_function,-0.367706254429328,0.9279151083019477,0.0083119502283136,Benign,0.1926,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241T,NP_000240:p.Lys241Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.38796,0.53503,0.6200042158740587,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1507961,Uncertain significance,2,93.26,E,-0.0686,2.0001,-4.2449,loss_of_function,-0.517608677709037,0.9094095087551446,0.0235274196284033,Benign,0.0911,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241V,NP_000240:p.Lys241Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20558,0.39082,0.2276212148990036,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.26,E,-0.0875,2.0001,-7.8887,loss_of_function,-1.77574276294403,0.7540916356471264,0.3069553350146778,Benign,0.2069,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241W,NP_000240:p.Lys241Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.13553,-0.09388,-0.1450597930431973,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,E,-0.2183,2.0001,-22.1765,loss_of_function,-3.01475631125855,0.6011342113672764,0.9262208471301114,Pathogenic,0.573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K241Y,NP_000240:p.Lys241Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.30018,0.19184,0.1292012033611939,Neutral,Neutral,False,0.15,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.26,E,-0.1263,2.0001,-8.8886,loss_of_function,-1.63696735502437,0.7712235943554491,0.4334806912762429,Uncertain,0.4512,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242A,NP_000240:p.Met242Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.64935,2.88639,2.847521917865963,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.0761,2.4287,-2.2234,loss_of_function,-1.4269393838906,0.7971517511016328,0.0018236143811524,Benign,0.62,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242C,NP_000240:p.Met242Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.751,2.73061,2.8313932578906136,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.0929,2.4287,-4.4505,loss_of_function,-1.37009719400091,0.8041689745757268,0.005713976900977,Benign,0.7407,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242D,NP_000240:p.Met242Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.52289,4.96599,4.081551344147163,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.2216,2.4287,-8.9098,loss_of_function,-4.03258444072427,0.47548234157582975,0.7753088898976954,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242E,NP_000240:p.Met242Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.8094,3.12177,3.5264680224317924,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.2119,2.4287,-8.9098,loss_of_function,-4.03258444072427,0.47548234157582975,0.7399910114101955,Pathogenic,0.9836,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242F,NP_000240:p.Met242Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.29753,0.48912,1.0890031116492165,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.7,E,-0.1009,2.4287,-6.1025,loss_of_function,-1.47977907905661,0.7906286394832652,0.0198019394879009,Benign,0.5612,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242G,NP_000240:p.Met242Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.34893,5.06565,4.804109206496802,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.1911,2.4287,-8.9098,loss_of_function,-3.18713884553636,0.5798534203139137,0.1941062563665775,Benign,0.8743,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242H,NP_000240:p.Met242His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.9334,2.70646,2.3970803196425,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.2363,2.4287,-22.1976,loss_of_function,-3.43085568603935,0.5497663399686895,0.8148752337773973,Pathogenic,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242I,NP_000240:p.Met242Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.5009,2.1932,0.2568433523710639,Uncertain,Neutral,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,618211,Uncertain significance,2,94.7,E,-0.0062,2.4287,-4.74,loss_of_function,-0.558027500479606,0.9044197658812105,0.0060757485804919,Benign,0.4318,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242K,NP_000240:p.Met242Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.26648,5.22381,4.198154657086311,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.7,E,-0.1728,2.4287,-8.9098,loss_of_function,-4.3406190477651,0.4374551705686079,0.8368307554359959,Pathogenic,0.9651,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242L,NP_000240:p.Met242Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.02481,-0.07585,0.0091473007809905,Neutral,Neutral,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.7,E,0.0357,2.4287,-3.003,gain_of_function,-0.27107369802199,0.9398444911160021,0.0002779967393609,Benign,0.1258,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242N,NP_000240:p.Met242Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.91598,3.54524,2.656556251052336,Destabilizing,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.2311,2.4287,-22.1976,loss_of_function,-4.03258444072427,0.47548234157582975,0.6802225867812313,Pathogenic,0.9668,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242P,NP_000240:p.Met242Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.36619,6.82755,5.510364564618795,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.349,2.4287,-22.1976,loss_of_function,-3.79389277139652,0.5049490596654713,0.4767297697018918,Uncertain,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242Q,NP_000240:p.Met242Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.50814,2.38231,2.356003872837513,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.2232,2.4287,-22.1976,loss_of_function,-3.86005497863124,0.4967812710104892,0.5734929425348592,Uncertain,0.9313,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242R,NP_000240:p.Met242Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.75606,4.4102,3.145700076609582,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.7,E,-0.2678,2.4287,-22.1976,loss_of_function,-4.3406190477651,0.4374551705686079,0.7463785018320781,Pathogenic,0.9612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242S,NP_000240:p.Met242Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.72492,3.86905,3.781184970522616,Destabilizing,Destabilizing,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.1246,2.4287,-5.588,loss_of_function,-2.09646901891735,0.7144976682693412,0.1359696609500432,Benign,0.8575,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242T,NP_000240:p.Met242Thr,"hg38,3:g.37014479T>C",,,0.703,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",3.54427,2.93707,2.411315062528804,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.0711,2.4287,-6.9099,loss_of_function,-2.0250182518287,0.7233183347677558,0.2571174443820677,Benign,0.6516,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242V,NP_000240:p.Met242Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.08246,2.06429,0.7697088301141652,Uncertain,Neutral,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.7,E,-0.0309,2.4287,-3.2952,loss_of_function,-0.438768798692244,0.9191423682879141,0.0004687087610387,Benign,0.1403,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242W,NP_000240:p.Met242Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.08689,1.9466,2.1712038768811426,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.7,E,-0.2458,2.4287,-22.1976,loss_of_function,-3.43085568603935,0.5497663399686895,0.3779237823690135,Uncertain,0.9622,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M242Y,NP_000240:p.Met242Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.1342,1.62687,2.0581042080500627,Uncertain,Uncertain,False,0.089,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.7,E,-0.2254,2.4287,-22.1976,loss_of_function,-2.5441711670332,0.6592284038504723,0.3574126333348875,Uncertain,0.9407,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243A,NP_000240:p.Asn243Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05438,-0.28537,0.4109850577973312,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,0.016,2.9215,-7.3249,gain_of_function,-1.84843028994544,0.7451182899379274,0.0118758780364959,Benign,0.0915,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243C,NP_000240:p.Asn243Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32441,0.32517,0.9314074102047198,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.0419,2.9215,-8.9098,loss_of_function,-1.85261596329091,0.7446015645036729,0.0971371327950665,Benign,0.1107,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243D,NP_000240:p.Asn243Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32688,0.93163,0.951634735158648,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,0.0284,2.9215,-4.266,gain_of_function,-1.46068377732241,0.7929859730032117,0.0077966870003102,Benign,0.0768,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243E,NP_000240:p.Asn243Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.40678,-0.18469,0.6314153122472166,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,0.0066,2.9215,-3.2375,gain_of_function,-1.13597858862822,0.8330711434846233,0.0025164942416321,Benign,0.1039,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243F,NP_000240:p.Asn243Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.05397,-1.22381,-0.4277675186100005,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.0492,2.9215,-8.9098,loss_of_function,-2.02407328225545,0.7234349921781155,0.0380442803637614,Benign,0.232,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243G,NP_000240:p.Asn243Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38505,0.75714,1.5237117517772554,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.0907,2.9215,-22.1976,loss_of_function,-3.71729790424554,0.5144047703059309,0.0823349226948943,Benign,0.1575,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243H,NP_000240:p.Asn243His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.00818,-0.57823,-0.0334706006674917,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,0.0316,2.9215,-3.2952,gain_of_function,-0.419455345435188,0.9215266328249462,5.441206224977401e-05,Benign,0.0482,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243I,NP_000240:p.Asn243Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.99916,-0.41122,-0.3436064884315071,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1956718,Uncertain significance,2,95.47,E,-0.0423,2.9215,-8.9098,loss_of_function,-2.53571069474497,0.6602728573604111,0.0930489208167473,Benign,0.1098,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243K,NP_000240:p.Asn243Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71806,-0.7017,0.3088572603211909,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,0.0419,2.9215,-1.6153,gain_of_function,-0.178089060250169,0.9513235348363231,5.788943894746037e-05,Benign,0.0617,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243L,NP_000240:p.Asn243Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.99861,-0.24762,-0.5068558717572014,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.1166,2.9215,-22.1976,loss_of_function,-2.63775299052326,0.6476756369740139,0.0720813480481471,Benign,0.1155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243M,NP_000240:p.Asn243Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.08944,-0.26463,-0.1512113563031086,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.0707,2.9215,-22.1976,loss_of_function,-2.53093949078025,0.6608618671175279,0.0770045539128703,Benign,0.1397,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243P,NP_000240:p.Asn243Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.86794,3.11939,4.012794435250637,Uncertain,Uncertain,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,-0.1577,2.9215,-8.9098,loss_of_function,-3.71729790424554,0.5144047703059309,0.4845657427712438,Uncertain,0.7492,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243Q,NP_000240:p.Asn243Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.49146,-0.38435,0.3706118477842512,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,0.0356,2.9215,-4.662,gain_of_function,-0.479354460925577,0.9141320289204816,0.0008503793820349,Benign,0.0928,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243R,NP_000240:p.Asn243Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.5069,-0.26156,-0.2337176734905616,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.0043,2.9215,-4.3863,loss_of_function,-0.370578403037932,0.9275605387704695,0.0012590913469125,Benign,0.0789,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243S,NP_000240:p.Asn243Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16254,-0.27211,0.8040349202902344,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,631100,Uncertain significance,2,95.47,E,0.0654,2.9215,-3.5523,gain_of_function,-0.214673175226426,0.9468071903589457,0.0003511038532802,Benign,0.0655,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243T,NP_000240:p.Asn243Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47129,-0.31939,0.3497829902248045,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,0.0097,2.9215,-4.74,gain_of_function,-0.603851355755589,0.8987627665020499,0.0010224644717098,Benign,0.0654,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243V,NP_000240:p.Asn243Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.8301,-0.36905,-0.2395296016075854,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.0306,2.9215,-7.9098,loss_of_function,-2.63937389457387,0.6474755347968236,0.0261901680117399,Benign,0.1078,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243W,NP_000240:p.Asn243Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.27769,-2.01565,-0.9748877086597396,Uncertain,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.1221,2.9215,-22.1976,loss_of_function,-2.66811257086464,0.6439277173345946,0.0850873006206977,Benign,0.3882,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N243Y,NP_000240:p.Asn243Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.9042,-1.21497,-0.2623581865538443,Neutral,Neutral,False,0.057,,,,,,,Uncertain,Uncertain,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.0328,2.9215,-8.9098,loss_of_function,-1.67379025583881,0.7666777715347455,0.0436447136509461,Benign,0.0847,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244A,NP_000240:p.Gly244Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.20738,1.4432,2.902765714326465,Uncertain,Uncertain,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.1976,0.9565,-3.0273,loss_of_function,-2.42261269769281,0.674234914792181,0.0185597623295747,Benign,0.2629,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244C,NP_000240:p.Gly244Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",8.66209,3.69762,5.355703579147871,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2566499,Uncertain significance,1,95.09,E,-0.2772,0.9565,-6.9099,loss_of_function,-3.34013727655707,0.5609656156086131,0.1824951060831536,Benign,0.6795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244D,NP_000240:p.Gly244Asp,"hg19,3:g.37055976G>A",,,0.893,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",15.52486,5.35068,7.6187120197773295,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90339,Pathogenic,3,95.09,E,-0.3557,0.9565,-22.1976,loss_of_function,-6.00936406697386,0.23144697940296363,0.9013428207183056,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244E,NP_000240:p.Gly244Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",20.11432,8.42517,8.828816481956586,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.355,0.9565,-22.1976,loss_of_function,-6.00936406697386,0.23144697940296363,0.970048444548214,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244F,NP_000240:p.Gly244Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",41.41416,7.75816,8.241324988224928,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3933,0.9565,-22.1976,loss_of_function,-5.0411464038403,0.3509743890076656,0.9412352538260432,Pathogenic,0.9905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244H,NP_000240:p.Gly244His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",33.02066,8.23741,8.310883992078285,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.368,0.9565,-22.1976,loss_of_function,-5.8820480230279,0.2471642685141,0.9724173949205356,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244I,NP_000240:p.Gly244Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",17.317,8.77007,8.316038777862266,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3712,0.9565,-8.9098,loss_of_function,-3.82103475385456,0.5015983556055534,0.7583361083425845,Pathogenic,0.9312,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244K,NP_000240:p.Gly244Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",21.62068,11.11088,9.7642924305308,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3201,0.9565,-8.9098,loss_of_function,-6.22701228166968,0.20457809619804032,0.977337601956767,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244L,NP_000240:p.Gly244Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",17.04026,7.07653,7.655052509247994,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.4072,0.9565,-22.1976,loss_of_function,-3.9159599844108,0.4898797438237817,0.8668317078529907,Pathogenic,0.9592,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244M,NP_000240:p.Gly244Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",14.4438,5.20816,7.618306661696798,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.2674,0.9565,-6.9099,loss_of_function,-3.91612620835203,0.48985922331701337,0.8797044871228836,Pathogenic,0.9716,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244N,NP_000240:p.Gly244Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",14.07096,6.00612,6.341473799516284,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.356,0.9565,-22.1976,loss_of_function,-6.00936406697386,0.23144697940296363,0.9789311538793396,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244P,NP_000240:p.Gly244Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.47488,7.21667,10.091522255873318,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3853,0.9565,-8.9098,loss_of_function,-6.22701228166968,0.20457809619804032,0.9776888004379792,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244Q,NP_000240:p.Gly244Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",22.7872,6.46905,7.9824245821136115,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3589,0.9565,-22.1976,loss_of_function,-5.76080495715896,0.2621318425913429,0.959487810299249,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244R,NP_000240:p.Gly244Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",27.47556,11.34864,9.074155974390804,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1758254,Likely pathogenic,1,95.09,E,-0.3042,0.9565,-8.9098,loss_of_function,-6.22701228166968,0.20457809619804032,0.9809768091521978,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244S,NP_000240:p.Gly244Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",9.35751,4.2966,4.685615414929366,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,999651,Uncertain significance,1,95.09,E,-0.2284,0.9565,-7.9098,loss_of_function,-3.45503756091217,0.546781064061226,0.7673352593025851,Pathogenic,0.5744,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244T,NP_000240:p.Gly244Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",16.09564,7.63163,6.66954464127594,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3104,0.9565,-8.9098,loss_of_function,-3.38034584907865,0.5560018283318422,0.8945723216730146,Pathogenic,0.8549,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244V,NP_000240:p.Gly244Val,"hg19,3:g.37055976G>T, hg38,3:g.37014485G>T",,,0.781,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",14.77358,8.71327,7.352709070776999,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90340,Conflicting classifications of pathogenicity,1,95.09,E,-0.2975,0.9565,-5.588,loss_of_function,-3.26146404151806,0.5706779027806946,0.7396469795024501,Pathogenic,0.8555,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244W,NP_000240:p.Gly244Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",38.15212,11.11599,9.125260219834487,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3931,0.9565,-22.1976,loss_of_function,-5.8820480230279,0.2471642685141,0.978504824013648,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G244Y,NP_000240:p.Gly244Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",47.18696,12.55408,8.856573947625398,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,4.0,,False,4.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.09,E,-0.3937,0.9565,-22.1976,loss_of_function,-5.8820480230279,0.2471642685141,0.970695287493472,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245A,NP_000240:p.Tyr245Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.39871,2.56565,3.674456061534089,Uncertain,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2454,2.2434,-22.1976,loss_of_function,-2.29468831667731,0.6900273037045886,0.1617177422544647,Benign,0.5128,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245C,NP_000240:p.Tyr245Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.68613,2.70544,3.963877827445162,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,826980,Uncertain significance,2,96.02,E,-0.1364,2.2434,-6.5879,loss_of_function,-1.50132395020863,0.7879689042428095,0.0180180762802672,Benign,0.0802,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245D,NP_000240:p.Tyr245Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.32833,3.69286,5.001739731565669,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.1918,2.2434,-8.9098,loss_of_function,-3.1886028095039,0.5796726925421972,0.7230487726608285,Pathogenic,0.6769,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245E,NP_000240:p.Tyr245Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.56632,3.41054,4.692055476924167,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2205,2.2434,-8.9098,loss_of_function,-2.76909399764102,0.6314614622554382,0.6012723686458059,Uncertain,0.7687,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245F,NP_000240:p.Tyr245Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.42945,0.23299,-0.0941042246318824,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,-,uncertain,uncertain,neutral,,,,96.02,E,0.012,2.2434,-3.588,gain_of_function,-0.0785133513993515,0.963616252674139,0.0008665588585279,Benign,0.0633,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245G,NP_000240:p.Tyr245Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.55379,5.29898,5.466251573475415,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.316,2.2434,-22.1976,loss_of_function,-4.02712457584699,0.47615636719054627,0.6769605564033191,Uncertain,0.6299,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245H,NP_000240:p.Tyr245His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.78407,1.66633,2.2692155913986767,Neutral,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.0613,2.2434,-4.2095,loss_of_function,-0.473428016758735,0.9148636542010377,0.0063541209678324,Benign,0.1273,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245I,NP_000240:p.Tyr245Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.406,2.42381,2.594506896781126,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.1846,2.2434,-7.9098,loss_of_function,-1.72942482122427,0.7598096304769943,0.1698653898725756,Benign,0.3432,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245K,NP_000240:p.Tyr245Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.75561,3.02041,4.198614617473956,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2407,2.2434,-7.9098,loss_of_function,-2.3936711439843,0.6778077776684044,0.3360603572084604,Uncertain,0.5902,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245L,NP_000240:p.Tyr245Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32039,1.15442,1.7867713995981604,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.1349,2.2434,-2.662,loss_of_function,-0.703589080878477,0.8864500475983046,0.0005511934477342,Benign,0.305,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245M,NP_000240:p.Tyr245Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38774,1.70578,2.398933207688657,Neutral,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.1138,2.2434,-7.9098,loss_of_function,-2.05707614170231,0.7193607571693631,0.1188391387423014,Benign,0.4219,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245N,NP_000240:p.Tyr245Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.68891,2.46701,3.727145271861019,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2386,2.2434,-22.1976,loss_of_function,-2.54409264184473,0.659238097861152,0.4042897599546833,Uncertain,0.2537,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245P,NP_000240:p.Tyr245Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.45365,7.70646,8.27534149845146,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.3696,2.2434,-22.1976,loss_of_function,-4.02712457584699,0.47615636719054627,0.7960576416705106,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245Q,NP_000240:p.Tyr245Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.701,2.94932,3.731126292503121,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.177,2.2434,-5.3249,loss_of_function,-1.81434402323695,0.7493262726239431,0.0054612070576085,Benign,0.3855,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245R,NP_000240:p.Tyr245Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.96315,2.07687,3.3035304750784875,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2331,2.2434,-7.3249,loss_of_function,-2.44120960250031,0.6719391088562393,0.3109849239097404,Benign,0.4384,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245S,NP_000240:p.Tyr245Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.79238,3.58197,4.724936378538163,Destabilizing,Destabilizing,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.2501,2.2434,-22.1976,loss_of_function,-2.63509113264094,0.6480042459113678,0.2650917496428462,Benign,0.2802,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245T,NP_000240:p.Tyr245Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.69014,3.19218,3.9904144643939934,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.201,2.2434,-8.9098,loss_of_function,-2.27951301530383,0.691900709377929,0.4516602593142245,Uncertain,0.5401,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245V,NP_000240:p.Tyr245Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.92334,2.49966,2.6572167910781035,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,96.02,E,-0.169,2.2434,-6.9099,loss_of_function,-1.75125036012118,0.7571152465312075,0.266900638307451,Benign,0.2845,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y245W,NP_000240:p.Tyr245Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24397,0.10714,0.3410029243861268,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,21.5,,True,21.5,,uncertain,,,UP,neutral,neutral,neutral,,,,96.02,E,-0.0659,2.2434,-3.182,loss_of_function,-1.18472504973846,0.8270533455805381,0.0040955710633942,Benign,0.2855,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246A,NP_000240:p.Ile246Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.73771,2.68367,3.736257499346959,Uncertain,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.1516,1.9572,-3.7004,loss_of_function,-1.17160285958485,0.8286732926824378,0.0692840054750761,Benign,0.5406,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246C,NP_000240:p.Ile246Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.87302,3.1602,3.7087435808106126,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.1412,1.9572,-5.588,loss_of_function,-1.92864435770662,0.735215785471814,0.1069186089549165,Benign,0.734,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246D,NP_000240:p.Ile246Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.93469,5.53333,5.2282917446284936,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.37,1.9572,-22.1976,loss_of_function,-3.86190003856844,0.49655349657168674,0.8747856330035488,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246E,NP_000240:p.Ile246Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.8649,4.08299,5.007266937207677,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.2831,1.9572,-8.9098,loss_of_function,-4.07732315172723,0.4699593043096738,0.8951966626483272,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246F,NP_000240:p.Ile246Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.82303,2.84388,2.6484925588570767,Uncertain,Uncertain,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.27,E,-0.1126,1.9572,-3.7004,loss_of_function,-2.07893102008659,0.7166627512354036,0.1365677844852214,Benign,0.3966,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246G,NP_000240:p.Ile246Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.30618,4.95714,5.825950077742235,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.3367,1.9572,-22.1976,loss_of_function,-4.22554574481817,0.45166108142897016,0.8963588175390055,Pathogenic,0.9331,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246H,NP_000240:p.Ile246His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.24439,2.36531,3.915399165907414,Uncertain,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.3366,1.9572,-22.1976,loss_of_function,-3.18632346026947,0.5799540804159674,0.8859135397166797,Pathogenic,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246K,NP_000240:p.Ile246Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.93686,5.52381,6.35922983671665,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.27,E,-0.3435,1.9572,-22.1976,loss_of_function,-4.22554574481817,0.45166108142897016,0.9058180687646908,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246L,NP_000240:p.Ile246Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10399,1.25884,1.3411000914258522,Neutral,Neutral,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,237344,Uncertain significance,2,95.27,E,-0.0481,1.9572,-5.9099,loss_of_function,-1.5131325636605,0.7865111194588,0.1097862737009791,Benign,0.1778,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246M,NP_000240:p.Ile246Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12215,0.42177,2.3833868470195174,Neutral,Uncertain,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.27,E,-0.0572,1.9572,-6.5879,loss_of_function,-1.21392615058841,0.8234484413579648,0.0209520615335203,Benign,0.1973,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246N,NP_000240:p.Ile246Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.9881,2.96327,3.7250975857114113,Uncertain,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.2831,1.9572,-22.1976,loss_of_function,-4.07732315172723,0.4699593043096738,0.91431056913556,Pathogenic,0.9753,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246P,NP_000240:p.Ile246Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.96513,4.01837,7.684900089716537,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.3901,1.9572,-22.1976,loss_of_function,-4.22554574481817,0.45166108142897016,0.9070379205464096,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246Q,NP_000240:p.Ile246Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.91767,2.72449,3.82661275944424,Uncertain,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.2429,1.9572,-8.9098,loss_of_function,-4.07732315172723,0.4699593043096738,0.9163239319271868,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246R,NP_000240:p.Ile246Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.46273,5.04014,5.299009250003568,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.27,E,-0.3703,1.9572,-22.1976,loss_of_function,-4.22554574481817,0.45166108142897016,0.9545044993661576,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246S,NP_000240:p.Ile246Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.81354,3.47993,4.588314188512512,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.27,E,-0.2866,1.9572,-22.1976,loss_of_function,-2.94009637224358,0.6103510532526256,0.5612118392760606,Uncertain,0.8241,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246T,NP_000240:p.Ile246Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.05284,2.58946,3.1945809729008627,Uncertain,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3073836,Uncertain significance,1,95.27,E,-0.1203,1.9572,-5.9099,loss_of_function,-2.21978978971558,0.6992735995033759,0.2115382890870726,Benign,0.669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246V,NP_000240:p.Ile246Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.46993,0.79524,1.195161548166649,Neutral,Neutral,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483594,Uncertain significance,2,95.27,E,0.0113,1.9572,-2.0897,gain_of_function,-0.0722307509075072,0.9643918457984587,0.0003002354099406,Benign,0.0628,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246W,NP_000240:p.Ile246Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",15.153,5.16667,4.698690529224385,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.27,E,-0.2959,1.9572,-22.1976,loss_of_function,-3.18632346026947,0.5799540804159674,0.903960501438154,Pathogenic,0.991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I246Y,NP_000240:p.Ile246Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.25387,4.14796,4.046754917341097,Destabilizing,Destabilizing,False,0.064,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.27,E,-0.3047,1.9572,-22.1976,loss_of_function,-3.16471994306764,0.582621055568154,0.8073752491798663,Pathogenic,0.955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247A,NP_000240:p.Ser247Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31808,-0.25306,-0.5728930526213483,Neutral,Neutral,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,-,uncertain,uncertain,neutral,126985,Conflicting classifications of pathogenicity,1,93.78,E,-0.1861,1.0231,-22.1976,loss_of_function,-2.41829059974201,0.674768481976284,0.6178397792403905,Uncertain,0.5523,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247C,NP_000240:p.Ser247Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.85637,-0.27517,0.1029906148400172,Neutral,Neutral,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,2100795,Uncertain significance,1,93.78,E,-0.2366,1.0231,-22.1976,loss_of_function,-1.98449184847397,0.7283213585691485,0.7196345073725025,Pathogenic,0.5973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247D,NP_000240:p.Ser247Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.49194,2.29626,2.189830123773006,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2848,1.0231,-22.1976,loss_of_function,-4.66623459473819,0.39725761547469424,0.8527710349970946,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247E,NP_000240:p.Ser247Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.38094,4.40544,2.0417323790189976,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.258,1.0231,-22.1976,loss_of_function,-4.46488292907679,0.42211467389501683,0.8787920628137875,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247F,NP_000240:p.Ser247Phe,"hg19,3:g.37055985C>T",,,0.933,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",18.56634,3.27449,1.1135893567647663,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2642,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9669762943221664,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247G,NP_000240:p.Ser247Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.29086,1.82143,1.145118000422813,Neutral,Neutral,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,neutral,neutral,neutral,,,,93.78,E,-0.1953,1.0231,-22.1976,loss_of_function,-3.97822849842511,0.4821926353734188,0.5471388707968889,Uncertain,0.5521,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247H,NP_000240:p.Ser247His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.99136,5.03095,1.3612777167556631,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2654,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9697950214485072,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247I,NP_000240:p.Ser247Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45365,0.83605,-0.0886048151338514,Neutral,Neutral,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2673,1.0231,-22.1976,loss_of_function,-4.40729609851377,0.4292238239824731,0.7702685314155516,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247K,NP_000240:p.Ser247Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.94854,8.52177,3.876345279726051,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2747,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9528892430893292,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247L,NP_000240:p.Ser247Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.78865,0.55272,-0.0332527172040192,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2636,1.0231,-22.1976,loss_of_function,-4.40729609851377,0.4292238239824731,0.7802781514560571,Pathogenic,0.9095,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247M,NP_000240:p.Ser247Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.79816,2.26939,0.1122877044971615,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.1668,1.0231,-8.9098,loss_of_function,-4.40729609851377,0.4292238239824731,0.8846844775337852,Pathogenic,0.946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247N,NP_000240:p.Ser247Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.25145,1.54218,0.7481908274895555,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2084,1.0231,-22.1976,loss_of_function,-4.12868951479184,0.463618076968234,0.8599031552477344,Pathogenic,0.969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247P,NP_000240:p.Ser247Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.59012,4.78197,5.045380476730479,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,90342,Pathogenic,3,93.78,E,-0.3396,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9527372773894568,Pathogenic,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247Q,NP_000240:p.Ser247Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.22641,2.58163,0.9031072199509113,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2281,1.0231,-22.1976,loss_of_function,-4.66623459473819,0.39725761547469424,0.8684575581524475,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247R,NP_000240:p.Ser247Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",18.61682,8.21973,2.66164892834428,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2122,1.0231,-8.9098,loss_of_function,-5.17084801459121,0.3349625993606561,0.9779038478789102,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247T,NP_000240:p.Ser247Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.15267,-0.09354,0.0355243982473968,Neutral,Neutral,False,0.039,,,,,,,,,,0.0,,True,0.0,,neutral,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.0698,1.0231,-1.2375,loss_of_function,-0.295703858982571,0.9368038738562041,0.0005012522889821,Benign,0.0738,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247V,NP_000240:p.Ser247Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.21569,-0.43537,-0.5914640532915322,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2416,1.0231,-22.1976,loss_of_function,-3.92193774784975,0.48914178312930834,0.6417797232180356,Uncertain,0.9521,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247W,NP_000240:p.Ser247Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",37.0263,6.39728,2.903114234773878,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,,,,93.78,E,-0.2739,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9689870733200044,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S247Y,NP_000240:p.Ser247Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",24.9076,4.64082,2.147873109570667,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,neutral,neutral,neutral,1407471,Uncertain significance,2,93.78,E,-0.269,1.0231,-22.1976,loss_of_function,-5.17084801459121,0.3349625993606561,0.9657943837868906,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248A,NP_000240:p.Asn248Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60255,0.97517,0.9592364174084256,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.3,-,-0.2553,0.7981,-22.1976,loss_of_function,-3.65837267511213,0.5216791469950375,0.8991304978877976,Pathogenic,0.6049,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248C,NP_000240:p.Asn248Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.42859,1.02891,1.2059190941808866,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.3,-,-0.3051,0.7981,-22.1976,loss_of_function,-4.69109951407225,0.39418801706599416,0.9710578690975572,Pathogenic,0.5384,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248D,NP_000240:p.Asn248Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.95818,1.98741,0.945253565616993,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1007596,Uncertain significance,1,91.3,-,-0.1907,0.7981,-8.9098,loss_of_function,-2.49439525126344,0.6653732889307609,0.8377676042352513,Pathogenic,0.6063,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248E,NP_000240:p.Asn248Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.7731,2.44558,1.183993600580091,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.2856,0.7981,-22.1976,loss_of_function,-3.44478750935934,0.548046442867123,0.921749615809644,Pathogenic,0.9642,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248F,NP_000240:p.Asn248Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.66254,1.57313,0.4003105576052007,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.3124,0.7981,-22.1976,loss_of_function,-5.96689709354009,0.2366895684628061,0.9650642280970172,Pathogenic,0.9498,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248G,NP_000240:p.Asn248Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23765,1.86837,1.7635604691935658,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.3,-,-0.1966,0.7981,-4.662,loss_of_function,-3.34327575952356,0.5605781668423317,0.5315423217960971,Uncertain,0.4395,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248H,NP_000240:p.Asn248His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.33467,1.62449,0.6122702396994364,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.1873,0.7981,-7.9098,loss_of_function,-4.56034605375147,0.41032965856261094,0.7379865569956967,Pathogenic,0.41,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248I,NP_000240:p.Asn248Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.90024,1.78844,0.6069330458996405,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.3055,0.7981,-22.1976,loss_of_function,-5.56530294789898,0.2862667552552286,0.9587599263328056,Pathogenic,0.8544,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248K,NP_000240:p.Asn248Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77594,1.32279,1.0868060523054663,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.1907,0.7981,-8.9098,loss_of_function,-3.90988123699561,0.4906301710880679,0.4076878144878873,Uncertain,0.9196,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248L,NP_000240:p.Asn248Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.7269,1.67721,0.3026255976797909,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.3119,0.7981,-22.1976,loss_of_function,-4.95109966101827,0.36209074674692054,0.8927065385108726,Pathogenic,0.7015,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248M,NP_000240:p.Asn248Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.92908,1.24388,0.6990889638131953,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.2661,0.7981,-22.1976,loss_of_function,-5.56530294789898,0.2862667552552286,0.9515332294947698,Pathogenic,0.809,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248P,NP_000240:p.Asn248Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.69211,3.97551,3.271235016660928,Destabilizing,Destabilizing,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.3,-,-0.3531,0.7981,-8.9098,loss_of_function,-5.50372549141531,0.29386855198316536,0.9022991272270042,Pathogenic,0.9389,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248Q,NP_000240:p.Asn248Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.04539,1.80748,1.0231220284110805,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.1733,0.7981,-7.3249,loss_of_function,-2.8450430194117,0.6220854818535932,0.5375406049908641,Uncertain,0.8782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248R,NP_000240:p.Asn248Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.50332,1.41361,0.6911126708700988,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.2906,0.7981,-22.1976,loss_of_function,-4.0830788169407,0.46924876185655273,0.8801473098322752,Pathogenic,0.9008,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248S,NP_000240:p.Asn248Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.1621,0.96463,1.1912970792928526,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,142890,Uncertain significance,2,91.3,-,-0.134,0.7981,-4.3249,loss_of_function,-2.99168919247474,0.6039818695543306,0.0969877391627709,Benign,0.0886,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248T,NP_000240:p.Asn248Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.96441,2.73095,0.98106979326129,Uncertain,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.3,-,-0.1916,0.7981,-5.9099,loss_of_function,-3.34784596935284,0.5600139700061825,0.6345840429086631,Uncertain,0.2994,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248V,NP_000240:p.Asn248Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.11628,1.56327,0.643262515293983,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.2989,0.7981,-22.1976,loss_of_function,-5.29530862873395,0.3195978158282575,0.9527267121238392,Pathogenic,0.744,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248W,NP_000240:p.Asn248Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.57085,2.26837,0.3876642511562916,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.3175,0.7981,-22.1976,loss_of_function,-5.96689709354009,0.2366895684628061,0.989885211486515,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N248Y,NP_000240:p.Asn248Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.62657,1.42143,0.6163914253742833,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,22.0,,True,22.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.3,-,-0.296,0.7981,-22.1976,loss_of_function,-5.96689709354009,0.2366895684628061,0.963169758631326,Pathogenic,0.7543,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249C,NP_000240:p.Ala249Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.3459,1.47313,0.5264004390993227,Neutral,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.22,1.3083,-22.1976,loss_of_function,-2.70667606733946,0.6391670162913835,0.858478729067996,Pathogenic,0.7917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249D,NP_000240:p.Ala249Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.58799,4.38469,0.8118694556604852,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2339,1.3083,-8.9098,loss_of_function,-4.66137586811559,0.39785742998881624,0.896793675502281,Pathogenic,0.9924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249E,NP_000240:p.Ala249Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.28753,6.30442,0.6385965257998774,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2874,1.3083,-22.1976,loss_of_function,-4.66137586811559,0.39785742998881624,0.8366850253180522,Pathogenic,0.9851,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249F,NP_000240:p.Ala249Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.33871,2.45408,-0.674451386744081,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2023,1.3083,-8.9098,loss_of_function,-3.71221286496564,0.5150325233371011,0.8362691512653252,Pathogenic,0.932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249G,NP_000240:p.Ala249Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37517,2.20238,1.3636944344522897,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.37,T,-0.1406,1.3083,-7.9098,loss_of_function,-3.72460861064406,0.5135022565102545,0.2697084178083431,Benign,0.5866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249H,NP_000240:p.Ala249His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.29542,4.14388,-0.1538813631353897,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2742,1.3083,-22.1976,loss_of_function,-4.85651066238683,0.37376785037145865,0.9023929340794784,Pathogenic,0.9842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249I,NP_000240:p.Ala249Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.17146,5.8398,-0.5490091404361624,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2596,1.3083,-22.1976,loss_of_function,-3.48119107544409,0.5435523873255196,0.8433365746460857,Pathogenic,0.6932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249K,NP_000240:p.Ala249Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.19473,6.2881,0.7110258051518475,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.292,1.3083,-22.1976,loss_of_function,-4.25254068901466,0.4483285293850556,0.926934171732958,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249L,NP_000240:p.Ala249Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.72077,6.1432,-0.753229820404932,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.1822,1.3083,-6.1025,loss_of_function,-2.72475932718209,0.636934620324548,0.5373336107897015,Uncertain,0.6443,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249M,NP_000240:p.Ala249Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63554,6.54184,-0.3890509131473052,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.1553,1.3083,-8.9098,loss_of_function,-3.62972175168937,0.5252161312805976,0.8600802629549853,Pathogenic,0.7691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249N,NP_000240:p.Ala249Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.86403,3.24048,0.1582413096619528,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2721,1.3083,-22.1976,loss_of_function,-4.66137586811559,0.39785742998881624,0.8267222225489509,Pathogenic,0.9536,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249P,NP_000240:p.Ala249Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-2.23227,2.81735,2.8517010018816267,Uncertain,Uncertain,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1419691,Uncertain significance,1,88.37,T,-0.2475,1.3083,-3.7806,loss_of_function,-2.17387112544794,0.7049423031445136,0.0673599823416014,Benign,0.5551,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249Q,NP_000240:p.Ala249Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.50492,4.36905,0.1108316962311695,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2018,1.3083,-8.9098,loss_of_function,-3.82772315142533,0.5007726664382508,0.7806920091850221,Pathogenic,0.962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249R,NP_000240:p.Ala249Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88775,5.30068,0.0016438258748274,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.3027,1.3083,-22.1976,loss_of_function,-4.26808384314333,0.4464097119323004,0.8841839213785279,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249S,NP_000240:p.Ala249Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85548,1.45204,0.5477887350752794,Neutral,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.37,T,-0.1016,1.3083,-5.9099,loss_of_function,-2.1538585350505,0.7074128768396312,0.2645939718149738,Benign,0.3006,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249T,NP_000240:p.Ala249Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.32217,1.54184,0.0116721684819337,Neutral,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,229680,Uncertain significance,1,88.37,T,-0.104,1.3083,-5.2094,loss_of_function,-1.91780810998565,0.7365535307632296,0.278689200275216,Benign,0.3928,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249V,NP_000240:p.Ala249Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.92382,1.53197,-0.5346732150180789,Neutral,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1759052,Uncertain significance,1,88.37,T,-0.0924,1.3083,-3.5176,loss_of_function,-2.10154947839298,0.7138704806194504,0.0035197709154028,Benign,0.3359,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249W,NP_000240:p.Ala249Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.78336,4.72585,-0.8535992683502708,Uncertain,Uncertain,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.281,1.3083,-22.1976,loss_of_function,-4.85651066238683,0.37376785037145865,0.9658138195795272,Pathogenic,0.9928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A249Y,NP_000240:p.Ala249Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.79449,2.58333,-0.381399303356929,Uncertain,Neutral,False,0.027,,,,,,,,,,13.9,,False,13.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.37,T,-0.2893,1.3083,-22.1976,loss_of_function,-4.85651066238683,0.37376785037145865,0.9577300109344244,Pathogenic,0.9789,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250A,NP_000240:p.Asn250Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.5189,0.73844,0.6135177149862999,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,85.99,T,-0.2857,0.4674,-22.2006,loss_of_function,-3.78759417144924,0.5057266279380828,0.8931223003981485,Pathogenic,0.692,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250C,NP_000240:p.Asn250Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.87435,0.2449,1.0686625256428408,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,85.99,T,-0.3356,0.4674,-22.2006,loss_of_function,-4.37270264339586,0.4334944195695627,0.9796176067721954,Pathogenic,0.7422,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250D,NP_000240:p.Asn250Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.0427,1.08061,0.8367692089061187,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,650377,Uncertain significance,2,85.99,T,-0.2058,0.4674,-5.9129,loss_of_function,-1.98531186787533,0.7282201263786998,0.3934857083578983,Uncertain,0.8148,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250E,NP_000240:p.Asn250Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.72818,1.15782,0.594263136490952,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.316,0.4674,-22.2006,loss_of_function,-3.08156563944663,0.5928865350029483,0.8380426843811907,Pathogenic,0.9805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250F,NP_000240:p.Asn250Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28288,-0.07347,-0.3236431682932006,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.3428,0.4674,-22.2006,loss_of_function,-5.88941100353427,0.24625530142910798,0.9182783371298856,Pathogenic,0.9632,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250G,NP_000240:p.Asn250Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94428,1.25408,1.114565743440609,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,85.99,T,-0.2487,0.4674,-8.9128,loss_of_function,-5.19496295477485,0.3319855866054931,0.8609563813041596,Pathogenic,0.6676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250H,NP_000240:p.Asn250His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.96656,0.88639,-0.037984980569119,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,186639,Uncertain significance,2,85.99,T,-0.2148,0.4674,-7.3279,loss_of_function,-5.02303273103183,0.3532105394846321,0.9112918921405532,Pathogenic,0.6274,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250I,NP_000240:p.Asn250Ile,"hg19,3:g.37055994A>T",,,0.866,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.38531,-0.67925,0.0892234956749421,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.2631,0.4674,-7.9128,loss_of_function,-4.54009157270668,0.4128300938927577,0.9524658761548626,Pathogenic,0.8541,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250K,NP_000240:p.Asn250Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31956,-0.07313,0.2963173252834744,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.2211,0.4674,-8.9128,loss_of_function,-4.95695820152222,0.3613675042394092,0.842323053029421,Pathogenic,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250L,NP_000240:p.Asn250Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.00341,-1.46361,-0.4292132731295539,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.3424,0.4674,-22.2006,loss_of_function,-5.13232419059077,0.3397184027984259,0.949848480487868,Pathogenic,0.7477,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250M,NP_000240:p.Asn250Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02563,-0.34082,0.0459133437967596,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.2966,0.4674,-22.2006,loss_of_function,-5.32497506085873,0.3159354660084737,0.9745404710402784,Pathogenic,0.8945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250P,NP_000240:p.Asn250Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7864,1.5483,4.110702353370519,Neutral,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.99,T,-0.4513,0.4674,-22.2006,loss_of_function,-6.62126256575341,0.15590751623781324,0.9869923994324654,Pathogenic,0.9715,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250Q,NP_000240:p.Asn250Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03884,-0.05034,0.4762469708381528,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.2797,0.4674,-22.2006,loss_of_function,-2.64105618077046,0.6472678549341765,0.9423932949447468,Pathogenic,0.9359,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250R,NP_000240:p.Asn250Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32253,-0.12211,0.0011139657106307,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.2533,0.4674,-8.9128,loss_of_function,-5.27408844754008,0.32221746777845717,0.9183566913437486,Pathogenic,0.9484,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250S,NP_000240:p.Asn250Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.82747,0.36871,0.8477105547062238,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,85.99,T,-0.1695,0.4674,-5.3279,loss_of_function,-3.30713016195078,0.5650403759209245,0.3389313336600807,Uncertain,0.1376,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250T,NP_000240:p.Asn250Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.04225,-0.58401,0.553426499733744,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.99,T,-0.2374,0.4674,-8.9128,loss_of_function,-3.72947085412824,0.5129020078361594,0.856517467279887,Pathogenic,0.5732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250V,NP_000240:p.Asn250Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7463,-0.64864,0.276247601379424,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.3293,0.4674,-22.2006,loss_of_function,-4.86927430993153,0.37219216570238545,0.9585160235065348,Pathogenic,0.733,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250W,NP_000240:p.Asn250Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58458,0.63027,-0.5410757250643333,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.99,T,-0.348,0.4674,-22.2006,loss_of_function,-5.88941100353427,0.24625530142910798,0.9924175601085256,Pathogenic,0.9924,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N250Y,NP_000240:p.Asn250Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.49949,-0.41463,-0.2350560494543735,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,68.7,,False,68.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,560785,Uncertain significance,1,85.99,T,-0.3264,0.4674,-22.2006,loss_of_function,-5.46834212165717,0.298236663298743,0.958955033350753,Pathogenic,0.7775,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251A,NP_000240:p.Tyr251Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.72013,2.10306,3.127752201787098,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3096,0.8094,-8.9128,loss_of_function,-3.85448238729614,0.4974692128157589,0.9105503610908684,Pathogenic,0.934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251C,NP_000240:p.Tyr251Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.57679,2.15884,3.470960429266337,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,233140,Uncertain significance,2,88.07,-,-0.27,0.8094,-6.9129,loss_of_function,-2.71310840957448,0.6383729374036317,0.0730041536253237,Benign,0.4276,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251D,NP_000240:p.Tyr251Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.00249,3.90374,4.1108895128113785,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3916,0.8094,-22.2006,loss_of_function,-5.29132553225634,0.3200895329516918,0.9219245569724784,Pathogenic,0.9697,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251E,NP_000240:p.Tyr251Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.47234,3.73061,3.503130893489085,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4203,0.8094,-22.2006,loss_of_function,-5.29132553225634,0.3200895329516918,0.9196044398008478,Pathogenic,0.9932,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251F,NP_000240:p.Tyr251Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.62941,-0.18605,0.1108568564673601,Neutral,Neutral,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,88.07,-,-0.1205,0.8094,-3.7034,loss_of_function,-1.82837339745705,0.747594332769142,0.0100304567876274,Benign,0.1267,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251G,NP_000240:p.Tyr251Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.80091,3.66701,5.071001858460083,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4479,0.8094,-22.2006,loss_of_function,-6.19104045305426,0.20901885333030545,0.935393655393154,Pathogenic,0.9075,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251H,NP_000240:p.Tyr251His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.0889,1.50816,1.955588459785669,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,2120609,Uncertain significance,1,88.07,-,-0.2041,0.8094,-6.3279,loss_of_function,-2.47893200857909,0.6672822412382073,0.5487109474043186,Uncertain,0.7251,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251I,NP_000240:p.Tyr251Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.94847,1.73503,1.9480197943709705,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3894,0.8094,-22.2006,loss_of_function,-4.46880993460994,0.4216298812530797,0.8602445398757403,Pathogenic,0.9205,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251K,NP_000240:p.Tyr251Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.37643,2.56327,3.723969148523513,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4456,0.8094,-22.2006,loss_of_function,-4.2721563542669,0.4459069564840975,0.9194205304936476,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251L,NP_000240:p.Tyr251Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56149,1.57415,1.4445234939280438,Neutral,Neutral,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.2936,0.8094,-7.9128,loss_of_function,-4.05995179884235,0.4721038146720843,0.6838950303045522,Pathogenic,0.8556,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251M,NP_000240:p.Tyr251Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41534,1.14864,1.7745199236535292,Neutral,Neutral,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3186,0.8094,-22.2006,loss_of_function,-4.44840449962727,0.4241489519932705,0.9284733937619084,Pathogenic,0.9373,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251N,NP_000240:p.Tyr251Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.79367,2.56939,3.323474932968904,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3706,0.8094,-22.2006,loss_of_function,-4.81469533405698,0.3789299932111805,0.9158520669766602,Pathogenic,0.8288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251P,NP_000240:p.Tyr251Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.78559,7.82075,7.836035849433641,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4338,0.8094,-8.9128,loss_of_function,-5.78181821726583,0.2595377352500297,0.9710129766301732,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251Q,NP_000240:p.Tyr251Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.79534,2.4415,2.949313454115905,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3951,0.8094,-22.2006,loss_of_function,-3.88947355849042,0.4931495187932899,0.84463685473619,Pathogenic,0.9762,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251R,NP_000240:p.Tyr251Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.47882,2.72925,2.844191325033679,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4409,0.8094,-22.2006,loss_of_function,-4.13262107874567,0.4631327215848426,0.9812690472629604,Pathogenic,0.9731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251S,NP_000240:p.Tyr251Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.61319,2.77789,4.05725324533047,Uncertain,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.3041,0.8094,-6.9129,loss_of_function,-3.37621479928081,0.5565118104361615,0.891201628948656,Pathogenic,0.7736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251T,NP_000240:p.Tyr251Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.78765,2.36701,3.329885880668765,Uncertain,Destabilizing,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.4007,0.8094,-22.2006,loss_of_function,-4.19499474914643,0.45543263147657953,0.8183889923608731,Pathogenic,0.9269,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251V,NP_000240:p.Tyr251Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.45842,1.95986,2.363279845851131,Uncertain,Uncertain,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.07,-,-0.379,0.8094,-22.2006,loss_of_function,-3.9784372802294,0.48216686105717815,0.7841941675796134,Pathogenic,0.8309,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y251W,NP_000240:p.Tyr251Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.60265,1.1017,0.4650247477839164,Neutral,Neutral,False,0.031,,,,,,,,,,12.9,,False,12.9,,uncertain,,,UP,neutral,neutral,neutral,,,,88.07,-,-0.2128,0.8094,-6.1055,loss_of_function,-2.31247347086162,0.6878317091704104,0.8375211623896252,Pathogenic,0.743,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252A,NP_000240:p.Ser252Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0996,-0.54184,-0.3039984727436517,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,-,uncertain,uncertain,neutral,,,,87.74,-,-0.028,1.8493,-6.1055,loss_of_function,-1.66053589428197,0.7683140353245693,0.110489659324286,Benign,0.125,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252C,NP_000240:p.Ser252Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2038,-0.14558,0.2151470494731894,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1606,1.8493,-22.2006,loss_of_function,-2.33568998250007,0.6849656082905523,0.8829901169272858,Pathogenic,0.15,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252D,NP_000240:p.Ser252Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.84169,1.23707,0.3970966976785761,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.2088,1.8493,-22.2006,loss_of_function,-3.05238594794218,0.5964887962210543,0.8157530632835241,Pathogenic,0.9634,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252E,NP_000240:p.Ser252Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38175,1.33095,0.0734191982278248,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.182,1.8493,-22.2006,loss_of_function,-2.98798053621682,0.6044397067664599,0.6711702964718677,Uncertain,0.9812,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252F,NP_000240:p.Ser252Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34403,-1.58435,-0.9651026904401376,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1204,1.8493,-8.9128,loss_of_function,-1.90367379143363,0.7382984260975937,0.9270141073218104,Pathogenic,0.5097,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252G,NP_000240:p.Ser252Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.0168,1.16735,0.9584673979690176,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,87.74,-,-0.0413,1.8493,-6.9129,loss_of_function,-3.31155559693079,0.5644940516803372,0.6922972379549035,Pathogenic,0.1574,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252H,NP_000240:p.Ser252His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57301,-0.45578,-0.6206062048754346,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.0927,1.8493,-3.2405,loss_of_function,-2.03729856975698,0.7218023176086192,0.0912184393594655,Benign,0.7499,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252I,NP_000240:p.Ser252Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.25081,-0.20918,-0.6712568480705017,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1913,1.8493,-22.2006,loss_of_function,-2.48358322583942,0.6667080439561245,0.5452855995207867,Uncertain,0.5045,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252K,NP_000240:p.Ser252Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.95405,0.98333,-0.0795191414108015,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1987,1.8493,-22.2006,loss_of_function,-3.46838494748516,0.5451333162429319,0.919729232971993,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252L,NP_000240:p.Ser252Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.75838,0.19286,-0.8242390499953922,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,405436,Uncertain significance,2,87.74,-,-0.1198,1.8493,-8.9128,loss_of_function,-3.06503719422184,0.5949269875971702,0.8155989758383733,Pathogenic,0.2599,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252M,NP_000240:p.Ser252Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.13857,0.09626,-0.48259850594913,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1586,1.8493,-22.2006,loss_of_function,-3.02981053240114,0.5992757531658773,0.8849522330833532,Pathogenic,0.3822,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252N,NP_000240:p.Ser252Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56766,0.27517,0.0181406651022009,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.0369,1.8493,-3.4866,loss_of_function,-1.1755431673584,0.8281868578660212,0.0173719428043118,Benign,0.3549,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252P,NP_000240:p.Ser252Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.58615,0.29218,1.3034432703374546,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,234855,Uncertain significance,2,87.74,-,-0.2636,1.8493,-22.2006,loss_of_function,-4.74988655411639,0.3869306999539899,0.905524691988936,Pathogenic,0.8993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252Q,NP_000240:p.Ser252Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03787,0.34796,-0.0556655293629154,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.0583,1.8493,-3.8254,loss_of_function,-2.35501779427264,0.6825795711808534,0.5755657698019792,Uncertain,0.903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252R,NP_000240:p.Ser252Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.03122,0.4415,-0.5122954139036623,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.204,1.8493,-22.2006,loss_of_function,-3.55176290519229,0.5348402264942801,0.8398345994181726,Pathogenic,0.9849,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252T,NP_000240:p.Ser252Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.46587,0.21361,-0.1567393485410195,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,neutral,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.0096,1.8493,-4.3279,loss_of_function,-1.49820803059934,0.78835356754076,0.2369150016519585,Benign,0.1659,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252V,NP_000240:p.Ser252Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.06852,-0.20442,-0.682763375583289,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.0846,1.8493,-6.3279,loss_of_function,-2.43911847272598,0.6721972608551028,0.8100816169014304,Pathogenic,0.4164,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252W,NP_000240:p.Ser252Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32866,-1.65918,-1.1071768446523893,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1301,1.8493,-8.9128,loss_of_function,-3.63314315552467,0.5247937556586517,0.9749493427112416,Pathogenic,0.8053,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S252Y,NP_000240:p.Ser252Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.30508,-1.62449,-0.8526246893446698,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,30.2,,False,30.2,,uncertain,,,UP,neutral,neutral,neutral,,,,87.74,-,-0.1252,1.8493,-8.9128,loss_of_function,-2.78075561862722,0.6300218238338864,0.6488703885504565,Uncertain,0.573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253A,NP_000240:p.Val253Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.95995,2.39184,0.8153488254777066,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1444096,Uncertain significance,1,90.94,B,0.007,2.8255,-3.0302,gain_of_function,-1.13466835636188,0.8332328929287196,0.0026009805169294,Benign,0.2546,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253C,NP_000240:p.Val253Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28282,1.68401,0.9795088771560956,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.0428,2.8255,-7.3279,loss_of_function,-2.02981400782072,0.7227262940390551,0.0422129903707551,Benign,0.7749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253D,NP_000240:p.Val253Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.68016,2.04422,1.3559545540800344,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.1896,2.8255,-8.9128,loss_of_function,-2.04254220607032,0.7211549856198449,0.3731536966268072,Uncertain,0.8922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253E,NP_000240:p.Val253Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88851,2.37585,1.2413434945273116,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.94,B,-0.1469,2.8255,-8.9128,loss_of_function,-2.41228982901909,0.6755092829422785,0.2916535317333062,Benign,0.8065,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253F,NP_000240:p.Val253Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.69737,1.9398,0.1537923337251778,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.095,2.8255,-7.9128,loss_of_function,-2.96521426433665,0.6072502251114632,0.3140060622025269,Benign,0.2379,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253G,NP_000240:p.Val253Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.42183,3.33435,1.6805316364891425,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.1267,2.8255,-4.591,loss_of_function,-1.86539353097218,0.7430241613802387,0.0464521918141918,Benign,0.2774,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253H,NP_000240:p.Val253His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2632,2.20408,0.3144268845666764,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.1737,2.8255,-5.2124,loss_of_function,-2.09913991169572,0.714167943965307,0.0386906327576483,Benign,0.8342,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253I,NP_000240:p.Val253Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.36065,0.78061,0.0516431537544914,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,0.0646,2.8255,-4.3893,gain_of_function,-1.16491567928796,0.8294988315760994,0.0064881220467836,Benign,0.0956,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253K,NP_000240:p.Val253Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41236,2.50374,0.8295895955815199,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.2537,2.8255,-22.2006,loss_of_function,-3.03001375861482,0.5992506646926858,0.4732924271063643,Uncertain,0.8739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253L,NP_000240:p.Val253Leu,"hg19,3:g.37056002G>T",,,0.472,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.40206,0.37823,-0.1076533235094145,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.0037,2.8255,-5.006,loss_of_function,-1.50471955081977,0.7875497140539132,0.0098497522547804,Benign,0.2358,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253M,NP_000240:p.Val253Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41631,0.68673,0.2420070762797005,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.0067,2.8255,-3.8254,loss_of_function,-0.278557309942149,0.9389206319659752,0.0008543434794883,Benign,0.1051,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253N,NP_000240:p.Val253Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.27683,2.16224,0.6560885009846268,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.1532,2.8255,-4.158,loss_of_function,-1.68981594214522,0.764699385016632,0.0149460320372542,Benign,0.4426,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253P,NP_000240:p.Val253Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.32432,4.62279,3.9263030844425937,Destabilizing,Destabilizing,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.2222,2.8255,-7.9128,loss_of_function,-3.33934552602754,0.5610633579794161,0.2295982737414528,Benign,0.9288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253Q,NP_000240:p.Val253Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54702,2.35068,0.7886721462956986,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.94,B,-0.1524,2.8255,-7.9128,loss_of_function,-2.18949632915179,0.703013356592121,0.1549818958613636,Benign,0.5743,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253R,NP_000240:p.Val253Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39504,2.19796,0.2140194843785497,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.2747,2.8255,-22.2006,loss_of_function,-2.87965013010422,0.6178132004725733,0.2764672972182449,Benign,0.8293,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253S,NP_000240:p.Val253Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41342,2.83673,0.9541049669435804,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.1014,2.8255,-3.9587,loss_of_function,-1.61461574740823,0.773982921994868,0.0075675812360612,Benign,0.2343,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253T,NP_000240:p.Val253Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.08636,1.04456,0.6262347391580305,Neutral,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.94,B,-0.0167,2.8255,-3.9587,loss_of_function,-0.95716787618275,0.8551454993675834,0.0009254451739132,Benign,0.2559,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253W,NP_000240:p.Val253Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45706,2.18333,-0.0646331225078589,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.2085,2.8255,-22.2006,loss_of_function,-3.50351347521162,0.5407966654233408,0.7139851209261607,Pathogenic,0.9366,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V253Y,NP_000240:p.Val253Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47608,4.69286,0.1794657461863441,Uncertain,Neutral,False,0.128,,,,,,,Uncertain,Uncertain,Uncertain,38.1,,False,38.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.94,B,-0.1355,2.8255,-7.3279,loss_of_function,-2.62660400272713,0.6490519903310401,0.0731214052186374,Benign,0.7882,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254A,NP_000240:p.Lys254Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09192,0.16224,-0.3297770381127646,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.2219,0.299,-7.9128,loss_of_function,-3.36731362032214,0.5576106696120149,0.8776505665129627,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254C,NP_000240:p.Lys254Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.40669,0.87381,0.5280493010949006,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.365,0.299,-22.2006,loss_of_function,-4.77923411919476,0.38330771458036006,0.9893664780913364,Pathogenic,0.9887,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254D,NP_000240:p.Lys254Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27658,-0.12381,-0.5093212137791137,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.4038,0.299,-22.2006,loss_of_function,-5.81406797730576,0.25555647109350665,0.9639411736725908,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254E,NP_000240:p.Lys254Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16443,-0.1949,-0.6242311176073589,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3197,0.299,-22.2006,loss_of_function,-5.81406797730576,0.25555647109350665,0.9705178580580364,Pathogenic,0.9893,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254F,NP_000240:p.Lys254Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24169,0.33265,-0.5545093138868118,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.46,S,-0.3659,0.299,-22.2006,loss_of_function,-6.77815381402121,0.13653913946764942,0.9943882211449466,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254G,NP_000240:p.Lys254Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14387,0.64524,0.1745510152897067,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.354,0.299,-22.2006,loss_of_function,-5.29191810608952,0.3200163791372382,0.8701117207561269,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254H,NP_000240:p.Lys254His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28691,0.02109,-0.6738299650629287,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3049,0.299,-22.2006,loss_of_function,-6.77815381402121,0.13653913946764942,0.9256430409613264,Pathogenic,0.9235,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254I,NP_000240:p.Lys254Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2336,0.66395,-0.3830924819295761,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.46,S,-0.3331,0.299,-22.2006,loss_of_function,-6.54228969142027,0.16565679417138035,0.980885626453514,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254L,NP_000240:p.Lys254Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.1665,0.13163,-0.8305856549084906,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.46,S,-0.264,0.299,-8.9128,loss_of_function,-6.27807580590716,0.19827425460353826,0.980464372849818,Pathogenic,0.9848,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254M,NP_000240:p.Lys254Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01625,0.27823,-0.4792232099080151,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3049,0.299,-22.2006,loss_of_function,-6.54228969142027,0.16565679417138035,0.9887444485413186,Pathogenic,0.9867,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254N,NP_000240:p.Lys254Asn,"hg19,3:g.37056007G>C, hg19,3:g.37056007G>T, hg38,3:g.37014516G>C",,,0.741,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.13225,0.03163,-0.3987898598011491,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,861997,Uncertain significance,1,88.46,S,-0.313,0.299,-22.2006,loss_of_function,-4.85034581362368,0.37452890693066165,0.9321418239710086,Pathogenic,0.9914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254P,NP_000240:p.Lys254Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.96632,-0.43605,-0.1256431473235647,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3962,0.299,-7.9128,loss_of_function,-3.74256952070077,0.5112849647431599,0.7136970985925234,Pathogenic,0.9669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254Q,NP_000240:p.Lys254Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.11081,0.0983,-0.2737102515293527,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,650758,Uncertain significance,2,88.46,S,-0.2262,0.299,-8.9128,loss_of_function,-5.67658055286181,0.27252942699251576,0.9632941861012788,Pathogenic,0.8288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254R,NP_000240:p.Lys254Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.42029,0.40272,-0.4319536107958727,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,185876,Uncertain significance,2,88.46,S,-0.1417,0.299,-5.2124,loss_of_function,-2.26448640998962,0.6937557583785297,0.1257063843517352,Benign,0.0935,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254S,NP_000240:p.Lys254Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.20761,-0.2119,-0.4217261188634813,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3049,0.299,-22.2006,loss_of_function,-3.8820847716559,0.4940616716945221,0.7994932097166993,Pathogenic,0.9865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254T,NP_000240:p.Lys254Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46976,0.15816,-0.1398480187193479,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.3168,0.299,-22.2006,loss_of_function,-4.48244074903337,0.4199471439917473,0.9247041263824451,Pathogenic,0.9828,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254V,NP_000240:p.Lys254Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42749,0.54966,-0.1077277138359406,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.46,S,-0.317,0.299,-22.2006,loss_of_function,-6.54228969142027,0.16565679417138035,0.97431963556725,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254W,NP_000240:p.Lys254Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.0559,0.3551,-1.1030883411676522,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.46,S,-0.3749,0.299,-22.2006,loss_of_function,-6.77815381402121,0.13653913946764942,0.9932708709555362,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K254Y,NP_000240:p.Lys254Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.13295,0.11531,-0.5469867092329089,Neutral,Neutral,False,0.152,,,,,,,Uncertain,Uncertain,Uncertain,100.8,,False,100.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.46,S,-0.3508,0.299,-22.2006,loss_of_function,-6.77815381402121,0.13653913946764942,0.9876556422996812,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255A,NP_000240:p.Lys255Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57106,0.11565,0.3643268976654823,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2512,0.7729,-22.2006,loss_of_function,-3.85660386890938,0.49720731385294314,0.9156594603638032,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255C,NP_000240:p.Lys255Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.33639,0.53299,0.8922849433424354,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.3214,0.7729,-22.2006,loss_of_function,-4.46878920366668,0.4216324405081324,0.9727800645286424,Pathogenic,0.9626,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255D,NP_000240:p.Lys255Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.3585,0.36497,0.3541997473290964,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.3602,0.7729,-22.2006,loss_of_function,-4.26701854479741,0.44654122404635527,0.872541407303087,Pathogenic,0.9846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255E,NP_000240:p.Lys255Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41961,-0.02653,0.1550593104430231,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2761,0.7729,-22.2006,loss_of_function,-3.01180079188031,0.6014990731011289,0.942103423968838,Pathogenic,0.9663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255F,NP_000240:p.Lys255Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.62663,-0.80646,-0.0075538630540972,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,89.11,S,-0.3223,0.7729,-22.2006,loss_of_function,-4.03886319687656,0.47470722303895674,0.966420276880476,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255G,NP_000240:p.Lys255Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.9781,1.18299,1.0779783916814891,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2426,0.7729,-8.9128,loss_of_function,-3.96086058724729,0.4843367208537546,0.8977468772543535,Pathogenic,0.9436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255H,NP_000240:p.Lys255His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.36863,-0.40442,0.1223092740928477,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2613,0.7729,-22.2006,loss_of_function,-4.64894297853511,0.3993922822663986,0.9211216287211847,Pathogenic,0.7067,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255I,NP_000240:p.Lys255Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.35091,0.02143,-0.3541310406175163,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.11,S,-0.2217,0.7729,-8.9128,loss_of_function,-4.19245158859835,0.4557465871128949,0.9281302201262523,Pathogenic,0.9767,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255L,NP_000240:p.Lys255Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.191,0.10034,-0.3966041422380306,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.11,S,-0.2882,0.7729,-22.2006,loss_of_function,-4.92466670242427,0.36535392112312826,0.9404344856206468,Pathogenic,0.9637,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255M,NP_000240:p.Lys255Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.09579,0.46429,0.1101189726175572,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2613,0.7729,-22.2006,loss_of_function,-4.93535991523177,0.3640338336305124,0.9709342059975868,Pathogenic,0.9574,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255N,NP_000240:p.Lys255Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54466,0.37347,0.4173341718343548,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.1965,0.7729,-7.9128,loss_of_function,-3.13492992853886,0.5862986617555763,0.5773476543409463,Uncertain,0.9521,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255P,NP_000240:p.Lys255Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.89848,4.2415,2.8963350557778846,Uncertain,Uncertain,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.3577,0.7729,-8.9128,loss_of_function,-5.07379293058141,0.34694414361705117,0.921542048170866,Pathogenic,0.9834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255Q,NP_000240:p.Lys255Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.25121,0.08707,0.386794472302725,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,568774,Uncertain significance,2,89.11,S,-0.1826,0.7729,-8.9128,loss_of_function,-2.93662364171847,0.6107797652042113,0.7165108903596965,Pathogenic,0.6691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255R,NP_000240:p.Lys255Arg,"hg19,3:g.37056009A>G",,,0.602,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.16451,-0.19048,-0.0461821809726059,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.11,S,-0.0854,0.7729,-2.7231,loss_of_function,-0.656646779604879,0.8922451202206709,0.006461306260692,Benign,0.0692,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255S,NP_000240:p.Lys255Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48567,-0.10782,0.5409951683181824,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2613,0.7729,-22.2006,loss_of_function,-3.35656278990702,0.5589378700541756,0.6757099684859535,Uncertain,0.9636,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255T,NP_000240:p.Lys255Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.15884,0.06088,0.2118421211938104,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2003,0.7729,-7.9128,loss_of_function,-3.40447106489965,0.5530235470392805,0.4759307899856888,Uncertain,0.9297,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255V,NP_000240:p.Lys255Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21651,0.00068,-0.1917438326996806,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.11,S,-0.2734,0.7729,-22.2006,loss_of_function,-4.93535991523177,0.3640338336305124,0.9416670718249792,Pathogenic,0.9601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255W,NP_000240:p.Lys255Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16549,-0.61463,-0.2779230722284498,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,89.11,S,-0.3313,0.7729,-22.2006,loss_of_function,-4.96818840292992,0.3599811249832644,0.9904628807266972,Pathogenic,0.9745,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K255Y,NP_000240:p.Lys255Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63282,-0.87925,0.1261056736336424,Neutral,Neutral,True,0.206,,,,,,,Uncertain,Uncertain,Uncertain,87.5,,False,87.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,89.11,S,-0.3072,0.7729,-22.2006,loss_of_function,-4.96818840292992,0.3599811249832644,0.962086142315207,Pathogenic,0.9539,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256A,NP_000240:p.Cys256Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42928,0.13333,0.4588524611515165,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.79,-,-0.1615,2.6919,-5.9129,loss_of_function,-1.76432632982069,0.7555010053891964,0.051058235097694,Benign,0.3871,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256D,NP_000240:p.Cys256Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.15331,2.1466,1.1426923724658316,Uncertain,Uncertain,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.79,-,-0.3519,2.6919,-22.2006,loss_of_function,-3.75821622520842,0.5093533638956843,0.3499705965806907,Uncertain,0.9216,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256E,NP_000240:p.Cys256Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.74304,1.66667,0.943791492571189,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2717,2.6919,-8.9128,loss_of_function,-3.49925534525605,0.541322335696389,0.2324893895731136,Benign,0.96,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256F,NP_000240:p.Cys256Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.32494,2.26395,0.2650295520736684,Uncertain,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,644983,Uncertain significance,1,90.79,-,-0.1484,2.6919,-4.5206,loss_of_function,-1.6668609006875,0.7675332071490748,0.0035183856225391,Benign,0.2425,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256G,NP_000240:p.Cys256Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.44623,1.55102,1.6298377918668074,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1760073,Uncertain significance,1,90.79,-,-0.1438,2.6919,-3.9129,loss_of_function,-1.96965766920328,0.7301526523880393,0.0025116780313905,Benign,0.1225,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256H,NP_000240:p.Cys256His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11765,0.82483,0.4680973558555257,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2825,2.6919,-8.9128,loss_of_function,-2.65033374845899,0.6461225302045558,0.1205787578027445,Benign,0.787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256I,NP_000240:p.Cys256Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.27097,-0.6881,-0.4214943470627563,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.1905,2.6919,-6.9129,loss_of_function,-2.13339709662517,0.709938861259137,0.0476907861164806,Benign,0.659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256K,NP_000240:p.Cys256Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.91841,3.6415,1.054648639491194,Uncertain,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.3401,2.6919,-22.2006,loss_of_function,-2.51582063557289,0.6627283044569128,0.2702744174501533,Benign,0.967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256L,NP_000240:p.Cys256Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-2.51695,0.22143,-0.5794098427595418,Uncertain,Uncertain,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2129,2.6919,-4.8254,loss_of_function,-1.27387172231437,0.8160481023861602,0.0028278791945469,Benign,0.4571,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256M,NP_000240:p.Cys256Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.80238,-1.00238,0.0027240849194531,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.1715,2.6919,-3.1315,loss_of_function,-1.60916394971023,0.7746559517084778,0.0020105619440221,Benign,0.51,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256N,NP_000240:p.Cys256Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46465,0.56259,0.4988010121164132,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2214,2.6919,-7.9128,loss_of_function,-2.63328709554196,0.6482269560410034,0.2929784849462331,Benign,0.5133,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256P,NP_000240:p.Cys256Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.4011,0.22075,2.205665228965189,Neutral,Uncertain,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.79,-,-0.2833,2.6919,-6.5909,loss_of_function,-3.03072805326319,0.599162484325538,0.0428475334884151,Benign,0.8375,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256Q,NP_000240:p.Cys256Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.80903,0.34082,0.3490838656882872,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2386,2.6919,-6.5909,loss_of_function,-2.8246076072392,0.624608253306944,0.0337468933092322,Benign,0.8303,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256R,NP_000240:p.Cys256Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.05281,4.05884,0.3251914123214239,Uncertain,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2969,2.6919,-22.2006,loss_of_function,-2.84831016478548,0.6216821495883399,0.1527269126139103,Benign,0.8814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256S,NP_000240:p.Cys256Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.71151,1.01973,0.9383642950185284,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479678,Uncertain significance,1,90.79,-,-0.1412,2.6919,-3.743,loss_of_function,-0.30839545178784,0.9352370844146008,0.0027746697147291,Benign,0.2556,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256T,NP_000240:p.Cys256Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44927,0.06769,0.4673360412581118,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.1683,2.6919,-2.2547,loss_of_function,-1.65231523503066,0.7693288836825015,0.0050051909797006,Benign,0.3887,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256V,NP_000240:p.Cys256Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34981,-0.37823,-0.4342829997435743,Neutral,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.1987,2.6919,-8.9128,loss_of_function,-2.56213317602088,0.6570109764192836,0.3930291146534294,Uncertain,0.5253,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256W,NP_000240:p.Cys256Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.44391,3.94524,0.3818982411590388,Uncertain,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.79,-,-0.2417,2.6919,-22.2006,loss_of_function,-3.59086785864847,0.5300126820615518,0.4738653773970379,Uncertain,0.7005,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +C256Y,NP_000240:p.Cys256Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.47523,3.69218,0.5480013448317796,Uncertain,Neutral,True,0.332,,,,,,,,,,6.8,,False,6.8,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,232268,Uncertain significance,2,90.79,-,-0.172,2.6919,-7.3279,loss_of_function,-1.32790187125476,0.8093780280947039,0.051524834869098,Benign,0.4149,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257A,NP_000240:p.Ile257Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.33316,2.58401,2.18287997940864,Uncertain,Uncertain,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.1305,2.2999,-5.743,loss_of_function,-1.27999583187877,0.8152920751205565,0.0679608229400237,Benign,0.2963,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257C,NP_000240:p.Ile257Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.26068,2.74796,2.2107084964099912,Uncertain,Uncertain,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.1945,2.2999,-22.2006,loss_of_function,-2.12706746539223,0.7107202603740611,0.7351434864751564,Pathogenic,0.5531,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257D,NP_000240:p.Ile257Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.9805,3.32143,2.501958760544896,Uncertain,Uncertain,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.3385,2.2999,-22.2006,loss_of_function,-2.97596626336139,0.6059228804033114,0.2885564818051884,Benign,0.8431,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257E,NP_000240:p.Ile257Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.06149,2.67415,1.9460776758774272,Uncertain,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.2465,2.2999,-7.9128,loss_of_function,-2.34434429000423,0.6838972256352029,0.2202151444343202,Benign,0.805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257F,NP_000240:p.Ile257Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23734,0.76122,0.6701168569285817,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.29,E,-0.1076,2.2999,-8.9128,loss_of_function,-2.57824054397061,0.6550225062230779,0.6357641118929185,Uncertain,0.1643,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257G,NP_000240:p.Ile257Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.41019,4.88844,3.519484592949223,Destabilizing,Destabilizing,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.2241,2.2999,-6.3279,loss_of_function,-2.32007106808506,0.6868937784241373,0.1982471052542054,Benign,0.5814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257H,NP_000240:p.Ile257His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.97429,1.78844,1.3447766862874733,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.2271,2.2999,-6.9129,loss_of_function,-2.11741784718322,0.711911515101293,0.0570958859513,Benign,0.4638,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257K,NP_000240:p.Ile257Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.35728,2.27007,1.95240242683622,Uncertain,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.29,E,-0.3119,2.2999,-22.2006,loss_of_function,-2.78744953526938,0.6291954533318675,0.3079503416042116,Benign,0.6897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257L,NP_000240:p.Ile257Leu,"hg38,3:g.37014523A>C",,,0.507,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.51979,0.5415,0.3732816640470315,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.29,E,-0.0268,2.2999,-7.9128,loss_of_function,-1.10406187514605,0.8370112927205632,0.0738235632002365,Benign,0.1038,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257M,NP_000240:p.Ile257Met,"hg19,3:g.37056016C>G",,,0.535,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.64061,1.32415,1.0709164392226438,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1054250,Uncertain significance,2,93.29,E,-0.0213,2.2999,-5.743,loss_of_function,-0.249102955313143,0.9425568006132081,0.0360391740773924,Benign,0.1032,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257N,NP_000240:p.Ile257Asn,"hg19,3:g.37056015T>A",,,0.677,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",2.08291,2.18503,2.0185370468140538,Uncertain,Uncertain,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.1655,2.2999,-5.3279,loss_of_function,-1.83744261609487,0.7464747289319128,0.0113642281532165,Benign,0.213,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257P,NP_000240:p.Ile257Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.31849,3.68878,4.898470482026503,Destabilizing,Destabilizing,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.2907,2.2999,-8.9128,loss_of_function,-4.10853825927891,0.4661057690063524,0.6329715500554316,Uncertain,0.8328,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257Q,NP_000240:p.Ile257Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.61823,1.50578,1.906374226718528,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.1901,2.2999,-4.743,loss_of_function,-1.24313141141202,0.8198430235826084,0.0092482845991427,Benign,0.4701,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257R,NP_000240:p.Ile257Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.66577,2.26837,1.3530225787826784,Uncertain,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.29,E,-0.2629,2.2999,-7.3279,loss_of_function,-2.4997768691209,0.6647089229865342,0.1437830728043068,Benign,0.5785,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257S,NP_000240:p.Ile257Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.99287,3.15714,2.543090958553767,Uncertain,Uncertain,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.1791,2.2999,-7.3279,loss_of_function,-1.50719701468954,0.7872438687362555,0.0624074803239452,Benign,0.212,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257T,NP_000240:p.Ile257Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.79381,2.28231,1.6773100483157954,Uncertain,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.29,E,-0.0679,2.2999,-1.8254,loss_of_function,-0.289048424467707,0.9376254937022838,0.0001834738911469,Benign,0.1695,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257V,NP_000240:p.Ile257Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.88813,0.93946,0.4664453524891893,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,232951,Uncertain significance,2,93.29,E,0.0387,2.2999,-2.8905,gain_of_function,-0.109628355897446,0.9597750751898744,0.000972949296862,Benign,0.0639,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257W,NP_000240:p.Ile257Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.14108,0.85136,0.7174887463567095,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.29,E,-0.2644,2.2999,-22.2006,loss_of_function,-3.24968922254366,0.5721315156036826,0.7510071087820651,Pathogenic,0.8359,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I257Y,NP_000240:p.Ile257Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.14596,0.77891,0.9989410011038784,Neutral,Neutral,True,0.478,,,,,,,Uncertain,Uncertain,Uncertain,32.6,,False,32.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.29,E,-0.2054,2.2999,-8.9128,loss_of_function,-2.92299358168072,0.6124624093358998,0.2832130699063953,Benign,0.5361,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258A,NP_000240:p.Phe258Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.42162,3.99048,4.30276127168743,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.1951,1.9681,-7.9128,loss_of_function,-2.35021890640667,0.6831719985424307,0.4793374023159175,Uncertain,0.6923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258C,NP_000240:p.Phe258Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.59499,3.31837,4.475924191091076,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.2361,1.9681,-22.2006,loss_of_function,-2.50077636721204,0.6645855339777527,0.5971854114709516,Uncertain,0.2218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258D,NP_000240:p.Phe258Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.47262,3.43095,5.203038114004493,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.391,1.9681,-22.2006,loss_of_function,-3.36690195068479,0.5576614906280312,0.8490428405664272,Pathogenic,0.9819,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258E,NP_000240:p.Phe258Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.74448,4.91054,4.609563162165271,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.2925,1.9681,-8.9128,loss_of_function,-2.79929316962168,0.6277333451837326,0.558779082468218,Uncertain,0.9814,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258G,NP_000240:p.Phe258Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.57341,6.23163,6.121210838735404,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.3034,1.9681,-22.2006,loss_of_function,-4.22637154531954,0.45155913555611804,0.7612785166360021,Pathogenic,0.8692,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258H,NP_000240:p.Phe258His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.84974,1.75918,2.776097003266722,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.2956,1.9681,-22.2006,loss_of_function,-2.17359098544967,0.7049768866990126,0.3784337934445637,Uncertain,0.8626,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258I,NP_000240:p.Phe258Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.59969,3.5102,2.3021311564728766,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.1252,1.9681,-5.2124,loss_of_function,-1.26304331316832,0.8173848799978992,0.2495718744190564,Benign,0.191,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258K,NP_000240:p.Phe258Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.27355,6.28435,5.222005896353597,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.3672,1.9681,-22.2006,loss_of_function,-3.98375400749007,0.4815105059200638,0.7277694998157123,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258L,NP_000240:p.Phe258Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.16369,2.26599,1.746663961963426,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"2834362, 1050049, 455451","Uncertain significance, Uncertain significance, Uncertain significance","1, 0, 2",94.65,E,-0.0713,1.9681,-2.0674,loss_of_function,-0.223277465180207,0.9457449824187035,0.0022498937316679,Benign,0.525,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258M,NP_000240:p.Phe258Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2675,2.40952,2.2784375135442283,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.1077,1.9681,-3.1315,loss_of_function,-0.456269589596927,0.9169818786764148,0.0047743369482756,Benign,0.281,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258N,NP_000240:p.Phe258Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.12419,3.01088,4.135729575916137,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.2528,1.9681,-8.9128,loss_of_function,-2.68307477030431,0.6420806193016743,0.6132528575367374,Uncertain,0.8565,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258P,NP_000240:p.Phe258Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.94815,4.92007,8.174775901424107,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.3155,1.9681,-7.3279,loss_of_function,-2.62995248661352,0.6486386167475134,0.563988754284187,Uncertain,0.9811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258Q,NP_000240:p.Phe258Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.6793,3.72721,3.7735265882616,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.243,1.9681,-6.5909,loss_of_function,-2.3738913743698,0.6802496094120511,0.3222279252972442,Uncertain,0.9197,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258R,NP_000240:p.Phe258Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.63508,5.18776,4.148925784113342,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.3686,1.9681,-22.2006,loss_of_function,-3.42119110688819,0.5509594416387407,0.7224292371818564,Pathogenic,0.9754,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258S,NP_000240:p.Phe258Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.70896,3.76497,5.286870893477978,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.169,1.9681,-6.9129,loss_of_function,-2.27483477026602,0.6924782432653565,0.4409303707692079,Uncertain,0.5855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258T,NP_000240:p.Phe258Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.42534,3.44864,4.348717418034069,Destabilizing,Destabilizing,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.65,E,-0.2111,1.9681,-6.1055,loss_of_function,-2.29062175940629,0.6905293241439194,0.496288024849063,Uncertain,0.6413,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258V,NP_000240:p.Phe258Val,"hg19,3:g.37056017T>G, hg38,3:g.37014526T>G",,,0.741,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.39796,2.7398,2.983998482432464,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1760357,Uncertain significance,1,94.65,E,-0.1283,1.9681,-6.9129,loss_of_function,-0.659128089333174,0.8919388001280482,0.6623853723566864,Uncertain,0.184,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258W,NP_000240:p.Phe258Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.34804,0.15068,1.2455605642016916,Uncertain,Uncertain,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.65,E,-0.1119,1.9681,-6.5909,loss_of_function,-1.61321415566687,0.7741559498547667,0.6257234809998098,Uncertain,0.7305,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F258Y,NP_000240:p.Phe258Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2812,0.89048,1.2166019945883233,Neutral,Neutral,True,0.552,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.65,E,-0.0839,1.9681,-7.3279,loss_of_function,-2.05166681050104,0.7200285443527628,0.5199539808257345,Uncertain,0.3469,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259A,NP_000240:p.Leu259Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.97611,2.55034,2.9411728657852767,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.2448,1.1591,-8.9128,loss_of_function,-3.15458699371307,0.5838719779940964,0.9352084812745728,Pathogenic,0.8146,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259C,NP_000240:p.Leu259Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.15165,2.15238,3.089904220902485,Uncertain,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.2341,1.1591,-8.9128,loss_of_function,-3.17093808116387,0.5818534203890959,0.9422550741469616,Pathogenic,0.7229,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259D,NP_000240:p.Leu259Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77624,4.04932,3.3745315078358304,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.4342,1.1591,-22.2006,loss_of_function,-3.87254289051118,0.49523962617667133,0.987635398175784,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259E,NP_000240:p.Leu259Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.70928,3.92789,3.10844917712754,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.3344,1.1591,-8.9128,loss_of_function,-3.87254289051118,0.49523962617667133,0.9895170591822416,Pathogenic,0.9671,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259F,NP_000240:p.Leu259Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",8.29168,1.92347,1.4673921321400845,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,645025,Uncertain significance,1,95.47,E,-0.1732,1.1591,-7.9128,loss_of_function,-2.77760587652059,0.6304106625519384,0.7549445086307913,Pathogenic,0.4085,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259G,NP_000240:p.Leu259Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.49399,4.89592,4.258862200973733,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.3875,1.1591,-22.2006,loss_of_function,-4.76097787174952,0.3855614660345214,0.9865108816269694,Pathogenic,0.9676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259H,NP_000240:p.Leu259His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.24422,3.42211,2.1759438505562936,Destabilizing,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.355,1.1591,-22.2006,loss_of_function,-3.06682201942801,0.5947066491943361,0.929701316859589,Pathogenic,0.8151,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259I,NP_000240:p.Leu259Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.9939,-0.7602,1.4939323180272148,Neutral,Neutral,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,-0.0887,1.1591,-2.9822,loss_of_function,-0.498059545809508,0.9118228680491786,0.0200334900576842,Benign,0.0971,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259K,NP_000240:p.Leu259Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.46583,6.75442,3.361468971567523,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,-0.4013,1.1591,-22.2006,loss_of_function,-4.76097787174952,0.3855614660345214,0.985307706477014,Pathogenic,0.964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259M,NP_000240:p.Leu259Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32555,1.8983,1.5194058893544835,Neutral,Neutral,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.47,E,-0.1291,1.1591,-6.3279,loss_of_function,-1.91402931782183,0.7370200263209683,0.6886637894673527,Pathogenic,0.1947,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259N,NP_000240:p.Leu259Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.92473,2.63605,2.466813866588121,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.3805,1.1591,-22.2006,loss_of_function,-3.42193800995899,0.5508672357302163,0.9108811705908156,Pathogenic,0.9287,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259P,NP_000240:p.Leu259Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.59416,3.38639,6.858692366115499,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.3961,1.1591,-22.2006,loss_of_function,-4.76097787174952,0.3855614660345214,0.9901665198267005,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259Q,NP_000240:p.Leu259Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.91607,2.81429,2.4063954105619523,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.3334,1.1591,-22.2006,loss_of_function,-3.87254289051118,0.49523962617667133,0.972196550964193,Pathogenic,0.7659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259R,NP_000240:p.Leu259Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.8781,9.05068,2.6565993691705074,Destabilizing,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.3929,1.1591,-22.2006,loss_of_function,-4.76097787174952,0.3855614660345214,0.9755744954639936,Pathogenic,0.9221,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259S,NP_000240:p.Leu259Ser,"hg19,3:g.37056021T>C",,1.99320715003e-05,0.818,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.26198,3.31463,3.607908906172264,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,182519,Conflicting classifications of pathogenicity,1,95.47,E,-0.2752,1.1591,-8.9128,loss_of_function,-2.74571779645648,0.6343472769646469,0.858485114333824,Pathogenic,0.8338,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259T,NP_000240:p.Leu259Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.91484,2.27483,2.910030789007056,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.47,E,-0.2429,1.1591,-7.9128,loss_of_function,-2.64218073344153,0.6471290278162101,0.7854250100183785,Pathogenic,0.672,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259V,NP_000240:p.Leu259Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.7723,0.35476,2.0468557230720394,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1760498,Uncertain significance,1,95.47,E,-0.1291,1.1591,-3.7836,loss_of_function,-0.525272686876257,0.9084633793899978,0.173048834720019,Benign,0.1162,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259W,NP_000240:p.Leu259Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",12.00403,7.94694,2.015583842803469,Destabilizing,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.3453,1.1591,-22.2006,loss_of_function,-3.82032790737655,0.5016856164888464,0.9763897577209752,Pathogenic,0.8395,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L259Y,NP_000240:p.Leu259Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.75434,4.24048,2.165697369585704,Destabilizing,Uncertain,True,0.598,,,,,,,,,,0.8,,False,0.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.47,E,-0.3382,1.1591,-22.2006,loss_of_function,-3.37255244920572,0.5569639311051072,0.9049090533292616,Pathogenic,0.8496,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260A,NP_000240:p.Leu260Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.50811,3.50102,3.391755490713269,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.3594,0.6509,-22.2066,loss_of_function,-5.42555680454616,0.30351855219430773,0.9564329169563184,Pathogenic,0.8129,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260C,NP_000240:p.Leu260Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.56919,2.8068,3.4277123199053547,Uncertain,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.269,0.6509,-6.5969,loss_of_function,-3.89983526373284,0.4918703562311181,0.8180041140197816,Pathogenic,0.6794,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260D,NP_000240:p.Leu260Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.32912,4.86565,4.46615001382695,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.481,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9934932078700872,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260E,NP_000240:p.Leu260Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.7513,3.67177,4.037813356200964,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.449,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.990812338240782,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260F,NP_000240:p.Leu260Phe,"hg19,3:g.37056023C>T, hg38,3:g.37014532C>T",,3.9878450483e-06,0.776,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.51162,0.08503,1.4055285693491748,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90349,Conflicting classifications of pathogenicity,1,94.82,E,-0.202,0.6509,-4.3953,loss_of_function,-2.76616360284054,0.6318232223357976,0.3541409196205404,Uncertain,0.4565,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260G,NP_000240:p.Leu260Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.90945,5.62925,5.134967567622493,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.4343,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9912501917690456,Pathogenic,0.9623,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260H,NP_000240:p.Leu260His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.60689,2.09388,2.780502390002677,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,405420,Conflicting classifications of pathogenicity,1,94.82,E,-0.4018,0.6509,-22.2066,loss_of_function,-4.90671524670301,0.36757004574334157,0.9923563733020032,Pathogenic,0.9694,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260I,NP_000240:p.Leu260Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.2455,1.94898,1.47658903400704,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1760631,Uncertain significance,1,94.82,E,-0.1496,0.6509,-5.7489,loss_of_function,-2.48384112537982,0.6666762060077208,0.4507716577815148,Uncertain,0.2155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260K,NP_000240:p.Leu260Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.47323,4.25306,4.569294026975308,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.82,E,-0.448,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9913624714020052,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260M,NP_000240:p.Leu260Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.46678,1.33707,1.6877449566063405,Neutral,Neutral,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,94.82,E,-0.181,0.6509,-7.3339,loss_of_function,-2.86173883785091,0.6200243668737131,0.8789519362429813,Pathogenic,0.2785,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260N,NP_000240:p.Leu260Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.50121,3.4966,3.23483302377226,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.4273,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9924019038978242,Pathogenic,0.9819,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260P,NP_000240:p.Leu260Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.40563,4.95578,5.245954238191752,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.4429,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9907077219252912,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260Q,NP_000240:p.Leu260Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.19885,2.47653,3.121988414878028,Uncertain,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.3802,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.9918827576970016,Pathogenic,0.9557,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260R,NP_000240:p.Leu260Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",6.80451,3.25918,3.7985191031274455,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90350,Pathogenic,3,94.82,E,-0.4396,0.6509,-22.2066,loss_of_function,-6.65079836147776,0.15226129360836907,0.991978634325838,Pathogenic,0.984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260S,NP_000240:p.Leu260Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.42528,4.12891,4.199546587279223,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.3898,0.6509,-22.2066,loss_of_function,-5.16587744674962,0.3355762207817392,0.9302880359634182,Pathogenic,0.9411,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260T,NP_000240:p.Leu260Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.37265,3.40306,3.0558941996335247,Destabilizing,Destabilizing,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.82,E,-0.3626,0.6509,-22.2066,loss_of_function,-4.31944989173266,0.44006852341313896,0.849401965521402,Pathogenic,0.8003,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260V,NP_000240:p.Leu260Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.65941,2.52109,1.602177296872514,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,231936,Uncertain significance,1,94.82,E,-0.1877,0.6509,-6.1115,loss_of_function,-2.37621349828213,0.6799629409628062,0.795099919364742,Pathogenic,0.1991,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260W,NP_000240:p.Leu260Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.59745,1.24796,2.428038103528709,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.82,E,-0.3921,0.6509,-22.2066,loss_of_function,-4.90671524670301,0.36757004574334157,0.956337811085766,Pathogenic,0.9541,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L260Y,NP_000240:p.Leu260Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.37158,0.73503,2.3387260735230457,Uncertain,Uncertain,True,0.575,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.82,E,-0.385,0.6509,-22.2066,loss_of_function,-4.6712283736338,0.39664112862647966,0.9213770026673812,Pathogenic,0.9449,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261A,NP_000240:p.Phe261Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.22316,4.78605,4.387806838389566,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4402,0.0972,-22.2066,loss_of_function,-7.32038452895568,0.06960023179014879,0.9443476317495926,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261C,NP_000240:p.Phe261Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.84065,4.38605,4.648551426266252,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4083,0.0972,-22.2066,loss_of_function,-7.32038452895568,0.06960023179014879,0.9661613842221192,Pathogenic,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261D,NP_000240:p.Phe261Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.62246,6.68299,5.640110773012467,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.5632,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.9941211230209214,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261E,NP_000240:p.Phe261Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.48453,6.0898,5.369650551440872,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.5325,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.9874916808730276,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261G,NP_000240:p.Phe261Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.66885,7.05884,6.130952464560068,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4077,0.0972,-8.9187,loss_of_function,-7.58369727990679,0.037094017293695526,0.9936164906146367,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261H,NP_000240:p.Phe261His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.30169,3.16395,2.9591615655746115,Destabilizing,Uncertain,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4678,0.0972,-22.2066,loss_of_function,-4.55511688975837,0.41097520392941467,0.9951589657446972,Pathogenic,0.9886,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261I,NP_000240:p.Phe261Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.27137,3.09048,3.2825235197611127,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2813504,Uncertain significance,1,94.0,E,-0.3841,0.0972,-22.2066,loss_of_function,-6.90304369273643,0.12112136280742702,0.9063036313920808,Pathogenic,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261K,NP_000240:p.Phe261Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.35377,6.22891,5.260244334223931,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.5394,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.9885550350450438,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261L,NP_000240:p.Phe261Leu,"hg19,3:g.37056028C>A",,,0.903,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.29425,1.80714,2.3519333210097018,Uncertain,Uncertain,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"3230793, 1760836, 1016955","Uncertain significance, Uncertain significance, Uncertain significance","1, 1, 1",94.0,E,-0.2703,0.0972,-7.3339,loss_of_function,-5.32939354609384,0.315389999720635,0.8637513940521608,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261M,NP_000240:p.Phe261Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.24943,2.62721,2.79935820758277,Uncertain,Uncertain,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.3772,0.0972,-22.2066,loss_of_function,-6.90304369273643,0.12112136280742702,0.9360592708528104,Pathogenic,0.9923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261N,NP_000240:p.Phe261Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.28733,4.70646,4.37904025319183,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4928,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.981046438440534,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261P,NP_000240:p.Phe261Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.29957,8.23265,7.417199871242437,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.5635,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.9928704028756692,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261Q,NP_000240:p.Phe261Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.1982,5.12143,4.26336149019516,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4949,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.993776528253643,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261R,NP_000240:p.Phe261Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.00295,6.87959,4.1681824727373895,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.5408,0.0972,-22.2066,loss_of_function,-7.58369727990679,0.037094017293695526,0.9809485662126248,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261S,NP_000240:p.Phe261Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.52063,5.9051,5.280854173726186,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4192,0.0972,-22.2066,loss_of_function,-7.32038452895568,0.06960023179014879,0.9329520213178826,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261T,NP_000240:p.Phe261Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.01303,4.40204,4.580472355979228,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,94.0,E,-0.4655,0.0972,-22.2066,loss_of_function,-7.02542281851509,0.10601354103244519,0.9754302531606204,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261V,NP_000240:p.Phe261Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.16303,3.21497,3.451291414543467,Destabilizing,Destabilizing,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,3230794,Uncertain significance,1,94.0,E,-0.3785,0.0972,-22.2066,loss_of_function,-6.90304369273643,0.12112136280742702,0.9427903374141788,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261W,NP_000240:p.Phe261Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.07232,2.06701,0.999909373468299,Uncertain,Uncertain,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,94.0,E,-0.3637,0.0972,-22.2066,loss_of_function,-4.55511688975837,0.41097520392941467,0.9847566575166128,Pathogenic,0.964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F261Y,NP_000240:p.Phe261Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.46748,0.84592,0.6825279521604055,Uncertain,Uncertain,True,0.474,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,962851,Uncertain significance,2,94.0,E,-0.2642,0.0972,-8.9187,loss_of_function,-3.59339723953728,0.5297004275375384,0.8265223062323606,Pathogenic,0.7913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262A,NP_000240:p.Ile262Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.04898,3.95714,3.368247416525893,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.4049,0.2308,-22.2036,loss_of_function,-6.82137633252726,0.13120327763581796,0.9684855544724073,Pathogenic,0.9838,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262C,NP_000240:p.Ile262Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.93713,3.40952,3.205130550618019,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.3849,0.2308,-22.2036,loss_of_function,-6.57903296570604,0.16112080132287207,0.992856603891894,Pathogenic,0.9819,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262D,NP_000240:p.Ile262Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.7615,4.01088,4.608594374805428,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.5289,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9933320635504792,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262E,NP_000240:p.Ile262Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.67629,3.36497,4.243741212385257,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.5098,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9935254299886758,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262F,NP_000240:p.Ile262Phe,"hg19,3:g.37056029A>T",,,0.935,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",3.51096,3.2398,0.9195113533632028,Destabilizing,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.15,E,-0.3658,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9874711301809171,Pathogenic,0.9236,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262G,NP_000240:p.Ile262Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.98394,6.76156,5.462000595463816,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.4955,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.992775485043258,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262H,NP_000240:p.Ile262His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.5207,3.59864,2.6442873496994324,Destabilizing,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.4955,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9927985129458174,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262K,NP_000240:p.Ile262Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.22335,4.12619,5.520175225496809,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.15,E,-0.5023,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9949855505652558,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262L,NP_000240:p.Ile262Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07812,1.43163,0.6001333823886598,Neutral,Neutral,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.15,E,-0.2142,0.2308,-7.3309,loss_of_function,-2.83768325692572,0.6229940516708469,0.8908931671328333,Pathogenic,0.5338,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262M,NP_000240:p.Ile262Met,"hg19,3:g.37056031C>G, hg38,3:g.37014540C>G",,3.9930042565e-06,0.801,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.119,2.42789,1.2160068287887722,Uncertain,Neutral,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,187425,Uncertain significance,2,91.15,E,-0.2957,0.2308,-22.2036,loss_of_function,-4.33544293635105,0.4380941665430713,0.8925986536489543,Pathogenic,0.6629,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262N,NP_000240:p.Ile262Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.16076,2.81361,3.217626924555802,Uncertain,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.442,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9934411652625714,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262P,NP_000240:p.Ile262Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.52203,5.00238,7.225254859240798,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.4811,0.2308,-8.9157,loss_of_function,-7.2185905916181,0.0821667920861531,0.9941871369857548,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262Q,NP_000240:p.Ile262Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.85864,2.89592,2.966394097218401,Uncertain,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.4696,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9940657411714626,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262R,NP_000240:p.Ile262Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.09588,3.12279,4.366858418197119,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.15,E,-0.5292,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9943785962700256,Pathogenic,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262S,NP_000240:p.Ile262Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.90694,4.09932,4.209480913126513,Destabilizing,Destabilizing,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483593,Uncertain significance,1,91.15,E,-0.4454,0.2308,-22.2036,loss_of_function,-6.82137633252726,0.13120327763581796,0.9932253818406552,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262T,NP_000240:p.Ile262Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.05593,3.00408,2.9630960081395696,Destabilizing,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.15,E,-0.2944,0.2308,-8.9157,loss_of_function,-6.82137633252726,0.13120327763581796,0.9848426046805778,Pathogenic,0.975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262V,NP_000240:p.Ile262Val,"hg19,3:g.37056029A>G, hg38,3:g.37014538A>G",,,0.661,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.47693,0.87143,1.100756142187736,Neutral,Neutral,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479681,Uncertain significance,2,91.15,E,-0.1662,0.2308,-5.7459,loss_of_function,-0.768591147189726,0.8784254794655656,0.5239775392912503,Uncertain,0.1697,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262W,NP_000240:p.Ile262Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.95848,2.34864,2.41256874375441,Uncertain,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.15,E,-0.4548,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9933299373432616,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I262Y,NP_000240:p.Ile262Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.57043,1.21565,1.9094882809825968,Uncertain,Uncertain,True,0.289,,,,,,,,,,0.9,,False,0.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.15,E,-0.4636,0.2308,-22.2036,loss_of_function,-7.2185905916181,0.0821667920861531,0.9943416496214652,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263A,NP_000240:p.Asn263Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.3875,1.9585,1.231110684818905,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.77,T,-0.2458,0.076,-7.3309,loss_of_function,-5.08392310319897,0.3456935639819858,0.9931593857555606,Pathogenic,0.9871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263C,NP_000240:p.Asn263Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.7504,1.78639,1.592118257220976,Neutral,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.77,T,-0.3716,0.076,-22.2036,loss_of_function,-6.67278482367614,0.14954704352493348,0.991612976581205,Pathogenic,0.8934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263D,NP_000240:p.Asn263Asp,"hg38,3:g.37014541A>G",,,0.927,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",2.00176,0.82007,1.6828804950118772,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.77,T,-0.3249,0.076,-22.2036,loss_of_function,-4.55511688975837,0.41097520392941467,0.9449694222727252,Pathogenic,0.9811,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263E,NP_000240:p.Asn263Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.30458,2.97075,1.5235334524165849,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3521,0.076,-22.2036,loss_of_function,-4.55511688975837,0.41097520392941467,0.9886525980589744,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263F,NP_000240:p.Asn263Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.9617,5.15782,0.6656791142286217,Uncertain,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3789,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.990250689986912,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263G,NP_000240:p.Asn263Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.74534,2.43129,1.8007342111406568,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.77,T,-0.3525,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.940134305052659,Pathogenic,0.923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263H,NP_000240:p.Asn263His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.43745,3.09762,1.002863770252676,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,827305,Uncertain significance,1,88.77,T,-0.3267,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.9816288358736124,Pathogenic,0.9452,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263I,NP_000240:p.Asn263Ile,"hg19,3:g.37056033A>T",,,0.900,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",2.21133,4.21122,0.6598388918977163,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.372,0.076,-22.2036,loss_of_function,-7.32038452895568,0.06960023179014879,0.9895588922484336,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263K,NP_000240:p.Asn263Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.25567,2.69456,1.1431333648826092,Uncertain,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3249,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.9738961112092746,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263L,NP_000240:p.Asn263Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38689,0.3619,0.104507586868493,Neutral,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3784,0.076,-22.2036,loss_of_function,-7.32038452895568,0.06960023179014879,0.9779519426750096,Pathogenic,0.9726,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263M,NP_000240:p.Asn263Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.18402,1.54456,0.5237268140922793,Neutral,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3326,0.076,-22.2036,loss_of_function,-7.02542281851509,0.10601354103244519,0.9690031834089616,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263P,NP_000240:p.Asn263Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.00409,10.31803,6.620734599584704,Destabilizing,Destabilizing,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.77,T,-0.4873,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.990141628690694,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263Q,NP_000240:p.Asn263Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77905,2.44218,1.138191509083484,Uncertain,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3157,0.076,-22.2036,loss_of_function,-4.55511688975837,0.41097520392941467,0.9837412678470524,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263R,NP_000240:p.Asn263Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.83737,1.85816,0.6973559352622977,Neutral,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3571,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.985604609391332,Pathogenic,0.99,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263S,NP_000240:p.Asn263Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.31305,2.63299,1.5665835850524883,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455454,Uncertain significance,2,88.77,T,-0.2238,0.076,-8.9157,loss_of_function,-5.74820615015796,0.26368717753541465,0.973814733720884,Pathogenic,0.5611,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263T,NP_000240:p.Asn263Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.50168,3.01361,1.689319546186961,Uncertain,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,90353,Uncertain significance,1,88.77,T,-0.3412,0.076,-22.2036,loss_of_function,-6.67278482367614,0.14954704352493348,0.97383929224606,Pathogenic,0.9796,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263V,NP_000240:p.Asn263Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.19637,4.37313,0.9516631582091128,Destabilizing,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3654,0.076,-22.2036,loss_of_function,-7.32038452895568,0.06960023179014879,0.9920145743626334,Pathogenic,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263W,NP_000240:p.Asn263Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.63508,9.02959,0.3278703880804151,Destabilizing,Uncertain,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.384,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.9879921435981928,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N263Y,NP_000240:p.Asn263Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.84624,8.03469,0.9304393054732172,Uncertain,Neutral,True,0.186,,,,,,,Uncertain,Uncertain,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.77,T,-0.3624,0.076,-22.2036,loss_of_function,-7.58369727990679,0.037094017293695526,0.9900695128678084,Pathogenic,0.9755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264A,NP_000240:p.His264Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.89557,1.58061,1.0965817086265994,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.1043,1.3005,-7.9128,loss_of_function,-1.58488707912284,0.777652954929043,0.944500638569358,Pathogenic,0.8644,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264C,NP_000240:p.His264Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.40088,2.12007,1.4908987169382122,Uncertain,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.1639,1.3005,-8.9128,loss_of_function,-4.34607218999606,0.43678197487109993,0.964966226567612,Pathogenic,0.5615,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264D,NP_000240:p.His264Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.36656,0.68265,1.008848597219303,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,182520,Conflicting classifications of pathogenicity,1,88.75,T,-0.1349,1.3005,-4.665,loss_of_function,-1.98091834578694,0.7287625109418638,0.1175599806022708,Benign,0.3862,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264E,NP_000240:p.His264Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.04637,0.98707,1.071217639742047,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.2359,1.3005,-22.2006,loss_of_function,-2.50407182865045,0.6641787060668566,0.3251593849181253,Uncertain,0.7583,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264F,NP_000240:p.His264Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65175,0.64218,0.1792713250942829,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.75,T,-0.1988,1.3005,-22.2006,loss_of_function,-3.22412295808737,0.5752876957479686,0.958640931449896,Pathogenic,0.8669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264G,NP_000240:p.His264Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43222,0.91122,1.6422116354101302,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.1731,1.3005,-5.2124,loss_of_function,-2.48724991544192,0.6662553875683109,0.4080145634455193,Uncertain,0.5133,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264I,NP_000240:p.His264Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.71686,5.61633,0.6515148673684262,Uncertain,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.75,T,-0.2634,1.3005,-22.2006,loss_of_function,-5.23225680652731,0.3273816244347074,0.9777018996121888,Pathogenic,0.9856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264K,NP_000240:p.His264Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.41136,0.65408,0.8461763761502386,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.75,T,-0.2201,1.3005,-22.2006,loss_of_function,-3.64521072131712,0.5233040029570354,0.825797899584368,Pathogenic,0.6354,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264L,NP_000240:p.His264Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.54759,0.91088,0.1292199506792357,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,142116,Uncertain significance,2,88.75,T,-0.227,1.3005,-22.2006,loss_of_function,-5.23225680652731,0.3273816244347074,0.944658195902225,Pathogenic,0.8306,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264M,NP_000240:p.His264Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2982,1.8381,0.5128123845736401,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.75,T,-0.1771,1.3005,-22.2006,loss_of_function,-5.23225680652731,0.3273816244347074,0.9662999195905944,Pathogenic,0.9544,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264N,NP_000240:p.His264Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.90967,0.03776,0.6471298367324504,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.0836,1.3005,-2.5379,loss_of_function,-1.55339112235421,0.7815411613405973,0.0110595660045058,Benign,0.1548,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264P,NP_000240:p.His264Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.53533,7.47449,3.7328068891819424,Uncertain,Uncertain,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.3404,1.3005,-22.2006,loss_of_function,-5.23225680652731,0.3273816244347074,0.9766570877184916,Pathogenic,0.9659,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264Q,NP_000240:p.His264Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27923,1.05034,1.003733748378351,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.0674,1.3005,-6.9129,loss_of_function,-2.4931372951923,0.6655285848278563,0.4474893200966594,Uncertain,0.5323,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264R,NP_000240:p.His264Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.0461,1.4551,0.4807413862569643,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1761206,Uncertain significance,1,88.75,T,-0.1406,1.3005,-7.9128,loss_of_function,-2.1646491068611,0.7060807702836525,0.7082796017992586,Pathogenic,0.3945,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264S,NP_000240:p.His264Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.46338,1.81497,1.252059734163271,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.1035,1.3005,-6.5909,loss_of_function,-1.59639677033242,0.776232072385774,0.428233215071539,Uncertain,0.5196,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264T,NP_000240:p.His264Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.5211,1.7602,1.1613961803702804,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.228,1.3005,-22.2006,loss_of_function,-4.34607218999606,0.43678197487109993,0.8756817874482088,Pathogenic,0.866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264V,NP_000240:p.His264Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.22566,5.02381,0.7715261886716981,Uncertain,Uncertain,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.75,T,-0.2198,1.3005,-22.2006,loss_of_function,-5.23225680652731,0.3273816244347074,0.976441509570438,Pathogenic,0.9728,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264W,NP_000240:p.His264Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.73478,1.44082,0.0392054192807678,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.75,T,-0.2151,1.3005,-22.2006,loss_of_function,-3.22412295808737,0.5752876957479686,0.9665678891068918,Pathogenic,0.8991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H264Y,NP_000240:p.His264Tyr,"hg19,3:g.37056035C>T, hg38,3:g.37014544C>T",3.18451054073e-05,1.59960329838e-05,0.911,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.61261,0.62721,0.3051288556570608,Neutral,Neutral,False,0.149,,,,,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90367,Uncertain significance,2,88.75,T,-0.149,1.3005,-22.2006,loss_of_function,-2.65290795249058,0.6458047422200917,0.895158366140675,Pathogenic,0.4348,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265A,NP_000240:p.Arg265Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74457,0.22653,1.6248322270089102,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.4097,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9941156325608032,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265C,NP_000240:p.Arg265Cys,"hg19,3:g.37058999C>T, hg38,3:g.37017508C>T",,,0.969,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.90366,0.05578,1.931327117873244,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,29654,Pathogenic,3,88.02,E,-0.4186,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.995549607077386,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265D,NP_000240:p.Arg265Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.80324,1.98673,2.865065549896211,Uncertain,Uncertain,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.5008,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9922892887695846,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265E,NP_000240:p.Arg265Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.14084,1.00476,2.266930350501906,Uncertain,Uncertain,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.446,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9936263424976228,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265F,NP_000240:p.Arg265Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03398,-2.20714,0.0201338080881263,Uncertain,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,E,-0.4419,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9926254019195284,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265G,NP_000240:p.Arg265Gly,"hg19,3:g.37058999C>G",,,0.956,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.68737,2.00782,2.953412257536192,Uncertain,Uncertain,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,801205,Conflicting classifications of pathogenicity,1,88.02,E,-0.4451,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9926468737860537,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265H,NP_000240:p.Arg265His,"hg19,3:g.37059000G>A, hg38,3:g.37017509G>A",,4.7720928013e-05,0.824,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12532,-0.41293,0.9570696792658172,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90381,Conflicting classifications of pathogenicity,1,88.02,E,-0.3795,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9599370703424124,Pathogenic,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265I,NP_000240:p.Arg265Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44787,-2.65136,0.1415340355251493,Uncertain,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.4391,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9938012581868376,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265K,NP_000240:p.Arg265Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.55746,0.69626,1.4238966302498728,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.02,E,-0.3,0.0001,-22.2096,loss_of_function,-4.58677296164676,0.4070672311510276,0.9832184955945796,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265L,NP_000240:p.Arg265Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.7868,-2.3983,-0.209912337879346,Uncertain,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1928288,Uncertain significance,2,88.02,E,-0.4122,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9938721892494008,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265M,NP_000240:p.Arg265Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.02923,-2.16735,0.3055740647589744,Uncertain,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.378,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9933757705046192,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265N,NP_000240:p.Arg265Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.38198,0.26939,1.719400680293749,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.4246,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9893453443494298,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265P,NP_000240:p.Arg265Pro,"hg19,3:g.37059000G>C",,,0.979,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.04016,5.4881,5.863731534733532,Uncertain,Uncertain,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,433856,Likely pathogenic,3,88.02,E,-0.5518,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9939183102964972,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265Q,NP_000240:p.Arg265Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37865,-0.7068,1.424631085219794,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.3844,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9935016804416336,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265S,NP_000240:p.Arg265Ser,"hg19,3:g.37058999C>A",,3.9767756303e-06,0.976,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.62605,0.92653,2.2106003449266844,Neutral,Uncertain,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90380,Pathogenic,3,88.02,E,-0.4102,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9914276433734832,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265T,NP_000240:p.Arg265Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.07231,-0.40442,1.5755171057756014,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.02,E,-0.4146,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9899230687373688,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265V,NP_000240:p.Arg265Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.29272,-1.89762,0.4808337994310613,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,619508,Pathogenic,1,88.02,E,-0.4262,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9936328247906504,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265W,NP_000240:p.Arg265Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09371,-0.90442,-0.1149180451537218,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,E,-0.4274,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.9904836259752176,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R265Y,NP_000240:p.Arg265Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.5887,-1.47177,0.2204032232178127,Neutral,Neutral,False,0.114,,,,,,,,,,4.3,,False,4.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.02,E,-0.4312,0.0001,-22.2096,loss_of_function,-7.63837411443384,0.030344109039334665,0.993364053124882,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266A,NP_000240:p.Leu266Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.79982,2.84388,2.880230472327861,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.2274,1.1132,-4.6739,loss_of_function,-2.14313756013782,0.7087363915910584,0.014245909709301,Benign,0.388,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266C,NP_000240:p.Leu266Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.64821,2.45544,3.29871009139358,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.2175,1.1132,-4.8344,loss_of_function,-2.98477831681663,0.6048350238573007,0.4661753138459397,Uncertain,0.6385,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266D,NP_000240:p.Leu266Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.57855,3.45578,3.8250644726333216,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.4384,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9820390970939944,Pathogenic,0.9946,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266E,NP_000240:p.Leu266Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.35813,3.16361,3.1310016375903937,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.4065,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9870332078512956,Pathogenic,0.9592,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266F,NP_000240:p.Leu266Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.03126,3.06871,1.4492681501037652,Uncertain,Neutral,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.11,E,-0.1826,1.1132,-8.9217,loss_of_function,-3.98800588181716,0.48098560791041894,0.8336352193617547,Pathogenic,0.6437,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266G,NP_000240:p.Leu266Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.18704,4.53503,4.400288687386798,Destabilizing,Destabilizing,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.3918,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9483020031396944,Pathogenic,0.8587,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266H,NP_000240:p.Leu266His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.43307,3.56293,2.499460118853381,Destabilizing,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.3593,1.1132,-22.2096,loss_of_function,-4.78804191985139,0.38222038304646255,0.917119665602047,Pathogenic,0.8634,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266I,NP_000240:p.Leu266Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.68183,4.18299,1.4060842002646423,Destabilizing,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.11,E,-0.191,1.1132,-22.2096,loss_of_function,-3.28757498995055,0.5674544808712484,0.8508707228928776,Pathogenic,0.5564,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266K,NP_000240:p.Leu266Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.94456,5.7,3.567033578307007,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.11,E,-0.4055,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9837379816345996,Pathogenic,0.971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266M,NP_000240:p.Leu266Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21727,1.26327,1.3503631322650778,Neutral,Neutral,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.11,E,-0.1363,1.1132,-6.9218,loss_of_function,-2.18693318069235,0.7033297797554805,0.7465893150873723,Pathogenic,0.2445,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266N,NP_000240:p.Leu266Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.22572,2.90646,3.0834435196811687,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.3847,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.892804530803607,Pathogenic,0.9013,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266P,NP_000240:p.Leu266Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",7.39092,4.14048,8.889289457147731,Destabilizing,Destabilizing,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,827372,Uncertain significance,2,92.11,E,-0.4003,1.1132,-22.2096,loss_of_function,-5.18127554159258,0.3336753110385003,0.8350231417245646,Pathogenic,0.967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266Q,NP_000240:p.Leu266Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.03004,2.75816,2.7317030878045383,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.3377,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9665270401176408,Pathogenic,0.7434,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266R,NP_000240:p.Leu266Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.73674,5.03061,2.366062835372069,Destabilizing,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.11,E,-0.3971,1.1132,-22.2096,loss_of_function,-6.0795973411571,0.22277661358458936,0.9682011149754908,Pathogenic,0.9355,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266S,NP_000240:p.Leu266Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.91101,3.48571,3.649886021559121,Destabilizing,Destabilizing,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.2501,1.1132,-3.167,loss_of_function,-2.12080190440726,0.7114937499547302,0.0479388049398832,Benign,0.5298,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266T,NP_000240:p.Leu266Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.86675,3.33503,2.9311323130858566,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.32,1.1132,-22.2096,loss_of_function,-4.04098348900823,0.4744454709187944,0.9018916939201151,Pathogenic,0.7798,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266V,NP_000240:p.Leu266Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.61772,2.38844,1.7704298382939965,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.11,E,-0.2273,1.1132,-22.2096,loss_of_function,-3.62801563744109,0.5254267527393373,0.8564786552521713,Pathogenic,0.4563,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266W,NP_000240:p.Leu266Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2954,3.20918,1.4232110795302302,Uncertain,Neutral,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.11,E,-0.3495,1.1132,-22.2096,loss_of_function,-4.58065991494354,0.40782189269568864,0.8775558671505246,Pathogenic,0.8482,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L266Y,NP_000240:p.Leu266Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.22901,3.23503,2.056973301536238,Uncertain,Uncertain,False,0.145,,,,,,,,,,7.2,,False,7.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.11,E,-0.2628,1.1132,-6.5999,loss_of_function,-3.89155518162089,0.49289254039883146,0.8119391886539211,Pathogenic,0.8334,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267A,NP_000240:p.Val267Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.02032,2.55034,2.403098885331344,Uncertain,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.3469,0.0428,-22.2096,loss_of_function,-6.21747259616297,0.20575577962654767,0.980737598301448,Pathogenic,0.9486,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267C,NP_000240:p.Val267Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.28715,1.8898,2.291558947877365,Uncertain,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.307,0.0428,-8.9217,loss_of_function,-6.38771931003256,0.18473865767414852,0.9924443921897784,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267D,NP_000240:p.Val267Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.70177,4.71259,4.114158724934256,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.5135,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9926569253366356,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267E,NP_000240:p.Val267Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.2111,3.42993,4.113735465095743,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.18,E,-0.4708,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9937564827772384,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267F,NP_000240:p.Val267Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.56672,1.15476,1.9115591688671127,Uncertain,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.424,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9273925376620048,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267G,NP_000240:p.Val267Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.52876,4.21701,4.838241546833733,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.4727,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9937313219230384,Pathogenic,0.9736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267H,NP_000240:p.Val267His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.54143,1.61327,2.860291492588092,Uncertain,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.5165,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9947951325384689,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267I,NP_000240:p.Val267Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.47016,0.7932,0.1372106775967913,Neutral,Neutral,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,233949,Uncertain significance,2,91.18,E,-0.2146,0.0428,-8.9217,loss_of_function,-2.77494944355517,0.6307386017780394,0.8308731016154713,Pathogenic,0.3611,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267K,NP_000240:p.Val267Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77555,4.34524,5.367874963341961,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.5097,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9942560264645308,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267L,NP_000240:p.Val267Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.44702,0.14422,0.7135723671190899,Neutral,Neutral,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,1761552,Uncertain significance,1,91.18,E,-0.3475,0.0428,-22.2096,loss_of_function,-4.38196776927793,0.4323506307930171,0.9766157299738392,Pathogenic,0.9804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267M,NP_000240:p.Val267Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2557,0.97075,1.7337622446810963,Neutral,Neutral,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.3566,0.0428,-22.2096,loss_of_function,-4.38196776927793,0.4323506307930171,0.915698055179468,Pathogenic,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267N,NP_000240:p.Val267Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.74892,3.14388,2.5911009490757144,Destabilizing,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.5013,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.99501268311268,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267P,NP_000240:p.Val267Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.88609,6.79218,6.312616564725042,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.5512,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9931452677915756,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267Q,NP_000240:p.Val267Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77411,2.36565,3.084868474299065,Uncertain,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.18,E,-0.4814,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9939568827146849,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267R,NP_000240:p.Val267Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.98878,5.1398,4.319382481925063,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.5307,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9949902531792948,Pathogenic,0.9958,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267S,NP_000240:p.Val267Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.36109,3.26735,3.343750667577159,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.4505,0.0428,-22.2096,loss_of_function,-6.38771931003256,0.18473865767414852,0.993713309091338,Pathogenic,0.9764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267T,NP_000240:p.Val267Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.95313,1.46701,1.8175490769761475,Neutral,Neutral,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.18,E,-0.3659,0.0428,-22.2096,loss_of_function,-6.38771931003256,0.18473865767414852,0.9936930240920384,Pathogenic,0.8877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267W,NP_000240:p.Val267Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",14.0755,8.24558,3.4101468629945355,Destabilizing,Destabilizing,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.4646,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9934244843117792,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V267Y,NP_000240:p.Val267Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.06346,1.93333,2.825676712877343,Uncertain,Uncertain,False,0.126,,,,,,,,,,1.0,,False,1.0,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,91.18,E,-0.4675,0.0428,-22.2096,loss_of_function,-7.29580359613109,0.07263477178881145,0.9945952423864411,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268A,NP_000240:p.Glu268Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.71842,1.17143,0.5725439351057299,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,924452,Uncertain significance,1,90.17,-,-0.1312,1.2321,-7.3368,loss_of_function,-3.30774012874424,0.5649650749286546,0.3843503903308627,Uncertain,0.6137,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268C,NP_000240:p.Glu268Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.34113,1.36599,1.0255678653791738,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.2765,1.2321,-22.2096,loss_of_function,-4.04403926321912,0.4740682326286124,0.941139447539064,Pathogenic,0.9721,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268D,NP_000240:p.Glu268Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.02182,0.5585,0.3191691659200424,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.0694,1.2321,-1.9332,loss_of_function,-0.313262979826425,0.9346361833571388,6.799597374428672e-05,Benign,0.1031,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268F,NP_000240:p.Glu268Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.53522,-0.26531,-0.3055435945265516,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.2541,1.2321,-22.2096,loss_of_function,-4.86453180673069,0.3727776323223641,0.7836182328444417,Pathogenic,0.9679,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268G,NP_000240:p.Glu268Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.25178,2.12313,1.323058482238506,Uncertain,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90382,Benign,3,90.17,-,-0.2329,1.2321,-22.2096,loss_of_function,-5.34615675205919,0.31332056568529254,0.8783665999763505,Pathogenic,0.6231,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268H,NP_000240:p.Glu268His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.67607,0.46361,-0.1348872883788471,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.1725,1.2321,-7.9218,loss_of_function,-3.76080156394763,0.5090342013207645,0.1508114728692701,Benign,0.9116,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268I,NP_000240:p.Glu268Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47372,0.67245,-0.3073788228028778,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.2595,1.2321,-22.2096,loss_of_function,-4.03773675492798,0.47484628339006413,0.5133825028146974,Uncertain,0.8678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268K,NP_000240:p.Glu268Lys,"hg19,3:g.37059008G>A, hg38,3:g.37017517G>A",,,0.770,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22082,1.36293,0.358792155026626,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,2103180,Uncertain significance,1,90.17,-,-0.1532,1.2321,-7.3368,loss_of_function,-2.86734938723505,0.6193317391104731,0.2939906201383961,Benign,0.8446,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268L,NP_000240:p.Glu268Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34902,0.00034,-0.5416683135620259,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.2616,1.2321,-22.2096,loss_of_function,-4.65669836477353,0.3984348723131839,0.6666425766935188,Uncertain,0.8831,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268M,NP_000240:p.Glu268Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.60534,0.13299,-0.0348855115937085,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.1426,1.2321,-8.9217,loss_of_function,-3.86095414637082,0.4966702678809199,0.5780653009153853,Uncertain,0.9135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268N,NP_000240:p.Glu268Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.1788,0.56939,0.3201359165960188,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.1655,1.2321,-8.9217,loss_of_function,-2.21143991060433,0.7003044001783503,0.1792547314754515,Benign,0.5543,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268P,NP_000240:p.Glu268Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.64748,3.08844,3.356097254237336,Uncertain,Uncertain,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.3641,1.2321,-22.2096,loss_of_function,-5.34615675205919,0.31332056568529254,0.943583530710202,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268Q,NP_000240:p.Glu268Gln,"hg19,3:g.37059008G>C, hg38,3:g.37017517G>C",,,0.788,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06662,0.72483,0.4391191051152698,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,854430,Uncertain significance,1,90.17,-,-0.1118,1.2321,-8.9217,loss_of_function,-2.55721521499738,0.6576181034776492,0.4963030466764004,Uncertain,0.5743,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268R,NP_000240:p.Glu268Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14531,1.63163,0.0718927128573065,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.2896,1.2321,-22.2096,loss_of_function,-3.3257295742634,0.5627442604310435,0.4285777561209994,Uncertain,0.9013,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268S,NP_000240:p.Glu268Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57985,1.40068,0.7945440680846718,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.1409,1.2321,-6.5999,loss_of_function,-2.77117788060275,0.6312042048826191,0.1791483793284702,Benign,0.5302,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268T,NP_000240:p.Glu268Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.10982,0.7449,0.4827364731806255,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,90.17,-,-0.1525,1.2321,-5.7519,loss_of_function,-2.85968923636102,0.6202773921655834,0.3346773616096887,Uncertain,0.67,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268V,NP_000240:p.Glu268Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.06908,0.98571,-0.0916314975558324,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.17,-,-0.2203,1.2321,-22.2096,loss_of_function,-1.92810296355107,0.7352826211054241,0.3507378282254753,Uncertain,0.7138,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268W,NP_000240:p.Glu268Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.85496,-0.05442,-0.6001322520353991,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.2642,1.2321,-22.2096,loss_of_function,-4.86453180673069,0.3727776323223641,0.9159827628797006,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E268Y,NP_000240:p.Glu268Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22477,0.08435,-0.2402833307902774,Neutral,Neutral,False,0.062,,,,,,,Uncertain,Uncertain,Uncertain,55.1,,False,55.1,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,90.17,-,-0.255,1.2321,-22.2096,loss_of_function,-4.86453180673069,0.3727776323223641,0.708863001360279,Pathogenic,0.9356,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269A,NP_000240:p.Ser269Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.59314,-1.10952,0.2119785600798723,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,89.91,-,-0.1321,0.8739,-8.9217,loss_of_function,-2.62612950327927,0.6491105677481036,0.7854250100183785,Pathogenic,0.1934,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269C,NP_000240:p.Ser269Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.08692,-1.1398,0.7867630512676627,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.1506,0.8739,-2.6551,loss_of_function,-1.31743082084259,0.8106706894241371,0.0054325769715527,Benign,0.0897,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269D,NP_000240:p.Ser269Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47971,-0.16361,1.5778766842985998,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2986,0.8739,-22.2096,loss_of_function,-4.22372057369019,0.451886400574984,0.7895014821789055,Pathogenic,0.9036,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269E,NP_000240:p.Ser269Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.81156,-0.62551,1.1717869335774311,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2718,0.8739,-22.2096,loss_of_function,-4.4345149671065,0.4258636282546546,0.9598483520125438,Pathogenic,0.9691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269F,NP_000240:p.Ser269Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.25544,-2.7602,0.2013563014858743,Uncertain,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2102,0.8739,-8.9217,loss_of_function,-3.26257548485118,0.5705406940232132,0.8057677448013804,Pathogenic,0.7522,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269G,NP_000240:p.Ser269Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.68528,0.6881,1.8010326696436845,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,DOWN,neutral,neutral,neutral,,,,89.91,-,-0.2091,0.8739,-22.2096,loss_of_function,-5.60952149583673,0.28080793262398773,0.9511976190300508,Pathogenic,0.3266,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269H,NP_000240:p.Ser269His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.70679,-1.30612,0.6170481313067505,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2063,0.8739,-7.9218,loss_of_function,-3.55220792501973,0.5347852883649504,0.4639738947798355,Uncertain,0.7852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269I,NP_000240:p.Ser269Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.12899,-2.77007,-0.4206507686734023,Uncertain,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2811,0.8739,-22.2096,loss_of_function,-4.95428687270924,0.36169728237233917,0.9132300576192988,Pathogenic,0.5947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269K,NP_000240:p.Ser269Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.53526,-0.85238,0.9363368353607352,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2885,0.8739,-22.2096,loss_of_function,-5.60952149583673,0.28080793262398773,0.9765386893130134,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269L,NP_000240:p.Ser269Leu,"hg19,3:g.37059012C>T, hg38,3:g.37017521C>T",,,0.854,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-2.11966,-2.86803,-1.1704519481941371,Uncertain,Uncertain,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2774,0.8739,-22.2096,loss_of_function,-5.06178670708064,0.3484263235532627,0.8853711504126731,Pathogenic,0.3617,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269M,NP_000240:p.Ser269Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.53987,-2.69184,-0.4898254509406052,Uncertain,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2484,0.8739,-22.2096,loss_of_function,-5.06178670708064,0.3484263235532627,0.97140695295717,Pathogenic,0.4375,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269N,NP_000240:p.Ser269Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.69993,-1.5017,0.1743612439565317,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.1401,0.8739,-6.1145,loss_of_function,-2.70792908456467,0.6390123300996086,0.2319829722477673,Benign,0.3414,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269P,NP_000240:p.Ser269Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.17817,1.03333,4.1743275079831,Neutral,Uncertain,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,187298,Uncertain significance,2,89.91,-,-0.3534,0.8739,-22.2096,loss_of_function,-5.60952149583673,0.28080793262398773,0.9536329428067885,Pathogenic,0.9855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269Q,NP_000240:p.Ser269Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4217,-1.60306,0.176537115469465,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2419,0.8739,-22.2096,loss_of_function,-4.4345149671065,0.4258636282546546,0.9549307280912886,Pathogenic,0.9375,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269R,NP_000240:p.Ser269Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7283,-0.64966,0.1346558406239517,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.226,0.8739,-8.9217,loss_of_function,-5.60952149583673,0.28080793262398773,0.9634983962160932,Pathogenic,0.9917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269T,NP_000240:p.Ser269Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.86942,-0.90578,0.2740465958850752,Neutral,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,neutral,,,UP,neutral,mixed_effects,neutral,578391,Uncertain significance,2,89.91,-,-0.1906,0.8739,-22.2096,loss_of_function,-3.37520875573651,0.556636007487484,0.7942811599845665,Pathogenic,0.2977,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269V,NP_000240:p.Ser269Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.55987,-2.33299,-0.3238662899211425,Uncertain,Neutral,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.1825,0.8739,-7.9218,loss_of_function,-4.17827499509584,0.45749670133090004,0.6491066338881007,Uncertain,0.4731,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269W,NP_000240:p.Ser269Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.60582,-1.76088,0.5700845823521286,Uncertain,Uncertain,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2877,0.8739,-22.2096,loss_of_function,-3.81428221396653,0.5024319632041346,0.8496183915956816,Pathogenic,0.8506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S269Y,NP_000240:p.Ser269Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.05127,-0.90952,0.8494162555199075,Uncertain,Uncertain,False,0.049,,,,,,,,,,17.7,,False,17.7,,uncertain,,,UP,neutral,mixed_effects,neutral,,,,89.91,-,-0.2828,0.8739,-22.2096,loss_of_function,-4.53802213821618,0.41308556758778986,0.9611331677621312,Pathogenic,0.6199,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270A,NP_000240:p.Thr270Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14224,-0.06463,-0.0119502181987285,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,DOWN,neutral,neutral,neutral,230184,Conflicting classifications of pathogenicity,1,89.97,H,0.0162,2.6294,-3.2214,gain_of_function,-0.0568146718316097,0.9662949757126968,0.0044425549170046,Benign,0.0531,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270C,NP_000240:p.Thr270Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.04502,0.35238,0.6508086650698935,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,89.97,H,-0.0487,2.6294,-8.9217,loss_of_function,-2.1190382667108,0.7117114727389406,0.8531880467978168,Pathogenic,0.2162,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270D,NP_000240:p.Thr270Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14503,-1.03639,-0.1698145549271951,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,89.97,H,-0.109,2.6294,-5.1145,loss_of_function,-1.63590921883616,0.771354222294188,0.0759943416961374,Benign,0.6199,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270E,NP_000240:p.Thr270Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.60041,-0.70986,-0.3483122935387872,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0987,2.6294,-7.9218,loss_of_function,-1.69561558259278,0.7639834137782104,0.2062715612814374,Benign,0.6464,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270F,NP_000240:p.Thr270Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27757,-0.33435,-0.6091136547293069,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.1879,2.6294,-22.2096,loss_of_function,-2.88391743214844,0.6172863978962851,0.4844602666502147,Uncertain,0.1992,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270G,NP_000240:p.Thr270Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.10177,0.85136,0.5832797582292795,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,89.97,H,-0.072,2.6294,-6.1145,loss_of_function,-1.91403478325933,0.737019351607408,0.066508466067569,Benign,0.0843,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270H,NP_000240:p.Thr270His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.24411,0.2915,-0.4926462216417898,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.1682,2.6294,-22.2096,loss_of_function,-2.27596399687729,0.692338839144939,0.2018802668609318,Benign,0.2973,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270I,NP_000240:p.Thr270Ile,"hg19,3:g.37059015C>T, hg38,3:g.37017524C>T",,,0.522,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.61139,0.42143,-0.6426369367224849,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0388,2.6294,-8.9217,loss_of_function,-1.46813638341809,0.7920659415522902,0.1571213887691885,Benign,0.1075,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270K,NP_000240:p.Thr270Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.55845,-0.14796,-0.2220473360080982,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0858,2.6294,-6.9218,loss_of_function,-1.95056779202655,0.7325093162411048,0.0361614501904902,Benign,0.6047,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270L,NP_000240:p.Thr270Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.87165,-0.75272,-0.8391995091462812,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0738,2.6294,-5.5999,loss_of_function,-1.65361787566218,0.7691680714330869,0.0220359891256423,Benign,0.0717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270M,NP_000240:p.Thr270Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.72821,-0.5398,-0.4384679669158015,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0577,2.6294,-8.9217,loss_of_function,-2.74593559117404,0.6343203899955212,0.3942814435571011,Uncertain,0.0787,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270N,NP_000240:p.Thr270Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.22321,-0.45748,-0.1150595505972418,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,-,uncertain,uncertain,neutral,1938597,Uncertain significance,2,89.97,H,-0.0464,2.6294,-4.5999,loss_of_function,-0.45623156116628,0.9169865733230624,0.0268777907597027,Benign,0.0821,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270P,NP_000240:p.Thr270Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.75181,-0.10102,0.7652498032081406,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,89.97,H,-0.1515,2.6294,-3.8774,loss_of_function,-0.560108589537633,0.9041628534185133,0.0090508865608383,Benign,0.0696,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270Q,NP_000240:p.Thr270Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28043,-0.22109,-0.0579477166691755,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0563,2.6294,-4.6739,loss_of_function,-1.3648609568021,0.8048153931366359,0.0045342195558254,Benign,0.3047,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270R,NP_000240:p.Thr270Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.23703,0.66565,-0.4480002484373613,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0907,2.6294,-7.3368,loss_of_function,-2.02637429527628,0.7231509298889022,0.195963243435349,Benign,0.5929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270S,NP_000240:p.Thr270Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02305,0.10544,0.0769239479738032,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,neutral,,,DOWN,neutral,neutral,neutral,"2452036, 2005643","Uncertain significance, Uncertain significance","1, 1",89.97,H,0.0613,2.6294,-1.4872,gain_of_function,-0.0707958614301426,0.9645689842961632,9.442156919455516e-05,Benign,0.0635,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270V,NP_000240:p.Thr270Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0788,0.24014,-0.4837429997792752,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.0161,2.6294,-6.9218,loss_of_function,-2.03025432581271,0.722671936355872,0.0350818316350839,Benign,0.0818,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270W,NP_000240:p.Thr270Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20983,-0.44286,-0.9680235942423216,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.1808,2.6294,-22.2096,loss_of_function,-3.07672047187609,0.5934846756389424,0.6120085829862347,Uncertain,0.6436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T270Y,NP_000240:p.Thr270Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.1733,-0.52143,-0.4657377188797673,Neutral,Neutral,False,0.035,,,,,,,Uncertain,Uncertain,Uncertain,90.8,,False,90.8,,uncertain,,,UP,neutral,neutral,neutral,,,,89.97,H,-0.1894,2.6294,-22.2096,loss_of_function,-2.56806123976032,0.6562791512009194,0.1716859278131301,Benign,0.3327,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271A,NP_000240:p.Ser271Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79118,-0.05374,0.0104663196199039,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,90.77,H,0.0653,2.6018,-1.3827,gain_of_function,-0.0933375382584608,0.9617861924281497,7.40333487634691e-05,Benign,0.0459,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271C,NP_000240:p.Ser271Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.50523,0.47075,0.6530453485904225,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,2703637,Uncertain significance,1,90.77,H,-0.0914,2.6018,-22.2096,loss_of_function,-2.65095620192635,0.646045687720282,0.4920324100689713,Uncertain,0.0857,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271D,NP_000240:p.Ser271Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.92375,0.79286,0.1374226551469637,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0667,2.6018,-7.9218,loss_of_function,-2.57409689981914,0.6555340431125682,0.1599669457149927,Benign,0.6538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271E,NP_000240:p.Ser271Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39621,0.63299,0.0044924395965945,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.1128,2.6018,-22.2096,loss_of_function,-2.69151458932388,0.6410387154577836,0.3139924921668903,Benign,0.7195,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271F,NP_000240:p.Ser271Phe,"hg19,3:g.37059018C>T, hg38,3:g.37017527C>T",,,0.664,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06088,0.38571,-0.3779107649388002,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,1515545,Uncertain significance,2,90.77,H,-0.119,2.6018,-22.2096,loss_of_function,-3.40670943801026,0.5527472177077394,0.4236528543958374,Uncertain,0.1664,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271G,NP_000240:p.Ser271Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.98728,1.03605,0.7201017327355119,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,90.77,H,0.0354,2.6018,-5.4624,gain_of_function,-1.34990176690703,0.8066621196383563,0.0036064263209696,Benign,0.0645,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271H,NP_000240:p.Ser271His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63628,0.03673,-0.3496716106163439,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0443,2.6018,-7.3368,loss_of_function,-2.73584737886388,0.6355657895899401,0.1307242458971748,Benign,0.4169,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271I,NP_000240:p.Ser271Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.51848,0.10204,-0.2129973373035326,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0425,2.6018,-6.5999,loss_of_function,-1.89340946458314,0.7395655672028327,0.1074507525563197,Benign,0.1272,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271K,NP_000240:p.Ser271Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06556,0.06769,-0.2268354960175228,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0474,2.6018,-6.1145,loss_of_function,-2.19551032260508,0.7022709232672374,0.2629674339679635,Benign,0.8199,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271L,NP_000240:p.Ser271Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31296,-0.12449,-0.5949048435179843,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0362,2.6018,-6.1145,loss_of_function,-2.17003919448137,0.705415358738992,0.0211915892923667,Benign,0.0758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271M,NP_000240:p.Ser271Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4274,-0.23707,-0.2551341357185133,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0216,2.6018,-8.9217,loss_of_function,-1.0775408856977,0.840285334591123,0.1041762857652952,Benign,0.1331,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271N,NP_000240:p.Ser271Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22322,-0.31054,-0.0214509129847867,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,0.0314,2.6018,-3.6739,gain_of_function,-1.55658754762595,0.7811465595405334,0.0007548369779613,Benign,0.1466,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271P,NP_000240:p.Ser271Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.23778,4.08571,2.1895850826913845,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.1008,2.6018,-3.8774,loss_of_function,-1.81177647148103,0.7496432393785238,0.0067559757730142,Benign,0.1059,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271Q,NP_000240:p.Ser271Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12408,0.50068,0.0163438771466395,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0151,2.6018,-8.9217,loss_of_function,-2.39098407854796,0.6781394985027511,0.1505903346919851,Benign,0.5122,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271R,NP_000240:p.Ser271Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03625,-0.26122,-0.4149142227348162,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0404,2.6018,-3.7124,loss_of_function,-2.14320358426118,0.7087282408489917,0.2760597156699126,Benign,0.7832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271T,NP_000240:p.Ser271Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24604,0.22143,0.0661015020599969,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,neutral,,,UP,neutral,neutral,neutral,,,,90.77,H,0.0531,2.6018,-5.5999,gain_of_function,-0.456603613331504,0.9169406431224059,0.0166853814207876,Benign,0.0727,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271V,NP_000240:p.Ser271Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.75392,0.42279,-0.1413601149517612,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.0124,2.6018,-5.7519,loss_of_function,-1.67166421195863,0.76694023371384,0.0354604634480014,Benign,0.1006,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271W,NP_000240:p.Ser271Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2415,0.27313,-0.7561091332697362,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.1287,2.6018,-22.2096,loss_of_function,-3.40670943801026,0.5527472177077394,0.6567884458394057,Uncertain,0.3948,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S271Y,NP_000240:p.Ser271Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09231,-0.69558,-0.2964934551800535,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,46.9,,False,46.9,,uncertain,,,UP,neutral,neutral,neutral,,,,90.77,H,-0.056,2.6018,-8.9217,loss_of_function,-2.89695964990606,0.615676323464237,0.2216535945535222,Benign,0.221,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272A,NP_000240:p.Leu272Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77949,3.0034,3.856607848545315,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.2973,1.3261,-22.2096,loss_of_function,-4.79809544809682,0.38097926523347536,0.7144915676368633,Pathogenic,0.7599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272C,NP_000240:p.Leu272Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.67306,2.8551,4.025130393918939,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.2866,1.3261,-22.2096,loss_of_function,-4.79809544809682,0.38097926523347536,0.7965968714649587,Pathogenic,0.8018,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272D,NP_000240:p.Leu272Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.23019,3.89592,4.884406989879307,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.4189,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.9612855097854512,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272E,NP_000240:p.Leu272Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.20925,2.44082,4.211578063687616,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3869,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.9650183252787334,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272F,NP_000240:p.Leu272Phe,"hg19,3:g.37059022G>C",,,0.675,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.62234,0.68333,2.3375881835088994,Neutral,Uncertain,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1762277,Uncertain significance,1,91.22,H,-0.163,1.3261,-8.9217,loss_of_function,-3.58757956933331,0.5304186245668764,0.5015453407916889,Uncertain,0.2449,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272G,NP_000240:p.Leu272Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.30162,5.10782,5.745567603359914,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3722,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.8687196933011752,Pathogenic,0.9666,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272H,NP_000240:p.Leu272His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.44058,1.53844,3.371003642055269,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3397,1.3261,-22.2096,loss_of_function,-4.51434586617962,0.4160084263347242,0.9581036284013886,Pathogenic,0.9629,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272I,NP_000240:p.Leu272Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85041,0.89626,1.7715103291135292,Neutral,Neutral,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.22,H,-0.0673,1.3261,-1.7926,loss_of_function,-1.41175875375269,0.7990258146161104,0.0016440952560727,Benign,0.108,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272K,NP_000240:p.Leu272Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.42452,5.05136,5.7195991038780924,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.22,H,-0.3859,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.958512346293951,Pathogenic,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272M,NP_000240:p.Leu272Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34845,1.12857,2.047450505910096,Neutral,Uncertain,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.22,H,-0.1032,1.3261,-4.278,loss_of_function,-0.127982544071563,0.9575092328577387,0.0302242464376175,Benign,0.1248,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272N,NP_000240:p.Leu272Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.28128,3.07415,3.7501821466999057,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3652,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.9604911346517616,Pathogenic,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272P,NP_000240:p.Leu272Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.1624,8.15612,9.761831682876805,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3129,1.3261,-8.9217,loss_of_function,-5.15614755568686,0.33677738527062456,0.957138153706788,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272Q,NP_000240:p.Leu272Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.70043,2.0119,3.4600721850219327,Uncertain,Uncertain,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3181,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.9629765831415084,Pathogenic,0.9307,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272R,NP_000240:p.Leu272Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.01589,5.36259,4.561228920530196,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.22,H,-0.3775,1.3261,-22.2096,loss_of_function,-5.15614755568686,0.33677738527062456,0.9661938698192694,Pathogenic,0.9804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272S,NP_000240:p.Leu272Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.84504,3.83129,4.904092643859033,Destabilizing,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3277,1.3261,-22.2096,loss_of_function,-4.79809544809682,0.38097926523347536,0.9119347083594156,Pathogenic,0.9227,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272T,NP_000240:p.Leu272Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.49999,2.10544,3.6903609422400985,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.22,H,-0.3005,1.3261,-22.2096,loss_of_function,-4.06669911589779,0.4712708518372521,0.6998607294668963,Pathogenic,0.7767,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272V,NP_000240:p.Leu272Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.13372,0.89762,2.260508367988214,Uncertain,Uncertain,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90385,Uncertain significance,2,91.22,H,-0.1216,1.3261,-5.3369,loss_of_function,-1.75332974689656,0.7568585442169541,0.2328581089004301,Benign,0.1216,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272W,NP_000240:p.Leu272Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.15376,2.28367,3.6732379369293215,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.22,H,-0.3299,1.3261,-22.2096,loss_of_function,-4.51434586617962,0.4160084263347242,0.9634149216413356,Pathogenic,0.8128,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L272Y,NP_000240:p.Leu272Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.176,1.53435,3.4403304602114213,Uncertain,Destabilizing,False,0.053,,,,,,,,,,1.6,,False,1.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.22,H,-0.3228,1.3261,-22.2096,loss_of_function,-4.51434586617962,0.4160084263347242,0.9492868798239632,Pathogenic,0.9135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273A,NP_000240:p.Arg273Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37783,0.35884,1.2985524026911506,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.2325,1.1335,-7.9218,loss_of_function,-3.4124092426977,0.5520435712907369,0.7403883781446341,Pathogenic,0.9061,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273C,NP_000240:p.Arg273Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.12704,0.81565,1.9908170830144545,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3143,1.1335,-22.2096,loss_of_function,-4.00905289540525,0.47838733366911096,0.9672327119298776,Pathogenic,0.4676,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273D,NP_000240:p.Arg273Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.86221,2.17823,2.1081533554220564,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3965,1.1335,-22.2096,loss_of_function,-4.12632820097464,0.463909583449246,0.9513133960765896,Pathogenic,0.9902,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273E,NP_000240:p.Arg273Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7864,0.96327,1.646097777259955,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3417,1.1335,-22.2096,loss_of_function,-4.12632820097464,0.463909583449246,0.898964285329791,Pathogenic,0.9197,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273F,NP_000240:p.Arg273Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.61328,0.73537,0.3386441900259096,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.58,H,-0.3376,1.1335,-22.2096,loss_of_function,-4.4894514712547,0.4190816635337048,0.9169641439043223,Pathogenic,0.9561,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273G,NP_000240:p.Arg273Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.46647,1.67925,2.498994737786637,Neutral,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3408,1.1335,-22.2096,loss_of_function,-4.97499497164698,0.3591408474733359,0.9345574661876968,Pathogenic,0.7762,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273H,NP_000240:p.Arg273His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54838,1.08401,0.978766018174692,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.2752,1.1335,-22.2096,loss_of_function,-3.63412386408637,0.524672686235504,0.90224999296299,Pathogenic,0.3613,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273I,NP_000240:p.Arg273Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88931,1.40476,0.2759323267415808,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3348,1.1335,-22.2096,loss_of_function,-4.80204088715366,0.38049219695515973,0.8985987734676455,Pathogenic,0.8667,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273K,NP_000240:p.Arg273Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02472,0.07177,1.3127814076291668,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.58,H,-0.0874,1.1335,-0.997,loss_of_function,-0.0893472160476541,0.9622788015753554,0.0007883322424868,Benign,0.0772,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273L,NP_000240:p.Arg273Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.65299,-0.64898,-0.0465275911149282,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3079,1.1335,-22.2096,loss_of_function,-3.67141189416079,0.5200694427565189,0.9173240099940108,Pathogenic,0.7983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273M,NP_000240:p.Arg273Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.17724,-0.44898,0.6207606059210424,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.2737,1.1335,-22.2096,loss_of_function,-4.80204088715366,0.38049219695515973,0.9085353714386792,Pathogenic,0.8188,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273N,NP_000240:p.Arg273Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.38145,0.67211,1.52607963709437,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3203,1.1335,-22.2096,loss_of_function,-4.12632820097464,0.463909583449246,0.8611008718682625,Pathogenic,0.9707,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273P,NP_000240:p.Arg273Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.59687,7.8983,6.62878495621182,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3797,1.1335,-8.9217,loss_of_function,-4.97499497164698,0.3591408474733359,0.986788243846366,Pathogenic,0.9797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273Q,NP_000240:p.Arg273Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.04859,-0.62075,1.2842864362028512,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.2021,1.1335,-6.9218,loss_of_function,-2.94119828631975,0.6102150208911572,0.821394673949521,Pathogenic,0.301,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273S,NP_000240:p.Arg273Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.29541,1.53639,1.9210944516475164,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1762375,Uncertain significance,1,92.58,H,-0.306,1.1335,-22.2096,loss_of_function,-3.82219266716439,0.5014554100843749,0.8165950292529653,Pathogenic,0.9476,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273T,NP_000240:p.Arg273Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.04524,1.1881,1.3899877111377008,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3103,1.1335,-22.2096,loss_of_function,-4.00905289540525,0.47838733366911096,0.8604086362485435,Pathogenic,0.9088,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273V,NP_000240:p.Arg273Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.12472,1.00782,0.5656740909027974,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.58,H,-0.3219,1.1335,-22.2096,loss_of_function,-4.80204088715366,0.38049219695515973,0.903982521786624,Pathogenic,0.8797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273W,NP_000240:p.Arg273Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.34122,-0.29932,0.0385541430242153,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.58,H,-0.2553,1.1335,-8.9217,loss_of_function,-4.4894514712547,0.4190816635337048,0.9911549476998672,Pathogenic,0.6368,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R273Y,NP_000240:p.Arg273Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.11478,2.96565,0.5774974836086113,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,32.2,,False,32.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.58,H,-0.3269,1.1335,-22.2096,loss_of_function,-4.34949966044595,0.43635885031969884,0.9124167156690388,Pathogenic,0.8794,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274A,NP_000240:p.Lys274Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.06011,0.14694,0.1422484277506641,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.1611,1.0149,-8.9217,loss_of_function,-3.24752286735552,0.5723989542528434,0.2977916942338293,Benign,0.914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274C,NP_000240:p.Lys274Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.75364,0.7051,0.992007397771006,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.2992,1.0149,-22.2096,loss_of_function,-3.33673677522308,0.5613854107964986,0.963679076224018,Pathogenic,0.9322,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274D,NP_000240:p.Lys274Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76836,-0.82075,0.5258615193808366,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.338,1.0149,-22.2096,loss_of_function,-4.2619122174871,0.4471716051055272,0.8060053567884742,Pathogenic,0.9791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274E,NP_000240:p.Lys274Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21628,0.16531,0.1358720748731712,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.2539,1.0149,-22.2096,loss_of_function,-4.18916419897208,0.45615241855075334,0.8076448341014122,Pathogenic,0.8927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274F,NP_000240:p.Lys274Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.03181,0.04524,-0.1740258474343348,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.0,H,-0.3001,1.0149,-22.2096,loss_of_function,-3.92391851817583,0.4888972551113708,0.8457268221814918,Pathogenic,0.9866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274G,NP_000240:p.Lys274Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.77985,1.14184,1.0442654556562303,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.2882,1.0149,-22.2096,loss_of_function,-4.06588760235265,0.47137103397150054,0.4383003898165367,Uncertain,0.904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274H,NP_000240:p.Lys274His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.18367,-0.43503,-0.0258326803178998,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.239,1.0149,-22.2096,loss_of_function,-3.21343452049988,0.5766071937350425,0.7228911916071241,Pathogenic,0.6465,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274I,NP_000240:p.Lys274Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02409,-0.12279,-0.3755621270853032,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.0,H,-0.2673,1.0149,-22.2096,loss_of_function,-4.94075449699857,0.36336786727910386,0.91319038803352,Pathogenic,0.9376,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274L,NP_000240:p.Lys274Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2974,-0.52177,-0.4790372791241293,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.0,H,-0.1982,1.0149,-8.9217,loss_of_function,-4.77501385244036,0.38382871060449963,0.8201198031419848,Pathogenic,0.8942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274M,NP_000240:p.Lys274Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.1959,0.04014,-0.0543575730735906,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.239,1.0149,-22.2096,loss_of_function,-4.94075449699857,0.36336786727910386,0.9357681909108896,Pathogenic,0.839,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274N,NP_000240:p.Lys274Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.12976,0.18027,0.3523345939022831,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.2472,1.0149,-22.2096,loss_of_function,-3.41074610750535,0.5522488869433357,0.6053544736782626,Uncertain,0.9267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274P,NP_000240:p.Lys274Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.45247,6.9483,6.122572573738947,Uncertain,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.4033,1.0149,-22.2096,loss_of_function,-5.31045147722202,0.31772841649509764,0.9822022198181396,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274Q,NP_000240:p.Lys274Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.01683,0.28333,0.2725116922761517,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.1553,1.0149,-7.9218,loss_of_function,-3.1070193910333,0.5897442446815451,0.4188413525853632,Uncertain,0.4962,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274R,NP_000240:p.Lys274Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.05226,0.3102,-0.272167314349041,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,418300,Uncertain significance,2,92.0,H,-0.0601,1.0149,-2.1274,loss_of_function,-0.0966054514075097,0.9613827653802947,0.0211246285961443,Benign,0.0816,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274S,NP_000240:p.Lys274Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.17391,0.40952,0.626591048458365,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.1662,1.0149,-7.9218,loss_of_function,-3.2917368780792,0.5669406917450802,0.1809914597833191,Benign,0.9379,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274T,NP_000240:p.Lys274Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37468,0.00544,0.2066502346054272,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.1688,1.0149,-6.1145,loss_of_function,-2.78892034016077,0.6290138810414666,0.110682738074875,Benign,0.8368,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274V,NP_000240:p.Lys274Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48396,-0.07789,-0.235946026294499,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.0,H,-0.1834,1.0149,-8.9217,loss_of_function,-4.94075449699857,0.36336786727910386,0.7575629243220419,Pathogenic,0.9087,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274W,NP_000240:p.Lys274Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30913,0.08367,-0.6835293825958372,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.0,H,-0.3091,1.0149,-22.2096,loss_of_function,-4.4218191784485,0.4274309356783472,0.9693833492495572,Pathogenic,0.9535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K274Y,NP_000240:p.Lys274Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.06431,-0.17279,-0.0846976437474672,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,82.9,,False,82.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.0,H,-0.2849,1.0149,-22.2096,loss_of_function,-4.4218191784485,0.4274309356783472,0.8026990467011345,Pathogenic,0.9499,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275C,NP_000240:p.Ala275Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58682,1.12415,0.996244830682712,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.1378,1.3363,-6.5999,loss_of_function,-1.66489085972956,0.7677764106161088,0.0311985236653229,Benign,0.452,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275D,NP_000240:p.Ala275Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.15872,1.93571,1.4226714062332126,Uncertain,Uncertain,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2992,1.3363,-22.2096,loss_of_function,-5.10393844526927,0.3432226505901848,0.796914514829506,Pathogenic,0.8308,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275E,NP_000240:p.Ala275Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.18917,1.03776,0.7578430144682757,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2849,1.3363,-22.2096,loss_of_function,-4.74010194483077,0.3881386194605595,0.7051034647452965,Pathogenic,0.7699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275F,NP_000240:p.Ala275Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.50836,1.03605,-0.0948211653770442,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2676,1.3363,-22.2096,loss_of_function,-5.51051085549851,0.2930308922058537,0.7554166825373763,Pathogenic,0.6229,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275G,NP_000240:p.Ala275Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77986,1.25612,1.6411951289740137,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.46,H,-0.1238,1.3363,-5.1145,loss_of_function,-1.70630180903134,0.7626641887596165,0.0446245021646114,Benign,0.1666,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275H,NP_000240:p.Ala275His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04506,1.66054,0.2540581375444367,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2717,1.3363,-22.2096,loss_of_function,-5.51051085549851,0.2930308922058537,0.7543482393136478,Pathogenic,0.7883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275I,NP_000240:p.Ala275Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09223,0.52211,0.2119284728209608,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.1791,1.3363,-6.9218,loss_of_function,-3.0883840376262,0.5920447971343994,0.0816975703830682,Benign,0.4125,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275K,NP_000240:p.Ala275Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.54043,0.97449,0.4736333588847713,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2217,1.3363,-8.9217,loss_of_function,-4.96442095848162,0.36044621965451584,0.7688301237512188,Pathogenic,0.8942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275L,NP_000240:p.Ala275Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.67294,-0.12687,-0.0377157918563392,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2619,1.3363,-22.2096,loss_of_function,-4.40516136388948,0.42948735904235735,0.6783949499747982,Uncertain,0.3912,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275M,NP_000240:p.Ala275Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.23503,0.59796,0.1830925823856088,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.1297,1.3363,-4.3983,loss_of_function,-2.5214105451941,0.6620382246924255,0.0189567730314592,Benign,0.2968,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275N,NP_000240:p.Ala275Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4221,1.08878,0.6620087384530382,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.1937,1.3363,-7.3368,loss_of_function,-4.13582467994708,0.4627372339093009,0.3151611603487906,Benign,0.4822,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275P,NP_000240:p.Ala275Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.05657,4.7,6.73097964503929,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.3389,1.3363,-22.2096,loss_of_function,-4.23445101041513,0.4505617177536561,0.6859848604280425,Pathogenic,0.9641,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275Q,NP_000240:p.Ala275Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45894,0.68027,0.5725745999973447,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2671,1.3363,-22.2096,loss_of_function,-5.10393844526927,0.3432226505901848,0.6958905023564359,Pathogenic,0.6808,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275R,NP_000240:p.Ala275Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71519,0.63231,0.0946307576639216,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.3002,1.3363,-22.2096,loss_of_function,-4.67683592515066,0.3959488709528632,0.5657881826196531,Uncertain,0.855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275S,NP_000240:p.Ala275Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.49357,0.78163,1.0758914310821794,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.46,H,-0.0864,1.3363,-3.43,loss_of_function,-0.886333793048155,0.8638900356337375,0.0083075406846592,Benign,0.1075,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275T,NP_000240:p.Ala275Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.82887,0.60442,0.7708874664077927,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.105,1.3363,-5.9218,loss_of_function,-1.68508252472512,0.7652837299881659,0.0148912134789413,Benign,0.134,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275V,NP_000240:p.Ala275Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.42466,0.47619,0.173578056385793,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2749201,Uncertain significance,1,92.46,H,-0.103,1.3363,-6.1145,loss_of_function,-2.52015030732408,0.6621938022798056,0.0533194374441164,Benign,0.1792,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275W,NP_000240:p.Ala275Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.25745,2.26327,-0.4362798231415243,Uncertain,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2785,1.3363,-22.2096,loss_of_function,-5.51051085549851,0.2930308922058537,0.8621954904413185,Pathogenic,0.9304,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A275Y,NP_000240:p.Ala275Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01388,1.01054,0.0445119541709337,Neutral,Neutral,False,0.081,,,,,,,,,,18.2,,False,18.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.46,H,-0.2868,1.3363,-22.2096,loss_of_function,-5.51051085549851,0.2930308922058537,0.66108776647964,Uncertain,0.7595,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276A,NP_000240:p.Ile276Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.93031,3.30476,3.525862337611445,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.2682,1.7161,-22.2096,loss_of_function,-2.69738839129666,0.640313588907143,0.4892937159990006,Uncertain,0.2598,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276C,NP_000240:p.Ile276Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77339,2.48776,3.56402954579868,Uncertain,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.1642,1.7161,-5.7519,loss_of_function,-2.27302256495449,0.6927019617687539,0.1247419898867464,Benign,0.7306,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276D,NP_000240:p.Ile276Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.83008,3.78129,4.74875835709994,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3923,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.8961122069664542,Pathogenic,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276E,NP_000240:p.Ile276Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.59399,4.13333,4.221459257528692,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3732,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.9007908665683,Pathogenic,0.9832,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276F,NP_000240:p.Ile276Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.87677,4.58537,1.7331607891929923,Destabilizing,Uncertain,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.43,H,-0.1461,1.7161,-5.9218,loss_of_function,-2.93536063346118,0.610935684798587,0.231236102607199,Benign,0.3246,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276G,NP_000240:p.Ile276Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.58421,5.20918,5.486757784924074,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3589,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.9011350426877212,Pathogenic,0.8519,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276H,NP_000240:p.Ile276His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.99051,4.79082,3.1428271264931538,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3588,1.7161,-22.2096,loss_of_function,-3.63934861633253,0.5240276855031389,0.8788638051360965,Pathogenic,0.9764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276K,NP_000240:p.Ile276Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.21616,7.22143,5.389169155752668,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.43,H,-0.3657,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.9184350304695008,Pathogenic,0.9779,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276L,NP_000240:p.Ile276Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.31352,-0.11871,0.93959593139475,Neutral,Neutral,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.43,H,-0.0508,1.7161,-2.1017,loss_of_function,-0.476511205758516,0.9144830315285769,0.0007337238733111,Benign,0.1243,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276M,NP_000240:p.Ile276Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12422,2.20748,1.6732691721344888,Uncertain,Neutral,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,853970,Conflicting classifications of pathogenicity,1,92.43,H,-0.077,1.7161,-6.1145,loss_of_function,-0.719601462118134,0.8844733036035867,0.0984542228120593,Benign,0.0948,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276N,NP_000240:p.Ile276Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.41566,2.64864,3.2740370008522133,Uncertain,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3054,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.8920182928335837,Pathogenic,0.9299,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276P,NP_000240:p.Ile276Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.86665,9.36633,8.941671495097557,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.4123,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.9283461521791924,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276Q,NP_000240:p.Ile276Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.47305,3.0,3.0713826035248246,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3329,1.7161,-22.2096,loss_of_function,-4.46624783476671,0.42194617496375086,0.9275016986293528,Pathogenic,0.9614,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276R,NP_000240:p.Ile276Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",9.38447,5.64388,4.374753510409802,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,520540,Pathogenic,3,92.43,H,-0.3247,1.7161,-8.9217,loss_of_function,-4.46624783476671,0.42194617496375086,0.9073647999041446,Pathogenic,0.9709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276S,NP_000240:p.Ile276Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.39833,4.15578,4.612472206415696,Destabilizing,Destabilizing,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.43,H,-0.3088,1.7161,-22.2096,loss_of_function,-3.46260801443328,0.5458464842313326,0.796358327820619,Pathogenic,0.6503,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276T,NP_000240:p.Ile276Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.75662,2.71531,3.2644737676390165,Uncertain,Uncertain,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,449833,Uncertain significance,2,92.43,H,-0.1578,1.7161,-8.9217,loss_of_function,-2.89436851969796,0.6159962010016085,0.4609735676486627,Uncertain,0.202,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276V,NP_000240:p.Ile276Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.55407,0.61531,1.3347310867801323,Neutral,Neutral,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,233420,Uncertain significance,2,92.43,H,-0.0137,1.7161,-2.6364,loss_of_function,-0.261238949248108,0.9410586003910287,0.0026205395755082,Benign,0.0522,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276W,NP_000240:p.Ile276Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.74042,5.25952,2.9800064094138192,Destabilizing,Uncertain,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.43,H,-0.3181,1.7161,-22.2096,loss_of_function,-3.63934861633253,0.5240276855031389,0.8994022212824573,Pathogenic,0.9619,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I276Y,NP_000240:p.Ile276Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.39174,6.53435,2.9436762948131205,Destabilizing,Uncertain,False,0.086,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.43,H,-0.327,1.7161,-22.2096,loss_of_function,-3.63934861633253,0.5240276855031389,0.9069443747690074,Pathogenic,0.9317,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277A,NP_000240:p.Glu277Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28208,0.31769,0.2660059090523137,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.1645,0.959,-8.9217,loss_of_function,-4.2023335970376,0.4545266435863405,0.4883755324249972,Uncertain,0.7073,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277C,NP_000240:p.Glu277Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.52963,0.25,1.1776911007423323,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.3016,0.959,-22.2096,loss_of_function,-5.0347241512944,0.35176722231350954,0.9316116398668604,Pathogenic,0.9784,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277D,NP_000240:p.Glu277Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.66183,0.82959,0.8322331355905754,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.1015,0.959,-3.3071,loss_of_function,-1.57247057845604,0.7791857839793357,0.0006312718431038,Benign,0.3359,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277F,NP_000240:p.Glu277Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.36755,-0.40272,-0.8076028690120973,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2114,0.959,-8.9217,loss_of_function,-3.86281863229498,0.49644009528518557,0.63738339717281,Uncertain,0.9787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277G,NP_000240:p.Glu277Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.32648,1.70102,1.351438956970361,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1723390,Uncertain significance,1,91.57,H,-0.1902,0.959,-8.9217,loss_of_function,-4.78339935206018,0.3827935125431933,0.5472123748099033,Uncertain,0.6359,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277H,NP_000240:p.Glu277His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.26863,0.49694,-0.1504548804019678,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2705,0.959,-22.2096,loss_of_function,-4.49631392018587,0.41823448755714526,0.7255954078879133,Pathogenic,0.9535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277I,NP_000240:p.Glu277Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.052,-0.77551,-0.3969103632916931,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2117,0.959,-7.9218,loss_of_function,-3.99312100986821,0.48035414039126667,0.4782371079532035,Uncertain,0.9091,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277K,NP_000240:p.Glu277Lys,"hg19,3:g.37059035G>A, hg38,3:g.37017544G>A",,,0.894,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.41616,0.64388,0.3740543615640224,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,485796,Uncertain significance,1,91.57,H,-0.1865,0.959,-8.9217,loss_of_function,-4.36542811643952,0.43439246697801087,0.389336988485583,Uncertain,0.8353,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277L,NP_000240:p.Glu277Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.32437,-0.68129,-1.0068500518817496,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2189,0.959,-8.9217,loss_of_function,-4.26471005258133,0.4468262096494764,0.5551435249976626,Uncertain,0.8779,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277M,NP_000240:p.Glu277Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.4133,-0.35612,-0.4414625011321144,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2355,0.959,-22.2096,loss_of_function,-5.09223101014455,0.344667944811573,0.6874546328797384,Pathogenic,0.8911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277N,NP_000240:p.Glu277Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.69812,0.37823,0.5161631790962192,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.1826,0.959,-7.3368,loss_of_function,-2.3098391911078,0.6881569135610525,0.1617536146332124,Benign,0.7704,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277P,NP_000240:p.Glu277Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.74633,11.35238,6.438922990800456,Destabilizing,Destabilizing,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.3892,0.959,-22.2096,loss_of_function,-6.05797800811069,0.22544554121812932,0.9634647313272706,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277Q,NP_000240:p.Glu277Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46872,0.05136,0.2914195647629752,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.1226,0.959,-6.1145,loss_of_function,-2.14658598023816,0.7083106807849898,0.1041636162058893,Benign,0.5596,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277R,NP_000240:p.Glu277Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63455,0.27041,-0.0658169876377051,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2367,0.959,-6.9218,loss_of_function,-3.84334292626825,0.49884439008400566,0.5385753550386914,Uncertain,0.9128,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277S,NP_000240:p.Glu277Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48849,1.03503,0.8487303936714449,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.1779,0.959,-8.9217,loss_of_function,-3.68389700686485,0.5185281434836785,0.4901064699974217,Uncertain,0.6933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277T,NP_000240:p.Glu277Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.8522,0.47313,0.4684194618750636,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.57,H,-0.1887,0.959,-7.9218,loss_of_function,-4.00109693761467,0.47936950437497755,0.3849947704697226,Uncertain,0.7572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277V,NP_000240:p.Glu277Val,"hg19,3:g.37059036A>T, hg38,3:g.37017545A>T",,,0.938,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.07581,-0.48061,-0.0930997573793401,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.57,H,-0.1777,0.959,-8.9217,loss_of_function,-4.48204392477796,0.4199961323309643,0.7283249734015586,Pathogenic,0.791,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277W,NP_000240:p.Glu277Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.70655,-0.70034,-1.3074139836291976,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2893,0.959,-22.2096,loss_of_function,-5.16322189112159,0.3359040516996883,0.9387846892132216,Pathogenic,0.9952,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E277Y,NP_000240:p.Glu277Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32663,-0.95714,-0.6746082276873999,Neutral,Neutral,False,0.09,,,,,,,Uncertain,Uncertain,Uncertain,28.1,,False,28.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.57,H,-0.2072,0.959,-7.9218,loss_of_function,-4.4826296875905,0.41992381934361483,0.627203376718005,Uncertain,0.9711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278A,NP_000240:p.Thr278Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57293,-0.16837,-0.0599546055151289,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,91.87,H,0.0457,2.9254,-2.7721,gain_of_function,-0.130633034642172,0.957182027226041,0.0004369491852238,Benign,0.0647,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278C,NP_000240:p.Thr278Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04939,0.62891,0.7377599804744008,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,91.87,H,-0.0164,2.9254,-7.9218,loss_of_function,-1.84847229480113,0.7451131043977511,0.1148084015751041,Benign,0.3054,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278D,NP_000240:p.Thr278Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00885,0.09932,0.3319085244929909,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.87,H,-0.0823,2.9254,-5.2214,loss_of_function,-1.36334010014419,0.8050031443661597,0.0074197411682345,Benign,0.4553,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278E,NP_000240:p.Thr278Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.35614,0.32279,-0.0227047379093242,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0553,2.9254,-4.7519,loss_of_function,-1.33063415713921,0.8090407247521778,0.0055091027538749,Benign,0.4295,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278F,NP_000240:p.Thr278Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.11597,0.38878,-0.2441803648659074,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.1607,2.9254,-22.2096,loss_of_function,-2.67394611604846,0.6432075605235967,0.2293926793359841,Benign,0.2505,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278G,NP_000240:p.Thr278Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2531,0.94796,0.824040526446177,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,DOWN,neutral,neutral,neutral,,,,91.87,H,-0.0408,2.9254,-5.3369,loss_of_function,-2.33056482267814,0.6855983142415497,0.0056735659891281,Benign,0.1246,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278H,NP_000240:p.Thr278His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4527,0.28741,-0.2457472704243074,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.063,2.9254,-6.9218,loss_of_function,-2.17826778188386,0.7043995316431071,0.0230679232348249,Benign,0.2762,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278I,NP_000240:p.Thr278Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-1.1089,0.0,-0.3743041121832624,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,1060564,Uncertain significance,1,91.87,H,0.0046,2.9254,-5.7519,gain_of_function,-2.34295788189054,0.684068379061539,0.0236318062022993,Benign,0.1765,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278K,NP_000240:p.Thr278Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.67106,-0.00578,-0.207009448815621,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0688,2.9254,-8.9217,loss_of_function,-3.04706903926249,0.5971451737545226,0.0456488583294533,Benign,0.3571,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278L,NP_000240:p.Thr278Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.22214,-0.08878,-0.5189251707689374,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0482,2.9254,-5.9218,loss_of_function,-1.49871891143002,0.7882904988067005,0.0112385688032954,Benign,0.0886,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278M,NP_000240:p.Thr278Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.12966,0.2915,-0.2116053099046699,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0172,2.9254,-6.3369,loss_of_function,-0.393239925546025,0.9247629518370473,0.0139888509981895,Benign,0.072,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278N,NP_000240:p.Thr278Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47646,0.08027,0.1095771990993799,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.87,H,-0.0196,2.9254,-4.6739,loss_of_function,-0.618305776516563,0.8969783542395178,0.0020813352928419,Benign,0.0888,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278P,NP_000240:p.Thr278Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.66403,8.24932,7.71627438130229,Uncertain,Uncertain,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.87,H,-0.2178,2.9254,-22.2096,loss_of_function,-4.26562891963311,0.44671277462070935,0.5353508792283985,Uncertain,0.5208,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278Q,NP_000240:p.Thr278Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.94738,0.16667,0.076885217368216,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0188,2.9254,-2.6551,loss_of_function,-1.36475642672671,0.8048282974758283,0.0002692206617051,Benign,0.2556,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278R,NP_000240:p.Thr278Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.65188,0.21224,-0.4765975916890014,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0665,2.9254,-7.9218,loss_of_function,-2.2334356290461,0.6975890074026904,0.016027903655194,Benign,0.3024,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278S,NP_000240:p.Thr278Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01376,0.15306,0.4076763349523404,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,,,DOWN,neutral,neutral,neutral,,,,91.87,H,0.0796,2.9254,-3.2494,gain_of_function,-0.25834872532709,0.941415401337356,0.000389626220648,Benign,0.0877,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278V,NP_000240:p.Thr278Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12017,0.1932,-0.2100325378818895,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,0.009,2.9254,-7.3368,gain_of_function,-1.912395007949,0.7372217834599143,0.0054620508096586,Benign,0.1226,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278W,NP_000240:p.Thr278Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.05352,-0.14966,-0.6901198318318796,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0858,2.9254,-8.9217,loss_of_function,-3.19003085072741,0.5794963994680733,0.4607775470975316,Uncertain,0.6177,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T278Y,NP_000240:p.Thr278Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.13306,0.29252,-0.2248003644307084,Neutral,Neutral,False,0.114,,,,,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,uncertain,,,UP,neutral,neutral,neutral,,,,91.87,H,-0.0782,2.9254,-5.7519,loss_of_function,-2.01360641086099,0.7247271376037592,0.0415160710427686,Benign,0.3192,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279A,NP_000240:p.Val279Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.14049,1.58878,2.404560410428092,Neutral,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,489904,Uncertain significance,2,92.24,H,-0.1,1.8131,-5.7519,loss_of_function,-0.935352860691721,0.8578385841887075,0.5613428638866326,Uncertain,0.3695,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279C,NP_000240:p.Val279Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.51745,2.22245,2.353917037331437,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.2119,1.8131,-22.2096,loss_of_function,-2.70554503417842,0.6393066434321223,0.7385049111289035,Pathogenic,0.8635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279D,NP_000240:p.Val279Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.9623,3.35408,3.5185682022035705,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.3506,1.8131,-22.2096,loss_of_function,-4.78269890913712,0.38287998290141667,0.945434089216323,Pathogenic,0.9735,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279E,NP_000240:p.Val279Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.96401,3.16633,2.7769579217053977,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.24,H,-0.2401,1.8131,-8.9217,loss_of_function,-3.79449293290091,0.5048749691456474,0.6551924481213061,Uncertain,0.9352,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279F,NP_000240:p.Val279Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.10834,2.52279,1.45691296154802,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.1772,1.8131,-5.7519,loss_of_function,-2.91533713707701,0.6134076048483442,0.7769722379332593,Pathogenic,0.6524,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279G,NP_000240:p.Val279Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.82481,3.26565,4.096926032422306,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,446501,Conflicting classifications of pathogenicity,1,92.24,H,-0.3098,1.8131,-22.2096,loss_of_function,-4.17362330578885,0.45807095688760097,0.7441565155812541,Pathogenic,0.6375,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279H,NP_000240:p.Val279His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.08297,2.29898,2.430819399625971,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.2807,1.8131,-7.9218,loss_of_function,-2.95816153400804,0.6081208915110938,0.926613530751891,Pathogenic,0.9723,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279I,NP_000240:p.Val279Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16939,-0.02891,0.3238431684817666,Neutral,Neutral,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.0239,1.8131,-3.4624,loss_of_function,-1.04554620276546,0.844235109231298,0.0032479317972485,Benign,0.0839,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279K,NP_000240:p.Val279Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.58085,1.37925,2.728058076838622,Neutral,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.3469,1.8131,-22.2096,loss_of_function,-5.06565749020648,0.347948471622039,0.9120956511776226,Pathogenic,0.9601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279L,NP_000240:p.Val279Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24158,0.47075,0.8862650137738628,Neutral,Neutral,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,619509,Uncertain significance,2,92.24,H,-0.0896,1.8131,-3.5999,loss_of_function,-0.99657385819804,0.8502807926672602,0.0077287996560186,Benign,0.3947,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279M,NP_000240:p.Val279Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47733,1.65748,1.663564784310192,Neutral,Neutral,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.1106,1.8131,-5.9218,loss_of_function,-1.56086314362437,0.7806187330675548,0.0657347883561605,Benign,0.2732,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279N,NP_000240:p.Val279Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.87627,2.60442,2.445337954062044,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.3385,1.8131,-22.2096,loss_of_function,-4.78269890913712,0.38287998290141667,0.8849260176359642,Pathogenic,0.8258,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279P,NP_000240:p.Val279Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77875,7.40238,6.435068764228055,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.3883,1.8131,-22.2096,loss_of_function,-5.06565749020648,0.347948471622039,0.904978651482292,Pathogenic,0.9804,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279Q,NP_000240:p.Val279Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.87494,1.66259,2.33396570834956,Neutral,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.24,H,-0.3185,1.8131,-22.2096,loss_of_function,-4.78269890913712,0.38287998290141667,0.856931171879438,Pathogenic,0.9012,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279R,NP_000240:p.Val279Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.73136,0.96463,2.138734253758084,Neutral,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.3679,1.8131,-22.2096,loss_of_function,-5.06565749020648,0.347948471622039,0.9399985644603478,Pathogenic,0.9432,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279S,NP_000240:p.Val279Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60175,2.74932,3.2321007588212485,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.2198,1.8131,-8.9217,loss_of_function,-2.34874019410863,0.6833545470098522,0.5617648186441084,Uncertain,0.5679,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279T,NP_000240:p.Val279Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.69626,1.60374,1.9195409460216228,Neutral,Neutral,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.24,H,-0.1042,1.8131,-2.8344,loss_of_function,-0.938658877896588,0.857430453158204,0.1048181230467203,Benign,0.3097,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279W,NP_000240:p.Val279Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.33253,2.57755,1.3526220613688529,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.3017,1.8131,-22.2096,loss_of_function,-4.16509700267517,0.459123537276792,0.9628003086180458,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V279Y,NP_000240:p.Val279Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.97962,1.83946,1.7976434417965577,Uncertain,Uncertain,False,0.13,,,,,,,,,,14.6,,False,14.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.24,H,-0.3046,1.8131,-22.2096,loss_of_function,-4.16509700267517,0.459123537276792,0.9462034038135698,Pathogenic,0.9618,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280A,NP_000240:p.Tyr280Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.72499,3.90136,3.8685469669713606,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4383,0.1472,-22.2066,loss_of_function,-7.13911950092912,0.09197757531207713,0.9798781881725798,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280C,NP_000240:p.Tyr280Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.58389,3.80306,4.267665873726443,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,1763209,Uncertain significance,1,92.31,H,-0.409,0.1472,-22.2066,loss_of_function,-5.91899205778263,0.24260349159097772,0.8926869455832162,Pathogenic,0.7852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280D,NP_000240:p.Tyr280Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",7.66409,5.39694,5.296974687468287,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,90387,Conflicting classifications of pathogenicity,1,92.31,H,-0.4525,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9915690244322372,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280E,NP_000240:p.Tyr280Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.92594,5.28299,4.996483126170926,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4813,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9885107789364536,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280F,NP_000240:p.Tyr280Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.67673,0.03605,0.0052216826149442,Neutral,Neutral,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,-,uncertain,uncertain,neutral,822375,Uncertain significance,2,92.31,H,-0.1962,0.1472,-6.5969,loss_of_function,-2.79841030596431,0.6278423355585394,0.420618454191151,Uncertain,0.2528,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280G,NP_000240:p.Tyr280Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.45704,5.91395,5.9515131004386,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.5089,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9706130408649288,Pathogenic,0.9708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280H,NP_000240:p.Tyr280His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.52108,3.23401,2.4710442894568563,Destabilizing,Uncertain,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,1351293,Uncertain significance,2,92.31,H,-0.2783,0.1472,-8.9187,loss_of_function,-3.42015063367555,0.5510878890660139,0.9664070976305223,Pathogenic,0.9666,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280I,NP_000240:p.Tyr280Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.25674,4.72891,3.23552955266858,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.3826,0.1472,-8.9187,loss_of_function,-5.35539033253472,0.31218067121978077,0.918132497246755,Pathogenic,0.9787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280K,NP_000240:p.Tyr280Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.34482,6.13265,4.967553696497753,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.5065,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9905046752503436,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280L,NP_000240:p.Tyr280Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.85792,2.04014,2.146593544209654,Uncertain,Uncertain,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4275,0.1472,-22.2066,loss_of_function,-5.10185323692872,0.34348007158230487,0.901311252769502,Pathogenic,0.9029,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280M,NP_000240:p.Tyr280Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.5185,2.42007,2.416623291008962,Uncertain,Uncertain,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.3796,0.1472,-22.2066,loss_of_function,-6.26788794064491,0.19953195645154767,0.9487439995968444,Pathogenic,0.9699,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280N,NP_000240:p.Tyr280Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.21165,4.22007,3.923255501359685,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4315,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9908236484906254,Pathogenic,0.9716,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280P,NP_000240:p.Tyr280Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.42996,12.45408,9.101892443834757,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.5625,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.990128969684855,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280Q,NP_000240:p.Tyr280Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.42393,3.81088,4.031270651036117,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4561,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.9892175316197568,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280R,NP_000240:p.Tyr280Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.05489,5.77041,3.9745081253134615,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.5019,0.1472,-22.2066,loss_of_function,-7.39594439427019,0.060272293130267406,0.990476119172236,Pathogenic,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280S,NP_000240:p.Tyr280Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.33412,5.14116,5.085943263232996,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4431,0.1472,-22.2066,loss_of_function,-7.13911950092912,0.09197757531207713,0.9591636168471892,Pathogenic,0.9567,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280T,NP_000240:p.Tyr280Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.20661,4.25102,4.209544074211629,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.3939,0.1472,-8.9187,loss_of_function,-7.13911950092912,0.09197757531207713,0.9696549675939126,Pathogenic,0.9867,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280V,NP_000240:p.Tyr280Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.41216,4.40612,3.3259673533525467,Destabilizing,Destabilizing,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,DOWN,neutral,neutral,neutral,,,,92.31,H,-0.4399,0.1472,-22.2066,loss_of_function,-5.80822925221585,0.25627726736893536,0.9325911309554796,Pathogenic,0.9413,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y280W,NP_000240:p.Tyr280Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.06119,2.51939,0.5493016165007899,Uncertain,Uncertain,True,0.177,,,,,,,,,,1.2,,False,1.2,,uncertain,,,UP,neutral,neutral,neutral,,,,92.31,H,-0.3559,0.1472,-22.2066,loss_of_function,-4.44288172579044,0.4248307437800599,0.9866295727317804,Pathogenic,0.8631,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281C,NP_000240:p.Ala281Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46145,0.45782,1.0775260013926575,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1331,2.2532,-22.2096,loss_of_function,-2.53730037091861,0.6600766102949212,0.5934759082589028,Uncertain,0.4031,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281D,NP_000240:p.Ala281Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.18821,0.79048,0.6155695075876083,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.147,2.2532,-8.9217,loss_of_function,-2.66767376947459,0.6439818877917973,0.248562965762761,Benign,0.7045,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281E,NP_000240:p.Ala281Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.50137,0.4068,0.4657982137354916,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.115,2.2532,-5.4624,loss_of_function,-1.45398107310406,0.7938134283400345,0.0040671417573772,Benign,0.6026,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281F,NP_000240:p.Ala281Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00429,-0.34762,-0.0889278243501046,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1154,2.2532,-8.9217,loss_of_function,-3.20635142656978,0.5774816085507272,0.3022567428225204,Benign,0.358,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281G,NP_000240:p.Ala281Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.62936,0.86395,1.0509339268286668,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,639304,Uncertain significance,2,90.43,H,-0.0419,2.2532,-5.5999,loss_of_function,-1.48009348093605,0.7905898262663046,0.0106832138329514,Benign,0.1265,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281H,NP_000240:p.Ala281His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.75105,0.29354,0.021179779830503,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1093,2.2532,-6.9218,loss_of_function,-3.23056412096636,0.5744925279431632,0.1657729166961912,Benign,0.6228,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281I,NP_000240:p.Ala281Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.34617,0.91327,0.1238756439317312,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.0999,2.2532,-7.9218,loss_of_function,-2.47780819743463,0.6674209768139946,0.0443679197161983,Benign,0.2232,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281K,NP_000240:p.Ala281Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12145,0.0915,0.176287686231778,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1373,2.2532,-8.9217,loss_of_function,-2.91829626138185,0.6130422980828064,0.0709901631421308,Benign,0.8135,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281L,NP_000240:p.Ala281Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.15431,-0.18844,-0.3048143393295721,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.0954,2.2532,-6.1145,loss_of_function,-2.86061003311382,0.6201637189133538,0.1112235123141737,Benign,0.1394,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281M,NP_000240:p.Ala281Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.16745,-0.50238,0.043509965318712,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1363,2.2532,-22.2096,loss_of_function,-3.51079060846348,0.5398982962651827,0.3540552973920405,Uncertain,0.1429,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281N,NP_000240:p.Ala281Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.59687,0.22109,0.3532203044635662,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.0957,2.2532,-4.6739,loss_of_function,-2.5256367387188,0.6615164970027438,0.0434080016348448,Benign,0.2629,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281P,NP_000240:p.Ala281Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.51039,9.34864,5.009049685226421,Destabilizing,Destabilizing,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.2546,2.2532,-22.2096,loss_of_function,-4.52531444939561,0.41465434409809376,0.8171920920931934,Pathogenic,0.9326,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281Q,NP_000240:p.Ala281Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57251,0.23469,0.3394170117008832,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.096,2.2532,-5.2214,loss_of_function,-1.75207195243121,0.7570138201636578,0.000764018477706,Benign,0.4792,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281R,NP_000240:p.Ala281Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07012,0.34762,-0.0581504442374475,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.148,2.2532,-8.9217,loss_of_function,-3.539572517336,0.5363451416988048,0.2224590728989836,Benign,0.7604,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281S,NP_000240:p.Ala281Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27153,-0.42823,0.5576247926247848,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,90.43,H,0.0051,2.2532,-2.0392,gain_of_function,-0.573835055069155,0.9024683079351133,7.229985493336842e-05,Benign,0.0849,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281T,NP_000240:p.Ala281Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.49353,-0.02687,0.4809592962593112,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1763318,Uncertain significance,1,90.43,H,-0.0073,2.2532,-3.3071,loss_of_function,-0.528215043154051,0.9081001426536623,0.0012381189653362,Benign,0.0757,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281V,NP_000240:p.Ala281Val,"hg19,3:g.37059048C>T, hg38,3:g.37017557C>T",,,0.736,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.57119,0.80476,0.3283120493085667,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90390,Pathogenic,3,90.43,H,-0.0187,2.2532,-6.1145,loss_of_function,-1.31023056499476,0.811559567992203,0.0149504249344085,Benign,0.1158,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281W,NP_000240:p.Ala281Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41423,-0.2034,-0.4629423593384624,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1942,2.2532,-22.2096,loss_of_function,-3.84120902740682,0.4991078219681541,0.7633844805230884,Pathogenic,0.8488,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A281Y,NP_000240:p.Ala281Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.18645,-0.69796,0.0403968387103864,Neutral,Neutral,True,0.197,,,,,,,Uncertain,Uncertain,Uncertain,79.1,,False,79.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,90.43,H,-0.1346,2.2532,-8.9217,loss_of_function,-3.31089242305929,0.5645759211379975,0.1720705009054912,Benign,0.5862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282C,NP_000240:p.Ala282Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32711,0.55986,0.5642851666507093,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0298,2.6392,-8.9187,loss_of_function,-1.38618594479217,0.8021828026857913,0.4420129118478726,Uncertain,0.6326,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282D,NP_000240:p.Ala282Asp,"hg19,3:g.37059051C>A",,,0.841,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.93362,0.3551,0.2521130887269202,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1466822,Uncertain significance,1,89.7,T,-0.1115,2.6392,-8.9187,loss_of_function,-2.57557056944314,0.655352117168148,0.2120698749046754,Benign,0.909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282E,NP_000240:p.Ala282Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.06859,0.32381,-0.0515003114443091,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0869,2.6392,-6.9188,loss_of_function,-1.98832210212298,0.7278485100411497,0.0631383660239304,Benign,0.8713,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282F,NP_000240:p.Ala282Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.38505,-0.39048,-0.3840459626039133,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0637,2.6392,-5.7489,loss_of_function,-2.24991546647265,0.6955545554883067,0.254287708388576,Benign,0.6771,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282G,NP_000240:p.Ala282Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.03945,0.87993,0.7156918919349883,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90391,Likely benign,3,89.7,T,0.0004,2.6392,-4.275,gain_of_function,-2.68064942609952,0.6423800303961384,0.284220676467453,Benign,0.2737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282H,NP_000240:p.Ala282His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.01425,-0.31054,-0.3166244635122378,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0759,2.6392,-7.3339,loss_of_function,-2.7618628520768,0.6323541541889529,0.3289887609897227,Uncertain,0.8678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282I,NP_000240:p.Ala282Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.26931,0.09558,-0.4058890367145573,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0525,2.6392,-5.5969,loss_of_function,-2.03102450837532,0.7225768565715045,0.0129883357057879,Benign,0.4403,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282K,NP_000240:p.Ala282Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47507,-1.02483,-0.275801455648097,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0875,2.6392,-6.1115,loss_of_function,-2.70914162064853,0.6388626413439965,0.0218925898834262,Benign,0.9406,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282L,NP_000240:p.Ala282Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.42893,-0.5932,-0.6222456602075316,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0559,2.6392,-5.3339,loss_of_function,-2.20320682892674,0.7013207820968553,0.0131324219428939,Benign,0.3163,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282M,NP_000240:p.Ala282Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.52509,-0.57313,-0.3201530809684394,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0248,2.6392,-7.3339,loss_of_function,-2.45071771641706,0.6707653229711342,0.0669895355165517,Benign,0.3701,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282N,NP_000240:p.Ala282Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.35972,-0.26224,0.0049033065513615,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0573,2.6392,-4.1115,loss_of_function,-2.34672737053818,0.6836030320318962,0.0200436136871241,Benign,0.5549,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282P,NP_000240:p.Ala282Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74065,2.29422,4.581766636843712,Uncertain,Uncertain,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.1359,2.6392,-5.9189,loss_of_function,-2.88597948765671,0.6170318351437662,0.1610014046809522,Benign,0.7462,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282Q,NP_000240:p.Ala282Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10052,-0.36769,0.0293283559511486,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.0662,2.6392,-6.3339,loss_of_function,-2.35006224900439,0.683191338050687,0.2890649703794153,Benign,0.7655,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282R,NP_000240:p.Ala282Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4814,-0.47755,-0.5699462359822272,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.1803,2.6392,-22.2066,loss_of_function,-3.412026689702,0.5520907978291009,0.3581140441779554,Uncertain,0.8864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282S,NP_000240:p.Ala282Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.09751,0.19252,0.2075364493033565,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.7,T,0.0315,2.6392,-3.8314,gain_of_function,-1.38377282832597,0.8024807042540666,0.0025185033669436,Benign,0.1445,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282T,NP_000240:p.Ala282Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.32658,0.05068,0.0244100380830081,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455457,Uncertain significance,2,89.7,T,0.0312,2.6392,-2.7094,gain_of_function,-0.991606226374251,0.850894051634098,0.0010479090714515,Benign,0.1265,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282V,NP_000240:p.Ala282Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.5589,0.31565,-0.3375241998477996,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1314192,Uncertain significance,2,89.7,T,0.0246,2.6392,-4.5969,gain_of_function,-1.96540191757021,0.7306780290548681,0.0146857098982076,Benign,0.1916,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282W,NP_000240:p.Ala282Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43637,-1.04082,-0.7084554034692114,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.1586,2.6392,-22.2066,loss_of_function,-3.87597369499462,0.4948160900355948,0.8691892202104075,Pathogenic,0.9632,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A282Y,NP_000240:p.Ala282Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27629,-0.56327,-0.270159467315233,Neutral,Neutral,True,0.205,,,,,,,Uncertain,Uncertain,Uncertain,75.9,,False,75.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.7,T,-0.1669,2.6392,-22.2066,loss_of_function,-2.85269714514084,0.6211405726084634,0.5964390831399684,Uncertain,0.8543,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283A,NP_000240:p.Tyr283Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.12064,4.06905,3.45425528765623,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.235,1.62,-8.9217,loss_of_function,-2.81996584100782,0.6251812838503363,0.8731996590349684,Pathogenic,0.917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283C,NP_000240:p.Tyr283Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.18816,3.59728,3.4211666826758425,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,232984,Uncertain significance,2,88.89,T,-0.2735,1.62,-22.2096,loss_of_function,-3.35339173862023,0.5593293394111867,0.972672639837336,Pathogenic,0.3416,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283D,NP_000240:p.Tyr283Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.41843,4.29728,4.21573064527916,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,1057282,Uncertain significance,2,88.89,T,-0.317,1.62,-22.2096,loss_of_function,-4.99552630290558,0.3566062347157727,0.9698927740783654,Pathogenic,0.9847,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283E,NP_000240:p.Tyr283Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.28116,4.22721,3.850956020860103,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.3458,1.62,-22.2096,loss_of_function,-4.99552630290558,0.3566062347157727,0.9844399151948164,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283F,NP_000240:p.Tyr283Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.70504,-0.43503,0.0172984806253856,Neutral,Neutral,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,-,uncertain,uncertain,neutral,924963,Uncertain significance,2,88.89,T,-0.0412,1.62,-2.7721,loss_of_function,-1.75302284703487,0.756896431302547,0.1191641980109805,Benign,0.16,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283G,NP_000240:p.Tyr283Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.16534,6.1415,4.986079786480189,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.3734,1.62,-22.2096,loss_of_function,-5.95860373565423,0.23771339153768506,0.973595980181592,Pathogenic,0.9436,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283H,NP_000240:p.Tyr283His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.83415,2.27483,1.8425196453342727,Uncertain,Neutral,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,2452041,Uncertain significance,1,88.89,T,-0.1274,1.62,-5.9218,loss_of_function,-2.31294048113557,0.6877740562991301,0.159194347068014,Benign,0.8039,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283I,NP_000240:p.Tyr283Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.16454,3.48401,2.0226566530507566,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2209,1.62,-3.7926,loss_of_function,-2.61743687262056,0.6501836814340523,0.4944088391680965,Uncertain,0.6918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283K,NP_000240:p.Tyr283Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.25442,3.99796,4.081811086289589,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.371,1.62,-22.2096,loss_of_function,-4.39280326923036,0.43101297781435305,0.9256837716721902,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283L,NP_000240:p.Tyr283Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.40284,2.16088,1.313024021726343,Uncertain,Neutral,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2018,1.62,-4.5295,loss_of_function,-1.45497965274136,0.7936901527152703,0.1700887001455976,Benign,0.617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283M,NP_000240:p.Tyr283Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57154,2.49898,1.659232391660929,Uncertain,Neutral,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2441,1.62,-22.2096,loss_of_function,-3.45937855408149,0.5462451642440699,0.8967229354044607,Pathogenic,0.8441,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283N,NP_000240:p.Tyr283Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07992,3.39524,3.051217082307035,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.296,1.62,-22.2096,loss_of_function,-4.32801654093107,0.4390109622606557,0.964827903867404,Pathogenic,0.8776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283P,NP_000240:p.Tyr283Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.07829,6.48333,5.714035636703163,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.427,1.62,-22.2096,loss_of_function,-5.95860373565423,0.23771339153768506,0.9908253599089688,Pathogenic,0.9957,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283Q,NP_000240:p.Tyr283Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.42482,3.22993,3.2400990338895763,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.3205,1.62,-22.2096,loss_of_function,-4.42833906480121,0.4266260493843559,0.8634427553603561,Pathogenic,0.9773,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283R,NP_000240:p.Tyr283Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.73598,3.64966,3.162923156708227,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2986,1.62,-8.9217,loss_of_function,-3.9275174203923,0.4884529671421107,0.874916480759867,Pathogenic,0.9657,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283S,NP_000240:p.Tyr283Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.83874,4.7449,4.136451658548889,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,853241,Uncertain significance,2,88.89,T,-0.3076,1.62,-22.2096,loss_of_function,-3.15452771021542,0.5838792965993814,0.93489564515898,Pathogenic,0.7401,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283T,NP_000240:p.Tyr283Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.10269,3.28503,3.311747607836204,Uncertain,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2441,1.62,-6.1145,loss_of_function,-3.36920638969565,0.5573770053970257,0.7099692457957562,Pathogenic,0.8293,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283V,NP_000240:p.Tyr283Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79092,1.73503,2.10389760134413,Neutral,Uncertain,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,88.89,T,-0.2177,1.62,-5.2214,loss_of_function,-2.8737138842437,0.6185460357817208,0.7169798487845569,Pathogenic,0.5195,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y283W,NP_000240:p.Tyr283Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.16241,1.59626,0.6208755386739251,Neutral,Neutral,False,0.147,,,,,,,,,,13.5,,True,13.5,,uncertain,,,UP,neutral,neutral,neutral,,,,88.89,T,-0.2204,1.62,-22.2096,loss_of_function,-3.63373334282504,0.5247208964639883,0.947268465049638,Pathogenic,0.6144,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284A,NP_000240:p.Leu284Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.53393,3.46871,2.8843165491981897,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.327,0.2669,-8.9217,loss_of_function,-5.24500572396677,0.32580775821141317,0.9300686223925176,Pathogenic,0.9611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284C,NP_000240:p.Leu284Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.09776,3.39184,2.8832794644772863,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.384,0.2669,-22.2096,loss_of_function,-5.85138952761174,0.25094908950942374,0.9329611653463804,Pathogenic,0.9594,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284D,NP_000240:p.Leu284Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.46826,5.22415,3.4869955077211943,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.5163,0.2669,-22.2096,loss_of_function,-6.38861933415086,0.1846275488237956,0.993699867246696,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284E,NP_000240:p.Leu284Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.05618,4.85408,3.065415061272221,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4844,0.2669,-22.2096,loss_of_function,-6.38861933415086,0.1846275488237956,0.9879758006652438,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284F,NP_000240:p.Leu284Phe,"hg19,3:g.37059058G>T",,,0.906,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.60003,2.29762,0.7113009851513565,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,926260,Uncertain significance,2,89.13,S,-0.2524,0.2669,-7.3368,loss_of_function,-5.40420011762865,0.30615505590849007,0.8810932159276341,Pathogenic,0.8874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284G,NP_000240:p.Leu284Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.16264,4.75578,4.301378136213764,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4696,0.2669,-22.2096,loss_of_function,-7.2235366888705,0.08155619158304,0.9680987744811388,Pathogenic,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284H,NP_000240:p.Leu284His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.72706,3.49898,1.915566507012103,Uncertain,Neutral,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4372,0.2669,-22.2096,loss_of_function,-6.266614501152,0.19968916379207824,0.9890921350191204,Pathogenic,0.9801,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284I,NP_000240:p.Leu284Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.49639,1.59286,1.5685134999881083,Neutral,Neutral,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.13,S,-0.1868,0.2669,-6.1145,loss_of_function,-1.49022121025478,0.7893395482588496,0.1345222531079508,Benign,0.315,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284K,NP_000240:p.Leu284Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.3846,4.5102,3.304256751778647,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.13,S,-0.4834,0.2669,-22.2096,loss_of_function,-7.2235366888705,0.08155619158304,0.9664217408955764,Pathogenic,0.9901,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284M,NP_000240:p.Leu284Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06108,1.84626,1.4519358707244738,Neutral,Neutral,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.13,S,-0.2125,0.2669,-6.5999,loss_of_function,-2.62569442125918,0.6491642790454771,0.7463046294983262,Pathogenic,0.5006,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284N,NP_000240:p.Leu284Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.00639,3.86327,2.6185303459639533,Destabilizing,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4626,0.2669,-22.2096,loss_of_function,-6.38861933415086,0.1846275488237956,0.9620426889207964,Pathogenic,0.992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284P,NP_000240:p.Leu284Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.34505,9.4881,5.4544358963521455,Destabilizing,Destabilizing,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4782,0.2669,-22.2096,loss_of_function,-7.2235366888705,0.08155619158304,0.9853211836589794,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284Q,NP_000240:p.Leu284Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.23294,2.82585,2.4509498928153453,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4156,0.2669,-22.2096,loss_of_function,-6.10707485640589,0.21938448767621438,0.9633666736334424,Pathogenic,0.9519,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284R,NP_000240:p.Leu284Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.77426,7.94456,2.5275478794259243,Destabilizing,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.13,S,-0.475,0.2669,-22.2096,loss_of_function,-7.2235366888705,0.08155619158304,0.9748352485796006,Pathogenic,0.9688,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284S,NP_000240:p.Leu284Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.87157,4.27007,3.446896666091597,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.4252,0.2669,-22.2096,loss_of_function,-4.78855619051655,0.3821568958340487,0.9286654722848586,Pathogenic,0.9807,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284T,NP_000240:p.Leu284Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.56183,2.88231,2.684197355503016,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.13,S,-0.3979,0.2669,-22.2096,loss_of_function,-5.64360824754892,0.2765998900637946,0.9189996526214722,Pathogenic,0.9516,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284V,NP_000240:p.Leu284Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.1909,2.36837,1.810942357932372,Uncertain,Neutral,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,650136,Uncertain significance,1,89.13,S,-0.3052,0.2669,-22.2096,loss_of_function,-3.49169386155602,0.54225580819317,0.8734931092874312,Pathogenic,0.4702,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284W,NP_000240:p.Leu284Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",12.75558,5.34388,1.332711636545488,Destabilizing,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.13,S,-0.4274,0.2669,-22.2096,loss_of_function,-6.266614501152,0.19968916379207824,0.9792723665411224,Pathogenic,0.9839,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L284Y,NP_000240:p.Leu284Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.98882,2.62959,1.2267272448486373,Uncertain,Uncertain,False,0.098,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.13,S,-0.4203,0.2669,-22.2096,loss_of_function,-5.72501483455946,0.26655016793970304,0.9719279996619952,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285A,NP_000240:p.Pro285Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.85273,1.25272,-0.2197321474295177,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.1,-,-0.2104,0.309,-4.8344,loss_of_function,-3.2525991716266,0.5717722795669842,0.1935954214679338,Benign,0.6295,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285C,NP_000240:p.Pro285Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.38414,2.24218,0.7484029849806497,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.1,-,-0.3318,0.309,-22.2096,loss_of_function,-5.35469263931616,0.31226680212431657,0.9918892861740632,Pathogenic,0.9817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285D,NP_000240:p.Pro285Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.18295,1.12857,-0.2661054479860453,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.1,-,-0.3577,0.309,-22.2096,loss_of_function,-5.59913013027448,0.2820907567814106,0.935290854072672,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285E,NP_000240:p.Pro285Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.92646,1.41633,-0.5563046038974256,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3415,0.309,-22.2096,loss_of_function,-6.17810695792012,0.2106155058490331,0.8573372264301926,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285F,NP_000240:p.Pro285Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.80513,1.80408,-0.2254494350130947,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3602,0.309,-22.2096,loss_of_function,-6.10799261692564,0.21927118924989966,0.9183977647314258,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285G,NP_000240:p.Pro285Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.46879,1.99932,0.501776357352629,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,88.1,-,-0.3135,0.309,-22.2096,loss_of_function,-5.36269716019934,0.31127863625756635,0.7008715486681746,Pathogenic,0.9482,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285H,NP_000240:p.Pro285His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.31816,0.8932,-0.4409310528582527,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3378,0.309,-22.2096,loss_of_function,-5.34734631034533,0.3131737135610956,0.8229280739724582,Pathogenic,0.9531,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285I,NP_000240:p.Pro285Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.09356,1.67653,-0.2375804003316445,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3433,0.309,-22.2096,loss_of_function,-5.52112564234073,0.2917204864747184,0.9548784370112172,Pathogenic,0.9806,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285K,NP_000240:p.Pro285Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.01512,1.36156,-0.432167482712969,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3332,0.309,-22.2096,loss_of_function,-6.26591621916146,0.19977536738108595,0.9491820082994622,Pathogenic,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285L,NP_000240:p.Pro285Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.78974,1.41599,-0.561790535271921,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3478,0.309,-22.2096,loss_of_function,-4.81323792247359,0.37910991208471834,0.8688743984556161,Pathogenic,0.7672,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285M,NP_000240:p.Pro285Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.70791,1.79014,-0.2729845533957087,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.2988,0.309,-22.2096,loss_of_function,-5.27510509022262,0.3220919622532385,0.8497399430614091,Pathogenic,0.9674,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285N,NP_000240:p.Pro285Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.3516,1.4085,0.0564422748612092,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.1,-,-0.3258,0.309,-22.2096,loss_of_function,-5.44116996409266,0.3015910925048219,0.9366229079009905,Pathogenic,0.9894,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285Q,NP_000240:p.Pro285Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.20526,1.53537,-0.1171603217798089,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3275,0.309,-22.2096,loss_of_function,-5.85394118618015,0.25063408478425625,0.7346201677073929,Pathogenic,0.9279,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285R,NP_000240:p.Pro285Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.01233,1.46293,-0.4347900321037096,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3689,0.309,-22.2096,loss_of_function,-5.42660260433754,0.30338944719572275,0.917821318724213,Pathogenic,0.9556,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285S,NP_000240:p.Pro285Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.10356,1.37347,-0.1299511989042956,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,420749,Uncertain significance,2,88.1,-,-0.2208,0.309,-6.9218,loss_of_function,-3.82090328675404,0.5016145853466247,0.7001820722125311,Pathogenic,0.8688,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285T,NP_000240:p.Pro285Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.47431,1.56599,-0.0237736715033454,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,88.1,-,-0.2431,0.309,-8.9217,loss_of_function,-4.58075683510506,0.4078099278077445,0.8448178449961232,Pathogenic,0.8997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285V,NP_000240:p.Pro285Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.45469,1.62143,-0.1492279079078562,Uncertain,Uncertain,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.2986,0.309,-22.2096,loss_of_function,-5.09511884218653,0.3443114391450329,0.9137483691399202,Pathogenic,0.936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285W,NP_000240:p.Pro285Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.96636,1.95,-0.7243403969586454,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3727,0.309,-22.2096,loss_of_function,-6.10799261692564,0.21927118924989966,0.9907676195216064,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P285Y,NP_000240:p.Pro285Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.91748,1.54456,-0.2206418940079879,Neutral,Neutral,False,0.039,,,,,,,Uncertain,Uncertain,Uncertain,65.5,,True,65.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,88.1,-,-0.3612,0.309,-22.2096,loss_of_function,-6.10799261692564,0.21927118924989966,0.939386537456774,Pathogenic,0.9919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286A,NP_000240:p.Lys286Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76936,0.11429,0.2033273663910295,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.2933,0.3155,-22.2096,loss_of_function,-5.10805338072027,0.34271465781761257,0.9131308494095538,Pathogenic,0.9686,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286C,NP_000240:p.Lys286Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94912,0.71156,0.8931285759339277,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3635,0.3155,-22.2096,loss_of_function,-5.57509176388454,0.2850583164274712,0.9933689780137096,Pathogenic,0.9773,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286D,NP_000240:p.Lys286Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79508,-0.00374,-0.1274579442411316,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.4023,0.3155,-22.2096,loss_of_function,-4.1361324203103,0.4626992430629787,0.908246254636888,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286E,NP_000240:p.Lys286Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.6925,-0.11327,-0.1870026962610393,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3182,0.3155,-22.2096,loss_of_function,-4.43321875402232,0.42602364701711587,0.9395620509194188,Pathogenic,0.9756,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286F,NP_000240:p.Lys286Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.73525,0.65306,0.0451597105473433,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.09,T,-0.3644,0.3155,-22.2096,loss_of_function,-5.85249477224782,0.25081264598710395,0.9769346846863716,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286G,NP_000240:p.Lys286Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.9914,0.87313,0.5426505448254589,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.2847,0.3155,-8.9217,loss_of_function,-5.16236927015901,0.3360093085844904,0.8911817263676762,Pathogenic,0.9491,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286H,NP_000240:p.Lys286His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.93623,0.44932,-0.1766986523600738,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3034,0.3155,-22.2096,loss_of_function,-4.31193475173303,0.44099627473515596,0.9077242856015756,Pathogenic,0.9058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286I,NP_000240:p.Lys286Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88352,0.4432,0.0190004255483139,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.09,T,-0.3317,0.3155,-22.2096,loss_of_function,-5.93184039683467,0.2410173516731796,0.8315787814320565,Pathogenic,0.9856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286L,NP_000240:p.Lys286Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.73786,0.2017,-0.1879234112502764,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.09,T,-0.2625,0.3155,-8.9217,loss_of_function,-4.52680487538395,0.41447034956424367,0.8861682342044563,Pathogenic,0.9676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286M,NP_000240:p.Lys286Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85019,0.77789,0.055138385049594,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3034,0.3155,-22.2096,loss_of_function,-6.18801684311807,0.2093921209095791,0.9670409491461698,Pathogenic,0.9716,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286N,NP_000240:p.Lys286Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.97229,0.28027,0.0070919643997491,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3116,0.3155,-22.2096,loss_of_function,-4.08544869020808,0.46895619870311406,0.565179002499435,Uncertain,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286P,NP_000240:p.Lys286Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.18456,-0.77585,0.2631325851555466,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.4676,0.3155,-22.2096,loss_of_function,-6.8009419223516,0.1337259253916869,0.933365506188498,Pathogenic,0.9679,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286Q,NP_000240:p.Lys286Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.58957,-0.20136,0.1307074810829317,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,2734465,Uncertain significance,1,85.09,T,-0.2247,0.3155,-8.9217,loss_of_function,-3.91972413053762,0.48941505633351606,0.8198336910440981,Pathogenic,0.8009,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286R,NP_000240:p.Lys286Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00198,0.45578,-0.1390919456053507,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1522877,Uncertain significance,2,85.09,T,-0.1387,0.3155,-4.9218,loss_of_function,-2.00072321414539,0.7263175807339327,0.0943485690920832,Benign,0.0828,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286S,NP_000240:p.Lys286Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.84821,0.1398,-0.0150969553604596,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.2357,0.3155,-8.9217,loss_of_function,-4.26259952770314,0.4470867559927232,0.6058145592326541,Uncertain,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286T,NP_000240:p.Lys286Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64489,0.0517,0.0475290806726402,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.2475,0.3155,-8.9217,loss_of_function,-4.57240553124935,0.40884090436880427,0.8648385990921618,Pathogenic,0.9724,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286V,NP_000240:p.Lys286Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76505,0.34116,0.1121296286156853,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.09,T,-0.3155,0.3155,-22.2096,loss_of_function,-6.18801684311807,0.2093921209095791,0.9030558003960178,Pathogenic,0.9635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286W,NP_000240:p.Lys286Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.86144,0.47517,-0.2437466740931793,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.09,T,-0.3734,0.3155,-22.2096,loss_of_function,-5.30118902000796,0.31887187582198895,0.9840199780809332,Pathogenic,0.9893,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K286Y,NP_000240:p.Lys286Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76448,0.38333,0.0908448798332345,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,109.6,,True,109.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.09,T,-0.3493,0.3155,-22.2096,loss_of_function,-5.85249477224782,0.25081264598710395,0.9819705786735976,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287A,NP_000240:p.Asn287Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46013,1.02007,1.0030576888902891,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.34,T,-0.072,1.9098,-6.3339,loss_of_function,-1.98647632898586,0.7280763725251741,0.0370203833822958,Benign,0.1925,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287C,NP_000240:p.Asn287Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58347,1.47279,1.324109131245143,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.34,T,-0.2029,1.9098,-22.2066,loss_of_function,-2.88252892309906,0.6174578106851698,0.9058913061744988,Pathogenic,0.1717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287D,NP_000240:p.Asn287Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.26026,-0.79728,0.2336030955756046,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.34,T,-0.1562,1.9098,-22.2066,loss_of_function,-2.200908737274,0.7016044837403446,0.0471949957268615,Benign,0.58,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287E,NP_000240:p.Asn287Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47097,0.4949,0.5601762677905564,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.1104,1.9098,-7.9188,loss_of_function,-2.26982601385633,0.6930965791022112,0.2744580256015879,Benign,0.8551,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287F,NP_000240:p.Asn287Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.20588,0.80782,0.3706949484383059,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.2101,1.9098,-22.2066,loss_of_function,-3.31370292534378,0.564228961905023,0.9105012773831564,Pathogenic,0.5289,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287G,NP_000240:p.Asn287Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.79072,-0.19796,0.758710493167681,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.34,T,-0.0775,1.9098,-1.3797,loss_of_function,-0.247326722011134,0.9427760783371403,0.0004132117284388,Benign,0.1278,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287H,NP_000240:p.Asn287His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48246,0.4102,0.1760778006362173,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.0702,1.9098,-5.012,loss_of_function,-1.6003988297713,0.7757380142663785,0.0040313181018549,Benign,0.1419,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287I,NP_000240:p.Asn287Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.93871,5.52211,1.3637298617881737,Destabilizing,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.2033,1.9098,-22.2066,loss_of_function,-3.64083756835598,0.523843872931684,0.844539379995721,Pathogenic,0.3386,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287K,NP_000240:p.Asn287Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.19687,0.70374,0.3773313231726061,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455458,Uncertain significance,2,85.34,T,-0.0644,1.9098,-4.2184,loss_of_function,-1.00719642890275,0.8489694260107509,0.0295177464333064,Benign,0.7037,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287L,NP_000240:p.Asn287Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.67345,1.11769,0.3577703726069609,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.2097,1.9098,-22.2066,loss_of_function,-2.90330142141945,0.6148934256199164,0.7120920053007046,Pathogenic,0.2963,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287M,NP_000240:p.Asn287Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.60219,1.50782,0.6240486124237207,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.1639,1.9098,-22.2066,loss_of_function,-3.64083756835598,0.523843872931684,0.8753365161800821,Pathogenic,0.2589,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287P,NP_000240:p.Asn287Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.66088,6.4966,4.566273692909806,Destabilizing,Destabilizing,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.34,T,-0.3186,1.9098,-22.2066,loss_of_function,-4.4044050730067,0.429580723885376,0.7863375867304954,Pathogenic,0.7654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287Q,NP_000240:p.Asn287Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.19966,0.9568,0.7522817703371434,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.069,1.9098,-6.9188,loss_of_function,-1.78874317304294,0.752486722411096,0.0582693217668178,Benign,0.4274,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287R,NP_000240:p.Asn287Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.26384,1.15646,0.3668973635158079,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.1206,1.9098,-8.9187,loss_of_function,-2.07679098434529,0.7169269407233242,0.1662026844010576,Benign,0.7819,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287S,NP_000240:p.Asn287Ser,"hg19,3:g.37059066A>G",,,0.319,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.39813,0.86871,0.7889106055010237,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.34,T,-0.0292,1.9098,-3.8314,loss_of_function,-0.181482928883424,0.9509045584617766,0.0485852062051714,Benign,0.0643,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287T,NP_000240:p.Asn287Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.87579,1.21395,1.1431524636978807,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2838586,Uncertain significance,1,85.34,T,-0.1047,1.9098,-8.9187,loss_of_function,-1.90627606650262,0.7379771727163358,0.3522598411456284,Uncertain,0.1291,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287V,NP_000240:p.Asn287Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.70678,5.24558,1.2010817482331866,Uncertain,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.1966,1.9098,-22.2066,loss_of_function,-3.12461004784269,0.5875726610369472,0.6270677410488928,Uncertain,0.2952,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287W,NP_000240:p.Asn287Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.31738,1.50918,0.2129046821440672,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.2153,1.9098,-22.2066,loss_of_function,-3.31370292534378,0.564228961905023,0.8796935399761479,Pathogenic,0.8367,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N287Y,NP_000240:p.Asn287Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21711,0.78435,0.4334365901119708,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,115.3,,False,115.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.34,T,-0.1937,1.9098,-22.2066,loss_of_function,-3.31370292534378,0.564228961905023,0.7804381442183926,Pathogenic,0.2131,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288A,NP_000240:p.Thr288Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.44948,0.4619,-0.0738811112638943,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,DOWN,neutral,neutral,neutral,182521,Uncertain significance,1,90.95,-,-0.0123,2.3085,-3.015,loss_of_function,-0.17663647924646,0.9515028573701142,0.0042885710380901,Benign,0.0804,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288C,NP_000240:p.Thr288Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79571,0.82789,0.4534651030728509,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,DOWN,neutral,neutral,neutral,,,,90.95,-,-0.0731,2.3085,-7.9218,loss_of_function,-1.84766575921759,0.7452126719978118,0.0963919990439563,Benign,0.2455,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288D,NP_000240:p.Thr288Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.88728,1.53707,0.2927220235743488,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,uncertain,potentially_damaging,-,uncertain,uncertain,neutral,,,,90.95,-,-0.158,2.3085,-8.9217,loss_of_function,-2.90192387073068,0.615063485588555,0.2691430321028959,Benign,0.8636,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288E,NP_000240:p.Thr288Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.87726,0.7398,0.0302572226787656,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.2011,2.3085,-22.2096,loss_of_function,-2.58095955145887,0.6546868421114405,0.3490052883371964,Uncertain,0.8144,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288F,NP_000240:p.Thr288Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.59484,0.0915,-0.8199566080060028,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.1497,2.3085,-8.9217,loss_of_function,-3.05249642875272,0.596475157257836,0.3911598809072458,Uncertain,0.3873,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288G,NP_000240:p.Thr288Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.42188,1.32415,0.8108624737418465,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,DOWN,neutral,neutral,neutral,,,,90.95,-,-0.0841,2.3085,-2.693,loss_of_function,-1.51008555417254,0.7868872757354354,0.003715215229614,Benign,0.1894,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288H,NP_000240:p.Thr288His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14521,0.45476,-0.4826917838299377,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.1219,2.3085,-7.3368,loss_of_function,-2.81152804341937,0.6262229381465945,0.129305924169713,Benign,0.4652,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288I,NP_000240:p.Thr288Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.52695,4.06497,-0.668332047474598,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,uncertain,potentially_damaging,UP,neutral,neutral,neutral,187629,Uncertain significance,2,90.95,-,-0.0683,2.3085,-8.9217,loss_of_function,-2.78571039946217,0.6294101513340852,0.5623466278980381,Uncertain,0.3875,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288K,NP_000240:p.Thr288Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04702,0.58639,-0.1307212508925159,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.1137,2.3085,-6.5999,loss_of_function,-2.26647955385878,0.6935097028346975,0.0340247437406587,Benign,0.6972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288L,NP_000240:p.Thr288Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.03388,0.01871,-1.0642214024634478,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.1881,2.3085,-22.2096,loss_of_function,-2.58152630942858,0.6546168752903715,0.4702315392900426,Uncertain,0.1334,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288M,NP_000240:p.Thr288Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.19458,-0.14286,-0.6246425581000231,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.0651,2.3085,-4.5999,loss_of_function,-0.950232471015799,0.8560016818622116,0.0012862887807366,Benign,0.0753,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288N,NP_000240:p.Thr288Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.05309,0.81293,0.0552503503513218,Uncertain,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,uncertain,potentially_damaging,-,uncertain,uncertain,neutral,,,,90.95,-,-0.0819,2.3085,-5.7519,loss_of_function,-2.44198471129314,0.6718434209239732,0.0176254330561981,Benign,0.2013,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288P,NP_000240:p.Thr288Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.97805,7.08639,2.707858868958444,Destabilizing,Uncertain,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,neutral,potentially_damaging,-,uncertain,uncertain,neutral,,,,90.95,-,-0.2016,2.3085,-7.9218,loss_of_function,-3.46573166867051,0.5454608660860609,0.2364375160233277,Benign,0.653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288Q,NP_000240:p.Thr288Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23577,0.10782,-0.1629584339310891,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.0973,2.3085,-6.9218,loss_of_function,-2.52326240798971,0.661809610434154,0.1045635283612673,Benign,0.4307,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288R,NP_000240:p.Thr288Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.7807,0.71939,-0.5100735055624206,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,822620,Uncertain significance,2,90.95,-,-0.1233,2.3085,-7.9218,loss_of_function,-3.11117777952604,0.5892308875888244,0.2987722904683291,Benign,0.5701,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288S,NP_000240:p.Thr288Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.55452,0.6966,0.2720014052516295,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,neutral,damaging,potentially_damaging,DOWN,neutral,neutral,neutral,2011712,Uncertain significance,1,90.95,-,0.0247,2.3085,-2.8775,gain_of_function,-0.408459969043323,0.9228840227051255,0.0002300694070366,Benign,0.0924,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288V,NP_000240:p.Thr288Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.58327,0.61361,-0.5895740249345766,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.1237,2.3085,-22.2096,loss_of_function,-2.74609809231111,0.6343003290725374,0.3971434057513706,Uncertain,0.211,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288W,NP_000240:p.Thr288Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.1874,-0.19898,-1.015467823999454,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,damaging,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.2104,2.3085,-22.2096,loss_of_function,-3.76935721895014,0.5079779974124287,0.8863601452370129,Pathogenic,0.8103,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T288Y,NP_000240:p.Thr288Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.62015,-0.07075,-0.6519146715245089,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,23.1,P,True,23.1,6.207,uncertain,damaging,potentially_damaging,UP,neutral,neutral,neutral,,,,90.95,-,-0.2189,2.3085,-22.2096,loss_of_function,-3.57018539793762,0.5325659518965785,0.586227104074142,Uncertain,0.4892,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289A,NP_000240:p.His289Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.26959,0.48878,1.762202070223412,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.1082,1.2262,-7.3368,loss_of_function,-2.71081610966643,0.6386559240506212,0.5696396133258002,Uncertain,0.8762,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289C,NP_000240:p.His289Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.33961,1.22789,2.142365680877853,Neutral,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.1708,1.2262,-8.9217,loss_of_function,-3.08807418126555,0.5920830492026568,0.9318198625146448,Pathogenic,0.3432,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289D,NP_000240:p.His289Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.20214,1.32721,2.330945386278969,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.2313,1.2262,-22.2096,loss_of_function,-4.01137186521563,0.478101054596811,0.974309801751682,Pathogenic,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289E,NP_000240:p.His289Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.48453,0.73707,1.954758727594972,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.175,1.2262,-8.9217,loss_of_function,-4.52974731680202,0.41410710231725867,0.9690072095074556,Pathogenic,0.9728,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289F,NP_000240:p.His289Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.22719,-1.07925,-0.1715194694788158,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.1196,1.2262,-5.3369,loss_of_function,-1.66082412292777,0.7682784532186874,0.3529862083164064,Uncertain,0.5597,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289G,NP_000240:p.His289Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.05948,2.14966,3.102461611350576,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.2666,1.2262,-22.2096,loss_of_function,-4.93940269114358,0.36353474902304206,0.9729958556685872,Pathogenic,0.8738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289I,NP_000240:p.His289Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.40305,2.92993,0.9521551027395632,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.2703,1.2262,-22.2096,loss_of_function,-4.95897692301153,0.3611182911135615,0.9053430504509008,Pathogenic,0.9121,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289K,NP_000240:p.His289Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4604,-0.29354,1.4875574765009263,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.1368,1.2262,-4.5295,loss_of_function,-2.39296872821009,0.6778944915770155,0.1867805181138723,Benign,0.7535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289L,NP_000240:p.His289Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.39412,-0.18435,0.5532636351908843,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.2339,1.2262,-22.2096,loss_of_function,-4.75117150605342,0.38677207139106673,0.871244382986242,Pathogenic,0.6468,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289M,NP_000240:p.His289Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.55603,0.87449,1.0702216283141988,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.184,1.2262,-22.2096,loss_of_function,-4.95897692301153,0.3611182911135615,0.9374686080271448,Pathogenic,0.9071,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289N,NP_000240:p.His289Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28028,1.25306,1.7302371531160956,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.1908,1.2262,-22.2096,loss_of_function,-3.76649437472582,0.5083314183086426,0.8280776547584741,Pathogenic,0.6529,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289P,NP_000240:p.His289Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.12968,1.72585,5.256511228659833,Uncertain,Destabilizing,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.3473,1.2262,-22.2096,loss_of_function,-5.45823278151724,0.2994846711442392,0.9655061512778608,Pathogenic,0.9482,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289Q,NP_000240:p.His289Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.34852,-0.3983,1.5325727644781333,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1062384,Uncertain significance,1,92.2,B,-0.0794,1.2262,-7.9218,loss_of_function,-3.29306504210605,0.5667767286077565,0.6167677893291378,Uncertain,0.6927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289R,NP_000240:p.His289Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27617,0.12313,0.8429747772698309,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1498271,Uncertain significance,2,92.2,B,-0.1357,1.2262,-5.5999,loss_of_function,-2.38329992465248,0.6790881147541404,0.2530735600565854,Benign,0.3889,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289S,NP_000240:p.His289Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.49028,1.41463,2.2585049627194,Neutral,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.0974,1.2262,-4.0639,loss_of_function,-2.59403124265715,0.6530731291545558,0.4994132085581148,Uncertain,0.7569,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289T,NP_000240:p.His289Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45526,0.94558,1.7532172378153723,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.2349,1.2262,-22.2096,loss_of_function,-2.76387078584831,0.6321062728173308,0.8962403237960467,Pathogenic,0.904,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289V,NP_000240:p.His289Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.09717,0.49388,1.105941317559821,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.2,B,-0.2267,1.2262,-22.2096,loss_of_function,-4.14743029689324,0.46130450924081123,0.9395264609162622,Pathogenic,0.8475,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289W,NP_000240:p.His289Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.87134,1.59048,-0.3391799309372173,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.2,B,-0.222,1.2262,-22.2096,loss_of_function,-3.34115449658385,0.5608400388096881,0.9831912104173894,Pathogenic,0.7277,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H289Y,NP_000240:p.His289Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.99674,-1.16361,0.0452499289134161,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,37.8,,True,37.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,924870,Uncertain significance,2,92.2,B,-0.0672,1.2262,-4.8344,loss_of_function,-0.574975637460901,0.9023275019325819,0.0622076050570493,Benign,0.2353,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290A,NP_000240:p.Pro290Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.22824,0.98095,0.6225310522151292,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,489905,Uncertain significance,2,93.55,-,-0.206,0.4081,-5.7519,loss_of_function,-3.28021859293859,0.5683626352174701,0.2721785978742684,Benign,0.3962,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290C,NP_000240:p.Pro290Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.12853,0.97109,1.282483192810258,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.55,-,-0.2549,0.4081,-8.9217,loss_of_function,-4.23347285966946,0.45068247141193424,0.9160327194576596,Pathogenic,0.8851,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290D,NP_000240:p.Pro290Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.88097,2.90068,2.9758384731264456,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.55,-,-0.3486,0.4081,-22.2096,loss_of_function,-5.96802176698061,0.23655072643573388,0.9725764937659538,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290E,NP_000240:p.Pro290Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.13778,3.19592,2.748909017806263,Destabilizing,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3324,0.4081,-22.2096,loss_of_function,-5.96802176698061,0.23655072643573388,0.9845694849084952,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290F,NP_000240:p.Pro290Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.83617,0.66599,2.24312379610596,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3511,0.4081,-22.2096,loss_of_function,-5.5143592478415,0.2925558044384901,0.9548945233121608,Pathogenic,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290G,NP_000240:p.Pro290Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.60022,2.26565,2.239223608657848,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.55,-,-0.2314,0.4081,-7.9218,loss_of_function,-5.59894541754937,0.2821135597464815,0.8904889104292256,Pathogenic,0.8831,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290H,NP_000240:p.Pro290His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.68191,1.9602,2.4294360416261096,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3287,0.4081,-22.2096,loss_of_function,-4.96712939452215,0.360111860598354,0.948714023170288,Pathogenic,0.9719,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290I,NP_000240:p.Pro290Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.34089,1.08129,1.4563447128679707,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.2663,0.4081,-8.9217,loss_of_function,-6.67469689779294,0.14931099612066107,0.9713934105135686,Pathogenic,0.9733,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290K,NP_000240:p.Pro290Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.7623,4.70306,4.842805833955308,Destabilizing,Destabilizing,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3241,0.4081,-22.2096,loss_of_function,-5.9646498030625,0.23696699865195003,0.9776888004379792,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290L,NP_000240:p.Pro290Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.35026,0.85646,1.0936774705359409,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3387,0.4081,-22.2096,loss_of_function,-6.67469689779294,0.14931099612066107,0.9483438413697208,Pathogenic,0.8611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290M,NP_000240:p.Pro290Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.33217,0.82177,1.2879789011813303,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.2897,0.4081,-22.2096,loss_of_function,-6.67469689779294,0.14931099612066107,0.9839157676933784,Pathogenic,0.9749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290N,NP_000240:p.Pro290Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.25318,2.32109,1.92476561605201,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.55,-,-0.3167,0.4081,-22.2096,loss_of_function,-5.96802176698061,0.23655072643573388,0.9771183681755732,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290Q,NP_000240:p.Pro290Gln,"hg19,3:g.37059075C>A, hg38,3:g.37017584C>A",,,0.963,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",6.86864,1.8534,2.1385737160836884,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3184,0.4081,-22.2096,loss_of_function,-4.3707175455231,0.4337394818273352,0.9186620998741302,Pathogenic,0.9846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290R,NP_000240:p.Pro290Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",13.91218,4.15374,4.200382085387806,Destabilizing,Destabilizing,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3598,0.4081,-22.2096,loss_of_function,-5.19111540169431,0.3324605707650932,0.9482461759169544,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290S,NP_000240:p.Pro290Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.17807,2.02313,1.5236912913802407,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1478001,Uncertain significance,2,93.55,-,-0.2042,0.4081,-5.4624,loss_of_function,-3.30053065114082,0.5658550919313924,0.3533994500259684,Uncertain,0.7966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290T,NP_000240:p.Pro290Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.21941,2.70816,1.5400628010418,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.55,-,-0.3018,0.4081,-22.2096,loss_of_function,-4.8306309389115,0.3769627273356744,0.9200549895052452,Pathogenic,0.9005,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290V,NP_000240:p.Pro290Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.51764,1.6017,1.128963084188232,Uncertain,Uncertain,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.2895,0.4081,-22.2096,loss_of_function,-6.67469689779294,0.14931099612066107,0.9342294213027263,Pathogenic,0.9251,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290W,NP_000240:p.Pro290Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",14.6545,2.81565,3.8558830714450143,Uncertain,Destabilizing,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.3636,0.4081,-22.2096,loss_of_function,-5.92268182677349,0.24214798603028592,0.9858363481878738,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P290Y,NP_000240:p.Pro290Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.39508,1.23844,3.311040344786924,Uncertain,Destabilizing,False,0.047,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.55,-,-0.2792,0.4081,-7.9218,loss_of_function,-5.02958077803788,0.3524021767306726,0.8958697748741188,Pathogenic,0.9851,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291A,NP_000240:p.Phe291Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.26121,5.12245,4.756009204823558,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.4016,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.7711553594507521,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291C,NP_000240:p.Phe291Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.16051,4.70374,5.000735031114882,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3698,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9270274121119036,Pathogenic,0.9738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291D,NP_000240:p.Phe291Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.35934,6.29592,5.884889074063864,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.5246,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9904653858166697,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291E,NP_000240:p.Phe291Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.1351,6.42755,5.41664708690549,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.494,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.980835099862855,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291G,NP_000240:p.Phe291Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.9455,7.49796,6.76385327426356,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.437,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.850897534589171,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291H,NP_000240:p.Phe291His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.33349,3.54694,2.966486488579926,Destabilizing,Uncertain,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3563,0.5161,-7.9218,loss_of_function,-2.756681370768,0.6329938130821317,0.97759216068844,Pathogenic,0.993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291I,NP_000240:p.Phe291Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.8541,4.13707,3.077318154925751,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1764444,Uncertain significance,1,95.33,E,-0.3456,0.5161,-22.2096,loss_of_function,-6.06483110865723,0.22459951930871963,0.7943791472254195,Pathogenic,0.9506,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291K,NP_000240:p.Phe291Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.54056,6.83776,5.885326452284142,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.5009,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9754874431119596,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291L,NP_000240:p.Phe291Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.28045,4.35816,2.331609498242856,Destabilizing,Uncertain,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,647064,Uncertain significance,1,95.33,E,-0.3077,0.5161,-22.2096,loss_of_function,-5.93016485781908,0.2412241985897881,0.7826775969884198,Pathogenic,0.9935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291M,NP_000240:p.Phe291Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.5709,2.92245,2.6645511018321786,Uncertain,Uncertain,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3387,0.5161,-22.2096,loss_of_function,-6.15725284509374,0.21318996630421028,0.8898320843498282,Pathogenic,0.9816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291N,NP_000240:p.Phe291Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.01727,5.05374,4.718125122426213,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.4543,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9415243836281296,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291P,NP_000240:p.Phe291Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.55174,5.9534,9.427737145739483,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.525,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9597754643644836,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291Q,NP_000240:p.Phe291Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.21559,5.04694,4.6113723620614095,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.4563,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.953637117126558,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291R,NP_000240:p.Phe291Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.21795,6.22857,4.974053609935483,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.5022,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9832511566124668,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291S,NP_000240:p.Phe291Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.87502,5.92041,5.638926399189269,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3806,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.8880632932067105,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291T,NP_000240:p.Phe291Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.89966,4.62653,4.6920508082558925,Destabilizing,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.4269,0.5161,-22.2096,loss_of_function,-6.76430095326821,0.1382492885637338,0.9182446721981988,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291V,NP_000240:p.Phe291Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.58394,2.7881,3.246439862039848,Uncertain,Destabilizing,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.33,E,-0.3399,0.5161,-22.2096,loss_of_function,-6.15725284509374,0.21318996630421028,0.7968087284267664,Pathogenic,0.9373,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291W,NP_000240:p.Phe291Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04644,0.68707,1.0033201836636343,Neutral,Neutral,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.33,E,-0.2306,0.5161,-3.6739,loss_of_function,-1.88640137047368,0.740430723217916,0.0213475769359699,Benign,0.7652,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F291Y,NP_000240:p.Phe291Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.98569,0.53537,0.7050938714341842,Neutral,Neutral,False,0.084,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.33,E,-0.2138,0.5161,-6.5999,loss_of_function,-0.623090913770772,0.8963876244042992,0.5991960832696706,Uncertain,0.5739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292A,NP_000240:p.Leu292Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.79499,3.03571,3.505663464159257,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.1461,2.0409,-5.4713,loss_of_function,-2.26937494486653,0.6931522640065015,0.0138256969165913,Benign,0.4561,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292C,NP_000240:p.Leu292Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.82175,2.28673,3.3428200383497506,Uncertain,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.1296,2.0409,-4.3458,loss_of_function,-1.90451658502044,0.7381943824118621,0.0134459952463765,Benign,0.4971,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292D,NP_000240:p.Leu292Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.78448,4.05816,4.326570438318777,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.3531,2.0409,-22.2185,loss_of_function,-4.11811448748021,0.4649235743467544,0.7285468768648469,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292E,NP_000240:p.Leu292Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.26146,3.45748,3.983685225680112,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.3212,2.0409,-22.2185,loss_of_function,-4.778182160844,0.3834375798590738,0.8371508053944943,Pathogenic,0.9711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292F,NP_000240:p.Leu292Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.12688,2.06088,1.854486970736413,Uncertain,Uncertain,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.49,E,-0.0892,2.0409,-7.3457,loss_of_function,-2.90140745340011,0.6151272378088959,0.1045317595245871,Benign,0.237,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292G,NP_000240:p.Leu292Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.74393,5.58741,5.467196181423401,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.3065,2.0409,-22.2185,loss_of_function,-4.95127487477343,0.36206911643890316,0.4531064058228079,Uncertain,0.8641,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292H,NP_000240:p.Leu292His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.44809,4.21429,3.0635568754212894,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.274,2.0409,-22.2185,loss_of_function,-3.94164411216979,0.48670901334045974,0.8402636834547499,Pathogenic,0.8638,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292I,NP_000240:p.Leu292Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0361,-0.83367,0.487944470540595,Neutral,Neutral,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.49,E,-0.0064,2.0409,-2.7608,loss_of_function,-0.978132038434895,0.8525574532040567,0.0006300018333643,Benign,0.0893,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292K,NP_000240:p.Leu292Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.7707,5.16429,5.186016282092492,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.49,E,-0.3202,2.0409,-22.2185,loss_of_function,-4.95127487477343,0.36206911643890316,0.8298021878517506,Pathogenic,0.9771,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292M,NP_000240:p.Leu292Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.2968,0.63367,1.638994726987903,Neutral,Neutral,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1764525,Uncertain significance,1,95.49,E,-0.048,2.0409,-6.3458,loss_of_function,-1.70117590659852,0.7632969863866484,0.0029321306559869,Benign,0.1349,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292N,NP_000240:p.Leu292Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.47612,3.17993,3.155073039174593,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.2994,2.0409,-22.2185,loss_of_function,-4.778182160844,0.3834375798590738,0.8421535336426061,Pathogenic,0.9443,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292P,NP_000240:p.Leu292Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",7.95369,5.92891,6.205270471049251,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90404,Pathogenic/Likely pathogenic,2,95.49,E,-0.315,2.0409,-22.2185,loss_of_function,-4.95127487477343,0.36206911643890316,0.822237542247966,Pathogenic,0.9899,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292Q,NP_000240:p.Leu292Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.79639,3.02483,3.108956056109624,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.2524,2.0409,-22.2185,loss_of_function,-4.778182160844,0.3834375798590738,0.836699591678162,Pathogenic,0.8221,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292R,NP_000240:p.Leu292Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.24859,3.91054,4.217669753642936,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.49,E,-0.3118,2.0409,-22.2185,loss_of_function,-4.95127487477343,0.36206911643890316,0.8024063157040822,Pathogenic,0.9383,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292S,NP_000240:p.Leu292Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.56437,3.53061,4.155117209678026,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.1891,2.0409,-7.9307,loss_of_function,-2.54597562183714,0.6590056421547543,0.1092974212837423,Benign,0.6843,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292T,NP_000240:p.Leu292Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.48556,2.24932,2.892451272981212,Uncertain,Uncertain,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.1516,2.0409,-5.9307,loss_of_function,-2.70489633902106,0.639386725478479,0.0577104399424321,Benign,0.5487,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292V,NP_000240:p.Leu292Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.18585,0.0068,0.9881615314867908,Neutral,Neutral,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.49,E,-0.0374,2.0409,-1.7213,loss_of_function,-0.966238639032515,0.854025704895892,0.0004571705320873,Benign,0.0869,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292W,NP_000240:p.Leu292Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.23581,3.87551,3.1965772034626543,Destabilizing,Destabilizing,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.49,E,-0.2642,2.0409,-22.2185,loss_of_function,-3.94164411216979,0.48670901334045974,0.6475954263630181,Uncertain,0.7984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L292Y,NP_000240:p.Leu292Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.41091,2.91088,2.904376532800093,Uncertain,Uncertain,False,0.127,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.49,E,-0.2571,2.0409,-22.2185,loss_of_function,-2.90810037451387,0.6143009902058236,0.1909238113387802,Benign,0.7977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293A,NP_000240:p.Tyr293Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.18466,3.74558,3.760150896886519,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4374,0.1576,-22.2185,loss_of_function,-4.93679292063996,0.3638569277229749,0.9414608447491402,Pathogenic,0.9881,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293C,NP_000240:p.Tyr293Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.31721,3.41803,4.063009543585465,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4081,0.1576,-22.2185,loss_of_function,-5.21359109473097,0.3296859246601586,0.9532856593740042,Pathogenic,0.7914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293D,NP_000240:p.Tyr293Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.84159,4.91361,5.0402224496580805,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4516,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9907056376876876,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293E,NP_000240:p.Tyr293Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.99807,5.5068,4.483942820727689,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4804,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.993003184336491,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293F,NP_000240:p.Tyr293Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02975,0.48844,-0.0704289963624515,Neutral,Neutral,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,damaging,uncertain,-,uncertain,uncertain,neutral,,,,96.67,E,-0.1953,0.1576,-6.6088,loss_of_function,-2.52792069285832,0.661234540648974,0.394591057556207,Uncertain,0.2362,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293G,NP_000240:p.Tyr293Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.82693,6.89422,5.626273176717078,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.508,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9949855505652558,Pathogenic,0.9821,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293H,NP_000240:p.Tyr293His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.26493,2.5949,2.472564959285028,Uncertain,Uncertain,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.2693,0.1576,-7.3457,loss_of_function,-4.14428981213747,0.4616922051299209,0.9740856613285144,Pathogenic,0.954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293I,NP_000240:p.Tyr293Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.5853,3.82143,2.248852274568991,Destabilizing,Uncertain,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4495,0.1576,-22.2185,loss_of_function,-5.68200339756007,0.27185997155480573,0.9401559795854794,Pathogenic,0.9494,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293K,NP_000240:p.Tyr293Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.62791,4.51327,5.461065160562484,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.5056,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9951101879466672,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293L,NP_000240:p.Tyr293Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.98517,1.53197,1.618172914193549,Neutral,Neutral,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,damaging,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4266,0.1576,-22.2185,loss_of_function,-4.34165940871964,0.437326736999706,0.8418422976205429,Pathogenic,0.7995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293M,NP_000240:p.Tyr293Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94054,2.19728,2.122920627797309,Uncertain,Uncertain,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,damaging,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.3787,0.1576,-22.2185,loss_of_function,-5.08869599342555,0.34510434605420665,0.9528934540688808,Pathogenic,0.9664,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293N,NP_000240:p.Tyr293Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.10879,3.62245,3.905694177613457,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4306,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9808737937919094,Pathogenic,0.9795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293P,NP_000240:p.Tyr293Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.97561,7.54422,8.722455060549553,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.5616,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9954496263677068,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293Q,NP_000240:p.Tyr293Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.2012,3.76769,3.684637537500349,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4552,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.9928067712515708,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293R,NP_000240:p.Tyr293Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.72821,4.86259,4.319772626676739,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.501,0.1576,-22.2185,loss_of_function,-7.39513015729392,0.060372811474730274,0.994545887664304,Pathogenic,0.994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293S,NP_000240:p.Tyr293Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.25299,4.40918,4.771450919037206,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.4422,0.1576,-22.2185,loss_of_function,-5.01513012915241,0.3541861233515153,0.966557687902717,Pathogenic,0.9599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293T,NP_000240:p.Tyr293Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.1448,3.81667,3.783033709968583,Destabilizing,Destabilizing,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,neutral,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.393,0.1576,-8.9306,loss_of_function,-2.91372134198938,0.6136070763190995,0.9501558976803336,Pathogenic,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293V,NP_000240:p.Tyr293Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.62641,2.43776,2.4829903656022,Uncertain,Uncertain,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,damaging,uncertain,DOWN,neutral,neutral,neutral,,,,96.67,E,-0.439,0.1576,-22.2185,loss_of_function,-4.98875950264917,0.35744160277066167,0.9284081446449032,Pathogenic,0.8928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y293W,NP_000240:p.Tyr293Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.92569,2.20272,0.8802268706312683,Uncertain,Neutral,False,0.147,,,,,,,,,,5.5,P,True,5.5,3.545,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,96.67,E,-0.355,0.1576,-22.2185,loss_of_function,-4.4495966501304,0.424001779857372,0.9924345505390958,Pathogenic,0.8918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294A,NP_000240:p.Leu294Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.07726,2.82449,4.253024606658356,Uncertain,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.2426,1.1288,-7.9307,loss_of_function,-2.71666329943085,0.6379340828029143,0.6012022980487564,Uncertain,0.6553,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294C,NP_000240:p.Leu294Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.09871,2.56054,3.983180411626983,Uncertain,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3048,1.1288,-22.2185,loss_of_function,-4.84466818779589,0.3752298153459287,0.629289089846216,Uncertain,0.5755,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294D,NP_000240:p.Leu294Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.54449,4.15884,5.028522056628708,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.4371,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.904149238295977,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294E,NP_000240:p.Leu294Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.42494,3.38401,4.591673242693664,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.4051,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.9240205794074297,Pathogenic,0.9898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294F,NP_000240:p.Leu294Phe,"hg19,3:g.37059086C>T",,,0.738,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.73537,-0.19082,1.2053257594296936,Uncertain,Uncertain,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1490079,Uncertain significance,2,95.98,E,-0.1669,1.1288,-6.1234,loss_of_function,-1.28519923006216,0.8146497105679521,0.0442836906836798,Benign,0.1542,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294G,NP_000240:p.Leu294Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.872,4.79354,6.1025252666011305,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3226,1.1288,-8.9306,loss_of_function,-2.95905684777956,0.6080103641576196,0.9007454792392788,Pathogenic,0.9503,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294H,NP_000240:p.Leu294His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.46711,1.95068,2.815053680303221,Uncertain,Uncertain,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3579,1.1288,-22.2185,loss_of_function,-4.39942190951268,0.43019590025196824,0.9030425056177992,Pathogenic,0.9527,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294I,NP_000240:p.Leu294Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00819,-0.24252,1.7528939526971077,Neutral,Neutral,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.98,E,-0.0921,1.1288,-3.0979,loss_of_function,-0.404433410035248,0.9233811053201008,0.0053570677026931,Benign,0.0748,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294K,NP_000240:p.Leu294Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.83671,4.72721,5.695133096546421,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.98,E,-0.3282,1.1288,-7.3457,loss_of_function,-5.44433471944249,0.3012004003873351,0.8813475158218806,Pathogenic,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294M,NP_000240:p.Leu294Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.36451,0.2432,1.837089398959999,Neutral,Neutral,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,95.98,E,-0.1212,1.1288,-4.2303,loss_of_function,-1.0621774749951,0.8421819625435937,0.0017998924289132,Benign,0.1076,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294N,NP_000240:p.Leu294Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.09056,2.84694,3.702375448196149,Uncertain,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3834,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.8955457180899288,Pathogenic,0.982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294P,NP_000240:p.Leu294Pro,"hg19,3:g.37059087T>C",,,0.945,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",8.67299,3.83231,7.925476980711448,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3989,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.8900330305892135,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294Q,NP_000240:p.Leu294Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.91345,2.42483,3.53193555403768,Uncertain,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3363,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.8473451070331712,Pathogenic,0.945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294R,NP_000240:p.Leu294Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",7.80064,3.47075,4.582684201058152,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1764781,Uncertain significance,1,95.98,E,-0.3957,1.1288,-22.2185,loss_of_function,-5.44433471944249,0.3012004003873351,0.8911270879040845,Pathogenic,0.978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294S,NP_000240:p.Leu294Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.08564,3.7119,5.11104642370377,Destabilizing,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3459,1.1288,-22.2185,loss_of_function,-4.84466818779589,0.3752298153459287,0.9416486069743456,Pathogenic,0.9047,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294T,NP_000240:p.Leu294Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.50079,2.15544,4.032646070701519,Uncertain,Destabilizing,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.3187,1.1288,-22.2185,loss_of_function,-4.84466818779589,0.3752298153459287,0.8288393312158933,Pathogenic,0.768,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294V,NP_000240:p.Leu294Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.89578,0.50816,2.3023949108948374,Neutral,Uncertain,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,95.98,E,-0.1438,1.1288,-6.1234,loss_of_function,-1.89035912645833,0.7399421344029157,0.0384864218984312,Benign,0.0882,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294W,NP_000240:p.Leu294Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.08286,1.60476,2.412955197537628,Uncertain,Uncertain,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.98,E,-0.3481,1.1288,-22.2185,loss_of_function,-4.39942190951268,0.43019590025196824,0.8997328025009332,Pathogenic,0.8175,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L294Y,NP_000240:p.Leu294Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.98104,0.80306,2.068809000907178,Uncertain,Uncertain,False,0.128,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,95.98,E,-0.341,1.1288,-22.2185,loss_of_function,-4.39942190951268,0.43019590025196824,0.9330464973810724,Pathogenic,0.8171,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295A,NP_000240:p.Ser295Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71068,-0.27959,-0.584377681972304,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,-,uncertain,uncertain,neutral,,,,95.49,E,-0.1349,0.6682,-5.7608,loss_of_function,-2.20947193663744,0.7005473484733344,0.1758267585673382,Benign,0.1847,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295C,NP_000240:p.Ser295Cys,"hg19,3:g.37059089A>T",,,0.938,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.86598,-0.46497,-0.0188906638649555,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2694,0.6682,-22.2185,loss_of_function,-2.60591467629819,0.6516061077456241,0.932425300442378,Pathogenic,0.1988,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295D,NP_000240:p.Ser295Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.70475,0.69524,-0.1002771708022171,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2309,0.6682,-5.2303,loss_of_function,-3.10004212706214,0.5906055946861524,0.1876480181868837,Benign,0.6936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295E,NP_000240:p.Ser295Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.10691,0.97551,-0.5551787970897115,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2908,0.6682,-22.2185,loss_of_function,-3.5056654779507,0.5405309985979372,0.7983301851281452,Pathogenic,0.9149,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295F,NP_000240:p.Ser295Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45425,-1.96701,-1.7434145698806192,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.297,0.6682,-22.2185,loss_of_function,-4.38763496534173,0.4316510099422306,0.8071390786277517,Pathogenic,0.7817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295G,NP_000240:p.Ser295Gly,"hg19,3:g.37059089A>G",,,0.890,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.87914,1.88299,0.8014495522916084,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,DOWN,neutral,neutral,neutral,90409,Pathogenic,3,95.49,E,-0.1551,0.6682,-7.9307,loss_of_function,-2.35174884827256,0.6829831257351698,0.5130684597709677,Uncertain,0.2581,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295H,NP_000240:p.Ser295His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.38916,-0.94966,-1.2470645784797767,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2982,0.6682,-22.2185,loss_of_function,-3.56877639166945,0.5327398950870033,0.6847443466607179,Pathogenic,0.6615,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295I,NP_000240:p.Ser295Ile,"hg19,3:g.37059090G>T",,,0.896,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.84029,-0.97381,-1.1720569254168738,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,1334877,Likely pathogenic,1,95.49,E,-0.2323,0.6682,-8.9306,loss_of_function,-4.19235680184415,0.4557582886296361,0.9439821168102288,Pathogenic,0.8579,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295K,NP_000240:p.Ser295Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.04421,0.77925,-0.6485184367199215,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.3075,0.6682,-22.2185,loss_of_function,-5.28278725868161,0.3211435911059097,0.8337389940815818,Pathogenic,0.965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295L,NP_000240:p.Ser295Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.87163,-1.67619,-1.5443897900814283,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2963,0.6682,-22.2185,loss_of_function,-4.41929725251376,0.42774226988104985,0.8723386816119072,Pathogenic,0.5549,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295M,NP_000240:p.Ser295Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.77398,-1.41633,-1.1220512154363382,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2674,0.6682,-22.2185,loss_of_function,-5.19518231397859,0.33195850649903114,0.895297203945641,Pathogenic,0.6841,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295N,NP_000240:p.Ser295Asn,"hg19,3:g.37059090G>A",,,0.688,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-1.31452,0.08605,-0.4512020743252226,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,90415,Pathogenic,3,95.49,E,-0.1572,0.6682,-5.7608,loss_of_function,-1.77496547004434,0.7541875932095028,0.1790807745815702,Benign,0.4134,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295P,NP_000240:p.Ser295Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.47854,2.52653,3.988863966621752,Uncertain,Destabilizing,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,neutral,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2965,0.6682,-7.3457,loss_of_function,-6.03949103167505,0.2277277763899436,0.985132306516246,Pathogenic,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295Q,NP_000240:p.Ser295Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.51475,0.47687,-0.6274589062086855,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2608,0.6682,-22.2185,loss_of_function,-3.78732003814474,0.5057604699604099,0.7339540187899727,Pathogenic,0.8304,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295R,NP_000240:p.Ser295Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.5199,0.69796,-0.9930564175359186,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,90408,Pathogenic,3,95.49,E,-0.2318,0.6682,-6.3458,loss_of_function,-3.70579910920308,0.5158243077068004,0.2720269910099703,Benign,0.9279,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295T,NP_000240:p.Ser295Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20474,0.09932,-0.5346888401188965,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,neutral,damaging,uncertain,UP,neutral,neutral,neutral,90416,Uncertain significance,3,95.49,E,-0.1418,0.6682,-8.9306,loss_of_function,-2.59107965796008,0.6534375051482018,0.8506358206154118,Pathogenic,0.3344,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295V,NP_000240:p.Ser295Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30157,-1.95578,-1.1151997409722625,Neutral,Neutral,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,damaging,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.2743,0.6682,-22.2185,loss_of_function,-4.72890299003979,0.3895211412915637,0.9635816653433268,Pathogenic,0.7763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295W,NP_000240:p.Ser295Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.53247,-0.64592,-2.121125201875876,Uncertain,Uncertain,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,neutral,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.3067,0.6682,-22.2185,loss_of_function,-4.81917793010806,0.3783766123809281,0.9573793779634192,Pathogenic,0.8664,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S295Y,NP_000240:p.Ser295Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.35852,-1.67619,-1.5423620073881417,Uncertain,Uncertain,False,0.11,,,,,,,,,,3.3,P,True,3.3,4.671,uncertain,neutral,uncertain,UP,neutral,neutral,neutral,,,,95.49,E,-0.3018,0.6682,-22.2185,loss_of_function,-4.81917793010806,0.3783766123809281,0.8454566633477092,Pathogenic,0.7276,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296A,NP_000240:p.Leu296Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.88123,4.0415,3.896233478886292,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.3649,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.949170562079232,Pathogenic,0.8816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296C,NP_000240:p.Leu296Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.61939,3.69014,3.819841384759111,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.3541,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9338365160103268,Pathogenic,0.8532,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296D,NP_000240:p.Leu296Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.29517,4.46769,4.784781511428172,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4864,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.971942449636207,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296E,NP_000240:p.Leu296Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.46958,3.40442,4.229537887723187,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4545,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9747238030970578,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296F,NP_000240:p.Leu296Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.23264,0.40952,0.3433016283655249,Neutral,Neutral,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.22,E,-0.2984,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.7095271023984073,Pathogenic,0.4806,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296G,NP_000240:p.Leu296Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.07726,6.02823,5.856979984492234,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4398,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9815160914031308,Pathogenic,0.9911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296H,NP_000240:p.Leu296His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.14579,2.75408,2.393940797710691,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4073,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9392573275843232,Pathogenic,0.9939,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296I,NP_000240:p.Leu296Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.11829,0.69524,1.550901954686868,Neutral,Neutral,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.22,E,-0.1455,0.5923,-3.8893,loss_of_function,-1.82385853338137,0.7481516971183285,0.016987585567678,Benign,0.1233,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296K,NP_000240:p.Leu296Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.641,4.6949,5.24129674735891,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.22,E,-0.4535,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9795879546194736,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296M,NP_000240:p.Leu296Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21653,1.04082,1.408723503522447,Neutral,Neutral,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.22,E,-0.1776,0.5923,-5.6118,loss_of_function,-1.86313215439259,0.743303330512337,0.1992344747169762,Benign,0.1743,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296N,NP_000240:p.Leu296Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.34508,3.51973,3.535550329079159,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4327,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9746732568457592,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296P,NP_000240:p.Leu296Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.46779,5.13673,7.555267195350337,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.4483,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9801974906259356,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296Q,NP_000240:p.Leu296Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.55503,2.54694,3.088841726732793,Uncertain,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.3857,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9755455130998713,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296R,NP_000240:p.Leu296Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.20074,4.55884,4.009333117530438,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.22,E,-0.4451,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9732223571474008,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296S,NP_000240:p.Leu296Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",5.55021,4.73776,4.8773216162001,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,232668,Conflicting classifications of pathogenicity,1,93.22,E,-0.3953,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9802662256940576,Pathogenic,0.9846,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296T,NP_000240:p.Leu296Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.72223,3.50034,3.8906141209304574,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.368,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9729357156548084,Pathogenic,0.9158,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296V,NP_000240:p.Leu296Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.65591,1.69354,2.3839877595097327,Neutral,Uncertain,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.22,E,-0.1943,0.5923,-6.3487,loss_of_function,-0.862974283499949,0.866773789744251,0.0839231228618302,Benign,0.1352,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296W,NP_000240:p.Leu296Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.66606,1.38776,1.5201278507196974,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.22,E,-0.3975,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9811274492075904,Pathogenic,0.9517,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L296Y,NP_000240:p.Leu296Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.5991,1.39966,1.4475826950776272,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.3,,True,0.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.22,E,-0.3904,0.5923,-22.2214,loss_of_function,-6.22987129643118,0.20422514805272582,0.9224787841772502,Pathogenic,0.9763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297A,NP_000240:p.Glu297Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.34237,0.55374,0.4908476062736744,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.0888,1.6535,-6.6176,loss_of_function,-2.69991068043529,0.6400022098665679,0.3090546205069386,Benign,0.1753,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297C,NP_000240:p.Glu297Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.18194,0.7483,1.212041644034949,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.1649,1.6535,-7.9395,loss_of_function,-2.90301339130507,0.6149289832169019,0.4716791351434779,Uncertain,0.6995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297D,NP_000240:p.Glu297Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16131,0.42653,0.527317121527312,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.0411,1.6535,-3.9854,loss_of_function,-0.0848410147853122,0.9628350964918332,0.0349653305035495,Benign,0.1392,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297F,NP_000240:p.Glu297Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.95731,-1.24864,0.0938456165022766,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.2154,1.6535,-22.2273,loss_of_function,-3.3415419430687,0.5607922081653424,0.617688683199451,Uncertain,0.708,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297G,NP_000240:p.Glu297Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.8617,2.38673,1.414726001003738,Uncertain,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.1942,1.6535,-22.2273,loss_of_function,-5.35314298608538,0.31245810831869153,0.7900098864905747,Pathogenic,0.283,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297H,NP_000240:p.Glu297His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.40393,-0.24558,0.1338067780829549,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.1271,1.6535,-6.6176,loss_of_function,-2.99023780992374,0.6041610441379723,0.2323166719734728,Benign,0.372,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297I,NP_000240:p.Glu297Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.17301,-0.69558,-0.364471341355933,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.153,1.6535,-8.9394,loss_of_function,-2.64277482784324,0.6470556862860966,0.4953710302206604,Uncertain,0.2813,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297K,NP_000240:p.Glu297Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04638,0.41395,0.5164605162176735,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.1095,1.6535,-6.3546,loss_of_function,-2.88410537736146,0.6172631958774465,0.2503301542183086,Benign,0.2126,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297L,NP_000240:p.Glu297Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.77539,-0.71463,-0.5274350063880795,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.1357,1.6535,-5.1322,loss_of_function,-2.16937283494179,0.7054976214704668,0.2052075772683409,Benign,0.3152,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297M,NP_000240:p.Glu297Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.01381,0.00442,0.0365939551256183,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.0886,1.6535,-5.9396,loss_of_function,-2.63228450693713,0.6483507265766975,0.2627691329079271,Benign,0.3563,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297N,NP_000240:p.Glu297Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01311,0.15612,0.4499151272851759,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.1125,1.6535,-6.1322,loss_of_function,-2.27662429181546,0.6922573250943904,0.1078154132232078,Benign,0.2319,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297P,NP_000240:p.Glu297Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.51354,2.32721,2.556064623408237,Uncertain,Uncertain,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.3254,1.6535,-22.2273,loss_of_function,-5.35314298608538,0.31245810831869153,0.9393645721980703,Pathogenic,0.9731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297Q,NP_000240:p.Glu297Gln,"hg19,3:g.37061805G>C",,,0.511,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.27387,0.23367,0.3514923847645484,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.0507,1.6535,-4.5473,loss_of_function,-0.696896184412118,0.8872762921586314,0.0403712821442825,Benign,0.1165,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297R,NP_000240:p.Glu297Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.46964,0.66497,0.1898924636540394,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.251,1.6535,-22.2273,loss_of_function,-2.93910089478372,0.610473945910576,0.2431404050445603,Benign,0.3295,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297S,NP_000240:p.Glu297Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.67222,0.51429,0.8084275858665413,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.0979,1.6535,-5.7696,loss_of_function,-2.44605790304842,0.6713405814511255,0.0857632971709505,Benign,0.203,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297T,NP_000240:p.Glu297Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.1834,0.22823,0.5172606388489898,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.67,E,-0.113,1.6535,-5.6176,loss_of_function,-2.65616054555358,0.6454032064517187,0.1248594641265375,Benign,0.2106,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297V,NP_000240:p.Glu297Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28449,-0.57381,-0.100121144945619,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.67,E,-0.1007,1.6535,-6.3546,loss_of_function,-2.19541695684551,0.7022824493608134,0.3125412502509086,Benign,0.1622,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297W,NP_000240:p.Glu297Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.5567,-0.83673,-0.338550682270618,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.2255,1.6535,-22.2273,loss_of_function,-4.13953881968752,0.46227871975593604,0.8357204485013101,Pathogenic,0.9002,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E297Y,NP_000240:p.Glu297Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20025,-1.0898,0.1717462921743062,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,42.4,,True,42.4,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.67,E,-0.2163,1.6535,-22.2273,loss_of_function,-3.67559128928117,0.5195534923752412,0.7633044089711073,Pathogenic,0.5797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298A,NP_000240:p.Ile298Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.25153,4.34558,3.5548074685794484,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.3388,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.7699950952904778,Pathogenic,0.963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298C,NP_000240:p.Ile298Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.32453,3.49694,3.3765455428435254,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.3188,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.7710580929585569,Pathogenic,0.9694,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298D,NP_000240:p.Ile298Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.6748,4.83469,4.565273287298713,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4628,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.953078445100467,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298E,NP_000240:p.Ile298Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.00472,4.41088,4.246181225483841,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4437,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.9509740118331234,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298F,NP_000240:p.Ile298Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.37279,1.4602,0.7456203978384918,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.94,E,-0.232,0.9503,-8.9394,loss_of_function,-4.49260165801471,0.41869276992276155,0.5560789437407494,Uncertain,0.706,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298G,NP_000240:p.Ile298Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.81162,6.31871,5.908649423506165,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4295,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.8251482472856205,Pathogenic,0.9947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298H,NP_000240:p.Ile298His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.61368,4.01463,2.803764261446269,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4294,0.9503,-22.2273,loss_of_function,-5.85441789049307,0.2505752351744626,0.965303411604107,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298K,NP_000240:p.Ile298Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.58401,4.4585,5.604252236428168,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.94,E,-0.4363,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.959250336501,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298L,NP_000240:p.Ile298Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.59872,1.21395,0.7760927985182292,Neutral,Neutral,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2752018,Uncertain significance,1,89.94,E,-0.1256,0.9503,-2.9396,loss_of_function,-1.06267070525561,0.8421210727895413,0.0019486930569484,Benign,0.1898,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298M,NP_000240:p.Ile298Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.68892,2.31769,1.3281732706881717,Uncertain,Neutral,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,954147,Uncertain significance,1,89.94,E,-0.143,0.9503,-5.2391,loss_of_function,-1.67989617148206,0.7659239903263543,0.0117431173981744,Benign,0.1997,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298N,NP_000240:p.Ile298Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.43905,3.62687,3.142105921129484,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.3759,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.9671827489094704,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298P,NP_000240:p.Ile298Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.4086,3.05,6.921644696664081,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4829,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.9534960213111237,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298Q,NP_000240:p.Ile298Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.91852,3.21633,3.069912459509255,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.4035,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.9571324415740646,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298R,NP_000240:p.Ile298Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.89145,4.16088,4.435954181430496,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.94,E,-0.4631,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.9550471373992636,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298S,NP_000240:p.Ile298Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.19286,4.82211,4.522078070050154,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.3115,0.9503,-8.9394,loss_of_function,-6.48613816128239,0.17258875502923068,0.8333682938340613,Pathogenic,0.9831,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298T,NP_000240:p.Ile298Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.13344,3.06395,3.2384113442101103,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,947047,Uncertain significance,1,89.94,E,-0.2962,0.9503,-22.2273,loss_of_function,-6.48613816128239,0.17258875502923068,0.60772214258675,Uncertain,0.971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298V,NP_000240:p.Ile298Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.67482,0.98537,1.3289561777455343,Neutral,Neutral,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.94,E,-0.0969,0.9503,-5.1322,loss_of_function,-0.898396521919649,0.8624008800547045,0.0699359332668733,Benign,0.1818,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298W,NP_000240:p.Ile298Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.69407,4.40578,2.6368904701357,Destabilizing,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.94,E,-0.3887,0.9503,-22.2273,loss_of_function,-5.85441789049307,0.2505752351744626,0.9045342624771372,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I298Y,NP_000240:p.Ile298Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.12288,2.22177,2.0143231980468634,Uncertain,Uncertain,False,0.027,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.94,E,-0.3975,0.9503,-22.2273,loss_of_function,-5.85441789049307,0.2505752351744626,0.9535417208385348,Pathogenic,0.9849,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299A,NP_000240:p.Ser299Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.56771,0.37143,-0.4044760478531384,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,-,uncertain,uncertain,neutral,,,,86.07,-,0.0803,2.7966,-1.9738,gain_of_function,-0.259001356535062,0.9413348333817336,4.382171090528586e-05,Benign,0.0531,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299C,NP_000240:p.Ser299Cys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27222,0.60884,0.2224424744225778,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,663156,Uncertain significance,1,86.07,-,-0.0058,2.7966,-8.9394,loss_of_function,-2.66486568805912,0.6443285481661432,0.0566706655568213,Benign,0.0848,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299D,NP_000240:p.Ser299Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.41226,-0.97211,-0.1143720345740023,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0189,2.7966,-2.0692,loss_of_function,-0.222753595686223,0.9458096546158458,0.0002388656401023,Benign,0.2312,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299E,NP_000240:p.Ser299Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.74357,-0.07415,-0.3494222266727576,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0008,2.7966,-3.7697,loss_of_function,-1.20755744206007,0.8242346646029077,0.0004127899819524,Benign,0.3385,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299F,NP_000240:p.Ser299Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.95026,0.54524,-0.9228393610117508,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.1012,2.7966,-22.2273,loss_of_function,-3.57869388397854,0.5315155710423008,0.0630146609223919,Benign,0.1542,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299G,NP_000240:p.Ser299Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.56424,2.07789,0.5965334816394549,Uncertain,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,DOWN,neutral,neutral,neutral,230892,Uncertain significance,1,86.07,-,0.0356,2.7966,-8.9394,gain_of_function,-2.26476766804585,0.6937210367986909,0.2065488134696468,Benign,0.1387,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299H,NP_000240:p.Ser299His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44077,-0.30646,-0.6600045772758384,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0244,2.7966,-6.9395,loss_of_function,-2.58087407700653,0.6546973940154848,0.000848474476327,Benign,0.246,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299I,NP_000240:p.Ser299Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.18717,0.13639,-1.03356725759078,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0365,2.7966,-8.9394,loss_of_function,-2.98558738555451,0.6047351435368798,0.02904640260787,Benign,0.1743,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299K,NP_000240:p.Ser299Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.21432,0.29728,-0.4399176456689696,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.024,2.7966,-5.0327,loss_of_function,-1.88747807889919,0.7402978025184688,0.0014788834373237,Benign,0.5072,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299L,NP_000240:p.Ser299Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.49879,-0.07619,-1.2078427956048845,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0246,2.7966,-7.3546,loss_of_function,-1.34223121686648,0.8076090564806597,0.0111883402733855,Benign,0.0664,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299M,NP_000240:p.Ser299Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.03943,0.5051,-0.7207891577774733,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0038,2.7966,-8.9394,loss_of_function,-1.65439514262134,0.7690721170730941,0.0230151905475879,Benign,0.1596,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299N,NP_000240:p.Ser299Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31819,-0.48673,-0.4053028539992387,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,483580,Uncertain significance,2,86.07,-,0.0501,2.7966,-3.5133,gain_of_function,-0.298475194402876,0.9364617498106019,0.0001760154550218,Benign,0.1213,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299P,NP_000240:p.Ser299Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71414,1.19218,2.627259742479162,Neutral,Uncertain,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.0832,2.7966,-3.9396,loss_of_function,-1.24541769167832,0.8195607800662313,0.001893693989256,Benign,0.1395,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299Q,NP_000240:p.Ser299Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.66705,-0.0051,-0.2526694138911972,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,0.0028,2.7966,-8.9394,gain_of_function,-0.408908100205816,0.9228287004784655,0.0377001437049624,Benign,0.3415,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299R,NP_000240:p.Ser299Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-1.26938,0.22313,-0.8116636463304744,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,525789,Uncertain significance,2,86.07,-,-0.0411,2.7966,-7.3546,loss_of_function,-2.36861621061484,0.6809008334940723,0.0161893574256931,Benign,0.4783,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299T,NP_000240:p.Ser299Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2467,0.24932,-0.4189249777051596,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,neutral,,,UP,neutral,neutral,neutral,,,,86.07,-,0.0591,2.7966,-7.9395,gain_of_function,-0.340729000018755,0.9312454765246332,0.0034321371726515,Benign,0.0903,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299V,NP_000240:p.Ser299Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71033,-0.05714,-0.931153877197362,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,0.0011,2.7966,-6.6176,gain_of_function,-1.06430859685192,0.8419188734833578,0.0566481672055411,Benign,0.1428,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299W,NP_000240:p.Ser299Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.68955,0.06224,-1.282810030053223,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.1109,2.7966,-22.2273,loss_of_function,-3.57869388397854,0.5315155710423008,0.3542121992457598,Uncertain,0.2975,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S299Y,NP_000240:p.Ser299Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.80346,-0.13571,-0.821462506224635,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,51.7,,True,51.7,,uncertain,,,UP,neutral,neutral,neutral,,,,86.07,-,-0.106,2.7966,-22.2273,loss_of_function,-3.57869388397854,0.5315155710423008,0.0663143154768925,Benign,0.146,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300A,NP_000240:p.Pro300Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.25112,0.52551,0.2999329124227529,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,80.51,G,-0.2176,0.3154,-6.3546,loss_of_function,-2.71753502810492,0.6378264670525958,0.0452703092257611,Benign,0.1454,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300C,NP_000240:p.Pro300Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.70198,1.14694,0.9888045849988304,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,80.51,G,-0.3313,0.3154,-22.2273,loss_of_function,-5.13023013803354,0.33997691561767335,0.9073944402750326,Pathogenic,0.7751,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300D,NP_000240:p.Pro300Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.51392,3.20612,0.9380302391793351,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,80.51,G,-0.3572,0.3154,-22.2273,loss_of_function,-6.03001948795529,0.22889704764876018,0.923341187205614,Pathogenic,0.9311,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300E,NP_000240:p.Pro300Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.74478,2.67619,0.5837821186594269,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.341,0.3154,-22.2273,loss_of_function,-4.91609947357717,0.3664115538338044,0.8590208301565951,Pathogenic,0.8058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300F,NP_000240:p.Pro300Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.55671,2.99014,-0.7353596756273034,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3597,0.3154,-22.2273,loss_of_function,-5.51022447703551,0.29306624590487446,0.7045148910535575,Pathogenic,0.9249,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300G,NP_000240:p.Pro300Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.75747,1.98537,1.3622215763353256,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,80.51,G,-0.2401,0.3154,-7.9395,loss_of_function,-3.61075825452684,0.5275571933983321,0.4768051974275172,Uncertain,0.5711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300H,NP_000240:p.Pro300His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.39674,4.54048,-0.0555911362365085,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3373,0.3154,-22.2273,loss_of_function,-5.52532107861623,0.2912025557972826,0.8616148096214093,Pathogenic,0.5743,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300I,NP_000240:p.Pro300Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11334,1.56224,-0.1989182242374576,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3428,0.3154,-22.2273,loss_of_function,-6.54217093115543,0.16567145524126245,0.9652548105000878,Pathogenic,0.8687,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300K,NP_000240:p.Pro300Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11491,6.23571,0.3683384893589259,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3327,0.3154,-22.2273,loss_of_function,-5.24323641546189,0.32602618106242315,0.8766615328818822,Pathogenic,0.8249,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300L,NP_000240:p.Pro300Leu,"hg38,3:g.37020324C>T",,,0.873,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.00124,0.41395,-0.6176424136856945,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2102985,Uncertain significance,1,80.51,G,-0.3473,0.3154,-22.2273,loss_of_function,-6.54217093115543,0.16567145524126245,0.7934863986137266,Pathogenic,0.5298,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300M,NP_000240:p.Pro300Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.45816,0.84082,-0.1811300209803179,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.2983,0.3154,-22.2273,loss_of_function,-6.54217093115543,0.16567145524126245,0.97478922978355,Pathogenic,0.8199,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300N,NP_000240:p.Pro300Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.80034,0.9466,0.5660788317514156,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,80.51,G,-0.3253,0.3154,-22.2273,loss_of_function,-6.03001948795529,0.22889704764876018,0.9028649959458526,Pathogenic,0.8163,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300Q,NP_000240:p.Pro300Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.35843,1.66905,0.4336648826405775,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.327,0.3154,-22.2273,loss_of_function,-4.75993199209143,0.3856905808927292,0.8413816058845491,Pathogenic,0.5165,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300R,NP_000240:p.Pro300Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.73444,5.31088,-0.1503858407521519,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2566518,Uncertain significance,1,80.51,G,-0.3006,0.3154,-8.9394,loss_of_function,-4.96652581371273,0.3601863732347002,0.8656927654361111,Pathogenic,0.6039,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300S,NP_000240:p.Pro300Ser,"hg19,3:g.37061814C>T",,,0.787,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.51723,1.89898,0.6832159617382274,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1765344,Uncertain significance,1,80.51,G,-0.2162,0.3154,-6.1322,loss_of_function,-1.66971604557214,0.767180736743812,0.0373794531105503,Benign,0.2275,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300T,NP_000240:p.Pro300Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.38788,1.70238,0.333612533603882,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,80.51,G,-0.2346,0.3154,-7.3546,loss_of_function,-3.53616844234418,0.5367653780582154,0.412788387646804,Uncertain,0.3424,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300V,NP_000240:p.Pro300Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.4211,0.98776,-0.1427499995562953,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.2981,0.3154,-22.2273,loss_of_function,-6.14384834573805,0.21484476475092326,0.8754441320950423,Pathogenic,0.6773,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300W,NP_000240:p.Pro300Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.30223,6.21871,-1.2635437444364932,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3722,0.3154,-22.2273,loss_of_function,-6.29682455512443,0.1959597033279339,0.975373959341118,Pathogenic,0.9582,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P300Y,NP_000240:p.Pro300Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.70294,4.23878,-0.6706400851197447,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,40.9,,True,40.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,80.51,G,-0.3607,0.3154,-22.2273,loss_of_function,-6.29682455512443,0.1959597033279339,0.8224889074786097,Pathogenic,0.9202,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301A,NP_000240:p.Gln301Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58417,0.55884,0.014058505340031,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,0.0342,2.604,-3.7301,gain_of_function,-1.35822110428025,0.8056350893705648,0.0042419228700156,Benign,0.1764,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301C,NP_000240:p.Gln301Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.91893,1.14184,0.599603834804997,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,-0.0386,2.604,-8.9394,loss_of_function,-2.39319737580602,0.6778662648095288,0.2727853836391464,Benign,0.5354,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301D,NP_000240:p.Gln301Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.86472,1.46599,-0.1167197253672491,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,-0.0658,2.604,-6.3546,loss_of_function,-1.98141643932461,0.728701020811529,0.3038858800352788,Benign,0.4039,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301E,NP_000240:p.Gln301Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.59735,0.67381,-0.3731075093184532,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,631158,Uncertain significance,2,81.04,G,0.0267,2.604,-4.1847,gain_of_function,-0.454458205520546,0.9172054957975363,0.0052163143717599,Benign,0.0909,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301F,NP_000240:p.Gln301Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2959,0.92109,-0.4097873633843951,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.1144,2.604,-22.2273,loss_of_function,-3.50603903833581,0.5404848822060727,0.533069731809381,Uncertain,0.7076,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301G,NP_000240:p.Gln301Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.0765,1.48844,0.6746433606842236,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,-0.0529,2.604,-6.9395,loss_of_function,-3.22213331950315,0.5755333185609749,0.0756698627731197,Benign,0.2469,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301H,NP_000240:p.Gln301His,"hg19,3:g.37061819G>C, hg19,3:g.37061819G>T, hg38,3:g.37020328G>T",,,0.450,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.78488,0.50986,-0.3879763098533878,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,0.0335,2.604,-3.6542,gain_of_function,-0.998538261946169,0.850038285119245,0.0132760539454441,Benign,0.1872,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301I,NP_000240:p.Gln301Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.5143,0.51769,-0.3567746297127844,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.0958,2.604,-22.2273,loss_of_function,-3.86749839082452,0.49586237455573595,0.1435698567670236,Benign,0.4217,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301K,NP_000240:p.Gln301Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00257,0.57109,-0.3190484466910287,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.0022,2.604,-4.3546,loss_of_function,-0.774548843270476,0.8776899961059257,0.0044651293601727,Benign,0.0953,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301L,NP_000240:p.Gln301Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.13629,0.91463,-0.506213021896112,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.0011,2.604,-6.9395,loss_of_function,-2.8936691989291,0.6160825328288073,0.0233466106103459,Benign,0.1663,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301M,NP_000240:p.Gln301Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.11463,1.1602,-0.2182711859922098,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,0.0177,2.604,-8.9394,gain_of_function,-2.81328168963157,0.626006448820807,0.1659374133109262,Benign,0.3775,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301N,NP_000240:p.Gln301Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.55183,0.99286,0.0078333445201006,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,0.0123,2.604,-4.9396,gain_of_function,-0.97138284426765,0.8533906477701619,0.0027812953759633,Benign,0.2827,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301P,NP_000240:p.Gln301Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.36429,4.16973,0.7545073278932243,Uncertain,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,-0.1609,2.604,-7.9395,loss_of_function,-2.67240872275482,0.6433973532168407,0.3917483746285757,Uncertain,0.2303,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301R,NP_000240:p.Gln301Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.15899,0.99388,-0.4345635469943565,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1765526,Uncertain significance,1,81.04,G,0.0057,2.604,-3.1067,gain_of_function,-1.62927192483584,0.7721736026761524,0.001992190573327,Benign,0.1013,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301S,NP_000240:p.Gln301Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.97272,0.77619,-0.0432661596448935,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,0.0119,2.604,-4.4801,gain_of_function,-1.28722153467945,0.8144000551014798,0.0025478119562627,Benign,0.2349,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301T,NP_000240:p.Gln301Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.78145,0.78946,-0.0808718229069865,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,81.04,G,-0.0064,2.604,-6.1322,loss_of_function,-2.12595175105252,0.7108579963914486,0.0328593596491468,Benign,0.2216,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301V,NP_000240:p.Gln301Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58822,0.8932,-0.2993469434478779,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,81.04,G,-0.0959,2.604,-22.2273,loss_of_function,-3.03757905021964,0.5983167221063651,0.1899651243995209,Benign,0.2614,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301W,NP_000240:p.Gln301Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20037,0.33605,-0.8034308585818883,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.1138,2.604,-22.2273,loss_of_function,-3.50603903833581,0.5404848822060727,0.8631396475843003,Pathogenic,0.5608,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q301Y,NP_000240:p.Gln301Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10525,0.73299,-0.3631479766930312,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,88.5,,True,88.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,81.04,G,-0.0489,2.604,-8.9394,loss_of_function,-1.46330663267407,0.7926621789660971,0.273899853320333,Benign,0.4955,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302A,NP_000240:p.Asn302Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31803,0.93163,0.8594137658611108,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.04,G,-0.0865,1.7539,-6.3546,loss_of_function,-3.06269165038577,0.5952165472587162,0.8089795275757179,Pathogenic,0.7425,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302C,NP_000240:p.Asn302Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.11353,1.03571,1.2350487342474583,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.04,G,-0.1414,1.7539,-7.3546,loss_of_function,-2.54940060149162,0.6585828250944625,0.7778191071946873,Pathogenic,0.5761,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302D,NP_000240:p.Asn302Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.66009,0.99082,1.3693197661931196,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.04,G,-0.1029,1.7539,-8.9394,loss_of_function,-2.66433226577854,0.6443943996640561,0.6951572714649574,Pathogenic,0.7214,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302E,NP_000240:p.Asn302Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.50807,1.18197,1.2385569190686876,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1978,1.7539,-22.2273,loss_of_function,-3.58955639867939,0.5301745830667423,0.88389848103567,Pathogenic,0.9418,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302F,NP_000240:p.Asn302Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.69104,-0.8381,-0.422063431855797,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1568,1.7539,-8.9394,loss_of_function,-3.1301817026342,0.586884834848892,0.7176423371862447,Pathogenic,0.8555,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302G,NP_000240:p.Asn302Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54235,2.03163,2.1610801616052187,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.04,G,-0.1982,1.7539,-22.2273,loss_of_function,-6.12243827383743,0.21748785889304956,0.9058310552620524,Pathogenic,0.8137,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302H,NP_000240:p.Asn302His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.01641,0.11531,0.4260741485882896,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3230797,Uncertain significance,1,85.04,G,-0.0833,1.7539,-4.7697,loss_of_function,-1.64066553197916,0.7707670508234553,0.0657176955937738,Benign,0.3307,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302I,NP_000240:p.Asn302Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.18899,-0.25986,0.2516364969370827,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1499,1.7539,-8.9394,loss_of_function,-4.01966062051956,0.4770777997151354,0.6404239698661882,Uncertain,0.7428,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302K,NP_000240:p.Asn302Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.79442,1.02211,0.833680696503743,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.082,1.7539,-4.8521,loss_of_function,-2.52587508772732,0.6614870725864633,0.751568140949702,Pathogenic,0.9082,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302L,NP_000240:p.Asn302Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.94521,-0.77755,-0.4482279250126025,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1461,1.7539,-6.9395,loss_of_function,-3.32821580095631,0.5624373333343701,0.3003790779848674,Benign,0.6236,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302M,NP_000240:p.Asn302Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-2.30362,0.38639,0.0598948830781775,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1783,1.7539,-22.2273,loss_of_function,-4.20945673218077,0.45364728564406565,0.5654981624424045,Uncertain,0.6617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302P,NP_000240:p.Asn302Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90419,8.14388,4.569080597415917,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,85.04,G,-0.3331,1.7539,-22.2273,loss_of_function,-6.12243827383743,0.21748785889304956,0.9836786694938,Pathogenic,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302Q,NP_000240:p.Asn302Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.62313,0.47177,0.8932642124113582,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.0834,1.7539,-6.9395,loss_of_function,-2.51797441142988,0.6624624187383833,0.6717256518614929,Uncertain,0.8176,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302R,NP_000240:p.Asn302Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47027,-0.25748,0.3048016099497663,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1038,1.7539,-2.8311,loss_of_function,-2.58534783069651,0.6541451047832867,0.257362238356419,Benign,0.8639,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302S,NP_000240:p.Asn302Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.49519,1.21667,1.4038509058618738,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1309908,Uncertain significance,1,85.04,G,-0.0471,1.7539,-4.5473,loss_of_function,-3.02907509504079,0.5993665436213257,0.2423480556259523,Benign,0.3369,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302T,NP_000240:p.Asn302Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.73367,0.43401,1.310734212861855,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1359749,Uncertain significance,1,85.04,G,-0.1048,1.7539,-6.1322,loss_of_function,-2.9572756009749,0.6082302608033165,0.1734073000138617,Benign,0.5398,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302V,NP_000240:p.Asn302Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.24023,0.5034,0.5032986376757722,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1382,1.7539,-7.9395,loss_of_function,-4.08385648789004,0.4691527576235804,0.8549434230333117,Pathogenic,0.654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302W,NP_000240:p.Asn302Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.93691,-0.58707,-0.4513324722588796,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.2297,1.7539,-22.2273,loss_of_function,-4.20870782121248,0.4537397394294826,0.9310520606333906,Pathogenic,0.9457,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N302Y,NP_000240:p.Asn302Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.48136,-0.82925,-0.0829691876102761,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,27.1,,False,27.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.04,G,-0.1353,1.7539,-7.9395,loss_of_function,-3.43951530741405,0.5486973013108679,0.2804453139819482,Benign,0.3821,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303A,NP_000240:p.Val303Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.04886,3.45544,2.961399265182736,Destabilizing,Uncertain,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.2734,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.7361227173462883,Pathogenic,0.9553,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303C,NP_000240:p.Val303Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.1117,2.57585,2.589627811333736,Uncertain,Uncertain,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.3013,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.5743426742996275,Uncertain,0.9805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303D,NP_000240:p.Val303Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.29674,4.29184,4.581948168245737,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.44,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9478888318739908,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303E,NP_000240:p.Val303Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.16642,3.63265,4.110825039480948,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.76,E,-0.3973,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9105135508432356,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303F,NP_000240:p.Val303Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.25883,2.34966,2.122672644195179,Uncertain,Uncertain,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.3505,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.7454597511352905,Pathogenic,0.9573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303G,NP_000240:p.Val303Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.4285,5.67279,5.059483748159461,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1048895,Uncertain significance,0,84.76,E,-0.3992,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9577131249570284,Pathogenic,0.987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303H,NP_000240:p.Val303His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.30176,3.93197,3.200639702888562,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.443,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9673025354867936,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303I,NP_000240:p.Val303Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.50347,-0.0898,0.1326366551449487,Neutral,Neutral,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.1095,0.8426,-2.7498,loss_of_function,-0.369543768129159,0.9276882654534676,0.0043319884401868,Benign,0.0811,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303K,NP_000240:p.Val303Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.68868,7.3051,4.696435273838218,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.4362,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9526716976204236,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303L,NP_000240:p.Val303Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.93034,1.18639,0.7120622245801785,Neutral,Neutral,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,489906,Uncertain significance,2,84.76,E,-0.1841,0.8426,-4.6176,loss_of_function,-1.47146154300961,0.7916554473755878,0.0085359054032232,Benign,0.5684,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303M,NP_000240:p.Val303Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.35727,1.20952,1.6556070647743883,Neutral,Neutral,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1765706,Uncertain significance,1,84.76,E,-0.2831,0.8426,-22.2273,loss_of_function,-2.47330674458376,0.6679766855344705,0.6311394989638845,Uncertain,0.6898,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303N,NP_000240:p.Val303Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.08538,3.29864,2.9279318019909963,Destabilizing,Uncertain,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.4278,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9527837693834106,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303P,NP_000240:p.Val303Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.07022,9.1881,5.532459228037516,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.4777,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9621895354934018,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303Q,NP_000240:p.Val303Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.00175,2.5085,3.091155136348022,Uncertain,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.76,E,-0.4079,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9613418297600448,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303R,NP_000240:p.Val303Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.28938,5.62857,3.774819522378028,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.4572,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9545775445092248,Pathogenic,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303S,NP_000240:p.Val303Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.55358,3.86599,3.9167408053668,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.377,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.9716699932572964,Pathogenic,0.9886,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303T,NP_000240:p.Val303Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.09978,2.31156,2.243592427859024,Uncertain,Uncertain,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.76,E,-0.2924,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.7021525135315125,Pathogenic,0.9058,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303W,NP_000240:p.Val303Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",11.2142,7.91769,3.4751605922081765,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.3911,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.953878781588952,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V303Y,NP_000240:p.Val303Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.43955,5.62551,3.229305318441508,Destabilizing,Destabilizing,False,0.019,,,,,,,,,,1.2,,False,1.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.76,E,-0.394,0.8426,-22.2273,loss_of_function,-5.68213561983139,0.27184364858716664,0.6838580718977064,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304A,NP_000240:p.Asp304Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.52565,1.03503,0.9167775749114468,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455461,Uncertain significance,2,83.12,E,-0.3486,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9893286443813716,Pathogenic,0.992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304C,NP_000240:p.Asp304Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.48073,1.94218,1.3959342139493152,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.12,E,-0.3901,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9916560493950988,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304E,NP_000240:p.Asp304Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.63804,1.28333,0.6693225142882914,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.2935,0.0001,-22.2273,loss_of_function,-3.33582908825471,0.561497465633125,0.8427108181455312,Pathogenic,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304F,NP_000240:p.Asp304Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.97956,0.65748,0.2718212682948584,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.4488,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9900005756204348,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304G,NP_000240:p.Asp304Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.82004,2.42245,1.6207049725601808,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90438,Conflicting classifications of pathogenicity,1,83.12,E,-0.3598,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.992804450915705,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304H,NP_000240:p.Asp304His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.6229,0.98741,0.2976732758108086,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.3579,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9913749176566898,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304I,NP_000240:p.Asp304Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7563,0.68878,0.5012986389897863,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.441,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9912203131006556,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304K,NP_000240:p.Asp304Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.9907,1.22313,0.7736954561439779,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.4194,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9921875118858392,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304L,NP_000240:p.Asp304Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.5189,0.6381,0.1955485245832033,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.4346,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.994250883370851,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304M,NP_000240:p.Asp304Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54676,1.03537,0.6156782376793785,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.3734,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9933703832361246,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304N,NP_000240:p.Asp304Asn,"hg19,3:g.37061826G>A, hg38,3:g.37020335G>A",,,0.882,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.80439,0.02959,0.5118493954788983,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1765840,Uncertain significance,2,83.12,E,-0.3153,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.9638762503602356,Pathogenic,0.9871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304P,NP_000240:p.Asp304Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.73124,3.15034,2.6481978510427564,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.12,E,-0.4856,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9904914797150468,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304Q,NP_000240:p.Asp304Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.05283,1.15272,0.8565542512267565,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.3756,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.9925376937327244,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304R,NP_000240:p.Asp304Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.1877,1.48673,0.6175663926493408,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.4504,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9924090504075228,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304S,NP_000240:p.Asp304Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.8444,1.86497,0.8634473928237835,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,83.12,E,-0.355,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9919739430461364,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304T,NP_000240:p.Asp304Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.28051,1.43776,0.9033455317218408,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.12,E,-0.3851,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.992112090892276,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304V,NP_000240:p.Asp304Val,"hg19,3:g.37061827A>T",,,0.949,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.2491,0.68503,0.5997474837212565,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,90439,Likely pathogenic,3,83.12,E,-0.3957,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9911546196461416,Pathogenic,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304W,NP_000240:p.Asp304Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.03775,0.67789,0.0136741258077016,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,83.12,E,-0.4292,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9937455606420657,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D304Y,NP_000240:p.Asp304Tyr,"hg38,3:g.37020335G>T",,,0.950,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.9133,0.52721,0.2830214356563243,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,68.2,,False,68.2,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,455460,Conflicting classifications of pathogenicity,1,83.12,E,-0.3936,0.0001,-22.2273,loss_of_function,-7.88417298551369,0.0,0.9935115137162572,Pathogenic,0.9945,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305A,NP_000240:p.Val305Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58566,0.87075,1.7632248441368996,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.2666,0.1794,-8.9394,loss_of_function,-5.85611093180127,0.25036622758285565,0.8839144337469949,Pathogenic,0.9795,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305C,NP_000240:p.Val305Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28477,0.53844,1.8978314374754053,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.3623,0.1794,-22.2273,loss_of_function,-6.31285034855685,0.19398130358501062,0.9798506282267424,Pathogenic,0.9875,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305D,NP_000240:p.Val305Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21354,1.18605,2.329945381730132,Neutral,Uncertain,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.501,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9927024699286152,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305E,NP_000240:p.Val305Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06283,1.98707,1.7227544229244698,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,78.28,-,-0.4583,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9929896867965188,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305F,NP_000240:p.Val305Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-1.7469,-0.81361,-0.5361697066000493,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1765942,Uncertain significance,1,78.28,-,-0.4116,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.964265523199918,Pathogenic,0.9905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305G,NP_000240:p.Val305Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90287,2.60442,2.96737284842351,Uncertain,Uncertain,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.4602,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9921470489330224,Pathogenic,0.9764,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305H,NP_000240:p.Val305His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.20251,0.49762,0.6988095488326354,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.504,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.988704066574336,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305I,NP_000240:p.Val305Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.10966,0.26088,0.333607840142327,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.197,0.1794,-7.9395,loss_of_function,-2.17239646140653,0.7051243518507275,0.6977963251865353,Pathogenic,0.3729,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305K,NP_000240:p.Val305Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37865,2.84558,1.521571268753434,Uncertain,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.4973,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9931887319919817,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305L,NP_000240:p.Val305Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.3599,-0.15578,0.0485283502082883,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.335,0.1794,-22.2273,loss_of_function,-3.72166335843883,0.5138658507516406,0.9924208539436458,Pathogenic,0.9868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305M,NP_000240:p.Val305Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.50702,0.36769,0.5835723718946684,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.3441,0.1794,-22.2273,loss_of_function,-4.58869151145818,0.4068303843159736,0.9906266903683988,Pathogenic,0.9765,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305N,NP_000240:p.Val305Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.95195,0.40102,1.6380391248759056,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.4889,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9926291186480148,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305P,NP_000240:p.Val305Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.3982,2.07211,4.46747817252403,Uncertain,Uncertain,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.4556,0.1794,-5.9396,loss_of_function,-5.40706036356716,0.3058019557731796,0.9236415728478562,Pathogenic,0.9849,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305Q,NP_000240:p.Val305Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.46002,0.95034,1.4042748838774397,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,78.28,-,-0.4689,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9921192700451128,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305R,NP_000240:p.Val305Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.04847,3.47007,0.8826814230745295,Uncertain,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.5183,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9922502849201764,Pathogenic,0.9929,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305S,NP_000240:p.Val305Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4982,1.2619,2.138659049903936,Neutral,Uncertain,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.4381,0.1794,-22.2273,loss_of_function,-6.89821873764666,0.12171700819306558,0.9919850778180072,Pathogenic,0.9738,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305T,NP_000240:p.Val305Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.26837,0.96156,1.58184257628104,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,78.28,-,-0.3534,0.1794,-22.2273,loss_of_function,-6.89821873764666,0.12171700819306558,0.9910128266501002,Pathogenic,0.9469,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305W,NP_000240:p.Val305Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.63334,0.06259,-0.6236450084091488,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.4521,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9905996139677796,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V305Y,NP_000240:p.Val305Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74154,-0.68639,-0.4088328864721469,Neutral,Neutral,False,0.018,,,,,,,Uncertain,Uncertain,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,78.28,-,-0.455,0.1794,-22.2273,loss_of_function,-7.64287963348715,0.029787898342223635,0.9910241853565032,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306A,NP_000240:p.Asn306Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90023,1.41259,0.2257547182971675,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,76.82,-,-0.3288,0.0001,-22.2273,loss_of_function,-7.61055128851152,0.03377886388527963,0.9942356195838188,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306C,NP_000240:p.Asn306Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7707,1.02041,0.5293373520649449,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,76.82,-,-0.3787,0.0001,-22.2273,loss_of_function,-7.61055128851152,0.03377886388527963,0.9934660969131648,Pathogenic,0.9799,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306D,NP_000240:p.Asn306Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.18245,0.06224,0.0505739019811346,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2763602,Likely pathogenic,1,76.82,-,-0.332,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.9946855169556827,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306E,NP_000240:p.Asn306Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.91884,0.94524,0.0521076911562945,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3592,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.9927150449834758,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306F,NP_000240:p.Asn306Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.55941,-0.68129,-0.7537518113629793,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.386,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.993169347379898,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306G,NP_000240:p.Asn306Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.11066,2.08197,0.7331317794438846,Uncertain,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,76.82,-,-0.3596,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.993173227108507,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306H,NP_000240:p.Asn306His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.12313,-0.74354,-0.5724782290887853,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3338,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.994011397992998,Pathogenic,0.9903,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306I,NP_000240:p.Asn306Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.52907,0.68367,-0.3070686359517999,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,231940,Uncertain significance,2,76.82,-,-0.3791,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9937529912977728,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306K,NP_000240:p.Asn306Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.22474,1.65952,0.0051936530066148,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,90441,Pathogenic,3,76.82,-,-0.332,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9930640404235056,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306L,NP_000240:p.Asn306Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32369,-0.18197,-0.7312585527457766,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3855,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9929646133553685,Pathogenic,0.9742,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306M,NP_000240:p.Asn306Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.6693,-0.58367,-0.3010500863345028,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3397,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9951920092949208,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306P,NP_000240:p.Asn306Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.09795,5.34898,4.17455540185486,Uncertain,Uncertain,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,76.82,-,-0.4944,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9933372481433717,Pathogenic,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306Q,NP_000240:p.Asn306Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.01779,0.13639,0.0024203985763349,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3228,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.992685130646948,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306R,NP_000240:p.Asn306Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.09453,0.68027,-0.3331039180401812,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3642,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9927588686600856,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306S,NP_000240:p.Asn306Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.14768,0.65578,0.2893735185277502,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,455462,Conflicting classifications of pathogenicity,1,76.82,-,-0.2987,0.0001,-22.2273,loss_of_function,-6.44610391553407,0.17753102149676014,0.9921330330279624,Pathogenic,0.8782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306T,NP_000240:p.Asn306Thr,"hg19,3:g.37061833A>C",,,0.934,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",0.28568,-0.21088,0.1166232527356436,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,76.82,-,-0.3483,0.0001,-22.2273,loss_of_function,-7.61055128851152,0.03377886388527963,0.9945445872493688,Pathogenic,0.9833,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306V,NP_000240:p.Asn306Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.98578,0.83129,-0.2076037290468024,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3725,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9939402689774228,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306W,NP_000240:p.Asn306Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.68238,-1.1398,-1.0401703418050494,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3911,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.992640253500801,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N306Y,NP_000240:p.Asn306Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.16487,-1.07347,-0.6831715341336048,Neutral,Neutral,False,0.022,,,,,,,Uncertain,Uncertain,Uncertain,76.6,,False,76.6,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,76.82,-,-0.3696,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9924419343015236,Pathogenic,0.9891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307A,NP_000240:p.Val307Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.45328,0.76463,1.2199199233957063,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,216339,Uncertain significance,2,79.57,S,-0.3254,0.2773,-22.2273,loss_of_function,-6.33792520122303,0.19088578870284248,0.8127797989468517,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307C,NP_000240:p.Val307Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.99178,1.20714,1.383540748021757,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.2855,0.2773,-8.9394,loss_of_function,-5.46291746328051,0.2989063426368106,0.6536963025397282,Uncertain,0.9833,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307D,NP_000240:p.Val307Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60749,2.96497,1.6817597665155997,Uncertain,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.492,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.965426116312206,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307E,NP_000240:p.Val307Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.90289,2.31395,1.1457333966541612,Uncertain,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,79.57,S,-0.4493,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.9660207486818888,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307F,NP_000240:p.Val307Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.13974,0.59762,0.5106332218487016,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.4026,0.2773,-22.2273,loss_of_function,-6.28661898935101,0.19721959032121533,0.9201900657811524,Pathogenic,0.9696,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307G,NP_000240:p.Val307Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.20817,2.2619,2.403640281116307,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.4512,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.9571895574896764,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307H,NP_000240:p.Val307His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.20238,1.43741,0.7235636294864151,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.495,0.2773,-22.2273,loss_of_function,-6.82878430860836,0.1302887558034835,0.9594357651555314,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307I,NP_000240:p.Val307Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.36387,0.59592,0.2900781114320255,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.1732,0.2773,-5.0327,loss_of_function,-2.0992527775698,0.7141540105636812,0.0358850071048034,Benign,0.1471,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307K,NP_000240:p.Val307Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.38494,2.20986,0.9684256784602236,Uncertain,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.4883,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.966108168418071,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307L,NP_000240:p.Val307Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.29412,0.82381,0.4988218588668758,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.2531,0.2773,-7.9395,loss_of_function,-3.39519502363219,0.5541686833307394,0.7534104723784512,Pathogenic,0.955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307M,NP_000240:p.Val307Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.17305,2.01224,0.8194756415235988,Uncertain,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,185469,Uncertain significance,2,79.57,S,-0.2673,0.2773,-8.9394,loss_of_function,-1.65722575331797,0.7687226754371373,0.3521317974020579,Uncertain,0.889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307N,NP_000240:p.Val307Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2734,1.44422,1.1002911828787412,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.4799,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.9627855872372156,Pathogenic,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307P,NP_000240:p.Val307Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.6557,3.34592,4.262976737963092,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.5297,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.975657087786848,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307Q,NP_000240:p.Val307Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57385,0.87755,1.0134148257511644,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,79.57,S,-0.4599,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.9652304698700136,Pathogenic,0.9937,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307R,NP_000240:p.Val307Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42668,1.49456,0.6264095631579788,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.5093,0.2773,-22.2273,loss_of_function,-7.07421386230103,0.09999023935380343,0.9676759175939004,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307S,NP_000240:p.Val307Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.41604,2.19082,1.6088249747051817,Uncertain,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.4291,0.2773,-22.2273,loss_of_function,-6.33792520122303,0.19088578870284248,0.9482554785157884,Pathogenic,0.9852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307T,NP_000240:p.Val307Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.666,1.21122,1.152772709588807,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,79.57,S,-0.3444,0.2773,-22.2273,loss_of_function,-5.45359556750983,0.3000571397111671,0.8973722534643997,Pathogenic,0.9642,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307W,NP_000240:p.Val307Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.69831,1.17483,0.421682899055224,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.4431,0.2773,-22.2273,loss_of_function,-6.82878430860836,0.1302887558034835,0.960295079676557,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V307Y,NP_000240:p.Val307Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05088,0.47177,0.6568828372765206,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,False,25.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.57,S,-0.446,0.2773,-22.2273,loss_of_function,-6.82878430860836,0.1302887558034835,0.9716078411668756,Pathogenic,0.9968,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308A,NP_000240:p.His308Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.28688,1.52993,0.483911809695603,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.292,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.983038215693924,Pathogenic,0.9974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308C,NP_000240:p.His308Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41887,1.27959,1.1762977506535968,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3466,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.987857869703048,Pathogenic,0.9751,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308D,NP_000240:p.His308Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.04097,0.38844,0.6624504117683083,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3392,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.9323176076541788,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308E,NP_000240:p.His308Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.00088,2.03741,0.7212250787663629,Uncertain,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3508,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.9862116274762558,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308F,NP_000240:p.His308Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.74102,1.56361,0.0839713734989838,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.08,-,-0.3137,0.0538,-22.2273,loss_of_function,-4.69613030089757,0.3935669615529622,0.984562657328134,Pathogenic,0.9927,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308G,NP_000240:p.His308Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.31728,3.37823,1.6136234330787658,Uncertain,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3746,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9833122163516068,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308I,NP_000240:p.His308Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.70579,1.37517,0.4222331587924155,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.08,-,-0.3783,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9893831034758362,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308K,NP_000240:p.His308Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.32435,1.91088,0.9640069204398136,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.08,-,-0.335,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9849714095672696,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308L,NP_000240:p.His308Leu,"hg19,3:g.37061839A>T",,,0.953,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.55253,1.89252,0.1020842994274717,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1801693,Likely pathogenic,1,77.08,-,-0.3418,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.985167928444866,Pathogenic,0.9669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308M,NP_000240:p.His308Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.53529,1.97041,0.5290825554222186,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.08,-,-0.292,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9879148840376196,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308N,NP_000240:p.His308Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20672,0.7051,0.4009483827373356,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.2988,0.0538,-22.2273,loss_of_function,-6.52356561144672,0.16796830000492027,0.9424349281536386,Pathogenic,0.9928,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308P,NP_000240:p.His308Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.59411,7.98265,5.566364660535667,Uncertain,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,561172,Likely pathogenic,3,77.08,-,-0.4553,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9833986349347084,Pathogenic,0.9661,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308Q,NP_000240:p.His308Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21191,2.22619,0.7027533963831917,Uncertain,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.2603,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.9885629837483728,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308R,NP_000240:p.His308Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00104,1.72585,0.5251324411223676,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2757087,Uncertain significance,2,77.08,-,-0.3284,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9887301342719595,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308S,NP_000240:p.His308Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.00763,0.8466,1.0124227075697834,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.2221,0.0538,-7.3546,loss_of_function,-5.19302557731443,0.33222475773207744,0.414769464668529,Uncertain,0.9887,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308T,NP_000240:p.His308Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.97433,0.01054,0.6492200358465607,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3428,0.0538,-22.2273,loss_of_function,-7.12263970965706,0.09401202152864432,0.9802964132339124,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308V,NP_000240:p.His308Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.42086,0.4085,0.310834960774628,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,77.08,-,-0.3347,0.0538,-22.2273,loss_of_function,-7.82436438818554,0.007383429349541137,0.9844342847596084,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308W,NP_000240:p.His308Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07691,5.92449,-0.1596095711872852,Uncertain,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,77.08,-,-0.3299,0.0538,-22.2273,loss_of_function,-4.69613030089757,0.3935669615529622,0.9836548679175584,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H308Y,NP_000240:p.His308Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4391,1.47245,0.2064123594229155,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,33.5,,True,33.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1766260,Uncertain significance,2,77.08,-,-0.2639,0.0538,-22.2273,loss_of_function,-4.69613030089757,0.3935669615529622,0.9856526698805784,Pathogenic,0.9858,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309A,NP_000240:p.Pro309Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.13177,0.05918,-0.3526361131310418,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,3075503,Uncertain significance,1,74.49,T,-0.3276,0.0001,-22.2273,loss_of_function,-6.39873883824276,0.1833782862285705,0.9719484680560492,Pathogenic,0.9873,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309C,NP_000240:p.Pro309Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.84224,0.94728,0.3240042241633056,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,74.49,T,-0.3603,0.0001,-22.2273,loss_of_function,-7.03185083458837,0.10521999621355607,0.9932309082466084,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309D,NP_000240:p.Pro309Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.12354,0.66803,-0.2119945856484301,Uncertain,Uncertain,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,74.49,T,-0.3862,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9931841328770128,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309E,NP_000240:p.Pro309Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.55671,1.24048,-0.5118224019432277,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.37,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.992145620552734,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309F,NP_000240:p.Pro309Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.81794,0.11156,-0.7192344320381949,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3887,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9920991529474412,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309G,NP_000240:p.Pro309Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.16769,1.5932,0.307402473890867,Uncertain,Uncertain,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,74.49,T,-0.342,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9923325139740856,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309H,NP_000240:p.Pro309His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.96523,0.68776,-0.6965553632436661,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1766387,Uncertain significance,1,74.49,T,-0.3663,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.992489043663526,Pathogenic,0.9981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309I,NP_000240:p.Pro309Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63195,2.2551,-0.6804581379696084,Uncertain,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3718,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9928067712515708,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309K,NP_000240:p.Pro309Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48433,0.57823,-0.478498687406681,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3617,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9912705838300244,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309L,NP_000240:p.Pro309Leu,"hg19,3:g.37061842C>T, hg38,3:g.37020351C>T",,,0.922,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",1.10666,0.15136,-1.0156222558235766,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3763,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.993914075859357,Pathogenic,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309M,NP_000240:p.Pro309Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.36495,-0.02857,-0.6499651935383766,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3273,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9934545678540848,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309N,NP_000240:p.Pro309Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.88985,0.42551,-0.4352552893704647,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,74.49,T,-0.3544,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9936274600591964,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309Q,NP_000240:p.Pro309Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.26925,0.58741,-0.3465862531129321,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.356,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.994017835388466,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309R,NP_000240:p.Pro309Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63713,1.11156,-0.755024329583952,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3974,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9932479302908344,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309S,NP_000240:p.Pro309Ser,"hg19,3:g.37061841C>T, hg38,3:g.37020350C>T",,1.59095067257e-05,0.900,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.9772,0.72891,-0.2169662473606853,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,90444,Conflicting classifications of pathogenicity,1,74.49,T,-0.3273,0.0001,-22.2273,loss_of_function,-7.03185083458837,0.10521999621355607,0.9932861111179524,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309T,NP_000240:p.Pro309Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.1763,1.52755,-0.3791354074406033,Uncertain,Uncertain,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,74.49,T,-0.3395,0.0001,-22.2273,loss_of_function,-7.03185083458837,0.10521999621355607,0.9929416996528656,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309V,NP_000240:p.Pro309Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.80823,0.88844,-0.5387405885016089,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3272,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9929235128146948,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309W,NP_000240:p.Pro309Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79648,-0.07551,-1.21713377612842,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.4013,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9909944148987548,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +P309Y,NP_000240:p.Pro309Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65275,0.08469,-0.6443252773507507,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,74.49,T,-0.3897,0.0001,-22.2273,loss_of_function,-7.84873864982187,0.004374403109523104,0.9923202710923308,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310A,NP_000240:p.Thr310Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.19734,1.50476,0.3099615351969209,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,DOWN,neutral,neutral,neutral,237351,Conflicting classifications of pathogenicity,1,75.46,T,-0.3152,0.0821,-22.2273,loss_of_function,-3.45131125193141,0.5472410805191117,0.8963540834528847,Pathogenic,0.8278,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310C,NP_000240:p.Thr310Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27137,1.82789,0.7036294033230375,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,75.46,T,-0.351,0.0821,-22.2273,loss_of_function,-4.33727698717721,0.43786775118970456,0.99341565669823,Pathogenic,0.987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310D,NP_000240:p.Thr310Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.50486,1.05544,0.5342718830367573,Uncertain,Uncertain,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,-,uncertain,uncertain,neutral,,,,75.46,T,-0.4308,0.0821,-22.2273,loss_of_function,-6.86235157153059,0.126144844638272,0.9962084517484148,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310E,NP_000240:p.Thr310Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.07963,2.61361,0.3230946435677018,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.4061,0.0821,-22.2273,loss_of_function,-6.86235157153059,0.126144844638272,0.9955071724883542,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310F,NP_000240:p.Thr310Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.96051,4.76463,-0.6885844457810886,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.4224,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9957874396063228,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310G,NP_000240:p.Thr310Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45943,2.69218,1.6253286976423116,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,DOWN,neutral,neutral,neutral,,,,75.46,T,-0.3887,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9856269421115872,Pathogenic,0.9569,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310H,NP_000240:p.Thr310His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.63542,5.20272,-0.267189099024876,Destabilizing,Uncertain,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.4027,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9856298012446232,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310I,NP_000240:p.Thr310Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22808,3.25408,-0.7469076809390124,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.3411,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9959390217365895,Pathogenic,0.9917,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310K,NP_000240:p.Thr310Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.59707,4.15102,0.3967327400067438,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,1035503,Uncertain significance,2,75.46,T,-0.3983,0.0821,-22.2273,loss_of_function,-7.0784152063437,0.0994715793567804,0.9796700190988652,Pathogenic,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310L,NP_000240:p.Thr310Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.71437,1.71224,-0.5801104762924669,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.393,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9958711905883002,Pathogenic,0.8746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310M,NP_000240:p.Thr310Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.02136,1.9585,-0.0678288165366008,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.3599,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.989788872485024,Pathogenic,0.9153,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310N,NP_000240:p.Thr310Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85765,0.85544,0.2854120040595564,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,-,uncertain,uncertain,neutral,,,,75.46,T,-0.2911,0.0821,-6.6176,loss_of_function,-5.80563319555793,0.2565977530813153,0.8913207664387557,Pathogenic,0.9709,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310P,NP_000240:p.Thr310Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.80591,6.99014,2.4431960433305053,Uncertain,Uncertain,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,-,uncertain,uncertain,neutral,,,,75.46,T,-0.4795,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9957144157876782,Pathogenic,0.9818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310Q,NP_000240:p.Thr310Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.749,1.97109,0.4070886874746715,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.3803,0.0821,-22.2273,loss_of_function,-6.86235157153059,0.126144844638272,0.945325693538328,Pathogenic,0.9885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310R,NP_000240:p.Thr310Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.43197,3.33027,-0.0938907033263419,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,491734,Uncertain significance,2,75.46,T,-0.4011,0.0821,-22.2273,loss_of_function,-7.36953967721568,0.0635319810610332,0.9451676598467236,Pathogenic,0.982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310S,NP_000240:p.Thr310Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.43305,0.55272,0.5453619222598068,Neutral,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,neutral,,,DOWN,neutral,neutral,neutral,,,,75.46,T,-0.2789,0.0821,-22.2273,loss_of_function,-3.47585282298173,0.5442113997696602,0.8842789458641043,Pathogenic,0.864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310V,NP_000240:p.Thr310Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10309,2.35204,-0.7556068397105842,Uncertain,Neutral,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.3286,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.99650607091435,Pathogenic,0.9452,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310W,NP_000240:p.Thr310Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.28235,4.32313,-1.0607893802477035,Uncertain,Uncertain,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.4153,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.995196798690598,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +T310Y,NP_000240:p.Thr310Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.39821,4.93707,-0.6529124340326892,Uncertain,Uncertain,False,0.005,,,,,,,,,,9.5,,True,9.5,,uncertain,,,UP,neutral,neutral,neutral,,,,75.46,T,-0.4239,0.0821,-22.2273,loss_of_function,-7.79839397022016,0.010589502636519633,0.9956026145226078,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311A,NP_000240:p.Lys311Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63061,1.05204,0.954463442010501,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3224,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.995045111490218,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311C,NP_000240:p.Lys311Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.17664,1.23469,1.2991296700930095,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3926,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9936810818074188,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311D,NP_000240:p.Lys311Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64206,1.06701,1.7594901194437569,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.4314,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9948903746512026,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311E,NP_000240:p.Lys311Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.58622,1.72347,1.3022149232880345,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,230595,Likely pathogenic,3,75.76,S,-0.3473,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9946838959951982,Pathogenic,0.9988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311F,NP_000240:p.Lys311Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.86544,-1.12347,-0.6372027344036507,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,75.76,S,-0.3935,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9946547807459664,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311G,NP_000240:p.Lys311Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.90969,0.91156,1.9922833060125893,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3816,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.994133301516636,Pathogenic,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311H,NP_000240:p.Lys311His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23257,-0.00034,0.0493543858068629,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3325,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9947285484427664,Pathogenic,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311I,NP_000240:p.Lys311Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.67965,3.67959,0.3232745346987731,Uncertain,Uncertain,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,75.76,S,-0.3608,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.993965067983232,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311L,NP_000240:p.Lys311Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24285,-0.02993,-0.4764897442311461,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,75.76,S,-0.3595,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9951870542873236,Pathogenic,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311M,NP_000240:p.Lys311Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.52742,0.21259,-0.1071242656099358,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2566509,Uncertain significance,1,75.76,S,-0.3325,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9953819175161336,Pathogenic,0.9983,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311N,NP_000240:p.Lys311Asn,"hg19,3:g.37061849G>C",,,0.830,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.1604,0.32993,0.8068436481650187,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,233984,Uncertain significance,2,75.76,S,-0.3407,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9948431896632248,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311P,NP_000240:p.Lys311Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.37295,4.01599,4.015471778029062,Destabilizing,Destabilizing,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.4967,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9950081728488293,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311Q,NP_000240:p.Lys311Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88062,0.84354,0.6802642034666845,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3217,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9948463177891742,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311R,NP_000240:p.Lys311Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0951,0.3949,0.2682496606848117,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,75.76,S,-0.256,0.0001,-22.2273,loss_of_function,-4.73114383495594,0.38924450681323114,0.9948605349491187,Pathogenic,0.8966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311S,NP_000240:p.Lys311Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.35764,1.55102,1.3960031341087693,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3326,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9950621387280664,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311T,NP_000240:p.Lys311Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45746,1.9085,1.3023994715875982,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3444,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9951090472346752,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311V,NP_000240:p.Lys311Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.38565,3.51054,0.6642550297688151,Uncertain,Uncertain,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,75.76,S,-0.3447,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9939866145036342,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311W,NP_000240:p.Lys311Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.05001,-0.70952,-0.8558614959865646,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,75.76,S,-0.4025,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.994345920592088,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K311Y,NP_000240:p.Lys311Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07482,-0.74626,-0.4136042138177448,Neutral,Neutral,False,0.004,,,,,,,,,,8.6,,True,8.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,75.76,S,-0.3784,0.0001,-22.2273,loss_of_function,-7.88403944007325,1.6486314150252142e-05,0.9945280118887972,Pathogenic,0.9996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312A,NP_000240:p.His312Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.31272,0.30374,0.9930304890114116,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.0721,1.6196,-7.3546,loss_of_function,-3.01584299880641,0.6010000587354962,0.6835869452446504,Pathogenic,0.7235,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312C,NP_000240:p.His312Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0059,0.74966,1.6775562794918488,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.2025,1.6196,-22.2273,loss_of_function,-4.4366097062199,0.4256050306793821,0.9679932736786024,Pathogenic,0.3845,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312D,NP_000240:p.His312Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.63333,0.53401,1.406190908659099,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.1952,1.6196,-22.2273,loss_of_function,-4.56045507236823,0.41031620010863296,0.9458018526836643,Pathogenic,0.8476,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312E,NP_000240:p.His312Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.2702,0.83401,0.9813590178054272,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.1389,1.6196,-8.9394,loss_of_function,-3.91320765769213,0.49021952122673024,0.6987521126364779,Pathogenic,0.8397,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312F,NP_000240:p.His312Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.06338,0.21565,0.3348014054102832,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.1696,1.6196,-22.2273,loss_of_function,-3.78290059066276,0.506306055038558,0.9186769592681217,Pathogenic,0.6618,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312G,NP_000240:p.His312Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39506,1.29932,1.8435960076889064,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.2305,1.6196,-22.2273,loss_of_function,-6.02566751322935,0.22943430314973212,0.9715773247053352,Pathogenic,0.7069,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312I,NP_000240:p.His312Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16894,0.56701,0.3601110259152101,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.2342,1.6196,-22.2273,loss_of_function,-4.73398369073952,0.3888939238623236,0.8767119791448057,Pathogenic,0.855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312K,NP_000240:p.His312Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57389,0.46395,0.8666277367961708,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.0963,1.6196,-3.6917,loss_of_function,-1.8346265696307,0.7468223725992462,0.1414025948519617,Benign,0.4934,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312L,NP_000240:p.His312Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.77906,-0.12551,0.0677415221185323,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.1978,1.6196,-22.2273,loss_of_function,-4.49772741947699,0.41805998969867936,0.7094805408181867,Pathogenic,0.4477,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312M,NP_000240:p.His312Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47129,0.40102,0.6349486229137532,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.1479,1.6196,-22.2273,loss_of_function,-3.45258545359383,0.5470837790880159,0.7570227711909479,Pathogenic,0.7676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312N,NP_000240:p.His312Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.12313,0.33707,1.1010944618735377,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1766650,Uncertain significance,1,81.38,-,-0.0788,1.6196,-7.3546,loss_of_function,-3.00608200916872,0.6022050623736198,0.3873549528166741,Uncertain,0.3913,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312P,NP_000240:p.His312Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.72506,2.64932,5.052536743256739,Uncertain,Uncertain,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,483576,Uncertain significance,2,81.38,-,-0.3112,1.6196,-22.2273,loss_of_function,-6.02566751322935,0.22943430314973212,0.9661953445353072,Pathogenic,0.947,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312Q,NP_000240:p.His312Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31626,0.2381,1.0756031799006929,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1474185,Uncertain significance,1,81.38,-,-0.0322,1.6196,-5.7696,loss_of_function,-1.99698555226768,0.7267789987179581,0.0712879775274615,Benign,0.4135,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312R,NP_000240:p.His312Arg,"hg38,3:g.37020360A>G",3.18451054073e-05,,0.681,"COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64665,0.04524,0.4689835771960526,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.0802,1.6196,-1.8206,loss_of_function,-1.77920453370852,0.7536642766886195,0.0286686943868802,Benign,0.2604,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312S,NP_000240:p.His312Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14714,0.36361,1.3417638322710874,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.0678,1.6196,-5.3546,loss_of_function,-2.80286406915998,0.627292514172253,0.1260612198891377,Benign,0.6188,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312T,NP_000240:p.His312Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.5474,0.14048,1.0353401677470349,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.1988,1.6196,-22.2273,loss_of_function,-3.95403413553407,0.4851794529388439,0.8032234830816332,Pathogenic,0.7403,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312V,NP_000240:p.His312Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41884,0.4568,0.6830696382048631,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,81.38,-,-0.1906,1.6196,-22.2273,loss_of_function,-4.73398369073952,0.3888939238623236,0.915832838941709,Pathogenic,0.752,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312W,NP_000240:p.His312Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.98411,-0.33571,-0.1083149472475136,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,,,,81.38,-,-0.1859,1.6196,-22.2273,loss_of_function,-3.78290059066276,0.506306055038558,0.8928877673157627,Pathogenic,0.7061,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H312Y,NP_000240:p.His312Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.62118,-0.18197,0.4609656494399272,Neutral,Neutral,False,0.01,,,,,,,Uncertain,Uncertain,Uncertain,44.7,,True,44.7,,neutral,neutral,neutral,UP,mixed_effects,mixed_effects,neutral,1484376,Uncertain significance,1,81.38,-,-0.052,1.6196,-8.9394,loss_of_function,-1.81263582549196,0.7495371512923725,0.3686047692098164,Uncertain,0.2717,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313A,NP_000240:p.Glu313Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.25271,0.34796,0.4736584921725556,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.3033,0.1882,-22.2273,loss_of_function,-5.70469830099367,0.2690582637137531,0.9255581721928116,Pathogenic,0.7145,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313C,NP_000240:p.Glu313Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05413,0.54116,1.1075718350315482,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.3726,0.1882,-22.2273,loss_of_function,-6.29269769674501,0.19646916799758382,0.978122094520528,Pathogenic,0.9827,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313D,NP_000240:p.Glu313Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21953,1.13129,0.7412695970578903,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.269,0.1882,-22.2273,loss_of_function,-3.65872343107023,0.5216358458318058,0.8594722076517001,Pathogenic,0.8663,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313F,NP_000240:p.Glu313Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28019,-0.07313,-0.0758728637730787,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3503,0.1882,-22.2273,loss_of_function,-7.13731082427306,0.09220085819953422,0.9579359357485976,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313G,NP_000240:p.Glu313Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.34114,1.98503,1.3598772849778786,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.329,0.1882,-22.2273,loss_of_function,-7.67020237668754,0.026414879193339756,0.9857113473789856,Pathogenic,0.9089,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313H,NP_000240:p.Glu313His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.61048,0.4415,0.2927255720504051,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.2686,0.1882,-7.9395,loss_of_function,-6.12958774686743,0.21660524951309992,0.8310385053710523,Pathogenic,0.9674,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313I,NP_000240:p.Glu313Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.48516,-0.43844,-0.1889174478868777,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3556,0.1882,-22.2273,loss_of_function,-5.51333613761468,0.2926821083883231,0.870500095601501,Pathogenic,0.8531,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313K,NP_000240:p.Glu313Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.65844,0.36837,0.3377809770813689,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.2575,0.1882,-8.9394,loss_of_function,-5.8517979700915,0.2508986668891421,0.8607425778791797,Pathogenic,0.8503,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313L,NP_000240:p.Glu313Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.38477,-0.29864,-0.3078366302524327,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3577,0.1882,-22.2273,loss_of_function,-5.32558684870664,0.31585994020526575,0.8706762734595517,Pathogenic,0.9434,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313M,NP_000240:p.Glu313Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.81612,0.14116,0.1191274251856899,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.2388,0.1882,-8.9394,loss_of_function,-6.35017769528345,0.18937320642718014,0.935305543473272,Pathogenic,0.884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313N,NP_000240:p.Glu313Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.00914,0.85068,0.6158251869605053,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.3295,0.1882,-22.2273,loss_of_function,-3.4825836142106,0.5433804770641467,0.9466330661093276,Pathogenic,0.9474,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313P,NP_000240:p.Glu313Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.90223,7.2585,4.307045768114531,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.4602,0.1882,-22.2273,loss_of_function,-7.67020237668754,0.026414879193339756,0.9790484927190836,Pathogenic,0.9994,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313Q,NP_000240:p.Glu313Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.31014,-0.23163,0.5050044922197883,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.1936,0.1882,-6.1322,loss_of_function,-2.83888127316373,0.6228461554042881,0.1317251046582798,Benign,0.5896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313R,NP_000240:p.Glu313Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.50147,0.26837,0.109599092191655,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3858,0.1882,-22.2273,loss_of_function,-6.71500426050903,0.14433501309855962,0.9644358765849356,Pathogenic,0.912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313S,NP_000240:p.Glu313Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.86138,0.71973,0.8746524682424334,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.3167,0.1882,-22.2273,loss_of_function,-5.08298232346286,0.34580970415288687,0.8817144317121899,Pathogenic,0.8062,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313T,NP_000240:p.Glu313Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27047,0.22755,0.5420252306902007,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.59,-,-0.3326,0.1882,-22.2273,loss_of_function,-5.20630871642238,0.33058494132565724,0.7037603208053596,Pathogenic,0.7993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313V,NP_000240:p.Glu313Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2431,-0.40068,0.048526277684151,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.59,-,-0.3165,0.1882,-22.2273,loss_of_function,-5.63071236289393,0.27819189953239215,0.8440158978927328,Pathogenic,0.688,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313W,NP_000240:p.Glu313Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65948,0.85102,-0.5007152635110923,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3603,0.1882,-22.2273,loss_of_function,-7.13731082427306,0.09220085819953422,0.9828285341777768,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E313Y,NP_000240:p.Glu313Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22567,0.34048,0.0268211207359808,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,49.5,,True,49.5,,neutral,neutral,neutral,UP,neutral,mixed_effects,neutral,,,,84.59,-,-0.3511,0.1882,-22.2273,loss_of_function,-7.13731082427306,0.09220085819953422,0.941772511268422,Pathogenic,0.9888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314A,NP_000240:p.Val314Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.5634,1.96293,2.0538965553227184,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1766905,Uncertain significance,1,84.21,-,-0.349,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9366286586080672,Pathogenic,0.9857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314C,NP_000240:p.Val314Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.87439,2.03333,2.019459165069561,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.21,-,-0.3768,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9813781083397148,Pathogenic,0.9921,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314D,NP_000240:p.Val314Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.80652,2.12585,3.4664116015379247,Uncertain,Destabilizing,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1766902,Uncertain significance,1,84.21,-,-0.5156,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9927265544396578,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314E,NP_000240:p.Val314Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.35619,2.87925,2.86562862592053,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.21,-,-0.4729,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.994194349516261,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314F,NP_000240:p.Val314Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.45022,-0.8017,0.2592674358755736,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,216340,Uncertain significance,2,84.21,-,-0.4261,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.967059618340735,Pathogenic,0.9865,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314G,NP_000240:p.Val314Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.88872,3.49014,3.8823487920772015,Destabilizing,Destabilizing,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1020800,Uncertain significance,2,84.21,-,-0.4748,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9939738642224808,Pathogenic,0.9651,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314H,NP_000240:p.Val314His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.63072,1.18299,1.7941839925778906,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.5185,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9939168298547442,Pathogenic,0.9997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314I,NP_000240:p.Val314Ile,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.4143,0.52925,0.0344550136383203,Neutral,Neutral,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2676584,Uncertain significance,1,84.21,-,-0.2167,0.0212,-8.9394,loss_of_function,-3.66164190768642,0.5212755570628568,0.7828828267493495,Pathogenic,0.4828,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314K,NP_000240:p.Val314Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.85705,3.68197,3.3842245763746264,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.5118,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9933692122418388,Pathogenic,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314L,NP_000240:p.Val314Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.95215,0.75272,-0.140865744691675,Neutral,Neutral,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.3496,0.0212,-22.2273,loss_of_function,-3.82592957735915,0.5009940848963388,0.8899174952677882,Pathogenic,0.98,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314M,NP_000240:p.Val314Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05867,0.11905,0.6324047576181141,Neutral,Neutral,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.3587,0.0212,-22.2273,loss_of_function,-4.66111676683919,0.3978894162926945,0.9679988321999924,Pathogenic,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314N,NP_000240:p.Val314Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.59336,2.08776,2.0949216271226776,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.21,-,-0.5034,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9934198401416728,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314P,NP_000240:p.Val314Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.85422,2.46939,5.398132448411707,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.21,-,-0.5533,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.992703518463318,Pathogenic,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314Q,NP_000240:p.Val314Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.31169,1.18537,1.9016343612687767,Neutral,Neutral,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,84.21,-,-0.4835,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9930538978348028,Pathogenic,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314R,NP_000240:p.Val314Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.11053,4.80442,2.336525140936341,Destabilizing,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.5328,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9921584744148692,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314S,NP_000240:p.Val314Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.37062,2.5017,2.945502209332449,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.21,-,-0.4526,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.991988002504068,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314T,NP_000240:p.Val314Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.0108,1.3432,1.7320628974494152,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,84.21,-,-0.368,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9938593645297804,Pathogenic,0.9748,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314W,NP_000240:p.Val314Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.28193,3.51224,0.9928055900020908,Destabilizing,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.4667,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9938254412305234,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V314Y,NP_000240:p.Val314Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.64603,0.33197,0.6896963221458396,Uncertain,Uncertain,False,0.027,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,84.21,-,-0.4696,0.0212,-22.2273,loss_of_function,-7.76721381231069,0.01443872337261196,0.9923798700998684,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315A,NP_000240:p.His315Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22342,1.2017,0.5851639359631894,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.0655,1.6679,-6.9395,loss_of_function,-3.03004393723664,0.5992469391125514,0.7096667560695615,Pathogenic,0.7678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315C,NP_000240:p.His315Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14326,1.39796,1.0431211597282075,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.1303,1.6679,-8.9394,loss_of_function,-3.43280398654856,0.5495258203811375,0.4921527656986114,Uncertain,0.2772,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315D,NP_000240:p.His315Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.07307,1.96429,0.4215982977741561,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1766964,Uncertain significance,2,85.08,E,-0.1907,1.6679,-22.2273,loss_of_function,-4.27847494478063,0.4451269203566686,0.9281630092802964,Pathogenic,0.9073,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315E,NP_000240:p.His315Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.37082,1.23878,0.2798072131730095,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.2023,1.6679,-22.2273,loss_of_function,-4.27847494478063,0.4451269203566686,0.8657535465218066,Pathogenic,0.9072,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315F,NP_000240:p.His315Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.80829,0.36769,-0.0854721963919369,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.0922,1.6679,-7.9395,loss_of_function,-2.4292364536607,0.6734172056934509,0.1836139459312364,Benign,0.6715,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315G,NP_000240:p.His315Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41301,2.07007,1.1144609536960672,Uncertain,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.1451,1.6679,-6.3546,loss_of_function,-3.45528540823142,0.5467504670692732,0.2476642393824712,Benign,0.6906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315I,NP_000240:p.His315Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22713,1.02823,-0.0846722612993733,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.2298,1.6679,-22.2273,loss_of_function,-3.97520789552717,0.48256553173090394,0.7472105615703907,Pathogenic,0.8154,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315K,NP_000240:p.His315Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.88756,0.54932,0.2521603876848333,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.0987,1.6679,-5.0327,loss_of_function,-2.27960817218447,0.6918889621687198,0.0703387407577774,Benign,0.612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315L,NP_000240:p.His315Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64342,0.4119,-0.2134997864420296,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3074521,Uncertain significance,1,85.08,E,-0.1933,1.6679,-22.2273,loss_of_function,-4.19682301771867,0.4552069299480675,0.6599676375859543,Uncertain,0.3874,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315M,NP_000240:p.His315Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.50787,1.28537,0.1549843146235247,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.0705,1.6679,-7.9395,loss_of_function,-4.03251771936722,0.47549057839207176,0.5041862628226836,Uncertain,0.8391,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315N,NP_000240:p.His315Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32365,0.98333,0.4396870981661632,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.0541,1.6679,-3.385,loss_of_function,-2.88251957545771,0.6174589646605608,0.0277148474022878,Benign,0.3634,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315P,NP_000240:p.His315Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.04128,3.90952,2.8399617349098696,Uncertain,Uncertain,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,185359,Uncertain significance,1,85.08,E,-0.3068,1.6679,-22.2273,loss_of_function,-6.23254924221999,0.20389455304771179,0.9197182350310492,Pathogenic,0.9409,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315Q,NP_000240:p.His315Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57764,1.28129,0.462776942358315,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,127623,Uncertain significance,2,85.08,E,-0.0235,1.6679,-4.9396,loss_of_function,-1.9271047054056,0.7354058570417099,0.0342999253958986,Benign,0.5066,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315R,NP_000240:p.His315Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.59914,0.74218,-0.0094470381169792,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.0849,1.6679,-3.6177,loss_of_function,-2.33860774656293,0.6846054074870029,0.0297278710207773,Benign,0.2155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315S,NP_000240:p.His315Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.31985,1.27279,0.5607002127243677,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.0664,1.6679,-5.9396,loss_of_function,-2.87253690511723,0.6186913349964558,0.3115934350845402,Benign,0.6635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315T,NP_000240:p.His315Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.52085,1.16122,0.3075498975786472,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.1214,1.6679,-7.9395,loss_of_function,-3.44203051173997,0.5483867968972934,0.4710005034048912,Uncertain,0.8248,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315V,NP_000240:p.His315Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.36831,0.8517,0.0681167641577107,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,85.08,E,-0.1862,1.6679,-22.2273,loss_of_function,-4.41779982913384,0.42792712824967755,0.7726500258452483,Pathogenic,0.7469,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315W,NP_000240:p.His315Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.81503,-0.28367,-0.4309492976226459,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.08,E,-0.1814,1.6679,-22.2273,loss_of_function,-3.85676475840234,0.4971874518889877,0.9292063011240655,Pathogenic,0.7877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H315Y,NP_000240:p.His315Tyr,"hg19,3:g.37061859C>T, hg38,3:g.37020368C>T",,1.19330792913e-05,0.841,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-1.33631,-0.15306,-0.0324449718634883,Neutral,Neutral,False,0.041,,,,,,,Uncertain,Uncertain,Uncertain,72.0,,False,72.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,483550,Uncertain significance,2,85.08,E,-0.0424,1.6679,-7.9395,loss_of_function,-3.09583876766543,0.5911245034805863,0.4846560650811521,Uncertain,0.3096,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316A,NP_000240:p.Phe316Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.67894,3.33333,4.458677271279503,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4308,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9883060052745112,Pathogenic,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316C,NP_000240:p.Phe316Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.90974,2.99184,4.52549856865618,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.3989,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.985617779179976,Pathogenic,0.9724,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316D,NP_000240:p.Phe316Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.5478,5.11871,5.646222940866219,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.5538,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9891562894076316,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316E,NP_000240:p.Phe316Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.46214,5.00476,5.428532435188621,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.5231,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.989830235194387,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316G,NP_000240:p.Phe316Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.01666,5.20782,5.865125149470476,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4661,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.987424516784032,Pathogenic,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316H,NP_000240:p.Phe316His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.27437,2.94252,3.325258637202876,Uncertain,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4583,0.2004,-22.2244,loss_of_function,-4.36134335880519,0.4348967342698452,0.9905713875360056,Pathogenic,0.997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316I,NP_000240:p.Phe316Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.35521,1.59354,3.506359574956748,Neutral,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.2967,0.2004,-6.9366,loss_of_function,-3.12348279845862,0.587711821066749,0.3359764318385937,Uncertain,0.8403,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316K,NP_000240:p.Phe316Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.37485,4.23265,5.825245089676132,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.53,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9885585726002042,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316L,NP_000240:p.Phe316Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.04373,1.75102,3.0062710079624546,Neutral,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,"3072371, 2830275","Uncertain significance, Uncertain significance","1, 1",86.53,E,-0.2528,0.2004,-5.7667,loss_of_function,-3.93030284299659,0.48810910401998214,0.4604458785162382,Uncertain,0.9845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316M,NP_000240:p.Phe316Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.19124,2.26905,3.283284120631247,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.3678,0.2004,-22.2244,loss_of_function,-5.00704423852276,0.35518433439238906,0.945051297002127,Pathogenic,0.9617,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316N,NP_000240:p.Phe316Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.90688,3.60068,4.583957780164228,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4834,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9874471164914228,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316P,NP_000240:p.Phe316Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.39859,3.64626,7.242376508333974,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.5541,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9882027419584004,Pathogenic,0.9999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316Q,NP_000240:p.Phe316Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.54911,3.98299,4.67084694386935,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4855,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9895795370147812,Pathogenic,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316R,NP_000240:p.Phe316Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.6472,3.11769,4.869435020095386,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.5314,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9892824720571222,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316S,NP_000240:p.Phe316Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.10238,3.90612,5.168417448499284,Destabilizing,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4098,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9896742279529748,Pathogenic,0.9978,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316T,NP_000240:p.Phe316Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.55677,2.95816,4.52806109428755,Uncertain,Destabilizing,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.4561,0.2004,-22.2244,loss_of_function,-7.21086852721977,0.08312008842588928,0.9879603677104208,Pathogenic,0.9977,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316V,NP_000240:p.Phe316Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.97211,2.12279,3.587539730449979,Uncertain,Uncertain,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,86.53,E,-0.3691,0.2004,-22.2244,loss_of_function,-4.13833693840167,0.46242709316639935,0.9204739595877258,Pathogenic,0.8798,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316W,NP_000240:p.Phe316Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22751,-0.35782,1.3350643985511246,Neutral,Neutral,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,86.53,E,-0.3543,0.2004,-22.2244,loss_of_function,-4.36134335880519,0.4348967342698452,0.949981111316328,Pathogenic,0.9673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F316Y,NP_000240:p.Phe316Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79497,0.10238,1.0479983733501423,Neutral,Neutral,False,0.031,,,,,,,,,,3.7,,False,3.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,86.53,E,-0.3226,0.2004,-22.2244,loss_of_function,-3.82175281581076,0.5015097101606001,0.8583956961326901,Pathogenic,0.8491,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317A,NP_000240:p.Leu317Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.21663,0.39014,0.9777752913056642,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.3137,0.3563,-7.9395,loss_of_function,-5.09090890531162,0.34483115993553026,0.8724719684590242,Pathogenic,0.9782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317C,NP_000240:p.Leu317Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74771,0.9932,1.4191643058904309,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.3759,0.3563,-22.2273,loss_of_function,-6.09544107518809,0.22082068925135515,0.9876262348521938,Pathogenic,0.9792,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317D,NP_000240:p.Leu317Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30615,0.8398,0.9592826818394063,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.5082,0.3563,-22.2273,loss_of_function,-6.05804589173286,0.225437160919131,0.904101028696535,Pathogenic,0.9993,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317E,NP_000240:p.Leu317Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.29521,0.87347,0.8879186960424762,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.3923,0.3563,-5.7696,loss_of_function,-4.43994871280606,0.4251928270777611,0.8613141597350739,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317F,NP_000240:p.Leu317Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.25979,1.14422,0.5352907850590823,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.99,T,-0.3201,0.3563,-22.2273,loss_of_function,-6.09624019611989,0.22072203699724333,0.8464931786452139,Pathogenic,0.889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317G,NP_000240:p.Leu317Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21509,1.62653,1.6962257925312074,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.4615,0.3563,-22.2273,loss_of_function,-7.45458876790825,0.053032588324468305,0.964602252910107,Pathogenic,0.9951,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317H,NP_000240:p.Leu317His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74586,0.96905,0.5423320684152516,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.429,0.3563,-22.2273,loss_of_function,-6.85323838630638,0.1272698761932349,0.907572222111515,Pathogenic,0.9802,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317I,NP_000240:p.Leu317Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.29184,0.22755,0.5982899833613969,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.99,T,-0.1849,0.3563,-7.3546,loss_of_function,-3.31128911858201,0.5645269486909559,0.7184176532063691,Pathogenic,0.6488,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317K,NP_000240:p.Leu317Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.24947,0.3898,0.7960128640547645,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.99,T,-0.4753,0.3563,-22.2273,loss_of_function,-6.93661374281942,0.1169771075645165,0.9156671681196802,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317M,NP_000240:p.Leu317Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.20282,0.34286,0.6998404649320091,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,83.99,T,-0.2031,0.3563,-6.3546,loss_of_function,-2.16142904093885,0.7064782905449511,0.3350403378641041,Uncertain,0.6857,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317N,NP_000240:p.Leu317Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65168,0.42653,0.8510893956063675,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.4545,0.3563,-22.2273,loss_of_function,-5.84847714136983,0.25130862641576074,0.9511998048482828,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317P,NP_000240:p.Leu317Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.27887,3.02449,2.666955238156735,Uncertain,Uncertain,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.4701,0.3563,-22.2273,loss_of_function,-7.45458876790825,0.053032588324468305,0.9868157786025862,Pathogenic,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317Q,NP_000240:p.Leu317Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.16221,0.64218,0.9928850900679675,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.4074,0.3563,-22.2273,loss_of_function,-5.71160791543603,0.26820526510909054,0.900222175523981,Pathogenic,0.9675,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317R,NP_000240:p.Leu317Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.51929,0.17687,0.5711634654395444,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.99,T,-0.3939,0.3563,-7.9395,loss_of_function,-5.96778998257906,0.2365793404449169,0.8253186288009969,Pathogenic,0.9554,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317S,NP_000240:p.Leu317Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79251,1.0017,1.0983057453803242,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.4171,0.3563,-22.2273,loss_of_function,-5.44400183141357,0.3012414957373791,0.8810878033607086,Pathogenic,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317T,NP_000240:p.Leu317Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.81103,0.7034,0.9324292174928857,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.3898,0.3563,-22.2273,loss_of_function,-5.2563973750018,0.3244014478421816,0.9378335246300578,Pathogenic,0.9796,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317V,NP_000240:p.Leu317Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.44448,0.29048,0.7131812780275715,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,DOWN,neutral,destabilizing,neutral,,,,83.99,T,-0.2971,0.3563,-22.2273,loss_of_function,-3.66987588711445,0.520259064316189,0.9277623724296332,Pathogenic,0.7992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317W,NP_000240:p.Leu317Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.54827,0.17891,0.2612087148987219,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.99,T,-0.4193,0.3563,-22.2273,loss_of_function,-6.85323838630638,0.1272698761932349,0.9673181774899992,Pathogenic,0.9601,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L317Y,NP_000240:p.Leu317Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.29225,1.02959,0.5558276303015397,Neutral,Neutral,False,0.047,,,,,,,Uncertain,Uncertain,Uncertain,72.8,,False,72.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,83.99,T,-0.4122,0.3563,-22.2273,loss_of_function,-6.85323838630638,0.1272698761932349,0.9501156085025462,Pathogenic,0.9805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318A,NP_000240:p.His318Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.23723,0.94592,1.2406796708028924,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.1513,1.583,-22.2273,loss_of_function,-4.95459828328552,0.3616588384346549,0.8833840860518152,Pathogenic,0.9297,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318C,NP_000240:p.His318Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64918,1.45884,1.6318969006973367,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.2059,1.583,-22.2273,loss_of_function,-4.69684751966001,0.39347842020109625,0.959933527973306,Pathogenic,0.5475,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318D,NP_000240:p.His318Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.86051,0.70986,1.0183433177807126,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.1067,1.583,-4.2391,loss_of_function,-2.38707852444629,0.6786216429446661,0.488104465118674,Uncertain,0.8046,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318E,NP_000240:p.His318Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56752,1.18265,1.2105187533072044,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.1423,1.583,-8.9394,loss_of_function,-2.81489353545973,0.6258074648899639,0.7431358731878116,Pathogenic,0.8956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318F,NP_000240:p.His318Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.03075,-0.68299,0.1761074677048546,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.0971,1.583,-7.3546,loss_of_function,-2.8769295246835,0.6181490618505229,0.5271168132370734,Uncertain,0.5911,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318G,NP_000240:p.His318Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43463,1.17551,1.6804250017953732,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.2339,1.583,-22.2273,loss_of_function,-4.41152364099939,0.42870192976225757,0.8835646355030367,Pathogenic,0.8535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318I,NP_000240:p.His318Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.69732,5.37483,1.840687229836911,Destabilizing,Uncertain,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.2376,1.583,-22.2273,loss_of_function,-6.10816836990126,0.21924949237459354,0.969031376125674,Pathogenic,0.9705,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318K,NP_000240:p.His318Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.62687,0.71463,1.0031116508713152,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.1214,1.583,-7.9395,loss_of_function,-4.4618112512021,0.4224938755079202,0.6811277566993336,Pathogenic,0.866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318L,NP_000240:p.His318Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.66587,0.52313,0.5108385837102108,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.2011,1.583,-22.2273,loss_of_function,-6.10816836990126,0.21924949237459354,0.9640485826135118,Pathogenic,0.5695,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318M,NP_000240:p.His318Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.60697,0.2983,0.8638715328731855,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.1513,1.583,-22.2273,loss_of_function,-6.10816836990126,0.21924949237459354,0.9542459144742989,Pathogenic,0.9261,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318N,NP_000240:p.His318Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.54634,-0.03878,0.58631599694487,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.0541,1.583,-1.8628,loss_of_function,-1.68691881521324,0.765057038146358,0.0081299097068969,Benign,0.3271,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318P,NP_000240:p.His318Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.57189,7.48776,5.889449575545678,Destabilizing,Destabilizing,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.2468,1.583,-8.9394,loss_of_function,-6.10816836990126,0.21924949237459354,0.9764693228130517,Pathogenic,0.9633,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318Q,NP_000240:p.His318Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.00696,0.5051,1.140875246686579,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,187486,Uncertain significance,2,85.0,T,-0.1196,1.583,-22.2273,loss_of_function,-3.5449045983177,0.5356868911299374,0.8006333316746735,Pathogenic,0.7526,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318R,NP_000240:p.His318Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.73995,0.51122,0.6897699500482407,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,575285,Uncertain significance,2,85.0,T,-0.1148,1.583,-7.9395,loss_of_function,-4.06241210756215,0.4718000871743295,0.5162073247818584,Uncertain,0.5373,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318S,NP_000240:p.His318Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42933,1.37381,1.4751821143955457,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.1573,1.583,-22.2273,loss_of_function,-3.70061001327803,0.5164649066317407,0.6325408973176266,Uncertain,0.8221,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318T,NP_000240:p.His318Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.05103,2.49626,1.824364555226302,Uncertain,Uncertain,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.2021,1.583,-22.2273,loss_of_function,-5.04221720196074,0.35084219794111193,0.9270839297279037,Pathogenic,0.9541,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318V,NP_000240:p.His318Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.85707,4.76871,1.85966862293264,Uncertain,Uncertain,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,DOWN,neutral,mixed_effects,neutral,,,,85.0,T,-0.194,1.583,-22.2273,loss_of_function,-6.10816836990126,0.21924949237459354,0.9749163314163805,Pathogenic,0.9439,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318W,NP_000240:p.His318Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.17408,-1.05442,0.1239217479189408,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,85.0,T,-0.1892,1.583,-22.2273,loss_of_function,-3.79585080188983,0.504707338901945,0.9744862676680612,Pathogenic,0.6379,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H318Y,NP_000240:p.His318Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.79683,-0.60782,0.3563309706745859,Neutral,Neutral,False,0.065,,,,,,,Uncertain,Uncertain,Uncertain,59.5,,False,59.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3201627,Uncertain significance,1,85.0,T,-0.0301,1.583,-3.9854,loss_of_function,-0.653801519071019,0.8925963703932427,0.0161078494285434,Benign,0.1568,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319A,NP_000240:p.Glu319Ala,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.15597,0.18367,0.488705907076673,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,479668,Uncertain significance,2,87.56,H,-0.2861,0.3744,-22.2273,loss_of_function,-6.13880968453067,0.215466792364058,0.8723386816119072,Pathogenic,0.6507,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319C,NP_000240:p.Glu319Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.52057,0.86224,0.857019827104698,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.3555,0.3744,-22.2273,loss_of_function,-6.13880968453067,0.215466792364058,0.985701117547624,Pathogenic,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319D,NP_000240:p.Glu319Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.2202,1.18367,1.1215875062727247,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.1789,0.3744,-7.9395,loss_of_function,-3.26141895445564,0.5706834688222812,0.6164651064071327,Uncertain,0.5863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319F,NP_000240:p.Glu319Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.03963,-0.34762,-0.7469209085890566,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.3331,0.3744,-22.2273,loss_of_function,-6.51822642454508,0.1686274278064964,0.9849930537089072,Pathogenic,0.995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319G,NP_000240:p.Glu319Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.97428,1.85306,1.870250128154335,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.3119,0.3744,-22.2273,loss_of_function,-6.8976431645595,0.12178806324893371,0.8925594256821974,Pathogenic,0.6027,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319H,NP_000240:p.Glu319His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.31589,0.1881,0.0119031912902578,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.3244,0.3744,-22.2273,loss_of_function,-5.88947592328967,0.24624728702233706,0.9454660481657108,Pathogenic,0.9314,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319I,NP_000240:p.Glu319Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23599,-0.13333,-0.5021127993572572,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.3385,0.3744,-22.2273,loss_of_function,-6.34180768712126,0.19040649205301652,0.9724563746170184,Pathogenic,0.9645,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319K,NP_000240:p.Glu319Lys,"hg19,3:g.37061871G>A, hg38,3:g.37020380G>A",3.18390219052e-05,6.76256245425e-05,0.864,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.67102,0.23061,0.6479667463001348,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,90452,Conflicting classifications of pathogenicity,1,87.56,H,-0.3081,0.3744,-22.2273,loss_of_function,-4.98265043057374,0.358195773643667,0.9375989982759324,Pathogenic,0.6711,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319L,NP_000240:p.Glu319Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.13367,-0.83673,-0.6921776167335325,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.2728,0.3744,-8.9394,loss_of_function,-5.50634669357101,0.29354496203469543,0.960359953903531,Pathogenic,0.9578,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319M,NP_000240:p.Glu319Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30039,-0.44286,-0.3524486606667643,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.2894,0.3744,-22.2273,loss_of_function,-6.34180768712126,0.19040649205301652,0.9742155711624132,Pathogenic,0.9442,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319N,NP_000240:p.Glu319Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.93164,1.07721,0.585005359702789,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.3123,0.3744,-22.2273,loss_of_function,-4.14118976794501,0.46207490859226596,0.9158059122337388,Pathogenic,0.8279,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319P,NP_000240:p.Glu319Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.17664,6.15782,3.0969018645195687,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.4431,0.3744,-22.2273,loss_of_function,-6.8976431645595,0.12178806324893371,0.8937016985567584,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319Q,NP_000240:p.Glu319Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7322,-0.74184,0.3465029504732864,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.1663,0.3744,-4.1322,loss_of_function,-2.58445310218396,0.6542555598859735,0.0269901922555167,Benign,0.2976,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319R,NP_000240:p.Glu319Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.2982,0.26122,0.1088084221977908,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.3686,0.3744,-22.2273,loss_of_function,-6.06950605314586,0.22402239287728967,0.967462927973291,Pathogenic,0.825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319S,NP_000240:p.Glu319Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.67623,1.43537,1.0679078369089394,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.2996,0.3744,-22.2273,loss_of_function,-5.20836650193699,0.3303309057079974,0.9068421477904532,Pathogenic,0.6269,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319T,NP_000240:p.Glu319Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.08278,0.28027,0.4333072839235014,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.56,H,-0.3155,0.3744,-22.2273,loss_of_function,-6.13880968453067,0.215466792364058,0.9263788715434966,Pathogenic,0.8275,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319V,NP_000240:p.Glu319Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.57587,0.23912,-0.3737901672310845,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.56,H,-0.2994,0.3744,-22.2273,loss_of_function,-6.34180768712126,0.19040649205301652,0.9790650756567352,Pathogenic,0.8859,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319W,NP_000240:p.Glu319Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.13016,0.07653,-0.7603812220832062,Neutral,Neutral,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.3432,0.3744,-22.2273,loss_of_function,-6.51822642454508,0.1686274278064964,0.9897737511616708,Pathogenic,0.998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E319Y,NP_000240:p.Glu319Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.16953,-0.53844,-0.3961536688389855,Uncertain,Uncertain,False,0.031,,,,,,,Uncertain,Uncertain,Uncertain,30.3,,False,30.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.56,H,-0.334,0.3744,-22.2273,loss_of_function,-6.51822642454508,0.1686274278064964,0.9883249943075274,Pathogenic,0.9876,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320A,NP_000240:p.Glu320Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.29184,0.23129,0.4762781818159661,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.1346,1.2294,-7.9395,loss_of_function,-2.95928743560213,0.6079818978672722,0.0525991949106887,Benign,0.2426,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320C,NP_000240:p.Glu320Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.67857,1.28367,1.3051638258363458,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.2768,1.2294,-22.2273,loss_of_function,-4.06343195188489,0.4716741864035229,0.9045386264552984,Pathogenic,0.8561,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320D,NP_000240:p.Glu320Asp,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.0959,0.22211,0.3036765419653475,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90454,Conflicting classifications of pathogenicity,1,89.85,H,-0.0628,1.2294,-0.5997,loss_of_function,-0.077245107102992,0.9637728186626163,2.3280941728537776e-05,Benign,0.0565,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320F,NP_000240:p.Glu320Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.57094,0.67007,0.1625052945036803,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.1866,1.2294,-8.9394,loss_of_function,-3.59121256497705,0.529970127730952,0.6831429834510974,Pathogenic,0.885,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320G,NP_000240:p.Glu320Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.02303,0.95374,1.032125340354675,Uncertain,Uncertain,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.1654,1.2294,-8.9394,loss_of_function,-2.67484131357437,0.6430970475207558,0.1080503442472788,Benign,0.1789,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320H,NP_000240:p.Glu320His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77976,0.65306,0.0994315772718446,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.1779,1.2294,-8.9394,loss_of_function,-3.70049723123573,0.516478829684252,0.1497674617260933,Benign,0.6782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320I,NP_000240:p.Glu320Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.23352,0.63197,0.1208124117028636,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.2598,1.2294,-22.2273,loss_of_function,-4.67460749901573,0.3962239723206089,0.6349061225047558,Uncertain,0.6348,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320K,NP_000240:p.Glu320Lys,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.2205,0.18912,0.2716094506497696,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1998163,Uncertain significance,1,89.85,H,-0.1617,1.2294,-8.9394,loss_of_function,-4.2793575247796,0.44501796499976626,0.4375041653757137,Uncertain,0.4662,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320L,NP_000240:p.Glu320Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.0656,0.19694,-0.0740417729040665,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.2619,1.2294,-22.2273,loss_of_function,-4.67460749901573,0.3962239723206089,0.7124505214397729,Pathogenic,0.6507,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320M,NP_000240:p.Glu320Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76318,0.24286,0.3332256997228972,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.2108,1.2294,-22.2273,loss_of_function,-4.67460749901573,0.3962239723206089,0.624893984826747,Uncertain,0.7021,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320N,NP_000240:p.Glu320Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.56439,0.29116,0.562619795306263,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.1527,1.2294,-6.3546,loss_of_function,-1.41914398260428,0.7981141009513221,0.0655170290528122,Benign,0.2083,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320P,NP_000240:p.Glu320Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14911,2.99626,1.1446440575456769,Uncertain,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.3644,1.2294,-22.2273,loss_of_function,-3.94208758288303,0.4866542664507804,0.4142628728966255,Uncertain,0.746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320Q,NP_000240:p.Glu320Gln,"hg19,3:g.37061874G>C",,,0.684,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",1.05269,0.27925,0.4853844191573253,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.1122,1.2294,-8.9394,loss_of_function,-2.0209931528605,0.7238152371393922,0.1197312479660971,Benign,0.3209,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320R,NP_000240:p.Glu320Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.34505,0.61939,0.2318210610324877,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.29,1.2294,-22.2273,loss_of_function,-4.58884745534572,0.40681113289180415,0.3174498213760551,Benign,0.6077,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320S,NP_000240:p.Glu320Ser,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.69476,0.42687,0.4909983018702657,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2697886,Uncertain significance,1,89.85,H,-0.1413,1.2294,-6.6176,loss_of_function,-2.50108531141377,0.6645473945163989,0.0275665430556571,Benign,0.2116,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320T,NP_000240:p.Glu320Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.65987,0.38129,0.5147344496810086,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.85,H,-0.1609,1.2294,-7.3546,loss_of_function,-2.45408397875547,0.6703497546204621,0.1166531458701512,Benign,0.3182,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320V,NP_000240:p.Glu320Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.59606,0.25816,0.2910251726058871,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.85,H,-0.2207,1.2294,-22.2273,loss_of_function,-4.10225052892827,0.4668819954167161,0.5391515556687703,Uncertain,0.4054,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320W,NP_000240:p.Glu320Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.12422,0.21633,-0.5250532843446692,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.2645,1.2294,-22.2273,loss_of_function,-4.49793814563462,0.41803397535013304,0.6814126251459233,Pathogenic,0.9576,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E320Y,NP_000240:p.Glu320Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.85704,0.62517,0.1146246978538634,Neutral,Neutral,False,0.024,,,,,,,Uncertain,Uncertain,Uncertain,102.9,,False,102.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.85,H,-0.2553,1.2294,-22.2273,loss_of_function,-4.49793814563462,0.41803397535013304,0.2742930265330561,Benign,0.7453,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321A,NP_000240:p.Ser321Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16522,-0.52109,-0.3331278358026435,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,-,uncertain,uncertain,neutral,,,,90.02,H,0.0611,2.6434,-2.9623,gain_of_function,-0.668720219087558,0.8907546424062988,8.019412694345106e-05,Benign,0.0698,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321C,NP_000240:p.Ser321Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4413,0.32721,0.4307857570240975,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0004,2.6434,-5.1322,loss_of_function,-0.482917295134657,0.9136921935817168,0.3012838854447049,Benign,0.0773,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321D,NP_000240:p.Ser321Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14871,-0.39558,0.0772603553299594,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0477,2.6434,-4.9396,loss_of_function,-1.84933095140796,0.7450071024068122,0.0050512147807483,Benign,0.2556,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321E,NP_000240:p.Ser321Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.23404,-0.38061,-0.4220991462221124,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0054,2.6434,-1.9062,loss_of_function,-1.581156635566,0.7781134818043558,0.0003319262408117,Benign,0.3738,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321F,NP_000240:p.Ser321Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44346,-0.45442,-0.6678882150743226,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0423,2.6434,-7.9395,loss_of_function,-3.46594558254361,0.5454344582109482,0.0969937084737261,Benign,0.2121,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321G,NP_000240:p.Ser321Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.95337,0.60204,0.7379369095928753,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,DOWN,neutral,neutral,neutral,,,,90.02,H,0.0317,2.6434,-6.9395,gain_of_function,-1.54467785283885,0.7826168229134175,0.0561886808003097,Benign,0.0667,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321H,NP_000240:p.Ser321His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.35608,-0.56667,-0.5840810171440874,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0436,2.6434,-7.9395,loss_of_function,-3.21146013678804,0.5768509333192576,0.0199238737857737,Benign,0.2634,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321I,NP_000240:p.Ser321Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.84616,-0.45102,-0.6221310048484696,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0455,2.6434,-7.9395,loss_of_function,-2.66495079959323,0.6443180410647061,0.0118264783925923,Benign,0.1208,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321K,NP_000240:p.Ser321Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.98548,-0.66565,-0.282837325512304,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0418,2.6434,-5.7696,loss_of_function,-1.88566861282222,0.7405211828607028,0.0011528966008436,Benign,0.4773,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321L,NP_000240:p.Ser321Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.92124,-1.18197,-0.9545796011520946,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0336,2.6434,-6.3546,loss_of_function,-2.26877353586261,0.6932265085313523,0.0020057117720314,Benign,0.0994,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321M,NP_000240:p.Ser321Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.9145,-0.61871,-0.564794187004995,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0128,2.6434,-7.9395,loss_of_function,-2.67033226586889,0.6436536938333999,0.0197006220027419,Benign,0.1458,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321N,NP_000240:p.Ser321Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.30348,-0.44286,-0.1380329663397128,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,483567,Uncertain significance,2,90.02,H,0.0134,2.6434,-7.9395,gain_of_function,-0.563215311254462,0.9037793256093083,0.0197248363154134,Benign,0.0809,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321P,NP_000240:p.Ser321Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.3995,3.22517,3.9653572976087617,Uncertain,Uncertain,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.1906,2.6434,-22.2273,loss_of_function,-4.66626997410173,0.3972532478579502,0.1131365805378546,Benign,0.4831,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321Q,NP_000240:p.Ser321Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.56904,-0.54592,-0.3126486778123438,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,0.0124,2.6434,-4.2957,gain_of_function,-1.55160088072698,0.7817621684058648,0.0008140015019391,Benign,0.3584,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321R,NP_000240:p.Ser321Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.71708,-0.52857,-0.6094058873825886,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,1491745,Uncertain significance,1,90.02,H,-0.0552,2.6434,-7.3546,loss_of_function,-2.84513429215312,0.6220742141451379,0.0197063160228856,Benign,0.4143,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321T,NP_000240:p.Ser321Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.05435,0.08571,-0.0010259764775105,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,neutral,,,UP,neutral,neutral,neutral,,,,90.02,H,0.0552,2.6434,-5.9396,gain_of_function,-1.41619635353379,0.7984779886190299,0.0090385969827657,Benign,0.0775,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321V,NP_000240:p.Ser321Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.04981,-0.1466,-0.3726811599856988,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.0072,2.6434,-5.4801,loss_of_function,-1.43828564793773,0.7957510438000792,0.0046663953447554,Benign,0.126,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321W,NP_000240:p.Ser321Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27023,-0.29524,-1.217385068214461,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.052,2.6434,-7.9395,loss_of_function,-3.16813555892414,0.5821993944778048,0.1289363065441999,Benign,0.3614,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S321Y,NP_000240:p.Ser321Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.38567,-0.66973,-0.5840278210551769,Neutral,Neutral,False,0.03,,,,,,,Uncertain,Uncertain,Uncertain,60.3,,False,60.3,,uncertain,,,UP,neutral,neutral,neutral,,,,90.02,H,-0.1201,2.6434,-22.2273,loss_of_function,-3.45048782678879,0.5473427331516221,0.057836341152038,Benign,0.1665,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322A,NP_000240:p.Ile322Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.36194,3.15204,2.881244924282276,Destabilizing,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.3612,0.7067,-22.2273,loss_of_function,-5.23775222040382,0.3267032102615564,0.7795899081265183,Pathogenic,0.9472,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322C,NP_000240:p.Ile322Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.58087,2.91054,2.923532008339226,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.3412,0.7067,-22.2273,loss_of_function,-5.17695571224595,0.3342085981612182,0.7986280386133476,Pathogenic,0.9585,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322D,NP_000240:p.Ile322Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.63723,5.33537,3.738873021298795,Destabilizing,Destabilizing,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4853,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9771808292986576,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322E,NP_000240:p.Ile322Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.50619,4.54558,3.2945715128073942,Destabilizing,Destabilizing,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4662,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9720122158729172,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322F,NP_000240:p.Ile322Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.15054,1.69932,1.5564424273183948,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.36,H,-0.3222,0.7067,-22.2273,loss_of_function,-5.73319606558538,0.2655401870344373,0.8613768028092778,Pathogenic,0.8271,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322G,NP_000240:p.Ile322Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.03656,5.35544,4.204599705316587,Destabilizing,Destabilizing,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4519,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9639870265477356,Pathogenic,0.9944,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322H,NP_000240:p.Ile322His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.12714,3.60952,2.4955248770913885,Destabilizing,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4518,0.7067,-22.2273,loss_of_function,-5.97908548977809,0.23518489912549112,0.952965014054866,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322K,NP_000240:p.Ile322Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.4873,3.54286,3.2489231146893047,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.36,H,-0.4587,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9734864266166008,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322L,NP_000240:p.Ile322Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.5403,0.94184,1.149937792128895,Neutral,Neutral,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2730602,Uncertain significance,1,89.36,H,-0.1684,0.7067,-6.9395,loss_of_function,-2.30842371987146,0.6883316548580685,0.1506498695936584,Benign,0.3575,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322M,NP_000240:p.Ile322Met,"hg19,3:g.37061882C>G",,,0.782,"cBioPortal,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.39758,1.59524,1.704763630316367,Neutral,Neutral,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.36,H,-0.174,0.7067,-6.9395,loss_of_function,-2.34760038424167,0.6834952576434495,0.6290997710930288,Uncertain,0.4789,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322N,NP_000240:p.Ile322Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.80959,3.99558,2.802623451038872,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.3983,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.976057393110156,Pathogenic,0.9837,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322P,NP_000240:p.Ile322Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.52653,11.01088,7.472488650750376,Destabilizing,Destabilizing,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.5053,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9674897970423356,Pathogenic,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322Q,NP_000240:p.Ile322Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.60676,2.43367,2.811330051420334,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4259,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.9444404831572646,Pathogenic,0.9956,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322R,NP_000240:p.Ile322Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.10525,3.27211,2.685072246701293,Destabilizing,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.36,H,-0.4855,0.7067,-22.2273,loss_of_function,-6.3269940293535,0.19223525247246637,0.969679894793021,Pathogenic,0.9933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322S,NP_000240:p.Ile322Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.52048,4.58844,3.5218284462423703,Destabilizing,Destabilizing,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.4018,0.7067,-22.2273,loss_of_function,-5.71076320335067,0.26830954563532894,0.9739716681462036,Pathogenic,0.9653,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322T,NP_000240:p.Ile322Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.54973,2.91531,2.542295774166655,Uncertain,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,525716,Uncertain significance,1,89.36,H,-0.2508,0.7067,-8.9394,loss_of_function,-4.81229162076928,0.37922673394794965,0.8096814691061425,Pathogenic,0.9211,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322V,NP_000240:p.Ile322Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.50008,0.76122,1.3492374044352984,Neutral,Neutral,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.36,H,-0.1082,0.7067,-2.9623,loss_of_function,-0.659277282088928,0.8919203821376457,0.0047650659494138,Benign,0.092,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322W,NP_000240:p.Ile322Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.90587,4.27245,1.5431865208232438,Destabilizing,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.36,H,-0.4111,0.7067,-22.2273,loss_of_function,-5.97908548977809,0.23518489912549112,0.95794716101552,Pathogenic,0.9971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I322Y,NP_000240:p.Ile322Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.91389,4.14898,1.7441769261268654,Destabilizing,Uncertain,False,0.044,,,,,,,,,,1.5,,False,1.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.36,H,-0.42,0.7067,-22.2273,loss_of_function,-5.97908548977809,0.23518489912549112,0.9697937166003364,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323A,NP_000240:p.Leu323Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.11414,1.53741,2.735945826886037,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.1734,1.8494,-7.3546,loss_of_function,-2.78078014150356,0.630018796461017,0.0043720723703314,Benign,0.2501,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323C,NP_000240:p.Leu323Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.53929,1.65306,2.788270190633048,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.2385,1.8494,-22.2273,loss_of_function,-2.9490135041039,0.6092502246755905,0.1136462405256648,Benign,0.5019,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323D,NP_000240:p.Leu323Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.16969,2.94286,3.295448960480543,Uncertain,Destabilizing,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.3708,1.8494,-22.2273,loss_of_function,-5.04613062658844,0.35035908187512493,0.4662808047622216,Uncertain,0.9192,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323E,NP_000240:p.Leu323Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.86108,3.11463,2.936072919569697,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.3389,1.8494,-22.2273,loss_of_function,-5.04613062658844,0.35035908187512493,0.1715360120775519,Benign,0.6074,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323F,NP_000240:p.Leu323Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.98654,-0.03061,1.1623533568441384,Neutral,Neutral,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.7,H,-0.1068,1.8494,-7.3546,loss_of_function,-3.00288748900938,0.6025994289857101,0.0058265281684795,Benign,0.2155,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323G,NP_000240:p.Leu323Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.00451,3.27993,3.91092099271216,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.2563,1.8494,-8.9394,loss_of_function,-4.29978007519682,0.44249678134257975,0.1292907927961962,Benign,0.5859,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323H,NP_000240:p.Leu323His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.1967,1.02177,2.055948518471485,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.2917,1.8494,-22.2273,loss_of_function,-4.1403018965549,0.46218451717653664,0.1287104162424443,Benign,0.3996,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323I,NP_000240:p.Leu323Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41885,-0.42585,1.2177682168953925,Neutral,Neutral,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.7,H,-0.0154,1.8494,-1.0631,loss_of_function,-0.452056535125509,0.9175019843372249,6.626829200225309e-06,Benign,0.0765,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323K,NP_000240:p.Leu323Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.60169,1.82211,2.613600099623436,Neutral,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.7,H,-0.3379,1.8494,-22.2273,loss_of_function,-5.22812335031626,0.32789190361307147,0.1665598785411216,Benign,0.5371,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323M,NP_000240:p.Leu323Met,"hg19,3:g.37061883C>A, hg38,3:g.37020392C>A",,,0.553,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.06869,0.66361,1.4301523437609676,Neutral,Neutral,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1767761,Uncertain significance,1,91.7,H,-0.067,1.8494,-6.6176,loss_of_function,-0.618574836585308,0.8969451385130652,0.0905060825838529,Benign,0.1025,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323N,NP_000240:p.Leu323Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.74103,0.99082,2.4261321748974773,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.3171,1.8494,-22.2273,loss_of_function,-4.65661425968913,0.39844525516742807,0.1385338281483291,Benign,0.5868,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323P,NP_000240:p.Leu323Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.19319,9.39592,7.493138142649361,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.3327,1.8494,-22.2273,loss_of_function,-5.22812335031626,0.32789190361307147,0.7680344211099175,Pathogenic,0.9371,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323Q,NP_000240:p.Leu323Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.30448,2.05238,2.471201303275944,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.27,1.8494,-22.2273,loss_of_function,-5.04613062658844,0.35035908187512493,0.1500979023978747,Benign,0.2404,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323R,NP_000240:p.Leu323Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.71141,1.52653,2.12475747873732,Neutral,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.7,H,-0.3295,1.8494,-22.2273,loss_of_function,-5.22812335031626,0.32789190361307147,0.1160771210898489,Benign,0.3876,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323S,NP_000240:p.Leu323Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.29502,2.23401,3.316790959663172,Uncertain,Destabilizing,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.2068,1.8494,-7.9395,loss_of_function,-3.18392666124926,0.5802499675797087,0.0942494202299284,Benign,0.3081,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323T,NP_000240:p.Leu323Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.04177,1.24932,2.567484535931072,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.1629,1.8494,-4.6916,loss_of_function,-1.65721379288726,0.7687241519639091,0.0027334912157948,Benign,0.1688,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323V,NP_000240:p.Leu323Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.41853,-0.02721,1.62083219991497,Neutral,Neutral,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.7,H,-0.0592,1.8494,-2.5473,loss_of_function,-0.518465957626622,0.9093036767178282,3.7544016954241896e-05,Benign,0.0838,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323W,NP_000240:p.Leu323Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.81034,-0.46599,1.5763755873092071,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.7,H,-0.2819,1.8494,-22.2273,loss_of_function,-4.1403018965549,0.46218451717653664,0.2805865730264461,Benign,0.431,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L323Y,NP_000240:p.Leu323Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.40521,-0.24524,1.689636921522516,Uncertain,Uncertain,False,0.04,,,,,,,,,,15.7,,False,15.7,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.7,H,-0.2748,1.8494,-22.2273,loss_of_function,-3.95542737977147,0.48500745558640546,0.1192491265033062,Benign,0.5691,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324A,NP_000240:p.Glu324Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0433,-0.49286,0.0471194454020629,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.0856,1.5908,-4.8521,loss_of_function,-1.05477909269553,0.843095300014293,0.0465904645635486,Benign,0.1718,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324C,NP_000240:p.Glu324Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.73368,0.29898,0.8189545213865442,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.2436,1.5908,-22.2273,loss_of_function,-4.08626371836722,0.4688555826863586,0.961275265404912,Pathogenic,0.7756,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324D,NP_000240:p.Glu324Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.43877,0.71122,0.3464530121926046,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.0451,1.5908,-3.6542,loss_of_function,-0.329388054753566,0.9326455272173975,0.0066895775859776,Benign,0.1326,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324F,NP_000240:p.Glu324Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.28672,0.02381,-0.2180448429554887,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.2212,1.5908,-22.2273,loss_of_function,-4.73617053136798,0.388623956265686,0.8984410142106674,Pathogenic,0.7896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324G,NP_000240:p.Glu324Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.79963,0.61735,0.9676143456140408,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.119,1.5908,-6.3546,loss_of_function,-1.8819311543828,0.7409825757300741,0.0278835544697378,Benign,0.1459,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324H,NP_000240:p.Glu324His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.39756,-0.22415,-0.134870249890312,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1328,1.5908,-6.6176,loss_of_function,-3.05329249821937,0.5963768817100565,0.4885109382334234,Uncertain,0.4791,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324I,NP_000240:p.Glu324Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.1811,-0.70102,-0.5469480042002467,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1536,1.5908,-7.9395,loss_of_function,-4.2860375666596,0.44419330735059354,0.5935466197022684,Uncertain,0.5192,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324K,NP_000240:p.Glu324Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.09589,-0.4551,-0.1247672257523696,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1203,1.5908,-7.3546,loss_of_function,-3.23306639516123,0.574183619766808,0.4733376579449987,Uncertain,0.3271,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324L,NP_000240:p.Glu324Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10073,-0.7483,-0.570405460987447,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1558,1.5908,-7.9395,loss_of_function,-4.14055389040733,0.462153408291041,0.5932780780083282,Uncertain,0.4081,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324M,NP_000240:p.Glu324Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.19217,-0.70578,-0.0933542726503283,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1775,1.5908,-22.2273,loss_of_function,-4.94518134384793,0.3628213687418759,0.7310015268405018,Pathogenic,0.4942,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324N,NP_000240:p.Glu324Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22608,0.0119,0.2221343809741144,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.1194,1.5908,-6.3546,loss_of_function,-2.26269234178418,0.6939772378385886,0.1238127096483286,Benign,0.2804,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324P,NP_000240:p.Glu324Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.96422,5.2102,5.698098110459912,Destabilizing,Destabilizing,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.3312,1.5908,-22.2273,loss_of_function,-5.55978900262041,0.28694745714793785,0.8492394299960886,Pathogenic,0.9197,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324Q,NP_000240:p.Glu324Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.05784,-0.11497,0.1019668736364615,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.0541,1.5908,-4.0816,loss_of_function,-0.160046501220324,0.9535509062483439,0.0855213405830345,Benign,0.1526,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324R,NP_000240:p.Glu324Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64285,-0.48878,-0.2740407613720619,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.1808,1.5908,-7.3546,loss_of_function,-3.74335772843128,0.5111876597343323,0.604377629169483,Uncertain,0.4393,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324S,NP_000240:p.Glu324Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.35755,-0.00476,0.4813114323198181,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.1029,1.5908,-5.6176,loss_of_function,-2.80822127306919,0.6266311621536174,0.0432371067838422,Benign,0.1845,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324T,NP_000240:p.Glu324Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.22972,-0.57143,0.1155449946533071,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.81,H,-0.1226,1.5908,-6.3546,loss_of_function,-2.82654245743879,0.6243693941731603,0.0992005041424467,Benign,0.2566,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324V,NP_000240:p.Glu324Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.34166,-0.6449,-0.2714091748328229,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.81,H,-0.1874,1.5908,-22.2273,loss_of_function,-4.10093525126808,0.4670443677195768,0.7176651484500011,Pathogenic,0.3091,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324W,NP_000240:p.Glu324Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.16709,-0.11531,-0.653899229871861,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.2313,1.5908,-22.2273,loss_of_function,-4.73617053136798,0.388623956265686,0.93498433579272,Pathogenic,0.9028,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E324Y,NP_000240:p.Glu324Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.22995,-0.6915,-0.1339823967260628,Neutral,Neutral,False,0.028,,,,,,,Uncertain,Uncertain,Uncertain,69.8,,False,69.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.81,H,-0.222,1.5908,-22.2273,loss_of_function,-4.73617053136798,0.388623956265686,0.7949487686285404,Pathogenic,0.6541,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325A,NP_000240:p.Arg325Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.48916,1.14524,0.8305015491605602,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0299,3.0645,-3.0327,loss_of_function,-0.76747621482976,0.8785631189467954,9.628114143660416e-05,Benign,0.1879,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325C,NP_000240:p.Arg325Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.03127,1.71293,1.3637113203985298,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0512,3.0645,-5.4801,loss_of_function,-0.314035847397367,0.9345407721058886,0.0032587268023143,Benign,0.0955,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325D,NP_000240:p.Arg325Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.90753,2.30306,1.7480196654976532,Uncertain,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.1392,3.0645,-6.6176,loss_of_function,-1.260343522228,0.8177181718080552,0.0008861168326154,Benign,0.41,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325E,NP_000240:p.Arg325Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.01089,1.88776,1.12799725893801,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0801,3.0645,-5.7696,loss_of_function,-2.01003221123021,0.7251683760148563,0.0011793313757723,Benign,0.2173,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325F,NP_000240:p.Arg325Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06633,1.71905,-0.1251175739557192,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.58,H,-0.079,3.0645,-6.3546,loss_of_function,-2.02412007258924,0.7234292158660265,0.0073387392270001,Benign,0.3575,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325G,NP_000240:p.Arg325Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.8764,2.97313,2.138244347433171,Uncertain,Uncertain,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2676578,Uncertain significance,1,91.58,H,-0.0873,3.0645,-7.3546,loss_of_function,-2.44027107573525,0.672054970895679,0.012344932888796,Benign,0.1491,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325H,NP_000240:p.Arg325His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.03908,1.48878,0.7060027672148578,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0098,3.0645,-5.0327,loss_of_function,-0.826247923204099,0.8713076945442985,0.0033473901061496,Benign,0.0825,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325I,NP_000240:p.Arg325Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.20485,0.5915,-0.3955910452461131,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.069,3.0645,-4.9396,loss_of_function,-1.57041312336291,0.7794397788061435,0.0005697955603367,Benign,0.1694,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325K,NP_000240:p.Arg325Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.25637,1.21939,0.628752127975688,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.58,H,0.0799,3.0645,-3.0327,gain_of_function,-0.407412747567858,0.9230133032119896,2.669451468097273e-05,Benign,0.0731,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325L,NP_000240:p.Arg325Leu,"hg19,3:g.37061890G>T",,,0.415,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.40426,0.33367,-0.266288740937759,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1768075,Uncertain significance,1,91.58,H,-0.0436,3.0645,-5.2391,loss_of_function,-1.87753263347259,0.74152557740264,0.0034743200785887,Benign,0.1371,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325M,NP_000240:p.Arg325Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.27461,1.23367,0.2815619726302459,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0165,3.0645,-6.6176,loss_of_function,-2.15583689210364,0.7071686467425787,0.0065260429217709,Benign,0.1644,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325N,NP_000240:p.Arg325Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.35687,1.63844,1.2644179441182686,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0631,3.0645,-6.6176,loss_of_function,-1.69782099209423,0.7637111538361919,0.0312465697063243,Benign,0.2758,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325P,NP_000240:p.Arg325Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.12171,10.2551,6.390124874360292,Destabilizing,Destabilizing,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,2710935,Uncertain significance,1,91.58,H,-0.2699,3.0645,-22.2273,loss_of_function,-4.13328943807893,0.46305021197689844,0.1910047001711233,Benign,0.8964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325Q,NP_000240:p.Arg325Gln,"hg19,3:g.37061890G>A, hg38,3:g.37020399G>A",,4.37626314868e-05,0.396,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.07541,1.63469,0.9574129143672452,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,90456,Likely benign,3,91.58,H,-0.0245,3.0645,-6.9395,loss_of_function,-2.16000353061859,0.7066542711766141,0.0065777735866932,Benign,0.0787,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325S,NP_000240:p.Arg325Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94713,2.08776,1.5285325717325997,Uncertain,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0275,3.0645,-2.4639,loss_of_function,-0.313032111596469,0.93466468426405,1.1775834439198158e-05,Benign,0.2218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325T,NP_000240:p.Arg325Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.72262,1.04388,0.7741858341285176,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0445,3.0645,-4.9396,loss_of_function,-1.26751693022364,0.8168326076333824,0.0004052694552477,Benign,0.1218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325V,NP_000240:p.Arg325Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.29605,0.26327,-0.1712070051887393,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.58,H,-0.0622,3.0645,-6.1322,loss_of_function,-1.91571737844851,0.7368116335993259,0.0091111931011863,Benign,0.2056,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325W,NP_000240:p.Arg325Trp,"hg19,3:g.37061889C>T, hg38,3:g.37020398C>T",,7.9563989338e-06,0.632,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.85435,1.94864,-0.4972761568522504,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,418912,Uncertain significance,2,91.58,H,-0.0777,3.0645,-8.9394,loss_of_function,-2.26449766718952,0.6937543686662834,0.0592725938205394,Benign,0.1784,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +R325Y,NP_000240:p.Arg325Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.3459,1.47857,0.0264034301846632,Neutral,Neutral,False,0.036,,,,,,,Uncertain,Uncertain,Uncertain,51.5,,False,51.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.58,H,-0.0815,3.0645,-8.9394,loss_of_function,-2.56194428507068,0.6570342951902943,0.0411574784845666,Benign,0.2286,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326A,NP_000240:p.Val326Ala,"hg19,3:g.37061893T>C",0.0004140918646875,0.0004693939249288,0.856,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.63867,2.25646,2.9897760010296617,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,42496,Benign,3,92.69,H,-0.1636,1.2994,-8.9394,loss_of_function,-3.80078769979979,0.5040978740665788,0.2283092794288614,Benign,0.5782,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326C,NP_000240:p.Val326Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.48961,1.84388,2.873317499710104,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.2592,1.2994,-22.2273,loss_of_function,-4.81692557348513,0.37865466799062797,0.7896013696478685,Pathogenic,0.8439,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326D,NP_000240:p.Val326Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.5266,3.52041,4.0561983900426,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.398,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8886236929576572,Pathogenic,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326E,NP_000240:p.Val326Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",3.72474,3.94184,3.5018508570695337,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,231925,Conflicting classifications of pathogenicity,1,92.69,H,-0.3553,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8951870898109223,Pathogenic,0.9776,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326F,NP_000240:p.Val326Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.29953,2.02313,1.7388569829881857,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.3085,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.3581713865896165,Uncertain,0.4583,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326G,NP_000240:p.Val326Gly,"hg19,3:g.37061893T>G, hg38,3:g.37020402T>G",,,0.867,"cBioPortal,COSMIC,saturation","DNA mismatch repair protein, C-terminal domain (PF01119)",4.43684,4.33605,5.204100827119823,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.3572,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8948705461325941,Pathogenic,0.7654,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326H,NP_000240:p.Val326His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.63382,3.19558,2.814080190816819,Destabilizing,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.4009,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8373905002067515,Pathogenic,0.989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326I,NP_000240:p.Val326Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.43385,-0.70952,-0.0361693697619958,Neutral,Neutral,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.0592,1.2994,-1.1322,loss_of_function,-0.361944536087481,0.9286263980196378,0.000102066540027,Benign,0.0783,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326K,NP_000240:p.Val326Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.29333,6.15884,5.762854085874595,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.3942,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8664812938193884,Pathogenic,0.9874,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326L,NP_000240:p.Val326Leu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.24441,0.67347,0.0681902404198658,Neutral,Neutral,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1213831,Uncertain significance,2,92.69,H,-0.1465,1.2994,-5.4801,loss_of_function,-0.136832271006025,0.956416725484178,0.0080366572651335,Benign,0.2608,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326M,NP_000240:p.Val326Met,"hg38,3:g.37020401G>A",,3.9781361636e-06,0.763,"COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.79857,1.34558,1.0533568427439466,Neutral,Neutral,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,182522,Conflicting classifications of pathogenicity,1,92.69,H,-0.1544,1.2994,-5.2391,loss_of_function,-0.614673155745054,0.8974268047971016,0.0461705281322765,Benign,0.2064,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326N,NP_000240:p.Val326Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.28496,2.24558,2.783115360850106,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.3858,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8775949231907569,Pathogenic,0.9641,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326P,NP_000240:p.Val326Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.19603,9.67211,7.826914754483933,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.4357,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.907825545315927,Pathogenic,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326Q,NP_000240:p.Val326Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.26431,2.49626,2.504350012287734,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.69,H,-0.3659,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8889637842124951,Pathogenic,0.9644,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326R,NP_000240:p.Val326Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.09254,4.97279,4.383045483467571,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.4152,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.9039034122525804,Pathogenic,0.9841,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326S,NP_000240:p.Val326Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.07858,3.25374,3.80212664895631,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.335,1.2994,-22.2273,loss_of_function,-4.81692557348513,0.37865466799062797,0.8777451955839357,Pathogenic,0.8158,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326T,NP_000240:p.Val326Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.0891,1.82347,2.5985666633536173,Uncertain,Uncertain,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.69,H,-0.2504,1.2994,-22.2273,loss_of_function,-3.82010666005738,0.5017129296849894,0.1446053485372357,Benign,0.6062,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326W,NP_000240:p.Val326Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.04591,3.45408,3.205157417884801,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.3491,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8787589789245072,Pathogenic,0.9817,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +V326Y,NP_000240:p.Val326Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.6666,7.20918,3.1423976238259423,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.69,H,-0.352,1.2994,-22.2273,loss_of_function,-5.29145515131549,0.32007353135312,0.8522465668579868,Pathogenic,0.9525,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327A,NP_000240:p.Gln327Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74511,-0.18605,0.1910947785000222,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,0.0091,2.3512,-4.0816,gain_of_function,-1.83211099724866,0.7471329224497057,0.0761449103239322,Benign,0.4197,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327C,NP_000240:p.Gln327Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.238,-0.41293,0.7123085296067996,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.0276,2.3512,-2.2253,loss_of_function,-1.86508367726712,0.7430624131206608,0.0636810788361098,Benign,0.7292,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327D,NP_000240:p.Gln327Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.81852,1.40272,1.0095884067852312,Uncertain,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.17,2.3512,-22.2273,loss_of_function,-2.98854073292398,0.6043705499396167,0.7291676119286259,Pathogenic,0.9581,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327E,NP_000240:p.Gln327Glu,"hg19,3:g.37061895C>G",,,0.772,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.45683,0.99592,0.5099395481126914,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,141891,Uncertain significance,2,92.86,H,-0.0208,2.3512,-8.9394,loss_of_function,-1.5799220646775,0.7782658907779725,0.4135329362994295,Uncertain,0.2301,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327F,NP_000240:p.Gln327Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.85257,-0.46327,-0.636279016331886,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.1377,2.3512,-22.2273,loss_of_function,-4.70370126788656,0.39263231833496115,0.5476679875957161,Uncertain,0.9378,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327G,NP_000240:p.Gln327Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.77565,1.53299,1.4645985305800802,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.0745,2.3512,-6.6176,loss_of_function,-3.7094020311094,0.5153795235029297,0.1931772778603039,Benign,0.4452,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327H,NP_000240:p.Gln327His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.25103,0.64252,-0.0685830820438415,Uncertain,Uncertain,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0167,2.3512,-8.9394,loss_of_function,-3.78007864778421,0.5066544266239656,0.6430265561979056,Uncertain,0.5837,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327I,NP_000240:p.Gln327Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.10571,-0.25986,-0.4419530395863957,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0462,2.3512,-7.9395,loss_of_function,-2.95812358096617,0.608125576850924,0.2110401368995353,Benign,0.6325,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327K,NP_000240:p.Gln327Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14576,-0.31667,0.4341617205695142,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0206,2.3512,-3.416,loss_of_function,-2.12216252138413,0.7113257804692501,0.0108548190413097,Benign,0.1969,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327L,NP_000240:p.Gln327Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.57509,-0.96599,-0.8264645682601546,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0295,2.3512,-7.9395,loss_of_function,-3.60382692646951,0.528412872569823,0.6622955004550907,Uncertain,0.3325,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327M,NP_000240:p.Gln327Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.58532,-0.67993,-0.4252996934722869,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0056,2.3512,-8.9394,loss_of_function,-3.73492571600013,0.5122285998473107,0.5699720456595238,Uncertain,0.6049,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327N,NP_000240:p.Gln327Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.91355,0.83333,0.4138172470596912,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.0262,2.3512,-7.9395,loss_of_function,-2.32078485530154,0.6868056606999485,0.4773929960589351,Uncertain,0.7953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327P,NP_000240:p.Gln327Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",4.5973,7.82755,5.322879959021047,Destabilizing,Destabilizing,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,927195,Uncertain significance,2,92.86,H,-0.2571,2.3512,-22.2273,loss_of_function,-5.87266205906261,0.24832297486922195,0.9406874468104542,Pathogenic,0.9433,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327R,NP_000240:p.Gln327Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.04887,-0.6415,-0.3842485135187878,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2808344,Uncertain significance,1,92.86,H,-0.0321,2.3512,-5.9396,loss_of_function,-2.30833493586578,0.6883426153296828,0.0262273175088632,Benign,0.1908,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327S,NP_000240:p.Gln327Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.6195,0.66122,0.9172891455993764,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.0098,2.3512,-4.1847,loss_of_function,-2.13965408326638,0.7091664301895213,0.0981280826543887,Benign,0.5032,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327T,NP_000240:p.Gln327Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.56257,-0.03605,0.3348119632337026,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.86,H,-0.0251,2.3512,-5.2391,loss_of_function,-1.85999922927645,0.7436900931566021,0.0201276876647613,Benign,0.3987,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327V,NP_000240:p.Gln327Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.88907,-0.85034,-0.2955487499603149,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.86,H,-0.0352,2.3512,-5.7696,loss_of_function,-2.96572492719662,0.6071871832860993,0.1330097640118546,Benign,0.4859,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327W,NP_000240:p.Gln327Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.7835,-0.62483,-0.9186000595710976,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.1371,2.3512,-22.2273,loss_of_function,-4.70370126788656,0.39263231833496115,0.8926183427265809,Pathogenic,0.9071,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q327Y,NP_000240:p.Gln327Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.36912,-0.50816,-0.3358930413740796,Neutral,Neutral,False,0.048,,,,,,,Uncertain,Uncertain,Uncertain,32.3,,False,32.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.86,H,-0.0722,2.3512,-8.9394,loss_of_function,-3.91202674032905,0.49036530662059435,0.4340059355455536,Uncertain,0.8534,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328A,NP_000240:p.Gln328Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.15272,0.8585,-0.0505477212822302,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0676,3.0249,-4.7697,gain_of_function,-1.68181522424582,0.765687081401346,0.0017968390489744,Benign,0.1858,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328C,NP_000240:p.Gln328Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47398,1.35238,0.7758332531363573,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0082,3.0249,-7.3546,gain_of_function,-1.69925579883063,0.7635340255529398,0.1221510374243791,Benign,0.3759,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328D,NP_000240:p.Gln328Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.71472,1.55748,-0.0185752788677928,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,-0.0088,3.0249,-2.7898,loss_of_function,-1.50858269482209,0.7870728051798973,0.0044983194720798,Benign,0.3434,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328E,NP_000240:p.Gln328Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.13591,0.45238,-0.3038294910779121,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0685,3.0249,-3.582,gain_of_function,-1.43436386423481,0.7962351918020096,0.0024683360647025,Benign,0.0949,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328F,NP_000240:p.Gln328Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.60495,1.21735,-0.4400585684181679,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.009,3.0249,-5.6176,gain_of_function,-2.266669661971,0.6934862338038548,0.1340632141233524,Benign,0.5507,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328G,NP_000240:p.Gln328Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.74475,1.92993,0.6402705159125002,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,-0.0111,3.0249,-6.3546,loss_of_function,-2.2594100702692,0.6943824374406441,0.0048994825656568,Benign,0.1737,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328H,NP_000240:p.Gln328His,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.17483,0.77483,-0.3803129480559863,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,664823,Uncertain significance,1,92.09,H,0.0504,3.0249,-7.9395,gain_of_function,-1.17901798700719,0.8277578880100911,0.1318860803753626,Benign,0.1435,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328I,NP_000240:p.Gln328Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.2168,0.59082,-0.3537575997751252,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.0209,3.0249,-6.9395,gain_of_function,-2.02887269082176,0.7228425005355761,0.0068470568373861,Benign,0.3102,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328K,NP_000240:p.Gln328Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.34602,0.60646,-0.3391060430913128,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.0454,3.0249,-2.6177,gain_of_function,-0.807238410737764,0.8736544372959187,9.957475186487284e-05,Benign,0.0805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328L,NP_000240:p.Gln328Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.33756,0.47551,-0.6434590113763861,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.0427,3.0249,-5.9396,gain_of_function,-2.48010625463967,0.6671372794231073,0.0157752651008514,Benign,0.1035,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328M,NP_000240:p.Gln328Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.33914,0.97347,-0.3534814514147127,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.0564,3.0249,-8.9394,gain_of_function,-2.6009415320458,0.6522200472271192,0.1280271514430589,Benign,0.265,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328N,NP_000240:p.Gln328Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.33478,1.26803,0.0975105562894035,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0495,3.0249,-5.2391,gain_of_function,-1.14294659105357,0.8322109368268291,0.0117501145327392,Benign,0.2282,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328P,NP_000240:p.Gln328Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.00356,9.99762,4.9847515027002975,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,952113,Uncertain significance,2,92.09,H,-0.1951,3.0249,-22.2273,loss_of_function,-4.74449621838848,0.3875961421277792,0.667533368385816,Uncertain,0.7523,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328R,NP_000240:p.Gln328Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.03232,0.37721,-0.501606193815245,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,0.0316,3.0249,-5.6176,gain_of_function,-0.669314354959785,0.8906812957566098,0.006216550957642,Benign,0.0911,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328S,NP_000240:p.Gln328Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.58433,1.21837,0.2147756281859697,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0552,3.0249,-3.582,gain_of_function,-1.62263886127411,0.7729924608063697,0.0011171583072518,Benign,0.2151,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328T,NP_000240:p.Gln328Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.65549,0.98639,0.0677766120168521,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.09,H,0.0397,3.0249,-4.6916,gain_of_function,-1.62699290452548,0.7724549499439272,0.0021603913393403,Benign,0.1661,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328V,NP_000240:p.Gln328Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.42276,0.79286,-0.1796634451272788,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.09,H,0.0106,3.0249,-8.9394,gain_of_function,-2.74360276402388,0.6346083797698575,0.0439482251046937,Benign,0.2312,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328W,NP_000240:p.Gln328Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.29916,0.60816,-0.9222838934893824,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,-0.0751,3.0249,-22.2273,loss_of_function,-3.79914893152478,0.5043001815995981,0.2760724405177268,Benign,0.4113,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q328Y,NP_000240:p.Gln328Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.9771,0.79286,-0.3573770663347475,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,False,51.3,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.09,H,-0.078,3.0249,-22.2273,loss_of_function,-2.94389871530134,0.6098816503141877,0.1617984744494557,Benign,0.3161,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329A,NP_000240:p.His329Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07517,1.40442,1.5024833244495774,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,0.0619,2.7915,-2.2391,gain_of_function,-1.17357369134683,0.828429991589878,2.811411759139958e-06,Benign,0.1907,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329C,NP_000240:p.His329Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.20732,1.55952,1.9149872440929487,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,-0.0048,2.7915,-4.6176,loss_of_function,-1.10676607903453,0.8366774561276766,7.955062273703247e-05,Benign,0.1099,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329D,NP_000240:p.His329Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.18415,1.89966,2.503822120429036,Neutral,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,-0.0012,2.7915,-5.3546,loss_of_function,-2.55190280149941,0.6582739260765742,0.0049630333049033,Benign,0.2216,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329E,NP_000240:p.His329Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.4957,1.66293,2.0298725614283564,Neutral,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,-0.0041,2.7915,-3.6542,loss_of_function,-2.33178375243753,0.6854478361804921,0.0007279273103642,Benign,0.2218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329F,NP_000240:p.His329Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.10823,0.35306,-0.7569422615809163,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,-0.0618,2.7915,-22.2273,loss_of_function,-2.10711889904471,0.7131829302381179,0.0261845969113084,Benign,0.268,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329G,NP_000240:p.His329Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.1038,2.82959,2.9384252893716933,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,-0.0447,2.7915,-6.9395,loss_of_function,-3.22369303094213,0.5753407706710422,0.0030366966468017,Benign,0.26,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329I,NP_000240:p.His329Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.99325,0.54184,0.1188437798038044,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,-0.0467,2.7915,-6.6176,loss_of_function,-2.42594608939598,0.6738234043533111,0.0014983958863243,Benign,0.2342,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329K,NP_000240:p.His329Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.47789,1.9102,1.5245671482402592,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,0.006,2.7915,-4.7697,gain_of_function,-2.40765716128514,0.6760811902673383,0.0006883416994382,Benign,0.2021,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329L,NP_000240:p.His329Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.49807,0.56599,0.1133303023161763,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,-0.0103,2.7915,-6.6176,loss_of_function,-2.49338963335728,0.6654974334366424,0.0016454293127126,Benign,0.1172,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329M,NP_000240:p.His329Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.62149,0.95612,0.6872653429000097,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,0.0328,2.7915,-7.9395,gain_of_function,-1.96407394370568,0.7308419687164689,0.0007858414978758,Benign,0.358,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329N,NP_000240:p.His329Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.11373,1.66735,1.589817186936516,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,0.026,2.7915,-7.9395,gain_of_function,-2.56321514980754,0.6568774057058956,0.0099232997586359,Benign,0.0944,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329P,NP_000240:p.His329Pro,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.58149,9.80204,6.895492955991884,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,17085,Pathogenic,3,92.75,H,-0.2034,2.7915,-22.2273,loss_of_function,-5.17485776507686,0.33446759177407714,0.1219418947931677,Benign,0.87,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329Q,NP_000240:p.His329Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0071,1.87211,1.5956597838600006,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,0.0807,2.7915,-4.7697,gain_of_function,-0.521729354095973,0.9089008072584629,0.0001773591725763,Benign,0.1266,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329R,NP_000240:p.His329Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.64239,1.73435,0.9292513282843686,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,857488,Uncertain significance,2,92.75,H,0.0015,2.7915,-6.9395,gain_of_function,-2.51842101462013,0.6624072851413788,0.0012493302697289,Benign,0.1144,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329S,NP_000240:p.His329Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.15899,2.12721,2.2405675844184234,Uncertain,Uncertain,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,0.0441,2.7915,-4.5473,gain_of_function,-1.12518363791013,0.8344037906209787,0.0003395770839172,Benign,0.1697,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329T,NP_000240:p.His329Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.45837,0.77857,1.5525296936020403,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,-0.0037,2.7915,-5.1322,loss_of_function,-1.10785041068338,0.8365435943339145,0.0003236641515856,Benign,0.1775,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329V,NP_000240:p.His329Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.58015,0.10034,0.3526358227096265,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.75,H,0.0055,2.7915,-4.9396,gain_of_function,-1.44463436415464,0.7949672886253732,0.0001648480762193,Benign,0.1948,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329W,NP_000240:p.His329Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.07428,0.91803,-0.6639915049859885,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.75,H,-0.078,2.7915,-22.2273,loss_of_function,-2.78195918546293,0.6298732423406579,0.0327633520519987,Benign,0.4751,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +H329Y,NP_000240:p.His329Tyr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.22851,0.36735,-0.6156737177235572,Neutral,Neutral,False,0.061,,,,,,,Uncertain,Uncertain,Uncertain,22.9,,False,22.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,455466,Uncertain significance,2,92.75,H,0.0559,2.7915,-8.9394,gain_of_function,-1.09469468019712,0.838167682022411,0.0075411207965473,Benign,0.0884,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330A,NP_000240:p.Ile330Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.2028,4.06939,3.7321699480704016,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.1777,1.8083,-6.1322,loss_of_function,-1.89116724951644,0.7398423708275796,0.0397892681582682,Benign,0.3142,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330C,NP_000240:p.Ile330Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.84478,3.43367,3.605234207770982,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.172,1.8083,-8.9394,loss_of_function,-2.19153612767191,0.7027615414863769,0.0895747679070941,Benign,0.75,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330D,NP_000240:p.Ile330Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.00725,4.67551,5.09499926312198,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3839,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.7753377141868958,Pathogenic,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330E,NP_000240:p.Ile330Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.2197,4.26871,4.622007440659977,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3648,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.7718745773726494,Pathogenic,0.9831,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330F,NP_000240:p.Ile330Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.72915,2.10748,1.7563928130588855,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.14,H,-0.1347,1.8083,-5.3546,loss_of_function,-1.54251550742093,0.7828837665525555,0.0023684031927702,Benign,0.2706,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330G,NP_000240:p.Ile330Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",6.04352,6.24354,5.945519801045105,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3505,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.6897361017935362,Pathogenic,0.8736,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330H,NP_000240:p.Ile330His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.10155,3.00238,3.362325191873657,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3504,1.8083,-22.2273,loss_of_function,-3.10966873685546,0.5894171803701538,0.782341520138639,Pathogenic,0.9763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330K,NP_000240:p.Ile330Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.73861,6.04524,6.25771045317377,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.14,H,-0.3573,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.7141232933097166,Pathogenic,0.9803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330L,NP_000240:p.Ile330Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.30206,1.74354,1.0398491335781137,Neutral,Neutral,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,93.14,H,-0.0445,1.8083,-2.5302,loss_of_function,-0.471485872095642,0.9151034138434158,0.0016658376173748,Benign,0.1521,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330M,NP_000240:p.Ile330Met,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.17411,2.10238,1.7318875793842137,Uncertain,Neutral,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,1768572,Uncertain significance,2,93.14,H,-0.0676,1.8083,-5.9396,loss_of_function,-1.39272844736119,0.8013751243979608,0.1176649790942856,Benign,0.108,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330N,NP_000240:p.Ile330Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.2618,3.52551,3.60024078618766,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.297,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.7427523291035458,Pathogenic,0.9396,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330P,NP_000240:p.Ile330Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.26671,12.95612,9.075969403574357,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.4039,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.812343461978259,Pathogenic,0.9835,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330Q,NP_000240:p.Ile330Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.78157,3.18605,3.54325921510574,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3245,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.8224575200661053,Pathogenic,0.9676,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330R,NP_000240:p.Ile330Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.00011,5.93367,5.02167952817417,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.14,H,-0.3841,1.8083,-22.2273,loss_of_function,-3.84844338072199,0.49821473403467337,0.8206672090197041,Pathogenic,0.9649,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330S,NP_000240:p.Ile330Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.63591,5.03163,4.742876819722828,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,93.14,H,-0.3004,1.8083,-22.2273,loss_of_function,-3.05207152978369,0.5965276114476794,0.7250247714678196,Pathogenic,0.6965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330T,NP_000240:p.Ile330Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.77561,3.17585,3.384319908640075,Uncertain,Uncertain,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,630850,Uncertain significance,1,93.14,H,-0.1413,1.8083,-7.3546,loss_of_function,-2.4132474581922,0.6753910626920373,0.1510584175570444,Benign,0.2097,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330V,NP_000240:p.Ile330Val,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.48699,1.21088,1.4421645757638026,Neutral,Neutral,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,237354,Uncertain significance,2,93.14,H,-0.002,1.8083,-2.0088,loss_of_function,-0.0651779166438112,0.9652625250289766,5.359556187178852e-05,Benign,0.0503,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330W,NP_000240:p.Ile330Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",10.24523,3.16565,3.959769954952853,Destabilizing,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.14,H,-0.3097,1.8083,-22.2273,loss_of_function,-3.10966873685546,0.5894171803701538,0.8472422243743056,Pathogenic,0.9597,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I330Y,NP_000240:p.Ile330Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",8.09347,2.09014,3.483803586928534,Uncertain,Destabilizing,False,0.06,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,93.14,H,-0.3186,1.8083,-22.2273,loss_of_function,-3.10966873685546,0.5894171803701538,0.7579498407618053,Pathogenic,0.9207,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331A,NP_000240:p.Glu331Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.03081,-0.1534,0.3565167099516048,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.0445,2.0881,-5.7696,loss_of_function,-3.22401419658424,0.5753011224610196,0.587635700792842,Uncertain,0.5566,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331C,NP_000240:p.Glu331Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.29863,0.74898,1.0015054834707948,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.13,2.0881,-8.9394,loss_of_function,-3.65171354286883,0.5225012233292791,0.908527008058674,Pathogenic,0.9761,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331D,NP_000240:p.Glu331Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.05241,0.04966,1.2693630912438554,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,0.0013,2.0881,-3.5133,gain_of_function,-0.452247984227043,0.9174783497599507,0.0037876964351434,Benign,0.374,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331F,NP_000240:p.Glu331Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.45689,-0.9415,-0.4277446766819837,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1754,2.0881,-22.2273,loss_of_function,-4.76475470025167,0.3850952128927205,0.9027938580172636,Pathogenic,0.9844,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331G,NP_000240:p.Glu331Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.32511,1.51497,1.411981686712113,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.0813,2.0881,-7.9395,loss_of_function,-3.64509498334106,0.5233182909224362,0.7260312670330493,Pathogenic,0.536,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331H,NP_000240:p.Glu331His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.56648,-0.69422,0.2001715565669737,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.0908,2.0881,-7.3546,loss_of_function,-3.41824361406432,0.5513233124866712,0.4787043328395766,Uncertain,0.8886,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331I,NP_000240:p.Glu331Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.6339,-0.26667,-0.489097904714928,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1808,2.0881,-22.2273,loss_of_function,-4.08034054371093,0.4695868043426659,0.8442952198539615,Pathogenic,0.9376,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331K,NP_000240:p.Glu331Lys,"hg19,3:g.37061907G>A, hg38,3:g.37020416G>A",3.18451054073e-05,1.98933715286e-05,0.738,"cBioPortal,COSMIC,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.58963,-0.2585,0.401811562249868,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,230317,Uncertain significance,2,92.45,H,-0.0776,2.0881,-7.9395,loss_of_function,-2.96032449781476,0.6078538715312587,0.7014531828060436,Pathogenic,0.7803,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331L,NP_000240:p.Glu331Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-1.06306,-0.23163,-0.6562026172114371,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1049,2.0881,-6.9395,loss_of_function,-3.46710623221598,0.54529117488316,0.7063603030486219,Pathogenic,0.934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331M,NP_000240:p.Glu331Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.80814,-0.0432,-0.1311892931276226,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1317,2.0881,-22.2273,loss_of_function,-4.23415780012241,0.4505979148486821,0.8618273573528673,Pathogenic,0.9373,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331N,NP_000240:p.Glu331Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.06748,-0.19048,0.7576970947199008,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.0674,2.0881,-5.1322,loss_of_function,-2.23606383566937,0.6972645527459053,0.5089975533717113,Uncertain,0.6825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331P,NP_000240:p.Glu331Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.36254,10.77007,7.443164085592464,Destabilizing,Destabilizing,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.2854,2.0881,-22.2273,loss_of_function,-6.02848324895248,0.22908669784368157,0.9766983807674382,Pathogenic,0.9959,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331Q,NP_000240:p.Glu331Gln,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.73479,0.05714,0.4403768864408064,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1696792,Uncertain significance,2,92.45,H,-0.0012,2.0881,-2.6728,loss_of_function,-1.77130278432576,0.754639755313963,0.0398738988936086,Benign,0.4469,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331R,NP_000240:p.Glu331Arg,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.83927,0.1551,-0.0493517052922748,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1153,2.0881,-3.4802,loss_of_function,-2.57237614885942,0.6557464714875314,0.2204377646323572,Benign,0.8258,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331S,NP_000240:p.Glu331Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.64658,0.6983,0.9623094786213888,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.0571,2.0881,-5.6176,loss_of_function,-3.06308239304366,0.5951683096986118,0.2266166006403056,Benign,0.4881,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331T,NP_000240:p.Glu331Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.76776,-0.23741,0.5829878757102736,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,92.45,H,-0.09,2.0881,-8.9394,loss_of_function,-3.36698606811927,0.5576511062491577,0.7565734341339572,Pathogenic,0.7545,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331V,NP_000240:p.Glu331Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.87733,0.23844,-0.2381759528799182,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,92.45,H,-0.0739,2.0881,-8.9394,loss_of_function,-3.54769940779164,0.535341869189646,0.730847245805819,Pathogenic,0.8236,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331W,NP_000240:p.Glu331Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.47809,-0.32619,-0.8037268663004066,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1855,2.0881,-22.2273,loss_of_function,-4.76475470025167,0.3850952128927205,0.9788342870720184,Pathogenic,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E331Y,NP_000240:p.Glu331Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.94649,-1.05374,-0.1321602265399718,Neutral,Neutral,False,0.052,,,,,,,Uncertain,Uncertain,Uncertain,54.5,,False,54.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,92.45,H,-0.1763,2.0881,-22.2273,loss_of_function,-4.45628782198184,0.42317574820242976,0.8711508453051987,Pathogenic,0.9652,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332A,NP_000240:p.Ser332Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.07698,-0.21361,-0.5002985130357307,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,-,uncertain,uncertain,neutral,,,,91.45,H,0.0687,2.7604,-3.5791,gain_of_function,-0.115618953681804,0.9590355300830121,0.0001006877695184,Benign,0.0703,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332C,NP_000240:p.Ser332Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.7582,0.48197,0.3990837225825666,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0091,2.7604,-8.9365,loss_of_function,-1.8589022102398,0.743825521220694,0.219537075276893,Benign,0.0726,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332D,NP_000240:p.Ser332Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.60073,0.67551,-0.0044109745166015,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0349,2.7604,-4.5443,loss_of_function,-0.280419924628898,0.9386906903763143,0.0071094382254827,Benign,0.1587,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332E,NP_000240:p.Ser332Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27599,0.22177,-0.4385278782699997,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,0.0016,2.7604,-2.6512,gain_of_function,-0.942967251673506,0.856898580236678,0.0003097485836873,Benign,0.2044,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332F,NP_000240:p.Ser332Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14926,0.29694,-0.7835802951854742,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.1045,2.7604,-22.2244,loss_of_function,-2.68551975370554,0.6417787837293613,0.3499279687936656,Uncertain,0.1897,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332G,NP_000240:p.Ser332Gly,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.90528,0.86497,0.5774578787234771,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,DOWN,neutral,neutral,neutral,924644,Uncertain significance,2,91.45,H,0.0543,2.7604,-4.6147,gain_of_function,-0.702950051456417,0.8865289364002634,0.0114860779075477,Benign,0.0546,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332H,NP_000240:p.Ser332His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.32614,0.11837,-0.5722854078717959,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0328,2.7604,-7.9366,loss_of_function,-0.919264462319958,0.8598247125721141,0.054662795578594,Benign,0.174,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332I,NP_000240:p.Ser332Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.21643,-0.18299,-0.708485062989459,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0317,2.7604,-7.3516,loss_of_function,-1.99894928723487,0.7265365737315984,0.0076515695591625,Benign,0.1428,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332K,NP_000240:p.Ser332Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.26982,-0.15408,-0.5108005139307242,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0238,2.7604,-4.3517,loss_of_function,-1.77271461131353,0.7544654639029676,0.0010068030251394,Benign,0.2614,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332L,NP_000240:p.Ser332Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.49571,-0.33946,-1.1043517226770232,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0258,2.7604,-6.9366,loss_of_function,-2.22303934691961,0.6988724385147375,0.0162831532679532,Benign,0.102,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332M,NP_000240:p.Ser332Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.72259,0.09286,-0.6320273074915472,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,0.001,2.7604,-7.3516,gain_of_function,-1.37547774893394,0.803504739850552,0.0101936365773754,Benign,0.1426,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332N,NP_000240:p.Ser332Asn,"hg19,3:g.37061911G>A",,3.9789275994e-06,0.355,"cBioPortal,saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.06021,-0.00646,-0.175498401233683,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,1768729,Uncertain significance,1,91.45,H,0.038,2.7604,-5.2362,gain_of_function,-0.42584035142445,0.9207383976426454,0.0011608807973306,Benign,0.0732,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332P,NP_000240:p.Ser332Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.60048,7.6983,5.666798551697458,Destabilizing,Destabilizing,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.1799,2.7604,-22.2244,loss_of_function,-3.41021109143115,0.552314935196617,0.3823168198728601,Uncertain,0.8704,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332Q,NP_000240:p.Ser332Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.29975,-0.0432,-0.2408315387256088,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,0.0225,2.7604,-4.4131,gain_of_function,-0.942176424521613,0.856996208615616,0.0008498851258346,Benign,0.218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332R,NP_000240:p.Ser332Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.44914,0.02075,-0.8838740926422722,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,1405453,Uncertain significance,1,91.45,H,-0.0525,2.7604,-8.9365,loss_of_function,-2.05855376567631,0.7191783430566001,0.0121294292265026,Benign,0.2434,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332T,NP_000240:p.Ser332Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.27255,-0.20442,-0.2040118648882072,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,neutral,,,UP,neutral,neutral,neutral,,,,91.45,H,0.0777,2.7604,-3.6512,gain_of_function,-0.627041249801437,0.8958999515898153,0.0001297165287511,Benign,0.0709,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332V,NP_000240:p.Ser332Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.68467,-0.05986,-0.5647693839428342,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.0022,2.7604,-6.6147,loss_of_function,-2.05405401039138,0.7197338422109142,0.0370152754827234,Benign,0.1366,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332W,NP_000240:p.Ser332Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.30586,-0.17517,-1.3266739810119577,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.1142,2.7604,-22.2244,loss_of_function,-2.72661932851232,0.636705001356284,0.7003247299662302,Pathogenic,0.2806,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S332Y,NP_000240:p.Ser332Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.0493,0.06156,-0.6314158190261776,Neutral,Neutral,False,0.063,,,,,,,Uncertain,Uncertain,Uncertain,77.2,,False,77.2,,uncertain,,,UP,neutral,neutral,neutral,,,,91.45,H,-0.1093,2.7604,-22.2244,loss_of_function,-3.18790856396345,0.5797583978275264,0.2588829485493133,Benign,0.1397,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333A,NP_000240:p.Lys333Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.61855,-0.18129,0.3885764533700769,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0173,2.3356,-4.5384,loss_of_function,-1.58855674911218,0.7771999306095833,0.0418089734887561,Benign,0.2767,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333C,NP_000240:p.Lys333Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.20788,-0.01735,0.7198306108001212,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0997,2.3356,-6.9307,loss_of_function,-2.12684745451606,0.7107474209301166,0.2469107872831517,Benign,0.3195,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333D,NP_000240:p.Lys333Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.94358,1.4415,1.496726372441027,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.1487,2.3356,-8.9306,loss_of_function,-3.2602731554349,0.5708249188227215,0.7221698472741066,Pathogenic,0.7739,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333E,NP_000240:p.Lys333Glu,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",0.86757,0.57585,1.2336878999412977,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,648297,Uncertain significance,2,91.29,H,-0.0437,2.3356,-4.8433,loss_of_function,-2.05759442223218,0.7192967749352616,0.0413378300087145,Benign,0.1834,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333F,NP_000240:p.Lys333Phe,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.54446,0.62449,-0.5977784469713743,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.29,H,-0.1006,2.3356,-6.9307,loss_of_function,-2.64155781211507,0.6472059280581435,0.7317391468627981,Pathogenic,0.7148,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333G,NP_000240:p.Lys333Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.10453,1.81361,1.632255657922738,Uncertain,Uncertain,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0908,2.3356,-7.3457,loss_of_function,-3.00754858408233,0.6020240122780786,0.4779808921287053,Uncertain,0.4382,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333H,NP_000240:p.Lys333His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.97973,-0.27891,-0.0040938472197904,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0447,2.3356,-7.9307,loss_of_function,-2.67950364134511,0.6425214786353866,0.1946590132456666,Benign,0.2112,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333I,NP_000240:p.Lys333Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.45478,0.17177,-0.2233801824988179,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.29,H,-0.0699,2.3356,-7.3457,loss_of_function,-2.16756811652683,0.7057204157092207,0.3662070912261377,Uncertain,0.2662,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333L,NP_000240:p.Lys333Leu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.43331,-0.79966,-0.3771198381485086,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,91.29,H,-0.0563,2.3356,-4.9307,loss_of_function,-1.87887890233299,0.7413593792060545,0.0326744331874516,Benign,0.2601,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333M,NP_000240:p.Lys333Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.14503,-0.21122,0.0203137477190512,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0447,2.3356,-7.9307,loss_of_function,-2.68390159418723,0.6419785470913772,0.3867828329601898,Uncertain,0.1891,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333N,NP_000240:p.Lys333Asn,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",1.25027,0.31769,0.664206462659524,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1714990,Uncertain significance,1,91.29,H,-0.0477,2.3356,-6.9307,loss_of_function,-2.52458681096834,0.661646111601881,0.4975954661657378,Uncertain,0.4842,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333P,NP_000240:p.Lys333Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.49709,8.08503,5.352062034256509,Destabilizing,Destabilizing,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.2818,2.3356,-22.2185,loss_of_function,-4.5498924894371,0.41162016121631073,0.813264607996121,Pathogenic,0.9599,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333Q,NP_000240:p.Lys333Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.30975,-0.10612,0.5553384847676875,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0172,2.3356,-4.6828,loss_of_function,-0.583846886712836,0.9012323376080542,0.0239390162560133,Benign,0.0872,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333R,NP_000240:p.Lys333Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",-0.15841,-0.12449,-0.0250317053708826,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,486848,Uncertain significance,1,91.29,H,0.0563,2.3356,-3.1234,gain_of_function,-0.0985803393217921,0.961138963551799,0.0048015069662423,Benign,0.0718,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333S,NP_000240:p.Lys333Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.95174,0.79252,1.006649200482579,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0322,2.3356,-5.4713,loss_of_function,-1.29065257423957,0.8139764899399591,0.1040939045180538,Benign,0.3529,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333T,NP_000240:p.Lys333Thr,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",2.3277,0.62245,0.5490665237007155,Uncertain,Uncertain,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1768810,Uncertain significance,1,91.29,H,-0.0404,2.3356,-4.7608,loss_of_function,-0.902472525664051,0.8618976934390723,0.0299393760681235,Benign,0.1458,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333V,NP_000240:p.Lys333Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.17551,-0.70748,-0.3423777616450829,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,91.29,H,-0.0415,2.3356,-4.9307,loss_of_function,-2.1414054105092,0.7089502271427529,0.0643998723832467,Benign,0.2186,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333W,NP_000240:p.Lys333Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.08026,-1.02687,-0.7189861092585714,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.29,H,-0.1876,2.3356,-22.2185,loss_of_function,-3.68745251266569,0.5180892128440189,0.9094553672036212,Pathogenic,0.6933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K333Y,NP_000240:p.Lys333Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",-0.06412,0.68333,-0.4799698198071739,Neutral,Neutral,False,0.05,,,,,,,Uncertain,Uncertain,Uncertain,40.5,,False,40.5,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,91.29,H,-0.0957,2.3356,-8.9306,loss_of_function,-2.84745874386163,0.621787258327197,0.6234774694205157,Uncertain,0.5599,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334A,NP_000240:p.Leu334Ala,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.50143,3.73231,3.495523283261953,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.3999,0.2118,-22.2214,loss_of_function,-6.93263785815058,0.11746793438316332,0.9714315210299078,Pathogenic,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334C,NP_000240:p.Leu334Cys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.95331,3.2898,3.603825623560134,Uncertain,Uncertain,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.3891,0.2118,-22.2214,loss_of_function,-6.0243993413183,0.2295908602021729,0.967485556160074,Pathogenic,0.9878,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334D,NP_000240:p.Leu334Asp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.3047,5.66327,4.393790142751909,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.5214,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9909665472124594,Pathogenic,0.9998,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334E,NP_000240:p.Leu334Glu,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.15213,5.7085,3.912549307736444,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4895,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9893481902887726,Pathogenic,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334F,NP_000240:p.Leu334Phe,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",6.06619,3.14388,2.3025197978756253,Destabilizing,Uncertain,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,928359,Uncertain significance,2,89.9,H,-0.2554,0.2118,-6.9337,loss_of_function,-5.24147783987852,0.3262432789238627,0.7819768149812806,Pathogenic,0.9076,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334G,NP_000240:p.Leu334Gly,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",5.2798,6.00952,5.456115204612885,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4748,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.989622665102285,Pathogenic,0.9969,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334H,NP_000240:p.Leu334His,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.28993,4.38878,3.166909080304967,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4423,0.2118,-22.2214,loss_of_function,-6.94254991964098,0.1162442807782955,0.9845502533157524,Pathogenic,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334I,NP_000240:p.Leu334Ile,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.14473,1.72517,1.147706393591517,Neutral,Neutral,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.9,H,-0.196,0.2118,-6.9337,loss_of_function,-2.99803003230613,0.6031990867270566,0.5975654021748235,Uncertain,0.5537,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334K,NP_000240:p.Leu334Lys,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",4.25588,7.9102,5.351803752342256,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.9,H,-0.4885,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9917761951602476,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334M,NP_000240:p.Leu334Met,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",0.41246,2.04932,1.3868203409819102,Uncertain,Neutral,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,89.9,H,-0.2973,0.2118,-22.2214,loss_of_function,-3.78250785664424,0.5063545384340638,0.7049034741803678,Pathogenic,0.6661,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334N,NP_000240:p.Leu334Asn,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.10436,3.94184,3.299579848820542,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4677,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9899123772557464,Pathogenic,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334P,NP_000240:p.Leu334Pro,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",7.66493,13.61735,8.48175966444415,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4155,0.2118,-8.9336,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9883831120305858,Pathogenic,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334Q,NP_000240:p.Leu334Gln,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",2.27671,3.31565,3.1449627406121348,Uncertain,Uncertain,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4207,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.9909520680076924,Pathogenic,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334R,NP_000240:p.Leu334Arg,,,,,"saturation,clinvar","DNA mismatch repair protein, C-terminal domain (PF01119)",7.34436,8.90034,4.434362457754626,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,2012922,Uncertain significance,1,89.9,H,-0.4801,0.2118,-22.2214,loss_of_function,-7.84700534416904,0.0045883813735277425,0.99065402632774,Pathogenic,0.991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334S,NP_000240:p.Leu334Ser,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.82732,4.8551,4.350119527611158,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.4303,0.2118,-22.2214,loss_of_function,-7.08265183762011,0.09894856311652643,0.9877381365641712,Pathogenic,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334T,NP_000240:p.Leu334Thr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",3.58588,3.76633,3.2138929014676925,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.403,0.2118,-22.2214,loss_of_function,-7.08265183762011,0.09894856311652643,0.9845620373941242,Pathogenic,0.9922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334V,NP_000240:p.Leu334Val,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",1.61293,2.47313,1.6771960325346795,Uncertain,Neutral,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,89.9,H,-0.2344,0.2118,-7.3487,loss_of_function,-3.4003420942284,0.5535332724734057,0.8532410031138176,Pathogenic,0.7169,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334W,NP_000240:p.Leu334Trp,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",14.41838,5.34728,3.7041718413309126,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.9,H,-0.4325,0.2118,-22.2214,loss_of_function,-6.94254991964098,0.1162442807782955,0.9559708759736452,Pathogenic,0.9853,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L334Y,NP_000240:p.Leu334Tyr,,,,,saturation,"DNA mismatch repair protein, C-terminal domain (PF01119)",9.98685,5.13435,3.5329676012529614,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,0.6,,False,0.6,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,89.9,H,-0.4254,0.2118,-22.2214,loss_of_function,-5.70893785829253,0.26853488625318966,0.9599725045635786,Pathogenic,0.9871,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335A,NP_000240:p.Leu335Ala,,,,,saturation,,0.73325,0.14864,1.1082933774533663,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.1168,2.1807,-2.2333,loss_of_function,-1.83024582117609,0.7473631802449306,0.0382489831383717,Benign,0.4843,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335C,NP_000240:p.Leu335Cys,,,,,saturation,,1.26918,0.86088,1.651443981003396,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.208,2.1807,-22.2214,loss_of_function,-3.87281155542156,0.4952064592329023,0.9536267314940288,Pathogenic,0.8112,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335D,NP_000240:p.Leu335Asp,,,,,saturation,,0.66975,1.1881,1.0105058364725186,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.3403,2.1807,-22.2214,loss_of_function,-3.96469131494238,0.48386381380430754,0.7241615458360833,Pathogenic,0.9725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335E,NP_000240:p.Leu335Glu,,,,,saturation,,0.28448,0.14252,0.8795706697755007,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.2223,2.1807,-5.3487,loss_of_function,-3.09951434543222,0.5906707498402705,0.2149159299218655,Benign,0.8385,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335F,NP_000240:p.Leu335Phe,,,,,saturation,,-0.13275,0.64864,0.4031932797681636,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.08,H,-0.0844,2.1807,-8.9336,loss_of_function,-3.94842595398202,0.48587178839091566,0.6416203548925756,Uncertain,0.5395,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335G,NP_000240:p.Leu335Gly,,,,,saturation,,1.40186,1.25952,1.7210443075355597,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.2069,2.1807,-5.2332,loss_of_function,-2.54464348528007,0.6591700957047867,0.2407325805626052,Benign,0.8285,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335H,NP_000240:p.Leu335His,,,,,saturation,,0.75021,0.1381,0.6402099208978718,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.2611,2.1807,-22.2214,loss_of_function,-4.09251624537912,0.4680837021623066,0.8137728085589633,Pathogenic,0.6784,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335I,NP_000240:p.Leu335Ile,,,,,saturation,,0.10029,0.27789,0.3615976112794233,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.08,H,-0.0089,2.1807,-5.7638,loss_of_function,-1.86969816749903,0.7424927498258586,0.2567749547324526,Benign,0.2638,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335K,NP_000240:p.Leu335Lys,,,,,saturation,,0.30677,0.23333,0.7339919825555768,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.08,H,-0.2213,2.1807,-5.3487,loss_of_function,-2.26016486857773,0.6942892568573643,0.1541668472497006,Benign,0.7262,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335M,NP_000240:p.Leu335Met,,,,,saturation,,0.34587,0.65646,0.5189707992995776,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,87.08,H,-0.0433,2.1807,-7.9336,loss_of_function,-2.868930930804,0.6191364960229201,0.2505350179604155,Benign,0.2638,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335N,NP_000240:p.Leu335Asn,,,,,saturation,,1.14022,0.91565,0.786121626481647,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.2866,2.1807,-22.2214,loss_of_function,-3.5812872375048,0.5311954190341461,0.7263215304597457,Pathogenic,0.869,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335P,NP_000240:p.Leu335Pro,,,,,"saturation,clinvar",,5.30969,7.27721,6.494302658817321,Destabilizing,Destabilizing,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,1779419,Uncertain significance,1,87.08,H,-0.3022,2.1807,-22.2214,loss_of_function,-6.0111484258352,0.23122669857085099,0.9711213486472602,Pathogenic,0.9612,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335Q,NP_000240:p.Leu335Gln,,,,,saturation,,0.19252,0.10136,0.9818686226138668,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.1615,2.1807,-6.9337,loss_of_function,-3.09880218522919,0.590758666708071,0.7638337281478875,Pathogenic,0.4806,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335R,NP_000240:p.Leu335Arg,,,,,saturation,,0.35686,-0.15986,0.4551937312603027,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.08,H,-0.2168,2.1807,-6.1263,loss_of_function,-2.72203026537836,0.6372715256511823,0.2838458278541714,Benign,0.4923,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335S,NP_000240:p.Leu335Ser,,,,,saturation,,0.92962,0.74116,1.2920749288061435,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.1558,2.1807,-3.9337,loss_of_function,-1.86214135532471,0.7434256456182597,0.0971969461025957,Benign,0.6388,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335T,NP_000240:p.Leu335Thr,,,,,saturation,,1.01436,0.57449,1.2247329874092303,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.1364,2.1807,-5.4743,loss_of_function,-1.90832625427039,0.7377240750478924,0.1849452056344779,Benign,0.5352,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335V,NP_000240:p.Leu335Val,,,,,saturation,,0.77911,0.37551,0.6085469605385226,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,87.08,H,-0.0419,2.1807,-5.1263,loss_of_function,-2.21129154684005,0.7003227158289512,0.1562105161938233,Benign,0.2806,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335W,NP_000240:p.Leu335Trp,,,,,saturation,,0.76273,-0.42347,0.1472307951355461,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.08,H,-0.2514,2.1807,-22.2214,loss_of_function,-4.75669284553002,0.38609045667743885,0.9494142700881956,Pathogenic,0.7062,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L335Y,NP_000240:p.Leu335Tyr,,,,,saturation,,0.1585,0.04524,0.5625306317276413,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,60.2,,False,60.2,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,87.08,H,-0.2443,2.1807,-22.2214,loss_of_function,-4.75669284553002,0.38609045667743885,0.8670126119085522,Pathogenic,0.8403,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336A,NP_000240:p.Gly336Ala,,,,,"saturation,clinvar",,-0.79406,-0.62279,-0.5531145523478587,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,573568,Uncertain significance,2,79.98,H,-0.0988,2.0737,-3.8044,loss_of_function,-0.872636293334653,0.8655810052588084,0.1171546915302951,Benign,0.2753,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336C,NP_000240:p.Gly336Cys,,,,,saturation,,-0.12372,0.00408,0.1957511457924471,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2525,2.0737,-22.2214,loss_of_function,-2.70871448608477,0.638915371520178,0.8972549783390339,Pathogenic,0.4489,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336D,NP_000240:p.Gly336Asp,"hg38,3:g.37020432G>A",,1.19384928847e-05,0.809,"COSMIC,saturation,clinvar",,0.0937,-0.18571,-0.3256856924884066,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,141442,Conflicting classifications of pathogenicity,1,79.98,H,-0.1632,2.0737,-4.6118,loss_of_function,-1.73837048433589,0.7587052796893132,0.0366037688291759,Benign,0.5749,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336E,NP_000240:p.Gly336Glu,,,,,saturation,,-0.38444,-0.55,-0.538655514213795,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1702,2.0737,-6.1263,loss_of_function,-2.19610387222018,0.7021976489915595,0.4190503582813595,Uncertain,0.6362,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336F,NP_000240:p.Gly336Phe,,,,,saturation,,-0.76915,-0.45034,-0.7481532715444594,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2906,2.0737,-22.2214,loss_of_function,-4.81487029783415,0.3789083937631884,0.8390956168963823,Pathogenic,0.8797,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336H,NP_000240:p.Gly336His,,,,,saturation,,-0.81757,-0.55646,-0.7007669794304155,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1975,2.0737,-8.9336,loss_of_function,-3.90742458686329,0.49093344692964974,0.5219517173091955,Uncertain,0.7437,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336I,NP_000240:p.Gly336Ile,,,,,saturation,,-0.60887,-0.89626,-0.6478467402478938,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2685,2.0737,-8.9336,loss_of_function,-3.72750069401188,0.513145226013416,0.7398190645018221,Pathogenic,0.7274,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336K,NP_000240:p.Gly336Lys,,,,,saturation,,-0.97445,-0.49252,-0.762335345740176,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1909,2.0737,-3.7242,loss_of_function,-2.65905379993702,0.6450460313918661,0.1338225238151932,Benign,0.8321,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336L,NP_000240:p.Gly336Leu,,,,,saturation,,-0.82554,-0.73367,-1.094680167293831,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2367,2.0737,-8.9336,loss_of_function,-3.87082949373005,0.4954511466711548,0.7820423333944556,Pathogenic,0.7572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336M,NP_000240:p.Gly336Met,,,,,saturation,,-0.97986,-0.71735,-0.66402719028338,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2427,2.0737,-22.2214,loss_of_function,-3.86808053748362,0.49579050798603624,0.8123599358862446,Pathogenic,0.8309,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336N,NP_000240:p.Gly336Asn,,,,,saturation,,-0.78593,-0.46224,-0.4205118777999067,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1625,2.0737,-4.4101,loss_of_function,-2.11731497601013,0.7119242146473875,0.0626325185887853,Benign,0.562,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336P,NP_000240:p.Gly336Pro,,,,,saturation,,2.28055,4.06565,5.944209314661351,Uncertain,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.3504,2.0737,-22.2214,loss_of_function,-4.90115012052731,0.36825706596744273,0.7929222561188297,Pathogenic,0.9834,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336Q,NP_000240:p.Gly336Gln,,,,,saturation,,-0.96058,-0.69354,-0.4273766849601096,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1723,2.0737,-5.7638,loss_of_function,-2.47779818142667,0.6674222132998919,0.3814106876513935,Uncertain,0.6675,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336R,NP_000240:p.Gly336Arg,,,,,saturation,,-1.47534,-0.10408,-0.959458806674785,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2015,2.0737,-8.9336,loss_of_function,-2.65702581448058,0.6452963881634414,0.4762172262120785,Uncertain,0.7095,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336S,NP_000240:p.Gly336Ser,,,,,saturation,,-0.74984,-0.40748,-0.0935626395935035,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1041,2.0737,-3.6858,loss_of_function,-0.806272609642172,0.8737736663779164,0.0189375578967329,Benign,0.1889,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336T,NP_000240:p.Gly336Thr,,,,,saturation,,-0.65542,-0.58844,-0.3096990906412955,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1959,2.0737,-6.6117,loss_of_function,-2.69058577055875,0.6411533790352162,0.5049661430360229,Uncertain,0.4331,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336V,NP_000240:p.Gly336Val,,,,,saturation,,-0.12268,-0.74048,-0.5078683162463082,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.1985,2.0737,-6.3487,loss_of_function,-3.2362446040503,0.5737912667968531,0.5080089151187965,Uncertain,0.5558,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336W,NP_000240:p.Gly336Trp,,,,,saturation,,-0.94884,-0.8517,-1.250351841095989,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.2904,2.0737,-22.2214,loss_of_function,-4.81487029783415,0.3789083937631884,0.9654578574309411,Pathogenic,0.8517,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +G336Y,NP_000240:p.Gly336Tyr,,,,,saturation,,-0.71015,-0.58707,-0.7029050677805876,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,112.9,,False,112.9,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,79.98,H,-0.291,2.0737,-22.2214,loss_of_function,-3.84851799964592,0.4982055222561401,0.8898672613818901,Pathogenic,0.8248,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337A,NP_000240:p.Ser337Ala,,,,,saturation,,0.38279,0.00612,-0.5369574780902181,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,-,uncertain,uncertain,neutral,,,,69.91,H,0.0504,2.5187,-2.8074,gain_of_function,-0.104238813626772,0.9604404194105983,0.0006019192078101,Benign,0.0691,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337C,NP_000240:p.Ser337Cys,,,,,"saturation,clinvar",,-0.03941,1.01565,0.0636273919195923,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,186715,Uncertain significance,2,69.91,H,-0.0061,2.5187,-3.9824,loss_of_function,-1.01267250107623,0.8482933995895988,0.0005464280875031,Benign,0.078,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337D,NP_000240:p.Ser337Asp,,,,,saturation,,1.8695,1.89388,-0.1455647865585496,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0795,2.5187,-8.9365,loss_of_function,-2.76057356561625,0.6325133178530088,0.4674871660470764,Uncertain,0.8731,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337E,NP_000240:p.Ser337Glu,,,,,saturation,,1.2478,1.1017,-0.2159153704053229,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0527,2.5187,-8.9365,loss_of_function,-2.40388663438381,0.6765466654704061,0.2547012397234344,Benign,0.8888,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337F,NP_000240:p.Ser337Phe,,,,,saturation,,-1.08181,0.12619,-1.0100319631907833,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0538,2.5187,-7.9366,loss_of_function,-1.59798335189232,0.7760362073533518,0.3554397131592022,Uncertain,0.4084,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337G,NP_000240:p.Ser337Gly,,,,,saturation,,0.66202,1.7568,0.4618641214019081,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,DOWN,neutral,neutral,neutral,,,,69.91,H,0.0243,2.5187,-6.1293,gain_of_function,-2.72609097917376,0.6367702265945843,0.0472905908442909,Benign,0.148,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337H,NP_000240:p.Ser337His,,,,,saturation,,0.84163,0.63912,-0.8548542728111136,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0601,2.5187,-8.9365,loss_of_function,-3.32129753870515,0.5632913995194165,0.4043193939080728,Uncertain,0.737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337I,NP_000240:p.Ser337Ile,,,,,saturation,,0.19717,1.12551,-0.6270248976602905,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0467,2.5187,-5.9366,loss_of_function,-2.12729883471852,0.7106916976063216,0.1586454358559075,Benign,0.4076,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337K,NP_000240:p.Ser337Lys,,,,,saturation,,-0.67157,1.08333,-0.3747114850429567,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0576,2.5187,-6.6147,loss_of_function,-2.84277544315851,0.6223654163414104,0.2061436762371198,Benign,0.9549,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337L,NP_000240:p.Ser337Leu,,,,,saturation,,-0.80284,0.6517,-1.057313151400162,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0481,2.5187,-6.9366,loss_of_function,-2.2158103040201,0.6997648708722541,0.1564466091697839,Benign,0.1596,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337M,NP_000240:p.Ser337Met,,,,,saturation,,-0.44944,0.4534,-0.7064837898505499,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0293,2.5187,-8.9365,loss_of_function,-2.4991141425198,0.6647907372282299,0.3805198549998196,Uncertain,0.3139,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337N,NP_000240:p.Ser337Asn,,,,,saturation,,-0.44959,1.09524,-0.4756214640443196,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,0.0196,2.5187,-4.4772,gain_of_function,-2.01147571498435,0.7249901740763287,0.0174683448882244,Benign,0.4383,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337P,NP_000240:p.Ser337Pro,,,,,"saturation,clinvar",,1.77876,7.18129,4.785304192485598,Uncertain,Uncertain,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,1795627,Uncertain significance,1,69.91,H,-0.2021,2.5187,-22.2244,loss_of_function,-4.17164998757271,0.4583145649353385,0.4650444248810097,Uncertain,0.8006,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337Q,NP_000240:p.Ser337Gln,,,,,saturation,,-0.02133,0.96939,-0.2972201886323206,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,0.0025,2.5187,-3.9824,gain_of_function,-2.44689612584768,0.6712371020335502,0.337193557721727,Uncertain,0.8181,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337R,NP_000240:p.Ser337Arg,,,,,saturation,,-0.15535,1.54796,-0.7690364969716945,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0696,2.5187,-7.9366,loss_of_function,-2.94631301556452,0.609583602605027,0.2468032658551607,Benign,0.922,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337T,NP_000240:p.Ser337Thr,,,,,saturation,,1.2157,0.04966,-0.2040013506279042,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,neutral,,,UP,neutral,neutral,neutral,,,,69.91,H,0.0387,2.5187,-6.9366,gain_of_function,-0.657184190789196,0.8921787762887227,0.0553493986004051,Benign,0.129,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337V,NP_000240:p.Ser337Val,,,,,saturation,,1.00845,0.32347,-0.6938229858148737,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.0051,2.5187,-2.8281,loss_of_function,-2.21157334857269,0.7002879271317324,0.0251749645320184,Benign,0.2819,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337W,NP_000240:p.Ser337Trp,,,,,saturation,,-0.32673,0.5551,-1.2829179705051683,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,,,,69.91,H,-0.1364,2.5187,-22.2244,loss_of_function,-4.07661506564818,0.4700467182229173,0.8280929078327459,Pathogenic,0.656,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S337Y,NP_000240:p.Ser337Tyr,,,,,"saturation,clinvar",,-1.18745,0.07143,-0.9360009817322978,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,37.6,,False,37.6,,uncertain,,,UP,neutral,neutral,neutral,2566514,Uncertain significance,1,69.91,H,-0.1315,2.5187,-22.2244,loss_of_function,-3.53724583148946,0.5366323733232525,0.4399984516839785,Uncertain,0.4349,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338A,NP_000240:p.Asn338Ala,,,,,saturation,,0.55726,0.23367,0.7932314923150585,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,57.36,G,-0.1107,1.5457,-7.3487,loss_of_function,-3.20642945250021,0.577471976173937,0.858267759529151,Pathogenic,0.6017,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338C,NP_000240:p.Asn338Cys,,,,,saturation,,0.68497,1.06395,1.1752640184745622,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,57.36,G,-0.2365,1.5457,-22.2214,loss_of_function,-4.54929330647004,0.41169413093475205,0.9762598281632248,Pathogenic,0.6161,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338D,NP_000240:p.Asn338Asp,,,,,"saturation,clinvar",,1.92244,-0.09898,0.860434523056845,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,2676579,Uncertain significance,1,57.36,G,-0.089,1.5457,-2.4743,loss_of_function,-1.64967625513948,0.7696546683096593,0.0225569522276397,Benign,0.4744,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338E,NP_000240:p.Asn338Glu,,,,,saturation,,1.21211,0.86293,0.801503829779589,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.2169,1.5457,-22.2214,loss_of_function,-2.67878493228901,0.6426102039654503,0.8778452180849907,Pathogenic,0.9228,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338F,NP_000240:p.Asn338Phe,,,,,saturation,,0.93618,0.65272,-0.2304629849982975,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.2437,1.5457,-22.2214,loss_of_function,-4.52945731297299,0.4141429035712321,0.9342592959935414,Pathogenic,0.935,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338G,NP_000240:p.Asn338Gly,,,,,saturation,,1.46072,1.75034,1.3871887655227055,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,,,,57.36,G,-0.1292,1.5457,-4.9337,loss_of_function,-3.4821267558419,0.5434368766728775,0.7746849402622646,Pathogenic,0.5107,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338H,NP_000240:p.Asn338His,,,,,"saturation,clinvar",,1.43322,0.20612,-0.0215918698082434,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,640508,Uncertain significance,2,57.36,G,-0.1916,1.5457,-22.2214,loss_of_function,-5.59163188428181,0.2830164225218827,0.9223654258167407,Pathogenic,0.4408,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338I,NP_000240:p.Asn338Ile,,,,,"saturation,clinvar",,0.97484,1.60646,0.2060541210094058,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,1404939,Uncertain significance,2,57.36,G,-0.1639,1.5457,-7.9336,loss_of_function,-4.58283328347607,0.4075535882423605,0.7625739369554096,Pathogenic,0.758,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338K,NP_000240:p.Asn338Lys,,,,,"saturation,clinvar",,0.02602,0.67007,0.8195297580470756,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,3230741,Uncertain significance,1,57.36,G,-0.122,1.5457,-8.9336,loss_of_function,-4.3315719145856,0.4385720479345862,0.8214104510713223,Pathogenic,0.9369,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338L,NP_000240:p.Asn338Leu,,,,,saturation,,-0.71101,-0.04116,-0.5852488706337194,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.1755,1.5457,-8.9336,loss_of_function,-4.75784464376361,0.3859482660683534,0.8451306723484893,Pathogenic,0.6703,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338M,NP_000240:p.Asn338Met,,,,,saturation,,-0.86953,0.50034,-0.2188210502275417,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.1974,1.5457,-22.2214,loss_of_function,-4.24325809077453,0.44947447514115035,0.9045517171982512,Pathogenic,0.8236,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338P,NP_000240:p.Asn338Pro,,,,,saturation,,6.75432,12.35714,4.156582802579536,Destabilizing,Destabilizing,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,57.36,G,-0.3522,1.5457,-22.2214,loss_of_function,-5.57733297036487,0.28478163731368994,0.8624569469224652,Pathogenic,0.8556,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338Q,NP_000240:p.Asn338Gln,,,,,saturation,,0.71788,0.90782,0.4698738436887839,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.1047,1.5457,-7.3487,loss_of_function,-2.9217198464743,0.6126196531825499,0.6904049953910305,Pathogenic,0.8628,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338R,NP_000240:p.Asn338Arg,,,,,saturation,,0.38568,0.85816,0.2328053290701576,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.1541,1.5457,-8.9336,loss_of_function,-3.97208527517096,0.48295102224256087,0.8594722076517001,Pathogenic,0.9091,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338S,NP_000240:p.Asn338Ser,,,,,"saturation,clinvar",,0.53761,0.45306,1.1370556021697404,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,DOWN,neutral,neutral,neutral,89605,Conflicting classifications of pathogenicity,1,57.36,G,-0.061,1.5457,-3.5074,loss_of_function,-0.959198924139442,0.8548947645273817,0.081347073078221,Benign,0.1036,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338T,NP_000240:p.Asn338Thr,,,,,saturation,,1.80807,1.24252,0.831441266535475,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,57.36,G,-0.1332,1.5457,-7.9336,loss_of_function,-3.2119750003029,0.5767873729189733,0.8526052279796378,Pathogenic,0.3764,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338V,NP_000240:p.Asn338Val,,,,,saturation,,1.74201,1.07177,0.4281908213202934,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.1573,1.5457,-7.9336,loss_of_function,-4.5713946716773,0.4089656959634238,0.8784219517546313,Pathogenic,0.6197,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338W,NP_000240:p.Asn338Trp,,,,,saturation,,1.438,0.38401,-0.5582430695544038,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.2488,1.5457,-22.2214,loss_of_function,-5.59163188428181,0.2830164225218827,0.991730203643377,Pathogenic,0.9844,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N338Y,NP_000240:p.Asn338Tyr,,,,,saturation,,0.61136,0.58231,-0.0176818046271209,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,30.8,,False,30.8,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,57.36,G,-0.2273,1.5457,-22.2214,loss_of_function,-5.59163188428181,0.2830164225218827,0.9547676120598853,Pathogenic,0.6673,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339A,NP_000240:p.Ser339Ala,,,,,"saturation,clinvar",,-0.03453,0.38027,0.2104412508000308,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,-,uncertain,uncertain,neutral,2773565,Uncertain significance,1,49.45,G,0.0434,2.4643,-3.2058,gain_of_function,-0.0955750482332704,0.9615099696515602,0.0012417774390397,Benign,0.0719,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339C,NP_000240:p.Ser339Cys,,,,,saturation,,0.21351,0.92517,0.7061090636889583,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0363,2.4643,-8.9336,loss_of_function,-2.6998792221175,0.6400060934264108,0.3015369480703392,Benign,0.1154,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339D,NP_000240:p.Ser339Asp,,,,,saturation,,0.41087,1.04524,0.0237175362964153,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0743,2.4643,-6.9337,loss_of_function,-2.06696610211932,0.7181398319634416,0.0241550655269326,Benign,0.6286,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339E,NP_000240:p.Ser339Glu,,,,,saturation,,0.32413,0.66973,0.036459520606768,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0327,2.4643,-4.0268,loss_of_function,-1.81000301901229,0.7498621738058916,0.0035134013546523,Benign,0.6725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339F,NP_000240:p.Ser339Phe,"hg19,3:g.37061932C>T, hg38,3:g.37020441C>T",,,0.846,"cBioPortal,COSMIC,saturation,clinvar",,0.17423,0.84116,0.005185076749497,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,1337030,Uncertain significance,1,49.45,G,-0.0639,2.4643,-8.9336,loss_of_function,-1.76803225308353,0.7550435055679605,0.1507774269736801,Benign,0.3146,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339G,NP_000240:p.Ser339Gly,,,,,saturation,,0.1568,0.91122,0.5148017190999438,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,DOWN,neutral,neutral,neutral,,,,49.45,G,0.0182,2.4643,-6.3487,gain_of_function,-2.39936700124175,0.6771046185654628,0.2146312769817491,Benign,0.156,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339H,NP_000240:p.Ser339His,,,,,saturation,,-0.7585,0.62959,-0.2063672513098952,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0519,2.4643,-6.3487,loss_of_function,-2.48899531068994,0.6660399168320541,0.0221024741666921,Benign,0.4744,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339I,NP_000240:p.Ser339Ile,,,,,saturation,,0.27212,1.16973,0.0291011051798717,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.1348,2.4643,-22.2214,loss_of_function,-3.1338092091075,0.5864370156563825,0.1885885342425901,Benign,0.2884,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339K,NP_000240:p.Ser339Lys,,,,,saturation,,-1.11833,0.22857,-0.0186766202387944,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0568,2.4643,-5.4743,loss_of_function,-2.24445142133374,0.696229097160376,0.0247841543837261,Benign,0.8118,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339L,NP_000240:p.Ser339Leu,,,,,saturation,,0.12453,0.35986,-0.2670337673053119,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0531,2.4643,-6.9337,loss_of_function,-2.36334124611352,0.6815520329780386,0.2209949415719005,Benign,0.1355,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339M,NP_000240:p.Ser339Met,,,,,saturation,,0.20899,0.62109,0.0242787956057083,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.1021,2.4643,-22.2214,loss_of_function,-2.72540926746115,0.6368543845667098,0.1421249308081985,Benign,0.271,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339N,NP_000240:p.Ser339Asn,,,,,saturation,,-0.28402,0.45748,-0.0207491381177132,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,0.0113,2.4643,-5.1263,gain_of_function,-1.59334030731722,0.7766093957095161,0.0070893776730725,Benign,0.2472,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339P,NP_000240:p.Ser339Pro,,,,,saturation,,-0.48026,6.32789,2.500910992736991,Uncertain,Uncertain,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.2071,2.4643,-22.2214,loss_of_function,-3.51773821719963,0.5390406072281005,0.2331464657223443,Benign,0.6847,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339Q,NP_000240:p.Ser339Gln,,,,,saturation,,-0.42983,0.49184,0.1956598868768522,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.003,2.4643,-4.0757,loss_of_function,-1.62754422822956,0.7723868884979201,0.0286384302892675,Benign,0.6111,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339R,NP_000240:p.Ser339Arg,,,,,saturation,,-1.19145,0.30578,-0.1659805532422736,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0746,2.4643,-7.9336,loss_of_function,-2.76938338477493,0.6314257371330756,0.214215773614688,Benign,0.7535,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339T,NP_000240:p.Ser339Thr,,,,,saturation,,0.08656,0.21463,0.1369223976223182,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,neutral,,,UP,neutral,neutral,neutral,,,,49.45,G,0.0556,2.4643,-2.6483,gain_of_function,-0.418782137921868,0.921609740945421,0.0003433780368598,Benign,0.0804,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339V,NP_000240:p.Ser339Val,,,,,saturation,,0.55572,1.23027,0.1094362215599953,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0281,2.4643,-6.3487,loss_of_function,-2.02107330154917,0.7238053427060384,0.0128029691109938,Benign,0.2151,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339W,NP_000240:p.Ser339Trp,,,,,saturation,,0.36665,1.11395,-0.4082072527349778,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.1414,2.4643,-22.2214,loss_of_function,-3.58241932453178,0.5310556617926349,0.5622738893150232,Uncertain,0.5891,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S339Y,NP_000240:p.Ser339Tyr,,,,,saturation,,0.21254,0.64286,0.0231268288749492,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,102.4,,False,102.4,,uncertain,,,UP,neutral,neutral,neutral,,,,49.45,G,-0.0687,2.4643,-8.9336,loss_of_function,-3.18985412774271,0.5795182160919412,0.161879236597861,Benign,0.3051,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340A,NP_000240:p.Ser340Ala,,,,,saturation,,0.28987,0.30136,0.2950106681537207,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,-,uncertain,uncertain,neutral,,,,47.27,G,-0.1608,0.4738,-7.3398,loss_of_function,-2.70189125563178,0.6397577059375673,0.2622986011533792,Benign,0.3209,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340C,NP_000240:p.Ser340Cys,,,,,saturation,,0.08015,0.75034,0.634535881838231,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2872,0.4738,-22.2125,loss_of_function,-2.72938730888187,0.6363632914949515,0.9079645701667164,Pathogenic,0.5805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340D,NP_000240:p.Ser340Asp,,,,,saturation,,0.1312,0.40476,-0.1225035308594085,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3354,0.4738,-22.2125,loss_of_function,-4.42909142183682,0.4265331701785859,0.962961936936497,Pathogenic,0.9877,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340E,NP_000240:p.Ser340Glu,,,,,saturation,,0.2898,0.23095,0.0133057933159291,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2327,0.4738,-7.3398,loss_of_function,-4.36613791226376,0.43430484199506536,0.9105708046625252,Pathogenic,0.9808,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340F,NP_000240:p.Ser340Phe,"hg19,3:g.37061935C>T",,3.980860025e-06,0.823,"cBioPortal,saturation,clinvar",,-0.07638,0.30034,-0.2701525736792337,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,1372819,Uncertain significance,2,47.27,G,-0.3148,0.4738,-22.2125,loss_of_function,-6.0838353073287,0.22225343255022945,0.9561586700546014,Pathogenic,0.9284,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340G,NP_000240:p.Ser340Gly,,,,,saturation,,0.0136,0.71531,0.4050626497656201,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,DOWN,neutral,neutral,neutral,,,,47.27,G,-0.2459,0.4738,-22.2125,loss_of_function,-5.13793847377577,0.3390253140938485,0.9067099590140046,Pathogenic,0.5758,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340H,NP_000240:p.Ser340His,,,,,saturation,,-0.06776,0.11599,-0.3842149446600973,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2431,0.4738,-7.9247,loss_of_function,-4.46477837679183,0.4221275809760022,0.9366286586080672,Pathogenic,0.9498,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340I,NP_000240:p.Ser340Ile,,,,,saturation,,0.13397,0.63878,0.4222273911685414,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3179,0.4738,-22.2125,loss_of_function,-4.57793613647265,0.4081581457897593,0.916739880723091,Pathogenic,0.9235,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340K,NP_000240:p.Ser340Lys,,,,,saturation,,-0.29483,0.13197,-0.1901805055603073,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3253,0.4738,-22.2125,loss_of_function,-5.4890109591576,0.29568507526225607,0.9509981668115536,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340L,NP_000240:p.Ser340Leu,,,,,saturation,,0.08876,-0.09626,-0.4814615726103793,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3142,0.4738,-22.2125,loss_of_function,-4.1793181008047,0.4573679289194153,0.8310685408452851,Pathogenic,0.6387,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340M,NP_000240:p.Ser340Met,,,,,saturation,,-0.1031,0.13163,-0.1224824525555928,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2852,0.4738,-22.2125,loss_of_function,-4.38718873834359,0.4317060970979542,0.9366084816117268,Pathogenic,0.8102,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340N,NP_000240:p.Ser340Asn,,,,,saturation,,-0.11158,-0.04354,-0.3564465587601229,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.259,0.4738,-22.2125,loss_of_function,-5.50272077764647,0.29399258487241775,0.9401830612368718,Pathogenic,0.9256,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340P,NP_000240:p.Ser340Pro,,,,,saturation,,2.64233,6.29354,3.778155498966168,Uncertain,Uncertain,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3224,0.4738,-8.9247,loss_of_function,-6.79267534005652,0.13474644299391408,0.9477526847216023,Pathogenic,0.95,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340Q,NP_000240:p.Ser340Gln,,,,,saturation,,-0.17273,-0.44762,0.0678839442112583,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2058,0.4738,-7.9247,loss_of_function,-3.90197235744228,0.491606529939884,0.9392242582404056,Pathogenic,0.9545,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340R,NP_000240:p.Ser340Arg,,,,,saturation,,-0.52167,0.38673,-0.4546541187303171,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3306,0.4738,-22.2125,loss_of_function,-4.99108320869222,0.357154739005845,0.9316832091124784,Pathogenic,0.988,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340T,NP_000240:p.Ser340Thr,,,,,"saturation,clinvar",,-0.16545,-0.10918,0.2500899436264492,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,neutral,,,UP,neutral,neutral,neutral,1751183,Uncertain significance,2,47.27,G,-0.1376,0.4738,-4.6029,loss_of_function,-1.96094736180341,0.7312279482848294,0.0909408517486832,Benign,0.263,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340V,NP_000240:p.Ser340Val,,,,,saturation,,0.6848,0.72823,0.2035720132758028,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2922,0.4738,-22.2125,loss_of_function,-3.9908833476586,0.48063038196138985,0.892838779314306,Pathogenic,0.8152,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340W,NP_000240:p.Ser340Trp,,,,,saturation,,-0.03722,-0.03265,-0.6072806898117616,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.3245,0.4738,-22.2125,loss_of_function,-6.0838353073287,0.22225343255022945,0.9838101490348538,Pathogenic,0.9534,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S340Y,NP_000240:p.Ser340Tyr,,,,,saturation,,0.02963,0.06497,-0.1984417137384142,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,94.9,,False,94.9,,uncertain,,,UP,neutral,neutral,neutral,,,,47.27,G,-0.2518,0.4738,-8.9247,loss_of_function,-4.42845079037007,0.42661225675451564,0.9461282053575452,Pathogenic,0.9224,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341A,NP_000240:p.Arg341Ala,,,,,saturation,,1.59491,1.23571,0.2083407032214868,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3908,0.2054,-22.2125,loss_of_function,-5.88371323542357,0.24695869642873658,0.965380727719938,Pathogenic,0.9919,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341C,NP_000240:p.Arg341Cys,,,,,saturation,,1.52262,1.93776,0.7968687172034672,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3997,0.2054,-22.2125,loss_of_function,-5.32982467756773,0.31533677612202143,0.9727812290199722,Pathogenic,0.9111,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341D,NP_000240:p.Arg341Asp,,,,,saturation,,1.755,1.72551,0.1300042161144593,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.4819,0.2054,-22.2125,loss_of_function,-4.63923088305636,0.40059124987317773,0.9073775040809005,Pathogenic,0.9973,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341E,NP_000240:p.Arg341Glu,,,,,saturation,,1.5633,1.89762,0.1386164318857158,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.4271,0.2054,-22.2125,loss_of_function,-5.41674368362144,0.3046065405204611,0.9523316877828912,Pathogenic,0.9854,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341F,NP_000240:p.Arg341Phe,,,,,saturation,,1.13481,2.25782,0.1409474030579993,Uncertain,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,48.26,-,-0.423,0.2054,-22.2125,loss_of_function,-6.68292382023126,0.14829537456621775,0.9768500367261086,Pathogenic,0.9963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341G,NP_000240:p.Arg341Gly,,,,,saturation,,1.41567,1.60136,0.6959992912035251,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3584,0.2054,-8.9247,loss_of_function,-6.19682568276487,0.20830466111133744,0.968790202484792,Pathogenic,0.9821,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341H,NP_000240:p.Arg341His,,,,,saturation,,1.42197,1.33435,0.0107922554320755,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3606,0.2054,-22.2125,loss_of_function,-6.10811851260082,0.21925564730669034,0.9523593959119668,Pathogenic,0.8573,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341I,NP_000240:p.Arg341Ile,,,,,saturation,,1.19024,1.92279,0.0407194542465055,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.4202,0.2054,-22.2125,loss_of_function,-6.05056257664573,0.22636098342483246,0.9733239980496802,Pathogenic,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341K,NP_000240:p.Arg341Lys,,,,,saturation,,0.27477,0.87993,0.2033267642918307,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,-,uncertain,uncertain,neutral,,,,48.26,-,-0.1989,0.2054,-6.1174,loss_of_function,-2.53282557293501,0.6606290284461795,0.2595960129583463,Benign,0.7778,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341L,NP_000240:p.Arg341Leu,,,,,saturation,,1.19826,1.61259,-0.3004156397974578,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3933,0.2054,-22.2125,loss_of_function,-6.5148757512236,0.16904107167790852,0.9524381988737892,Pathogenic,0.9626,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341M,NP_000240:p.Arg341Met,,,,,saturation,,1.03672,0.58197,0.0887584684306896,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.2913,0.2054,-8.9247,loss_of_function,-4.86472333329379,0.3727539881823846,0.9717575016921688,Pathogenic,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341N,NP_000240:p.Arg341Asn,,,,,saturation,,0.86666,1.12959,0.1282635407014082,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.4057,0.2054,-22.2125,loss_of_function,-4.87631445014333,0.3713230535648864,0.9629211935382644,Pathogenic,0.996,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341P,NP_000240:p.Arg341Pro,,,,,saturation,,3.10004,1.99218,0.7221023267481891,Uncertain,Uncertain,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.5329,0.2054,-22.2125,loss_of_function,-4.94646014635979,0.3626634993314544,0.9226025712754596,Pathogenic,0.9925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341Q,NP_000240:p.Arg341Gln,,,,,saturation,,0.84679,1.68299,0.2640882957020979,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.2897,0.2054,-7.3398,loss_of_function,-4.88698386777334,0.37000590361001107,0.8608494665431216,Pathogenic,0.8271,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341S,NP_000240:p.Arg341Ser,,,,,"saturation,clinvar",,1.50941,1.3415,0.146735002027426,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,2760120,Uncertain significance,2,48.26,-,-0.3914,0.2054,-22.2125,loss_of_function,-5.13624821269085,0.33923397846419495,0.9342025220640968,Pathogenic,0.9938,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341T,NP_000240:p.Arg341Thr,,,,,saturation,,1.47529,1.52755,0.1938775861968183,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.3957,0.2054,-22.2125,loss_of_function,-5.16866313823899,0.3352323244654867,0.9672825923945678,Pathogenic,0.9909,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341V,NP_000240:p.Arg341Val,,,,,saturation,,1.4905,1.56837,0.2119238647676247,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,DOWN,mixed_effects,mixed_effects,neutral,,,,48.26,-,-0.4073,0.2054,-22.2125,loss_of_function,-5.62395654754148,0.27902591149023287,0.9600008045398862,Pathogenic,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341W,NP_000240:p.Arg341Trp,,,,,saturation,,0.94284,2.56599,-0.2275544560686232,Uncertain,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,48.26,-,-0.4086,0.2054,-22.2125,loss_of_function,-6.68292382023126,0.14829537456621775,0.9946988312716007,Pathogenic,0.933,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R341Y,NP_000240:p.Arg341Tyr,,,,,saturation,,1.2847,1.97755,0.1876846690890293,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,68.1,,True,68.1,,neutral,neutral,neutral,UP,neutral,neutral,neutral,,,,48.26,-,-0.4123,0.2054,-22.2125,loss_of_function,-6.37025956699487,0.18689407988665468,0.9703840111789764,Pathogenic,0.9872,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I501A,NP_000240:p.Ile501Ala,,,,,saturation,,1.7973,0.86463,2.1480531785808075,Neutral,Uncertain,False,0.063,0.10532,-0.0232,,-0.01538,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.1595,1.9834,-5.7162,loss_of_function,-2.75712502771506,0.6329390432017066,,,0.7324,pathogenic,0.100233527,neutral,-0.271390416,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501C,NP_000240:p.Ile501Cys,,,,,saturation,,1.40115,0.45,2.088000878361619,Neutral,Uncertain,False,0.063,0.10786,-0.00575,,-0.01983,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.1283,1.9834,-3.5236,loss_of_function,-2.29327123305742,0.6902022440519178,,,0.7651,pathogenic,0.180784633,stabilizing,0.077263192,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501D,NP_000240:p.Ile501Asp,,,,,saturation,,2.96125,0.97211,2.766692617508935,Uncertain,Uncertain,False,0.063,-0.1347,-0.0911,,-0.0036,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3657,1.9834,-21.8113,loss_of_function,-3.5075272020027,0.5403011669579998,,,0.9631,pathogenic,0.120588721,stabilizing,-0.580697112,damaging,https://doi.org/10.1101/2022.10.22.513328 +I501E,NP_000240:p.Ile501Glu,,,,,saturation,,1.93514,2.73095,2.604185393107923,Uncertain,Uncertain,False,0.063,-0.06854,-0.03152,,-0.03013,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3466,1.9834,-21.8113,loss_of_function,-3.71080048711701,0.5152068827524038,,,0.9288,pathogenic,0.057925332,neutral,-0.64285196,damaging,https://doi.org/10.1101/2022.10.22.513328 +I501F,NP_000240:p.Ile501Phe,,,,,"saturation,clinvar",,1.83485,0.0068,1.160180645645779,Neutral,Neutral,False,0.063,0.09976,-0.04797,,0.0398,-0.17373,,Uncertain,Neutral,Neutral,31.3,,False,31.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1719472,Uncertain significance,2,80.55,-,-0.1246,1.9834,-6.5235,loss_of_function,-1.74324677927911,0.758103296348971,,,0.4055,ambiguous,0.112150979,stabilizing,-0.184703075,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501G,NP_000240:p.Ile501Gly,,,,,saturation,,2.40739,1.99048,3.474813560361719,Uncertain,Uncertain,False,0.063,0.1358,-0.00508,,0.01857,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3323,1.9834,-21.8113,loss_of_function,-4.90261762195494,0.3680759014928471,,,0.903,pathogenic,0.022651472,neutral,-0.523360148,damaging,https://doi.org/10.1101/2022.10.22.513328 +I501H,NP_000240:p.Ile501His,,,,,saturation,,1.806,0.72891,1.8175774272992584,Neutral,Neutral,False,0.063,0.1108,-0.02476,,0.01203,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3322,1.9834,-21.8113,loss_of_function,-4.00388298764092,0.4790255637969994,,,0.8812,pathogenic,0.000401215,neutral,-0.03797395,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501K,NP_000240:p.Ile501Lys,,,,,saturation,,1.12417,0.78571,2.7459543396203143,Neutral,Uncertain,False,0.063,0.22566,-0.03808,,0.10179,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.55,-,-0.3391,1.9834,-21.8113,loss_of_function,-2.89733922293007,0.6156294648062687,,,0.8474,pathogenic,0.006726365,neutral,-0.470360944,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501L,NP_000240:p.Ile501Leu,,,,,"saturation,clinvar",,0.40217,0.3551,0.0329593375706765,Neutral,Neutral,False,0.063,-0.13112,0.08722,,0.02807,0.21471,,Uncertain,Neutral,Neutral,31.3,,False,31.3,,neutral,neutral,neutral,-,-,uncertain,neutral,839681,Uncertain significance,1,80.55,-,-0.0413,1.9834,-5.0641,loss_of_function,-1.21371380013109,0.8234746562278833,,,0.2435,benign,0.02039999,neutral,-0.235444696,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501M,NP_000240:p.Ile501Met,,,,,saturation,,-0.01204,0.26565,0.7074385190217766,Neutral,Neutral,False,0.063,-0.20026,-0.03552,,-0.06319,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.55,-,-0.0544,1.9834,-6.5235,loss_of_function,-1.95855489728669,0.7315233003499106,,,0.2263,benign,-0.03148779,neutral,-0.19045476,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501N,NP_000240:p.Ile501Asn,,,,,saturation,,1.41347,0.55442,1.6448939044074733,Neutral,Neutral,False,0.063,0.01448,0.01162,,-0.00853,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.2109,1.9834,-8.5234,loss_of_function,-3.90419734587949,0.49133185295925613,,,0.6815,pathogenic,0.154253607,stabilizing,-0.300590988,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501P,NP_000240:p.Ile501Pro,,,,,saturation,,2.1084,0.52075,2.605593067891541,Uncertain,Uncertain,False,0.063,0.08234,-0.02494,,-0.04169,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3179,1.9834,-8.5234,loss_of_function,-3.56447545603388,0.5332708497627655,,,0.9078,pathogenic,-0.032512274,neutral,-0.261802034,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501Q,NP_000240:p.Ile501Gln,,,,,saturation,,1.64177,3.18299,2.0401153536687944,Uncertain,Uncertain,False,0.063,-0.00346,-0.02033,,0.05954,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.55,-,-0.3063,1.9834,-21.8113,loss_of_function,-2.52802274399316,0.6612219423373968,,,0.8536,pathogenic,0.04338809,neutral,-0.413116239,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501R,NP_000240:p.Ile501Arg,,,,,saturation,,1.44269,0.98061,2.078917229330759,Neutral,Uncertain,False,0.063,0.51016,-0.02743,,0.04095,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,80.55,-,-0.3659,1.9834,-21.8113,loss_of_function,-4.1131120634045,0.46554112845083745,,,0.7622,pathogenic,0.196946984,stabilizing,-0.61811229,damaging,https://doi.org/10.1101/2022.10.22.513328 +I501S,NP_000240:p.Ile501Ser,,,,,"saturation,clinvar",,2.30907,0.91361,2.586801347823152,Uncertain,Uncertain,False,0.063,0.1106,-0.0233,,-0.11125,0.04047,,Uncertain,Neutral,Neutral,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,135847,Uncertain significance,2,80.55,-,-0.2093,1.9834,-7.5235,loss_of_function,-2.40457684470639,0.6764614583366366,,,0.6475,pathogenic,0.003518958,neutral,-0.304759892,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501T,NP_000240:p.Ile501Thr,,,,,"saturation,clinvar",,1.58433,0.31054,1.7503989253625971,Neutral,Neutral,False,0.063,0.09048,-0.01077,,0.0149,0.1681,,Uncertain,Neutral,Neutral,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,657470,Uncertain significance,1,80.55,-,-0.1078,1.9834,-3.9386,loss_of_function,-2.00498831505029,0.7257910498904285,,,0.4873,ambiguous,-0.096311853,destabilizing,-0.196323866,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501V,NP_000240:p.Ile501Val,"hg19,3:g.37070366A>G, hg38,3:g.37028875A>G",,,0.287,"cBioPortal,COSMIC,saturation,clinvar",,1.19272,-0.06088,0.7496264595502774,Neutral,Neutral,False,0.063,0.06302,0.01163,,-0.00382,0.23736,,Uncertain,Neutral,Neutral,31.3,,False,31.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,632896,Uncertain significance,2,80.55,-,0.0115,1.9834,-2.5236,gain_of_function,-0.302214865805761,0.9360000837487445,,,0.1138,benign,0.083843916,neutral,0.131378879,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501W,NP_000240:p.Ile501Trp,,,,,saturation,,1.53344,-0.04014,1.5966197645350348,Neutral,Neutral,False,0.063,0.3896,-0.02956,,-0.07474,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,80.55,-,-0.2915,1.9834,-21.8113,loss_of_function,-4.00388298764092,0.4790255637969994,,,0.9241,pathogenic,0.347712535,stabilizing,-0.507049381,neutral,https://doi.org/10.1101/2022.10.22.513328 +I501Y,NP_000240:p.Ile501Tyr,,,,,saturation,,2.23651,-0.13571,1.7470835358108323,Uncertain,Uncertain,False,0.063,0.01762,-0.03182,,0.02899,,,Uncertain,Neutral,Uncertain,31.3,,False,31.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,80.55,-,-0.2274,1.9834,-7.5235,loss_of_function,-3.09706544176522,0.590973069373195,,,0.8481,pathogenic,0.100340547,neutral,-0.380703193,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502A,NP_000240:p.Asn502Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47622,0.58095,0.4127276204142238,Neutral,Neutral,False,0.044,,0.0712,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.37,-,-0.0044,2.5791,-5.1516,loss_of_function,-2.24676211634668,0.695943839619846,,,0.3109,benign,0.27220339,stabilizing,-0.21138854,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502C,NP_000240:p.Asn502Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29463,1.01463,1.0209666003635176,Neutral,Neutral,False,0.044,,0.0852,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.37,-,-0.1397,2.5791,-21.8987,loss_of_function,-3.27450217389123,0.5690683326933192,,,0.2375,benign,0.200161715,stabilizing,-0.127496879,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502D,NP_000240:p.Asn502Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08896,0.00714,-0.1411067676905725,Neutral,Neutral,False,0.044,,-0.14954,,,-0.02265,,Uncertain,Uncertain,Neutral,108.4,,True,108.4,,neutral,neutral,neutral,-,-,uncertain,neutral,1049395,Uncertain significance,0,81.37,-,-0.0134,2.5791,-6.2891,loss_of_function,-1.79183722150574,0.7521047591273928,,,0.2398,benign,-0.041421813,neutral,0.029445651,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502E,NP_000240:p.Asn502Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36309,0.27857,0.0311320286934646,Neutral,Neutral,False,0.044,,-0.08984,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0341,2.5791,-5.0261,loss_of_function,-1.34811807118119,0.8068823186057482,,,0.4958,ambiguous,-0.061069402,neutral,-0.039455829,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502F,NP_000240:p.Asn502Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03885,0.22517,0.2236110960301823,Neutral,Neutral,False,0.044,,0.02037,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0792,2.5791,-8.6109,loss_of_function,-2.33468322766856,0.6850898931509709,,,0.645,pathogenic,0.418666966,stabilizing,-0.219201571,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502G,NP_000240:p.Asn502Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21518,1.04558,0.6750208983202562,Neutral,Neutral,False,0.044,,-0.05397,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.37,-,-0.041,2.5791,-6.2891,loss_of_function,-2.59612072881511,0.6528151800617273,,,0.3563,ambiguous,0.018127869,neutral,-0.152256766,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502H,NP_000240:p.Asn502His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09222,-0.03333,-0.0289161709508595,Neutral,Neutral,False,0.044,,0.07897,,,0.03062,,Uncertain,Uncertain,Neutral,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,2828573,Uncertain significance,1,81.37,-,-0.0168,2.5791,-6.611,loss_of_function,-1.9362561677666,0.7342761001370848,,,0.0722,benign,0.093932452,neutral,-0.101097777,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502I,NP_000240:p.Asn502Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86238,0.60544,0.4162949314381903,Neutral,Neutral,False,0.044,,0.0348,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0672,2.5791,-7.611,loss_of_function,-2.9125044944293,0.6137572973306326,,,0.3547,ambiguous,0.313519107,stabilizing,-0.131118862,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502K,NP_000240:p.Asn502Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03627,0.3585,0.2793237565627793,Neutral,Neutral,False,0.044,,0.06341,,,0.06797,,Uncertain,Uncertain,Neutral,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1518667,Uncertain significance,1,81.37,-,0.0081,2.5791,-2.0719,gain_of_function,-0.455041674445916,0.917133465992783,,,0.2377,benign,-0.024652812,neutral,-0.064239951,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502L,NP_000240:p.Asn502Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03987,0.1017,-0.0647889996917888,Neutral,Neutral,False,0.044,,0.00302,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0736,2.5791,-7.611,loss_of_function,-2.21535672674978,0.6998208654262075,,,0.2813,benign,0.260563705,stabilizing,-0.05851824,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502M,NP_000240:p.Asn502Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23814,0.31088,0.2407549325394797,Neutral,Neutral,False,0.044,,-0.03585,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0329,2.5791,-8.6109,loss_of_function,-2.17799410239411,0.7044333176415631,,,0.4311,ambiguous,0.264286463,stabilizing,-0.083976174,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502P,NP_000240:p.Asn502Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24227,-0.15408,1.001023522026155,Neutral,Neutral,False,0.044,,0.07554,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,81.37,-,-0.2555,2.5791,-21.8987,loss_of_function,-3.50639345939938,0.540441128582016,,,0.6527,pathogenic,0.106007173,neutral,-0.080626615,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502Q,NP_000240:p.Asn502Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48697,0.33435,0.3520758270282198,Neutral,Neutral,False,0.044,,-0.0056,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,0.0016,2.5791,-5.1516,gain_of_function,-0.87217074540908,0.8656384776017633,,,0.2907,benign,-0.0053841,neutral,-0.059637994,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502R,NP_000240:p.Asn502Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14489,0.28265,0.2116034943450095,Neutral,Neutral,False,0.044,,0.01512,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0267,2.5791,-2.5887,loss_of_function,-0.779595167577306,0.8770670224757313,,,0.2164,benign,0.116816942,stabilizing,-0.109736264,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502S,NP_000240:p.Asn502Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58181,0.34932,0.2244644994406747,Neutral,Neutral,False,0.044,,0.06715,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.37,-,0.0234,2.5791,-5.611,gain_of_function,-0.734537111283335,0.8826294832278011,,,0.09,benign,-0.063757734,neutral,-0.197546825,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502T,NP_000240:p.Asn502Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5318,0.1585,0.3298571720248988,Neutral,Neutral,False,0.044,,0.07898,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,81.37,-,-0.0254,2.5791,-5.4411,loss_of_function,-1.44703572333426,0.7946708385055299,,,0.163,benign,0.007998148,neutral,0.060268957,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502V,NP_000240:p.Asn502Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63959,0.54694,0.3813324881833296,Neutral,Neutral,False,0.044,,0.04139,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.1335,2.5791,-21.8987,loss_of_function,-3.37543370277061,0.5566082375579445,,,0.3286,benign,0.230032147,stabilizing,-0.214054293,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502W,NP_000240:p.Asn502Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12359,0.6534,-0.0311752204604198,Neutral,Neutral,False,0.044,,0.05665,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.1521,2.5791,-21.8987,loss_of_function,-3.40639176382891,0.5527864348935446,,,0.7891,pathogenic,0.552789109,stabilizing,-0.192073264,neutral,https://doi.org/10.1101/2022.10.22.513328 +N502Y,NP_000240:p.Asn502Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02368,0.17619,0.2973589419049799,Neutral,Neutral,False,0.044,,0.0312,,,,,Uncertain,Uncertain,Uncertain,108.4,,True,108.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.37,-,-0.0496,2.5791,-6.026,loss_of_function,-3.40639176382891,0.5527864348935446,,,0.1805,benign,0.241910837,stabilizing,-0.245184908,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503A,NP_000240:p.Leu503Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.04594,0.72177,2.50140222398632,Uncertain,Uncertain,False,0.04,,0.28885,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.3866,0.3465,-22.0459,loss_of_function,-4.96891354328077,0.3598916057036259,,,0.9762,pathogenic,0.035001182,neutral,-0.339966729,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503C,NP_000240:p.Leu503Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.81228,1.31769,2.666733421052136,Neutral,Uncertain,False,0.04,,0.3493,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.3759,0.3465,-22.0459,loss_of_function,-5.15681461363102,0.33669503632042713,,,0.968,pathogenic,0.009284111,neutral,-0.373227048,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503D,NP_000240:p.Leu503Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39157,1.1619,3.0990890028424123,Neutral,Uncertain,False,0.04,,0.5864,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4404,0.3465,-8.7581,loss_of_function,-3.99621668426919,0.47997197638391814,,,0.9985,pathogenic,0.008738944,neutral,-0.341355226,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503E,NP_000240:p.Leu503Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.85139,0.81122,2.529009803871168,Neutral,Uncertain,False,0.04,,0.09133,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4762,0.3465,-22.0459,loss_of_function,-4.10716103289946,0.4662757889386909,,,0.9914,pathogenic,-0.048265148,neutral,-0.282402843,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503F,NP_000240:p.Leu503Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10042,0.76871,0.6882180713623459,Neutral,Neutral,False,0.04,,-0.12816,,,-0.16399,,Uncertain,Uncertain,Neutral,37.1,,True,37.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,819413,Uncertain significance,2,87.97,-,-0.2353,0.3465,-5.4363,loss_of_function,-2.1963886207803,0.7021624965056301,,,0.698,pathogenic,0.204027728,stabilizing,-0.009568024,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503G,NP_000240:p.Leu503Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.62235,2.46429,3.7175924778712455,Uncertain,Uncertain,False,0.04,,0.33944,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4615,0.3465,-22.0459,loss_of_function,-6.29305229985107,0.1964253919002051,,,0.9911,pathogenic,0.080139766,neutral,-0.640904499,damaging,https://doi.org/10.1101/2022.10.22.513328 +L503H,NP_000240:p.Leu503His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.38586,0.34592,1.6423824849277235,Neutral,Neutral,False,0.04,,0.64334,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.429,0.3465,-22.0459,loss_of_function,-5.08085302237969,0.34607256843684975,,,0.9634,pathogenic,-0.047391545,neutral,-0.389210024,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503I,NP_000240:p.Leu503Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67286,-0.79456,1.3193136554161304,Neutral,Neutral,False,0.04,,0.19357,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.97,-,-0.1827,0.3465,-6.7582,loss_of_function,-2.74484462243319,0.6344550711447284,,,0.6412,pathogenic,-0.13416975,destabilizing,-0.168175657,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503K,NP_000240:p.Leu503Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6196,0.65374,2.382304494153684,Neutral,Uncertain,False,0.04,,0.79406,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.97,-,-0.4752,0.3465,-22.0459,loss_of_function,-6.29305229985107,0.1964253919002051,,,0.9617,pathogenic,-0.119385668,destabilizing,-0.285127766,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503M,NP_000240:p.Leu503Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36452,-0.34762,1.1310918031298285,Neutral,Neutral,False,0.04,,-0.00949,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.97,-,-0.284,0.3465,-22.0459,loss_of_function,-3.96756101001171,0.4835095471646324,,,0.6059,pathogenic,-0.10313323,destabilizing,-0.296223765,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503N,NP_000240:p.Leu503Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06041,0.43095,2.260474558483636,Neutral,Uncertain,False,0.04,,-0.1381,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4545,0.3465,-22.0459,loss_of_function,-5.13361525066684,0.3395590201798139,,,0.9887,pathogenic,-0.113775774,destabilizing,-0.275575268,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503P,NP_000240:p.Leu503Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.44068,2.63129,5.9443326488004296,Uncertain,Uncertain,False,0.04,,-0.14164,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4022,0.3465,-8.7581,loss_of_function,-4.08904008368255,0.4685128376953369,,,0.9935,pathogenic,0.019088272,neutral,-0.496108628,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503Q,NP_000240:p.Leu503Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49554,0.78265,2.045080176325554,Neutral,Uncertain,False,0.04,,0.35385,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.4074,0.3465,-22.0459,loss_of_function,-4.40328749878286,0.4297186895072634,,,0.9756,pathogenic,0.008901447,neutral,-0.399580884,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503R,NP_000240:p.Leu503Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39078,1.16803,1.8731696795105195,Neutral,Neutral,False,0.04,,0.67873,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.97,-,-0.4668,0.3465,-22.0459,loss_of_function,-6.29305229985107,0.1964253919002051,,,0.9267,pathogenic,-0.148498991,destabilizing,-0.37400286,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503S,NP_000240:p.Leu503Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94929,1.75646,3.0207550525632274,Neutral,Uncertain,False,0.04,,0.03942,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.3492,0.3465,-8.7581,loss_of_function,-4.01533774700291,0.47761146264359483,,,0.9924,pathogenic,-0.082836613,destabilizing,-0.188719267,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503T,NP_000240:p.Leu503Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05166,1.10884,2.469256488692424,Uncertain,Uncertain,False,0.04,,-0.41388,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.97,-,-0.3898,0.3465,-22.0459,loss_of_function,-4.05357435753553,0.47289111598700057,,,0.9735,pathogenic,-0.031565786,neutral,-0.528535671,damaging,https://doi.org/10.1101/2022.10.22.513328 +L503V,NP_000240:p.Leu503Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06475,0.85374,1.8534750912413072,Uncertain,Uncertain,False,0.04,,-0.11922,,,0.11585,,Uncertain,Uncertain,Neutral,37.1,,True,37.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2834045,Uncertain significance,1,87.97,-,-0.297,0.3465,-22.0459,loss_of_function,-2.86119003819399,0.6200921167236499,,,0.7548,pathogenic,-0.058509776,neutral,-0.440399591,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503W,NP_000240:p.Leu503Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.58328,1.19082,0.9278641359334784,Neutral,Neutral,False,0.04,,-0.30176,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.97,-,-0.4192,0.3465,-22.0459,loss_of_function,-5.08085302237969,0.34607256843684975,,,0.9382,pathogenic,0.114336271,stabilizing,-0.294924467,neutral,https://doi.org/10.1101/2022.10.22.513328 +L503Y,NP_000240:p.Leu503Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33566,0.17585,1.0312126254127174,Neutral,Neutral,False,0.04,,-0.31829,,,,,Uncertain,Uncertain,Uncertain,37.1,,True,37.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.97,-,-0.3392,0.3465,-7.7582,loss_of_function,-3.59525809018521,0.5294707037201807,,,0.9522,pathogenic,0.555801943,stabilizing,-0.07899435,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504A,NP_000240:p.Thr504Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28876,-0.37517,-0.2968413680610565,Neutral,Neutral,False,0.048,,-0.13648,,,-0.01653,,Uncertain,Uncertain,Neutral,105.4,,True,105.4,,uncertain,,,DOWN,-,neutral,neutral,483542,Uncertain significance,2,89.9,H,-0.0697,1.7986,-5.0644,loss_of_function,-1.4554537228813,0.7936316282966861,,,0.1498,benign,-0.000413748,neutral,-0.133681687,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504C,NP_000240:p.Thr504Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21153,0.73537,0.5757254492198383,Neutral,Neutral,False,0.048,,-0.06483,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,DOWN,-,neutral,neutral,,,,89.9,H,-0.1922,1.7986,-22.0526,loss_of_function,-2.9775893073202,0.6057225140523783,,,0.6499,pathogenic,0.111210355,stabilizing,-0.247285765,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504D,NP_000240:p.Thr504Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12554,-0.21327,-0.3581888452306203,Neutral,Neutral,False,0.048,,-0.22498,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,-,-,uncertain,neutral,,,,89.9,H,-0.199,1.7986,-7.7648,loss_of_function,-2.41331391080427,0.6753828590526237,,,0.5994,pathogenic,-0.012740785,neutral,0.013316327,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504E,NP_000240:p.Thr504Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5912,-0.59864,-0.5403288867343214,Neutral,Neutral,False,0.048,,-0.23739,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1794,1.7986,-8.7647,loss_of_function,-2.37274076098338,0.6803916537506042,,,0.4774,ambiguous,-0.027954881,neutral,0.020598184,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504F,NP_000240:p.Thr504Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.04839,0.17245,-0.3688432076253156,Neutral,Neutral,False,0.048,,-0.0673,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.2636,1.7986,-22.0526,loss_of_function,-4.35359587085394,0.43585316917184797,,,0.5484,ambiguous,0.433750518,stabilizing,0.006480491,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504G,NP_000240:p.Thr504Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08834,0.3119,0.3806569915460167,Neutral,Neutral,False,0.048,,-0.17527,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,DOWN,-,neutral,neutral,,,,89.9,H,-0.1539,1.7986,-7.1799,loss_of_function,-4.39050377668111,0.431296852399875,,,0.3795,ambiguous,0.046284468,neutral,-0.126104457,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504H,NP_000240:p.Thr504His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34057,-0.03435,-0.5741320397505933,Neutral,Neutral,False,0.048,,-0.03696,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1761,1.7986,-8.7647,loss_of_function,-3.38465329643386,0.5554700697779748,,,0.3309,benign,0.111973454,stabilizing,-0.00118706,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504I,NP_000240:p.Thr504Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2031,-0.05952,-0.3744895667979991,Neutral,Neutral,False,0.048,,-0.0043,,,-0.07464,,Uncertain,Uncertain,Neutral,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,937341,Uncertain significance,1,89.9,H,-0.0991,1.7986,-5.7649,loss_of_function,-1.94793091840946,0.7328348408466834,,,0.4948,ambiguous,0.360842112,stabilizing,-0.080750586,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504K,NP_000240:p.Thr504Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50574,-0.45204,-0.4975403313457077,Neutral,Neutral,False,0.048,,-0.03516,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1522,1.7986,-4.9575,loss_of_function,-2.88398642720778,0.6172778803892901,,,0.2927,benign,-0.026098991,neutral,-0.1780219,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504L,NP_000240:p.Thr504Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45092,-0.39694,-0.7621113524835427,Neutral,Neutral,False,0.048,,-0.00361,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1545,1.7986,-6.4429,loss_of_function,-2.36840361803889,0.6809270782537705,,,0.2328,benign,0.230183563,stabilizing,-0.14248609,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504M,NP_000240:p.Thr504Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.61461,-0.26122,-0.3711323593875459,Neutral,Neutral,False,0.048,,-0.03359,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1201,1.7986,-6.1799,loss_of_function,-3.91923456290771,0.48947549393226847,,,0.171,benign,0.13394813,stabilizing,-0.147892776,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504N,NP_000240:p.Thr504Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02211,-0.2517,-0.2067628602357774,Neutral,Neutral,False,0.048,,-0.06404,,,0.07568,,Uncertain,Uncertain,Neutral,105.4,,True,105.4,,uncertain,,,-,-,uncertain,neutral,,,,89.9,H,-0.1237,1.7986,-4.7649,loss_of_function,-1.0481239892462,0.8439168789900114,,,0.2085,benign,0.024384562,neutral,-0.095052089,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504P,NP_000240:p.Thr504Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.93049,-0.98639,0.3214600481527147,Neutral,Neutral,False,0.048,,0.22081,,,0.5132,,Uncertain,Uncertain,Neutral,105.4,,True,105.4,,uncertain,,,-,-,uncertain,neutral,,,,89.9,H,-0.3206,1.7986,-22.0526,loss_of_function,-3.6810683236791,0.5188773471665474,,,0.4396,ambiguous,-0.077065583,neutral,-0.161888347,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504Q,NP_000240:p.Thr504Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.57574,-0.47687,-0.2155674763753373,Neutral,Neutral,False,0.048,,-0.04628,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1418,1.7986,-6.4429,loss_of_function,-2.38893823824122,0.6783920594729137,,,0.2972,benign,-0.041515132,neutral,-0.209279442,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504R,NP_000240:p.Thr504Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42263,-0.02517,-0.5883377623462632,Neutral,Neutral,False,0.048,,0.04457,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.1583,1.7986,-5.5949,loss_of_function,-2.54218769444194,0.6594732654656673,,,0.2353,benign,0.042815836,neutral,-0.007270419,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504S,NP_000240:p.Thr504Ser,"hg19,3:g.37070375A>T, hg38,3:g.37028884A>T",,,0.539,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03895,-0.34762,-0.2792169070819461,Neutral,Neutral,False,0.048,,-0.10591,,,-0.27815,,Uncertain,Uncertain,Neutral,105.4,,True,105.4,,neutral,,,DOWN,-,neutral,neutral,233884,Uncertain significance,2,89.9,H,-0.0255,1.7986,-3.5169,loss_of_function,-0.438168747178596,0.9192164452292743,,,0.151,benign,0.004511239,neutral,-0.081304486,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504V,NP_000240:p.Thr504Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01804,0.25782,-0.1662251043859169,Neutral,Neutral,False,0.048,,0.03944,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.0901,1.7986,-6.4429,loss_of_function,-1.59330505896256,0.776613747153087,,,0.3644,ambiguous,0.095978865,neutral,-0.258303521,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504W,NP_000240:p.Thr504Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26375,-0.39422,-0.9375249812195569,Neutral,Neutral,False,0.048,,-0.05938,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.2565,1.7986,-22.0526,loss_of_function,-4.35359587085394,0.43585316917184797,,,0.8103,pathogenic,0.527126644,stabilizing,0.011722653,neutral,https://doi.org/10.1101/2022.10.22.513328 +T504Y,NP_000240:p.Thr504Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02277,-0.06667,-0.3751854354943251,Neutral,Neutral,False,0.048,,-0.06982,,,,,Uncertain,Uncertain,Uncertain,105.4,,True,105.4,,uncertain,,,UP,-,neutral,neutral,,,,89.9,H,-0.265,1.7986,-22.0526,loss_of_function,-4.35359587085394,0.43585316917184797,,,0.5532,ambiguous,0.450454717,stabilizing,-0.19290042,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505A,NP_000240:p.Ser505Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51946,-1.26327,-1.082628483950932,Neutral,Neutral,False,0.036,,-0.13583,,,,,,,,10.8,,True,10.8,,uncertain,,,-,-,uncertain,neutral,,,,91.45,H,-0.1613,0.4922,-7.7681,loss_of_function,-3.83571066255408,0.499786600442183,,,0.4734,ambiguous,-0.001771831,neutral,-0.205858087,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505C,NP_000240:p.Ser505Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09533,-0.40068,-0.1639443057665818,Neutral,Neutral,False,0.036,,0.0297,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2169,0.4922,-8.768,loss_of_function,-2.56669480292268,0.6564478391538565,,,0.7515,pathogenic,-0.024050163,neutral,-0.390618357,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505D,NP_000240:p.Ser505Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.509,0.71565,1.749866620489311,Neutral,Neutral,False,0.036,,0.21807,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2651,0.4922,-8.768,loss_of_function,-5.45644179789324,0.29970576980972763,,,0.9856,pathogenic,0.145820081,stabilizing,-0.69674809,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505E,NP_000240:p.Ser505Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10077,0.49898,2.0251390533390348,Neutral,Uncertain,False,0.036,,0.66625,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2332,0.4922,-7.7681,loss_of_function,-5.0429500228256,0.3507517304945694,,,0.9887,pathogenic,-0.005153768,neutral,-0.602851318,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505F,NP_000240:p.Ser505Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.55967,-0.78231,0.8968017674590214,Neutral,Neutral,False,0.036,,0.24183,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.3123,0.4922,-22.0559,loss_of_function,-6.24437069425008,0.20243518332876886,,,0.979,pathogenic,0.112430061,stabilizing,-0.933006495,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505G,NP_000240:p.Ser505Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11034,0.67823,1.002937578378175,Neutral,Neutral,False,0.036,,-0.23641,,,,,,,,10.8,,True,10.8,,uncertain,,,DOWN,-,neutral,neutral,,,,91.45,H,-0.1756,0.4922,-8.768,loss_of_function,-4.61322978057211,0.40380111119377227,,,0.66,pathogenic,0.015408084,neutral,-0.30683618,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505H,NP_000240:p.Ser505His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87845,-0.22993,0.946502492688556,Neutral,Neutral,False,0.036,,-0.32819,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.3135,0.4922,-22.0559,loss_of_function,-6.24437069425008,0.20243518332876886,,,0.9796,pathogenic,0.149457435,stabilizing,-0.455599214,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505I,NP_000240:p.Ser505Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26339,0.26599,0.1963905137162891,Neutral,Neutral,False,0.036,,0.40979,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2476,0.4922,-8.768,loss_of_function,-4.60094960414623,0.40531711088430017,,,0.9533,pathogenic,0.479044226,stabilizing,-1.0037734,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505K,NP_000240:p.Ser505Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51967,-0.74626,3.185916824823487,Neutral,Uncertain,False,0.036,,0.04582,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.3229,0.4922,-22.0559,loss_of_function,-5.23473088527028,0.3270761970142365,,,0.9976,pathogenic,0.234137453,stabilizing,-0.584357373,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505L,NP_000240:p.Ser505Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64752,-0.03469,0.2473475105405215,Neutral,Neutral,False,0.036,,0.12162,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2439,0.4922,-8.768,loss_of_function,-5.73322503172963,0.265536611135835,,,0.8594,pathogenic,0.389222692,stabilizing,-0.895544188,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505M,NP_000240:p.Ser505Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.80881,0.01224,0.2825600160092428,Neutral,Neutral,False,0.036,,0.02503,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2828,0.4922,-22.0559,loss_of_function,-5.73322503172963,0.265536611135835,,,0.916,pathogenic,0.313759699,stabilizing,-0.834991768,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505N,NP_000240:p.Ser505Asn,"hg38,3:g.37028888G>A",3.1841049481e-05,3.18154702724e-05,0.703,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06669,-0.80578,0.4792827209418554,Neutral,Neutral,False,0.036,,0.08142,,,0.18301,,,,Neutral,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,185154,Conflicting classifications of pathogenicity,1,91.45,H,-0.1836,0.4922,-7.7681,loss_of_function,-4.44707077588519,0.42431360148283176,,,0.9495,pathogenic,-0.007321753,neutral,-0.428715638,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505P,NP_000240:p.Ser505Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.35306,2.13537,3.554666269813954,Uncertain,Uncertain,False,0.036,,0.06689,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.3199,0.4922,-8.768,loss_of_function,-6.47992983209157,0.17335517928940197,,,0.9653,pathogenic,-0.098070868,destabilizing,-0.389850251,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505Q,NP_000240:p.Ser505Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51126,-0.20068,1.0784992574928405,Neutral,Neutral,False,0.036,,0.44145,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2762,0.4922,-22.0559,loss_of_function,-5.63545915622762,0.2776059032913521,,,0.9901,pathogenic,-0.023168535,neutral,-0.687062644,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505R,NP_000240:p.Ser505Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20251,0.18741,2.194124600550107,Neutral,Uncertain,False,0.036,,-0.14741,,,-0.09385,,,,Neutral,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,1388754,Uncertain significance,1,91.45,H,-0.3281,0.4922,-22.0559,loss_of_function,-4.20652473246518,0.4540092438527519,,,0.9959,pathogenic,0.362448709,stabilizing,-0.855851141,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505T,NP_000240:p.Ser505Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.03285,-0.24558,-0.1872538607635993,Neutral,Neutral,False,0.036,,0.14174,,,-0.06454,,,,Neutral,10.8,,True,10.8,,neutral,,,UP,-,neutral,neutral,1774281,Uncertain significance,1,91.45,H,-0.1367,0.4922,-4.7682,loss_of_function,-0.85441508076932,0.8678304316230643,,,0.3323,benign,-0.03893843,neutral,-0.12422096,neutral,https://doi.org/10.1101/2022.10.22.513328 +S505V,NP_000240:p.Ser505Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.43506,-0.06088,-0.6375654822324067,Neutral,Neutral,False,0.036,,0.0582,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.2897,0.4922,-22.0559,loss_of_function,-5.11826406110199,0.3414541394209758,,,0.8836,pathogenic,0.133892602,stabilizing,-0.801159959,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505W,NP_000240:p.Ser505Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25188,0.09592,2.053302369073122,Neutral,Uncertain,False,0.036,,-0.42656,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.322,0.4922,-22.0559,loss_of_function,-6.24437069425008,0.20243518332876886,,,0.9725,pathogenic,0.220116606,stabilizing,-0.733326572,damaging,https://doi.org/10.1101/2022.10.22.513328 +S505Y,NP_000240:p.Ser505Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.91548,-0.39932,1.4098602963390043,Neutral,Neutral,False,0.036,,0.21249,,,,,,,,10.8,,True,10.8,,uncertain,,,UP,-,neutral,neutral,,,,91.45,H,-0.3171,0.4922,-22.0559,loss_of_function,-6.24437069425008,0.20243518332876886,,,0.9606,pathogenic,0.189076319,stabilizing,-0.690478966,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506A,NP_000240:p.Val506Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43827,2.40476,2.8014491888372497,Uncertain,Uncertain,False,0.036,,-0.05396,,,-0.04249,,,,Neutral,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89757,Conflicting classifications of pathogenicity,1,90.78,H,-0.2526,1.0594,-22.0559,loss_of_function,-2.73423317222329,0.6357650649653677,,,0.8645,pathogenic,0.13228137,stabilizing,-0.407805914,neutral,https://doi.org/10.1101/2022.10.22.513328 +V506C,NP_000240:p.Val506Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34014,2.54592,2.981948952927476,Uncertain,Uncertain,False,0.036,,-0.05408,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.2804,1.0594,-22.0559,loss_of_function,-3.38326822633265,0.5556410580253723,,,0.9473,pathogenic,0.130881027,stabilizing,-0.665780891,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506D,NP_000240:p.Val506Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.44885,4.0432,4.395409520133733,Destabilizing,Destabilizing,False,0.036,,-0.0403,,,-0.13037,,,,Neutral,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,479686,Uncertain significance,1,90.78,H,-0.4192,1.0594,-22.0559,loss_of_function,-3.33185058062419,0.5619886162589353,,,0.9934,pathogenic,0.559682903,stabilizing,-0.924358447,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506E,NP_000240:p.Val506Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.33642,4.18844,3.792974871718565,Destabilizing,Destabilizing,False,0.036,,-0.07816,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.78,H,-0.3765,1.0594,-22.0559,loss_of_function,-3.4149862702139,0.551725434744359,,,0.9832,pathogenic,0.545705098,stabilizing,-1.021452793,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506F,NP_000240:p.Val506Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.20029,5.68946,1.598894645092073,Destabilizing,Uncertain,False,0.036,,0.05964,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.3297,1.0594,-22.0559,loss_of_function,-3.70023019795793,0.5165117952013963,,,0.7289,pathogenic,0.507828529,stabilizing,-0.846350524,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506G,NP_000240:p.Val506Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16597,4.57653,4.948502341727091,Destabilizing,Destabilizing,False,0.036,,-0.08046,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.3055,1.0594,-7.7681,loss_of_function,-3.92628066247428,0.488605646106643,,,0.9307,pathogenic,0.444335325,stabilizing,-0.931317688,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506H,NP_000240:p.Val506His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.27524,5.97823,2.6808594856875443,Destabilizing,Uncertain,False,0.036,,-0.05529,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.4221,1.0594,-22.0559,loss_of_function,-3.44011511108681,0.548623254965706,,,0.9898,pathogenic,0.166962073,stabilizing,-0.796641147,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506I,NP_000240:p.Val506Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.13375,-0.23299,0.5746777323662907,Neutral,Neutral,False,0.036,,0.03215,,,-0.03153,,,,Neutral,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,2033547,Uncertain significance,1,90.78,H,-0.0843,1.0594,-1.7129,loss_of_function,-0.0704273394846945,0.9646144786877646,,,0.0731,benign,-0.047625023,neutral,0.153878332,neutral,https://doi.org/10.1101/2022.10.22.513328 +V506K,NP_000240:p.Val506Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.72028,3.91361,4.992846285962739,Uncertain,Uncertain,False,0.036,,-0.04549,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.4154,1.0594,-22.0559,loss_of_function,-2.9353668611172,0.610934915988411,,,0.9801,pathogenic,0.051772632,neutral,-0.924992863,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506L,NP_000240:p.Val506Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2562,-0.07789,0.5015452696742201,Neutral,Neutral,False,0.036,,-0.02577,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.171,1.0594,-5.9608,loss_of_function,-1.2293422014104,0.8215453149316989,,,0.4731,ambiguous,-0.030173471,neutral,-0.182207653,neutral,https://doi.org/10.1101/2022.10.22.513328 +V506M,NP_000240:p.Val506Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84192,1.60646,1.1322184294338555,Neutral,Neutral,False,0.036,,-0.00904,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.2623,1.0594,-22.0559,loss_of_function,-1.7520618779852,0.7570150638637891,,,0.5085,ambiguous,0.041002135,neutral,-0.27503187,neutral,https://doi.org/10.1101/2022.10.22.513328 +V506N,NP_000240:p.Val506Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.96026,1.80782,2.875714817764308,Neutral,Uncertain,False,0.036,,-0.05359,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.407,1.0594,-22.0559,loss_of_function,-3.26153363386126,0.5706693115384277,,,0.9658,pathogenic,0.013937814,neutral,-0.670209676,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506P,NP_000240:p.Val506Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97239,7.09932,8.440411597914448,Uncertain,Uncertain,False,0.036,,0.16914,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.3891,1.0594,-8.768,loss_of_function,-3.55534986365964,0.5343974129924335,,,0.9803,pathogenic,0.26653825,stabilizing,-0.759846564,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506Q,NP_000240:p.Val506Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.90759,2.88333,2.740294270148249,Uncertain,Uncertain,False,0.036,,-0.04529,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.78,H,-0.3871,1.0594,-22.0559,loss_of_function,-3.17448133416026,0.5814160023700299,,,0.9766,pathogenic,0.179069543,stabilizing,-1.063369612,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506R,NP_000240:p.Val506Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48564,6.02143,3.666315492441045,Uncertain,Uncertain,False,0.036,,-0.0395,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.4364,1.0594,-22.0559,loss_of_function,-3.27621903393322,0.5688563846559237,,,0.9687,pathogenic,0.007630782,neutral,-0.793187109,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506S,NP_000240:p.Val506Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94857,3.12075,3.86089034664487,Uncertain,Uncertain,False,0.036,,-0.06066,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.3562,1.0594,-22.0559,loss_of_function,-3.38326822633265,0.5556410580253723,,,0.9348,pathogenic,0.334471327,stabilizing,-0.937704118,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506T,NP_000240:p.Val506Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23881,1.85918,2.3482796120763623,Neutral,Uncertain,False,0.036,,0.00607,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.78,H,-0.2716,1.0594,-22.0559,loss_of_function,-2.51837094408111,0.6624134663979852,,,0.8671,pathogenic,0.090575866,neutral,-0.570413977,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506W,NP_000240:p.Val506Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.30026,6.46769,2.929376614703944,Destabilizing,Uncertain,False,0.036,,0.05602,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.3703,1.0594,-22.0559,loss_of_function,-3.70023019795793,0.5165117952013963,,,0.9919,pathogenic,0.222107289,stabilizing,-0.681058469,damaging,https://doi.org/10.1101/2022.10.22.513328 +V506Y,NP_000240:p.Val506Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.80599,5.63163,2.627247155810455,Destabilizing,Uncertain,False,0.036,,-0.00509,,,,,,,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.78,H,-0.3732,1.0594,-22.0559,loss_of_function,-3.70023019795793,0.5165117952013963,,,0.9716,pathogenic,0.446472182,stabilizing,-1.027948229,damaging,https://doi.org/10.1101/2022.10.22.513328 +L507A,NP_000240:p.Leu507Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67223,1.21599,1.478121095286194,Neutral,Neutral,False,0.042,,-0.01499,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.1319,2.2499,-6.4462,loss_of_function,-1.01261717871216,0.8483002291891012,,,0.2971,benign,-0.037073184,neutral,-0.402802764,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507C,NP_000240:p.Leu507Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31666,1.55748,2.1528001384661275,Neutral,Uncertain,False,0.042,,-0.04808,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2008,2.2499,-22.0559,loss_of_function,-2.53080599787466,0.6608783469462001,,,0.4588,ambiguous,0.018646016,neutral,-0.109507118,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507D,NP_000240:p.Leu507Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6571,2.64048,1.927973985061079,Uncertain,Neutral,False,0.042,,-0.08016,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2653,2.2499,-8.768,loss_of_function,-2.34771368966686,0.683481269978813,,,0.8198,pathogenic,-0.064814501,neutral,-0.541384402,damaging,https://doi.org/10.1101/2022.10.22.513328 +L507E,NP_000240:p.Leu507Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22158,1.17211,1.3813765108689886,Neutral,Neutral,False,0.042,,-0.14398,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2282,2.2499,-7.7681,loss_of_function,-2.47132989539008,0.6682207294848101,,,0.3957,ambiguous,-0.03729399,neutral,-0.192269566,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507F,NP_000240:p.Leu507Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80954,1.37041,0.8237619019943528,Neutral,Neutral,False,0.042,,-0.04009,,,0.43769,,Uncertain,Uncertain,Neutral,53.2,,True,53.2,,neutral,neutral,neutral,UP,-,neutral,neutral,216330,Uncertain significance,1,91.35,H,-0.0721,2.2499,-7.7681,loss_of_function,-2.74476531318388,0.6344648619484792,,,0.1736,benign,-0.023196154,neutral,-0.063704916,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507G,NP_000240:p.Leu507Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54934,2.48741,2.434055551202264,Uncertain,Uncertain,False,0.042,,-0.01414,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2105,2.2499,-7.1832,loss_of_function,-4.433984131763,0.4259291603926759,,,0.569,pathogenic,-0.077952639,neutral,-0.253689846,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507H,NP_000240:p.Leu507His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28564,1.6966,1.0862115460286936,Neutral,Neutral,False,0.042,,0.03266,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.181,2.2499,-7.7681,loss_of_function,-2.77480128805937,0.6307568917176944,,,0.2004,benign,0.139294901,stabilizing,-0.139201548,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507I,NP_000240:p.Leu507Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17687,0.34014,0.5345113759474879,Neutral,Neutral,False,0.042,,-0.02218,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.35,H,-0.006,2.2499,-6.4462,loss_of_function,-1.42746224685889,0.7970872031610637,,,0.0943,benign,-0.012065012,neutral,-0.075659109,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507K,NP_000240:p.Leu507Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06462,0.8881,1.2716731074096437,Neutral,Neutral,False,0.042,,-0.03027,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.35,H,-0.1961,2.2499,-1.6702,loss_of_function,-0.652045857607605,0.8928131085037473,,,0.1751,benign,-0.046965288,neutral,0.289784103,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507M,NP_000240:p.Leu507Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21811,0.56939,0.8544393046688309,Neutral,Neutral,False,0.042,,-0.03363,,,0.00872,,Uncertain,Uncertain,Neutral,53.2,,True,53.2,,neutral,neutral,neutral,-,-,uncertain,neutral,1390904,Uncertain significance,1,91.35,H,-0.0331,2.2499,-7.1832,loss_of_function,-0.450608315984691,0.9176807683948114,,,0.119,benign,-0.094176291,destabilizing,-0.050218279,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507N,NP_000240:p.Leu507Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50248,1.72483,1.585593551359569,Neutral,Neutral,False,0.042,,-0.1612,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2116,2.2499,-8.768,loss_of_function,-2.20561678463723,0.7010232707269383,,,0.4786,ambiguous,-0.161938671,destabilizing,-0.157492161,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507P,NP_000240:p.Leu507Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.78954,9.79932,6.124946054869633,Destabilizing,Destabilizing,False,0.042,,0.34747,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.2271,2.2499,-8.768,loss_of_function,-4.433984131763,0.4259291603926759,,,0.9159,pathogenic,0.192644653,stabilizing,-1.087188569,damaging,https://doi.org/10.1101/2022.10.22.513328 +L507Q,NP_000240:p.Leu507Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45516,0.95204,1.3720700792048806,Neutral,Neutral,False,0.042,,-0.02949,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.1405,2.2499,-4.0677,loss_of_function,-1.43299110726455,0.7964046599814487,,,0.126,benign,0.014294991,neutral,-0.025075735,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507R,NP_000240:p.Leu507Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2695,0.67211,0.8615707943327022,Neutral,Neutral,False,0.042,,0.00797,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,H,-0.1987,2.2499,-3.814,loss_of_function,-0.619693799408966,0.8968070014671836,,,0.1159,benign,-0.152310557,destabilizing,-0.143177824,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507S,NP_000240:p.Leu507Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97538,1.91939,1.8536257958659508,Neutral,Neutral,False,0.042,,0.01153,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.166,2.2499,-7.1832,loss_of_function,-2.53009695692684,0.6609658787389194,,,0.3301,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L507T,NP_000240:p.Leu507Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09903,1.53537,1.3519907408291345,Neutral,Neutral,False,0.042,,-0.037,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.1337,2.2499,-6.1832,loss_of_function,-2.06429319385505,0.718469805081165,,,0.2673,benign,-0.108950729,destabilizing,-0.586451351,damaging,https://doi.org/10.1101/2022.10.22.513328 +L507V,NP_000240:p.Leu507Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78804,0.6398,0.7696401715361001,Neutral,Neutral,False,0.042,,-0.03825,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,H,-0.0372,2.2499,-5.4462,loss_of_function,-1.69583374527562,0.763956481383414,,,0.1051,benign,-0.05848625,neutral,-0.000485675,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507W,NP_000240:p.Leu507Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22849,1.36395,0.5973846235883048,Neutral,Neutral,False,0.042,,-0.05017,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,H,-0.2442,2.2499,-22.0559,loss_of_function,-3.80409392833043,0.5036897169477037,,,0.2863,benign,0.575310182,stabilizing,-0.092734748,neutral,https://doi.org/10.1101/2022.10.22.513328 +L507Y,NP_000240:p.Leu507Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96305,0.6949,0.9361933238470248,Neutral,Neutral,False,0.042,,-0.04446,,,,,Uncertain,Uncertain,Uncertain,53.2,,True,53.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,H,-0.1692,2.2499,-8.768,loss_of_function,-3.80409392833043,0.5036897169477037,,,0.4123,ambiguous,0.24834198,stabilizing,-0.224883018,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508A,NP_000240:p.Ser508Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.016,-0.28776,-0.3446966483266706,Neutral,Neutral,False,0.041,,0.00019,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,-,-,uncertain,neutral,,,,93.22,H,0.0763,2.9465,-5.4462,gain_of_function,-0.358954713212482,0.9289954945534368,,,0.0725,benign,0.115025894,stabilizing,-0.203321693,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508C,NP_000240:p.Ser508Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85376,0.6568,0.5277284662090281,Neutral,Neutral,False,0.041,,0.01881,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,0.014,2.9465,-7.7681,gain_of_function,-0.25727241641495,0.9415482727164901,,,0.0663,benign,0.139800381,stabilizing,-0.14525216,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508D,NP_000240:p.Ser508Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94694,0.23571,0.7383728519164425,Neutral,Neutral,False,0.041,,-0.03336,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0173,2.9465,-4.4463,loss_of_function,-0.433682624796878,0.9197702613884641,,,0.1807,benign,0.109415745,neutral,-0.03237581,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508E,NP_000240:p.Ser508Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64664,-0.34422,0.1269438603285971,Neutral,Neutral,False,0.041,,0.0019,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,0.0231,2.9465,-1.7909,gain_of_function,-0.391496274708025,0.9249782072241951,,,0.2451,benign,0.163586821,stabilizing,0.335860024,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508F,NP_000240:p.Ser508Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06013,0.3102,-0.6920840803491501,Neutral,Neutral,False,0.041,,0.02404,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0865,2.9465,-22.0559,loss_of_function,-2.88215425011744,0.6175040644281525,,,0.1281,benign,0.258991006,stabilizing,0.222183679,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508G,NP_000240:p.Ser508Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25072,0.92075,0.9157045536772368,Neutral,Neutral,False,0.041,,-0.00571,,,0.06141,,Uncertain,Uncertain,Neutral,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,DOWN,-,neutral,neutral,2009614,Uncertain significance,1,93.22,H,0.0604,2.9465,-6.7682,gain_of_function,-2.33796506068439,0.6846847476820608,,,0.0741,benign,0.217041022,stabilizing,0.137922193,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508H,NP_000240:p.Ser508His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09288,0.40136,-0.3831109741287181,Neutral,Neutral,False,0.041,,0.11923,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0118,2.9465,-7.1832,loss_of_function,-2.08168197655933,0.716323142990644,,,0.1361,benign,-0.068280231,neutral,-0.232903865,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508I,NP_000240:p.Ser508Ile,"hg38,3:g.37028897G>T",,,0.558,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15178,-0.20136,-0.6428136892461433,Neutral,Neutral,False,0.041,,0.04402,,,-0.12253,,Uncertain,Uncertain,Neutral,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0218,2.9465,-8.768,loss_of_function,-2.11390216369094,0.7123455296383365,,,0.1243,benign,0.180398396,stabilizing,0.294380053,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508K,NP_000240:p.Ser508Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06222,0.19014,-0.2844458580457798,Neutral,Neutral,False,0.041,,0.06122,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0075,2.9465,-4.5203,loss_of_function,-1.21992713606522,0.8227076138803943,,,0.2575,benign,-0.140057852,destabilizing,0.02077979,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508L,NP_000240:p.Ser508Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26683,-0.24422,-1.0745734693735405,Neutral,Neutral,False,0.041,,0.07923,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.013,2.9465,-7.7681,loss_of_function,-2.54292013588007,0.6593828448597226,,,0.0835,benign,0.05825398,neutral,0.079633569,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508M,NP_000240:p.Ser508Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24315,0.23707,-0.6333065934070875,Neutral,Neutral,False,0.041,,0.0226,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0569,2.9465,-22.0559,loss_of_function,-2.7180068225009,0.6377682235768106,,,0.1316,benign,0.312226477,stabilizing,-0.100567714,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508N,NP_000240:p.Ser508Asn,"hg19,3:g.37070388G>A, hg38,3:g.37028897G>A",,,0.390,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74898,0.35986,0.08504052399533,Neutral,Neutral,False,0.041,,0.06353,,,0.00221,,Uncertain,Uncertain,Neutral,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,0.0651,2.9465,-3.2763,gain_of_function,-0.131346828745111,0.957093908651712,,,0.0751,benign,0.07129376,neutral,0.077176999,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508P,NP_000240:p.Ser508Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83371,6.80034,8.014307578452664,Uncertain,Uncertain,False,0.041,,0.46886,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,uncertain,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0941,2.9465,-8.768,loss_of_function,-3.22035343402325,0.5757530471498099,,,0.7309,pathogenic,-0.014425698,neutral,-0.144653399,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508Q,NP_000240:p.Ser508Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45806,-0.44422,-0.0954683047724219,Neutral,Neutral,False,0.041,,0.00933,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,0.0432,2.9465,-3.7238,gain_of_function,-0.971211717817731,0.853411773496383,,,0.2175,benign,0.052553081,neutral,-0.059243009,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508R,NP_000240:p.Ser508Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16312,0.45306,-0.8457544742128409,Neutral,Neutral,False,0.041,,0.06899,,,0.20459,,Uncertain,Uncertain,Neutral,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,"2718888, 344908","Uncertain significance, Uncertain significance","1, 2",93.22,H,-0.0168,2.9465,-5.3087,loss_of_function,-0.519350451525679,0.9091944850881039,,,0.1971,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S508T,NP_000240:p.Ser508Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10023,-0.09184,0.052992733098261,Neutral,Neutral,False,0.041,,0.02844,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,neutral,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,0.1006,2.9465,-2.5203,gain_of_function,-0.0584115685589413,0.9660978372628504,,,0.059,benign,0.061134446,neutral,0.037012048,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508V,NP_000240:p.Ser508Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69963,0.02279,-0.3844175036456876,Neutral,Neutral,False,0.041,,0.04775,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0639,2.9465,-22.0559,loss_of_function,-2.21385896037148,0.7000057661383179,,,0.1407,benign,0.110430594,stabilizing,0.136169276,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508W,NP_000240:p.Ser508Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17181,0.05578,-1.3080348201490848,Neutral,Neutral,False,0.041,,-0.03027,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,damaging,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0962,2.9465,-22.0559,loss_of_function,-2.88215425011744,0.6175040644281525,,,0.2019,benign,0.296292263,stabilizing,-0.063052131,neutral,https://doi.org/10.1101/2022.10.22.513328 +S508Y,NP_000240:p.Ser508Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0645,0.07551,-0.4678456031252925,Neutral,Neutral,False,0.041,,-0.00236,,,,,Uncertain,Uncertain,Uncertain,40.2,P,True,40.2,1.192,uncertain,neutral,potentially_damaging,UP,-,neutral,neutral,,,,93.22,H,-0.0184,2.9465,-7.7681,loss_of_function,-2.27934975089841,0.691920864527131,,,0.104,benign,0.180877306,stabilizing,-0.044374796,neutral,https://doi.org/10.1101/2022.10.22.513328 +L509A,NP_000240:p.Leu509Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39057,2.53639,3.301249427103851,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4018,0.182,-22.0493,loss_of_function,-4.89620401468924,0.3688676675304651,,,0.7568,pathogenic,0.150847661,stabilizing,-0.532641028,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509C,NP_000240:p.Leu509Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67171,2.70748,3.44625139201906,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.391,0.182,-22.0493,loss_of_function,-4.13764734732322,0.46251222385388013,,,0.7736,pathogenic,0.075845393,neutral,-0.732840878,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509D,NP_000240:p.Leu509Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.03816,4.28027,4.5066034626879565,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.5233,0.182,-22.0493,loss_of_function,-5.73733562242041,0.26502915472812594,,,0.9895,pathogenic,0.547970051,stabilizing,-1.11789193,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509E,NP_000240:p.Leu509Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.59263,4.51973,4.109866119826091,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4914,0.182,-22.0493,loss_of_function,-5.57345295027781,0.28526062955673537,,,0.9001,pathogenic,0.402729646,stabilizing,-1.043813549,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509F,NP_000240:p.Leu509Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.50013,2.67415,1.8305172521188424,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,UP,-,neutral,neutral,89760,Uncertain significance,2,92.36,H,-0.3353,0.182,-22.0493,loss_of_function,-5.73733562242041,0.26502915472812594,,,0.4214,ambiguous,0.164137888,stabilizing,-0.652078488,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509G,NP_000240:p.Leu509Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.97907,4.49864,5.305517613281165,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4766,0.182,-22.0493,loss_of_function,-6.18682770606992,0.20953892103153754,,,0.9377,pathogenic,0.376992896,stabilizing,-0.97536626,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509H,NP_000240:p.Leu509His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64026,3.17347,2.960055395553304,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.3764,0.182,-8.7614,loss_of_function,-5.73733562242041,0.26502915472812594,,,0.7448,pathogenic,0.333863403,stabilizing,-0.96237499,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509I,NP_000240:p.Leu509Ile,"hg19,3:g.37070390C>A, hg38,3:g.37028899C>A",,,0.635,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13871,0.44048,1.4118855860376152,Neutral,Neutral,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.36,H,-0.1979,0.182,-6.7615,loss_of_function,-0.826887855697399,0.8712286942573191,,,0.1798,benign,0.099162893,neutral,0.045942138,neutral,https://doi.org/10.1101/2022.10.22.513328 +L509K,NP_000240:p.Leu509Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12118,3.67007,4.882626754160911,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.36,H,-0.4904,0.182,-22.0493,loss_of_function,-5.49418380373371,0.29504648258210486,,,0.7929,pathogenic,0.097616076,neutral,-0.930313689,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509M,NP_000240:p.Leu509Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.83765,1.79728,1.6496940639523685,Neutral,Neutral,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.36,H,-0.2233,0.182,-7.1765,loss_of_function,-2.42772375524516,0.6736039497800413,,,0.1731,benign,0.061095041,neutral,-0.254551414,neutral,https://doi.org/10.1101/2022.10.22.513328 +L509N,NP_000240:p.Leu509Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42307,3.10816,3.206689468777877,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4696,0.182,-22.0493,loss_of_function,-5.12663454203986,0.34042079543052317,,,0.9376,pathogenic,0.238312526,stabilizing,-1.097811135,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509P,NP_000240:p.Leu509Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.57746,8.93741,7.038481248488338,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4174,0.182,-8.7614,loss_of_function,-6.18682770606992,0.20953892103153754,,,0.9858,pathogenic,0.437519291,stabilizing,-1.077819818,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509Q,NP_000240:p.Leu509Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.02757,2.57619,2.9623360066597835,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4226,0.182,-22.0493,loss_of_function,-5.73733562242041,0.26502915472812594,,,0.5806,pathogenic,0.085721958,neutral,-0.950900593,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509R,NP_000240:p.Leu509Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.04398,4.01837,3.9734206292830585,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.36,H,-0.482,0.182,-22.0493,loss_of_function,-4.83129934162996,0.3768802123717852,,,0.6484,pathogenic,0.148526339,stabilizing,-0.906728538,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509S,NP_000240:p.Leu509Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.24786,3.75374,4.372339592755821,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4322,0.182,-22.0493,loss_of_function,-5.24965356728967,0.32523397744517846,,,0.8416,pathogenic,0.045108526,neutral,-0.472079308,neutral,https://doi.org/10.1101/2022.10.22.513328 +L509T,NP_000240:p.Leu509Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3453,2.6398,3.1850340585117776,Uncertain,Uncertain,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.4049,0.182,-22.0493,loss_of_function,-5.0986006050932,0.3438816121371831,,,0.7696,pathogenic,0.216853343,stabilizing,-0.901191014,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509V,NP_000240:p.Leu509Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05771,1.66667,1.8042246420786483,Neutral,Neutral,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.36,H,-0.3122,0.182,-22.0493,loss_of_function,-2.72113398322886,0.6373821725518574,,,0.2328,benign,0.164673305,stabilizing,-0.763749153,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509W,NP_000240:p.Leu509Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.17457,2.96701,3.175023601616878,Uncertain,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.36,H,-0.4344,0.182,-22.0493,loss_of_function,-5.73733562242041,0.26502915472812594,,,0.6923,pathogenic,0.489515136,stabilizing,-0.96059472,damaging,https://doi.org/10.1101/2022.10.22.513328 +L509Y,NP_000240:p.Leu509Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.62076,3.14184,3.0163186175852235,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,1.5,,True,1.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.36,H,-0.4273,0.182,-22.0493,loss_of_function,-5.00922426028466,0.3549152085914421,,,0.8196,pathogenic,0.432108299,stabilizing,-1.032167423,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510A,NP_000240:p.Gln510Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1091,1.34592,1.129729907701695,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.0705,1.6578,-7.1799,loss_of_function,-2.52769818063408,0.6612620099988747,,,0.3241,benign,0.154266694,stabilizing,-0.04402386,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510C,NP_000240:p.Gln510Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29959,1.34558,1.4047558266252536,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.1167,1.6578,-7.1799,loss_of_function,-3.19310288624297,0.5791171537040577,,,0.4838,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q510D,NP_000240:p.Gln510Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.06165,3.12041,2.2077896767380025,Destabilizing,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.2329,1.6578,-22.0526,loss_of_function,-2.04096346815131,0.7213498823471917,,,0.7919,pathogenic,0.196220393,stabilizing,-0.982437748,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510E,NP_000240:p.Gln510Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87767,1.62891,1.394453772094922,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.1515,1.6578,-22.0526,loss_of_function,-2.88453964146645,0.6172095855524854,,,0.1446,benign,0.120022583,stabilizing,-0.325807737,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510F,NP_000240:p.Gln510Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08926,2.8415,0.1377788460075596,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.1328,1.6578,-8.7647,loss_of_function,-2.88819543396648,0.6167582744225409,,,0.8044,pathogenic,0.161113531,stabilizing,-0.690346996,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510G,NP_000240:p.Gln510Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45026,3.06429,2.606289385001333,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.217,1.6578,-22.0526,loss_of_function,-4.43928600762328,0.4252746386753444,,,0.3264,benign,0.105442693,neutral,-0.570540528,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510H,NP_000240:p.Gln510His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.54174,1.65374,0.956622639896473,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.0797,1.6578,-8.7647,loss_of_function,-1.79567411201468,0.7516310912725985,,,0.3194,benign,0.191967636,stabilizing,-0.404841973,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510I,NP_000240:p.Gln510Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10192,0.26633,0.2015944208817988,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.0989,1.6578,-5.7649,loss_of_function,-2.15490635785407,0.7072835220982291,,,0.4819,ambiguous,0.226667658,stabilizing,-0.214752046,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510K,NP_000240:p.Gln510Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.56517,0.97483,1.1055600309211706,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.0918,1.6578,-4.858,loss_of_function,-1.86905454741595,0.742572205349373,,,0.0938,benign,-0.075077271,neutral,-0.16464222,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510L,NP_000240:p.Gln510Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59047,0.88741,-0.1218118697725667,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.0792,1.6578,-5.1799,loss_of_function,-1.94998102006463,0.732581753808924,,,0.1945,benign,0.176384,stabilizing,-0.144262152,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510M,NP_000240:p.Gln510Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.18796,0.31327,0.2082891755504723,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.1363,1.6578,-22.0526,loss_of_function,-2.7023652089164,0.6396991959448856,,,0.469,ambiguous,0.140406614,stabilizing,-0.06258172,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510N,NP_000240:p.Gln510Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.50641,2.20816,1.432362369505061,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.162,1.6578,-22.0526,loss_of_function,-2.43144856110516,0.6731441188838714,,,0.5898,pathogenic,-0.041023365,neutral,-0.612697403,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510P,NP_000240:p.Gln510Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.39657,7.6466,6.980886147080693,Destabilizing,Destabilizing,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.2522,1.6578,-8.7647,loss_of_function,-2.87068566321042,0.6189198726054026,,,0.6737,pathogenic,1.008416728,stabilizing,-1.005863483,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q510R,NP_000240:p.Gln510Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.92331,0.09796,0.5317814394382658,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.0697,1.6578,-0.8049,loss_of_function,-0.195906279210533,0.949123981874441,,,0.0683,benign,-0.050128806,neutral,-0.138698131,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510S,NP_000240:p.Gln510Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44815,2.39796,1.897611266021637,Uncertain,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.097,1.6578,-8.7647,loss_of_function,-2.01579083341065,0.7244574685212949,,,0.4581,ambiguous,0.160980496,stabilizing,-0.451728618,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510T,NP_000240:p.Gln510Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63336,1.92619,1.351290393155435,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.13,H,-0.1069,1.6578,-8.7647,loss_of_function,-2.81936515873303,0.6252554386597711,,,0.3322,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q510V,NP_000240:p.Gln510Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49391,0.63265,0.4712817327934504,Neutral,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.13,H,-0.1092,1.6578,-7.7648,loss_of_function,-3.40067106703099,0.5534926604618495,,,0.343,ambiguous,0.134414366,stabilizing,-0.289826182,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510W,NP_000240:p.Gln510Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.68742,0.88265,0.0202743409060002,Uncertain,Uncertain,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.2,1.6578,-22.0526,loss_of_function,-2.82422048834822,0.6246560435095087,,,0.4537,ambiguous,0.206053855,stabilizing,-0.091072122,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q510Y,NP_000240:p.Gln510Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.7688,2.98095,0.5487431608038013,Uncertain,Neutral,False,0.042,,,,,,,Uncertain,Uncertain,Uncertain,25.6,,True,25.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.13,H,-0.1351,1.6578,-8.7647,loss_of_function,-3.74397817754378,0.51111106468961,,,0.5631,ambiguous,0.082838132,neutral,-0.339383716,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511A,NP_000240:p.Glu511Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3027,-0.15306,0.2332266710731073,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.051,2.9431,-2.4762,gain_of_function,-0.710437271130517,0.8856046318695135,,,0.1103,benign,0.065111268,neutral,-0.206311746,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511C,NP_000240:p.Glu511Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39165,0.49796,1.0490346582826595,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,-0.0504,2.9431,-8.7614,loss_of_function,-2.76003462956131,0.6325798500317145,,,0.6043,pathogenic,0.112053029,stabilizing,-0.110516859,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511D,NP_000240:p.Glu511Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36179,0.3381,0.4676604805019152,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.0756,2.9431,-4.3692,gain_of_function,-0.348999752135331,0.930224444153898,,,0.1194,benign,0.006355545,neutral,0.06689795,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511F,NP_000240:p.Glu511Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.80805,0.10714,-0.2856804895018483,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.028,2.9431,-8.7614,loss_of_function,-3.46647224588605,0.545369441110504,,,0.63,pathogenic,0.32048371,stabilizing,-0.192421612,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511G,NP_000240:p.Glu511Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52621,0.70136,0.9734454267241618,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.0034,2.9431,-6.7615,gain_of_function,-2.6729660168254,0.6433285547232985,,,0.087,benign,-0.079108757,neutral,-0.093238615,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511H,NP_000240:p.Glu511His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01832,-0.02347,-0.0538172916461238,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.0113,2.9431,-7.1765,loss_of_function,-2.36880158934522,0.6808779483100049,,,0.2501,benign,0.138442994,stabilizing,-0.018763256,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511I,NP_000240:p.Glu511Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.53023,-0.48299,-0.3441364899816118,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.0283,2.9431,-7.7615,loss_of_function,-1.79039161863352,0.7522832202040833,,,0.324,benign,0.401542855,stabilizing,-0.326941647,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511K,NP_000240:p.Glu511Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55252,-0.35646,0.0070386457202692,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,1774643,Uncertain significance,2,91.88,H,0.0259,2.9431,-3.0891,gain_of_function,-0.738080135853708,0.8821920934081485,,,0.0701,benign,-0.05092216,neutral,-0.089624919,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511L,NP_000240:p.Glu511Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45628,-0.28469,-0.5550300928806934,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.0179,2.9431,-5.3021,loss_of_function,-1.74975067193805,0.7573003844919881,,,0.2853,benign,0.239924691,stabilizing,-0.072292961,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511M,NP_000240:p.Glu511Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.86394,0.11871,-0.2243897100261993,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,0.0207,2.9431,-7.7615,gain_of_function,-1.81259373910921,0.7495423468971432,,,0.3114,benign,0.042933372,neutral,-0.293905143,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511N,NP_000240:p.Glu511Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07611,-0.00238,0.3511372983874999,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.0131,2.9431,-4.7615,gain_of_function,-0.538566161581647,0.906822287044049,,,0.1524,benign,0.112452974,stabilizing,-0.191875865,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511P,NP_000240:p.Glu511Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70747,7.79422,6.388097449105344,Uncertain,Uncertain,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,-0.2058,2.9431,-22.0493,loss_of_function,-3.86896430111665,0.4956814065083612,,,0.8777,pathogenic,0.545705646,stabilizing,-1.098536702,damaging,https://doi.org/10.1101/2022.10.22.513328 +E511Q,NP_000240:p.Glu511Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49489,-0.11633,0.2022177733685198,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,0.0722,2.9431,-3.7172,gain_of_function,-0.364975932935006,0.9282521691386072,,,0.0852,benign,0.107757161,neutral,-0.066365163,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511R,NP_000240:p.Glu511Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.83138,0.00238,-0.3272063931937541,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.0441,2.9431,-4.9542,loss_of_function,-0.891358072842245,0.8632697834200221,,,0.1147,benign,0.090013377,neutral,-0.111486316,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511S,NP_000240:p.Glu511Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22735,0.12789,0.6999691794641927,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.0289,2.9431,-4.1766,gain_of_function,-0.748879404502859,0.8808589132190154,,,0.1347,benign,0.20967903,stabilizing,-0.112160892,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511T,NP_000240:p.Glu511Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24535,-0.1983,0.323483028039227,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.88,H,0.0058,2.9431,-5.5916,gain_of_function,-0.660231145397615,0.8918026267870199,,,0.1538,benign,0.067065873,neutral,0.024122038,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511V,NP_000240:p.Glu511Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0044,-0.3983,-0.1131160097497852,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.88,H,0.0138,2.9431,-7.1765,gain_of_function,-1.12554761186034,0.8343588576838007,,,0.1921,benign,0.229737438,stabilizing,-0.063709821,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511W,NP_000240:p.Glu511Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.761,-0.49388,-0.9001410297572576,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.1059,2.9431,-22.0493,loss_of_function,-3.46647224588605,0.545369441110504,,,0.7021,pathogenic,0.580916879,stabilizing,0.06295886,neutral,https://doi.org/10.1101/2022.10.22.513328 +E511Y,NP_000240:p.Glu511Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.65373,-0.18639,-0.1867515459673085,Neutral,Neutral,False,0.034,,,,,,,Uncertain,Uncertain,Uncertain,84.5,,True,84.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.88,H,-0.0289,2.9431,-8.7614,loss_of_function,-3.46647224588605,0.545369441110504,,,0.4348,ambiguous,0.243652967,stabilizing,-0.112252831,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512A,NP_000240:p.Glu512Ala,"hg19,3:g.37070400A>C",,,0.525,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49636,0.3619,0.0652507142200009,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.0195,2.2123,-3.1144,loss_of_function,-1.27561374225651,0.8158330483346881,,,0.1053,benign,0.079478642,neutral,0.040258927,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512C,NP_000240:p.Glu512Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19614,0.96565,0.7775975068525959,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.1855,2.2123,-22.0459,loss_of_function,-3.43725053196482,0.5489768900367199,,,0.5792,pathogenic,0.059981916,neutral,-0.042716959,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512D,NP_000240:p.Glu512Asp,"hg19,3:g.37070401A>C",,,0.638,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45373,0.15476,0.2231937342530598,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,0.013,2.2123,-3.4728,gain_of_function,-0.49819399617044,0.9118062700217159,,,0.1091,benign,0.085847193,neutral,-0.044176067,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512F,NP_000240:p.Glu512Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71997,0.2449,-0.1672253842476451,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.1631,2.2123,-22.0459,loss_of_function,-3.5264252421408,0.5379681855734192,,,0.5281,ambiguous,0.176293673,stabilizing,-0.374641269,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512G,NP_000240:p.Glu512Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34319,1.7517,0.9389553553357168,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.0622,2.2123,-6.4363,loss_of_function,-2.94040993630746,0.6103123434648086,,,0.0996,benign,0.010334991,neutral,-0.115773614,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512H,NP_000240:p.Glu512His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3191,0.33027,-0.1132495169202035,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.0785,2.2123,-7.1732,loss_of_function,-2.27814236403777,0.6920699176061422,,,0.2679,benign,0.108532481,neutral,-0.028580286,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512I,NP_000240:p.Glu512Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63788,0.29694,-0.4565566083386557,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.0925,2.2123,-7.1732,loss_of_function,-2.50333610888256,0.6642695313857898,,,0.2071,benign,0.008356362,neutral,-0.240460726,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512K,NP_000240:p.Glu512Lys,"hg19,3:g.37070399G>A",,,0.463,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74481,0.31667,-0.0215996541161034,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.0533,2.2123,-5.4363,loss_of_function,-1.09908258392388,0.8376259910514398,,,0.0778,benign,-0.007749883,neutral,-0.092252859,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512L,NP_000240:p.Glu512Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67207,-0.07959,-0.6337914944377343,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.0947,2.2123,-7.1732,loss_of_function,-2.3159531394849,0.6874021407038764,,,0.2551,benign,0.127341704,stabilizing,-0.439504335,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512M,NP_000240:p.Glu512Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.17123,-0.28946,-0.2374029421943513,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.1194,2.2123,-22.0459,loss_of_function,-2.51807989748435,0.6624493963826462,,,0.2525,benign,-0.049023049,neutral,0.025052905,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512N,NP_000240:p.Glu512Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39508,1.16701,0.1613851961688195,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.0592,2.2123,-5.7582,loss_of_function,-1.75639236468743,0.7564804610801857,,,0.1545,benign,0.013260326,neutral,0.063661033,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512P,NP_000240:p.Glu512Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.56262,9.93095,6.719047321100458,Uncertain,Uncertain,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.2731,2.2123,-22.0459,loss_of_function,-4.43625218794823,0.4256491666567829,,,0.8812,pathogenic,0.169080754,stabilizing,-0.960214468,damaging,https://doi.org/10.1101/2022.10.22.513328 +E512Q,NP_000240:p.Glu512Gln,"hg19,3:g.37070399G>C",,,0.427,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7922,0.33639,0.1236681705263564,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.0004,2.2123,-4.7582,loss_of_function,-0.572644221519147,0.9026153174918717,,,0.0956,benign,-0.058412865,neutral,-0.047609237,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512R,NP_000240:p.Glu512Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82058,1.30408,-0.1996505926621783,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.1125,2.2123,-5.1733,loss_of_function,-2.34288593131538,0.6840772614298286,,,0.143,benign,-0.095556696,destabilizing,-0.179660036,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512S,NP_000240:p.Glu512Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42326,1.05204,0.5477447846835493,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.0434,2.2123,-5.1733,loss_of_function,-1.18693245245323,0.8267808395744021,,,0.1408,benign,0.055471606,neutral,-0.116218054,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512T,NP_000240:p.Glu512Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02727,0.5,0.2053277357940741,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.56,H,-0.0644,2.2123,-6.1732,loss_of_function,-1.57842217542413,0.7784510535610694,,,0.1388,benign,-0.033488243,neutral,-0.099267355,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512V,NP_000240:p.Glu512Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17699,0.28503,-0.2380967030835823,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.56,H,-0.0497,2.2123,-6.4363,loss_of_function,-1.15474988769293,0.8307538084084809,,,0.1366,benign,0.000179271,neutral,-0.219517313,neutral,https://doi.org/10.1101/2022.10.22.513328 +E512W,NP_000240:p.Glu512Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.76264,-0.1068,-0.6640379448189743,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.1054,2.2123,-8.7581,loss_of_function,-2.63217749873279,0.6483639368433122,,,0.695,pathogenic,0.149784958,stabilizing,-0.652795842,damaging,https://doi.org/10.1101/2022.10.22.513328 +E512Y,NP_000240:p.Glu512Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60218,0.17721,-0.0734229906333572,Neutral,Neutral,False,0.025,,,,,,,Uncertain,Uncertain,Uncertain,50.8,,True,50.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,H,-0.1639,2.2123,-22.0459,loss_of_function,-3.69144349226788,0.5175965225412092,,,0.369,ambiguous,0.187276387,stabilizing,-0.298083021,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513A,NP_000240:p.Ile513Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05295,2.65884,2.9796776844548183,Uncertain,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.2096,1.4525,-5.9608,loss_of_function,-2.82764287261771,0.624233546852011,,,0.5094,ambiguous,0.150212869,stabilizing,-0.373011631,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513C,NP_000240:p.Ile513Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07335,2.55714,3.021670596388537,Uncertain,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.1988,1.4525,-7.7681,loss_of_function,-3.64098635400786,0.5238255051986497,,,0.6972,pathogenic,0.067120279,neutral,0.059575488,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513D,NP_000240:p.Ile513Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.08098,4.25986,4.108717024268992,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.4158,1.4525,-22.0559,loss_of_function,-3.26890724117976,0.5697590325631712,,,0.8864,pathogenic,0.753456782,stabilizing,-1.118951531,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513E,NP_000240:p.Ile513Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.85826,4.46735,3.3319799980739844,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3967,1.4525,-22.0559,loss_of_function,-4.00800771277511,0.4785163624785422,,,0.7414,pathogenic,0.617447045,stabilizing,-1.012768454,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513F,NP_000240:p.Ile513Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.92009,3.57007,1.1457640798241877,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,H,-0.1747,1.4525,-6.7682,loss_of_function,-2.99957081318856,0.6030088758326908,,,0.2682,benign,0.192272918,stabilizing,-0.888874147,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513G,NP_000240:p.Ile513Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.52824,4.26871,4.5828986431228005,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3824,1.4525,-22.0559,loss_of_function,-5.02059154678343,0.35351190604784355,,,0.7643,pathogenic,0.463909559,stabilizing,-1.038297069,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513H,NP_000240:p.Ile513His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.07537,3.51599,2.3828140574384054,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3823,1.4525,-22.0559,loss_of_function,-4.36527196510133,0.43441174401216426,,,0.7178,pathogenic,0.276549286,stabilizing,-1.016048899,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513K,NP_000240:p.Ile513Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96254,4.06871,3.5555436473638125,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.87,H,-0.3892,1.4525,-22.0559,loss_of_function,-4.73086551401587,0.389278865803231,,,0.5066,ambiguous,0.220844401,stabilizing,-0.780009172,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513L,NP_000240:p.Ile513Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38616,1.28333,0.686389427154109,Neutral,Neutral,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.87,H,-0.0921,1.4525,-5.4462,loss_of_function,-1.82663604290485,0.7478088108737009,,,0.1506,benign,0.129646102,stabilizing,-0.34660587,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513M,NP_000240:p.Ile513Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93124,1.97381,1.4468633892693743,Neutral,Neutral,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.87,H,-0.1096,1.4525,-7.7681,loss_of_function,-0.677175614418437,0.8897108156516692,,,0.0992,benign,0.12465257,stabilizing,-0.679546874,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513N,NP_000240:p.Ile513Asn,"hg19,3:g.37070403T>A",,,0.821,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.55583,3.31224,2.9465120297636185,Uncertain,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3288,1.4525,-22.0559,loss_of_function,-3.36547046628585,0.5578382087655015,,,0.4295,ambiguous,0.217213019,stabilizing,-0.858805198,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513P,NP_000240:p.Ile513Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.98406,10.37823,8.573968543711938,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.4358,1.4525,-22.0559,loss_of_function,-5.02059154678343,0.35351190604784355,,,0.9612,pathogenic,0.510439821,stabilizing,-1.059058003,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513Q,NP_000240:p.Ile513Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.66649,3.43776,2.7145422345959025,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3564,1.4525,-22.0559,loss_of_function,-4.19369901215859,0.4555925914644858,,,0.624,pathogenic,0.315393161,stabilizing,-1.020850559,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513R,NP_000240:p.Ile513Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.4193,4.6,2.462670413452822,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,H,-0.416,1.4525,-22.0559,loss_of_function,-3.83059910157124,0.500417627603305,,,0.415,ambiguous,0.059158324,neutral,-0.516254806,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513S,NP_000240:p.Ile513Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.88687,3.52041,3.847982789274572,Destabilizing,Destabilizing,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.3323,1.4525,-22.0559,loss_of_function,-3.15558202292721,0.5837491406725152,,,0.5244,ambiguous,0.191174239,stabilizing,-0.64547849,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513T,NP_000240:p.Ile513Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12316,2.3966,2.6690820416455097,Uncertain,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,230656,Uncertain significance,2,90.87,H,-0.1711,1.4525,-6.7682,loss_of_function,-1.48304034804143,0.7902260326639287,,,0.4076,ambiguous,-0.037676807,neutral,-0.291971333,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513V,NP_000240:p.Ile513Val,"hg19,3:g.37070402A>G, hg38,3:g.37028911A>G",,,0.394,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31699,1.19014,1.3176468912498822,Neutral,Neutral,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,H,-0.0318,1.4525,-1.4283,loss_of_function,-0.332679977741317,0.9322391361316672,,,0.1051,benign,-0.044500113,neutral,0.034860026,neutral,https://doi.org/10.1101/2022.10.22.513328 +I513W,NP_000240:p.Ile513Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.39688,5.81156,1.5011282137997437,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,H,-0.2687,1.4525,-7.7681,loss_of_function,-4.36527196510133,0.43441174401216426,,,0.8055,pathogenic,0.512604934,stabilizing,-1.048181142,damaging,https://doi.org/10.1101/2022.10.22.513328 +I513Y,NP_000240:p.Ile513Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.10894,5.13027,1.7887839141173494,Destabilizing,Uncertain,False,0.036,,,,,,,,,,8.6,,False,8.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,H,-0.3504,1.4525,-22.0559,loss_of_function,-4.36527196510133,0.43441174401216426,,,0.6499,pathogenic,0.322065408,stabilizing,-0.991502038,damaging,https://doi.org/10.1101/2022.10.22.513328 +N514A,NP_000240:p.Asn514Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.32925,-0.14966,0.0796091872111326,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.95,H,0.0717,3.4011,-5.071,gain_of_function,-0.351250689321333,0.9299465637750636,,,0.085,benign,0.150814666,stabilizing,0.006721624,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514C,NP_000240:p.Asn514Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28497,0.40068,0.6165936395913757,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.95,H,0.0147,3.4011,-6.4495,gain_of_function,-0.399460308427354,0.9239950395370915,,,0.0952,benign,0.086511748,neutral,-0.065146043,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514D,NP_000240:p.Asn514Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04158,0.14966,0.402316819114506,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,-,-,uncertain,neutral,3069298,Uncertain significance,1,90.95,H,0.0741,3.4011,-3.9641,gain_of_function,-0.0511645191120319,0.9669924925461085,,,0.073,benign,0.000971668,neutral,-0.120812874,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514E,NP_000240:p.Asn514Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1566,-0.17585,0.0217392589603765,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0521,3.4011,-2.9641,gain_of_function,-0.24317666446194,0.9432884069668,,,0.1232,benign,0.184218986,stabilizing,0.035573833,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514F,NP_000240:p.Asn514Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.64585,-0.79524,-0.5496477853853732,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0007,3.4011,-7.7714,gain_of_function,-1.91496317304158,0.7369047409883281,,,0.2295,benign,0.276630438,stabilizing,0.021464423,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514G,NP_000240:p.Asn514Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49787,0.96531,0.8668645965540567,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.95,H,0.0301,3.4011,-7.1865,gain_of_function,-0.990404335582587,0.8510424262180634,,,0.1104,benign,0.058039798,neutral,0.064154255,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514H,NP_000240:p.Asn514His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05638,-0.07925,-0.2689590273657577,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,663969,Uncertain significance,1,90.95,H,0.0529,3.4011,-7.7714,gain_of_function,-1.90910173802614,0.7376283408260902,,,0.0547,benign,-0.026054261,neutral,-0.034378565,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514I,NP_000240:p.Asn514Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.73398,-0.51939,-0.4052792156050366,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0168,3.4011,-5.9641,gain_of_function,-1.4640831865615,0.792566312635501,,,0.0929,benign,0.126888927,stabilizing,0.031094198,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514K,NP_000240:p.Asn514Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.88765,-0.72449,-0.0847752850551969,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1774878,Uncertain significance,2,90.95,H,0.0757,3.4011,-3.6422,gain_of_function,-0.728885549305945,0.8833271740354566,,,0.0836,benign,-0.053001014,neutral,-0.016820485,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514L,NP_000240:p.Asn514Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.99667,-0.73401,-0.8277113142265435,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.013,3.4011,-5.4496,gain_of_function,-1.32910188304448,0.809229885475351,,,0.1047,benign,0.195785937,stabilizing,0.168693668,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514M,NP_000240:p.Asn514Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.08353,-0.12517,-0.4157267433206479,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0419,3.4011,-8.7714,gain_of_function,-1.90033242645608,0.7387109208449193,,,0.153,benign,0.108595346,neutral,0.013490933,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514P,NP_000240:p.Asn514Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94047,4.95918,6.797670907096373,Uncertain,Uncertain,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.95,H,-0.1806,3.4011,-22.0592,loss_of_function,-2.6035442191409,0.6518987429808384,,,0.5148,ambiguous,0.091099826,neutral,-0.631629661,damaging,https://doi.org/10.1101/2022.10.22.513328 +N514Q,NP_000240:p.Asn514Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42679,-0.15442,-0.0633383153402999,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0777,3.4011,-5.071,gain_of_function,-0.827239926850989,0.8711852307319286,,,0.1082,benign,0.08116085,neutral,0.046418193,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514R,NP_000240:p.Asn514Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.75898,-0.12347,-0.4801081302386745,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0484,3.4011,-2.7054,gain_of_function,-1.11908199876705,0.835157043891276,,,0.0838,benign,0.010011959,neutral,0.046300007,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514S,NP_000240:p.Asn514Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15903,0.40646,0.5562570973224753,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,455393,Conflicting classifications of pathogenicity,1,90.95,H,0.1137,3.4011,-2.7271,gain_of_function,-0.0854186931186048,0.9627637815412882,,,0.0533,benign,0.001432114,neutral,-0.115600578,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514T,NP_000240:p.Asn514Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46246,0.17211,0.1940470984449022,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.95,H,0.0601,3.4011,-3.5236,gain_of_function,-0.103793190501834,0.9604954320175894,,,0.0608,benign,0.155813183,stabilizing,-0.101623058,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514V,NP_000240:p.Asn514Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15814,-0.53299,-0.1621849959859023,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,0.0274,3.4011,-5.1865,gain_of_function,-1.49625353056547,0.7885948524656443,,,0.102,benign,0.02921871,neutral,0.010383797,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514W,NP_000240:p.Asn514Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54019,-0.48435,-0.9366040602642396,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,-0.0095,3.4011,-8.7714,loss_of_function,-2.29320821983794,0.6902100230949801,,,0.3405,ambiguous,0.29877377,stabilizing,0.029681483,neutral,https://doi.org/10.1101/2022.10.22.513328 +N514Y,NP_000240:p.Asn514Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.53743,-0.95204,-0.4548905182079149,Neutral,Neutral,False,0.016,,,,,,,Uncertain,Uncertain,Uncertain,64.6,,False,64.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.95,H,-0.0557,3.4011,-22.0592,loss_of_function,-1.91268993425324,0.7371853745216017,,,0.0831,benign,0.277413122,stabilizing,0.028760757,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515A,NP_000240:p.Glu515Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28145,-0.03469,0.1845417591037373,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,0.0302,2.8398,-4.6807,gain_of_function,-0.282309293480799,0.9384574459590159,,,0.0796,benign,0.051185761,neutral,-0.035768292,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515C,NP_000240:p.Glu515Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22503,0.48027,0.8449819498025648,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,-0.06,2.8398,-8.768,loss_of_function,-0.62434182901871,0.8962331977036573,,,0.3536,ambiguous,0.182247117,stabilizing,-0.163292094,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515D,NP_000240:p.Glu515Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56169,0.28061,0.2495574845372733,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1774925,Uncertain significance,1,90.27,H,0.0743,2.8398,-2.7682,gain_of_function,-0.0515512908272445,0.966944745202729,,,0.0885,benign,0.045389183,neutral,0.027934705,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515F,NP_000240:p.Glu515Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84679,0.07313,-0.0840383858736826,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.1054,2.8398,-22.0559,loss_of_function,-2.66391869068495,0.6444454559104934,,,0.3419,ambiguous,0.252811782,stabilizing,-0.011474525,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515G,NP_000240:p.Glu515Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30635,0.84694,0.7389882023284006,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,-0.001,2.8398,-5.7682,loss_of_function,-0.88931272183405,0.8635222839858047,,,0.0682,benign,-0.030571916,neutral,-0.079815097,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515H,NP_000240:p.Glu515His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10457,-0.56939,-0.0118001068860423,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.0238,2.8398,-7.7681,loss_of_function,-2.66391869068495,0.6444454559104934,,,0.1486,benign,0.093297274,neutral,0.000246273,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515I,NP_000240:p.Glu515Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43242,-0.2619,-0.2177868700211294,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.1107,2.8398,-22.0559,loss_of_function,-2.14501181912715,0.7085050125009497,,,0.1516,benign,0.073631126,neutral,-0.148044262,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515K,NP_000240:p.Glu515Lys,"hg19,3:g.37070408G>A",,,0.491,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7851,-0.46054,0.0095207680587561,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,0.0162,2.8398,-3.1243,gain_of_function,-0.626883874447745,0.8959193797298696,,,0.0599,benign,-0.019752838,neutral,-0.064801095,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515L,NP_000240:p.Glu515Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60592,-0.37857,-0.4560044231239435,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.0349,2.8398,-6.7682,loss_of_function,-0.787798694619543,0.8760542891056261,,,0.1436,benign,0.060608997,neutral,-0.013275011,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515M,NP_000240:p.Glu515Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85493,-0.08129,-0.0938607812223613,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,0.0061,2.8398,-8.768,gain_of_function,-2.14501181912715,0.7085050125009497,,,0.1873,benign,0.175217682,stabilizing,0.013600257,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515N,NP_000240:p.Glu515Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14885,-0.09524,0.2045358318897183,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,0.0128,2.8398,-2.9608,gain_of_function,-0.161512781838236,0.9533698924838921,,,0.0985,benign,0.004641793,neutral,-0.02226838,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515P,NP_000240:p.Glu515Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39043,5.71633,5.92507191321754,Uncertain,Uncertain,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,-0.2154,2.8398,-22.0559,loss_of_function,-2.66391869068495,0.6444454559104934,,,0.5832,pathogenic,0.165369005,stabilizing,-0.985350418,damaging,https://doi.org/10.1101/2022.10.22.513328 +E515Q,NP_000240:p.Glu515Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33759,-0.5568,0.1687048938811275,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,3075055,Uncertain significance,1,90.27,H,0.0552,2.8398,-5.1832,gain_of_function,-0.0541991394812919,0.9666178657181932,,,0.0678,benign,0.098373229,neutral,-0.103008476,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515R,NP_000240:p.Glu515Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.6827,-0.67041,-0.1899876940723927,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.0532,2.8398,-4.8613,loss_of_function,-0.77185530878604,0.8780225155505345,,,0.0836,benign,-0.076813187,neutral,-0.119202413,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515S,NP_000240:p.Glu515Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39668,0.19082,0.5425937693925217,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,0.0225,2.8398,-3.5587,gain_of_function,-0.397740744383637,0.9242073213861229,,,0.0871,benign,0.007658887,neutral,-0.185253076,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515T,NP_000240:p.Glu515Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18347,0.24592,0.2985578753659151,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.27,H,-0.0046,2.8398,-5.7682,loss_of_function,-0.524906255949419,0.9085086156433235,,,0.0907,benign,0.081280143,neutral,0.05549321,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515V,NP_000240:p.Glu515Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11634,-0.08401,-0.0171462231430219,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.27,H,-0.0038,2.8398,-8.768,loss_of_function,-1.53027758672167,0.7843945497326477,,,0.1118,benign,0.16177737,stabilizing,-0.167945579,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515W,NP_000240:p.Glu515Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.75989,-0.03163,-0.5075618521517644,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.1155,2.8398,-22.0559,loss_of_function,-2.66391869068495,0.6444454559104934,,,0.4718,ambiguous,0.416423664,stabilizing,-0.187539306,neutral,https://doi.org/10.1101/2022.10.22.513328 +E515Y,NP_000240:p.Glu515Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64135,-0.22721,-0.0349523967595821,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,91.5,,False,91.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.27,H,-0.1062,2.8398,-22.0559,loss_of_function,-2.66391869068495,0.6444454559104934,,,0.2294,benign,0.220551,stabilizing,-0.07773063,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516A,NP_000240:p.Gln516Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13488,0.22381,-0.018902438654002,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.093,3.2452,-3.7682,gain_of_function,-0.663542163766452,0.8913938783579736,,,0.1246,benign,0.157516397,stabilizing,0.017696482,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516C,NP_000240:p.Gln516Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.68002,0.52585,0.4979617689089222,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0213,3.2452,-8.768,gain_of_function,-0.392441186969407,0.924861556889041,,,0.1199,benign,-0.026190535,neutral,-0.046193408,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516D,NP_000240:p.Gln516Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19459,0.70306,0.3252117841005436,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0067,3.2452,-3.7238,gain_of_function,-0.26860046689216,0.9401498138978087,,,0.1682,benign,0.071515596,neutral,-0.11917679,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516E,NP_000240:p.Gln516Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72279,0.39252,0.1195956383018426,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819474,Uncertain significance,2,89.15,H,0.0823,3.2452,-4.8613,gain_of_function,-0.216347212129471,0.9466005288795878,,,0.0835,benign,0.121942283,stabilizing,-0.128015155,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516F,NP_000240:p.Gln516Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.47804,-0.35646,-0.5156306395646426,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0132,3.2452,-8.768,gain_of_function,-1.15548977553813,0.830662468536361,,,0.2894,benign,0.111339611,stabilizing,-0.035347994,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516G,NP_000240:p.Gln516Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01433,1.12449,0.7562735555567581,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0162,3.2452,-4.9608,gain_of_function,-1.30930522004443,0.8116738027238292,,,0.0819,benign,0.02077358,neutral,0.227280846,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516H,NP_000240:p.Gln516His,"hg19,3:g.37070413G>C",,,0.601,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.05883,0.17789,-0.3616305789934049,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0826,3.2452,-5.5982,gain_of_function,-0.502058163402323,0.9113292348290181,,,0.0767,benign,-0.031578873,neutral,-0.125398722,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516I,NP_000240:p.Gln516Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40186,-0.54184,-0.5294000614800715,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.037,3.2452,-7.7681,gain_of_function,-0.571482418070313,0.9027587432544832,,,0.182,benign,0.020856861,neutral,0.12217322,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516K,NP_000240:p.Gln516Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.09613,-0.28061,-0.20039993513979,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0594,3.2452,-3.8613,gain_of_function,-0.212913068013343,0.9470244773015589,,,0.0652,benign,-0.036990196,neutral,-0.059014443,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516L,NP_000240:p.Gln516Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.92702,-0.32721,-0.9191257684633986,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0536,3.2452,-7.7681,gain_of_function,-0.551045951525283,0.9052816448711455,,,0.0974,benign,0.090666769,neutral,0.036801707,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516M,NP_000240:p.Gln516Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.8291,-0.33673,-0.495162664159966,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0097,3.2452,-22.0559,gain_of_function,-1.69764099002917,0.7637333752657107,,,0.1808,benign,0.066176986,neutral,-0.111028785,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516N,NP_000240:p.Gln516Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98093,0.08946,-0.1292717492603745,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0845,3.2452,-2.3588,gain_of_function,-0.242159698915574,0.9434139523498711,,,0.1405,benign,0.056536462,neutral,0.206512949,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516P,NP_000240:p.Gln516Pro,"hg19,3:g.37070412A>C",,,0.457,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.98259,8.39762,4.888354578991448,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1351172,Uncertain significance,2,89.15,H,-0.174,3.2452,-22.0559,loss_of_function,-2.12378648070697,0.7111253011157395,,,0.2944,benign,0.259615528,stabilizing,-0.897233387,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q516R,NP_000240:p.Gln516Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.84573,-0.35884,-0.6412769074393121,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1055630,Uncertain significance,1,89.15,H,0.0696,3.2452,-2.1388,gain_of_function,-0.0136035500556437,0.9716294306071457,,,0.057,benign,-0.025422586,neutral,0.038578304,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516S,NP_000240:p.Gln516Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28286,0.28163,0.2955730133753326,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0736,3.2452,-3.9608,gain_of_function,-0.572929733772732,0.9025800707272434,,,0.1319,benign,0.040685329,neutral,0.111333309,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516T,NP_000240:p.Gln516Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19381,0.33571,0.0476690035941707,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.15,H,0.0591,3.2452,-4.8613,gain_of_function,-0.827975192575698,0.8710944614650665,,,0.1038,benign,0.064636501,neutral,0.021317696,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516V,NP_000240:p.Gln516Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06084,-0.15136,-0.3724919128441056,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.15,H,0.0436,3.2452,-6.4462,gain_of_function,-1.20869828070034,0.8240938269662476,,,0.171,benign,0.080050635,neutral,0.215520914,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516W,NP_000240:p.Gln516Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20507,-0.67415,-0.8635851721590215,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,-0.054,3.2452,-22.0559,loss_of_function,-1.62795155740952,0.7723366033155786,,,0.1181,benign,0.416248494,stabilizing,-0.275658869,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q516Y,NP_000240:p.Gln516Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85402,-0.23027,-0.3651526151301454,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.6,,False,66.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.15,H,0.0109,3.2452,-8.768,gain_of_function,-1.3598198848137,0.8054377183630258,,,0.1675,benign,0.143433752,stabilizing,-0.119618112,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517A,NP_000240:p.Gly517Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.41442,-0.24898,-0.1958965985264393,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,0.0284,3.3834,-2.4861,gain_of_function,-0.124990665952807,0.9578785831133729,,,0.0801,benign,-0.00157674,neutral,0.115213824,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517C,NP_000240:p.Gly517Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74789,0.17993,-0.008397766320663,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0372,3.3834,-3.6422,loss_of_function,-0.0393836236244487,0.9684468555205425,,,0.1103,benign,0.153270201,stabilizing,-0.087286811,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517D,NP_000240:p.Gly517Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30976,2.9983,1.1637395715119792,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.1317,3.3834,-22.0592,loss_of_function,-1.90306899849682,0.7383730883722418,,,0.227,benign,0.055069247,neutral,0.038555532,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517E,NP_000240:p.Gly517Glu,"hg19,3:g.37070415G>A",,,0.411,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59302,7.21429,0.9788159873564932,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0408,3.3834,-4.3792,loss_of_function,-0.843553243434868,0.8691713359770841,,,0.1385,benign,0.16329935,stabilizing,0.195881191,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517F,NP_000240:p.Gly517Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41377,3.34286,-0.0059002739392016,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.1693,3.3834,-22.0592,loss_of_function,-1.37716593831867,0.8032963312336033,,,0.4361,ambiguous,0.173410528,stabilizing,-0.343581215,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517H,NP_000240:p.Gly517His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6744,3.56769,0.1554095458607618,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0711,3.3834,-7.7714,loss_of_function,-1.8808074616828,0.7411212966837778,,,0.2516,benign,0.087452601,neutral,0.049749349,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517I,NP_000240:p.Gly517Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18079,0.67551,-0.566793714270899,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.1318,3.3834,-5.7715,loss_of_function,-0.58745864864765,0.9007864620940919,,,0.1778,benign,0.16316784,stabilizing,-0.526859164,damaging,https://doi.org/10.1101/2022.10.22.513328 +G517K,NP_000240:p.Gly517Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7898,3.66395,1.1923437483578254,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0706,3.3834,-3.7715,loss_of_function,-0.804055033490548,0.8740474283046995,,,0.2298,benign,0.080131992,neutral,-0.240777764,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517L,NP_000240:p.Gly517Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.85745,3.05034,-0.9114057758053123,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.1073,3.3834,-7.1865,loss_of_function,-0.92039668614636,0.8596849384425815,,,0.3079,benign,0.051539641,neutral,-0.172598015,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517M,NP_000240:p.Gly517Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.82549,2.55578,-0.3617561941952685,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0254,3.3834,-3.2479,loss_of_function,-0.797584766215331,0.8748461890754479,,,0.3255,benign,0.094887052,neutral,-0.248051017,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517N,NP_000240:p.Gly517Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50695,1.42245,0.0164229653636327,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0499,3.3834,-5.9641,loss_of_function,-0.6072643006052,0.8983414351500918,,,0.2348,benign,0.099577375,neutral,-0.143566312,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517P,NP_000240:p.Gly517Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07354,8.76293,3.8307629192250174,Destabilizing,Destabilizing,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.2291,3.3834,-22.0592,loss_of_function,-2.71585971680322,0.6380332858577038,,,0.721,pathogenic,0.185212077,stabilizing,-0.946253573,damaging,https://doi.org/10.1101/2022.10.22.513328 +G517Q,NP_000240:p.Gly517Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33002,0.40612,0.4274859982298734,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0539,3.3834,-6.1865,loss_of_function,-1.37991820778613,0.8029565608983723,,,0.1844,benign,0.04548992,neutral,0.026187549,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517R,NP_000240:p.Gly517Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.6549,3.47177,0.3905036669320028,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,"1404870, 141297","Uncertain significance, Uncertain significance","1, 1",86.54,B,-0.0585,3.3834,-4.5236,loss_of_function,-0.388705760667237,0.9253226988890978,,,0.1686,benign,0.057120129,neutral,0.005258825,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517S,NP_000240:p.Gly517Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.23531,0.52143,0.4525980935380352,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,0.0129,3.3834,-4.3792,gain_of_function,-0.233423980662732,0.944492385241107,,,0.0813,benign,0.106400024,neutral,0.013218153,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517T,NP_000240:p.Gly517Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.07622,0.32721,0.0670369858478436,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0573,3.3834,-3.0711,loss_of_function,-0.266861270113643,0.9403645194269933,,,0.1147,benign,0.080055121,neutral,-0.185965164,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517V,NP_000240:p.Gly517Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.94536,0.31837,-0.9068615660467794,Neutral,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0721,3.3834,-5.1865,loss_of_function,-0.392538752060163,0.9248495123839572,,,0.1226,benign,0.049480946,neutral,-0.187317092,neutral,https://doi.org/10.1101/2022.10.22.513328 +G517W,NP_000240:p.Gly517Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.4698,6.76293,0.9786562942914124,Uncertain,Uncertain,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.1691,3.3834,-22.0592,loss_of_function,-2.31820655837679,0.6871239539560431,,,0.2939,benign,0.35343182,stabilizing,-0.536146076,damaging,https://doi.org/10.1101/2022.10.22.513328 +G517Y,NP_000240:p.Gly517Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88908,2.79728,0.7965478314635249,Uncertain,Neutral,False,0.01,,,,,,,,,,14.4,,False,14.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.54,B,-0.0917,3.3834,-6.7715,loss_of_function,-1.58647298933394,0.7774571727752813,,,0.2638,benign,0.181176606,stabilizing,-0.005958591,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518A,NP_000240:p.His518Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6515,1.70442,1.2481314024918624,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.1309,1.0028,-7.7681,loss_of_function,-2.0226332589239,0.7236127644550986,,,0.3838,ambiguous,-0.032540056,neutral,0.002269964,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518C,NP_000240:p.His518Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.078,1.4068,1.641423700206392,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.2584,1.0028,-22.0559,loss_of_function,-3.93829380340167,0.48712261220740594,,,0.1731,benign,0.062343085,neutral,0.094650704,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518D,NP_000240:p.His518Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.58169,0.37347,1.378954922569301,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.1605,1.0028,-4.3088,loss_of_function,-2.0233550247905,0.7235236617588139,,,0.1683,benign,-0.041487708,neutral,0.29500147,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518E,NP_000240:p.His518Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.80982,0.96463,1.2730039013245935,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.1948,1.0028,-8.768,loss_of_function,-3.01142954028469,0.6015449044706915,,,0.3724,ambiguous,-0.03487529,neutral,0.040971384,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518F,NP_000240:p.His518Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17327,0.93469,-0.2004752265623266,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.1577,1.0028,-8.768,loss_of_function,-2.96805335633808,0.6068997364502028,,,0.5216,ambiguous,0.18370081,stabilizing,-0.108593976,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518G,NP_000240:p.His518Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26717,3.76327,2.731852827523733,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.2864,1.0028,-22.0559,loss_of_function,-4.94718648095377,0.36257383262134335,,,0.4022,ambiguous,-0.031222301,neutral,0.036310772,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518I,NP_000240:p.His518Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.57585,0.85646,0.5563471123718133,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.2223,1.0028,-8.768,loss_of_function,-4.37142575270859,0.4336520529633842,,,0.4281,ambiguous,0.034263583,neutral,-0.262914424,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518K,NP_000240:p.His518Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82534,2.16837,1.2761403203291362,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.179,1.0028,-8.768,loss_of_function,-4.12972157674296,0.46349066791935367,,,0.4771,ambiguous,-0.068897338,neutral,-0.410933412,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518L,NP_000240:p.His518Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2526,1.35068,0.2985937129663613,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.1807,1.0028,-7.7681,loss_of_function,-1.69169893416999,0.7644669278248281,,,0.2031,benign,0.114919259,stabilizing,0.14115161,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518M,NP_000240:p.His518Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1007,1.34252,0.6162300198288101,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.2038,1.0028,-22.0559,loss_of_function,-3.94127756092801,0.48675426444678177,,,0.5493,ambiguous,0.04600404,neutral,-0.123457282,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518N,NP_000240:p.His518Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25972,0.38401,1.0389599796799225,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1047688,Uncertain significance,1,89.39,-,-0.1175,1.0028,-3.814,loss_of_function,-0.998481427420561,0.850045301396556,,,0.0762,benign,0.100620047,neutral,-0.006142721,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518P,NP_000240:p.His518Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.43392,7.56531,6.086314093202279,Destabilizing,Destabilizing,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.3671,1.0028,-22.0559,loss_of_function,-3.93899341625782,0.4870362443217477,,,0.4291,ambiguous,0.373795591,stabilizing,-1.005558776,damaging,https://doi.org/10.1101/2022.10.22.513328 +H518Q,NP_000240:p.His518Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28838,1.92143,1.3339843235395534,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.1721,1.0028,-22.0559,loss_of_function,-2.23661445714182,0.697196577991074,,,0.2742,benign,0.072041803,neutral,-0.053009418,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518R,NP_000240:p.His518Arg,"hg38,3:g.37028927A>G",,,0.787,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18633,2.16803,0.9368865812995788,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,483592,Uncertain significance,2,89.39,-,-0.2402,1.0028,-22.0559,loss_of_function,-4.27506715132455,0.44554761576409874,,,0.29,benign,0.003638364,neutral,-0.225390889,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518S,NP_000240:p.His518Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.21354,2.07925,1.7874938769384945,Uncertain,Uncertain,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.125,1.0028,-5.4462,loss_of_function,-2.36127863959218,0.6818066637536553,,,0.1853,benign,-0.019461304,neutral,0.014036488,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518T,NP_000240:p.His518Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75511,2.66054,1.436675317172365,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.1868,1.0028,-8.768,loss_of_function,-2.35806924442651,0.6822028666997045,,,0.328,benign,0.006272436,neutral,-0.194341358,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518V,NP_000240:p.His518Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91276,2.25476,0.7269303062925405,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.39,-,-0.2465,1.0028,-22.0559,loss_of_function,-4.37142575270859,0.4336520529633842,,,0.3782,ambiguous,0.028986882,neutral,0.037473779,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518W,NP_000240:p.His518Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62168,1.65442,-0.0765909847153034,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.39,-,-0.2417,1.0028,-22.0559,loss_of_function,-3.14210495364927,0.5854128979465166,,,0.6226,pathogenic,0.070778467,neutral,-0.205349913,neutral,https://doi.org/10.1101/2022.10.22.513328 +H518Y,NP_000240:p.His518Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2763,0.82585,0.1418748838884803,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,33.0,,False,33.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1015120,Uncertain significance,1,89.39,-,-0.1757,1.0028,-22.0559,loss_of_function,-2.73657123668711,0.6354764286395803,,,0.1781,benign,0.044243287,neutral,-0.070871745,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519A,NP_000240:p.Glu519Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33891,0.56429,0.2706575467981192,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,0.0803,3.2774,-2.7616,gain_of_function,-0.125186650206805,0.9578543886671284,,,0.088,benign,0.090986124,neutral,0.046724582,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519C,NP_000240:p.Glu519Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.81513,1.46769,1.267836207171156,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,-0.0875,3.2774,-22.0493,loss_of_function,-1.95042488946535,0.7325269577008886,,,0.5528,ambiguous,0.102377625,neutral,-0.013476847,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519D,NP_000240:p.Glu519Asp,"hg19,3:g.37070422G>T",,,0.507,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33011,0.37007,0.140273480685576,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1775180,Uncertain significance,1,86.86,H,0.0993,3.2774,-5.7615,gain_of_function,-0.513790025557295,0.9098809250670531,,,0.1024,benign,0.058152383,neutral,0.042111403,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519F,NP_000240:p.Glu519Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08557,0.71361,0.047841673120057,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0027,3.2774,-8.7614,gain_of_function,-2.3095629522323,0.6881910155181619,,,0.486,ambiguous,0.15951191,stabilizing,-0.127122192,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519G,NP_000240:p.Glu519Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83497,1.33946,1.0227197395273553,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1715751,Uncertain significance,1,86.86,H,0.0371,3.2774,-6.1766,gain_of_function,-1.91236826783091,0.7372250845534282,,,0.088,benign,0.017616619,neutral,0.078113973,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519H,NP_000240:p.Glu519His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76217,0.66463,-0.133599662508248,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0318,3.2774,-4.7615,gain_of_function,-1.87821535437637,0.7414412948448857,,,0.2076,benign,0.157446294,stabilizing,-0.040794956,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519I,NP_000240:p.Glu519Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92397,0.59558,0.0708899099899518,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0076,3.2774,-6.7615,gain_of_function,-2.05276549796338,0.7198929103199011,,,0.2059,benign,0.177433409,stabilizing,-0.303633081,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519K,NP_000240:p.Glu519Lys,"hg19,3:g.37070420G>A",,,0.519,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4239,0.5381,0.274873223312046,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,927460,Uncertain significance,1,86.86,H,0.0597,3.2774,-2.4948,gain_of_function,-0.3357439875506,0.9318608811488757,,,0.0689,benign,0.11925112,stabilizing,-0.134642888,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519L,NP_000240:p.Glu519Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05325,0.52415,-0.2440079444307669,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0033,3.2774,-7.1765,gain_of_function,-1.79890353169586,0.7512324162806875,,,0.2156,benign,0.117550126,stabilizing,-0.116621803,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519M,NP_000240:p.Glu519Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9289,0.25714,0.1127778497782133,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0583,3.2774,-6.4396,gain_of_function,-1.32268027105912,0.810022639703375,,,0.2511,benign,0.160748834,stabilizing,-0.11643447,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519N,NP_000240:p.Glu519Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32344,0.5449,0.4049048690651852,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,0.0515,3.2774,-3.2697,gain_of_function,-1.09319154672836,0.8383532453070445,,,0.1497,benign,0.102900337,neutral,-0.080113537,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519P,NP_000240:p.Glu519Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63704,0.31054,0.8499790118521052,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,-0.092,3.2774,-5.7615,loss_of_function,-1.53633623295016,0.783646603979356,,,0.251,benign,0.241254535,stabilizing,0.047148794,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519Q,NP_000240:p.Glu519Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98343,-0.04626,0.3667096651460444,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,0.0976,3.2774,-4.7615,gain_of_function,-0.617280369377532,0.8971049417453911,,,0.0948,benign,0.117295674,stabilizing,0.026441987,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519R,NP_000240:p.Glu519Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57346,0.92075,0.1464265776957718,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,-0.0073,3.2774,-3.7616,loss_of_function,-0.414720357779258,0.9221111716436162,,,0.1167,benign,0.231278399,stabilizing,0.023336526,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519S,NP_000240:p.Glu519Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.75603,0.7119,0.361726368901466,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,0.0602,3.2774,-4.0611,gain_of_function,-0.338569731020466,0.9315120403767838,,,0.1194,benign,0.162469033,stabilizing,0.003955379,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519T,NP_000240:p.Glu519Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39847,0.47823,0.4586095913277788,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.86,H,0.0403,3.2774,-4.8547,gain_of_function,-0.266330896625549,0.9404299945485168,,,0.1166,benign,0.083165272,neutral,0.016124423,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519V,NP_000240:p.Glu519Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39423,0.81531,0.2530949471471455,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.86,H,0.0446,3.2774,-7.1765,gain_of_function,-1.58598953492048,0.7775168556915336,,,0.1255,benign,0.117261986,stabilizing,-0.117131193,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519W,NP_000240:p.Glu519Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11584,0.27823,-0.5448613232345101,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,-0.0752,3.2774,-22.0493,loss_of_function,-2.54989922796274,0.6585212691729764,,,0.6504,pathogenic,0.339517302,stabilizing,-0.074512867,neutral,https://doi.org/10.1101/2022.10.22.513328 +E519Y,NP_000240:p.Glu519Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24989,0.48776,0.1196911947324436,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,80.0,,False,80.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.86,H,-0.0659,3.2774,-22.0493,loss_of_function,-2.54989922796274,0.6585212691729764,,,0.3548,ambiguous,0.274901009,stabilizing,-0.138425643,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520A,NP_000240:p.Val520Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34423,0.37721,0.1831393367147932,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,495759,Uncertain significance,2,87.16,H,0.0448,3.3025,-4.2246,gain_of_function,0.100984060142515,0.9857753822265906,,,0.0609,benign,0.01582724,neutral,-0.038829293,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520C,NP_000240:p.Val520Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31559,1.1932,0.9924523609510494,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.16,H,-0.074,3.3025,-22.0359,loss_of_function,-1.35810382376975,0.8056495677633383,,,0.3013,benign,0.087451588,neutral,-0.005422948,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520D,NP_000240:p.Val520Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46917,0.03163,-0.0465942225107068,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2834035,Uncertain significance,1,87.16,H,-0.1209,3.3025,-4.0478,loss_of_function,-0.414919153985141,0.9220866300591841,,,0.0982,benign,0.018929489,neutral,-0.037086981,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520E,NP_000240:p.Val520Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4991,-0.09354,-0.2259929319694481,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.16,H,-0.0734,3.3025,-3.1043,loss_of_function,-0.517028772573935,0.9094810986065327,,,0.1055,benign,0.039549033,neutral,0.086012068,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520F,NP_000240:p.Val520Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5463,-0.42313,-0.1753517115559894,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.0473,3.3025,-7.1632,loss_of_function,-1.80545965538528,0.7504230564523321,,,0.0856,benign,0.096559965,neutral,0.143477779,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520G,NP_000240:p.Val520Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34377,0.63639,0.7721608693581874,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819530,Uncertain significance,2,87.16,H,-0.0685,3.3025,-1.7709,loss_of_function,-0.0506142768738194,0.9670604204841052,,,0.0737,benign,0.112678118,stabilizing,-0.057596386,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520H,NP_000240:p.Val520His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29995,0.27177,-0.2454049663376872,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.1325,3.3025,-5.7482,loss_of_function,-1.29372581594713,0.813597095270371,,,0.1601,benign,0.052870371,neutral,0.277444113,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520I,NP_000240:p.Val520Ile,"hg38,3:g.37028932G>A",,,0.181,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42629,0.09558,-0.0435316565717069,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,859135,Uncertain significance,1,87.16,H,0.1005,3.3025,-5.9408,gain_of_function,-0.0140783690805469,0.9715708137379863,,,0.0605,benign,0.116121367,stabilizing,-0.024865986,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520K,NP_000240:p.Val520Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1532,0.17007,-0.0464994581488026,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.1279,3.3025,-6.1632,loss_of_function,-0.242863662414852,0.943327047373099,,,0.1014,benign,0.069116797,neutral,-0.209326314,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520L,NP_000240:p.Val520Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56549,-0.0381,-0.1887661670782869,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,0.0262,3.3025,-7.7481,gain_of_function,-0.943518681565959,0.8568305056816135,,,0.0839,benign,0.076451409,neutral,-0.070337309,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520M,NP_000240:p.Val520Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.02982,0.39388,0.0132801091849349,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.0558,3.3025,-22.0359,loss_of_function,-1.50222450234002,0.7878577302087285,,,0.0687,benign,0.165526368,stabilizing,-0.05570437,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520N,NP_000240:p.Val520Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17766,0.37823,0.1983400625054354,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.16,H,-0.1059,3.3025,-3.5003,loss_of_function,-0.0781970492961698,0.9636553004755635,,,0.0635,benign,0.03286815,neutral,0.024891722,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520P,NP_000240:p.Val520Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.38271,4.91224,1.2845858199947082,Uncertain,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.16,H,-0.1724,3.3025,-6.7482,loss_of_function,-0.58164608155142,0.9015040291398296,,,0.1298,benign,0.035760394,neutral,-0.091007917,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520Q,NP_000240:p.Val520Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39195,0.23367,0.1658786056886718,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.16,H,-0.0907,3.3025,-4.4263,loss_of_function,-0.840328552799794,0.8695694271636666,,,0.1178,benign,0.019704575,neutral,-0.021340942,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520R,NP_000240:p.Val520Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00463,0.58095,-0.1159037365922305,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.1478,3.3025,-5.9408,loss_of_function,-0.250100400997147,0.9424336649760782,,,0.1,benign,0.136177201,stabilizing,-0.161195111,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520S,NP_000240:p.Val520Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23915,0.49864,0.1271263214466134,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.16,H,-0.056,3.3025,-3.6607,loss_of_function,0.0988123559764518,0.985507283240917,,,0.064,benign,0.039008673,neutral,-0.203119946,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520T,NP_000240:p.Val520Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35297,0.25374,0.1348506296544915,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.16,H,0.0319,3.3025,-3.0203,gain_of_function,0.106152744570497,0.9864134613324202,,,0.0611,benign,0.035526431,neutral,0.021197073,neutral,https://doi.org/10.1101/2022.10.22.513328 +V520W,NP_000240:p.Val520Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.17407,-0.28401,-0.5693944224559638,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.1638,3.3025,-22.0359,loss_of_function,-1.87572722054287,0.7417484573799148,,,0.4013,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +V520Y,NP_000240:p.Val520Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.11873,0.06122,-0.2041163517088595,Neutral,Neutral,False,0.046,,,,,,,Uncertain,Uncertain,Uncertain,90.0,,False,90.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,87.16,H,-0.0989,3.3025,-8.7481,loss_of_function,-1.87572722054287,0.7417484573799148,,,0.1982,benign,0.280849089,stabilizing,-0.042210357,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521A,NP_000240:p.Leu521Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31244,2.17245,2.932502878707849,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.2962,0.5044,-7.1699,loss_of_function,-3.36575027945573,0.5578036655582842,,,0.5353,ambiguous,0.059831194,neutral,0.033639954,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521C,NP_000240:p.Leu521Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.52578,2.45306,3.1162213738837243,Uncertain,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.3613,0.5044,-22.0426,loss_of_function,-4.79831009514914,0.3809527668466766,,,0.7184,pathogenic,0.060016901,neutral,-0.136688679,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521D,NP_000240:p.Leu521Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.01255,3.1881,3.839314298814894,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4936,0.5044,-22.0426,loss_of_function,-5.57973763643067,0.2844847789555403,,,0.9644,pathogenic,0.07577109,neutral,-0.547672719,damaging,https://doi.org/10.1101/2022.10.22.513328 +L521E,NP_000240:p.Leu521Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.02358,3.00782,3.3878767814829827,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4617,0.5044,-22.0426,loss_of_function,-5.34680638686335,0.313240367638627,,,0.8099,pathogenic,0.13696592,stabilizing,-0.881934924,damaging,https://doi.org/10.1101/2022.10.22.513328 +L521F,NP_000240:p.Leu521Phe,"hg19,3:g.37081679C>T",,,0.670,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08111,0.9415,1.139715206182938,Neutral,Neutral,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,UP,-,neutral,neutral,455394,Uncertain significance,2,88.14,H,-0.2259,0.5044,-6.4329,loss_of_function,-5.49025700461527,0.29553124974194594,,,0.295,benign,0.101039102,neutral,-0.045206817,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521G,NP_000240:p.Leu521Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99555,4.31837,4.6099433177320215,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4469,0.5044,-22.0426,loss_of_function,-5.921450002698,0.24230005590717243,,,0.8243,pathogenic,0.085070498,neutral,-0.464927678,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521H,NP_000240:p.Leu521His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.66248,2.56054,2.396205825057233,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819517,Uncertain significance,2,88.14,H,-0.4145,0.5044,-22.0426,loss_of_function,-5.49025700461527,0.29553124974194594,,,0.6733,pathogenic,-0.015202922,neutral,-0.276067012,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521I,NP_000240:p.Leu521Ile,"hg38,3:g.37040188C>A",,,0.577,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40593,1.75476,1.1502563597659647,Neutral,Neutral,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,-,-,uncertain,neutral,3200912,Uncertain significance,1,88.14,H,-0.1733,0.5044,-7.7548,loss_of_function,-2.28469182888237,0.6912613798186384,,,0.1302,benign,0.04775339,neutral,-0.141821372,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521K,NP_000240:p.Leu521Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07829,3.31599,3.8147541001319896,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.14,H,-0.4607,0.5044,-22.0426,loss_of_function,-5.921450002698,0.24230005590717243,,,0.7957,pathogenic,0.09398856,neutral,-0.984196059,damaging,https://doi.org/10.1101/2022.10.22.513328 +L521M,NP_000240:p.Leu521Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59127,1.19796,1.3949165012446552,Neutral,Neutral,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.14,H,-0.1823,0.5044,-4.9475,loss_of_function,-1.2035033889343,0.8247351413933793,,,0.1563,benign,-0.042196406,neutral,0.050805923,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521N,NP_000240:p.Leu521Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.11157,2.2585,2.908578342061439,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4399,0.5044,-22.0426,loss_of_function,-5.57973763643067,0.2844847789555403,,,0.851,pathogenic,0.042979831,neutral,-0.30170654,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521P,NP_000240:p.Leu521Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.1085,7.65816,7.229704119526376,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4555,0.5044,-22.0426,loss_of_function,-5.921450002698,0.24230005590717243,,,0.8776,pathogenic,0.088941455,neutral,-0.795615481,damaging,https://doi.org/10.1101/2022.10.22.513328 +L521Q,NP_000240:p.Leu521Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41789,2.3915,2.6671878303949104,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.3929,0.5044,-22.0426,loss_of_function,-5.57973763643067,0.2844847789555403,,,0.487,ambiguous,0.062336446,neutral,-0.504079599,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521R,NP_000240:p.Leu521Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31154,3.16531,2.777731930745042,Destabilizing,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.14,H,-0.3845,0.5044,-8.7547,loss_of_function,-5.921450002698,0.24230005590717243,,,0.674,pathogenic,0.169631518,stabilizing,-1.071214208,damaging,https://doi.org/10.1101/2022.10.22.513328 +L521S,NP_000240:p.Leu521Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.67803,3.37075,3.8549552123609176,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.4025,0.5044,-22.0426,loss_of_function,-3.7685638304942,0.5080759419868355,,,0.6112,pathogenic,-0.057817261,neutral,0.071810449,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521T,NP_000240:p.Leu521Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28116,3.38095,2.889756759348161,Destabilizing,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.3074,0.5044,-8.7547,loss_of_function,-2.52247231813517,0.6619071477930186,,,0.475,ambiguous,-0.044018601,neutral,0.022081471,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521V,NP_000240:p.Leu521Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.19945,2.63639,1.7191119284901004,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.14,H,-0.2066,0.5044,-7.1699,loss_of_function,-2.3136819034913,0.6876825269901969,,,0.1375,benign,0.064008194,neutral,-0.172858279,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521W,NP_000240:p.Leu521Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48219,0.27177,1.6137993077481203,Uncertain,Uncertain,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.14,H,-0.4047,0.5044,-22.0426,loss_of_function,-4.40912516873352,0.4289980234897985,,,0.5231,ambiguous,0.050774631,neutral,-0.222559097,neutral,https://doi.org/10.1101/2022.10.22.513328 +L521Y,NP_000240:p.Leu521Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72721,1.19864,1.886916299298453,Neutral,Neutral,False,0.068,,,,,,,,,,10.5,,False,10.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.14,H,-0.3976,0.5044,-22.0426,loss_of_function,-5.49025700461527,0.29553124974194594,,,0.7156,pathogenic,-0.10658041,destabilizing,-0.166870181,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522A,NP_000240:p.Arg522Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46565,0.31769,1.2082902590037283,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.0926,2.5715,-6.4296,loss_of_function,-1.46164918319414,0.792866792711983,,,0.2259,benign,0.133832761,stabilizing,-0.111672345,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522C,NP_000240:p.Arg522Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09558,1.7619,2.002518842098693,Neutral,Uncertain,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.099,2.5715,-5.9442,loss_of_function,-1.1618967577198,0.8298715203717923,,,0.101,benign,0.260004088,stabilizing,-0.120125109,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522D,NP_000240:p.Arg522Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37271,3.05272,2.554012661386077,Uncertain,Uncertain,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1793,2.5715,-5.5816,loss_of_function,-1.28149525596406,0.8151069697629103,,,0.5154,ambiguous,0.28172285,stabilizing,-0.743472309,damaging,https://doi.org/10.1101/2022.10.22.513328 +R522E,NP_000240:p.Arg522Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33452,1.72007,1.9099112981007376,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1275,2.5715,-6.1666,loss_of_function,-1.73593895751219,0.7590054540340785,,,0.1933,benign,0.186074238,stabilizing,-0.00691129,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522F,NP_000240:p.Arg522Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05413,0.25782,0.1169017174508219,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.18,H,-0.2044,2.5715,-22.0393,loss_of_function,-2.89895555202471,0.6154299274118301,,,0.4393,ambiguous,0.38854338,stabilizing,-0.330583875,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522G,NP_000240:p.Arg522Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4,1.98469,2.6373063093007785,Neutral,Uncertain,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,483549,Uncertain significance,2,89.18,H,-0.128,2.5715,-6.4296,loss_of_function,-2.05435199175323,0.7196970561227767,,,0.1227,benign,0.168981042,stabilizing,-0.094446437,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522H,NP_000240:p.Arg522His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9086,0.33401,0.9093410261414242,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.0623,2.5715,-6.4296,loss_of_function,-1.05702152861061,0.8428184691255995,,,0.0954,benign,0.151366241,stabilizing,-0.19111987,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522I,NP_000240:p.Arg522Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63092,1.87891,0.5694208377386273,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1287,2.5715,-7.7515,loss_of_function,-2.55055008729022,0.6584409199577194,,,0.2693,benign,0.165707937,stabilizing,-0.396882162,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522K,NP_000240:p.Arg522Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14542,0.82925,1.2532442112340323,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.18,H,0.0248,2.5715,-4.9442,gain_of_function,-0.729438203709794,0.8832589483132725,,,0.0842,benign,-0.027036403,neutral,0.077573134,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522L,NP_000240:p.Arg522Leu,"hg19,3:g.37081683G>T",,,0.634,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58284,0.68333,0.247286439952728,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1775358,Uncertain significance,1,89.18,H,-0.0937,2.5715,-6.1666,loss_of_function,-2.42366543972058,0.6741049527677804,,,0.1769,benign,0.274040073,stabilizing,-0.125812842,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522M,NP_000240:p.Arg522Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48762,0.65068,0.637813683044445,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1405,2.5715,-22.0393,loss_of_function,-2.83892065463424,0.6228412937235569,,,0.2315,benign,0.234886952,stabilizing,-0.120500672,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522N,NP_000240:p.Arg522Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22165,2.03844,1.6511509628517191,Uncertain,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1142,2.5715,-7.7515,loss_of_function,-1.36590194993582,0.8046868815246011,,,0.4237,ambiguous,0.187041222,stabilizing,-0.21283888,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522P,NP_000240:p.Arg522Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.52962,8.68197,8.104663389877002,Destabilizing,Destabilizing,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.3143,2.5715,-22.0393,loss_of_function,-3.42164397794135,0.5509035342679807,,,0.645,pathogenic,0.393977039,stabilizing,-1.088055021,damaging,https://doi.org/10.1101/2022.10.22.513328 +R522Q,NP_000240:p.Arg522Gln,"hg19,3:g.37081683G>A",,3.18580405712e-05,0.462,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44985,0.37041,1.459816449784493,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89791,Conflicting classifications of pathogenicity,1,89.18,H,-0.044,2.5715,-1.8567,loss_of_function,-0.0562867255016901,0.9663601511991897,,,0.0683,benign,0.182670902,stabilizing,0.018319362,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522S,NP_000240:p.Arg522Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43248,1.72279,1.9755214948927315,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.0855,2.5715,-4.9442,loss_of_function,-1.11202732989754,0.836027949605661,,,0.2931,benign,0.406341664,stabilizing,0.174135365,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522T,NP_000240:p.Arg522Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39793,1.29422,1.577408949896239,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.0738,2.5715,-1.7974,loss_of_function,-1.06884462396959,0.8413588965361111,,,0.1715,benign,0.130195396,stabilizing,-0.000364771,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522V,NP_000240:p.Arg522Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65238,2.52007,0.8457099814857385,Uncertain,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.18,H,-0.1158,2.5715,-7.7515,loss_of_function,-1.7020563062218,0.7631883001992399,,,0.2743,benign,0.136317738,stabilizing,-0.227656501,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522W,NP_000240:p.Arg522Trp,"hg19,3:g.37081682C>T, hg38,3:g.37040191C>T",3.1887755102e-05,1.59294008952e-05,0.484,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03225,0.53844,-0.049780541772269,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,UP,-,neutral,neutral,216331,Uncertain significance,2,89.18,H,-0.19,2.5715,-22.0393,loss_of_function,-2.89895555202471,0.6154299274118301,,,0.1166,benign,0.452965541,stabilizing,-0.141784587,neutral,https://doi.org/10.1101/2022.10.22.513328 +R522Y,NP_000240:p.Arg522Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09536,0.35306,0.3501159475767912,Neutral,Neutral,False,0.051,,,,,,,Uncertain,Uncertain,Uncertain,52.3,,False,52.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.18,H,-0.1937,2.5715,-22.0393,loss_of_function,-2.89895555202471,0.6154299274118301,,,0.2679,benign,0.198221639,stabilizing,-0.17617883,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523A,NP_000240:p.Glu523Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48146,-0.34728,0.3761176880147593,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.0772,1.6869,-4.9442,loss_of_function,-2.18165445274823,0.7039814438401106,,,0.1811,benign,0.048211685,neutral,-0.057983698,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523C,NP_000240:p.Glu523Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94252,0.32857,1.0105214852300188,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.2338,1.6869,-22.0393,loss_of_function,-4.1195391158919,0.4647477025875599,,,0.8114,pathogenic,0.114954168,stabilizing,-0.022283992,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523D,NP_000240:p.Glu523Asp,"hg38,3:g.37040196G>C, hg38,3:g.37040196G>T",,,0.427,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63588,0.38605,0.2782875089184095,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"2715783, 89792","Uncertain significance, Conflicting classifications of pathogenicity","1, 1",89.02,H,-0.0319,1.6869,-2.7974,loss_of_function,-0.456395286148195,0.9169663613152454,,,0.1057,benign,0.049529314,neutral,0.155757214,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523F,NP_000240:p.Glu523Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00148,-0.14014,-0.1301466081317798,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.2114,1.6869,-22.0393,loss_of_function,-4.73860029857668,0.3883239991470993,,,0.7949,pathogenic,0.204351287,stabilizing,-0.183411866,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523G,NP_000240:p.Glu523Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34874,0.82211,1.017910866261576,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.1143,1.6869,-7.1665,loss_of_function,-3.13123980372123,0.5867542112434279,,,0.1279,benign,0.063771679,neutral,-0.169171095,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523H,NP_000240:p.Glu523His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77332,0.03605,-0.0506626822289646,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.1298,1.6869,-7.7515,loss_of_function,-3.51771888157563,0.5390429942296373,,,0.4444,ambiguous,0.101818041,neutral,0.049535972,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523I,NP_000240:p.Glu523Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0474,-0.57993,-0.1663853947336907,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.2167,1.6869,-22.0393,loss_of_function,-4.55486084395385,0.41100681303232595,,,0.4516,ambiguous,0.131003072,stabilizing,-0.233202851,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523K,NP_000240:p.Glu523Lys,"hg38,3:g.37040194G>A",,3.9818427968e-06,0.643,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43599,-0.3466,0.161244912710749,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.0997,1.6869,-5.0511,loss_of_function,-2.1005805136854,0.7139901002524165,,,0.1456,benign,0.076517969,neutral,-0.029131942,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523L,NP_000240:p.Glu523Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05735,-0.6517,-0.1898324465183909,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.1511,1.6869,-8.7514,loss_of_function,-4.55486084395385,0.41100681303232595,,,0.4392,ambiguous,0.146771173,stabilizing,-0.208459552,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523M,NP_000240:p.Glu523Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2161,-0.1398,0.2064647089934435,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.1677,1.6869,-22.0393,loss_of_function,-3.97096601916437,0.48308919548216,,,0.4834,ambiguous,0.126696722,stabilizing,-0.169030294,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523N,NP_000240:p.Glu523Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52728,-0.18163,0.2605591923826977,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.1039,1.6869,-5.0511,loss_of_function,-2.01287105543346,0.7248179179445216,,,0.2151,benign,0.09756294,neutral,-0.112450324,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523P,NP_000240:p.Glu523Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13285,7.79626,3.821308935693273,Destabilizing,Destabilizing,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.2485,1.6869,-7.7515,loss_of_function,-2.90973565182061,0.6140991136362232,,,0.8187,pathogenic,0.097436545,neutral,-0.98362337,damaging,https://doi.org/10.1101/2022.10.22.513328 +E523Q,NP_000240:p.Glu523Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2846,-0.19558,0.4035837997715408,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.0589,1.6869,-6.7515,loss_of_function,-1.48193788758246,0.7903621324768837,,,0.1424,benign,0.097742909,neutral,-0.094955102,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523R,NP_000240:p.Glu523Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69319,-0.13673,-8.9172628738865e-05,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.1659,1.6869,-6.1666,loss_of_function,-2.5007013837354,0.6645947907606717,,,0.2694,benign,0.181653415,stabilizing,-0.189697315,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523S,NP_000240:p.Glu523Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57282,0.00952,0.5156277801742906,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.105,1.6869,-7.7515,loss_of_function,-2.85425108163471,0.6209487376411056,,,0.2108,benign,0.043786455,neutral,-0.022283544,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523T,NP_000240:p.Glu523Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57712,-0.37959,0.3390794537547431,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.02,H,-0.1141,1.6869,-6.4296,loss_of_function,-3.94346829687477,0.48648381596932205,,,0.2307,benign,0.089294757,neutral,-0.07059754,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523V,NP_000240:p.Glu523Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60768,-0.46973,0.0460862850025622,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.02,H,-0.1098,1.6869,-8.7514,loss_of_function,-3.26757696764725,0.5699232561210146,,,0.2672,benign,0.086734831,neutral,-0.104543163,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523W,NP_000240:p.Glu523Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03527,-0.2551,-0.5719566532047393,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.2215,1.6869,-22.0393,loss_of_function,-4.73860029857668,0.3883239991470993,,,0.8905,pathogenic,0.324748385,stabilizing,-0.264155308,neutral,https://doi.org/10.1101/2022.10.22.513328 +E523Y,NP_000240:p.Glu523Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06816,-0.32551,-0.0705166017483993,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,66.0,,False,66.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.02,H,-0.1393,1.6869,-7.7515,loss_of_function,-4.73860029857668,0.3883239991470993,,,0.6374,pathogenic,0.265807337,stabilizing,-0.357180228,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524A,NP_000240:p.Met524Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07754,2.27585,1.953734088760268,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.1392,2.0497,-7.7582,loss_of_function,-2.45873965044733,0.6697750074344865,,,0.7279,pathogenic,0.006658634,neutral,-0.11264161,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524C,NP_000240:p.Met524Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.29087,2.54592,2.251934739157709,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2176,2.0497,-22.0459,loss_of_function,-3.26303908196535,0.570483462509818,,,0.8999,pathogenic,0.167509482,stabilizing,-0.161766822,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524D,NP_000240:p.Met524Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.17087,2.25714,3.0332723998727933,Uncertain,Destabilizing,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3236,2.0497,-22.0459,loss_of_function,-2.73167733262391,0.6360805858428635,,,0.9773,pathogenic,-0.067659411,neutral,-1.022620909,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524E,NP_000240:p.Met524Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.23377,2.09456,2.379234437701685,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3138,2.0497,-22.0459,loss_of_function,-3.51929912938154,0.5388479111052883,,,0.9023,pathogenic,0.095233752,neutral,-1.076683006,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524F,NP_000240:p.Met524Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26644,0.24796,-0.2450036555139395,Neutral,Neutral,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.1391,2.0497,-6.7582,loss_of_function,-2.66041770410087,0.6448776560999648,,,0.5678,pathogenic,0.263857041,stabilizing,-0.249310768,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524G,NP_000240:p.Met524Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.4897,4.04524,3.5642408290159304,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.293,2.0497,-22.0459,loss_of_function,-4.20365592855507,0.4543634004779569,,,0.9133,pathogenic,-0.14479133,destabilizing,-0.793698674,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524H,NP_000240:p.Met524His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.59612,2.18333,1.186456713732447,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2704,2.0497,-22.0459,loss_of_function,-3.80696038206798,0.5033358504535805,,,0.9093,pathogenic,0.089828262,neutral,-0.86045718,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524I,NP_000240:p.Met524Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10696,0.37347,0.3467947676089877,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,-,-,uncertain,neutral,"1009528, 187310, 127616","Uncertain significance, Conflicting classifications of pathogenicity, Uncertain significance","2, 1, 2",90.35,H,-0.0263,2.0497,-1.8394,loss_of_function,-0.576477219948639,0.9021421301180601,,,0.4525,ambiguous,0.07552953,neutral,0.018768109,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524K,NP_000240:p.Met524Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.04723,3.28537,2.365472289180504,Destabilizing,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.2747,2.0497,-22.0459,loss_of_function,-3.01028845923319,0.6016857720332531,,,0.6607,pathogenic,0.083243571,neutral,-0.792624,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524L,NP_000240:p.Met524Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.80346,0.51293,-0.2929058790971439,Neutral,Neutral,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,-,-,uncertain,neutral,2566517,Uncertain significance,1,90.35,H,0.0017,2.0497,-2.8275,gain_of_function,-0.516039726228247,0.909603197337201,,,0.1582,benign,0.018245881,neutral,0.033397577,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524N,NP_000240:p.Met524Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.58065,2.01973,2.0294876819681384,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2652,2.0497,-22.0459,loss_of_function,-2.8239790927661,0.6246858440282551,,,0.8726,pathogenic,-0.011469504,neutral,-1.024074636,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524P,NP_000240:p.Met524Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.7257,11.49116,6.8447823828904815,Destabilizing,Destabilizing,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3831,2.0497,-22.0459,loss_of_function,-4.20365592855507,0.4543634004779569,,,0.9845,pathogenic,-0.090944869,destabilizing,-1.064341188,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524Q,NP_000240:p.Met524Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.04122,1.96531,1.7423089495066584,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.1895,2.0497,-8.7581,loss_of_function,-2.53666398863475,0.6601551723051017,,,0.7431,pathogenic,0.05652965,neutral,-0.565180126,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524R,NP_000240:p.Met524Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.8629,2.28163,1.5434224239945598,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1050350,Uncertain significance,0,90.35,H,-0.3019,2.0497,-22.0459,loss_of_function,-3.61908782245729,0.5265289001583277,,,0.7362,pathogenic,0.110382843,stabilizing,-0.865851763,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524S,NP_000240:p.Met524Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.62159,3.03707,2.916015416518384,Destabilizing,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.1676,2.0497,-7.1732,loss_of_function,-1.87505595262035,0.7418313260560242,,,0.8213,pathogenic,0.068874981,neutral,-0.961519455,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524T,NP_000240:p.Met524Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93769,1.66701,1.904094869753029,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.0993,2.0497,-5.5883,loss_of_function,-1.78121812384751,0.7534156970329458,,,0.4805,ambiguous,0.031011179,neutral,-0.164524735,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524V,NP_000240:p.Met524Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83408,0.99932,0.8194286923621025,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1279934,Uncertain significance,2,90.35,H,-0.066,2.0497,-3.332,loss_of_function,-0.109388312100392,0.9598047088294432,,,0.1574,benign,0.033911768,neutral,0.007768157,neutral,https://doi.org/10.1101/2022.10.22.513328 +M524W,NP_000240:p.Met524Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.62125,0.60952,-0.0730868235858472,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.2799,2.0497,-22.0459,loss_of_function,-3.80696038206798,0.5033358504535805,,,0.9108,pathogenic,0.468545411,stabilizing,-0.785560053,damaging,https://doi.org/10.1101/2022.10.22.513328 +M524Y,NP_000240:p.Met524Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.86835,1.32857,0.2564303550990365,Uncertain,Uncertain,False,0.049,,,,,,,,,,3.6,,False,3.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.2595,2.0497,-22.0459,loss_of_function,-3.80696038206798,0.5033358504535805,,,0.8707,pathogenic,0.251813654,stabilizing,-0.895771658,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525A,NP_000240:p.Leu525Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.21771,3.68537,4.093808592879171,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2701,1.6128,-22.0493,loss_of_function,-4.17586121092121,0.45779468532842876,,,0.7586,pathogenic,0.049655789,neutral,-0.920031348,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525C,NP_000240:p.Leu525Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.97476,3.08844,4.158320147622625,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2594,1.6128,-22.0493,loss_of_function,-4.36414368269106,0.43455103157005254,,,0.6689,pathogenic,0.12265583,stabilizing,-0.625726549,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525D,NP_000240:p.Leu525Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.04621,4.47857,5.25552116422532,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3917,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.9934,pathogenic,0.33514602,stabilizing,-1.040878538,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525E,NP_000240:p.Leu525Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.13421,3.56361,4.80746488682316,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3597,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.972,pathogenic,0.29827626,stabilizing,-1.099586155,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525F,NP_000240:p.Leu525Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22986,0.2102,2.7520344099681524,Neutral,Uncertain,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.1005,1.6128,-1.8427,loss_of_function,-0.594053534193698,0.8999723170769399,,,0.148,benign,0.036121248,neutral,-0.049341927,neutral,https://doi.org/10.1101/2022.10.22.513328 +L525G,NP_000240:p.Leu525Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.71897,5.74456,6.282921629831679,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.345,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.9354,pathogenic,-0.032210674,neutral,-1.0364329,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525H,NP_000240:p.Leu525His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.85061,2.1881,3.907109399942068,Uncertain,Uncertain,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3125,1.6128,-22.0493,loss_of_function,-3.67357111777635,0.5198028845069101,,,0.8755,pathogenic,0.08126971,neutral,-0.987178002,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525I,NP_000240:p.Leu525Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09096,0.77993,1.6350216064353658,Neutral,Neutral,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.35,H,-0.0489,1.6128,-3.3692,loss_of_function,-1.11044999928239,0.8362226725999812,,,0.0924,benign,0.095460113,neutral,-0.148179154,neutral,https://doi.org/10.1101/2022.10.22.513328 +L525K,NP_000240:p.Leu525Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.23882,5.44762,6.686775555462439,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.35,H,-0.3587,1.6128,-22.0493,loss_of_function,-3.98903356483358,0.4808587394452746,,,0.9671,pathogenic,-0.032001462,neutral,-1.147332295,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525M,NP_000240:p.Leu525Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1948,0.54592,2.128422186042004,Neutral,Uncertain,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.35,H,-0.0879,1.6128,-6.4396,loss_of_function,-0.575742853449676,0.9022327883746317,,,0.1513,benign,0.041341664,neutral,-0.165132423,neutral,https://doi.org/10.1101/2022.10.22.513328 +L525N,NP_000240:p.Leu525Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28111,3.41122,3.894546144710141,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.338,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.952,pathogenic,0.032136064,neutral,-0.969487724,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525P,NP_000240:p.Leu525Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.45299,12.45408,10.059975276170515,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3535,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.9653,pathogenic,0.245677379,stabilizing,-1.099907642,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525Q,NP_000240:p.Leu525Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.80059,2.56735,3.633715790046346,Uncertain,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2909,1.6128,-22.0493,loss_of_function,-5.05001114087627,0.3498800286225151,,,0.8698,pathogenic,0.093881448,neutral,-1.071232262,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525R,NP_000240:p.Leu525Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.22255,4.60884,5.452988524947163,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.3503,1.6128,-22.0493,loss_of_function,-4.03605507931424,0.4750538878756663,,,0.923,pathogenic,0.0973807,neutral,-1.006410337,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525S,NP_000240:p.Leu525Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.85519,4.47449,5.165857000000765,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.3005,1.6128,-22.0493,loss_of_function,-3.41287869419517,0.5519856170480452,,,0.8897,pathogenic,-0.128186543,destabilizing,-0.508909205,neutral,https://doi.org/10.1101/2022.10.22.513328 +L525T,NP_000240:p.Leu525Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.57756,3.15476,3.903252055675679,Destabilizing,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.35,H,-0.2733,1.6128,-22.0493,loss_of_function,-4.36414368269106,0.43455103157005254,,,0.7402,pathogenic,0.126341541,stabilizing,-0.969462324,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525V,NP_000240:p.Leu525Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37251,1.64048,2.1236074002410934,Uncertain,Uncertain,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,483586,Uncertain significance,2,90.35,H,-0.0903,1.6128,-4.3692,loss_of_function,-0.556684177183843,0.9045856004449847,,,0.1273,benign,0.163053166,stabilizing,-0.452279033,neutral,https://doi.org/10.1101/2022.10.22.513328 +L525W,NP_000240:p.Leu525Trp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.38041,1.80374,4.596223547885828,Uncertain,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,2729752,Uncertain significance,1,90.35,H,-0.3027,1.6128,-22.0493,loss_of_function,-3.67357111777635,0.5198028845069101,,,0.5408,ambiguous,0.424648865,stabilizing,-0.97415566,damaging,https://doi.org/10.1101/2022.10.22.513328 +L525Y,NP_000240:p.Leu525Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.70811,1.66973,4.226076927906514,Uncertain,Destabilizing,False,0.04,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.35,H,-0.2278,1.6128,-8.7614,loss_of_function,-3.67357111777635,0.5198028845069101,,,0.7334,pathogenic,-0.035458365,neutral,-1.038583477,damaging,https://doi.org/10.1101/2022.10.22.513328 +H526A,NP_000240:p.His526Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10424,0.45272,1.076784002568112,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.0756,2.9454,-2.3186,gain_of_function,-0.97537983713353,0.8528972151241174,,,0.1493,benign,-0.003172545,neutral,-0.094607358,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526C,NP_000240:p.His526Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40952,0.92449,1.653174685219247,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,-0.0016,2.9454,-6.7615,loss_of_function,-0.273319922638454,0.9395671925084479,,,0.0729,benign,0.076671381,neutral,0.077114926,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526D,NP_000240:p.His526Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19639,2.10476,1.574350485863762,Uncertain,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,-0.0723,2.9454,-22.0493,loss_of_function,-1.76632107596688,0.7552547520427109,,,0.1461,benign,0.139155417,stabilizing,-0.161901596,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526E,NP_000240:p.His526Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07309,0.62551,1.3258413755016167,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.0083,2.9454,-4.0067,gain_of_function,-0.580235578316494,0.9016781571322524,,,0.1538,benign,0.021964987,neutral,0.178084217,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526F,NP_000240:p.His526Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06251,-0.43129,0.4637537017348853,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,-0.0467,2.9454,-22.0493,loss_of_function,-1.75115634037147,0.7571268533605007,,,0.2197,benign,0.106446201,neutral,0.004077408,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526G,NP_000240:p.His526Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8984,1.74966,1.8798099915002275,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,-0.0296,2.9454,-6.7615,loss_of_function,-1.51452001430526,0.7863398373309923,,,0.1225,benign,0.142132789,stabilizing,-0.058003223,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526I,NP_000240:p.His526Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38923,-0.07823,0.5501607839923661,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,-0.0435,2.9454,-8.7614,loss_of_function,-2.07397671104609,0.7172743654917224,,,0.1989,benign,0.049575513,neutral,0.000635248,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526K,NP_000240:p.His526Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64815,0.14456,0.90605507629781,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,0.0241,2.9454,-4.0067,gain_of_function,-0.407791727053325,0.9229665178269301,,,0.1122,benign,0.099687615,neutral,-0.076308325,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526L,NP_000240:p.His526Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50706,0.12721,0.059046287644604,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,-0.002,2.9454,-7.7615,loss_of_function,-2.32859663172061,0.6858412893242388,,,0.0861,benign,0.090093812,neutral,-0.069465453,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526M,NP_000240:p.His526Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49087,0.65816,0.5203704800963033,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,0.0428,2.9454,-8.7614,gain_of_function,-2.08242621994553,0.7162312654227633,,,0.3176,benign,0.162443976,stabilizing,-0.02088667,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526N,NP_000240:p.His526Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11801,1.47109,1.053066249393723,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.0462,2.9454,-6.7615,gain_of_function,-0.324484212469954,0.9332509113036298,,,0.0939,benign,0.041532999,neutral,-0.020915529,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526P,NP_000240:p.His526Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.97946,7.07755,5.978482732013528,Destabilizing,Destabilizing,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,-0.1883,2.9454,-22.0493,loss_of_function,-2.61277734988865,0.6507589040346574,,,0.3095,benign,0.364160333,stabilizing,-1.00447304,damaging,https://doi.org/10.1101/2022.10.22.513328 +H526Q,NP_000240:p.His526Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.32164,0.95,0.9880306799819292,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1378357,Uncertain significance,1,90.99,H,0.1065,2.9454,-2.4948,gain_of_function,-0.0666526733405508,0.9650804648843723,,,0.0772,benign,0.122000261,stabilizing,-0.104574202,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526R,NP_000240:p.His526Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.41595,0.31395,0.4914849022266965,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,455395,Conflicting classifications of pathogenicity,1,90.99,H,0.0397,2.9454,-2.2224,gain_of_function,-0.0559395987784884,0.966403004329853,,,0.0501,benign,0.041904628,neutral,0.061323458,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526S,NP_000240:p.His526Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11192,1.22279,1.5286059284113374,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.061,2.9454,-4.0067,gain_of_function,-0.959475243526618,0.854860652631028,,,0.1304,benign,0.041040337,neutral,0.021956853,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526T,NP_000240:p.His526Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24489,0.80884,1.3898543872852989,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.0021,2.9454,-6.7615,gain_of_function,-0.71471362908767,0.8850767113319903,,,0.1497,benign,0.180216854,stabilizing,0.052751503,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526V,NP_000240:p.His526Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17464,0.1898,0.77278175809953,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.99,H,0.0001,2.9454,-8.7614,gain_of_function,-2.32859663172061,0.6858412893242388,,,0.1694,benign,0.096270088,neutral,0.101401822,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526W,NP_000240:p.His526Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4433,-0.12007,0.0631160510005562,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,-0.063,2.9454,-22.0493,loss_of_function,-1.75115634037147,0.7571268533605007,,,0.1761,benign,0.174569354,stabilizing,-0.290165482,neutral,https://doi.org/10.1101/2022.10.22.513328 +H526Y,NP_000240:p.His526Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14408,-0.64558,0.6509606073545118,Neutral,Neutral,False,0.021,,,,,,,Uncertain,Uncertain,Uncertain,67.2,,False,67.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.99,H,0.076,2.9454,-7.7615,gain_of_function,-0.11559205271103,0.9590388510339459,,,0.0846,benign,0.161080459,stabilizing,-0.063689745,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527A,NP_000240:p.Asn527Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71045,0.77109,0.3793324844453793,Neutral,Neutral,False,0.018,0.0,,,-0.00657,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,90.77,S,-0.011,2.6523,-7.7714,loss_of_function,-1.659427476381,0.7684508705895176,,,0.1643,benign,-0.022038319,neutral,-0.083003947,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527C,NP_000240:p.Asn527Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51788,1.08061,0.8545636704392447,Neutral,Neutral,False,0.018,0.0,,,-0.00235,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,90.77,S,-0.1338,2.6523,-22.0592,loss_of_function,-1.81586757800643,0.7491381883099291,,,0.1589,benign,0.017076849,neutral,-0.066104887,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527D,NP_000240:p.Asn527Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01399,0.75238,0.3015787651809143,Neutral,Neutral,False,0.018,-0.00064,,,0.01043,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,-,-,uncertain,neutral,1051863,Uncertain significance,1,90.77,S,0.0115,2.6523,-2.7271,gain_of_function,-0.0226273289457086,0.9705154363508497,,,0.0674,benign,-0.050765919,neutral,0.093013265,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527E,NP_000240:p.Asn527Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17518,0.12993,0.2331841793941613,Neutral,Neutral,False,0.018,-0.00122,,,-0.02334,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0225,2.6523,-4.0711,loss_of_function,-0.184347868514672,0.9505508788855451,,,0.2007,benign,0.054229824,neutral,0.199790826,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527F,NP_000240:p.Asn527Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0691,-0.21633,-0.1539900939369154,Neutral,Neutral,False,0.018,-0.00068,,,-0.09629,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0682,2.6523,-7.7714,loss_of_function,-2.38430662602502,0.6789638364932835,,,0.4292,ambiguous,0.025083172,neutral,-0.17408932,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527G,NP_000240:p.Asn527Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55906,1.12007,0.8488077932374968,Neutral,Neutral,False,0.018,0.0,,,-0.06719,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,90.77,S,-0.0235,2.6523,-4.1865,loss_of_function,-0.653446339681885,0.8926402176333258,,,0.1558,benign,-0.001336022,neutral,0.173280047,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527H,NP_000240:p.Asn527His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10461,-0.1398,-0.0735010785459755,Neutral,Neutral,False,0.018,0.0,,,-0.01145,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0068,2.6523,-5.9641,loss_of_function,-0.880573408847162,0.864601160650445,,,0.0659,benign,0.013110526,neutral,0.009437277,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527I,NP_000240:p.Asn527Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22928,1.26463,0.6379482302704411,Neutral,Neutral,False,0.018,0.0,,,-0.02253,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0664,2.6523,-8.7714,loss_of_function,-2.81450955847028,0.6258548672217372,,,0.2472,benign,0.21107046,stabilizing,-0.503931753,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527K,NP_000240:p.Asn527Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59472,-0.46803,0.229446681998986,Neutral,Neutral,False,0.018,0.0,,,0.07,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,2983665,Uncertain significance,1,90.77,S,0.0064,2.6523,-3.7271,gain_of_function,-0.682211715388067,0.8890891041023681,,,0.1671,benign,-0.014327514,neutral,0.084136841,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527L,NP_000240:p.Asn527Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05549,-0.03844,-0.3425046210259347,Neutral,Neutral,False,0.018,0.0,,,-0.03026,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.1406,2.6523,-22.0592,loss_of_function,-2.81450955847028,0.6258548672217372,,,0.2308,benign,0.018822702,neutral,0.009924018,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527M,NP_000240:p.Asn527Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46023,0.51224,0.0023843986069432,Neutral,Neutral,False,0.018,-0.00068,,,-0.04851,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.027,2.6523,-8.7714,loss_of_function,-2.81450955847028,0.6258548672217372,,,0.3425,ambiguous,0.049284458,neutral,0.050675824,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527P,NP_000240:p.Asn527Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.63913,6.36327,5.799887888987351,Destabilizing,Destabilizing,False,0.018,0.0,,,-0.11305,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.77,S,-0.1817,2.6523,-8.7714,loss_of_function,-2.81450955847028,0.6258548672217372,,,0.7568,pathogenic,0.610888667,stabilizing,-0.970665911,damaging,https://doi.org/10.1101/2022.10.22.513328 +N527Q,NP_000240:p.Asn527Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53789,-0.09422,0.2961002291917053,Neutral,Neutral,False,0.018,0.0,,,-0.07273,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,0.0088,2.6523,-5.071,gain_of_function,-0.57927046525821,0.9017973012753773,,,0.1769,benign,-0.007462087,neutral,0.069047735,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527R,NP_000240:p.Asn527Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53929,0.04388,0.0391113470005366,Neutral,Neutral,False,0.018,0.0,,,-0.01455,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0362,2.6523,-5.7715,loss_of_function,-1.25222852558926,0.8187199760139816,,,0.1711,benign,0.08035342,neutral,-0.068043267,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527S,NP_000240:p.Asn527Ser,"hg38,3:g.37040207A>G",,,0.404,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29858,0.87823,0.7598026267224345,Neutral,Neutral,False,0.018,0.0,,,0.00037,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,1775686,Uncertain significance,1,90.77,S,0.0405,2.6523,-3.562,gain_of_function,-0.701473387330554,0.886711232018843,,,0.0653,benign,-0.02116874,neutral,-0.214106203,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527T,NP_000240:p.Asn527Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12222,0.9085,0.7364759045623825,Uncertain,Uncertain,False,0.018,0.00014,,,-0.03434,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.77,S,-0.0167,2.6523,-5.071,loss_of_function,-1.7551685104752,0.7566315470697227,,,0.1175,benign,0.061131006,neutral,-0.048187004,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527V,NP_000240:p.Asn527Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6974,0.94762,0.5572291821377751,Neutral,Neutral,False,0.018,0.0,,,0.01617,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.1276,2.6523,-22.0592,loss_of_function,-2.81450955847028,0.6258548672217372,,,0.2372,benign,0.075080903,neutral,-0.155437359,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527W,NP_000240:p.Asn527Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23504,0.25068,-0.5521543841405874,Neutral,Neutral,False,0.018,0.0,,,0.01637,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.1462,2.6523,-22.0592,loss_of_function,-2.38430662602502,0.6789638364932835,,,0.633,pathogenic,0.020513329,neutral,-0.226211753,neutral,https://doi.org/10.1101/2022.10.22.513328 +N527Y,NP_000240:p.Asn527Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35579,-0.2983,-0.008512941743588,Neutral,Neutral,False,0.018,-0.0017,,,-0.06262,,,Uncertain,Neutral,Uncertain,62.5,,False,62.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.77,S,-0.0517,2.6523,-7.7714,loss_of_function,-1.41313526171025,0.7988558833736511,,,0.143,benign,0.005188305,neutral,-0.062116396,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528A,NP_000240:p.His528Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.748,-0.16463,1.5246668416059383,Neutral,Neutral,False,0.024,0.0095,,,-0.01418,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.2094,0.9421,-22.0592,loss_of_function,-2.91081010529484,0.6139664713126987,,,0.5494,ambiguous,-0.007363626,neutral,-0.008117646,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528C,NP_000240:p.His528Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98387,-0.22551,1.5798193465308392,Neutral,Neutral,False,0.024,-0.0058,,,0.07224,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.1809,0.9421,-5.7715,loss_of_function,-2.62353624355602,0.6494307081761858,,,0.1683,benign,0.052783429,neutral,0.021144833,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528D,NP_000240:p.His528Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.38591,1.51973,2.5630292518809705,Uncertain,Uncertain,False,0.024,0.0,,,0.02486,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.2567,0.9421,-22.0592,loss_of_function,-4.45806878057033,0.4229558871372984,,,0.7392,pathogenic,0.242214411,stabilizing,-1.060294084,damaging,https://doi.org/10.1101/2022.10.22.513328 +H528E,NP_000240:p.His528Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91163,1.33912,2.1940151121803786,Uncertain,Uncertain,False,0.024,-0.00112,,,0.01514,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.2682,0.9421,-22.0592,loss_of_function,-3.47521354114757,0.5442903197321377,,,0.844,pathogenic,0.04491249,neutral,-0.456452787,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528F,NP_000240:p.His528Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90036,-0.3449,-0.4234993884029953,Neutral,Neutral,False,0.024,0.0,,,0.11512,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.2311,0.9421,-22.0592,loss_of_function,-2.5685228937945,0.6562221595626337,,,0.5481,ambiguous,0.069342859,neutral,-0.073449287,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528G,NP_000240:p.His528Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67971,1.68401,2.6905015892065984,Uncertain,Uncertain,False,0.024,-0.0227,,,0.12414,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.292,0.9421,-22.0592,loss_of_function,-4.29773145631194,0.44274968533090864,,,0.6242,pathogenic,0.112797152,stabilizing,-0.582764421,damaging,https://doi.org/10.1101/2022.10.22.513328 +H528I,NP_000240:p.His528Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57775,-0.92381,0.2287888164727863,Neutral,Neutral,False,0.024,0.02982,,,-0.01787,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.2957,0.9421,-22.0592,loss_of_function,-3.85743789030552,0.49710435310265805,,,0.4704,ambiguous,0.086831602,neutral,-0.059075589,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528K,NP_000240:p.His528Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6544,2.91122,1.96681105625494,Uncertain,Neutral,False,0.024,-0.0058,,,0.01419,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.2524,0.9421,-22.0592,loss_of_function,-5.22407959275074,0.3283911094066445,,,0.879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +H528L,NP_000240:p.His528Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16332,-0.46667,-0.4370733615582017,Neutral,Neutral,False,0.024,-0.00116,,,-0.11777,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.1651,0.9421,-3.6016,loss_of_function,-1.17027477976643,0.828837245424149,,,0.1215,benign,0.103075365,neutral,-0.021023704,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528M,NP_000240:p.His528Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.84506,-2.08673,0.0859400041810248,Uncertain,Neutral,False,0.024,-0.0058,,,0.02616,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.1314,0.9421,-6.7715,loss_of_function,-1.95503684961295,0.7319576067474484,,,0.5339,ambiguous,0.106884188,neutral,0.047161196,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528N,NP_000240:p.His528Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07595,0.27891,1.4053381903028352,Neutral,Neutral,False,0.024,0.0,,,0.12186,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.1403,0.9421,-7.1865,loss_of_function,-3.18560341958854,0.5800429701364079,,,0.1962,benign,0.030205977,neutral,-0.425530982,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528P,NP_000240:p.His528Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.29973,3.84184,5.495341179185248,Destabilizing,Destabilizing,False,0.024,-0.0093,,,0.08067,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.3049,0.9421,-8.7714,loss_of_function,-5.22407959275074,0.3283911094066445,,,0.6764,pathogenic,-0.016022287,neutral,-1.07244465,damaging,https://doi.org/10.1101/2022.10.22.513328 +H528Q,NP_000240:p.His528Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83709,-0.10068,1.3842613698034858,Neutral,Neutral,False,0.024,-0.0008,,,0.01481,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2475876,Uncertain significance,1,91.35,-,-0.1099,0.9421,-8.7714,loss_of_function,-3.08717411210497,0.5921941636135228,,,0.5726,pathogenic,0.038167624,neutral,-0.089138843,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528R,NP_000240:p.His528Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.50654,3.37823,1.070748257383012,Destabilizing,Uncertain,False,0.024,-0.0014,,,0.018,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1024548,Uncertain significance,2,91.35,-,-0.2458,0.9421,-22.0592,loss_of_function,-5.22407959275074,0.3283911094066445,,,0.6918,pathogenic,0.123409997,stabilizing,-0.940758956,damaging,https://doi.org/10.1101/2022.10.22.513328 +H528S,NP_000240:p.His528Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.72105,0.50612,2.043194981124759,Neutral,Uncertain,False,0.024,0.01788,,,-0.02995,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.1323,0.9421,-5.7715,loss_of_function,-1.06007725719667,0.8424412364678471,,,0.3526,ambiguous,0.074443324,neutral,-0.116691504,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528T,NP_000240:p.His528Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.7002,0.56497,1.491877331556022,Uncertain,Uncertain,False,0.024,0.02096,,,0.01965,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.2602,0.9421,-22.0592,loss_of_function,-4.0542806476606,0.4728039237860178,,,0.4428,ambiguous,0.189281123,stabilizing,-0.263745188,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528V,NP_000240:p.His528Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99962,-0.19014,0.4857567830177972,Neutral,Neutral,False,0.024,0.01426,,,0.00973,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.35,-,-0.1843,0.9421,-8.7714,loss_of_function,-3.97479984468363,0.4826159060033144,,,0.4461,ambiguous,0.134700772,stabilizing,0.111235259,neutral,https://doi.org/10.1101/2022.10.22.513328 +H528W,NP_000240:p.His528Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.74074,2.18537,-0.3198946102730099,Uncertain,Uncertain,False,0.024,-0.00576,,,0.14027,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.35,-,-0.2473,0.9421,-22.0592,loss_of_function,-3.31285588686544,0.5643335296267311,,,0.7788,pathogenic,0.246490332,stabilizing,-0.675556396,damaging,https://doi.org/10.1101/2022.10.22.513328 +H528Y,NP_000240:p.His528Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.07433,0.47041,-0.147486486828362,Uncertain,Uncertain,False,0.024,-0.00062,,,0.05865,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,216332,Uncertain significance,2,91.35,-,-0.1032,0.9421,-6.7715,loss_of_function,-2.30712274360034,0.6884922616405773,,,0.2725,benign,0.178683003,stabilizing,-0.672270708,damaging,https://doi.org/10.1101/2022.10.22.513328 +S529A,NP_000240:p.Ser529Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23744,0.28367,-0.3090988243476439,Neutral,Neutral,False,0.029,0.00546,,,-0.00733,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,-,-,uncertain,neutral,,,,92.37,E,-0.0088,2.021,-5.4496,loss_of_function,-1.81132304853811,0.74969921488061,,,0.1088,benign,0.046996491,neutral,0.024723135,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529C,NP_000240:p.Ser529Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42609,0.56599,0.4142585797949794,Neutral,Neutral,False,0.029,-0.0167,,,0.02848,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,924117,Uncertain significance,2,92.37,E,-0.1441,2.021,-22.0592,loss_of_function,-2.33571909711341,0.6849620140632967,,,0.1002,benign,0.050493697,neutral,-0.035501883,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529D,NP_000240:p.Ser529Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31041,0.41156,-0.0116109525519808,Neutral,Neutral,False,0.029,-0.01184,,,0.1689,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1923,2.021,-22.0592,loss_of_function,-3.87247226291723,0.4952483452216475,,,0.8992,pathogenic,0.123414679,stabilizing,-0.109542909,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529E,NP_000240:p.Ser529Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54954,0.04014,-0.3314216605433501,Neutral,Neutral,False,0.029,-0.07872,,,-0.15778,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1655,2.021,-22.0592,loss_of_function,-3.87247226291723,0.4952483452216475,,,0.9127,pathogenic,-0.05198821,neutral,-0.149538431,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529F,NP_000240:p.Ser529Phe,"hg19,3:g.37081704_37081705delinsTT, hg38,3:g.37040213_37040214delinsTT",,,,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.23965,-0.51361,-0.6869884391520187,Neutral,Neutral,False,0.029,-0.08058,,,-0.11041,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,642277,Uncertain significance,1,92.37,E,-0.1039,2.021,-8.7714,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.4986,ambiguous,0.159973231,stabilizing,-0.003007732,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529G,NP_000240:p.Ser529Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19571,1.56531,0.5878665011175801,Neutral,Neutral,False,0.029,0.04558,,,0.03377,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.37,E,-0.1028,2.021,-22.0592,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.2298,benign,0.054280023,neutral,0.015942709,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529H,NP_000240:p.Ser529His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34401,-0.13639,-0.4899846992030993,Neutral,Neutral,False,0.029,0.1169,,,0.06772,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1729,2.021,-22.0592,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.6517,pathogenic,-0.021530813,neutral,0.156268518,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529I,NP_000240:p.Ser529Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67999,-0.82585,-1.056600055988961,Neutral,Neutral,False,0.029,-0.08002,,,0.00928,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.0806,2.021,-3.6016,loss_of_function,-1.9662361292857,0.7305750448094747,,,0.1947,benign,0.062335433,neutral,-0.080383838,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529K,NP_000240:p.Ser529Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.92959,-0.1085,-0.532303386118157,Neutral,Neutral,False,0.029,-0.24254,,,-0.0114,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.0913,2.021,-4.2479,loss_of_function,-1.58305771261571,0.777878791998682,,,0.9077,pathogenic,-0.014126333,neutral,0.230402935,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529L,NP_000240:p.Ser529Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.17233,-0.40578,-1.054253351715554,Neutral,Neutral,False,0.029,-0.1106,,,-0.00089,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.0981,2.021,-7.7714,loss_of_function,-2.8538990335066,0.6209921983239782,,,0.1602,benign,0.079680244,neutral,-0.028440816,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529M,NP_000240:p.Ser529Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.23676,-0.44932,-0.5102542454398834,Neutral,Neutral,False,0.029,-0.19632,,,-0.05041,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1421,2.021,-22.0592,loss_of_function,-3.51481876898315,0.5394010159420478,,,0.3178,benign,0.070676432,neutral,-0.118504551,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529N,NP_000240:p.Ser529Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33801,-0.1466,-0.1108263957968475,Neutral,Neutral,False,0.029,-0.038,,,-0.12762,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.043,2.021,-7.7714,loss_of_function,-2.79675714581018,0.6280464197829952,,,0.3939,ambiguous,0.002361334,neutral,0.083307237,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529P,NP_000240:p.Ser529Pro,"hg19,3:g.37081703T>C",,,0.758,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95244,3.4051,3.166159615162366,Uncertain,Uncertain,False,0.029,0.01348,,,0.09805,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.2471,2.021,-22.0592,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.9354,pathogenic,0.016388748,neutral,-0.896054627,damaging,https://doi.org/10.1101/2022.10.22.513328 +S529Q,NP_000240:p.Ser529Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4696,-0.73333,-0.2065235180826979,Neutral,Neutral,False,0.029,-0.34094,,,-0.00629,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.0677,2.021,-8.7714,loss_of_function,-2.05974447857626,0.7190313483942085,,,0.7954,pathogenic,-0.018531864,neutral,0.041729237,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529R,NP_000240:p.Ser529Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.81715,0.1949,-0.7856667556613844,Neutral,Neutral,False,0.029,-1.49,,,-0.19546,,,Uncertain,Uncertain,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1875,2.021,-22.0592,loss_of_function,-3.4223072689976,0.5508216503437493,,,0.844,pathogenic,0.037949488,neutral,-0.107914208,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529T,NP_000240:p.Ser529Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22766,-0.07483,-0.4599684420747246,Neutral,Neutral,False,0.029,-0.02522,,,-0.00625,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,neutral,,,UP,-,neutral,neutral,,,,92.37,E,0.0202,2.021,-1.5916,gain_of_function,-0.146119484256014,0.9552702100006399,,,0.0786,benign,-0.018785007,neutral,-0.069859031,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529V,NP_000240:p.Ser529Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23933,-0.69592,-0.84114113195287,Neutral,Neutral,False,0.029,-0.04208,,,0.00878,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.0585,2.021,-4.3121,loss_of_function,-1.15829094975464,0.8303166608624262,,,0.1836,benign,0.060018511,neutral,0.073420749,neutral,https://doi.org/10.1101/2022.10.22.513328 +S529W,NP_000240:p.Ser529Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.19571,0.08061,-1.037837972140836,Neutral,Neutral,False,0.029,-0.82228,,,-0.20742,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1814,2.021,-22.0592,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.7264,pathogenic,0.23265118,stabilizing,-0.568810565,damaging,https://doi.org/10.1101/2022.10.22.513328 +S529Y,NP_000240:p.Ser529Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.21782,-0.60884,-0.670858475405739,Neutral,Neutral,False,0.029,-0.60552,,,-0.19358,,,Uncertain,Neutral,Uncertain,79.4,,False,79.4,,uncertain,,,UP,-,neutral,neutral,,,,92.37,E,-0.1765,2.021,-22.0592,loss_of_function,-4.68034988048504,0.3955150697585886,,,0.4648,ambiguous,0.182586269,stabilizing,0.102095977,neutral,https://doi.org/10.1101/2022.10.22.513328 +F530A,NP_000240:p.Phe530Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.33161,3.78912,3.3175934789937216,Destabilizing,Destabilizing,False,0.044,0.06052,,,-0.05818,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.3301,0.5486,-8.7714,loss_of_function,-4.98823278165826,0.35750662698786523,,,0.9854,pathogenic,0.039708227,neutral,-1.045416849,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530C,NP_000240:p.Phe530Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31371,3.82551,3.4245320743808576,Destabilizing,Destabilizing,False,0.044,0.04504,,,-0.00325,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.366,0.5486,-22.0592,loss_of_function,-3.92042538095921,0.48932848628881603,,,0.9536,pathogenic,-0.059506926,neutral,-1.107955702,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530D,NP_000240:p.Phe530Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.3488,5.6568,3.978706702732405,Destabilizing,Destabilizing,False,0.044,0.08654,,,0.00018,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.5209,0.5486,-22.0592,loss_of_function,-5.49992996902455,0.2943371129036467,,,0.9983,pathogenic,-0.316555817,destabilizing,-0.997444516,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530E,NP_000240:p.Phe530Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.56511,4.86769,3.639932785678458,Destabilizing,Destabilizing,False,0.044,0.12422,,,0.0363,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4902,0.5486,-22.0592,loss_of_function,-5.49992996902455,0.2943371129036467,,,0.9985,pathogenic,-0.327832881,destabilizing,-0.975202443,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530G,NP_000240:p.Phe530Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.68833,5.27687,4.648054687020944,Destabilizing,Destabilizing,False,0.044,0.02516,,,0.08823,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4333,0.5486,-22.0592,loss_of_function,-5.70798502674142,0.2686525142323418,,,0.9952,pathogenic,-0.191752647,destabilizing,-1.100923524,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530H,NP_000240:p.Phe530His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12597,2.75612,2.046615330549937,Uncertain,Uncertain,False,0.044,-0.0105,,,0.05604,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4255,0.5486,-22.0592,loss_of_function,-3.59919944621952,0.5289841394949564,,,0.9814,pathogenic,0.103944566,neutral,-0.971568039,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530I,NP_000240:p.Phe530Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39253,2.59898,2.019935061314384,Uncertain,Uncertain,False,0.044,0.08348,,,0.04842,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.3418,0.5486,-22.0592,loss_of_function,-4.29379435887013,0.44323572382875814,,,0.8719,pathogenic,0.137456962,stabilizing,-0.590096664,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530K,NP_000240:p.Phe530Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46722,4.82109,3.696707805983898,Destabilizing,Destabilizing,False,0.044,0.06908,,,0.14114,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4971,0.5486,-22.0592,loss_of_function,-5.70798502674142,0.2686525142323418,,,0.9982,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F530L,NP_000240:p.Phe530Leu,"hg38,3:g.37040217C>G",,3.9803212915e-06,0.639,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91979,3.36769,1.6538383850968832,Uncertain,Neutral,False,0.044,0.04136,,,-0.04166,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"2452050, 2014550, 418617","Uncertain significance, Uncertain significance, Uncertain significance","1, 1, 2",92.56,E,-0.228,0.5486,-7.1865,loss_of_function,-3.15671445685472,0.5836093406057968,,,0.9871,pathogenic,0.054414976,neutral,-0.534934564,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530M,NP_000240:p.Phe530Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84996,1.64252,2.040710748702972,Neutral,Uncertain,False,0.044,0.0056,,,0.09805,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.2671,0.5486,-8.7714,loss_of_function,-4.50514389786204,0.41714441824867576,,,0.9488,pathogenic,0.073336026,neutral,-0.667223389,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530N,NP_000240:p.Phe530Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.00746,3.90102,3.224500242423712,Destabilizing,Destabilizing,False,0.044,0.03702,,,0.08819,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4505,0.5486,-22.0592,loss_of_function,-5.49992996902455,0.2943371129036467,,,0.9927,pathogenic,-0.07956387,neutral,-0.987138346,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530P,NP_000240:p.Phe530Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.09113,3.38061,5.866717064751872,Destabilizing,Destabilizing,False,0.044,0.04284,,,-0.01442,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.5212,0.5486,-22.0592,loss_of_function,-5.70798502674142,0.2686525142323418,,,0.9984,pathogenic,-0.338853804,destabilizing,-0.912790661,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530Q,NP_000240:p.Phe530Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.51545,3.88129,3.220369224035611,Destabilizing,Destabilizing,False,0.044,0.03308,,,-0.01135,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4526,0.5486,-22.0592,loss_of_function,-5.49992996902455,0.2943371129036467,,,0.9973,pathogenic,-0.059976927,neutral,-1.009706445,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530R,NP_000240:p.Phe530Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.66365,4.45918,2.966805089583726,Destabilizing,Uncertain,False,0.044,0.08154,,,0.09692,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4985,0.5486,-22.0592,loss_of_function,-5.70798502674142,0.2686525142323418,,,0.9945,pathogenic,-0.063558874,neutral,-0.992505359,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530S,NP_000240:p.Phe530Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.26129,4.43401,3.885327201986213,Destabilizing,Destabilizing,False,0.044,0.04194,,,0.10422,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,567883,Uncertain significance,2,92.56,E,-0.3769,0.5486,-22.0592,loss_of_function,-4.98823278165826,0.35750662698786523,,,0.9783,pathogenic,-0.070882531,neutral,-0.957446819,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530T,NP_000240:p.Phe530Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.44794,3.66871,3.27796198125687,Destabilizing,Destabilizing,False,0.044,0.05336,,,-0.19839,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.4232,0.5486,-22.0592,loss_of_function,-4.98823278165826,0.35750662698786523,,,0.9884,pathogenic,0.040887993,neutral,-0.962795911,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530V,NP_000240:p.Phe530Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.32612,2.72177,2.3025049087189378,Uncertain,Uncertain,False,0.044,0.05016,,,0.04241,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,E,-0.3362,0.5486,-22.0592,loss_of_function,-4.36530903130365,0.4344071681535367,,,0.8303,pathogenic,0.150135769,stabilizing,-0.875167748,damaging,https://doi.org/10.1101/2022.10.22.513328 +F530W,NP_000240:p.Phe530Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.78563,1.48231,1.1400277535858083,Uncertain,Uncertain,False,0.044,0.37582,,,0.15482,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.56,E,-0.2485,0.5486,-7.7714,loss_of_function,-2.50878157194469,0.6635972836891222,,,0.8567,pathogenic,0.031217898,neutral,-0.176490353,neutral,https://doi.org/10.1101/2022.10.22.513328 +F530Y,NP_000240:p.Phe530Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8056,1.05544,1.1332533447590545,Neutral,Neutral,False,0.044,-0.02704,,,0.06505,,,,Neutral,,6.4,,False,6.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.56,E,-0.1957,0.5486,-3.6422,loss_of_function,-0.552027652530799,0.9051604529298459,,,0.4739,ambiguous,0.131661349,stabilizing,-0.459733306,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531A,NP_000240:p.Val531Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40679,1.59354,1.3654533590977835,Neutral,Neutral,False,0.06,1.41464,,,0.83614,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.3168,0.3621,-22.0625,loss_of_function,-5.64177062225106,0.2768267466891597,,,0.9201,pathogenic,0.074066196,neutral,-0.337092852,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531C,NP_000240:p.Val531Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49753,1.46973,1.503598965186544,Neutral,Neutral,False,0.06,0.89794,,,0.77497,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.2768,0.3621,-8.7746,loss_of_function,-5.64177062225106,0.2768267466891597,,,0.9871,pathogenic,0.061094708,neutral,-0.057301023,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531D,NP_000240:p.Val531Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06087,2.42755,1.6493186736536372,Uncertain,Neutral,False,0.06,2.14436,,,1.15268,,,Uncertain,Destabilizing,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.4834,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9988,pathogenic,0.07254395,neutral,-1.002113107,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531E,NP_000240:p.Val531Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77059,1.98435,1.207581187714651,Neutral,Neutral,False,0.06,2.45058,,,1.04214,,,Uncertain,Destabilizing,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,-,-,uncertain,neutral,1775947,Uncertain significance,1,91.51,E,-0.4407,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9957,pathogenic,0.017015942,neutral,-0.553333381,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531F,NP_000240:p.Val531Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32903,0.89592,0.7067336532792942,Neutral,Neutral,False,0.06,6.93554,,,0.66864,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.3939,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9637,pathogenic,0.00401875,neutral,-0.258365383,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531G,NP_000240:p.Val531Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53136,3.24184,2.2358816462875843,Uncertain,Uncertain,False,0.06,2.02626,,,1.008,,,Uncertain,Destabilizing,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.4426,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9796,pathogenic,0.047653244,neutral,-0.663054212,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531H,NP_000240:p.Val531His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93942,1.43571,0.949222529505954,Neutral,Neutral,False,0.06,7.43274,,,0.70699,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.4863,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9985,pathogenic,-0.140236539,destabilizing,-0.098198422,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531I,NP_000240:p.Val531Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26506,0.18299,-0.0029866912639092,Neutral,Neutral,False,0.06,0.2292,,,-0.29021,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.1608,0.3621,-4.1309,loss_of_function,-0.763493986013351,0.8790547289566127,,,0.1405,benign,-0.069507781,neutral,0.080628254,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531K,NP_000240:p.Val531Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17226,0.90986,0.9960559388232254,Neutral,Neutral,False,0.06,0.0376,,,0.89621,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.4796,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9964,pathogenic,-0.223407576,destabilizing,-0.201460069,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531L,NP_000240:p.Val531Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56702,0.36667,0.1489520745119399,Neutral,Neutral,False,0.06,0.12722,,,-0.30805,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.3174,0.3621,-22.0625,loss_of_function,-3.11587985658608,0.5886504116151374,,,0.8922,pathogenic,-0.088423729,destabilizing,0.063710879,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531M,NP_000240:p.Val531Met,"hg19,3:g.37081709G>A, hg38,3:g.37040218G>A",,7.9604524721e-06,0.759,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34124,1.1483,0.551009305560583,Neutral,Neutral,False,0.06,0.97872,,,0.43616,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,188166,Uncertain significance,2,91.51,E,-0.3265,0.3621,-22.0625,loss_of_function,-3.68073781320477,0.5189181490051713,,,0.9218,pathogenic,-0.168012501,destabilizing,-0.271022974,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531N,NP_000240:p.Val531Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0416,1.89422,1.0512121692716274,Neutral,Neutral,False,0.06,1.81684,,,0.74827,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.4712,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9971,pathogenic,0.17613475,stabilizing,-0.847893213,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531P,NP_000240:p.Val531Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.87468,6.51327,4.489028808655889,Destabilizing,Destabilizing,False,0.06,1.83676,,,1.1021,,,Uncertain,Destabilizing,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.5211,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9948,pathogenic,-0.86814303,destabilizing,-1.082353033,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531Q,NP_000240:p.Val531Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40796,1.22687,1.0146570233906778,Neutral,Neutral,False,0.06,2.82626,,,0.72998,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.51,E,-0.4513,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9944,pathogenic,-0.023991084,neutral,-0.395960106,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531R,NP_000240:p.Val531Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4852,1.06939,0.6373959749196978,Neutral,Neutral,False,0.06,1.2929,,,0.52259,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.5006,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.987,pathogenic,-0.230703031,destabilizing,-0.178439751,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531S,NP_000240:p.Val531Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88041,2.17313,1.7164097219994845,Uncertain,Neutral,False,0.06,1.14364,,,0.99082,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.4204,0.3621,-22.0625,loss_of_function,-5.64177062225106,0.2768267466891597,,,0.9723,pathogenic,0.141211965,stabilizing,-0.828169366,damaging,https://doi.org/10.1101/2022.10.22.513328 +V531T,NP_000240:p.Val531Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57384,1.31122,1.1344588453858957,Neutral,Neutral,False,0.06,0.83798,,,0.33515,,,Uncertain,Neutral,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.51,E,-0.268,0.3621,-8.7746,loss_of_function,-5.64177062225106,0.2768267466891597,,,0.8915,pathogenic,0.108095459,neutral,-0.496611754,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531W,NP_000240:p.Val531Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58259,1.27041,0.2949637703910762,Neutral,Neutral,False,0.06,6.16024,,,1.97516,,,Uncertain,Destabilizing,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.4345,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9987,pathogenic,-0.513835284,destabilizing,-0.496857362,neutral,https://doi.org/10.1101/2022.10.22.513328 +V531Y,NP_000240:p.Val531Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39144,0.68061,0.7422371622404053,Neutral,Neutral,False,0.06,11.74532,,,0.96607,,,Uncertain,Uncertain,Uncertain,45.3,,False,45.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.51,E,-0.4374,0.3621,-22.0625,loss_of_function,-5.85453908079574,0.2505602741140535,,,0.9972,pathogenic,-0.290855321,destabilizing,-0.248631075,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532A,NP_000240:p.Gly532Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.46524,-0.57925,0.5008034494404012,Uncertain,Uncertain,False,0.054,2.93208,,,1.80044,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.2729,0.2517,-5.0743,loss_of_function,-2.98437637249467,0.6048846442736994,,,0.7197,pathogenic,-0.122501354,destabilizing,-0.0526099,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532C,NP_000240:p.Gly532Cys,"hg19,3:g.37081712G>T",,,0.895,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31134,-0.35102,1.035760749748101,Uncertain,Uncertain,False,0.054,4.98264,,,3.04361,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,231556,Uncertain significance,2,90.28,E,-0.4193,0.2517,-22.0625,loss_of_function,-4.90952598914804,0.36722305686231543,,,0.9313,pathogenic,-0.124911711,destabilizing,-0.219082106,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532D,NP_000240:p.Gly532Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37571,-0.12823,0.4392076424489166,Uncertain,Uncertain,False,0.054,8.33242,,,2.92752,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,976474,Conflicting classifications of pathogenicity,1,90.28,E,-0.4199,0.2517,-22.0625,loss_of_function,-4.02662377970513,0.47621819095998974,,,0.9839,pathogenic,-0.207150383,destabilizing,0.019476157,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532E,NP_000240:p.Gly532Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14189,-0.05238,0.5743607244867002,Uncertain,Uncertain,False,0.054,6.36114,,,3.08283,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4192,0.2517,-22.0625,loss_of_function,-5.1371490229982,0.3391227725580413,,,0.9931,pathogenic,-0.246726149,destabilizing,-0.006318636,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532F,NP_000240:p.Gly532Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12053,-0.13435,-0.0671696533690263,Uncertain,Uncertain,False,0.054,9.49418,,,4.83368,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4575,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9946,pathogenic,-0.292507706,destabilizing,-0.084431762,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532H,NP_000240:p.Gly532His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.98908,-0.27823,-0.0698243098349482,Uncertain,Uncertain,False,0.054,8.42434,,,3.80763,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4322,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9961,pathogenic,-0.051319865,neutral,0.470432401,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532I,NP_000240:p.Gly532Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06359,0.25306,0.7978283947312722,Uncertain,Uncertain,False,0.054,14.48024,,,3.89958,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.5031,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9907,pathogenic,-0.265877432,destabilizing,-0.092117368,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532K,NP_000240:p.Gly532Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66376,-0.18946,0.2451817334829126,Neutral,Neutral,False,0.054,6.99148,,,5.22007,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4521,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9971,pathogenic,-0.305639032,destabilizing,0.284908953,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532L,NP_000240:p.Gly532Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55427,-0.81973,-0.0901923282577138,Neutral,Neutral,False,0.054,8.19468,,,4.03975,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4714,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.988,pathogenic,-0.160526326,destabilizing,0.254049085,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532M,NP_000240:p.Gly532Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.3881,-0.48673,0.1863667250177864,Neutral,Neutral,False,0.054,6.59768,,,2.21054,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4096,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9942,pathogenic,-0.167320583,destabilizing,-0.148178564,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532N,NP_000240:p.Gly532Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.8209,-0.38401,0.1877921831980561,Uncertain,Uncertain,False,0.054,7.50706,,,2.87128,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4202,0.2517,-22.0625,loss_of_function,-5.1371490229982,0.3391227725580413,,,0.9902,pathogenic,-0.099690525,destabilizing,0.390349636,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532P,NP_000240:p.Gly532Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99172,3.98435,4.632763947567702,Destabilizing,Destabilizing,False,0.054,9.30752,,,4.54213,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.5173,0.2517,-22.0625,loss_of_function,-4.13196855859188,0.46321327583071836,,,0.9994,pathogenic,-1.481081121,destabilizing,-1.099891837,damaging,https://doi.org/10.1101/2022.10.22.513328 +G532Q,NP_000240:p.Gly532Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82691,-0.77925,0.5732727413698091,Neutral,Neutral,False,0.054,6.40044,,,4.66702,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4231,0.2517,-22.0625,loss_of_function,-5.1371490229982,0.3391227725580413,,,0.9929,pathogenic,-0.24999876,destabilizing,0.539563923,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532R,NP_000240:p.Gly532Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.74782,-0.68707,-0.0357525620266158,Neutral,Neutral,False,0.054,8.1481,,,2.58078,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4362,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9886,pathogenic,-0.450016974,destabilizing,0.308658177,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532S,NP_000240:p.Gly532Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.77815,-0.24422,0.601899171654719,Uncertain,Uncertain,False,0.054,4.11602,,,1.71103,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,489891,Uncertain significance,2,90.28,E,-0.2896,0.2517,-7.1898,loss_of_function,-4.90952598914804,0.36722305686231543,,,0.7728,pathogenic,-0.160151685,destabilizing,0.219694883,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532T,NP_000240:p.Gly532Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37728,-0.83163,0.6759705090541751,Uncertain,Uncertain,False,0.054,9.51938,,,4.76015,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4424,0.2517,-22.0625,loss_of_function,-4.90952598914804,0.36722305686231543,,,0.9672,pathogenic,-0.248835508,destabilizing,0.00435116,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532V,NP_000240:p.Gly532Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40098,0.27041,0.757129675442921,Uncertain,Uncertain,False,0.054,9.99672,,,4.62125,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4464,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9795,pathogenic,-0.086991766,destabilizing,-0.347050275,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532W,NP_000240:p.Gly532Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60249,0.12891,-0.3936903110470485,Uncertain,Uncertain,False,0.054,9.30586,,,6.41502,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4572,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9908,pathogenic,-0.317570493,destabilizing,0.051561734,neutral,https://doi.org/10.1101/2022.10.22.513328 +G532Y,NP_000240:p.Gly532Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31777,-0.21122,0.0567298644008174,Uncertain,Uncertain,False,0.054,8.5391,,,1.57147,,,Uncertain,Destabilizing,Uncertain,67.5,,False,67.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.28,E,-0.4578,0.2517,-22.0625,loss_of_function,-5.87713950418377,0.24777022992626418,,,0.9919,pathogenic,-0.307766866,destabilizing,-0.126597937,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533A,NP_000240:p.Cys533Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38278,0.58605,0.9599741554165164,Neutral,Neutral,False,0.05,-0.06522,,,-0.01515,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.92,E,-0.2316,1.9783,-6.7748,loss_of_function,-1.6236153244965,0.7728719154744773,,,0.518,ambiguous,0.001460859,neutral,0.068232502,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533D,NP_000240:p.Cys533Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05215,2.0051,2.7744432142452244,Uncertain,Uncertain,False,0.05,0.00726,,,0.06466,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.92,E,-0.4168,1.9783,-22.0625,loss_of_function,-4.22539795268843,0.4516793265107326,,,0.9646,pathogenic,-0.175889987,destabilizing,-0.985428727,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533E,NP_000240:p.Cys533Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76834,1.71599,2.6134906700213767,Neutral,Uncertain,False,0.05,-0.08256,,,0.35638,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.4045,1.9783,-22.0625,loss_of_function,-4.22539795268843,0.4516793265107326,,,0.9751,pathogenic,-0.003091834,neutral,-0.959507978,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533F,NP_000240:p.Cys533Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.87106,0.31531,0.9118937016248998,Uncertain,Uncertain,False,0.05,0.28786,,,0.59351,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1518170,Uncertain significance,1,88.92,E,-0.2239,1.9783,-6.4528,loss_of_function,-2.84366983201632,0.6222550031694308,,,0.5436,ambiguous,-0.080474729,neutral,-0.018782566,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533G,NP_000240:p.Cys533Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12402,2.39014,3.191365882337458,Uncertain,Uncertain,False,0.05,0.00514,,,-0.07087,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819636,Uncertain significance,1,88.92,E,-0.2342,1.9783,-8.7746,loss_of_function,-5.30308393297218,0.31863794697864745,,,0.3631,ambiguous,0.060775224,neutral,-1.096054451,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533H,NP_000240:p.Cys533His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.94016,0.56633,1.6296753802712896,Uncertain,Uncertain,False,0.05,0.05828,,,0.73005,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.4153,1.9783,-22.0625,loss_of_function,-4.56024207583207,0.4103424947376108,,,0.888,pathogenic,-0.0563875,neutral,0.020162626,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533I,NP_000240:p.Cys533Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45296,-0.41735,-0.2429755533009508,Neutral,Neutral,False,0.05,0.08632,,,0.5775,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.2336,1.9783,-2.508,loss_of_function,-2.09760951205599,0.7143568732851925,,,0.6589,pathogenic,-0.069104387,neutral,0.061055334,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533K,NP_000240:p.Cys533Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.39838,2.5432,4.64257671969554,Uncertain,Destabilizing,False,0.05,0.25572,,,1.13336,,,,Uncertain,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.4051,1.9783,-22.0625,loss_of_function,-5.30308393297218,0.31863794697864745,,,0.9825,pathogenic,-0.712350396,destabilizing,-1.055565383,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533L,NP_000240:p.Cys533Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06026,-0.02755,-0.439165675000881,Neutral,Neutral,False,0.05,-0.05728,,,0.49274,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.277,1.9783,-4.5269,loss_of_function,-1.57628991355798,0.7787142833565627,,,0.6945,pathogenic,-0.041282412,neutral,-0.08754837,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533M,NP_000240:p.Cys533Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30679,0.41259,0.3272986777325215,Neutral,Neutral,False,0.05,0.13594,,,0.76396,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.2506,1.9783,-5.7748,loss_of_function,-2.50758712324582,0.663744739539514,,,0.7847,pathogenic,-0.018786758,neutral,-0.383919974,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533N,NP_000240:p.Cys533Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12885,0.56905,1.087606439636273,Neutral,Neutral,False,0.05,-0.0614,,,0.01505,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.3592,1.9783,-22.0625,loss_of_function,-4.22539795268843,0.4516793265107326,,,0.808,pathogenic,0.044202196,neutral,-0.013848418,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533P,NP_000240:p.Cys533Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.53396,-0.00442,4.739404887321557,Neutral,Uncertain,False,0.05,-0.21604,,,-0.04043,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.92,E,-0.355,1.9783,-7.7747,loss_of_function,-3.34671442691683,0.5601536600174103,,,0.9345,pathogenic,0.148824492,stabilizing,-0.681466041,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533Q,NP_000240:p.Cys533Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95232,0.6432,1.4864035360381804,Neutral,Neutral,False,0.05,-0.07494,,,0.0383,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.3832,1.9783,-22.0625,loss_of_function,-3.01134594635542,0.601555224222339,,,0.9318,pathogenic,0.084354556,neutral,-0.885267845,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533R,NP_000240:p.Cys533Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.83589,1.76463,3.25862488115539,Uncertain,Destabilizing,False,0.05,0.95174,,,0.78934,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.294,1.9783,-8.7746,loss_of_function,-5.30308393297218,0.31863794697864745,,,0.8903,pathogenic,-0.3135411,destabilizing,-0.864225576,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533S,NP_000240:p.Cys533Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0016,1.13333,2.212166942367603,Neutral,Uncertain,False,0.05,0.00916,,,0.08337,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,479666,Uncertain significance,2,88.92,E,-0.2142,1.9783,-5.1898,loss_of_function,-0.514017303208409,0.9098528674205827,,,0.3825,ambiguous,-0.023342602,neutral,-0.112057289,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533T,NP_000240:p.Cys533Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08643,-0.27653,0.7945732171960198,Neutral,Neutral,False,0.05,0.0312,,,0.07154,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.2672,1.9783,-8.7746,loss_of_function,-2.41311076405715,0.6754079377155912,,,0.5447,ambiguous,0.051568467,neutral,0.064605826,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533V,NP_000240:p.Cys533Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.52077,-0.91497,-0.3206691689999397,Neutral,Neutral,False,0.05,0.16556,,,0.10328,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.2334,1.9783,-2.8441,loss_of_function,-2.3507409082327,0.6831075569107089,,,0.5246,ambiguous,-0.031385425,neutral,0.088124477,neutral,https://doi.org/10.1101/2022.10.22.513328 +C533W,NP_000240:p.Cys533Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.04236,0.24558,2.617289910184068,Uncertain,Uncertain,False,0.05,0.0828,,,0.76337,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.92,E,-0.3067,1.9783,-22.0625,loss_of_function,-4.56024207583207,0.4103424947376108,,,0.8434,pathogenic,0.02278996,neutral,-0.608122049,damaging,https://doi.org/10.1101/2022.10.22.513328 +C533Y,NP_000240:p.Cys533Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.42751,-0.0051,2.1651636144783835,Uncertain,Uncertain,False,0.05,0.2581,,,0.33255,,,,Neutral,,2.6,,False,2.6,,neutral,neutral,neutral,UP,-,neutral,neutral,455396,Uncertain significance,2,88.92,E,-0.3129,1.9783,-22.0625,loss_of_function,-4.56024207583207,0.4103424947376108,,,0.721,pathogenic,-0.078276727,neutral,-0.040752846,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534A,NP_000240:p.Val534Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58681,1.81973,1.1857380397690802,Neutral,Neutral,False,0.023,1.98218,,,0.0845,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.1709,0.9496,-4.0743,loss_of_function,-1.07692518368951,0.840361343601214,,,0.5414,ambiguous,0.186159054,stabilizing,-0.15660401,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534C,NP_000240:p.Val534Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36461,1.57109,1.5597955231860996,Neutral,Neutral,False,0.023,1.78296,,,0.40031,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.2906,0.9496,-22.0625,loss_of_function,-4.27423825912619,0.445649943309943,,,0.8808,pathogenic,0.030158621,neutral,0.184821015,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534D,NP_000240:p.Val534Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44884,1.6602,1.2744503533985745,Neutral,Neutral,False,0.023,3.40526,,,0.64645,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.4293,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9808,pathogenic,0.095650339,neutral,-1.009912298,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534E,NP_000240:p.Val534Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05734,1.03469,0.9636093960831156,Neutral,Neutral,False,0.023,4.42018,,,1.02111,,,Uncertain,Destabilizing,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.87,S,-0.3866,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9507,pathogenic,0.18024585,stabilizing,-0.942930995,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534F,NP_000240:p.Val534Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11891,0.23946,0.394489706905895,Neutral,Neutral,False,0.023,2.55278,,,0.17094,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.3399,0.9496,-22.0625,loss_of_function,-4.2302365494148,0.45108199705182456,,,0.6715,pathogenic,0.104357149,neutral,-0.252044799,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534G,NP_000240:p.Val534Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.45434,2.75578,2.040328969413779,Uncertain,Uncertain,False,0.023,2.83742,,,0.69058,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1359423,Uncertain significance,1,87.87,S,-0.3885,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.7887,pathogenic,0.153170477,stabilizing,-0.948713912,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534H,NP_000240:p.Val534His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81878,0.86497,0.7988569651652252,Neutral,Neutral,False,0.023,5.27688,,,0.13781,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.4323,0.9496,-22.0625,loss_of_function,-4.9874993764491,0.35759716657227825,,,0.982,pathogenic,0.205513983,stabilizing,-0.736624566,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534I,NP_000240:p.Val534Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.41528,-0.61327,-0.18724687771831,Neutral,Neutral,False,0.023,1.0333,,,0.14367,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.1031,0.9496,-3.4172,loss_of_function,-0.619131590935519,0.8968764066485262,,,0.0929,benign,0.055871368,neutral,0.069565096,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534K,NP_000240:p.Val534Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67651,1.00442,0.820301314204371,Neutral,Neutral,False,0.023,4.83254,,,1.7893,,,Uncertain,Destabilizing,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.4256,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9632,pathogenic,0.194935761,stabilizing,-0.953909254,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534L,NP_000240:p.Val534Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.01794,-0.4398,-0.1587948641889636,Neutral,Neutral,False,0.023,1.24672,,,-0.06305,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.1793,0.9496,-5.6049,loss_of_function,-1.608634481598,0.7747213150604728,,,0.5174,ambiguous,-0.089170951,destabilizing,-0.11775058,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534M,NP_000240:p.Val534Met,"hg19,3:g.37081718G>A",,,0.670,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.20241,1.00408,0.3162654591991132,Neutral,Neutral,False,0.023,1.05384,,,0.80725,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.2046,0.9496,-8.7746,loss_of_function,-0.654759519310881,0.892478104334451,,,0.3943,ambiguous,0.033363653,neutral,-0.135690443,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534N,NP_000240:p.Val534Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84586,1.40136,0.917171311593918,Neutral,Neutral,False,0.023,2.57896,,,0.82788,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.4172,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9472,pathogenic,0.158734207,stabilizing,-1.041469978,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534P,NP_000240:p.Val534Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87477,3.81395,5.34369742999097,Uncertain,Uncertain,False,0.023,3.13528,,,-0.02624,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.467,0.9496,-22.0625,loss_of_function,-4.15831832677121,0.4599603713918895,,,0.9685,pathogenic,0.050138568,neutral,-0.026792436,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534Q,NP_000240:p.Val534Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01314,0.65578,0.9777190232837416,Neutral,Neutral,False,0.023,3.49304,,,0.89591,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.87,S,-0.3294,0.9496,-8.7746,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9341,pathogenic,0.132392552,stabilizing,-0.956406659,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534R,NP_000240:p.Val534Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40163,1.12347,0.4080140867839521,Neutral,Neutral,False,0.023,7.20414,,,2.46693,,,Uncertain,Destabilizing,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.4466,0.9496,-22.0625,loss_of_function,-5.29300148168192,0.3198826353695719,,,0.9352,pathogenic,0.154339664,stabilizing,-0.881720131,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534S,NP_000240:p.Val534Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95755,1.97551,1.4503351444050196,Neutral,Neutral,False,0.023,3.1724,,,0.71879,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.3664,0.9496,-22.0625,loss_of_function,-3.95287802093908,0.48532217640693076,,,0.7732,pathogenic,0.10949231,neutral,-0.723632444,damaging,https://doi.org/10.1101/2022.10.22.513328 +V534T,NP_000240:p.Val534Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40731,1.33061,0.8123086570525286,Neutral,Neutral,False,0.023,1.43936,,,0.35493,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.87,S,-0.2817,0.9496,-22.0625,loss_of_function,-4.27423825912619,0.445649943309943,,,0.6958,pathogenic,0.074168632,neutral,-0.484281697,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534W,NP_000240:p.Val534Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2344,0.08231,0.0875890214214764,Neutral,Neutral,False,0.023,5.77732,,,0.80821,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.3804,0.9496,-22.0625,loss_of_function,-4.9874993764491,0.35759716657227825,,,0.9857,pathogenic,0.291583022,stabilizing,-0.111276856,neutral,https://doi.org/10.1101/2022.10.22.513328 +V534Y,NP_000240:p.Val534Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10612,1.32857,0.5919985768726551,Neutral,Neutral,False,0.023,3.41856,,,0.01526,,,Uncertain,Uncertain,Uncertain,55.9,,False,55.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.87,S,-0.3833,0.9496,-22.0625,loss_of_function,-4.9874993764491,0.35759716657227825,,,0.9589,pathogenic,0.184719176,stabilizing,-0.423440722,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535A,NP_000240:p.Asn535Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.64067,-0.00714,0.5752496465527243,Neutral,Neutral,False,0.012,-0.02012,,,0.05073,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.78,S,-0.1747,1.6658,-22.0625,loss_of_function,-1.60744271688186,0.7748684395705934,,,0.2828,benign,0.013742824,neutral,-0.144014932,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535C,NP_000240:p.Asn535Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24472,-0.27483,0.8833738313546365,Neutral,Neutral,False,0.012,-0.24842,,,-0.16298,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.78,S,-0.2246,1.6658,-22.0625,loss_of_function,-2.44469838134051,0.6715084157245903,,,0.2643,benign,0.005306002,neutral,-0.014205901,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535D,NP_000240:p.Asn535Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1099,1.02279,0.1174961846052191,Neutral,Neutral,False,0.012,0.25854,,,-0.08401,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,1776217,Uncertain significance,1,86.78,S,-0.0708,1.6658,-1.0674,loss_of_function,-0.274893516735262,0.9393729307909411,,,0.093,benign,0.022812031,neutral,0.106285944,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535E,NP_000240:p.Asn535Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.67905,-0.08946,0.4462031680254913,Neutral,Neutral,False,0.012,0.94144,,,0.16172,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.1292,1.6658,-7.1898,loss_of_function,-0.963104594123465,0.8544126057796779,,,0.4647,ambiguous,-0.040403299,neutral,-0.129564832,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535F,NP_000240:p.Asn535Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.84426,0.27755,0.1282023957468531,Neutral,Neutral,False,0.012,0.4791,,,0.20893,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.2319,1.6658,-22.0625,loss_of_function,-2.64863438154137,0.646332318698781,,,0.6644,pathogenic,0.200404567,stabilizing,-0.98415888,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535G,NP_000240:p.Asn535Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2968,0.62959,1.2963474333207328,Neutral,Neutral,False,0.012,-0.15212,,,0.1196,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.78,S,-0.2055,1.6658,-22.0625,loss_of_function,-2.77937345740001,0.6301924529779672,,,0.2849,benign,0.05432342,neutral,-0.031593363,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535H,NP_000240:p.Asn535His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90047,0.73163,0.1296759771204153,Neutral,Neutral,False,0.012,1.55978,,,0.18329,,,Uncertain,Uncertain,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.1797,1.6658,-22.0625,loss_of_function,-2.78801569638663,0.6291255601928136,,,0.1369,benign,0.099417631,neutral,-0.552693309,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535I,NP_000240:p.Asn535Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94415,0.21327,0.2042147806289734,Neutral,Neutral,False,0.012,-0.34084,,,-0.07196,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.225,1.6658,-22.0625,loss_of_function,-3.48805026191952,0.5427056141022855,,,0.4287,ambiguous,0.04798752,neutral,-0.879749612,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535K,NP_000240:p.Asn535Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07001,0.53605,0.6617900975660262,Neutral,Neutral,False,0.012,-0.22578,,,-0.86615,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.0999,1.6658,-6.7748,loss_of_function,-1.87447769315246,0.741902712748199,,,0.4846,ambiguous,-0.053273119,neutral,-0.570854682,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535L,NP_000240:p.Asn535Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67366,-0.03605,-0.0402588273964338,Neutral,Neutral,False,0.012,-0.26514,,,-0.14796,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.2314,1.6658,-22.0625,loss_of_function,-3.48805026191952,0.5427056141022855,,,0.3443,ambiguous,0.132445152,stabilizing,-0.724710773,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535M,NP_000240:p.Asn535Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11919,0.07143,0.3738808930308374,Neutral,Neutral,False,0.012,-0.8716,,,0.1106,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.1856,1.6658,-22.0625,loss_of_function,-3.48805026191952,0.5427056141022855,,,0.4184,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +N535P,NP_000240:p.Asn535Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.90208,7.54218,2.856223486161854,Uncertain,Uncertain,False,0.012,0.9662,,,0.15536,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.78,S,-0.3403,1.6658,-22.0625,loss_of_function,-3.48805026191952,0.5427056141022855,,,0.8888,pathogenic,-0.552846968,destabilizing,-1.050862337,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535Q,NP_000240:p.Asn535Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57719,0.29694,0.4278205608637747,Neutral,Neutral,False,0.012,-0.3239,,,0.20746,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.1687,1.6658,-22.0625,loss_of_function,-2.23175306813159,0.6977967211795312,,,0.4758,ambiguous,0.094569167,neutral,-0.452639996,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535R,NP_000240:p.Asn535Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39875,0.32551,0.4993517183814111,Neutral,Neutral,False,0.012,-0.30134,,,-0.66806,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.1423,1.6658,-8.7746,loss_of_function,-2.99686891173153,0.6033424281881816,,,0.5515,ambiguous,0.203296546,stabilizing,-0.990859279,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535S,NP_000240:p.Asn535Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59135,-0.90204,0.5289265054579286,Neutral,Neutral,False,0.012,0.22354,,,-0.13526,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.78,S,-0.0468,1.6658,-2.8921,loss_of_function,-0.348749929523157,0.9302552849976781,,,0.0629,benign,0.085741552,neutral,0.046097987,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535T,NP_000240:p.Asn535Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.27652,-0.8,0.3699932108593423,Uncertain,Uncertain,False,0.012,0.29064,,,-0.22861,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.78,S,-0.1111,1.6658,-5.7748,loss_of_function,-0.429851956829804,0.9202431610644297,,,0.1017,benign,-0.011738867,neutral,0.021350533,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535V,NP_000240:p.Asn535Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06512,-0.12585,0.2255661119309776,Uncertain,Uncertain,False,0.012,-0.35788,,,-0.13005,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.2183,1.6658,-22.0625,loss_of_function,-3.48805026191952,0.5427056141022855,,,0.421,ambiguous,0.104355029,neutral,-0.353549515,neutral,https://doi.org/10.1101/2022.10.22.513328 +N535W,NP_000240:p.Asn535Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52152,4.63571,-0.2258637105281041,Uncertain,Neutral,False,0.012,0.70642,,,-0.18974,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.237,1.6658,-22.0625,loss_of_function,-2.78801569638663,0.6291255601928136,,,0.8547,pathogenic,0.137492933,stabilizing,-0.983931349,damaging,https://doi.org/10.1101/2022.10.22.513328 +N535Y,NP_000240:p.Asn535Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.81244,0.26837,0.170639023989646,Neutral,Neutral,False,0.012,0.188,,,0.18636,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.78,S,-0.2154,1.6658,-22.0625,loss_of_function,-2.78801569638663,0.6291255601928136,,,0.2673,benign,0.237475918,stabilizing,-0.981474979,damaging,https://doi.org/10.1101/2022.10.22.513328 +P536A,NP_000240:p.Pro536Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.72465,-0.65476,-0.9529908331948878,Uncertain,Uncertain,False,0.008,0.01558,,,-0.05072,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.11,S,0.0066,2.7429,-6.1865,gain_of_function,-0.840371623762628,0.8695641100115293,,,0.123,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +P536C,NP_000240:p.Pro536Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89743,-0.11599,-0.2411485234317745,Uncertain,Uncertain,False,0.008,0.03186,,,-0.15808,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,85.11,S,-0.021,2.7429,-5.1865,loss_of_function,-2.18673424921452,0.7033543380393656,,,0.5241,ambiguous,-0.050585117,neutral,-0.205430771,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536D,NP_000240:p.Pro536Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.65789,2.32313,1.0945969180465789,Uncertain,Uncertain,False,0.008,-0.2615,,,-0.11631,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,85.11,S,-0.0404,2.7429,-3.9135,loss_of_function,-1.90157104939113,0.7385580116422258,,,0.7246,pathogenic,0.058849949,neutral,-0.957929474,damaging,https://doi.org/10.1101/2022.10.22.513328 +P536E,NP_000240:p.Pro536Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46844,0.9102,0.8388988044847723,Uncertain,Uncertain,False,0.008,-0.12,,,-0.19612,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.018,2.7429,-2.7054,loss_of_function,-1.69815570670289,0.7636698329931075,,,0.4125,ambiguous,0.001081509,neutral,0.084318885,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536F,NP_000240:p.Pro536Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.52556,-0.65918,0.6660616548356731,Uncertain,Uncertain,False,0.008,-0.19122,,,0.25662,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.0626,2.7429,-7.7714,loss_of_function,-2.98021530018842,0.6053983326858011,,,0.6686,pathogenic,-0.067242622,neutral,-0.200223495,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536G,NP_000240:p.Pro536Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.47694,1.41122,0.6842294896739642,Uncertain,Uncertain,False,0.008,-0.00044,,,0.08184,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.11,S,-0.0129,2.7429,-7.1865,loss_of_function,-3.96458795166939,0.48387657410061197,,,0.5066,ambiguous,0.102941433,neutral,-0.167416569,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536H,NP_000240:p.Pro536His,"hg19,3:g.37081725C>A, hg38,3:g.37040234C>A",,,0.752,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.44499,0.69286,0.9903723520309476,Uncertain,Uncertain,False,0.008,-0.0293,,,0.17704,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,1776310,Uncertain significance,1,85.11,S,-0.0291,2.7429,-5.6016,loss_of_function,-1.93689277856922,0.7341975099160416,,,0.2839,benign,-0.114509916,destabilizing,0.051417826,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536I,NP_000240:p.Pro536Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.77644,0.21871,-0.3434058604979645,Uncertain,Uncertain,False,0.008,-0.18154,,,0.18919,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.1185,2.7429,-22.0592,loss_of_function,-3.85328565023149,0.49761695116712573,,,0.4234,ambiguous,-0.015503639,neutral,-0.028148683,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536K,NP_000240:p.Pro536Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.82873,0.93741,1.8818129453545969,Uncertain,Uncertain,False,0.008,0.02768,,,0.2627,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.0218,2.7429,-5.071,loss_of_function,-1.66960388405606,0.7671945831917596,,,0.4683,ambiguous,0.049162372,neutral,-0.108336609,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536L,NP_000240:p.Pro536Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.11211,0.43605,-0.5315297541907849,Uncertain,Uncertain,False,0.008,-0.22948,,,0.1463,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,489892,Uncertain significance,2,85.11,S,-0.0316,2.7429,-4.1276,loss_of_function,-1.43960047010035,0.7955887277288353,,,0.2002,benign,-0.063200246,neutral,-0.233955243,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536M,NP_000240:p.Pro536Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.35416,-0.31939,-0.0346135500410965,Uncertain,Uncertain,False,0.008,-0.31602,,,0.22777,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.0741,2.7429,-22.0592,loss_of_function,-2.68693319644292,0.6416042928525094,,,0.45,ambiguous,-0.066171539,neutral,-0.224671903,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536N,NP_000240:p.Pro536Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.44357,0.37041,0.1774874937408804,Uncertain,Uncertain,False,0.008,0.02018,,,0.07751,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,85.11,S,-0.0215,2.7429,-6.4495,loss_of_function,-1.98411195475639,0.7283682568170492,,,0.5771,pathogenic,0.119826851,stabilizing,-0.868821359,damaging,https://doi.org/10.1101/2022.10.22.513328 +P536Q,NP_000240:p.Pro536Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.27788,0.0932,0.4903632261639262,Uncertain,Uncertain,False,0.008,-0.30944,,,0.15268,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.0218,2.7429,-6.1865,loss_of_function,-1.92795231600804,0.7353012186907267,,,0.2452,benign,0.042984488,neutral,-0.076913347,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536R,NP_000240:p.Pro536Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.23134,0.66769,0.9853740029892673,Uncertain,Uncertain,False,0.008,-0.35878,,,0.16166,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.054,2.7429,-4.3792,loss_of_function,-2.48770625736194,0.6661990517156706,,,0.2534,benign,-0.062133148,neutral,-0.529906455,damaging,https://doi.org/10.1101/2022.10.22.513328 +P536S,NP_000240:p.Pro536Ser,"hg19,3:g.37081724C>T, hg38,3:g.37040233C>T",,,0.666,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.67686,1.16327,-0.2233113195080416,Uncertain,Uncertain,False,0.008,-0.0438,,,0.08394,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1714283,Uncertain significance,2,85.11,S,0.0107,2.7429,-5.4496,gain_of_function,-2.20156225786942,0.7015238059889791,,,0.1957,benign,0.030688658,neutral,0.057052955,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536T,NP_000240:p.Pro536Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.7879,0.88095,-0.5376705345264143,Uncertain,Uncertain,False,0.008,0.00248,,,0.03338,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,-,-,uncertain,neutral,819631,Uncertain significance,2,85.11,S,-0.0001,2.7429,-5.1865,loss_of_function,-2.57588732366991,0.6553130135516279,,,0.1722,benign,0.007339441,neutral,-0.164902083,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536V,NP_000240:p.Pro536Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.02566,1.31565,-0.9096761432113664,Uncertain,Uncertain,False,0.008,0.07968,,,0.12651,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,0.0057,2.7429,-6.4495,gain_of_function,-2.29555421670165,0.6899204075067327,,,0.2938,benign,0.090386967,neutral,0.071940988,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536W,NP_000240:p.Pro536Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.5569,-0.12313,1.3185983729812474,Uncertain,Uncertain,False,0.008,-0.04458,,,0.62255,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.148,2.7429,-22.0592,loss_of_function,-3.99051898643539,0.4806753627077953,,,0.7479,pathogenic,-0.008854198,neutral,-0.320694823,neutral,https://doi.org/10.1101/2022.10.22.513328 +P536Y,NP_000240:p.Pro536Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.56682,-0.17857,1.260214903337713,Uncertain,Uncertain,False,0.008,0.0142,,,0.37801,,,,Neutral,,10.9,,False,10.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.11,S,-0.0636,2.7429,-7.7714,loss_of_function,-2.84970087276687,0.6215104653391659,,,0.5911,pathogenic,-0.093131461,destabilizing,-0.160299355,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537A,NP_000240:p.Gln537Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34367,0.51463,0.3895109371517952,Neutral,Neutral,False,0.009,-0.12566,,,-0.08323,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,0.026,2.6388,-5.9674,gain_of_function,-2.47521686530489,0.6677408792787882,,,0.2648,benign,-0.003844245,neutral,-0.090145677,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537C,NP_000240:p.Gln537Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5069,0.94286,0.7526862157079428,Neutral,Neutral,False,0.009,-0.09766,,,0.03982,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,-0.0214,2.6388,-6.1898,loss_of_function,-2.06644462607523,0.718204208686873,,,0.6157,pathogenic,-0.009226614,neutral,-0.169673845,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537D,NP_000240:p.Gln537Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57707,0.48299,0.3646880760301668,Neutral,Neutral,False,0.009,0.23854,,,-0.29697,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,-0.056,2.6388,-5.0743,loss_of_function,-2.02257948039887,0.7236194034661744,,,0.4317,ambiguous,0.029847949,neutral,-0.114170286,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537E,NP_000240:p.Gln537Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25877,0.03537,0.1413478494176079,Neutral,Neutral,False,0.009,0.179,,,0.11099,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,0.0289,2.6388,-4.3825,gain_of_function,-1.04641935914353,0.8441273172295359,,,0.0843,benign,0.076689286,neutral,0.004256038,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537F,NP_000240:p.Gln537Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.06973,0.55136,-0.3794054692564219,Uncertain,Uncertain,False,0.009,-0.00658,,,-0.16461,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.1104,2.6388,-22.0625,loss_of_function,-4.04330480135861,0.47415890265765953,,,0.7139,pathogenic,-0.032869832,neutral,-0.991877009,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q537G,NP_000240:p.Gln537Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11543,1.9915,1.2797805334932375,Neutral,Neutral,False,0.009,-0.1052,,,0.10814,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,-0.0488,2.6388,-6.7748,loss_of_function,-3.77129764250896,0.5077384502420423,,,0.3119,benign,0.014618611,neutral,-0.234251276,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537H,NP_000240:p.Gln537His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45023,1.31497,-0.0984330272215533,Uncertain,Uncertain,False,0.009,-0.03654,,,-0.01269,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1776410,Uncertain significance,1,90.78,S,0.034,2.6388,-4.1898,gain_of_function,-2.35446324523289,0.6826480307976772,,,0.2708,benign,0.159915728,stabilizing,-0.470129555,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537I,NP_000240:p.Gln537Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04489,0.00306,-0.4999357982080704,Neutral,Neutral,False,0.009,-0.09752,,,-0.03871,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.0918,2.6388,-22.0625,loss_of_function,-4.36377504202073,0.43459654061835556,,,0.4296,ambiguous,0.195059052,stabilizing,-0.323448952,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537K,NP_000240:p.Gln537Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30668,0.90986,0.3516560826473242,Neutral,Neutral,False,0.009,-0.30474,,,0.26075,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.0039,2.6388,-5.3153,loss_of_function,-2.41922466771561,0.6746531703789745,,,0.117,benign,0.008321612,neutral,-0.133034969,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537L,NP_000240:p.Gln537Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.79765,0.23129,-0.5375828763926821,Neutral,Neutral,False,0.009,-0.13822,,,-0.14129,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.0022,2.6388,-7.7747,loss_of_function,-3.36461821860755,0.5579434195679972,,,0.1599,benign,0.186874843,stabilizing,-0.944523474,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q537M,NP_000240:p.Gln537Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43463,0.62993,-0.1733499022400747,Neutral,Neutral,False,0.009,-0.15626,,,0.2006,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,0.0217,2.6388,-8.7746,gain_of_function,-3.6626774369183,0.5211477199748037,,,0.4167,ambiguous,0.048971396,neutral,0.145405183,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537N,NP_000240:p.Gln537Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20524,0.36803,0.1955461123756391,Neutral,Neutral,False,0.009,-0.01976,,,-0.07668,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,0.0041,2.6388,-7.1898,gain_of_function,-2.05337661101159,0.7198174678213706,,,0.3644,ambiguous,-0.031182772,neutral,-0.238992059,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537P,NP_000240:p.Gln537Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41559,6.40272,3.034396594954356,Uncertain,Uncertain,False,0.009,-0.20804,,,0.56525,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,-0.2298,2.6388,-22.0625,loss_of_function,-4.30132241047389,0.44230637855668803,,,0.4195,ambiguous,0.188675388,stabilizing,-0.991890766,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q537R,NP_000240:p.Gln537Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16056,1.27483,0.0671781904904428,Neutral,Neutral,False,0.009,-0.35078,,,-0.21412,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,0.0096,2.6388,-2.9674,gain_of_function,-2.86828449419367,0.6192162992494553,,,0.112,benign,0.076612249,neutral,-0.196151337,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537S,NP_000240:p.Gln537Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62254,0.54524,0.6659582978203312,Neutral,Neutral,False,0.009,-0.11162,,,-0.13348,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,0.0207,2.6388,-3.3825,gain_of_function,-1.55847752439001,0.7809132400758894,,,0.3086,benign,-0.051981512,neutral,-0.166313942,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537T,NP_000240:p.Gln537Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09306,0.03537,0.1335280673760303,Neutral,Neutral,False,0.009,-0.11532,,,-0.07232,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.78,S,0.0067,2.6388,-4.1898,gain_of_function,-1.39715378635862,0.800828812006516,,,0.2449,benign,0.01351011,neutral,-0.058242186,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537V,NP_000240:p.Gln537Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02325,-0.22585,-0.4306779964743323,Neutral,Neutral,False,0.009,-0.11296,,,0.15614,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.78,S,-0.0097,2.6388,-5.9674,loss_of_function,-2.70772383614566,0.6390376682160093,,,0.3018,benign,0.007481066,neutral,-0.060010555,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q537W,NP_000240:p.Gln537Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78742,0.27823,-0.5512619483801062,Neutral,Neutral,False,0.009,-0.16256,,,-0.20154,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.1098,2.6388,-22.0625,loss_of_function,-2.94905046585374,0.6092456617117229,,,0.5683,pathogenic,0.03466999,neutral,-1.003232879,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q537Y,NP_000240:p.Gln537Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71759,0.10918,-0.217730838714012,Uncertain,Uncertain,False,0.009,-0.1017,,,-0.15896,,,Uncertain,Neutral,Uncertain,44.1,,False,44.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.78,S,-0.0398,2.6388,-7.7747,loss_of_function,-2.77470109706616,0.6307692603929832,,,0.4794,ambiguous,0.064626016,neutral,-0.838627737,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538A,NP_000240:p.Trp538Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48798,3.19354,2.838475149061469,Uncertain,Uncertain,False,0.022,2.2545,,,1.06169,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3438,2.5202,-22.0625,loss_of_function,-4.07644484952731,0.4700677315681342,,,0.7217,pathogenic,0.009699641,neutral,-0.884718339,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538C,NP_000240:p.Trp538Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16408,3.41156,3.0086408939528733,Uncertain,Uncertain,False,0.022,2.27788,,,0.96738,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2797,2.5202,-22.0625,loss_of_function,-4.07644484952731,0.4700677315681342,,,0.7587,pathogenic,-0.021610925,neutral,-0.845913112,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538D,NP_000240:p.Trp538Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29916,4.00578,3.308982650891464,Uncertain,Uncertain,False,0.022,2.74328,,,1.22043,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3681,2.5202,-22.0625,loss_of_function,-4.06691070793147,0.47124473059546756,,,0.9555,pathogenic,-0.065928096,neutral,-1.0754949,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538E,NP_000240:p.Trp538Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32285,2.87211,2.9449820964305875,Uncertain,Uncertain,False,0.022,2.3814,,,0.788,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3877,2.5202,-22.0625,loss_of_function,-4.06691070793147,0.47124473059546756,,,0.9236,pathogenic,0.107749549,neutral,-1.061133894,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538F,NP_000240:p.Trp538Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13085,0.53469,0.774939377911314,Neutral,Neutral,False,0.022,0.63682,,,0.10318,,,Uncertain,Neutral,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.1077,2.5202,-4.6873,loss_of_function,-1.01333222219662,0.8482119563774118,,,0.3633,ambiguous,0.002717704,neutral,0.045007445,neutral,https://doi.org/10.1101/2022.10.22.513328 +W538G,NP_000240:p.Trp538Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.91985,4.97823,4.340245748967686,Destabilizing,Destabilizing,False,0.022,2.6379,,,1.34489,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,633500,Uncertain significance,3,92.52,E,-0.2612,2.5202,-8.7746,loss_of_function,-4.94048144231901,0.363401576144136,,,0.5765,pathogenic,-0.203490013,destabilizing,-0.931106913,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538H,NP_000240:p.Trp538His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30929,2.52925,2.0297234374545936,Uncertain,Uncertain,False,0.022,0.7721,,,0.44449,,,Uncertain,Neutral,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.249,2.5202,-5.7748,loss_of_function,-1.0310029411061,0.8460304889889042,,,0.8066,pathogenic,0.064300292,neutral,-0.667267333,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538I,NP_000240:p.Trp538Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43339,1.88673,1.891570544516636,Neutral,Neutral,False,0.022,0.98292,,,0.7207,,,Uncertain,Neutral,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2568,2.5202,-7.7747,loss_of_function,-2.59089235570169,0.6534606277936675,,,0.7789,pathogenic,-0.038126359,neutral,0.085875984,neutral,https://doi.org/10.1101/2022.10.22.513328 +W538K,NP_000240:p.Trp538Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15207,2.82891,2.8430544472079697,Uncertain,Uncertain,False,0.022,1.14108,,,0.9931,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3088,2.5202,-4.2512,loss_of_function,-2.11960792478016,0.711641147897757,,,0.9208,pathogenic,-0.087495783,destabilizing,-1.039768427,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538L,NP_000240:p.Trp538Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41608,1.46599,1.4255143157037968,Neutral,Neutral,False,0.022,1.13156,,,0.80527,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.192,2.5202,-2.625,loss_of_function,-1.64052768765352,0.770784067839153,,,0.391,ambiguous,0.024766404,neutral,0.062466356,neutral,https://doi.org/10.1101/2022.10.22.513328 +W538M,NP_000240:p.Trp538Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63421,1.62687,1.9767378686093195,Neutral,Neutral,False,0.022,0.80762,,,0.66972,,,Uncertain,Neutral,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2304,2.5202,-7.7747,loss_of_function,-3.76969896993252,0.5079358079221837,,,0.6364,pathogenic,-0.082302081,destabilizing,-0.152022626,neutral,https://doi.org/10.1101/2022.10.22.513328 +W538N,NP_000240:p.Trp538Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26826,3.34558,2.654132271849494,Uncertain,Uncertain,False,0.022,2.09434,,,0.83883,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3764,2.5202,-22.0625,loss_of_function,-2.88627104768195,0.6169958417758614,,,0.8837,pathogenic,-0.006473913,neutral,-0.959916486,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538P,NP_000240:p.Trp538Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.87354,9.57517,6.236241916276335,Destabilizing,Destabilizing,False,0.022,2.33518,,,1.3455,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.4146,2.5202,-22.0625,loss_of_function,-4.94048144231901,0.363401576144136,,,0.9972,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W538Q,NP_000240:p.Trp538Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2463,2.63741,2.5209709258910555,Uncertain,Uncertain,False,0.022,2.2536,,,1.05777,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2805,2.5202,-5.0743,loss_of_function,-2.10939307967247,0.7129021804338542,,,0.8677,pathogenic,0.049462157,neutral,-0.990608472,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538R,NP_000240:p.Trp538Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44582,3.0102,2.2039897950014664,Uncertain,Uncertain,False,0.022,1.50966,,,1.22717,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.227,2.5202,-2.3485,loss_of_function,-1.63180610894026,0.7718607551905132,,,0.8789,pathogenic,-0.040172322,neutral,-0.979051442,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538S,NP_000240:p.Trp538Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.72891,3.77789,3.3749025366978738,Uncertain,Uncertain,False,0.022,2.68302,,,1.19826,,,Uncertain,Destabilizing,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2572,2.5202,-5.4529,loss_of_function,-2.39257921044799,0.6779425779225468,,,0.6359,pathogenic,0.054608844,neutral,-0.904915002,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538T,NP_000240:p.Trp538Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71291,3.24966,2.7966223637589835,Uncertain,Uncertain,False,0.022,2.03692,,,0.84087,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.3075,2.5202,-6.7748,loss_of_function,-2.89712535138375,0.6156558674560995,,,0.7317,pathogenic,0.065824491,neutral,-0.835720103,damaging,https://doi.org/10.1101/2022.10.22.513328 +W538V,NP_000240:p.Trp538Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29072,2.01871,2.039696458908554,Uncertain,Uncertain,False,0.022,1.55138,,,0.60943,,,Uncertain,Uncertain,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.2536,2.5202,-8.7746,loss_of_function,-3.76969896993252,0.5079358079221837,,,0.6592,pathogenic,-0.051696984,neutral,-0.015133348,neutral,https://doi.org/10.1101/2022.10.22.513328 +W538Y,NP_000240:p.Trp538Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51701,0.6966,1.0769830245629013,Neutral,Neutral,False,0.022,0.09044,,,0.19233,,,Uncertain,Neutral,Uncertain,29.0,,False,29.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.52,E,-0.1577,2.5202,-5.0743,loss_of_function,-1.0268584622621,0.8465421289219969,,,0.4622,ambiguous,-0.061824406,neutral,0.010364547,neutral,https://doi.org/10.1101/2022.10.22.513328 +A539C,NP_000240:p.Ala539Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03548,0.68707,1.0404629548615842,Neutral,Neutral,False,0.037,-0.05352,,,-0.1696,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.0546,2.1306,-4.618,loss_of_function,-1.4401275477642,0.7955236594800114,,,0.5906,pathogenic,0.045683107,neutral,-0.207205047,neutral,https://doi.org/10.1101/2022.10.22.513328 +A539D,NP_000240:p.Ala539Asp,"hg19,3:g.37081734C>A",,,0.725,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.6596,3.20782,3.0539228362822817,Destabilizing,Destabilizing,False,0.037,0.12986,,,0.13751,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1343456,Conflicting classifications of pathogenicity,1,93.13,E,-0.2254,2.1306,-22.0756,loss_of_function,-4.56664144289161,0.4095524866672551,,,0.9781,pathogenic,-1.252502639,destabilizing,-0.974714598,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539E,NP_000240:p.Ala539Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.04334,6.39524,3.7354590348068486,Destabilizing,Destabilizing,False,0.037,0.17086,,,0.09818,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.2111,2.1306,-22.0756,loss_of_function,-4.56664144289161,0.4095524866672551,,,0.9682,pathogenic,-1.280123177,destabilizing,-1.0415213,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539F,NP_000240:p.Ala539Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.23858,7.11735,3.245221583108775,Destabilizing,Destabilizing,False,0.037,0.13756,,,0.29011,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1938,2.1306,-22.0756,loss_of_function,-3.1950477801977,0.5788770546589603,,,0.8756,pathogenic,0.013625094,neutral,-1.044401553,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539G,NP_000240:p.Ala539Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50969,2.32517,2.4026061456241963,Uncertain,Uncertain,False,0.037,0.0247,,,-0.05288,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,E,-0.0592,2.1306,-6.7879,loss_of_function,-2.56948341233986,0.6561035826165856,,,0.2912,benign,0.112080728,stabilizing,-0.248628308,neutral,https://doi.org/10.1101/2022.10.22.513328 +A539H,NP_000240:p.Ala539His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.48484,5.31327,3.3689120305335187,Destabilizing,Destabilizing,False,0.037,0.0106,,,0.12447,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1979,2.1306,-22.0756,loss_of_function,-3.63860186497542,0.524119872682461,,,0.9744,pathogenic,-0.158085264,destabilizing,-1.051562085,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539I,NP_000240:p.Ala539Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.78028,1.76769,1.112800544212995,Uncertain,Uncertain,False,0.037,0.1222,,,0.10871,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1834,2.1306,-22.0756,loss_of_function,-2.93127941903043,0.6114395146785028,,,0.5867,pathogenic,0.058162849,neutral,-0.562113716,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539K,NP_000240:p.Ala539Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.495,8.23844,4.693867134851426,Destabilizing,Destabilizing,False,0.037,0.03102,,,-0.00768,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.2157,2.1306,-22.0756,loss_of_function,-3.67152203193321,0.5200558461416892,,,0.9937,pathogenic,-1.500995679,destabilizing,-1.084127798,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539L,NP_000240:p.Ala539Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.55344,2.71054,1.804028779257707,Uncertain,Uncertain,False,0.037,0.11026,,,0.43733,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1203,2.1306,-8.7878,loss_of_function,-3.04432517084614,0.5974839069718461,,,0.5874,pathogenic,-0.053376887,neutral,-0.993577493,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539M,NP_000240:p.Ala539Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39256,2.07177,2.293233252264502,Uncertain,Uncertain,False,0.037,0.02792,,,0.32413,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.0739,2.1306,-7.7878,loss_of_function,-2.53929811037687,0.6598299874211573,,,0.5884,pathogenic,0.19505834,stabilizing,-1.07274182,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539N,NP_000240:p.Ala539Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.92909,3.24354,1.936246410261576,Destabilizing,Uncertain,False,0.037,0.09726,,,0.14105,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1958,2.1306,-22.0756,loss_of_function,-4.56664144289161,0.4095524866672551,,,0.903,pathogenic,-0.393266989,destabilizing,-1.070672747,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539P,NP_000240:p.Ala539Pro,"hg19,3:g.37081733G>C",,,0.724,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.88633,7.81497,6.511195020745812,Destabilizing,Destabilizing,False,0.037,-0.02738,,,0.2642,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1776480,Likely pathogenic,1,93.13,E,-0.1923,2.1306,-7.7878,loss_of_function,-4.56664144289161,0.4095524866672551,,,0.9932,pathogenic,-1.701894838,destabilizing,-1.034892727,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539Q,NP_000240:p.Ala539Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.6222,5.01565,2.881323348584326,Destabilizing,Uncertain,False,0.037,0.15968,,,0.13359,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1933,2.1306,-22.0756,loss_of_function,-4.56664144289161,0.4095524866672551,,,0.9545,pathogenic,-0.548104485,destabilizing,-1.009062977,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539R,NP_000240:p.Ala539Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.36257,9.22381,3.803494675455811,Destabilizing,Destabilizing,False,0.037,0.0675,,,0.19933,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.1275,2.1306,-2.6794,loss_of_function,-2.53011389329537,0.6609637879277975,,,0.9833,pathogenic,-1.345595166,destabilizing,-1.061301933,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539S,NP_000240:p.Ala539Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01772,1.47551,1.6904738497886436,Neutral,Neutral,False,0.037,-0.0094,,,0.12295,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,-,-,uncertain,neutral,584642,Uncertain significance,1,93.13,E,-0.0079,2.1306,-2.3785,loss_of_function,-0.501806858894515,0.9113602586142515,,,0.1483,benign,0.018591265,neutral,-0.116096623,neutral,https://doi.org/10.1101/2022.10.22.513328 +A539T,NP_000240:p.Ala539Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2968,1.6432,0.8904772328406726,Uncertain,Uncertain,False,0.037,-0.01622,,,0.02588,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1049818,Uncertain significance,0,93.13,E,-0.0194,2.1306,-3.466,loss_of_function,-0.497827641385136,0.9118514968752954,,,0.1875,benign,0.068639561,neutral,-0.539822137,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539V,NP_000240:p.Ala539Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20049,0.97007,0.1846829865777333,Uncertain,Uncertain,False,0.037,0.07274,,,0.18165,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1776495,Uncertain significance,1,93.13,E,-0.0293,2.1306,-5.9805,loss_of_function,-1.77802684093269,0.75380966400406,,,0.2568,benign,0.032028142,neutral,0.058978723,neutral,https://doi.org/10.1101/2022.10.22.513328 +A539W,NP_000240:p.Ala539Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),27.18508,8.5881,3.872127660527352,Destabilizing,Destabilizing,False,0.037,0.25398,,,0.39817,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.2047,2.1306,-22.0756,loss_of_function,-2.71700894261219,0.6378914128169326,,,0.992,pathogenic,-0.516839273,destabilizing,-1.091453219,damaging,https://doi.org/10.1101/2022.10.22.513328 +A539Y,NP_000240:p.Ala539Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),16.7137,8.92619,3.923981876954156,Destabilizing,Destabilizing,False,0.037,0.1683,,,0.37684,,,,Neutral,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,E,-0.213,2.1306,-22.0756,loss_of_function,-3.63860186497542,0.524119872682461,,,0.9635,pathogenic,0.109523147,neutral,-0.181843078,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540A,NP_000240:p.Leu540Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60116,2.30204,1.826709915175249,Uncertain,Uncertain,False,0.052,2.28422,,,0.54533,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.2582,0.8227,-5.4627,loss_of_function,-3.38369597642969,0.5555882518610106,,,0.9175,pathogenic,0.031402728,neutral,-0.252537162,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540C,NP_000240:p.Leu540Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.52788,1.97177,2.3441801480099183,Uncertain,Uncertain,False,0.052,1.7599,,,0.46902,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.2525,0.8227,-6.4627,loss_of_function,-5.70640879963027,0.2688471009980229,,,0.9501,pathogenic,-0.045300536,neutral,0.196068609,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540D,NP_000240:p.Leu540Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93167,3.01156,2.5481515313104746,Destabilizing,Uncertain,False,0.052,2.73692,,,0.52937,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.4645,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9999,pathogenic,-1.64667059,destabilizing,-1.042788795,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540E,NP_000240:p.Leu540Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31701,1.66327,1.9261861536710028,Uncertain,Uncertain,False,0.052,3.46756,,,0.56687,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.4325,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9985,pathogenic,-0.11312383,destabilizing,-0.828068719,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540F,NP_000240:p.Leu540Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07346,0.36361,0.6281526925691713,Neutral,Neutral,False,0.052,1.82048,,,-0.17396,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.91,E,-0.2764,0.8227,-22.0724,loss_of_function,-5.07944589809801,0.3462462792942171,,,0.8848,pathogenic,-0.107605156,destabilizing,-0.46516822,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540G,NP_000240:p.Leu540Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76044,4.21327,3.0806669836531246,Destabilizing,Destabilizing,False,0.052,2.86142,,,0.56312,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.4178,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9937,pathogenic,0.026234408,neutral,-1.019537349,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540H,NP_000240:p.Leu540His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3345,1.62415,1.59184914679274,Uncertain,Uncertain,False,0.052,1.78742,,,0.06101,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.3853,0.8227,-22.0724,loss_of_function,-5.61500645157089,0.2801308095186533,,,0.9969,pathogenic,-0.116458845,destabilizing,-1.035897339,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540I,NP_000240:p.Leu540Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1943,0.45952,0.9640079711326456,Neutral,Neutral,False,0.052,0.25976,,,-0.80612,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.91,E,-0.1256,0.8227,-4.1408,loss_of_function,-2.00160467553813,0.7262087634700545,,,0.3877,ambiguous,-0.10252795,destabilizing,0.414442078,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540K,NP_000240:p.Leu540Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21791,1.35136,1.791918639392351,Neutral,Neutral,False,0.052,3.12748,,,1.51895,,,Uncertain,Destabilizing,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.91,E,-0.4316,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9977,pathogenic,-0.177949233,destabilizing,-1.072991597,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540M,NP_000240:p.Leu540Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0713,1.02993,1.191532169651055,Neutral,Neutral,False,0.052,0.28498,,,-0.23818,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.91,E,-0.1624,0.8227,-6.7846,loss_of_function,-2.80907524071024,0.6265257390200519,,,0.5253,ambiguous,0.005336474,neutral,0.03646446,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540N,NP_000240:p.Leu540Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88342,1.99694,1.9963412927095283,Neutral,Neutral,False,0.052,1.93104,,,0.42728,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.3379,0.8227,-7.7846,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9987,pathogenic,-0.39860991,destabilizing,-1.057788007,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540P,NP_000240:p.Leu540Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.58029,4.28844,5.091637160306666,Destabilizing,Destabilizing,False,0.052,2.31916,,,0.98741,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.4264,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9984,pathogenic,-1.532680427,destabilizing,-1.015505508,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540Q,NP_000240:p.Leu540Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.0636,1.29864,1.903968902916792,Uncertain,Uncertain,False,0.052,1.81598,,,0.68672,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.3637,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9945,pathogenic,0.145250572,stabilizing,-1.04941272,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540R,NP_000240:p.Leu540Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89136,1.24116,1.254437231887684,Neutral,Neutral,False,0.052,3.97064,,,2.47206,,,Uncertain,Destabilizing,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.91,E,-0.4232,0.8227,-22.0724,loss_of_function,-6.0554598959859,0.2257564046022947,,,0.9933,pathogenic,-1.78499322,destabilizing,-1.02811123,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540S,NP_000240:p.Leu540Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.36967,2.90782,2.550566553726808,Uncertain,Uncertain,False,0.052,2.48564,,,0.57395,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.3055,0.8227,-8.7845,loss_of_function,-5.70640879963027,0.2688471009980229,,,0.9918,pathogenic,0.0523694,neutral,-0.808941662,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540T,NP_000240:p.Leu540Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.03197,1.70442,2.109255157279253,Uncertain,Uncertain,False,0.052,1.45656,,,0.35598,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.91,E,-0.2732,0.8227,-7.7846,loss_of_function,-5.70640879963027,0.2688471009980229,,,0.9707,pathogenic,-0.015291408,neutral,-0.375449224,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540V,NP_000240:p.Leu540Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86433,0.60612,1.3435014439848283,Neutral,Neutral,False,0.052,1.40364,,,0.08629,,,Uncertain,Uncertain,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1465175,Uncertain significance,1,93.91,E,-0.1737,0.8227,-6.4627,loss_of_function,-2.3201900779519,0.6868790865406463,,,0.3465,ambiguous,-0.129019976,destabilizing,0.464004471,neutral,https://doi.org/10.1101/2022.10.22.513328 +L540W,NP_000240:p.Leu540Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18919,0.78844,0.6238918723332587,Neutral,Neutral,False,0.052,4.93498,,,1.55916,,,Uncertain,Destabilizing,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.91,E,-0.3756,0.8227,-22.0724,loss_of_function,-5.61500645157089,0.2801308095186533,,,0.991,pathogenic,-0.030270831,neutral,-0.703011892,damaging,https://doi.org/10.1101/2022.10.22.513328 +L540Y,NP_000240:p.Leu540Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31386,0.26905,0.8858757234616899,Neutral,Neutral,False,0.052,2.42466,,,1.16709,,,Uncertain,Destabilizing,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.91,E,-0.3685,0.8227,-22.0724,loss_of_function,-5.61500645157089,0.2801308095186533,,,0.9941,pathogenic,0.054957101,neutral,-0.60366945,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541C,NP_000240:p.Ala541Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.512,0.51293,1.0839086793230353,Neutral,Neutral,False,0.052,0.01324,,,0.09636,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.1404,2.1665,-22.0691,loss_of_function,-1.48185320042703,0.7903725871883611,,,0.4331,ambiguous,0.002589829,neutral,-0.133773303,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541D,NP_000240:p.Ala541Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45348,3.81497,1.977546232771504,Uncertain,Uncertain,False,0.052,0.01816,,,-0.13311,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2221,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9744,pathogenic,-0.863118237,destabilizing,-1.040032089,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541E,NP_000240:p.Ala541Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9344,4.22143,1.4617653977331335,Destabilizing,Uncertain,False,0.052,0.03774,,,-0.06676,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2077,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9525,pathogenic,-0.44701714,destabilizing,-1.003584258,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541F,NP_000240:p.Ala541Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.437,4.87279,-1.3513134102728612,Destabilizing,Uncertain,False,0.052,0.02246,,,-0.05903,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.1083,2.1665,-5.974,loss_of_function,-1.63988634403068,0.7708632423314428,,,0.56,ambiguous,0.002457918,neutral,-0.196530438,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541G,NP_000240:p.Ala541Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90824,2.3881,2.3153421182070586,Uncertain,Uncertain,False,0.052,-0.0245,,,-0.10791,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.21,E,-0.0661,2.1665,-8.7812,loss_of_function,-2.68121208261461,0.6423105699036203,,,0.2944,benign,0.002783604,neutral,-0.269773287,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541H,NP_000240:p.Ala541His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.50939,4.52177,-0.1548810495916713,Destabilizing,Uncertain,False,0.052,0.08432,,,0.1455,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.1946,2.1665,-22.0691,loss_of_function,-3.01953623700063,0.600544124898285,,,0.9667,pathogenic,0.090837004,neutral,-1.001684008,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541I,NP_000240:p.Ala541Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.13457,0.12721,-0.0889743668943515,Uncertain,Uncertain,False,0.052,0.08894,,,0.03701,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.077,2.1665,-1.8745,loss_of_function,-0.326032513730664,0.9330597720112713,,,0.1729,benign,-0.061926656,neutral,-0.11127008,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541K,NP_000240:p.Ala541Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.62245,8.37143,1.294602507380488,Destabilizing,Uncertain,False,0.052,0.05478,,,0.18161,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2124,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9884,pathogenic,-0.275483964,destabilizing,-1.051527168,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541L,NP_000240:p.Ala541Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63857,1.8102,-0.53541381546856,Neutral,Neutral,False,0.052,0.03664,,,-0.10696,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,856690,Uncertain significance,2,93.21,E,-0.0949,2.1665,-4.4594,loss_of_function,-0.596708061439186,0.8996446131138132,,,0.2088,benign,0.043487361,neutral,-0.112102315,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541M,NP_000240:p.Ala541Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04839,0.72789,-0.2223354729475818,Neutral,Neutral,False,0.052,0.04972,,,-0.22302,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.0595,2.1665,-5.6114,loss_of_function,-1.10381448622719,0.8370418331225432,,,0.3066,benign,0.096447591,neutral,-0.197315604,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541N,NP_000240:p.Ala541Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.39554,2.85544,1.0312524921356243,Uncertain,Uncertain,False,0.052,0.04156,,,-0.2057,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.1925,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9023,pathogenic,0.08572903,neutral,-1.021077424,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541P,NP_000240:p.Ala541Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.79895,6.22245,5.010096124695053,Uncertain,Uncertain,False,0.052,0.07894,,,-0.19059,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,419002,Conflicting classifications of pathogenicity,1,93.21,E,-0.2618,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9706,pathogenic,-1.601823092,destabilizing,-1.020615764,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541Q,NP_000240:p.Ala541Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.40275,3.5483,0.8226214862822112,Destabilizing,Uncertain,False,0.052,0.04954,,,0.08634,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.1221,2.1665,-8.7812,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9373,pathogenic,-0.141562867,destabilizing,-0.991432327,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541R,NP_000240:p.Ala541Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.67818,5.96054,0.2958555416802777,Destabilizing,Uncertain,False,0.052,0.03512,,,0.00552,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2231,2.1665,-22.0691,loss_of_function,-3.45408009575046,0.5468992640641009,,,0.9724,pathogenic,-1.252222986,destabilizing,-1.033428474,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541S,NP_000240:p.Ala541Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20099,1.51088,1.449762843628034,Neutral,Neutral,False,0.052,0.0063,,,-0.15791,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,3075505,Uncertain significance,1,93.21,E,-0.0152,2.1665,-4.4594,loss_of_function,-2.26292950256712,0.6939479601099083,,,0.2148,benign,0.061002324,neutral,-0.005307094,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541T,NP_000240:p.Ala541Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38685,0.56463,0.7399499674659221,Neutral,Neutral,False,0.052,0.03268,,,-0.12093,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.111,2.1665,-22.0691,loss_of_function,-2.26292950256712,0.6939479601099083,,,0.1599,benign,0.03367765,neutral,-0.059300466,neutral,https://doi.org/10.1101/2022.10.22.513328 +A541V,NP_000240:p.Ala541Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.50821,-0.81939,-0.1239093319472905,Uncertain,Uncertain,False,0.052,0.06994,,,-0.00888,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,964209,Uncertain significance,2,93.21,E,-0.007,2.1665,-2.2736,loss_of_function,-0.0434301849162712,0.9679473036042381,,,0.0828,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A541W,NP_000240:p.Ala541Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.48918,5.98673,-1.320918667848287,Destabilizing,Uncertain,False,0.052,0.06048,,,0.13255,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2014,2.1665,-22.0691,loss_of_function,-3.01953623700063,0.600544124898285,,,0.964,pathogenic,0.168795853,stabilizing,-0.961560717,damaging,https://doi.org/10.1101/2022.10.22.513328 +A541Y,NP_000240:p.Ala541Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.19881,6.11633,-1.0608687556146634,Destabilizing,Uncertain,False,0.052,0.01978,,,-0.07724,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.21,E,-0.2097,2.1665,-22.0691,loss_of_function,-3.01953623700063,0.600544124898285,,,0.8889,pathogenic,0.2549435,stabilizing,-1.009712758,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q542A,NP_000240:p.Gln542Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24366,0.85136,0.0697381371193273,Neutral,Neutral,False,0.06,1.42878,,,0.87742,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.2039,0.1858,-6.7846,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.8662,pathogenic,-0.035763913,neutral,0.163893352,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542C,NP_000240:p.Gln542Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91164,1.13265,0.5983893704373258,Neutral,Neutral,False,0.06,1.29548,,,1.33855,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.3281,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9969,pathogenic,0.121386344,stabilizing,0.275841888,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542D,NP_000240:p.Gln542Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24982,2.05544,0.7032021973868258,Uncertain,Uncertain,False,0.06,1.96354,,,1.0882,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.3685,0.1858,-22.0724,loss_of_function,-3.83134397340106,0.5003256724534497,,,0.9981,pathogenic,0.128943089,stabilizing,-0.113030279,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542E,NP_000240:p.Gln542Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37462,1.34864,0.0973917873697105,Neutral,Neutral,False,0.06,0.2106,,,0.43347,,,Uncertain,Neutral,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.2141,0.1858,-7.7846,loss_of_function,-3.59206223194739,0.5298652355193572,,,0.7602,pathogenic,-0.071142705,neutral,-0.01634719,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542F,NP_000240:p.Gln542Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01266,0.72041,-0.4079688748635535,Neutral,Neutral,False,0.06,2.36788,,,1.48978,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,E,-0.3362,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9971,pathogenic,-0.098076453,destabilizing,-0.300002582,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542G,NP_000240:p.Gln542Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88756,2.5881,1.1812657301320462,Uncertain,Neutral,False,0.06,1.8031,,,0.95288,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.3526,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9292,pathogenic,-0.083059076,destabilizing,-0.096325531,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542H,NP_000240:p.Gln542His,"hg19,3:g.37081744G>T, hg38,3:g.37040253G>T",,,0.785,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06693,1.62891,-0.1211239700416177,Uncertain,Uncertain,False,0.06,3.20026,,,1.46557,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,1776708,Uncertain significance,1,91.8,E,-0.283,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9943,pathogenic,0.0056598,neutral,0.250853901,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542I,NP_000240:p.Gln542Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.79149,-0.50102,-0.6606360647513565,Neutral,Neutral,False,0.06,1.65934,,,0.54891,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,E,-0.3175,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9709,pathogenic,-0.12110489,destabilizing,0.386733325,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542K,NP_000240:p.Gln542Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40727,0.82653,-0.2208437433956994,Neutral,Neutral,False,0.06,0.55342,,,0.87084,,,Uncertain,Neutral,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,2773574,Uncertain significance,1,91.8,E,-0.3151,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9364,pathogenic,-0.138715587,destabilizing,0.124706237,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542L,NP_000240:p.Gln542Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.88371,-0.0619,-0.6418709368977837,Neutral,Neutral,False,0.06,1.32984,,,0.72033,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,2734466,Uncertain significance,1,91.8,E,-0.3009,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9184,pathogenic,-0.140037568,destabilizing,-0.0025732,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542M,NP_000240:p.Gln542Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63989,-0.13503,-0.3742150330522653,Neutral,Neutral,False,0.06,0.5902,,,0.7041,,,Uncertain,Neutral,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,E,-0.2718,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9118,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q542N,NP_000240:p.Gln542Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40966,1.22687,0.2372870401862442,Neutral,Neutral,False,0.06,2.4257,,,1.16176,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.2976,0.1858,-22.0724,loss_of_function,-3.83134397340106,0.5003256724534497,,,0.979,pathogenic,-0.006480731,neutral,-0.017863912,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542P,NP_000240:p.Gln542Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.20931,6.15102,3.4244144052820737,Destabilizing,Destabilizing,False,0.06,2.18044,,,1.45599,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1776675,Likely pathogenic,1,91.8,E,-0.4556,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9911,pathogenic,-0.975230225,destabilizing,-1.001912076,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q542R,NP_000240:p.Gln542Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00614,0.22959,-0.6077463249915033,Neutral,Neutral,False,0.06,1.65088,,,0.96315,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,653041,Uncertain significance,2,91.8,E,-0.2458,0.1858,-8.7845,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9262,pathogenic,-0.067787883,neutral,0.149445359,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542S,NP_000240:p.Gln542Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54501,1.57415,0.6975885964117395,Neutral,Neutral,False,0.06,1.88382,,,1.01931,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.2325,0.1858,-8.7845,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.8746,pathogenic,-0.077347714,neutral,0.01736797,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542T,NP_000240:p.Gln542Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85462,0.62857,0.0689695140673823,Neutral,Neutral,False,0.06,2.49664,,,1.3169,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,E,-0.2425,0.1858,-8.7845,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9075,pathogenic,-0.059512989,neutral,0.339414114,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542V,NP_000240:p.Gln542Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04865,-0.18673,-0.521193149995251,Neutral,Neutral,False,0.06,1.104,,,0.8882,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.8,E,-0.3176,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9314,pathogenic,-0.118700714,destabilizing,0.52398996,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542W,NP_000240:p.Gln542Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98746,-0.7432,-0.7152123800010562,Neutral,Neutral,False,0.06,2.12434,,,4.22792,,,Uncertain,Destabilizing,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,E,-0.3356,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.9986,pathogenic,-0.088695701,destabilizing,-0.250819189,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q542Y,NP_000240:p.Gln542Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99919,-0.21054,-0.2809141596368142,Neutral,Neutral,False,0.06,2.04874,,,0.7055,,,Uncertain,Uncertain,Uncertain,56.8,,False,56.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,E,-0.3385,0.1858,-22.0724,loss_of_function,-6.09112421906076,0.2213536093272665,,,0.998,pathogenic,-0.092810441,destabilizing,-0.080387373,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543A,NP_000240:p.His543Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.72428,0.54388,1.5394958233947178,Neutral,Neutral,False,0.085,0.03532,,,-0.04829,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.0393,1.9264,-6.4627,loss_of_function,-2.45995699636581,0.6696247249001256,,,0.7644,pathogenic,0.048554526,neutral,0.111579298,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543C,NP_000240:p.His543Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9031,0.61599,1.8970949099287429,Neutral,Neutral,False,0.085,0.02038,,,-0.13487,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.0914,1.9264,-5.9773,loss_of_function,-1.93020385056316,0.7350232645660953,,,0.23,benign,0.052700729,neutral,-0.145329319,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543D,NP_000240:p.His543Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62295,1.36463,2.351366291202031,Neutral,Uncertain,False,0.085,0.03416,,,0.06278,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.1662,1.9264,-22.0724,loss_of_function,-3.14789325000349,0.5846983271474206,,,0.695,pathogenic,0.054140787,neutral,-0.127366824,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543E,NP_000240:p.His543Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40783,0.93435,1.9815642824274549,Neutral,Neutral,False,0.085,0.00752,,,0.01611,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.1777,1.9264,-22.0724,loss_of_function,-2.9115384693722,0.6138765540608958,,,0.7685,pathogenic,-0.000409316,neutral,-0.192797464,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543F,NP_000240:p.His543Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.30735,-0.78878,-0.4103661273860942,Neutral,Neutral,False,0.085,0.00304,,,0.00811,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.0545,1.9264,-5.1997,loss_of_function,-0.328023351127788,0.9328140012036491,,,0.2466,benign,0.029325651,neutral,-0.204549866,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543G,NP_000240:p.His543Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92242,3.14014,2.96388014905588,Uncertain,Uncertain,False,0.085,0.07686,,,-0.44159,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.1075,1.9264,-3.6554,loss_of_function,-3.6213176649211,0.526253623943408,,,0.7554,pathogenic,0.134695362,stabilizing,-0.439487068,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543I,NP_000240:p.His543Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.94155,-0.06122,0.5044066522840998,Neutral,Neutral,False,0.085,0.07492,,,-0.03524,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.1293,1.9264,-7.1996,loss_of_function,-3.35720086324054,0.5588590992822744,,,0.7098,pathogenic,-0.025961583,neutral,-0.105307897,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543K,NP_000240:p.His543Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63645,1.01667,2.2843506699616647,Neutral,Uncertain,False,0.085,0.0004,,,-0.04143,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.1619,1.9264,-22.0724,loss_of_function,-3.48925926408082,0.5425563616128412,,,0.721,pathogenic,0.109928861,neutral,-0.812692151,damaging,https://doi.org/10.1101/2022.10.22.513328 +H543L,NP_000240:p.His543Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09941,-0.4568,0.1764245106420936,Neutral,Neutral,False,0.085,0.00206,,,-0.0012,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.1009,1.9264,-8.7845,loss_of_function,-3.35720086324054,0.5588590992822744,,,0.3975,ambiguous,0.030175134,neutral,-0.34780283,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543M,NP_000240:p.His543Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19693,0.24252,0.6986270440973904,Neutral,Neutral,False,0.085,0.00172,,,-0.02182,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.0511,1.9264,-8.7845,loss_of_function,-3.35720086324054,0.5588590992822744,,,0.7876,pathogenic,-0.046706865,neutral,-0.253934899,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543N,NP_000240:p.His543Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56646,0.39388,1.5824636525336606,Neutral,Neutral,False,0.085,-0.0035,,,0.01844,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.0498,1.9264,-7.1996,loss_of_function,-1.96549830657047,0.7306661297392966,,,0.3033,benign,0.163982116,stabilizing,-0.122383861,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543P,NP_000240:p.His543Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.91976,1.8619,6.149277889101145,Uncertain,Destabilizing,False,0.085,0.2378,,,0.28235,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.2144,1.9264,-8.7845,loss_of_function,-3.6213176649211,0.526253623943408,,,0.9538,pathogenic,-1.168835547,destabilizing,-1.000856343,damaging,https://doi.org/10.1101/2022.10.22.513328 +H543Q,NP_000240:p.His543Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11612,3.17075,1.573704307779476,Uncertain,Neutral,False,0.085,0.0078,,,0.03434,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,2452048,Uncertain significance,1,90.82,E,-0.0872,1.9264,-22.0724,loss_of_function,-2.28988490368544,0.6906202896973473,,,0.477,ambiguous,0.133886778,stabilizing,-0.69375372,damaging,https://doi.org/10.1101/2022.10.22.513328 +H543R,NP_000240:p.His543Arg,"hg19,3:g.37081746A>G",,1.98952712919e-05,0.657,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.64991,1.30918,1.349666951342966,Neutral,Neutral,False,0.085,0.00654,,,-0.04066,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,182526,Conflicting classifications of pathogenicity,1,90.82,E,-0.1553,1.9264,-22.0724,loss_of_function,-3.28157603942799,0.5681950571317431,,,0.3864,ambiguous,0.248663239,stabilizing,-0.601410548,damaging,https://doi.org/10.1101/2022.10.22.513328 +H543S,NP_000240:p.His543Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37693,1.00714,2.214781364397054,Neutral,Uncertain,False,0.085,0.02946,,,-0.00644,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.0337,1.9264,-4.1997,loss_of_function,-1.66406889280046,0.767877883230746,,,0.5554,ambiguous,-0.027433633,neutral,0.041420374,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543T,NP_000240:p.His543Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2407,-0.15782,1.7847370129374107,Neutral,Neutral,False,0.085,0.01672,,,0.00653,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.1019,1.9264,-8.7845,loss_of_function,-2.8877875438433,0.6168086288538671,,,0.761,pathogenic,-0.05068683,neutral,-0.220715829,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543V,NP_000240:p.His543Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01213,-0.49354,0.6913378922428942,Neutral,Neutral,False,0.085,0.05148,,,-0.05923,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.82,E,-0.1616,1.9264,-22.0724,loss_of_function,-3.35720086324054,0.5588590992822744,,,0.6306,pathogenic,-0.020866948,neutral,-0.243251762,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543W,NP_000240:p.His543Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.8899,-1.24558,-0.5999328218630184,Neutral,Neutral,False,0.085,0.0109,,,-0.0078,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.82,E,-0.1568,1.9264,-22.0724,loss_of_function,-2.28451318794557,0.6912834332155533,,,0.4112,ambiguous,0.085560263,neutral,-0.234749626,neutral,https://doi.org/10.1101/2022.10.22.513328 +H543Y,NP_000240:p.His543Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52804,-0.89116,-0.0644551656730796,Neutral,Neutral,False,0.085,-0.00082,,,0.01658,,,,Neutral,,12.9,,False,12.9,,neutral,neutral,neutral,UP,-,neutral,neutral,819700,Uncertain significance,1,90.82,E,0.0102,1.9264,-2.2928,gain_of_function,-0.0652110066029549,0.9652584400414257,,,0.0686,benign,0.046502671,neutral,0.054649374,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544A,NP_000240:p.Gln544Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67177,0.34048,-0.0946708848813754,Neutral,Neutral,False,0.125,0.00324,,0.0,-0.11773,,-0.00107,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,0.0283,2.7099,-6.7846,gain_of_function,-2.30869801878728,0.6882977923908633,,,0.3836,ambiguous,-0.013144503,neutral,0.200766671,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544C,NP_000240:p.Gln544Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79791,3.23197,0.3802445970578605,Uncertain,Neutral,False,0.125,-0.00546,,0.0,0.09451,,4e-05,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,-0.0959,2.7099,-22.0724,loss_of_function,-3.34851162967235,0.5599317935941036,,,0.6607,pathogenic,0.089006636,neutral,0.167702181,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544D,NP_000240:p.Gln544Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4072,-0.2051,0.0035442112015598,Neutral,Neutral,False,0.125,0.0115,,-0.02063,-0.06946,,0.0,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,-0.0467,2.7099,-4.5367,loss_of_function,-1.74739906020874,0.7575906932408398,,,0.4388,ambiguous,-0.131941627,destabilizing,0.004948873,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544E,NP_000240:p.Gln544Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29578,0.42993,-0.0740498593347122,Neutral,Neutral,False,0.125,0.0024,,0.00947,-0.0081,,0.0,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,0.0364,2.7099,-4.1997,gain_of_function,-1.09127529553665,0.8385898083752658,,,0.1008,benign,-0.014432648,neutral,0.097361113,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544F,NP_000240:p.Gln544Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11602,2.66701,-0.4816599992821407,Uncertain,Neutral,False,0.125,0.0064,,-0.02395,0.03682,,-0.00078,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,-0.0361,2.7099,-8.7845,loss_of_function,-3.17313317482882,0.5815824339470991,,,0.8729,pathogenic,0.313697088,stabilizing,-0.337799903,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544G,NP_000240:p.Gln544Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17024,-0.59422,0.4446887124444071,Neutral,Neutral,False,0.125,-0.03414,,0.0,0.01885,,-0.08552,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,-0.0205,2.7099,-2.4992,loss_of_function,-1.89981275250381,0.7387750750983676,,,0.2194,benign,0.105125071,neutral,-0.087257669,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544H,NP_000240:p.Gln544His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44051,2.46939,-0.4758844964495329,Uncertain,Neutral,False,0.125,0.02074,,-0.00809,-0.02127,,0.0,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,0.0444,2.7099,-3.4271,gain_of_function,-0.508780682485028,0.910499333327972,,,0.2392,benign,0.12420292,stabilizing,-0.091332793,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544I,NP_000240:p.Gln544Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.75535,2.91463,-0.2927442599423152,Uncertain,Neutral,False,0.125,0.0318,,-0.0205,-0.04446,,-0.0,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,-0.0853,2.7099,-22.0724,loss_of_function,-3.86720485694576,0.49589861159777254,,,0.839,pathogenic,0.131230373,stabilizing,-0.156752197,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544K,NP_000240:p.Gln544Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64299,-0.14082,-0.4028554910287035,Neutral,Neutral,False,0.125,-0.00546,,-0.02333,0.04711,,-0.14065,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,0.0012,2.7099,-5.6147,gain_of_function,-1.42293820254996,0.797645700818949,,,0.0935,benign,0.162288581,stabilizing,-0.005507474,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544L,NP_000240:p.Gln544Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45681,2.63299,-0.7239825737930194,Uncertain,Neutral,False,0.125,-0.00124,,-0.013,-0.0122,,-0.0125,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,0.0145,2.7099,-5.7846,gain_of_function,-1.80504395820611,0.7504743746722925,,,0.306,benign,0.113286262,stabilizing,-0.047427427,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544M,NP_000240:p.Gln544Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05072,2.73503,-0.45978406668434,Uncertain,Neutral,False,0.125,-0.0009,,-0.01055,-0.03988,,0.35555,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,0.0282,2.7099,-8.7845,gain_of_function,-3.86720485694576,0.49589861159777254,,,0.6065,pathogenic,0.069747722,neutral,0.069638259,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544N,NP_000240:p.Gln544Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33609,-0.50646,-0.3713197247058769,Neutral,Neutral,False,0.125,-0.0008,,0.0,0.01169,,-0.00321,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,0.0224,2.7099,-4.8777,gain_of_function,-0.944851663754695,0.8566659477375318,,,0.3372,benign,0.01808387,neutral,-0.187438505,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544P,NP_000240:p.Gln544Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.40618,3.05952,4.857137093540612,Destabilizing,Destabilizing,False,0.125,0.00412,,0.0,0.92671,,0.17265,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,-0.2233,2.7099,-22.0724,loss_of_function,-4.35204744680383,0.43604432362267703,,,0.7531,pathogenic,0.009526785,neutral,-1.003547591,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q544R,NP_000240:p.Gln544Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09837,2.79898,-0.6621981176388275,Uncertain,Neutral,False,0.125,0.01966,,-0.02941,-0.01211,,0.05271,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,0.0053,2.7099,-5.0842,gain_of_function,-0.794114668026326,0.8752745760625881,,,0.0959,benign,0.077932203,neutral,-0.238237327,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544S,NP_000240:p.Gln544Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23053,0.16633,0.1489800808457869,Neutral,Neutral,False,0.125,0.02082,,0.0,0.01255,,0.09696,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,0.0287,2.7099,-3.1122,gain_of_function,-1.45486814410563,0.7937039185645054,,,0.3413,ambiguous,-0.014179023,neutral,0.053865472,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544T,NP_000240:p.Gln544Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.73641,1.75816,0.0396504200448283,Neutral,Neutral,False,0.125,0.02658,,0.0,-0.0355,,0.00498,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.71,T,-0.078,2.7099,-22.0724,loss_of_function,-3.34851162967235,0.5599317935941036,,,0.4458,ambiguous,0.035301783,neutral,0.014568575,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544V,NP_000240:p.Gln544Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14703,3.14558,-0.2089243213497588,Uncertain,Uncertain,False,0.125,0.0261,,0.0,-0.12663,,-0.00064,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.71,T,-0.0854,2.7099,-22.0724,loss_of_function,-3.86720485694576,0.49589861159777254,,,0.6768,pathogenic,0.090138378,neutral,-0.091620133,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q544W,NP_000240:p.Gln544Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54078,2.50612,-0.8211854951507097,Uncertain,Neutral,False,0.125,0.01772,,0.00863,-0.00695,,0.0,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,-0.1033,2.7099,-22.0724,loss_of_function,-3.17313317482882,0.5815824339470991,,,0.75,pathogenic,1.940875725,stabilizing,-0.542391121,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q544Y,NP_000240:p.Gln544Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25699,2.72789,-0.3679732068732871,Uncertain,Neutral,False,0.125,0.01876,,-0.00504,-0.0015,,-0.04889,Neutral,Neutral,Uncertain,79.7,,False,79.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.71,T,-0.1062,2.7099,-22.0724,loss_of_function,-3.17313317482882,0.5815824339470991,,,0.6369,pathogenic,0.214839997,stabilizing,-0.161817781,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545A,NP_000240:p.Thr545Ala,"hg19,3:g.37081751A>G",3.18796225453e-05,3.9789909279e-05,0.774,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18952,0.31088,0.4114466639338554,Neutral,Neutral,True,0.206,-0.02188,,0.0,-0.07066,,0.00035,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,DOWN,-,mixed_effects,neutral,89812,Uncertain significance,2,87.39,T,-0.1301,1.3485,-8.7845,loss_of_function,-2.6195394951271,0.6499241106462504,,,0.5692,pathogenic,0.006952033,neutral,0.039530343,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545C,NP_000240:p.Thr545Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.6937,0.7915,0.9585339985329676,Neutral,Neutral,True,0.206,0.01866,,0.0,-0.05014,,0.04387,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,87.39,T,-0.1608,1.3485,-7.7846,loss_of_function,-2.2893612543018,0.6906849347216542,,,0.8398,pathogenic,0.061210071,neutral,-0.146355636,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545D,NP_000240:p.Thr545Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.87931,0.02823,0.3652463172113873,Neutral,Neutral,True,0.206,0.00238,,-0.03144,0.06239,,-0.00184,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,-,-,uncertain,neutral,,,,87.39,T,-0.3134,1.3485,-22.0724,loss_of_function,-3.95888231252635,0.4845809407868172,,,0.9631,pathogenic,0.028522562,neutral,0.082648888,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545E,NP_000240:p.Thr545Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.08653,0.14898,0.2511059916536612,Neutral,Neutral,True,0.206,-0.00722,,0.03374,-0.17432,,0.0,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.2158,1.3485,-7.7846,loss_of_function,-3.13321308306174,0.5865106079949245,,,0.8824,pathogenic,-0.032625093,neutral,0.090993451,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545F,NP_000240:p.Thr545Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.43285,-0.18639,-0.5617469236196432,Neutral,Neutral,True,0.206,0.0537,,-0.26074,0.19036,,-0.01343,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.3051,1.3485,-22.0724,loss_of_function,-5.74220372448944,0.2644281828060488,,,0.9376,pathogenic,0.129560968,stabilizing,-0.067580885,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545G,NP_000240:p.Thr545Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2259,1.27381,1.094588332067923,Neutral,Neutral,True,0.206,-0.00454,,0.0,-0.00183,,0.0,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,87.39,T,-0.2713,1.3485,-22.0724,loss_of_function,-5.74220372448944,0.2644281828060488,,,0.7715,pathogenic,-0.091835058,destabilizing,-0.042793493,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545H,NP_000240:p.Thr545His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5069,-0.02721,-0.2885355679564189,Neutral,Neutral,True,0.206,-0.01072,,0.04002,0.01478,,-0.01974,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.2854,1.3485,-22.0724,loss_of_function,-5.74220372448944,0.2644281828060488,,,0.8797,pathogenic,0.054309464,neutral,-0.074562725,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545I,NP_000240:p.Thr545Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14359,0.26701,0.0745092739743585,Neutral,Neutral,True,0.206,0.10858,,0.0,-0.01304,,0.05035,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.1428,1.3485,-6.1997,loss_of_function,-3.04148494966325,0.5978345350316528,,,0.7446,pathogenic,0.219748039,stabilizing,-0.457018675,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545K,NP_000240:p.Thr545Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.27983,0.25578,0.3430857415463578,Neutral,Neutral,True,0.206,0.06582,,0.01267,-0.02469,,0.01122,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.2013,1.3485,-6.4627,loss_of_function,-3.54214529893104,0.5360275293155122,,,0.6586,pathogenic,-0.010230626,neutral,-0.018657582,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545L,NP_000240:p.Thr545Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.57273,-0.47211,-0.4145379214544981,Neutral,Neutral,True,0.206,0.03068,,-0.03705,0.01752,,0.01385,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.187,1.3485,-4.6972,loss_of_function,-2.59565646776535,0.6528724935386151,,,0.3567,ambiguous,0.072455544,neutral,0.048506868,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545M,NP_000240:p.Thr545Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.50903,-0.02959,-0.0971621642364917,Neutral,Neutral,True,0.206,0.09722,,-0.3881,0.05854,,0.00028,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.2426,1.3485,-22.0724,loss_of_function,-4.47686345523867,0.42063566632021565,,,0.2744,benign,0.003446756,neutral,0.081943309,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545N,NP_000240:p.Thr545Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.66032,-0.28571,0.1769620845139669,Neutral,Neutral,True,0.206,0.01414,,0.0,0.05375,,0.14737,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,-,-,uncertain,neutral,,,,87.39,T,-0.1857,1.3485,-8.7845,loss_of_function,-3.70872923382348,0.5154625809804342,,,0.6919,pathogenic,0.063724958,neutral,0.098492712,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545P,NP_000240:p.Thr545Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.01381,4.22959,2.111546458876264,Uncertain,Uncertain,True,0.206,0.02788,,0.0,0.18144,,-0.31252,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,-,-,uncertain,neutral,,,,87.39,T,-0.2944,1.3485,-8.7845,loss_of_function,-3.93717830165861,0.4872603219795309,,,0.7979,pathogenic,0.1628036,stabilizing,-0.821583957,damaging,https://doi.org/10.1101/2022.10.22.513328 +T545Q,NP_000240:p.Thr545Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.126,-0.16054,0.3504083396791652,Neutral,Neutral,True,0.206,0.04344,,0.00249,-0.00041,,0.11554,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.19,1.3485,-7.7846,loss_of_function,-4.51667402418343,0.41572101297103364,,,0.7263,pathogenic,-0.074784953,neutral,0.168418301,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545R,NP_000240:p.Thr545Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.8819,0.86837,0.1006132975053392,Neutral,Neutral,True,0.206,0.09238,,0.22946,0.04227,,0.04378,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.216,1.3485,-8.7845,loss_of_function,-5.11188340437545,0.3422418376825752,,,0.6651,pathogenic,-0.08143011,destabilizing,0.283078598,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545S,NP_000240:p.Thr545Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35962,0.41735,0.4719480173420509,Neutral,Neutral,True,0.206,-0.0232,,0.0,0.01339,,0.10481,Neutral,Neutral,Uncertain,60.9,,False,60.9,,neutral,,,DOWN,-,mixed_effects,neutral,"2856501, 1776873","Uncertain significance, Uncertain significance","1, 2",87.39,T,-0.0794,1.3485,-5.9773,loss_of_function,-2.1306185193334,0.7102818793207958,,,0.6609,pathogenic,0.642339335,stabilizing,0.87920923,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545V,NP_000240:p.Thr545Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54026,-0.12143,0.2179403247016642,Neutral,Neutral,True,0.206,0.05298,,0.0,-0.07369,,0.03487,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.113,1.3485,-2.8074,loss_of_function,-2.52990986766726,0.6609889750894757,,,0.4859,ambiguous,0.099679129,neutral,-0.185997644,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545W,NP_000240:p.Thr545Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.40205,0.37993,-0.917440625143543,Neutral,Neutral,True,0.206,0.0355,,-0.48863,0.10558,,0.33686,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.298,1.3485,-22.0724,loss_of_function,-5.74220372448944,0.2644281828060488,,,0.9729,pathogenic,0.438042486,stabilizing,-0.026600985,neutral,https://doi.org/10.1101/2022.10.22.513328 +T545Y,NP_000240:p.Thr545Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.26458,-0.37109,-0.5007450833239152,Neutral,Neutral,True,0.206,0.0865,,-0.19446,0.03471,,0.36593,Neutral,Neutral,Uncertain,60.9,,False,60.9,,uncertain,,,UP,-,mixed_effects,neutral,,,,87.39,T,-0.2387,1.3485,-8.7845,loss_of_function,-5.74220372448944,0.2644281828060488,,,0.9156,pathogenic,0.22223206,stabilizing,-0.174849089,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546A,NP_000240:p.Lys546Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57053,0.52143,1.0223729671057793,Neutral,Neutral,True,0.235,-0.01702,,,-0.03855,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1322,1.211,-6.7846,loss_of_function,-2.49628069859863,0.665140528628504,,,0.6801,pathogenic,0.084129283,neutral,-0.037736363,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546C,NP_000240:p.Lys546Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4453,0.27007,1.2569250998604222,Neutral,Neutral,True,0.235,-0.0532,,,0.07865,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.2126,1.211,-8.7845,loss_of_function,-3.52959513843813,0.5375768588009772,,,0.6992,pathogenic,0.103266659,neutral,0.034966235,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546D,NP_000240:p.Lys546Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50678,1.09456,1.5032346968929389,Neutral,Neutral,True,0.235,-0.0625,,,-0.07891,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.2412,1.211,-6.7846,loss_of_function,-3.02292920278887,0.6001252599808312,,,0.8791,pathogenic,0.198386086,stabilizing,-0.102329868,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546E,NP_000240:p.Lys546Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.57415,0.19728,1.3745093005857492,Neutral,Neutral,True,0.235,-0.00818,,,-0.06451,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,405418,Uncertain significance,2,90.85,E,-0.1622,1.211,-7.7846,loss_of_function,-3.09171267846342,0.591633873194539,,,0.482,ambiguous,0.347029925,stabilizing,-0.106561258,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546F,NP_000240:p.Lys546Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00314,-0.63844,-0.0846865522401402,Neutral,Neutral,True,0.235,0.03264,,,-0.00926,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.85,E,-0.2135,1.211,-8.7845,loss_of_function,-5.34239817875298,0.3137845652054487,,,0.9594,pathogenic,0.125847837,stabilizing,0.138921839,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546G,NP_000240:p.Lys546Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.19677,2.02653,1.905756378636971,Uncertain,Uncertain,True,0.235,0.045,,,-0.15865,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1884,1.211,-6.1997,loss_of_function,-2.87951823175681,0.6178294834514915,,,0.7436,pathogenic,0.132406201,stabilizing,-0.144229996,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546H,NP_000240:p.Lys546His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.04178,0.08571,0.4693239234316126,Uncertain,Uncertain,True,0.235,0.0259,,,0.02237,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1444,1.211,-7.1996,loss_of_function,-5.34239817875298,0.3137845652054487,,,0.43,ambiguous,0.069749852,neutral,-0.151930547,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546I,NP_000240:p.Lys546Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49843,-1.23401,0.5011031449326544,Neutral,Neutral,True,0.235,0.00214,,,0.05408,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.85,E,-0.2486,1.211,-22.0724,loss_of_function,-5.13938923251058,0.33884621652092045,,,0.8499,pathogenic,0.05130925,neutral,-0.0019129,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546L,NP_000240:p.Lys546Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27667,-0.51463,-0.0660876162506957,Neutral,Neutral,True,0.235,0.00094,,,0.00332,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.85,E,-0.1794,1.211,-8.7845,loss_of_function,-5.13938923251058,0.33884621652092045,,,0.7845,pathogenic,0.098237051,neutral,-0.045752892,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546M,NP_000240:p.Lys546Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.62322,0.07347,0.4722298966716826,Neutral,Neutral,True,0.235,0.03976,,,-0.01632,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.2203,1.211,-22.0724,loss_of_function,-5.13938923251058,0.33884621652092045,,,0.564,pathogenic,0.111397746,stabilizing,0.123984961,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546N,NP_000240:p.Lys546Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05554,0.61054,0.8414772705420515,Neutral,Neutral,True,0.235,-0.0735,,,-0.06386,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.143,1.211,-5.3252,loss_of_function,-2.44163098093995,0.6718870892791636,,,0.6966,pathogenic,0.080840275,neutral,-0.057937696,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546P,NP_000240:p.Lys546Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.65549,6.44966,4.069443479192908,Destabilizing,Destabilizing,True,0.235,-0.04086,,,0.34979,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.3845,1.211,-22.0724,loss_of_function,-5.54540712499537,0.28872291388997806,,,0.9942,pathogenic,0.09595932,neutral,-1.017022402,damaging,https://doi.org/10.1101/2022.10.22.513328 +K546Q,NP_000240:p.Lys546Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02743,0.12687,1.0207728587814535,Neutral,Neutral,True,0.235,0.01164,,,0.06306,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1255,1.211,-5.6147,loss_of_function,-2.47352729274214,0.667949458650405,,,0.2116,benign,0.10215963,neutral,-0.05744063,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546R,NP_000240:p.Lys546Arg,"hg19,3:g.37081755A>G",,7.9580451858e-06,0.469,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18575,0.33844,0.1698675655333215,Neutral,Neutral,True,0.235,-0.02598,,,-0.04179,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,-,-,uncertain,neutral,127617,Uncertain significance,2,90.85,E,-0.0503,1.211,-3.7402,loss_of_function,-0.95870809559901,0.8549553577867609,,,0.0828,benign,0.055678428,neutral,-0.01459777,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546S,NP_000240:p.Lys546Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49825,0.77483,1.6122619791957344,Neutral,Neutral,True,0.235,-0.00602,,,-0.08539,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1407,1.211,-6.4627,loss_of_function,-3.22278320060107,0.575453090109106,,,0.6567,pathogenic,0.091594509,neutral,0.03428582,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546T,NP_000240:p.Lys546Thr,"hg19,3:g.37081755A>C",,,0.726,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52369,0.00204,1.1355234749168612,Neutral,Neutral,True,0.235,-0.0241,,,0.03167,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.1644,1.211,-8.7845,loss_of_function,-3.8659313837508,0.49605582309885377,,,0.5078,ambiguous,0.018398151,neutral,-0.040284809,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546V,NP_000240:p.Lys546Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29472,-1.01224,0.5341773632968285,Neutral,Neutral,True,0.235,-0.07996,,,0.09321,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.85,E,-0.2324,1.211,-22.0724,loss_of_function,-4.02929486266994,0.4758884431772548,,,0.7339,pathogenic,0.085689996,neutral,0.155164928,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546W,NP_000240:p.Lys546Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93163,-1.06497,-0.2952832495378216,Neutral,Neutral,True,0.235,0.04978,,,-0.08136,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.85,E,-0.2903,1.211,-22.0724,loss_of_function,-5.34239817875298,0.3137845652054487,,,0.9207,pathogenic,0.121507201,stabilizing,0.264177274,neutral,https://doi.org/10.1101/2022.10.22.513328 +K546Y,NP_000240:p.Lys546Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25968,-0.68197,0.1763990833865675,Neutral,Neutral,True,0.235,0.01308,,,-0.00512,,,Uncertain,Neutral,Uncertain,41.1,,False,41.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.85,E,-0.2662,1.211,-22.0724,loss_of_function,-5.34239817875298,0.3137845652054487,,,0.8406,pathogenic,0.109766856,neutral,0.220642641,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547A,NP_000240:p.Leu547Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.63359,2.63061,2.0755093905173725,Uncertain,Uncertain,True,0.322,1.99194,,,1.06423,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4046,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9877,pathogenic,0.120397005,stabilizing,-0.399937764,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547C,NP_000240:p.Leu547Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20113,2.40578,2.251570261245753,Uncertain,Uncertain,True,0.322,1.45146,,,1.14074,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.3938,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9821,pathogenic,0.055006761,neutral,-0.389999498,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547D,NP_000240:p.Leu547Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.23257,3.66327,2.3192951678440767,Destabilizing,Uncertain,True,0.322,2.15856,,,1.28365,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4583,0.1532,-8.7845,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9997,pathogenic,-1.362983052,destabilizing,-0.898500298,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547E,NP_000240:p.Leu547Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.81082,2.15,1.901347669087502,Uncertain,Neutral,True,0.322,3.12038,,,1.17194,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4942,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.998,pathogenic,-0.702317109,destabilizing,-0.929651558,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547F,NP_000240:p.Leu547Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65257,0.18129,0.7858098981482986,Neutral,Neutral,True,0.322,2.60208,,,-0.01587,,,Uncertain,Uncertain,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.44,E,-0.2702,0.1532,-8.7845,loss_of_function,-5.74916780009074,0.2635684609184923,,,0.9344,pathogenic,-0.208673332,destabilizing,-0.272140775,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547G,NP_000240:p.Leu547Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.85385,4.28469,3.3411846077251184,Destabilizing,Destabilizing,True,0.322,2.56352,,,1.09104,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4794,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9954,pathogenic,0.168472373,stabilizing,-0.555372893,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547H,NP_000240:p.Leu547His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09852,1.85986,1.4165757526355762,Uncertain,Uncertain,True,0.322,1.79788,,,0.65926,,,Uncertain,Uncertain,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4469,0.1532,-22.0724,loss_of_function,-5.88527164467864,0.24676630929467042,,,0.9959,pathogenic,-0.962543096,destabilizing,-0.494446187,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547I,NP_000240:p.Leu547Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41608,0.29286,0.4141099325925751,Neutral,Neutral,True,0.322,1.20974,,,1.16698,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.44,E,-0.2058,0.1532,-7.7846,loss_of_function,-3.28328039489796,0.5679846527958918,,,0.6109,pathogenic,-0.022413352,neutral,-0.132091614,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547K,NP_000240:p.Leu547Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07885,1.93299,1.8722441188090977,Neutral,Neutral,True,0.322,2.88872,,,0.96958,,,Uncertain,Uncertain,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.44,E,-0.4932,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9961,pathogenic,-0.709760913,destabilizing,-0.623395302,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547M,NP_000240:p.Leu547Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36736,1.19082,0.8954534687292803,Neutral,Neutral,True,0.322,-0.08776,,,0.38336,,,Uncertain,Neutral,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.44,E,-0.2291,0.1532,-7.7846,loss_of_function,-2.83277007152071,0.623600589174478,,,0.6168,pathogenic,0.104033584,neutral,-0.291448397,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547N,NP_000240:p.Leu547Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.74763,2.57619,1.8972369023427664,Uncertain,Uncertain,True,0.322,1.80884,,,1.2649,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4724,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9968,pathogenic,-0.723895798,destabilizing,-0.366828131,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547P,NP_000240:p.Leu547Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13456,3.37619,2.795329176330922,Destabilizing,Uncertain,True,0.322,6.55532,,,2.42186,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.488,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.999,pathogenic,-0.147786543,destabilizing,-0.582446164,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547Q,NP_000240:p.Leu547Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71264,1.88333,1.6885609932457837,Neutral,Neutral,True,0.322,1.58482,,,1.03006,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4253,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9946,pathogenic,-0.145125591,destabilizing,-0.625718347,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547R,NP_000240:p.Leu547Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12874,1.23265,1.4424829623632192,Neutral,Neutral,True,0.322,4.63856,,,1.71021,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.44,E,-0.4848,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9921,pathogenic,-1.49779884,destabilizing,-0.809850744,damaging,https://doi.org/10.1101/2022.10.22.513328 +L547S,NP_000240:p.Leu547Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.1277,3.05714,2.429366297793288,Destabilizing,Uncertain,True,0.322,2.46892,,,1.21348,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,647421,Uncertain significance,2,92.44,E,-0.3671,0.1532,-8.7845,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9975,pathogenic,-0.222912783,destabilizing,-0.468377786,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547T,NP_000240:p.Leu547Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.753,1.75646,1.6650048552277574,Neutral,Neutral,True,0.322,2.41086,,,2.21704,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.4077,0.1532,-22.0724,loss_of_function,-6.10735600133005,0.21934978006263955,,,0.9891,pathogenic,-0.515191164,destabilizing,-0.129353786,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547V,NP_000240:p.Leu547Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22571,0.41122,0.8033726911921202,Neutral,Neutral,True,0.322,1.35566,,,1.76916,,,Uncertain,Destabilizing,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.44,E,-0.315,0.1532,-22.0724,loss_of_function,-2.96938805079528,0.6067349671249186,,,0.7551,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L547W,NP_000240:p.Leu547Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.91006,0.39864,0.6713094512849401,Neutral,Neutral,True,0.322,2.81658,,,0.71416,,,Uncertain,Uncertain,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.44,E,-0.4372,0.1532,-22.0724,loss_of_function,-5.88527164467864,0.24676630929467042,,,0.9896,pathogenic,-0.193702267,destabilizing,-0.395454732,neutral,https://doi.org/10.1101/2022.10.22.513328 +L547Y,NP_000240:p.Leu547Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00416,0.1585,1.118391198770612,Neutral,Neutral,True,0.322,4.69066,,,0.32788,,,Uncertain,Uncertain,Uncertain,36.2,,False,36.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.44,E,-0.4301,0.1532,-22.0724,loss_of_function,-5.88527164467864,0.24676630929467042,,,0.9887,pathogenic,-1.215022062,destabilizing,-0.248537504,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548A,NP_000240:p.Tyr548Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.47056,3.58844,3.386537212095623,Destabilizing,Destabilizing,True,0.388,0.10782,,,-0.05801,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3694,0.8892,-22.0756,loss_of_function,-4.9902584270536,0.35725655909910237,,,0.9476,pathogenic,0.185834891,stabilizing,-1.006553131,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548C,NP_000240:p.Tyr548Cys,"hg19,3:g.37081761A>G, hg38,3:g.37040270A>G",,,0.811,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30342,3.45272,3.5270140559712635,Destabilizing,Destabilizing,True,0.388,-0.0716,,,-0.05788,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,2013125,Uncertain significance,2,93.11,E,-0.3401,0.8892,-22.0756,loss_of_function,-3.78392117451059,0.5061800629726616,,,0.3465,ambiguous,0.401083889,stabilizing,-0.661959502,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548D,NP_000240:p.Tyr548Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.62853,4.61531,3.991619297499821,Destabilizing,Destabilizing,True,0.388,-0.0551,,,-0.02702,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3836,0.8892,-22.0756,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.9649,pathogenic,-0.802447108,destabilizing,-1.091351995,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548E,NP_000240:p.Tyr548Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.22339,4.13333,3.604648142885381,Destabilizing,Destabilizing,True,0.388,-0.04426,,,-0.03462,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.4123,0.8892,-22.0756,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.9876,pathogenic,-0.206862425,destabilizing,-1.04501371,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548F,NP_000240:p.Tyr548Phe,"hg19,3:g.37081761A>T, hg38,3:g.37040270A>T",,,0.729,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.70802,-0.08333,0.2596107462169622,Neutral,Neutral,True,0.388,0.07536,,,0.0546,,,,Neutral,,14.7,,True,14.7,,uncertain,,,-,-,uncertain,neutral,,,,93.11,E,-0.1099,0.8892,-3.06,loss_of_function,-1.1680190475607,0.8291157177528198,,,0.112,benign,-0.055181092,neutral,-0.012403667,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548G,NP_000240:p.Tyr548Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.06105,5.81224,4.7002193288367975,Destabilizing,Destabilizing,True,0.388,0.21432,,,-0.00687,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3722,0.8892,-8.7878,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.9395,pathogenic,-1.368728111,destabilizing,-0.998363536,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548H,NP_000240:p.Tyr548His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.0817,2.33027,2.0475654426908774,Uncertain,Uncertain,True,0.388,0.02142,,,-0.05817,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,187383,Uncertain significance,2,93.11,E,-0.1991,0.8892,-6.7879,loss_of_function,-1.53686903317574,0.7835808292747362,,,0.563,ambiguous,0.002358129,neutral,-0.724333078,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548I,NP_000240:p.Tyr548Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73135,1.57109,2.046919682816932,Neutral,Uncertain,True,0.388,-0.04106,,,-0.13907,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3136,0.8892,-8.7878,loss_of_function,-4.41707521416407,0.4280165826705121,,,0.8036,pathogenic,0.340259755,stabilizing,-0.153977374,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548K,NP_000240:p.Tyr548Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39948,4.69286,3.2960094120277725,Uncertain,Uncertain,True,0.388,-0.07202,,,-0.06612,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.4376,0.8892,-22.0756,loss_of_function,-5.43696941389616,0.30210965450076527,,,0.9842,pathogenic,-0.195947613,destabilizing,-1.050650854,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548L,NP_000240:p.Tyr548Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22109,1.3432,1.632612155291668,Neutral,Neutral,True,0.388,-0.04518,,,-0.00128,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.2724,0.8892,-5.2029,loss_of_function,-2.54177566920395,0.6595241303809275,,,0.6264,pathogenic,0.282399522,stabilizing,0.042905394,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548M,NP_000240:p.Tyr548Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73009,1.63844,2.067916847070891,Neutral,Uncertain,True,0.388,0.01274,,,-0.02273,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.2428,0.8892,-8.7878,loss_of_function,-4.41707521416407,0.4280165826705121,,,0.8609,pathogenic,0.057390437,neutral,-0.154008996,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548N,NP_000240:p.Tyr548Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43648,3.48367,3.0479236018732907,Destabilizing,Destabilizing,True,0.388,-0.07842,,,0.01602,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3626,0.8892,-22.0756,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.7827,pathogenic,-0.017421543,neutral,-0.937649273,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548P,NP_000240:p.Tyr548Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.27865,5.92109,6.054520517476091,Destabilizing,Destabilizing,True,0.388,0.13856,,,-0.48356,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.4936,0.8892,-22.0756,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.9983,pathogenic,-1.711532193,destabilizing,-1.006840782,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548Q,NP_000240:p.Tyr548Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.19843,3.26837,3.0287023359141334,Destabilizing,Destabilizing,True,0.388,-0.00446,,,-0.02978,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3193,0.8892,-8.7878,loss_of_function,-5.64283412652246,0.2766954560553444,,,0.9446,pathogenic,-0.011764768,neutral,-1.031895704,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548R,NP_000240:p.Tyr548Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70299,3.6449,2.5468066230767965,Uncertain,Uncertain,True,0.388,-0.04344,,,0.04275,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.4329,0.8892,-22.0756,loss_of_function,-4.31125913035795,0.44107968084920635,,,0.9458,pathogenic,-0.164535795,destabilizing,-1.05481235,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548S,NP_000240:p.Tyr548Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73437,4.5,3.719127558666078,Destabilizing,Destabilizing,True,0.388,0.15118,,,-0.01392,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3063,0.8892,-8.7878,loss_of_function,-4.9902584270536,0.35725655909910237,,,0.7924,pathogenic,-0.046607512,neutral,-1.045431969,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548T,NP_000240:p.Tyr548Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33675,3.41599,3.1945606766177312,Uncertain,Uncertain,True,0.388,-0.01782,,,0.03581,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.3928,0.8892,-22.0756,loss_of_function,-4.9902584270536,0.35725655909910237,,,0.9446,pathogenic,0.17938333,stabilizing,-1.055728843,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y548V,NP_000240:p.Tyr548Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14251,2.14762,2.3327968926482447,Uncertain,Uncertain,True,0.388,-0.05898,,,-0.12968,,,,Neutral,,14.7,,True,14.7,,uncertain,,,DOWN,-,neutral,neutral,,,,93.11,E,-0.371,0.8892,-22.0756,loss_of_function,-3.50032161085155,0.5411907041744353,,,0.7492,pathogenic,0.350896454,stabilizing,-0.118466005,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y548W,NP_000240:p.Tyr548Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2476,-0.1034,0.6959685544937374,Neutral,Neutral,True,0.388,0.00722,,,0.02071,,,,Neutral,,14.7,,True,14.7,,uncertain,,,UP,-,neutral,neutral,,,,93.11,E,-0.287,0.8892,-22.0756,loss_of_function,-3.56130808744402,0.5336618644872686,,,0.5838,pathogenic,-0.040371479,neutral,0.172790788,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549A,NP_000240:p.Leu549Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31578,2.22143,2.1438481330710024,Uncertain,Uncertain,True,0.352,1.5584,,,0.71873,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.2772,0.7455,-7.7878,loss_of_function,-4.60786273735321,0.4044636778847323,,,0.908,pathogenic,0.059904315,neutral,-0.341926531,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549C,NP_000240:p.Leu549Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71088,2.37755,2.488148831924432,Uncertain,Uncertain,True,0.352,1.44504,,,0.53919,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.3393,0.7455,-22.0756,loss_of_function,-5.06844601805986,0.3476042251538984,,,0.872,pathogenic,0.105525291,neutral,-0.332353949,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549D,NP_000240:p.Leu549Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.53078,2.86599,2.5876286106739124,Uncertain,Uncertain,True,0.352,2.12726,,,0.49394,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.4716,0.7455,-22.0756,loss_of_function,-5.52087249901016,0.29175173726440534,,,0.9991,pathogenic,-0.739832632,destabilizing,-1.034397093,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549E,NP_000240:p.Leu549Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.66846,2.33027,2.1716531933046337,Uncertain,Uncertain,True,0.352,2.77522,,,0.61159,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.4397,0.7455,-22.0756,loss_of_function,-5.52087249901016,0.29175173726440534,,,0.9899,pathogenic,0.061400262,neutral,-1.087255847,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549F,NP_000240:p.Leu549Phe,"hg19,3:g.37081763C>T, hg38,3:g.37040272C>T",,3.9798143815e-06,0.760,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.073,0.21361,0.6923950339613807,Uncertain,Uncertain,True,0.352,2.73018,,,-0.17199,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.0,E,-0.2835,0.7455,-22.0756,loss_of_function,-5.39890859449123,0.30680829957214334,,,0.6497,pathogenic,0.057094434,neutral,-0.375495983,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549G,NP_000240:p.Leu549Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.2093,4.23503,3.322624410363441,Destabilizing,Destabilizing,True,0.352,1.61064,,,0.83326,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.4249,0.7455,-22.0756,loss_of_function,-5.7293711709226,0.26601237399038824,,,0.9827,pathogenic,0.085750888,neutral,-0.549941984,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549H,NP_000240:p.Leu549His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.51864,1.50306,1.541742124398866,Uncertain,Uncertain,True,0.352,1.96494,,,-0.01184,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.3925,0.7455,-22.0756,loss_of_function,-5.39890859449123,0.30680829957214334,,,0.9469,pathogenic,0.085372531,neutral,-1.128391511,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549I,NP_000240:p.Leu549Ile,"hg19,3:g.37081763C>A, hg38,3:g.37040272C>A",,,0.602,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05787,2.26939,0.8710156450731615,Uncertain,Uncertain,True,0.352,0.15532,,,0.83045,,,Uncertain,Neutral,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.0,E,-0.1364,0.7455,-4.881,loss_of_function,-1.71920057305825,0.7610718238297626,,,0.2561,benign,-0.035871481,neutral,-0.291752772,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549K,NP_000240:p.Leu549Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39664,1.67993,1.905781380715274,Neutral,Neutral,True,0.352,1.86084,,,0.84855,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.0,E,-0.4387,0.7455,-22.0756,loss_of_function,-4.38001697225399,0.4325914585777339,,,0.9723,pathogenic,-0.135661784,destabilizing,-0.665439111,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549M,NP_000240:p.Leu549Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02055,1.06735,0.9500709231359846,Neutral,Neutral,True,0.352,-0.83336,,,0.0269,,,Uncertain,Neutral,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.0,E,-0.1566,0.7455,-4.2643,loss_of_function,-1.58843105313561,0.7772154478998056,,,0.2585,benign,-0.019365256,neutral,-0.099976919,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549N,NP_000240:p.Leu549Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.49243,2.01156,2.135578429394109,Uncertain,Uncertain,True,0.352,1.52122,,,0.50801,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.4179,0.7455,-22.0756,loss_of_function,-5.52087249901016,0.29175173726440534,,,0.9906,pathogenic,-0.035115801,neutral,-1.077600825,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549P,NP_000240:p.Leu549Pro,,,,,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.15644,6.42653,6.3351581727635775,Destabilizing,Destabilizing,True,0.352,1.2029,,,1.09472,,,Uncertain,Destabilizing,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89816,Conflicting classifications of pathogenicity,1,94.0,E,-0.4335,0.7455,-22.0756,loss_of_function,-5.7293711709226,0.26601237399038824,,,0.9984,pathogenic,-1.213725062,destabilizing,-1.021935518,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549Q,NP_000240:p.Leu549Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.28445,1.94796,1.8838672115166728,Uncertain,Uncertain,True,0.352,1.59756,,,0.36411,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.3708,0.7455,-22.0756,loss_of_function,-4.57424819026076,0.40861342632661923,,,0.9043,pathogenic,0.051667666,neutral,-0.907261403,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549R,NP_000240:p.Leu549Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.21156,1.87415,1.4291395588945504,Uncertain,Uncertain,True,0.352,4.30012,,,0.97295,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,UP,-,neutral,neutral,999452,Uncertain significance,2,94.0,E,-0.4303,0.7455,-22.0756,loss_of_function,-4.38485830776469,0.4319937910132439,,,0.9266,pathogenic,-0.002007829,neutral,-0.71047073,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549S,NP_000240:p.Leu549Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.39589,2.86599,2.7460616062814616,Uncertain,Uncertain,True,0.352,1.75592,,,0.591,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.3046,0.7455,-7.2029,loss_of_function,-3.60769835700273,0.5279349407155303,,,0.9587,pathogenic,0.18889918,stabilizing,-0.949874458,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549T,NP_000240:p.Leu549Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.51306,3.1585,2.218934729111388,Destabilizing,Uncertain,True,0.352,1.42694,,,0.29693,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.0,E,-0.3532,0.7455,-22.0756,loss_of_function,-5.06844601805986,0.3476042251538984,,,0.9326,pathogenic,0.151163715,stabilizing,-1.055006001,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549V,NP_000240:p.Leu549Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65127,2.55612,1.221465481265744,Uncertain,Uncertain,True,0.352,1.11472,,,0.65382,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,525676,Uncertain significance,1,94.0,E,-0.1765,0.7455,-5.618,loss_of_function,-2.01057054409465,0.7251019183006029,,,0.2942,benign,0.005083293,neutral,-0.542081458,damaging,https://doi.org/10.1101/2022.10.22.513328 +L549W,NP_000240:p.Leu549Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50116,0.0568,0.7333426608120632,Neutral,Neutral,True,0.352,4.6423,,,-0.20002,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.0,E,-0.3827,0.7455,-22.0756,loss_of_function,-5.39890859449123,0.30680829957214334,,,0.9148,pathogenic,-0.019586508,neutral,-0.38573275,neutral,https://doi.org/10.1101/2022.10.22.513328 +L549Y,NP_000240:p.Leu549Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.06581,0.17007,1.120436238232818,Uncertain,Uncertain,True,0.352,5.32748,,,0.3476,,,Uncertain,Uncertain,Uncertain,23.1,,True,23.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.0,E,-0.3756,0.7455,-22.0756,loss_of_function,-5.39890859449123,0.30680829957214334,,,0.9318,pathogenic,-0.000613686,neutral,-0.430584828,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550A,NP_000240:p.Leu550Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.31991,3.99184,3.411255205280441,Destabilizing,Destabilizing,True,0.244,-0.00104,,,-0.03272,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.1522,1.9744,-5.466,loss_of_function,-1.65007088281986,0.7696059511397603,,,0.6409,pathogenic,0.110361325,stabilizing,-0.500661149,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550C,NP_000240:p.Leu550Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.60592,3.20408,3.415154226939236,Destabilizing,Destabilizing,True,0.244,-0.00342,,,0.04108,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.1336,1.9744,-3.9299,loss_of_function,-2.09123193580972,0.7151441912585147,,,0.5691,pathogenic,0.006385965,neutral,-0.07379135,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550D,NP_000240:p.Leu550Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.5509,4.40816,4.2902309148425175,Destabilizing,Destabilizing,True,0.244,0.02362,,,-0.02535,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.3585,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9945,pathogenic,-1.183579317,destabilizing,-1.049670217,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550E,NP_000240:p.Leu550Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75723,4.04354,3.9961055744164975,Destabilizing,Destabilizing,True,0.244,-0.00314,,,0.01846,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.3266,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9597,pathogenic,-0.524428208,destabilizing,-1.044933791,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550F,NP_000240:p.Leu550Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06181,0.6915,1.5063065676057554,Uncertain,Uncertain,True,0.244,-0.00278,,,-0.08139,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,2773575,Uncertain significance,1,93.72,E,-0.0975,1.9744,-7.7878,loss_of_function,-2.82549122050288,0.6244991703925111,,,0.2531,benign,0.073449952,neutral,0.027927015,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550G,NP_000240:p.Leu550Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.02595,5.88435,5.122232196936275,Destabilizing,Destabilizing,True,0.244,0.02608,,,-0.01909,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.244,1.9744,-8.7878,loss_of_function,-2.8493916925612,0.621548633935435,,,0.9166,pathogenic,-0.3473176,destabilizing,-1.050410889,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550H,NP_000240:p.Leu550His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.5427,2.78197,2.7035467672771443,Uncertain,Uncertain,True,0.244,-0.00876,,,0.03352,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.2794,1.9744,-22.0756,loss_of_function,-4.38804335395547,0.43160059397176137,,,0.8779,pathogenic,0.13059185,stabilizing,-1.053388756,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550I,NP_000240:p.Leu550Ile,"hg19,3:g.37081766C>A, hg38,3:g.37040275C>A",,,0.581,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87207,1.97755,1.868225996349454,Neutral,Neutral,True,0.244,0.00966,,,-0.03865,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1777186,Uncertain significance,1,93.72,E,-0.0154,1.9744,-3.3285,loss_of_function,-0.490912736764747,0.9127051485575667,,,0.1122,benign,0.027375817,neutral,-0.077682673,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550K,NP_000240:p.Leu550Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.0925,6.30578,4.420370414979362,Destabilizing,Destabilizing,True,0.244,-0.00196,,,-0.02112,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.72,E,-0.3256,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9668,pathogenic,-0.652996841,destabilizing,-0.97260767,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550M,NP_000240:p.Leu550Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27034,1.57075,1.9264207615049755,Neutral,Neutral,True,0.244,0.0157,,,0.06545,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.72,E,-0.0615,1.9744,-7.7878,loss_of_function,-0.458284419367046,0.9167331459870757,,,0.1443,benign,-0.006883962,neutral,-0.118665973,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550N,NP_000240:p.Leu550Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.21827,3.10306,3.0325505563491766,Destabilizing,Destabilizing,True,0.244,0.04426,,,-0.02582,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.3048,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9499,pathogenic,-0.101819243,destabilizing,-0.964165679,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550P,NP_000240:p.Leu550Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.75932,5.62585,7.0250001643032745,Destabilizing,Destabilizing,True,0.244,0.24504,,,0.57341,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89818,Pathogenic,3,93.72,E,-0.3204,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9874,pathogenic,-1.512322374,destabilizing,-1.098358392,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550Q,NP_000240:p.Leu550Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.66976,2.98299,3.051890090290572,Uncertain,Destabilizing,True,0.244,-0.00958,,,-0.13175,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.19,1.9744,-8.7878,loss_of_function,-4.92811591116055,0.364928112959188,,,0.8137,pathogenic,-0.181257296,destabilizing,-1.155988396,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550R,NP_000240:p.Leu550Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.84725,4.68844,3.5961166847617347,Destabilizing,Destabilizing,True,0.244,-0.00474,,,0.0235,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1777213,Likely pathogenic,1,93.72,E,-0.3172,1.9744,-22.0756,loss_of_function,-4.92811591116055,0.364928112959188,,,0.9337,pathogenic,-1.618794201,destabilizing,-1.00436509,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550S,NP_000240:p.Leu550Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.39881,4.75612,4.225456354808181,Destabilizing,Destabilizing,True,0.244,0.00368,,,0.01331,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.1945,1.9744,-7.7878,loss_of_function,-1.69945392883264,0.7635095662120219,,,0.8015,pathogenic,0.06054226,neutral,-0.909056421,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550T,NP_000240:p.Leu550Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.67687,2.76224,3.438158479986411,Uncertain,Destabilizing,True,0.244,0.02326,,,0.03639,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.72,E,-0.1621,1.9744,-6.7879,loss_of_function,-3.50245691207089,0.5409270991678425,,,0.6755,pathogenic,0.0628518,neutral,-0.207989258,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550V,NP_000240:p.Leu550Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57486,2.87313,2.4022615232610574,Uncertain,Uncertain,True,0.244,-0.0103,,,0.02042,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,570087,Uncertain significance,2,93.72,E,-0.0423,1.9744,-1.4841,loss_of_function,-0.373914672909721,0.9271486730188919,,,0.1145,benign,0.003264312,neutral,-0.140518618,neutral,https://doi.org/10.1101/2022.10.22.513328 +L550W,NP_000240:p.Leu550Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.74192,3.73878,2.38189719745565,Destabilizing,Uncertain,True,0.244,0.00098,,,-0.04598,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.72,E,-0.2696,1.9744,-22.0756,loss_of_function,-4.38804335395547,0.43160059397176137,,,0.7504,pathogenic,0.087149602,neutral,-0.532314188,damaging,https://doi.org/10.1101/2022.10.22.513328 +L550Y,NP_000240:p.Leu550Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.2242,1.2585,2.23855722216591,Uncertain,Uncertain,True,0.244,0.01302,,,0.08759,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.72,E,-0.2625,1.9744,-22.0756,loss_of_function,-4.38804335395547,0.43160059397176137,,,0.8401,pathogenic,0.060369813,neutral,-0.58514284,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551A,NP_000240:p.Asn551Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41881,1.36122,1.517760295009502,Uncertain,Uncertain,False,0.126,-0.00708,,,0.01751,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.61,E,-0.2026,1.3632,-22.0756,loss_of_function,-3.31494504875996,0.5640756205645389,,,0.6227,pathogenic,-0.17239187,destabilizing,-1.040739945,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551C,NP_000240:p.Asn551Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.85543,0.99286,1.819760178188691,Uncertain,Uncertain,False,0.126,-0.0136,,,-0.0218,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.61,E,-0.1847,1.3632,-8.7878,loss_of_function,-4.19363674663365,0.45560027820393206,,,0.3781,ambiguous,0.125211822,stabilizing,-0.304438516,neutral,https://doi.org/10.1101/2022.10.22.513328 +N551D,NP_000240:p.Asn551Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18916,1.29524,1.3531432604930955,Neutral,Neutral,False,0.126,0.2693,,,0.01239,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,-,-,uncertain,neutral,1777263,Uncertain significance,1,93.61,E,-0.103,1.3632,-1.9175,loss_of_function,-0.584531340329915,0.9011478411451626,,,0.1757,benign,-0.01857947,neutral,0.193689067,neutral,https://doi.org/10.1101/2022.10.22.513328 +N551E,NP_000240:p.Asn551Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.02671,2.06293,1.7704257249367454,Uncertain,Uncertain,False,0.126,0.34986,,,1e-05,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.233,1.3632,-22.0756,loss_of_function,-3.08646700911815,0.5922814561630769,,,0.7646,pathogenic,0.061092448,neutral,-0.530302275,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551F,NP_000240:p.Asn551Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38032,1.68878,1.0717931230837852,Neutral,Neutral,False,0.126,1.98836,,,0.11271,,,,Uncertain,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.2598,1.3632,-22.0756,loss_of_function,-4.32512326219101,0.4393681403273566,,,0.9315,pathogenic,-0.982818492,destabilizing,-1.016360559,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551G,NP_000240:p.Asn551Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06674,3.80136,2.8684490251201527,Uncertain,Uncertain,False,0.126,-0.01018,,,-0.0145,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.61,E,-0.1575,1.3632,-7.2029,loss_of_function,-4.89068886839736,0.36954851768943237,,,0.6666,pathogenic,-0.063505419,neutral,-1.012440863,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551H,NP_000240:p.Asn551His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4616,0.75544,1.1436002478553076,Neutral,Neutral,False,0.126,0.0792,,,0.01833,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.1347,1.3632,-7.7878,loss_of_function,-2.71145181913139,0.6385774451005864,,,0.19,benign,0.071076462,neutral,-0.169879789,neutral,https://doi.org/10.1101/2022.10.22.513328 +N551I,NP_000240:p.Asn551Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41419,2.0881,1.4965996414991405,Uncertain,Uncertain,False,0.126,0.1588,,,-0.26558,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,1435528,Uncertain significance,2,93.61,E,-0.2529,1.3632,-22.0756,loss_of_function,-4.71227278412123,0.391574156342131,,,0.7507,pathogenic,-1.727367583,destabilizing,-0.987023396,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551K,NP_000240:p.Asn551Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19141,2.07551,2.3051112357167067,Uncertain,Uncertain,False,0.126,-0.046,,,-0.02771,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.1278,1.3632,-6.7879,loss_of_function,-3.15551202814187,0.5837577815966544,,,0.7304,pathogenic,-0.140115116,destabilizing,-0.988934742,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551L,NP_000240:p.Asn551Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55311,0.60136,1.0225260490536336,Neutral,Neutral,False,0.126,0.11596,,,-0.08503,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.1915,1.3632,-8.7878,loss_of_function,-3.85467010327151,0.4974460390965305,,,0.7001,pathogenic,-1.445163009,destabilizing,-1.081949733,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551M,NP_000240:p.Asn551Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75849,0.8966,1.4574634974338054,Neutral,Neutral,False,0.126,0.0459,,,0.02923,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.2135,1.3632,-22.0756,loss_of_function,-4.71227278412123,0.391574156342131,,,0.7972,pathogenic,-0.670618077,destabilizing,-1.01416704,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551P,NP_000240:p.Asn551Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.42838,4.84252,5.948226365220455,Destabilizing,Destabilizing,False,0.126,-0.08444,,,-0.12357,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.61,E,-0.3682,1.3632,-22.0756,loss_of_function,-4.89068886839736,0.36954851768943237,,,0.9337,pathogenic,-0.013360601,neutral,-1.022604546,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551Q,NP_000240:p.Asn551Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47825,2.18673,1.7174692549662975,Uncertain,Uncertain,False,0.126,0.0727,,,0.13585,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.117,1.3632,-6.466,loss_of_function,-1.83647881777471,0.7465937107693411,,,0.612,pathogenic,0.159356723,stabilizing,-0.948230577,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551R,NP_000240:p.Asn551Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29101,1.59864,1.7259090554162866,Neutral,Neutral,False,0.126,-0.06688,,,0.09486,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.1584,1.3632,-6.466,loss_of_function,-2.5599564067758,0.6572797006938744,,,0.6625,pathogenic,-0.267158764,destabilizing,-1.049269137,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551S,NP_000240:p.Asn551Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.69339,1.90374,1.8631527759904387,Uncertain,Uncertain,False,0.126,-0.01354,,,0.03098,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,237316,Benign,3,93.61,E,-0.0929,1.3632,-6.466,loss_of_function,-1.51088200905838,0.7867889526072831,,,0.1387,benign,0.090627362,neutral,-0.020018376,neutral,https://doi.org/10.1101/2022.10.22.513328 +N551T,NP_000240:p.Asn551Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52858,1.9432,1.93459357022226,Neutral,Neutral,False,0.126,-0.07352,,,-0.21277,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,-,-,uncertain,neutral,89819,Conflicting classifications of pathogenicity,1,93.61,E,-0.2221,1.3632,-22.0756,loss_of_function,-4.19363674663365,0.45560027820393206,,,0.5376,ambiguous,-1.304449605,destabilizing,-1.006298999,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551V,NP_000240:p.Asn551Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68662,1.08231,1.1678894584805732,Uncertain,Uncertain,False,0.126,0.26602,,,-0.06996,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.2463,1.3632,-22.0756,loss_of_function,-4.71227278412123,0.391574156342131,,,0.7031,pathogenic,-1.739467853,destabilizing,-1.039764438,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551W,NP_000240:p.Asn551Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94144,2.33571,1.0511191926408376,Uncertain,Uncertain,False,0.126,0.18676,,,-0.19289,,,,Neutral,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.2649,1.3632,-22.0756,loss_of_function,-4.32512326219101,0.4393681403273566,,,0.9481,pathogenic,-1.280274934,destabilizing,-1.072268335,damaging,https://doi.org/10.1101/2022.10.22.513328 +N551Y,NP_000240:p.Asn551Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.86896,2.60408,1.3051094492569184,Uncertain,Neutral,False,0.126,1.88792,,,0.03599,,,,Uncertain,,11.3,,True,11.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.61,E,-0.1653,1.3632,-6.7879,loss_of_function,-4.32512326219101,0.4393681403273566,,,0.4582,ambiguous,-0.296764609,destabilizing,-0.894556971,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552A,NP_000240:p.Thr552Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25908,0.83197,1.2033811072133138,Neutral,Neutral,False,0.081,0.0,,,4e-05,,,,Neutral,,1.0,,True,1.0,,uncertain,,,DOWN,-,neutral,neutral,,,,92.55,H,-0.0507,2.0993,-6.7813,loss_of_function,-0.624138544839506,0.8962582933327488,,,0.1679,benign,-0.171188606,destabilizing,-0.990449444,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552C,NP_000240:p.Thr552Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13486,1.24524,1.565924565448022,Neutral,Neutral,False,0.081,0.0,,,0.05839,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,DOWN,-,neutral,neutral,,,,92.55,H,-0.0968,2.0993,-8.7812,loss_of_function,-2.0628251943866,0.7186510310393831,,,0.4953,ambiguous,-0.123309587,destabilizing,-1.091153712,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552D,NP_000240:p.Thr552Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93306,3.05068,2.8470494085647644,Uncertain,Uncertain,False,0.081,0.0013,,,-0.02536,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,-,-,uncertain,neutral,,,,92.55,H,-0.2443,2.0993,-22.0691,loss_of_function,-4.11545102913914,0.4652523808622933,,,0.9144,pathogenic,-1.651740615,destabilizing,-1.014336656,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552E,NP_000240:p.Thr552Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.42995,3.26769,3.4047791409245107,Destabilizing,Destabilizing,False,0.081,0.01494,,,-0.01956,,0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.2197,2.0993,-22.0691,loss_of_function,-4.11545102913914,0.4652523808622933,,,0.9171,pathogenic,-1.457683769,destabilizing,-1.00052089,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552F,NP_000240:p.Thr552Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.66742,2.49762,2.306059422641656,Uncertain,Uncertain,False,0.081,0.01408,,,-0.10063,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1601,2.0993,-7.1964,loss_of_function,-2.90928073345916,0.6141552737491772,,,0.7753,pathogenic,-0.341733721,destabilizing,-0.974345919,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552G,NP_000240:p.Thr552Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67523,3.19184,3.335538109531617,Uncertain,Uncertain,False,0.081,0.0,,,0.05736,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,DOWN,-,neutral,neutral,,,,92.55,H,-0.2022,2.0993,-22.0691,loss_of_function,-5.16955257842051,0.33512252221239475,,,0.4927,ambiguous,-0.299063628,destabilizing,-1.043219932,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552H,NP_000240:p.Thr552His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75993,2.53605,2.843675242377022,Uncertain,Uncertain,False,0.081,0.0,,,-0.05813,,0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1172,2.0993,-2.6521,loss_of_function,-2.31463457260659,0.6875649190639045,,,0.7059,pathogenic,-0.283264668,destabilizing,-1.08504384,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552I,NP_000240:p.Thr552Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27827,-1.69592,-0.379134038927848,Neutral,Neutral,False,0.081,-0.02432,,,0.07596,,,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,1467499,Uncertain significance,1,92.55,H,-0.0715,2.0993,-5.7813,loss_of_function,-1.18001220731495,0.8276351505487869,,,0.4547,ambiguous,0.137404484,stabilizing,-1.039741689,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552K,NP_000240:p.Thr552Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.66278,5.16395,4.950749253019735,Destabilizing,Destabilizing,False,0.081,-0.113,,,-0.117,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1441,2.0993,-8.7812,loss_of_function,-5.16955257842051,0.33512252221239475,,,0.9165,pathogenic,-1.590153246,destabilizing,-0.995101375,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552L,NP_000240:p.Thr552Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.62431,-0.34558,0.4810840295973023,Neutral,Neutral,False,0.081,0.0,,,-0.02696,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1256,2.0993,-6.1964,loss_of_function,-1.19794761662382,0.8254210068737468,,,0.3056,benign,-0.084410649,destabilizing,-0.976349433,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552M,NP_000240:p.Thr552Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59887,1.30408,1.5215199426678376,Neutral,Neutral,False,0.081,0.0,,,0.01989,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.0955,2.0993,-6.7813,loss_of_function,-2.2742586447697,0.6925493665166711,,,0.1904,benign,0.54978666,stabilizing,-1.103594479,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552N,NP_000240:p.Thr552Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78914,1.68503,1.7871612339445002,Neutral,Neutral,False,0.081,0.0,,,-0.07637,,0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,-,-,uncertain,neutral,,,,92.55,H,-0.1064,2.0993,-6.7813,loss_of_function,-1.53097955855982,0.7843078906283736,,,0.4348,ambiguous,0.098982801,neutral,-0.854878727,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552P,NP_000240:p.Thr552Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29964,6.10476,6.082937205080696,Uncertain,Uncertain,False,0.081,0.05824,,,-0.09014,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,-,-,uncertain,neutral,,,,92.55,H,-0.2931,2.0993,-22.0691,loss_of_function,-5.16955257842051,0.33512252221239475,,,0.625,pathogenic,-1.560271253,destabilizing,-1.006273794,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552Q,NP_000240:p.Thr552Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.769,1.99252,2.423177838348692,Uncertain,Uncertain,False,0.081,0.0,,,-0.02453,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1938,2.0993,-22.0691,loss_of_function,-3.90926972888556,0.49070566235736574,,,0.8122,pathogenic,-0.501561776,destabilizing,-0.909693278,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552R,NP_000240:p.Thr552Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.33745,4.91224,4.246927922272438,Destabilizing,Destabilizing,False,0.081,-0.09716,,,-0.15,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.2147,2.0993,-22.0691,loss_of_function,-5.16955257842051,0.33512252221239475,,,0.8785,pathogenic,-1.844645331,destabilizing,-1.055980498,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552S,NP_000240:p.Thr552Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53378,1.62687,2.1870350189617582,Neutral,Uncertain,False,0.081,0.0,,,-0.01153,,0.0,,Neutral,,1.0,,True,1.0,,neutral,,,DOWN,-,neutral,neutral,,,,92.55,H,-0.0166,2.0993,-7.1964,loss_of_function,-0.635818642057182,0.8948163740025007,,,0.1787,benign,0.047087121,neutral,-0.10077362,neutral,https://doi.org/10.1101/2022.10.22.513328 +T552V,NP_000240:p.Thr552Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36736,-0.91259,-0.2457205131327872,Neutral,Neutral,False,0.081,0.0,,,0.038,,0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.054,2.0993,-4.7814,loss_of_function,-1.38226465411926,0.8026668898226889,,,0.2921,benign,0.056567938,neutral,-1.051587269,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552W,NP_000240:p.Thr552Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.43874,8.26667,3.985819290461,Destabilizing,Destabilizing,False,0.081,0.04288,,,0.14983,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.2289,2.0993,-22.0691,loss_of_function,-3.77571891392753,0.5071926399971531,,,0.9558,pathogenic,-1.35512688,destabilizing,-1.083078029,damaging,https://doi.org/10.1101/2022.10.22.513328 +T552Y,NP_000240:p.Thr552Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.92643,4.20374,3.412559824433044,Destabilizing,Destabilizing,False,0.081,0.02216,,,-0.07771,,-0.0,,Neutral,,1.0,,True,1.0,,uncertain,,,UP,-,neutral,neutral,,,,92.55,H,-0.1356,2.0993,-2.1089,loss_of_function,-2.06704278635048,0.7181303652207274,,,0.8151,pathogenic,-0.182442592,destabilizing,-0.986768944,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553A,NP_000240:p.Thr553Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54207,0.43571,0.1944697476419044,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,DOWN,-,neutral,neutral,633307,Uncertain significance,2,92.65,H,0.016,2.6314,-3.2895,gain_of_function,-1.37571780359247,0.8034751048701234,,,0.0834,benign,0.059463474,neutral,-0.40651916,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553C,NP_000240:p.Thr553Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15731,1.52415,0.8074185960929275,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,DOWN,-,neutral,neutral,,,,92.65,H,-0.0478,2.6314,-8.7812,loss_of_function,-2.03393411149455,0.7222176632443618,,,0.4311,ambiguous,0.165540296,stabilizing,-0.586037635,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553D,NP_000240:p.Thr553Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.32178,2.94558,1.2299078327987318,Uncertain,Uncertain,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,-,-,uncertain,neutral,,,,92.65,H,-0.1106,2.6314,-5.4594,loss_of_function,-2.20863585725577,0.7006505632839294,,,0.5479,ambiguous,0.153578327,stabilizing,-1.046953356,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553E,NP_000240:p.Thr553Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23368,1.3085,0.4719819198295827,Uncertain,Uncertain,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.082,2.6314,-4.6939,loss_of_function,-1.96750630580009,0.7304182402868074,,,0.3565,ambiguous,-0.013051924,neutral,-0.103315801,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553F,NP_000240:p.Thr553Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07506,1.62585,-1.0781344460923683,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.106,2.6314,-6.1964,loss_of_function,-1.66819489324339,0.7673685244741879,,,0.4919,ambiguous,0.042898023,neutral,-0.897396461,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553G,NP_000240:p.Thr553Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99749,1.90612,1.5395117083429473,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,DOWN,-,neutral,neutral,,,,92.65,H,-0.0519,2.6314,-2.1964,loss_of_function,-1.95756986284459,0.7316449038071896,,,0.1893,benign,0.040956783,neutral,-0.209302082,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553H,NP_000240:p.Thr553His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71284,2.43231,-0.2491392523994706,Uncertain,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0944,2.6314,-7.7813,loss_of_function,-1.66442423977179,0.7678340153024782,,,0.363,ambiguous,0.043629624,neutral,-0.373257211,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553I,NP_000240:p.Thr553Ile,"hg19,3:g.37081776C>T",,3.9800044576e-06,0.692,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33181,0.33605,-0.5523581454332466,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,405417,Uncertain significance,2,92.65,H,-0.0379,2.6314,-8.7812,loss_of_function,-3.52680884939748,0.5379208288855148,,,0.4305,ambiguous,0.063321544,neutral,-0.825958546,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553K,NP_000240:p.Thr553Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02035,1.94286,0.1444620692176856,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0808,2.6314,-5.974,loss_of_function,-2.23868655257224,0.6969407758004279,,,0.3095,benign,0.125737217,stabilizing,-0.855447159,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553L,NP_000240:p.Thr553Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0346,-0.39932,-1.0482727543107384,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0847,2.6314,-7.7813,loss_of_function,-2.73148922167421,0.6361038083220562,,,0.2128,benign,0.322184266,stabilizing,-1.023796308,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553M,NP_000240:p.Thr553Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56376,-0.35952,-0.4723203869070363,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0568,2.6314,-8.7812,loss_of_function,-3.81444227991886,0.5024122029070688,,,0.1523,benign,-0.00191622,neutral,-0.466432009,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553N,NP_000240:p.Thr553Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91831,2.35442,0.4579065048671815,Uncertain,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,-,-,uncertain,neutral,1214586,Uncertain significance,2,92.65,H,-0.0523,2.6314,-5.7813,loss_of_function,-1.07382356265117,0.8407442417267124,,,0.2026,benign,0.076094008,neutral,-0.419112503,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553P,NP_000240:p.Thr553Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.82152,9.07891,5.44471365829696,Destabilizing,Destabilizing,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,-,-,uncertain,neutral,,,,92.65,H,-0.1682,2.6314,-7.1964,loss_of_function,-3.77021473522253,0.5078721361968824,,,0.27,benign,0.136604566,stabilizing,-0.909186268,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553Q,NP_000240:p.Thr553Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20077,0.66837,0.2295159574523797,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0601,2.6314,-5.4594,loss_of_function,-1.91413165763389,0.7370073923719084,,,0.251,benign,0.04561566,neutral,-0.148099526,neutral,https://doi.org/10.1101/2022.10.22.513328 +T553R,NP_000240:p.Thr553Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91707,1.82313,-0.465486734895687,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0861,2.6314,-6.4594,loss_of_function,-1.80384691460769,0.7506221508655505,,,0.2084,benign,0.103063043,neutral,-0.534626869,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553S,NP_000240:p.Thr553Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03221,1.04456,0.9010440676737586,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,neutral,,,DOWN,-,neutral,neutral,,,,92.65,H,0.046,2.6314,-4.5334,gain_of_function,-0.563916545084272,0.9036927576128796,,,0.1123,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T553V,NP_000240:p.Thr553Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.38356,0.53367,-0.4391122323758195,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.0078,2.6314,-5.3219,loss_of_function,-1.83147740808556,0.7472111396464195,,,0.2548,benign,0.090983037,neutral,-0.901562678,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553W,NP_000240:p.Thr553Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10876,1.41361,-1.5626070931197815,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.1799,2.6314,-22.0691,loss_of_function,-3.61794550603359,0.5266699202287857,,,0.7531,pathogenic,0.063156552,neutral,-0.680689208,damaging,https://doi.org/10.1101/2022.10.22.513328 +T553Y,NP_000240:p.Thr553Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39497,1.65952,-0.8874700447193101,Neutral,Neutral,False,0.054,,,,,,,,,,18.1,,True,18.1,,uncertain,,,UP,-,neutral,neutral,,,,92.65,H,-0.1885,2.6314,-22.0691,loss_of_function,-2.80325941805041,0.6272437079682738,,,0.4957,ambiguous,0.219206521,stabilizing,-0.791278836,damaging,https://doi.org/10.1101/2022.10.22.513328 +K554A,NP_000240:p.Lys554Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9082,-0.18741,0.3715755781955526,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.042,2.8857,-2.8473,gain_of_function,-0.751033505368757,0.8805929873778211,,,0.2061,benign,0.160781005,stabilizing,-0.299021648,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554C,NP_000240:p.Lys554Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48794,0.98231,0.908635574276091,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,-0.0585,2.8857,-8.7779,loss_of_function,-1.79223300758488,0.7520558989520434,,,0.3945,ambiguous,0.087969835,neutral,-0.092408069,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554D,NP_000240:p.Lys554Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25923,1.23707,1.0333474134472012,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,-0.0871,2.8857,-6.778,loss_of_function,-1.67191462346148,0.7669093201709348,,,0.508,ambiguous,0.159547463,stabilizing,-0.342747074,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554E,NP_000240:p.Lys554Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02204,0.87619,0.4590479709649386,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0038,2.8857,-5.4561,gain_of_function,-0.798097034015532,0.8747829491186557,,,0.1585,benign,0.103218006,neutral,-0.08725379,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554F,NP_000240:p.Lys554Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75436,0.82959,-0.4036982681430395,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,H,-0.0543,2.8857,-7.778,loss_of_function,-3.54893368020445,0.5351894970631427,,,0.6209,pathogenic,0.241082945,stabilizing,-0.158104487,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554G,NP_000240:p.Lys554Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.1621,1.44354,1.7859275513876942,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,-0.1153,2.8857,-22.0658,loss_of_function,-3.54893368020445,0.5351894970631427,,,0.2659,benign,0.056609293,neutral,-0.021115954,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554H,NP_000240:p.Lys554His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09101,0.91565,0.0155155615853663,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0186,2.8857,-5.4561,gain_of_function,-3.54893368020445,0.5351894970631427,,,0.1971,benign,0.038938469,neutral,-0.161559212,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554I,NP_000240:p.Lys554Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16292,3.10544,-0.9942357401684536,Uncertain,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,H,-0.0148,2.8857,-6.4561,loss_of_function,-1.99736491586188,0.726732165914303,,,0.2535,benign,0.021034852,neutral,-0.086081434,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554L,NP_000240:p.Lys554Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29185,0.33639,-0.9465772266535384,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,H,-0.0091,2.8857,-5.6081,loss_of_function,-1.73442054442127,0.7591929036028874,,,0.2403,benign,0.083826555,neutral,-0.05287965,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554M,NP_000240:p.Lys554Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10393,0.14694,-0.2296527740976867,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0262,2.8857,-3.9707,gain_of_function,-2.9313289004571,0.6114334061483875,,,0.1931,benign,0.041510059,neutral,-0.062152148,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554N,NP_000240:p.Lys554Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25188,1.1619,0.7672565066101739,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0124,2.8857,-5.0776,gain_of_function,-0.842087863273796,0.8693522385792657,,,0.3137,benign,0.009948861,neutral,-0.141601656,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554P,NP_000240:p.Lys554Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.11722,6.28095,4.490847770560095,Uncertain,Uncertain,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,-0.1626,2.8857,-8.7779,loss_of_function,-2.14734983115048,0.7082163826489918,,,0.7425,pathogenic,0.068221948,neutral,-1.042908593,damaging,https://doi.org/10.1101/2022.10.22.513328 +K554Q,NP_000240:p.Lys554Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60052,0.61939,0.288238704446212,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0287,2.8857,-5.6081,gain_of_function,-0.626196752581275,0.8960042055907366,,,0.0981,benign,0.072158475,neutral,-0.050847657,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554R,NP_000240:p.Lys554Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30646,1.12075,-0.1863164851625715,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,H,0.1051,2.8857,-3.4927,gain_of_function,-0.0168282727144151,0.9712313354672067,,,0.0639,benign,0.060246883,neutral,0.052328046,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554S,NP_000240:p.Lys554Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.9522,1.35816,1.053784589955045,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0256,2.8857,-4.0776,gain_of_function,-0.712213861813693,0.8853853100265298,,,0.2573,benign,0.057124199,neutral,-0.104764894,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554T,NP_000240:p.Lys554Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34382,1.4068,0.326324665038688,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0106,2.8857,-4.6906,gain_of_function,-0.721039122925997,0.8842958229824442,,,0.1315,benign,-0.049774355,neutral,-0.143220638,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554V,NP_000240:p.Lys554Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11994,0.65816,-0.8560468023464918,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,H,0.0078,2.8857,-5.1931,gain_of_function,-2.07687267402189,0.7169168560535157,,,0.2215,benign,0.039686278,neutral,-0.04340692,neutral,https://doi.org/10.1101/2022.10.22.513328 +K554W,NP_000240:p.Lys554Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74384,0.62143,-0.7897282141098849,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,H,-0.1362,2.8857,-22.0658,loss_of_function,-3.54893368020445,0.5351894970631427,,,0.5392,ambiguous,0.284609972,stabilizing,-0.869349637,damaging,https://doi.org/10.1101/2022.10.22.513328 +K554Y,NP_000240:p.Lys554Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83898,0.77279,-0.3115432722363626,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,48.2,,True,48.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,H,-0.1121,2.8857,-22.0658,loss_of_function,-3.54893368020445,0.5351894970631427,,,0.4472,ambiguous,0.083988575,neutral,-0.343707357,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555A,NP_000240:p.Leu555Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.03847,3.35646,3.9733042719769727,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.1706,1.7228,-4.5301,loss_of_function,-2.93054453019733,0.6115302374177302,,,0.7056,pathogenic,0.059965332,neutral,-0.979791894,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555C,NP_000240:p.Leu555Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.7954,2.99762,3.934358225804776,Uncertain,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.1815,1.7228,-8.7779,loss_of_function,-3.1428742491045,0.5853179276764157,,,0.7183,pathogenic,0.025807287,neutral,-0.824805453,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555D,NP_000240:p.Leu555Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.40495,4.52007,5.231062359485805,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.3816,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9959,pathogenic,-1.710237917,destabilizing,-1.0612308,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555E,NP_000240:p.Leu555Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.47427,4.1983,4.739098183559498,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.3497,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9828,pathogenic,-1.47765622,destabilizing,-1.074367114,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555F,NP_000240:p.Leu555Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88023,2.51803,2.310146905486264,Uncertain,Uncertain,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.93,H,-0.1053,1.7228,-4.7781,loss_of_function,-1.82905968521945,0.7475096098792314,,,0.2105,benign,0.193094361,stabilizing,-0.437131419,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555G,NP_000240:p.Leu555Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.39595,5.44354,6.106329937367458,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.335,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9328,pathogenic,-1.400572986,destabilizing,-1.006659358,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555H,NP_000240:p.Leu555His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43082,2.84184,3.513157322258622,Uncertain,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1777551,Uncertain significance,1,92.93,H,-0.3025,1.7228,-22.0658,loss_of_function,-4.48899260837488,0.41913831060127754,,,0.9376,pathogenic,0.043784258,neutral,-1.024111073,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555I,NP_000240:p.Leu555Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.00812,1.68129,2.1546231304289987,Uncertain,Uncertain,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.93,H,-0.0385,1.7228,-3.3186,loss_of_function,-1.47119977195339,0.7916877632663744,,,0.1154,benign,-0.050456814,neutral,-0.219798693,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555K,NP_000240:p.Leu555Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.53296,7.15782,6.935686768754772,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.93,H,-0.3487,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9842,pathogenic,-1.44642445,destabilizing,-1.051842641,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555M,NP_000240:p.Leu555Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07487,1.16054,2.042468954795363,Neutral,Uncertain,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.93,H,-0.0754,1.7228,-5.9707,loss_of_function,-2.07345512069736,0.7173387563261724,,,0.1585,benign,0.104793453,neutral,-0.349474653,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555N,NP_000240:p.Leu555Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30217,3.40272,3.641848013514416,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.2601,1.7228,-8.7779,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9686,pathogenic,-0.761415974,destabilizing,-0.898403931,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555P,NP_000240:p.Leu555Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.6853,12.24456,8.815378798540786,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89822,Likely pathogenic,3,92.93,H,-0.3435,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9809,pathogenic,-1.784935901,destabilizing,-1.052700854,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555Q,NP_000240:p.Leu555Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.60399,2.99864,3.5755564861254228,Uncertain,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.2809,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.923,pathogenic,-0.762853838,destabilizing,-1.060690505,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555R,NP_000240:p.Leu555Arg,"hg19,3:g.37081782T>G, hg38,3:g.37040291T>G",,,0.843,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.91493,7.31259,5.935874749361605,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,433869,Pathogenic/Likely pathogenic,2,92.93,H,-0.3403,1.7228,-22.0658,loss_of_function,-5.29425018012475,0.31972848233567064,,,0.9641,pathogenic,-1.614937383,destabilizing,-1.084189834,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555S,NP_000240:p.Leu555Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.6534,4.23333,4.955635591106936,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.2905,1.7228,-22.0658,loss_of_function,-4.19884355884775,0.4549574921859251,,,0.9052,pathogenic,-0.626215553,destabilizing,-0.985856758,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555T,NP_000240:p.Leu555Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16352,3.70306,3.9278456353143256,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.93,H,-0.1785,1.7228,-5.4561,loss_of_function,-4.19884355884775,0.4549574921859251,,,0.7587,pathogenic,-0.096666774,destabilizing,-1.089829788,damaging,https://doi.org/10.1101/2022.10.22.513328 +L555V,NP_000240:p.Leu555Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.70291,2.49694,2.6641592288268976,Uncertain,Uncertain,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2203331,Uncertain significance,1,92.93,H,-0.0742,1.7228,-3.1931,loss_of_function,-1.66453507636536,0.7678203324174997,,,0.1404,benign,0.016936588,neutral,-0.294801406,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555W,NP_000240:p.Leu555Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.15008,6.29932,4.492540868499058,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.93,H,-0.2249,1.7228,-8.7779,loss_of_function,-4.48899260837488,0.41913831060127754,,,0.7026,pathogenic,0.197724537,stabilizing,-0.410313538,neutral,https://doi.org/10.1101/2022.10.22.513328 +L555Y,NP_000240:p.Leu555Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.46062,4.66122,3.634816327742517,Destabilizing,Destabilizing,False,0.05,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.93,H,-0.2856,1.7228,-22.0658,loss_of_function,-4.48899260837488,0.41913831060127754,,,0.7736,pathogenic,0.095582062,neutral,-0.970122393,damaging,https://doi.org/10.1101/2022.10.22.513328 +S556A,NP_000240:p.Ser556Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32749,-0.77653,-1.1518701200367054,Neutral,Neutral,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,-,-,uncertain,neutral,,,,93.07,H,-0.0098,1.8654,-2.8408,loss_of_function,-1.53094722793814,0.784311881874978,,,0.1355,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556C,NP_000240:p.Ser556Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.01491,1.30646,-0.438161484002425,Uncertain,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.0592,1.8654,-2.6217,loss_of_function,-1.99499672828658,0.7270245209674193,,,0.1398,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556D,NP_000240:p.Ser556Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89291,1.54898,1.509925790453203,Uncertain,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.2066,1.8654,-22.0592,loss_of_function,-4.90562219627633,0.3677049838786836,,,0.9793,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556E,NP_000240:p.Ser556Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.52812,4.78333,2.5670257367965474,Destabilizing,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1798,1.8654,-22.0592,loss_of_function,-4.90562219627633,0.3677049838786836,,,0.9713,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556F,NP_000240:p.Ser556Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.31828,3.27823,2.3177671809178504,Destabilizing,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.186,1.8654,-22.0592,loss_of_function,-3.4141966453786,0.5518229146961474,,,0.8725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556G,NP_000240:p.Ser556Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3719,1.68707,0.7874310692751598,Uncertain,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,1777572,Uncertain significance,1,93.07,H,-0.0361,1.8654,-6.1865,loss_of_function,-3.23597420120936,0.5738246482898355,,,0.2002,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556H,NP_000240:p.Ser556His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.35852,4.32415,2.522598927550926,Destabilizing,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1872,1.8654,-22.0592,loss_of_function,-3.94906168888995,0.4857933062999215,,,0.9558,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556I,NP_000240:p.Ser556Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41878,3.22585,0.0463046297630309,Uncertain,Neutral,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,89825,Pathogenic,3,93.07,H,-0.1081,1.8654,-6.1865,loss_of_function,-2.79312812522274,0.6284944258943638,,,0.6825,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556K,NP_000240:p.Ser556Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.9177,10.95884,5.668390009275921,Destabilizing,Destabilizing,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1965,1.8654,-22.0592,loss_of_function,-4.67264917658426,0.39646572912418426,,,0.9949,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556L,NP_000240:p.Ser556Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92532,3.6602,0.3402690123835789,Uncertain,Neutral,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1006,1.8654,-5.4496,loss_of_function,-2.3113648905929,0.6879685644798149,,,0.3841,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556M,NP_000240:p.Ser556Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71927,3.22211,0.7622102593627988,Destabilizing,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.0805,1.8654,-7.1865,loss_of_function,-2.79577250498071,0.6281679746484132,,,0.5079,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556N,NP_000240:p.Ser556Asn,"hg19,3:g.37081785G>A",,,0.433,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.3076,1.70408,0.2632269746343346,Uncertain,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,449776,Pathogenic/Likely pathogenic,2,93.07,H,-0.1302,1.8654,-22.0592,loss_of_function,-3.77659813542949,0.5070840992499642,,,0.807,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556P,NP_000240:p.Ser556Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.00344,6.40102,5.782072682231496,Destabilizing,Destabilizing,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1936,1.8654,-8.7714,loss_of_function,-5.20769663116851,0.3304136019040853,,,0.981,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556Q,NP_000240:p.Ser556Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.18596,3.7381,1.6014857677412897,Destabilizing,Uncertain,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.082,1.8654,-8.7714,loss_of_function,-4.90562219627633,0.3677049838786836,,,0.9486,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556R,NP_000240:p.Ser556Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.81719,9.1415,4.265865912452097,Destabilizing,Destabilizing,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,"1777619, 1777569, 973383","Uncertain significance, Uncertain significance, Likely pathogenic","1, 1, 0",93.07,H,-0.1289,1.8654,-7.7714,loss_of_function,-2.34542385430817,0.6837639523747937,,,0.9856,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556T,NP_000240:p.Ser556Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49758,0.0102,-0.5087480862732446,Neutral,Neutral,False,0.07,,,,,,,,,,0.0,,True,0.0,,neutral,,,UP,-,neutral,neutral,185187,Conflicting classifications of pathogenicity,1,93.07,H,-0.0114,1.8654,-4.9641,loss_of_function,-1.57151392808542,0.7793038833954603,,,0.1213,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556V,NP_000240:p.Ser556Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02165,1.3102,-0.976334178993522,Neutral,Neutral,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.0956,1.8654,-8.7714,loss_of_function,-2.33029526500364,0.6856315913979153,,,0.5108,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556W,NP_000240:p.Ser556Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),17.26866,7.73163,5.141169141671132,Destabilizing,Destabilizing,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1957,1.8654,-22.0592,loss_of_function,-4.15497339278987,0.46037330673619453,,,0.9278,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +S556Y,NP_000240:p.Ser556Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.07882,4.34558,3.853809583214084,Destabilizing,Destabilizing,False,0.07,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,93.07,H,-0.1908,1.8654,-22.0592,loss_of_function,-4.15497339278987,0.46037330673619453,,,0.8997,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E557A,NP_000240:p.Glu557Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08124,0.78401,1.0605123406019008,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,0.0071,2.6302,-5.4462,gain_of_function,-0.626755690511797,0.8959352041610901,,,0.1716,benign,0.079519645,neutral,-0.160920058,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557C,NP_000240:p.Glu557Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90485,1.0619,1.736664541352848,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,-0.069,2.6302,-6.7682,loss_of_function,-2.1404695369072,0.7090657616466397,,,0.7577,pathogenic,-0.03983458,neutral,-0.246231409,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557D,NP_000240:p.Glu557Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20928,2.07143,1.6372421810742668,Uncertain,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,0.0362,2.6302,-6.4462,gain_of_function,-1.17261773638465,0.8285480051571561,,,0.562,ambiguous,0.00408365,neutral,-0.437897799,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557F,NP_000240:p.Glu557Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.76698,-0.65986,-0.0641916408731813,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0345,2.6302,-4.3759,loss_of_function,-1.60136675275525,0.7756185232352047,,,0.8342,pathogenic,-0.091886603,destabilizing,-0.264730033,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557G,NP_000240:p.Glu557Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36745,2.14218,2.258417230285986,Uncertain,Uncertain,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819789,Uncertain significance,2,94.22,H,-0.1034,2.6302,-22.0559,loss_of_function,-2.48952059754467,0.6659750696603529,,,0.1626,benign,0.023363784,neutral,-0.660109485,damaging,https://doi.org/10.1101/2022.10.22.513328 +E557H,NP_000240:p.Glu557His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30008,0.73197,0.6846217989961539,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0482,2.6302,-8.768,loss_of_function,-2.46390924313565,0.6691368162030371,,,0.5436,ambiguous,-0.086213862,destabilizing,-0.045355251,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557I,NP_000240:p.Glu557Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.68731,0.40034,0.3223585524102751,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.13,2.6302,-22.0559,loss_of_function,-2.68949850360502,0.6412876031952129,,,0.4654,ambiguous,0.042208585,neutral,-0.709790964,damaging,https://doi.org/10.1101/2022.10.22.513328 +E557K,NP_000240:p.Glu557Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26478,1.13435,1.1646321697512183,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,449062,Uncertain significance,2,94.22,H,-0.0082,2.6302,-4.1243,loss_of_function,-0.717425696411771,0.8847419039903495,,,0.1145,benign,0.016575459,neutral,-0.286043716,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557L,NP_000240:p.Glu557Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.02824,-0.04762,0.2180083604542831,Uncertain,Uncertain,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0644,2.6302,-8.768,loss_of_function,-2.00642923217008,0.7256131672744204,,,0.4745,ambiguous,-0.009781128,neutral,-0.420034601,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557M,NP_000240:p.Glu557Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.1316,0.76905,0.7124570373954492,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0051,2.6302,-7.1832,loss_of_function,-1.6624877749854,0.7680730737585684,,,0.422,ambiguous,-0.008531312,neutral,-0.220703402,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557N,NP_000240:p.Glu557Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67715,1.48946,1.610255124815052,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,-0.0118,2.6302,-4.0133,loss_of_function,-1.26521465471023,0.8171168257785292,,,0.5277,ambiguous,0.012304542,neutral,-0.306381015,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557P,NP_000240:p.Glu557Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.2238,11.29184,7.262642003550655,Destabilizing,Destabilizing,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,-0.2347,2.6302,-22.0559,loss_of_function,-3.11281774556047,0.5890284321912428,,,0.9584,pathogenic,-1.690824315,destabilizing,-0.978386953,damaging,https://doi.org/10.1101/2022.10.22.513328 +E557Q,NP_000240:p.Glu557Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37061,0.32143,1.0349424266571368,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,0.0521,2.6302,-2.0133,gain_of_function,-0.188195915804734,0.9500758337153001,,,0.0895,benign,-0.047931127,neutral,0.026043486,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557R,NP_000240:p.Glu557Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25103,1.48469,0.9805964573178072,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.073,2.6302,-4.9608,loss_of_function,-0.753003480700685,0.8803497920123818,,,0.1729,benign,0.029890517,neutral,-0.346619438,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557S,NP_000240:p.Glu557Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22158,1.51497,1.760127078788262,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,-0.0064,2.6302,-5.4462,loss_of_function,-1.10712819949466,0.8366327520056468,,,0.26,benign,0.0312014,neutral,-0.19406676,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557T,NP_000240:p.Glu557Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62246,0.56837,1.3321731165352324,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.22,H,-0.0341,2.6302,-7.7681,loss_of_function,-1.78468204094311,0.7529880731077815,,,0.2629,benign,0.029229212,neutral,-0.28170764,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557V,NP_000240:p.Glu557Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03753,0.11905,0.5135249698010288,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.22,H,-0.0909,2.6302,-22.0559,loss_of_function,-2.68949850360502,0.6412876031952129,,,0.2806,benign,0.017606383,neutral,-0.45723736,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557W,NP_000240:p.Glu557Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67925,-0.21531,-0.1923596614403555,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0619,2.6302,-7.7681,loss_of_function,-1.46864034825983,0.792003726603773,,,0.9055,pathogenic,0.090190092,neutral,-0.392283774,neutral,https://doi.org/10.1101/2022.10.22.513328 +E557Y,NP_000240:p.Glu557Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82009,-0.35408,0.2951407185003957,Neutral,Neutral,False,0.063,,,,,,,,,,19.5,,False,19.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.22,H,-0.0357,2.6302,-4.4463,loss_of_function,-1.72180425529366,0.7607503967324453,,,0.7132,pathogenic,-0.067115831,neutral,-0.043905015,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558A,NP_000240:p.Glu558Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46772,-0.08061,0.4057261254329974,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1777740,Uncertain significance,1,93.66,H,-0.1824,0.5997,-5.9608,loss_of_function,-3.3318558846617,0.5619879614703602,,,0.2193,benign,0.067726028,neutral,0.027724858,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558C,NP_000240:p.Glu558Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85362,0.13197,1.158585472064252,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.3339,0.5997,-22.0559,loss_of_function,-4.69779079644219,0.3933619717674359,,,0.8427,pathogenic,0.01098644,neutral,0.041030973,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558D,NP_000240:p.Glu558Asp,"hg38,3:g.37042274A>C",,,0.661,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2984,1.31122,1.0245536184484278,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.1481,0.5997,-5.9608,loss_of_function,-2.13528119884855,0.7097062670122378,,,0.5757,pathogenic,0.175710169,stabilizing,-0.826792523,damaging,https://doi.org/10.1101/2022.10.22.513328 +E558F,NP_000240:p.Glu558Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39232,-0.73265,-0.2821774442333707,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.3115,0.5997,-22.0559,loss_of_function,-4.69779079644219,0.3933619717674359,,,0.8687,pathogenic,0.086027064,neutral,-0.416887571,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558G,NP_000240:p.Glu558Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20356,1.83265,1.962628946308849,Uncertain,Uncertain,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.2225,0.5997,-8.768,loss_of_function,-5.67287392834126,0.27298701338469616,,,0.4339,ambiguous,0.07087409,neutral,-0.894279509,damaging,https://doi.org/10.1101/2022.10.22.513328 +E558H,NP_000240:p.Glu558His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37746,0.02041,0.1528715917543571,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.2218,0.5997,-6.1832,loss_of_function,-2.89299150621899,0.6161661946511761,,,0.681,pathogenic,0.037904036,neutral,0.017701606,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558I,NP_000240:p.Glu558Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.8144,-1.32891,-0.1490271232397833,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.2491,0.5997,-8.768,loss_of_function,-4.34061566320036,0.43745558839640775,,,0.4803,ambiguous,0.009789061,neutral,-0.248080378,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558K,NP_000240:p.Glu558Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05526,0.59728,0.8731270802523877,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.2136,0.5997,-7.7681,loss_of_function,-3.17379531415883,0.5815006922045889,,,0.4729,ambiguous,0.408182793,stabilizing,-0.630804348,damaging,https://doi.org/10.1101/2022.10.22.513328 +E558L,NP_000240:p.Glu558Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.54597,-0.4415,-0.3643697392892042,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.2512,0.5997,-8.768,loss_of_function,-3.86527062870588,0.4961373939500267,,,0.6247,pathogenic,-0.01493013,neutral,-0.510220966,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558M,NP_000240:p.Glu558Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.64911,0.31156,0.0168392519986887,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.2,0.5997,-8.768,loss_of_function,-4.52998909172418,0.41407725496861636,,,0.5734,pathogenic,0.006507713,neutral,-0.239568036,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558N,NP_000240:p.Glu558Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58488,0.40816,0.651456973131109,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.2907,0.5997,-22.0559,loss_of_function,-2.35976205372951,0.6819938877493645,,,0.5017,ambiguous,0.070323613,neutral,-0.391428934,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558P,NP_000240:p.Glu558Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.38487,8.38912,6.114558611177503,Destabilizing,Destabilizing,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.4215,0.5997,-22.0559,loss_of_function,-5.67287392834126,0.27298701338469616,,,0.9907,pathogenic,-1.58026266,destabilizing,-1.07857833,damaging,https://doi.org/10.1101/2022.10.22.513328 +E558Q,NP_000240:p.Glu558Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16387,-0.14932,0.3341072785660076,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.1641,0.5997,-7.7681,loss_of_function,-2.51476397282138,0.6628587504984619,,,0.2465,benign,-0.122238674,destabilizing,-0.101838466,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558R,NP_000240:p.Glu558Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3985,0.23401,0.3702592376683078,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.347,0.5997,-22.0559,loss_of_function,-4.17584268246789,0.4577969726839622,,,0.6182,pathogenic,-0.04495625,neutral,-0.351038035,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558S,NP_000240:p.Glu558Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48739,0.7585,1.3514943360663818,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.2021,0.5997,-7.1832,loss_of_function,-3.39338580816861,0.5543920327345074,,,0.3951,ambiguous,0.040630721,neutral,-0.071610048,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558T,NP_000240:p.Glu558Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78665,-0.52313,0.7303212456465341,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.66,H,-0.2261,0.5997,-8.768,loss_of_function,-4.69779079644219,0.3933619717674359,,,0.405,ambiguous,-0.000716148,neutral,-0.127006677,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558V,NP_000240:p.Glu558Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28375,-1.53605,-0.1097214869782481,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.66,H,-0.2778,0.5997,-22.0559,loss_of_function,-4.83217343862151,0.37677230425037683,,,0.3047,benign,0.020374412,neutral,-0.225821104,neutral,https://doi.org/10.1101/2022.10.22.513328 +E558W,NP_000240:p.Glu558Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14579,-1.32313,-0.8781362865332021,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.3216,0.5997,-22.0559,loss_of_function,-4.69779079644219,0.3933619717674359,,,0.9657,pathogenic,0.130750382,stabilizing,-0.74128489,damaging,https://doi.org/10.1101/2022.10.22.513328 +E558Y,NP_000240:p.Glu558Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3487,-0.60816,-0.3129794788916307,Neutral,Neutral,False,0.098,,,,,,,Uncertain,Uncertain,Uncertain,21.6,,True,21.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.66,H,-0.3124,0.5997,-22.0559,loss_of_function,-4.69779079644219,0.3933619717674359,,,0.7792,pathogenic,0.07575837,neutral,-0.244663643,neutral,https://doi.org/10.1101/2022.10.22.513328 +L559A,NP_000240:p.Leu559Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.57431,3.48231,3.61296831246651,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.2327,1.283,-8.7647,loss_of_function,-3.46861057775299,0.5451054619675256,,,0.61,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559C,NP_000240:p.Leu559Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9502,3.47823,3.9305728189876,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.2897,1.283,-22.0526,loss_of_function,-3.20831680334701,0.5772389808813256,,,0.5826,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559D,NP_000240:p.Leu559Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.68539,5.34898,5.067794629841272,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.422,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.9918,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559E,NP_000240:p.Leu559Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.04769,5.32789,4.525944112603632,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.3901,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.9576,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559F,NP_000240:p.Leu559Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71858,3.35884,1.865748321180651,Destabilizing,Uncertain,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.07,H,-0.1419,1.283,-4.01,loss_of_function,-2.25803332357195,0.6945523981557498,,,0.2018,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559G,NP_000240:p.Leu559Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.5173,5.28639,5.869379300986886,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.3075,1.283,-8.7647,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.8356,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559H,NP_000240:p.Leu559His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.83031,4.40102,3.3111360818658424,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.2632,1.283,-6.4429,loss_of_function,-2.64344294419069,0.6469732066749864,,,0.7763,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559I,NP_000240:p.Leu559Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91757,4.47585,2.062792920100544,Uncertain,Uncertain,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.07,H,-0.1746,1.283,-22.0526,loss_of_function,-2.48617330220284,0.6663882965169009,,,0.2004,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559K,NP_000240:p.Leu559Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.05277,6.67279,5.92084710175716,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.07,H,-0.3891,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.9428,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559M,NP_000240:p.Leu559Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11457,0.67109,1.8475721363169395,Neutral,Neutral,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,418304,Conflicting classifications of pathogenicity,1,94.07,H,-0.1102,1.283,-4.858,loss_of_function,-0.395601433178256,0.9244714214293818,,,0.1132,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559N,NP_000240:p.Leu559Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.70165,3.86973,3.7027444387703614,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.3683,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.9128,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559P,NP_000240:p.Leu559Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.98743,16.07959,8.718985307261066,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,219290,Likely pathogenic,3,94.07,H,-0.3839,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.9892,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559Q,NP_000240:p.Leu559Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83912,4.00102,3.552434963418496,Uncertain,Uncertain,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.3213,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.7613,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559R,NP_000240:p.Leu559Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.03333,6.67381,4.704861012246783,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89836,Uncertain significance,3,94.07,H,-0.3807,1.283,-22.0526,loss_of_function,-5.06425298298273,0.34812185940106655,,,0.8942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559S,NP_000240:p.Leu559Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.55933,4.90204,4.883569537563763,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.3309,1.283,-22.0526,loss_of_function,-3.22905727191085,0.5746785499205845,,,0.7818,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559T,NP_000240:p.Leu559Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31691,3.97925,3.623341500608954,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.2358,1.283,-8.7647,loss_of_function,-4.29263933849477,0.44337831221437035,,,0.6387,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559V,NP_000240:p.Leu559Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53025,4.1983,2.344017036539494,Uncertain,Uncertain,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.07,H,-0.1312,1.283,-6.4429,loss_of_function,-1.80589711730654,0.7503690513538509,,,0.1746,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559W,NP_000240:p.Leu559Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.93994,9.14456,3.297315167367532,Destabilizing,Destabilizing,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.07,H,-0.2653,1.283,-8.7647,loss_of_function,-3.55694502005173,0.5342004893886605,,,0.6285,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L559Y,NP_000240:p.Leu559Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.75879,5.7466,2.925101460160977,Destabilizing,Uncertain,True,0.198,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.07,H,-0.23,1.283,-3.2413,loss_of_function,-2.70958398559035,0.6388080309628715,,,0.611,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560A,NP_000240:p.Phe560Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.77032,4.17041,4.908930418154132,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.3131,0.6039,-6.4429,loss_of_function,-3.45511153763503,0.5467719315630376,,,0.8974,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560C,NP_000240:p.Phe560Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.0751,4.2102,5.110064154336357,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.285,0.6039,-7.1799,loss_of_function,-4.87955626285794,0.37092284864097824,,,0.5541,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560D,NP_000240:p.Phe560Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.21529,5.9085,6.175363246316278,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.5157,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560E,NP_000240:p.Phe560Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.34135,5.01973,5.679849181573544,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4851,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560G,NP_000240:p.Phe560Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.52197,6.08878,6.743351055106458,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.3552,0.6039,-7.7648,loss_of_function,-4.28213371187837,0.4446752420097518,,,0.9557,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560H,NP_000240:p.Phe560His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.56829,2.87109,3.019640427513117,Uncertain,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4203,0.6039,-22.0526,loss_of_function,-3.74404995698155,0.5111022034483971,,,0.9512,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560I,NP_000240:p.Phe560Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99575,2.52959,3.206473928492648,Uncertain,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.2638,0.6039,-7.7648,loss_of_function,-3.85850079958569,0.4969731359210872,,,0.7631,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560K,NP_000240:p.Phe560Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.86477,6.07857,6.198748442337155,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.492,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9976,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560L,NP_000240:p.Phe560Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.853,2.92993,2.089653769770904,Uncertain,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"3230757, 2452054, 1493244","Uncertain significance, Uncertain significance, Uncertain significance","1, 1, 1",94.64,H,-0.2157,0.6039,-5.7649,loss_of_function,-3.2213498940907,0.5756300331879995,,,0.9433,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560M,NP_000240:p.Phe560Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51785,1.82517,2.5888150049229024,Neutral,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.2444,0.6039,-5.3054,loss_of_function,-3.09578676995404,0.591130922648491,,,0.8073,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560N,NP_000240:p.Phe560Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53136,4.25374,4.693613637056123,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4454,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9648,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560P,NP_000240:p.Phe560Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.20294,11.65204,8.97812593652997,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.5161,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560Q,NP_000240:p.Phe560Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.24403,3.76837,4.544402645365813,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4475,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.9847,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560R,NP_000240:p.Phe560Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.06488,6.1119,5.015491430050499,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4934,0.6039,-22.0526,loss_of_function,-5.92000379911504,0.2424785911421864,,,0.99,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560S,NP_000240:p.Phe560Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.7327,5.41259,5.91760708037124,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,3230758,Uncertain significance,1,94.64,H,-0.3718,0.6039,-22.0526,loss_of_function,-4.87955626285794,0.37092284864097824,,,0.8464,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560T,NP_000240:p.Phe560Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.87741,4.7602,5.059632087285477,Destabilizing,Destabilizing,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.4181,0.6039,-22.0526,loss_of_function,-4.87955626285794,0.37092284864097824,,,0.9554,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560V,NP_000240:p.Phe560Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93021,3.19762,3.5757243930374583,Uncertain,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.64,H,-0.2632,0.6039,-8.7647,loss_of_function,-3.87189032519976,0.49532018599730043,,,0.7267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560W,NP_000240:p.Phe560Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96806,3.81429,1.0595589420884743,Destabilizing,Uncertain,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.64,H,-0.2485,0.6039,-8.7647,loss_of_function,-3.74404995698155,0.5111022034483971,,,0.8572,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F560Y,NP_000240:p.Phe560Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92733,0.79932,0.9470376728380248,Neutral,Neutral,True,0.306,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.64,H,-0.2168,0.6039,-8.7647,loss_of_function,-2.45174779197401,0.6706381591445408,,,0.4808,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y561A,NP_000240:p.Tyr561Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.03502,2.65714,3.006136301257885,Uncertain,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4341,0.1843,-22.0526,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.8467,pathogenic,0.122247033,stabilizing,-0.891706535,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561C,NP_000240:p.Tyr561Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.75871,3.21633,3.397571439290924,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,483536,Uncertain significance,2,95.16,H,-0.4048,0.1843,-22.0526,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.2939,benign,0.125697728,stabilizing,-0.817242493,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561D,NP_000240:p.Tyr561Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.7716,4.19796,3.8693417813077904,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4483,0.1843,-22.0526,loss_of_function,-5.55480025420244,0.28756332297880866,,,0.8319,pathogenic,-0.407735213,destabilizing,-1.088260455,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561E,NP_000240:p.Tyr561Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.12995,3.71667,3.518150686573843,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4092,0.1843,-8.7647,loss_of_function,-4.49804888670524,0.41802030425755543,,,0.8998,pathogenic,0.121044366,stabilizing,-0.944083501,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561F,NP_000240:p.Tyr561Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72017,-0.18946,0.3600479892914071,Neutral,Neutral,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,-,-,uncertain,neutral,,,,95.16,H,-0.192,0.1843,-6.4429,loss_of_function,-0.689816603188133,0.8881502733273392,,,0.1916,benign,0.012519984,neutral,-0.064438535,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y561G,NP_000240:p.Tyr561Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46782,4.42721,4.257653294160357,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.5047,0.1843,-22.0526,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.7125,pathogenic,0.101620206,neutral,-0.919537243,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561H,NP_000240:p.Tyr561His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76282,2.02483,2.035968790416983,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.2741,0.1843,-8.7647,loss_of_function,-1.28553067231809,0.8146087936999861,,,0.2827,benign,0.154669752,stabilizing,-0.448935324,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y561I,NP_000240:p.Tyr561Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.46802,1.9534,2.157698867372061,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4462,0.1843,-22.0526,loss_of_function,-4.7705993479894,0.38437368546067396,,,0.8615,pathogenic,-0.222391952,destabilizing,-0.961040775,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561K,NP_000240:p.Tyr561Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.11991,2.82721,3.0361657489137786,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.5023,0.1843,-22.0526,loss_of_function,-4.69100726574284,0.394199405211733,,,0.7806,pathogenic,-0.031138808,neutral,-0.115926856,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y561L,NP_000240:p.Tyr561Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93546,1.42415,1.451992858377817,Neutral,Neutral,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4233,0.1843,-22.0526,loss_of_function,-5.46574539185426,0.29855723211152485,,,0.711,pathogenic,0.127236375,stabilizing,-0.937087323,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561M,NP_000240:p.Tyr561Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78639,1.9085,2.0672301077887543,Neutral,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.3754,0.1843,-22.0526,loss_of_function,-5.46574539185426,0.29855723211152485,,,0.8842,pathogenic,0.067602181,neutral,-1.020814559,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561N,NP_000240:p.Tyr561Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2432,3.31803,3.143188626204323,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4273,0.1843,-22.0526,loss_of_function,-5.55480025420244,0.28756332297880866,,,0.4952,ambiguous,0.226338394,stabilizing,-0.685905652,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561P,NP_000240:p.Tyr561Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.70422,12.78231,8.540354343730291,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.5583,0.1843,-22.0526,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.9828,pathogenic,-1.640893166,destabilizing,-1.065926761,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561Q,NP_000240:p.Tyr561Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73736,3.58401,3.0461627247806216,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4519,0.1843,-22.0526,loss_of_function,-5.55480025420244,0.28756332297880866,,,0.6811,pathogenic,0.181533276,stabilizing,-0.79023153,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561R,NP_000240:p.Tyr561Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97485,3.46905,2.478184508838675,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4299,0.1843,-8.7647,loss_of_function,-4.15645244480874,0.4601907163299072,,,0.4933,ambiguous,-0.070814569,neutral,0.090958626,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y561S,NP_000240:p.Tyr561Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.87601,3.7466,3.612383237928984,Destabilizing,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4389,0.1843,-22.0526,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.4527,ambiguous,0.136573364,stabilizing,-0.96403591,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561T,NP_000240:p.Tyr561Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.76929,2.45578,3.126093528249375,Uncertain,Destabilizing,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.3897,0.1843,-8.7647,loss_of_function,-5.89488667428254,0.24557932456428738,,,0.8038,pathogenic,0.131916591,stabilizing,-0.983389146,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561V,NP_000240:p.Tyr561Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28883,1.72585,2.415111838113292,Uncertain,Uncertain,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,DOWN,-,neutral,neutral,,,,95.16,H,-0.4357,0.1843,-22.0526,loss_of_function,-5.10391263522146,0.3432258368656206,,,0.768,pathogenic,-0.211881387,destabilizing,-0.969441572,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y561W,NP_000240:p.Tyr561Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22039,0.68707,0.4491626901914552,Neutral,Neutral,True,0.416,,,,,,,,,,13.1,,True,13.1,,uncertain,,,UP,-,neutral,neutral,,,,95.16,H,-0.3517,0.1843,-22.0526,loss_of_function,-3.71191424764031,0.515069387935547,,,0.5354,ambiguous,0.121002267,stabilizing,-0.496745391,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q562A,NP_000240:p.Gln562Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.50414,2.71224,1.3728982284787583,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.2664,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.824,pathogenic,0.160836458,stabilizing,-1.101268157,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562C,NP_000240:p.Gln562Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.98912,2.55578,1.9132542803976311,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.3126,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.9755,pathogenic,0.012123888,neutral,-1.019634503,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562D,NP_000240:p.Gln562Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.78381,3.22755,2.5912446587171787,Destabilizing,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.3529,0.354,-22.0559,loss_of_function,-3.51190542980002,0.5397606704899026,,,0.9688,pathogenic,0.177395075,stabilizing,-1.052952524,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562E,NP_000240:p.Gln562Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.72274,2.90544,1.8975799913261768,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.1803,0.354,-4.1832,loss_of_function,-1.63072382935163,0.7719943636554512,,,0.1322,benign,0.151178629,stabilizing,-0.85516532,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562F,NP_000240:p.Gln562Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24317,0.4966,0.7808781137061823,Neutral,Neutral,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.3206,0.354,-22.0559,loss_of_function,-5.17300468522441,0.33469635627919586,,,0.994,pathogenic,-0.157905585,destabilizing,-1.130227102,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562G,NP_000240:p.Gln562Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.92233,4.96905,2.9792014352897693,Destabilizing,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.337,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.8125,pathogenic,0.194252731,stabilizing,-1.106370316,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562H,NP_000240:p.Gln562His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.74583,1.87619,1.4122601089692055,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2674,0.354,-22.0559,loss_of_function,-4.14726478625831,0.4613249416892249,,,0.876,pathogenic,0.27675986,stabilizing,-1.02265283,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562I,NP_000240:p.Gln562Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41766,1.07925,0.4171321133862121,Neutral,Neutral,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.302,0.354,-22.0559,loss_of_function,-5.25726101060409,0.324294831189424,,,0.9629,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q562K,NP_000240:p.Gln562Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.77205,4.03878,1.9558922035268904,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2995,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.7098,pathogenic,0.031909641,neutral,-1.006902132,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562L,NP_000240:p.Gln562Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42789,1.61088,-0.0124253577620847,Neutral,Neutral,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2853,0.354,-22.0559,loss_of_function,-4.4550017453325,0.4233345156121785,,,0.8705,pathogenic,0.237466354,stabilizing,-0.992745215,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562M,NP_000240:p.Gln562Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94059,3.44422,0.6155461284883087,Uncertain,Neutral,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2563,0.354,-22.0559,loss_of_function,-5.25726101060409,0.324294831189424,,,0.8888,pathogenic,0.390079887,stabilizing,-0.970915283,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562N,NP_000240:p.Gln562Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.39799,2.78061,1.724395591575147,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.282,0.354,-22.0559,loss_of_function,-3.51190542980002,0.5397606704899026,,,0.8514,pathogenic,0.186005828,stabilizing,-1.047210562,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562P,NP_000240:p.Gln562Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.83516,13.06224,7.507412530653233,Destabilizing,Destabilizing,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,547537,Conflicting classifications of pathogenicity,1,93.36,H,-0.44,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.9718,pathogenic,-1.570835825,destabilizing,-1.020568888,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562R,NP_000240:p.Gln562Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.00833,4.93163,1.3532105629501197,Destabilizing,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2303,0.354,-8.768,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.7017,pathogenic,0.055908911,neutral,-0.955697312,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562S,NP_000240:p.Gln562Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99234,3.81701,2.3678479950296487,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.2848,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.7486,pathogenic,0.158585103,stabilizing,-0.991154131,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562T,NP_000240:p.Gln562Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.28567,2.91054,1.6704705520248024,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.2947,0.354,-22.0559,loss_of_function,-5.5790225777092,0.2845730536482534,,,0.8363,pathogenic,0.05884832,neutral,-1.0799641,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562V,NP_000240:p.Gln562Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34915,1.80714,0.7968500113281229,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.36,H,-0.302,0.354,-22.0559,loss_of_function,-5.25726101060409,0.324294831189424,,,0.9159,pathogenic,-0.285941317,destabilizing,-1.003829733,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562W,NP_000240:p.Gln562Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.32913,3.73741,0.5306755932205822,Destabilizing,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.2522,0.354,-8.768,loss_of_function,-5.17300468522441,0.33469635627919586,,,0.9941,pathogenic,0.692162046,stabilizing,-1.028452346,damaging,https://doi.org/10.1101/2022.10.22.513328 +Q562Y,NP_000240:p.Gln562Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47464,0.39286,1.0291343726205628,Uncertain,Uncertain,True,0.5,,,,,,,,,,1.3,,True,1.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.3229,0.354,-22.0559,loss_of_function,-5.17300468522441,0.33469635627919586,,,0.9872,pathogenic,0.058288369,neutral,-1.097929031,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563A,NP_000240:p.Ile563Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10303,3.25442,2.18738871807958,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.2463,1.946,-22.0526,loss_of_function,-4.21286105743956,0.45322701838895474,,,0.6543,pathogenic,0.227438843,stabilizing,-0.520922438,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563C,NP_000240:p.Ile563Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.38875,2.96905,2.4795161339764604,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.2263,1.946,-22.0526,loss_of_function,-4.21286105743956,0.45322701838895474,,,0.7575,pathogenic,0.238470738,stabilizing,-0.336550782,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563D,NP_000240:p.Ile563Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.92958,4.90578,3.03808154782791,Destabilizing,Destabilizing,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.3703,1.946,-22.0526,loss_of_function,-4.18811942472921,0.4562813969443799,,,0.9298,pathogenic,-0.094767772,destabilizing,-1.020490772,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563E,NP_000240:p.Ile563Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.15408,3.84694,2.5500440877934,Destabilizing,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.3512,1.946,-22.0526,loss_of_function,-3.6847721330926,0.5184201083020628,,,0.8481,pathogenic,0.3414981,stabilizing,-0.951618441,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563F,NP_000240:p.Ile563Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39589,1.83776,0.3014748572410519,Neutral,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.51,H,-0.1292,1.946,-6.7648,loss_of_function,-2.87477104151859,0.6184155286907808,,,0.3206,benign,0.321097437,stabilizing,-0.914135979,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563G,NP_000240:p.Ile563Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.48004,5.06565,3.6102863031859664,Destabilizing,Destabilizing,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.3369,1.946,-22.0526,loss_of_function,-5.25907648162088,0.3240707095315448,,,0.844,pathogenic,0.166303282,stabilizing,-1.032671498,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563H,NP_000240:p.Ile563His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.84729,3.88537,1.479485088724485,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.264,1.946,-7.7648,loss_of_function,-3.35163242577451,0.5595465282883786,,,0.7314,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I563K,NP_000240:p.Ile563Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77917,2.53197,2.1765895956822443,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.51,H,-0.2708,1.946,-7.7648,loss_of_function,-3.39586922370398,0.5540854526779588,,,0.6766,pathogenic,-0.005696296,neutral,-0.220683462,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563L,NP_000240:p.Ile563Leu,"hg19,3:g.37083778A>C",,,0.395,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03136,0.67245,0.3232874678039371,Neutral,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,-,-,uncertain,neutral,"1778036, 483590","Uncertain significance, Uncertain significance","1, 2",92.51,H,-0.0283,1.946,-1.8341,loss_of_function,-1.07517733798524,0.8405771168486715,,,0.1341,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +I563M,NP_000240:p.Ile563Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11698,1.21803,0.8311071772309849,Neutral,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.51,H,-0.0693,1.946,-8.7647,loss_of_function,-3.33539884714959,0.5615505793148503,,,0.1288,benign,0.020412105,neutral,-0.502348286,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563N,NP_000240:p.Ile563Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12301,3.5119,2.342125994140934,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.2156,1.946,-8.7647,loss_of_function,-4.18811942472921,0.4562813969443799,,,0.5102,ambiguous,0.199515565,stabilizing,-0.856858524,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563P,NP_000240:p.Ile563Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.94985,11.85782,7.800034898539692,Destabilizing,Destabilizing,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.3903,1.946,-22.0526,loss_of_function,-5.25907648162088,0.3240707095315448,,,0.9857,pathogenic,-1.628542295,destabilizing,-0.954680436,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563Q,NP_000240:p.Ile563Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20211,2.68776,2.1281272988546927,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.2243,1.946,-5.0644,loss_of_function,-2.73438203304106,0.6357466879530312,,,0.692,pathogenic,0.288296124,stabilizing,-0.885134885,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563R,NP_000240:p.Ile563Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98548,3.32347,1.513559104231026,Uncertain,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.51,H,-0.2909,1.946,-6.4429,loss_of_function,-2.43758016810442,0.6723871660526624,,,0.578,pathogenic,-0.007253153,neutral,0.044821482,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563S,NP_000240:p.Ile563Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41435,4.05952,2.9384676150834497,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.2109,1.946,-7.1799,loss_of_function,-2.17935419950971,0.7042654123334608,,,0.5462,ambiguous,0.233961437,stabilizing,-0.716287712,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563T,NP_000240:p.Ile563Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.38945,2.6398,1.9592954195578256,Uncertain,Uncertain,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.51,H,-0.115,1.946,-4.6774,loss_of_function,-2.31684096540163,0.6872925377333386,,,0.4653,ambiguous,0.112432471,stabilizing,-0.215011628,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563V,NP_000240:p.Ile563Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19431,1.38401,0.6412373624069206,Neutral,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,233000,Uncertain significance,2,92.51,H,0.0024,1.946,-3.6356,gain_of_function,-0.142392407000262,0.9557303213028184,,,0.0982,benign,-0.014402727,neutral,-0.016907849,neutral,https://doi.org/10.1101/2022.10.22.513328 +I563W,NP_000240:p.Ile563Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00784,2.49014,0.2914195647629752,Uncertain,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.51,H,-0.2962,1.946,-22.0526,loss_of_function,-4.61858941215366,0.4031394594766316,,,0.8859,pathogenic,0.097260163,neutral,-0.995816202,damaging,https://doi.org/10.1101/2022.10.22.513328 +I563Y,NP_000240:p.Ile563Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69654,3.23231,0.7231750284353891,Uncertain,Neutral,True,0.621,,,,,,,,,,10.0,,True,10.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.51,H,-0.2372,1.946,-8.7647,loss_of_function,-4.61858941215366,0.4031394594766316,,,0.6804,pathogenic,0.331913319,stabilizing,-0.989064974,damaging,https://doi.org/10.1101/2022.10.22.513328 +L564A,NP_000240:p.Leu564Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.14477,2.87313,2.8097927290976203,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.1183,2.2682,-4.121,loss_of_function,-1.60558713630718,0.7750975127922968,,,0.5182,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564C,NP_000240:p.Leu564Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.20473,2.58333,2.980924334957072,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.1194,2.2682,-6.4429,loss_of_function,-2.09637560795683,0.7145091999430184,,,0.6538,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564D,NP_000240:p.Leu564Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.11347,3.79694,4.025802204724573,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.3314,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564E,NP_000240:p.Leu564Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.50203,3.77381,3.3412031713394,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.2994,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.9403,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564F,NP_000240:p.Leu564Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6556,-0.01327,0.2031786456530993,Neutral,Neutral,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,186100,Uncertain significance,2,93.08,H,-0.0637,2.2682,-6.4429,loss_of_function,-2.69534211906805,0.6405662031984793,,,0.4153,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564G,NP_000240:p.Leu564Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.82584,4.86463,4.784854441421471,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.1815,2.2682,-1.8341,loss_of_function,-2.5711398621611,0.6558990922795346,,,0.8314,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564H,NP_000240:p.Leu564His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.26401,2.13265,1.989885748552097,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.2522,2.2682,-22.0526,loss_of_function,-4.25524708272731,0.44799442245625143,,,0.8635,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564I,NP_000240:p.Leu564Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1894,0.7017,1.0367500871420516,Neutral,Neutral,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.08,H,0.0091,2.2682,-3.8107,gain_of_function,-1.00322903383129,0.8494592047803668,,,0.1441,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564K,NP_000240:p.Leu564Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53885,5.14422,3.707630179008763,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.08,H,-0.2984,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.9619,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564M,NP_000240:p.Leu564Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15092,1.67619,0.9821899430931956,Neutral,Neutral,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.08,H,-0.019,2.2682,-4.7649,loss_of_function,-1.00220010135466,0.849586227492586,,,0.1331,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564N,NP_000240:p.Leu564Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.38999,2.88503,2.870246736049783,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.2777,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.8863,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564P,NP_000240:p.Leu564Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.85683,11.05476,9.259529677551974,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1479112,Uncertain significance,2,93.08,H,-0.2933,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.9836,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564Q,NP_000240:p.Leu564Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.14976,3.32585,2.5935403215389585,Destabilizing,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.2306,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.72,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564R,NP_000240:p.Leu564Arg,"hg19,3:g.37083782T>G",,,0.840,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75842,3.47211,2.8059165826599406,Destabilizing,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1778147,Likely pathogenic,2,93.08,H,-0.29,2.2682,-22.0526,loss_of_function,-4.89953367888435,0.36845661725608053,,,0.9157,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564S,NP_000240:p.Leu564Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.72885,3.85612,3.8399181160973472,Destabilizing,Destabilizing,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.1606,2.2682,-6.4429,loss_of_function,-2.3627969979425,0.6816192209426266,,,0.6017,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564T,NP_000240:p.Leu564Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.67156,3.07483,2.875849905626784,Destabilizing,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.132,2.2682,-6.1799,loss_of_function,-2.62544524241823,0.6491950404150751,,,0.4655,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564V,NP_000240:p.Leu564Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12373,1.35918,1.4205458911202933,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0294,2.2682,-4.2413,loss_of_function,-0.709078121042163,0.8857724202661837,,,0.1493,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564W,NP_000240:p.Leu564Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.00041,0.84354,0.9655929223085502,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.1747,2.2682,-8.7647,loss_of_function,-4.25524708272731,0.44799442245625143,,,0.8925,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L564Y,NP_000240:p.Leu564Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.50279,0.2619,0.8643013364941401,Uncertain,Uncertain,True,0.596,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.2354,2.2682,-22.0526,loss_of_function,-4.25524708272731,0.44799442245625143,,,0.9136,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +I565A,NP_000240:p.Ile565Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12477,3.15918,3.6005552209811613,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.2223,1.4693,-8.7647,loss_of_function,-3.68507558880931,0.518382646399508,,,0.4422,ambiguous,0.030734965,neutral,-0.571736143,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565C,NP_000240:p.Ile565Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89482,2.82789,3.3793018516344686,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.1972,1.4693,-7.7648,loss_of_function,-2.6621408677645,0.6446649298743637,,,0.622,pathogenic,-0.011341147,neutral,-0.14985245,neutral,https://doi.org/10.1101/2022.10.22.513328 +I565D,NP_000240:p.Ile565Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.31595,4.13912,4.888861633359847,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.4142,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.9404,pathogenic,0.476528911,stabilizing,-1.019453199,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565E,NP_000240:p.Ile565Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74394,3.26327,4.551104691340382,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3951,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.882,pathogenic,0.422925918,stabilizing,-0.961860431,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565F,NP_000240:p.Ile565Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.92593,2.05068,2.4285818908819725,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89842,Uncertain significance,2,93.13,H,-0.2511,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.3155,benign,-0.057599241,neutral,-0.958820355,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565G,NP_000240:p.Ile565Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.84236,5.02279,5.846002089501448,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3808,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.7403,pathogenic,0.257139831,stabilizing,-1.059684447,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565H,NP_000240:p.Ile565His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.67429,3.50442,3.6128563786108856,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3807,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.7952,pathogenic,0.478447583,stabilizing,-1.00218112,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565K,NP_000240:p.Ile565Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.56684,5.27687,6.145563921785518,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.13,H,-0.3876,1.4693,-22.0526,loss_of_function,-3.9609673833166,0.484323536775415,,,0.7414,pathogenic,0.503092153,stabilizing,-1.064027125,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565L,NP_000240:p.Ile565Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27442,0.08946,1.073856881501794,Neutral,Neutral,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.13,H,-0.0677,1.4693,-0.9511,loss_of_function,-0.269090968975315,0.9400892609398969,,,0.0888,benign,-0.00463995,neutral,-0.017333979,neutral,https://doi.org/10.1101/2022.10.22.513328 +I565M,NP_000240:p.Ile565Met,"hg19,3:g.37083786T>G",,,0.556,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11993,1.35306,2.0681327956339515,Neutral,Uncertain,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.13,H,-0.0979,1.4693,-5.7649,loss_of_function,-0.600119555798385,0.8992234608263032,,,0.1237,benign,0.00718185,neutral,-0.114908478,neutral,https://doi.org/10.1101/2022.10.22.513328 +I565N,NP_000240:p.Ile565Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2437,3.5068,3.499327703359312,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3273,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.5109,ambiguous,0.169304726,stabilizing,-1.022911807,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565P,NP_000240:p.Ile565Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.35046,8.02653,7.671925199033953,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.4342,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.9145,pathogenic,-1.303901438,destabilizing,-1.042944707,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565Q,NP_000240:p.Ile565Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64004,1.67721,3.480231267775632,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3548,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.7332,pathogenic,0.221520166,stabilizing,-0.920411758,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565R,NP_000240:p.Ile565Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.31867,3.84524,5.130504591199065,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,H,-0.3466,1.4693,-8.7647,loss_of_function,-4.13356895996358,0.46301570472912534,,,0.6434,pathogenic,0.327703377,stabilizing,-1.014077988,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565S,NP_000240:p.Ile565Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.03673,4.05306,4.546038359222631,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.3307,1.4693,-22.0526,loss_of_function,-3.68507558880931,0.518382646399508,,,0.4493,ambiguous,0.137087353,stabilizing,-0.794469034,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565T,NP_000240:p.Ile565Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.75779,2.42211,2.9762804517003763,Uncertain,Uncertain,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.13,H,-0.1695,1.4693,-6.7648,loss_of_function,-1.43177214200599,0.7965551424249133,,,0.2294,benign,0.100766652,neutral,-0.505847613,neutral,https://doi.org/10.1101/2022.10.22.513328 +I565V,NP_000240:p.Ile565Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13146,0.53503,0.8409330217815738,Neutral,Neutral,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,844958,Uncertain significance,1,93.13,H,-0.0456,1.4693,-4.4429,loss_of_function,-0.119079828656806,0.9586082817105863,,,0.0741,benign,0.020234434,neutral,-0.040702599,neutral,https://doi.org/10.1101/2022.10.22.513328 +I565W,NP_000240:p.Ile565Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.08439,5.55442,4.567658969453863,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,H,-0.34,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.9201,pathogenic,0.325871718,stabilizing,-1.012553023,damaging,https://doi.org/10.1101/2022.10.22.513328 +I565Y,NP_000240:p.Ile565Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.97368,4.39762,4.075895258946372,Destabilizing,Destabilizing,True,0.598,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.13,H,-0.3489,1.4693,-22.0526,loss_of_function,-4.38677712025581,0.4317569117501261,,,0.7678,pathogenic,0.450049125,stabilizing,-1.128571896,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y566A,NP_000240:p.Tyr566Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13678,2.30884,2.2970658958947903,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1486,2.4621,-7.1765,loss_of_function,-2.37508395421,0.6801023842740748,,,0.389,ambiguous,-0.086184658,destabilizing,0.181312721,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566C,NP_000240:p.Tyr566Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1551,2.3068,2.688668553945508,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,628441,Uncertain significance,1,90.15,H,-0.1193,2.4621,-7.1765,loss_of_function,-0.974699364348455,0.8529812201494371,,,0.0883,benign,-0.041605341,neutral,0.000611632,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566D,NP_000240:p.Tyr566Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09628,2.58265,2.2632159565326617,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1658,2.4621,-7.7615,loss_of_function,-2.34178423356354,0.6842132670858485,,,0.2271,benign,-0.057414566,neutral,-0.125786225,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566E,NP_000240:p.Tyr566Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34233,2.27721,2.128283651246506,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1916,2.4621,-7.1765,loss_of_function,-2.69522670188219,0.6405804515620189,,,0.4973,ambiguous,-0.016144402,neutral,-0.088504692,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566F,NP_000240:p.Tyr566Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16459,-0.45748,0.0156854523267585,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,-,-,uncertain,neutral,,,,90.15,H,0.0291,2.4621,-4.1766,gain_of_function,-0.30457399448606,0.9357088470250023,,,0.1095,benign,-0.059184081,neutral,0.030384003,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566G,NP_000240:p.Tyr566Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88329,3.25204,3.137397649878104,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.2951,2.4621,-22.0493,loss_of_function,-3.91478252835587,0.49002510191579757,,,0.2712,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y566H,NP_000240:p.Tyr566His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42502,1.08469,1.079219728724223,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,182527,Uncertain significance,2,90.15,H,-0.0501,2.4621,-5.9542,loss_of_function,-1.67231535795141,0.7668598491094737,,,0.1252,benign,-0.072464746,neutral,0.042783005,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566I,NP_000240:p.Tyr566Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25406,0.83231,0.7957390661524946,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.2366,2.4621,-22.0493,loss_of_function,-2.73809055904664,0.6352888668206796,,,0.517,ambiguous,-0.145827191,destabilizing,-0.105851788,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566K,NP_000240:p.Tyr566Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48971,2.01599,1.750879212376182,Uncertain,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.2147,2.4621,-6.7615,loss_of_function,-1.75142622228766,0.7570935361761839,,,0.4024,ambiguous,-0.200429043,destabilizing,-0.028589571,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566L,NP_000240:p.Tyr566Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3944,0.45442,0.4972027746565222,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1315,2.4621,-5.9542,loss_of_function,-2.45764568445719,0.6699100585970256,,,0.4222,ambiguous,-0.228987867,destabilizing,-0.083315253,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566M,NP_000240:p.Tyr566Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.86312,0.75,1.1565212177606987,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.0899,2.4621,-7.1765,loss_of_function,-3.40301002663813,0.5532039136297512,,,0.5745,pathogenic,-0.196855671,destabilizing,0.055864193,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566N,NP_000240:p.Tyr566Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83882,1.92687,1.8342971525785103,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1381,2.4621,-6.4396,loss_of_function,-2.68235604516651,0.6421693466170395,,,0.1462,benign,-0.126008591,destabilizing,-0.112090289,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566P,NP_000240:p.Tyr566Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07163,9.33537,5.274864019148044,Destabilizing,Destabilizing,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.3487,2.4621,-22.0493,loss_of_function,-4.54065978463279,0.412759947579361,,,0.9395,pathogenic,-0.277845456,destabilizing,-1.128297685,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y566Q,NP_000240:p.Tyr566Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65239,1.67959,1.909882868332899,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1591,2.4621,-5.7615,loss_of_function,-1.6895921590975,0.7647270112509241,,,0.3185,benign,-0.116778556,destabilizing,0.000509086,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566R,NP_000240:p.Tyr566Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26981,1.34218,1.1443000027751842,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.188,2.4621,-2.4396,loss_of_function,-1.82177166172704,0.748409323448148,,,0.2137,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y566S,NP_000240:p.Tyr566Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16761,2.58061,2.472398009802592,Uncertain,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.141,2.4621,-4.7615,loss_of_function,-2.31910865086477,0.687012589763447,,,0.1448,benign,-0.103812328,destabilizing,-0.18543679,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566T,NP_000240:p.Tyr566Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18897,1.98061,2.0840335651535,Neutral,Uncertain,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.1489,2.4621,-2.653,loss_of_function,-2.40068122027059,0.676942376951669,,,0.3252,benign,-0.073030039,neutral,0.042425098,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566V,NP_000240:p.Tyr566Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13644,1.34456,1.1143407517467423,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,90.15,H,-0.2261,2.4621,-22.0493,loss_of_function,-3.71947468880428,0.5141360441408539,,,0.3927,ambiguous,-0.082652359,destabilizing,0.033591586,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y566W,NP_000240:p.Tyr566Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92861,-0.09218,-0.1194047868289349,Neutral,Neutral,True,0.506,,,,,,,Uncertain,Uncertain,Uncertain,33.1,,True,33.1,,uncertain,,,UP,-,neutral,neutral,,,,90.15,H,-0.1421,2.4621,-22.0493,loss_of_function,-2.89509166542924,0.6159069279596906,,,0.3309,benign,0.004283122,neutral,0.054056124,neutral,https://doi.org/10.1101/2022.10.22.513328 +D567A,NP_000240:p.Asp567Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07164,0.02789,0.4685033206170202,Neutral,Neutral,True,0.323,0.10372,,,-0.11193,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.11,S,-0.1251,1.6827,-8.7647,loss_of_function,-4.20336005490138,0.4543999263674778,,,0.8107,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567C,NP_000240:p.Asp567Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16567,0.1,0.9983825546691932,Neutral,Neutral,True,0.323,0.1341,,,-0.02278,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.11,S,-0.2344,1.6827,-22.0526,loss_of_function,-4.20336005490138,0.4543999263674778,,,0.9463,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567E,NP_000240:p.Asp567Glu,,,,,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1409,-0.10476,0.4376904216646088,Neutral,Neutral,True,0.323,0.00326,,,0.02188,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,405433,Uncertain significance,1,89.11,S,-0.0476,1.6827,-4.3726,loss_of_function,-1.4992147707112,0.7882292844974965,,,0.6914,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567F,NP_000240:p.Asp567Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.94102,-0.94048,-0.2532964844903446,Neutral,Neutral,True,0.323,0.11036,,,-0.04726,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.293,1.6827,-22.0526,loss_of_function,-4.75232598935901,0.38662954930723853,,,0.9705,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567G,NP_000240:p.Asp567Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45763,1.01497,1.3505316126989302,Neutral,Neutral,True,0.323,0.0961,,,-0.02352,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.11,S,-0.1209,1.6827,-5.7649,loss_of_function,-2.60197709194752,0.6520922063528447,,,0.6581,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567H,NP_000240:p.Asp567His,"hg19,3:g.37083790G>C",,,0.884,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71591,-1.0517,0.0508732423249169,Neutral,Neutral,True,0.323,0.10814,,,-0.00481,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.1263,1.6827,-7.1799,loss_of_function,-3.6260941032335,0.525663968000993,,,0.7669,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567I,NP_000240:p.Asp567Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48329,0.07007,-0.0901861351326266,Neutral,Neutral,True,0.323,0.06662,,,0.03397,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.2853,1.6827,-22.0526,loss_of_function,-4.59110786290966,0.40653208338562774,,,0.9598,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567K,NP_000240:p.Asp567Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16912,0.00306,0.3024520588034302,Neutral,Neutral,True,0.323,0.19044,,,0.0574,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.184,1.6827,-6.4429,loss_of_function,-1.88240983484052,0.7409234821632882,,,0.9265,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567L,NP_000240:p.Asp567Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.47859,-1.07245,-0.4217770366459361,Neutral,Neutral,True,0.323,0.1345,,,0.13082,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.206,1.6827,-7.7648,loss_of_function,-3.24304005688374,0.5729523615535391,,,0.9419,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567M,NP_000240:p.Asp567Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.77681,-0.73401,-0.0584199839971533,Neutral,Neutral,True,0.323,0.13416,,,-0.00384,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.2177,1.6827,-22.0526,loss_of_function,-4.59110786290966,0.40653208338562774,,,0.9852,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567N,NP_000240:p.Asp567Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74506,-0.43299,0.0006811983569299,Neutral,Neutral,True,0.323,0.1078,,,-0.00088,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.11,S,-0.0735,1.6827,-5.1799,loss_of_function,-1.28373214985329,0.8148308230426833,,,0.2965,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567P,NP_000240:p.Asp567Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91003,4.63197,5.477836173521995,Uncertain,Uncertain,True,0.323,0.1022,,,0.00522,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.11,S,-0.3299,1.6827,-22.0526,loss_of_function,-5.19376261998144,0.3321337690999647,,,0.9923,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567Q,NP_000240:p.Asp567Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85309,-0.23265,0.4290760380509056,Neutral,Neutral,True,0.323,0.1341,,,-0.19295,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.1204,1.6827,-2.5554,loss_of_function,-1.2408577833756,0.8201237051689352,,,0.8639,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567R,NP_000240:p.Asp567Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.34801,-0.71939,-0.0941134154639072,Neutral,Neutral,True,0.323,0.23234,,,-0.01412,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.206,1.6827,-4.6774,loss_of_function,-1.93456131281828,0.7344853316243236,,,0.8627,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567S,NP_000240:p.Asp567Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2459,0.38299,0.8696912795866804,Neutral,Neutral,True,0.323,0.13418,,,0.06681,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.11,S,-0.1993,1.6827,-22.0526,loss_of_function,-3.08930557130711,0.5919310329076799,,,0.4646,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567T,NP_000240:p.Asp567Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56807,-0.02653,0.6897432096745404,Neutral,Neutral,True,0.323,0.09066,,,0.04859,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.11,S,-0.2293,1.6827,-22.0526,loss_of_function,-3.59920028221669,0.5289840362902949,,,0.8777,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567V,NP_000240:p.Asp567Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29277,0.14728,0.1003921059508489,Neutral,Neutral,True,0.323,0.08568,,,0.02972,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.1671,1.6827,-7.7648,loss_of_function,-4.59110786290966,0.40653208338562774,,,0.8862,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567W,NP_000240:p.Asp567Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.28736,-0.45816,-0.6127210234388525,Uncertain,Uncertain,True,0.323,0.10836,,,0.05004,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.11,S,-0.2735,1.6827,-22.0526,loss_of_function,-4.75232598935901,0.38662954930723853,,,0.9913,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D567Y,NP_000240:p.Asp567Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.71201,-1.33231,-0.1859015370932926,Neutral,Neutral,True,0.323,0.1102,,,0.03548,,,Uncertain,Neutral,Uncertain,75.1,,True,75.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1778296,Uncertain significance,1,89.11,S,-0.2379,1.6827,-22.0526,loss_of_function,-4.75232598935901,0.38662954930723853,,,0.725,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F568A,NP_000240:p.Phe568Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99297,2.18503,5.032505017774716,Uncertain,Destabilizing,True,0.272,0.0572,,,0.02381,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4462,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9826,pathogenic,-0.186623157,destabilizing,-0.869442598,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568C,NP_000240:p.Phe568Cys,,,,,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.95853,2.04422,4.909585380240271,Uncertain,Destabilizing,True,0.272,0.10262,,,-0.08442,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4143,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9553,pathogenic,-0.354330058,destabilizing,-0.231677858,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568D,NP_000240:p.Phe568Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.84883,3.93095,6.422995330462777,Destabilizing,Destabilizing,True,0.272,-0.12182,,,0.14924,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5014,0.0235,-8.768,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9974,pathogenic,-0.03998609,neutral,-0.972687653,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568E,NP_000240:p.Phe568Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.11428,4.44388,5.87874382840875,Destabilizing,Destabilizing,True,0.272,-0.60538,,,0.0195,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5385,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9981,pathogenic,-0.045099517,neutral,-1.066401254,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568G,NP_000240:p.Phe568Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.56531,3.95646,7.076313541984847,Destabilizing,Destabilizing,True,0.272,0.04928,,,0.00495,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4816,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9923,pathogenic,0.020250106,neutral,-0.987402829,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568H,NP_000240:p.Phe568His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.97958,2.05068,3.126560530598109,Uncertain,Destabilizing,True,0.272,0.04196,,,-0.06104,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4738,0.0235,-22.0559,loss_of_function,-3.85532584604378,0.4973650870152777,,,0.9847,pathogenic,0.142172825,stabilizing,-0.829285451,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568I,NP_000240:p.Phe568Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.35826,0.26156,3.4682340462757724,Uncertain,Destabilizing,True,0.272,0.10896,,,-0.08307,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.3901,0.0235,-22.0559,loss_of_function,-4.13979365400956,0.4622472602117119,,,0.9223,pathogenic,-0.324558705,destabilizing,-0.235472522,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568K,NP_000240:p.Phe568Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.92542,4.06122,6.060226585130253,Destabilizing,Destabilizing,True,0.272,0.17254,,,-0.04046,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5454,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9974,pathogenic,-0.325085029,destabilizing,-1.056674005,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568L,NP_000240:p.Phe568Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.15251,-0.60238,3.012205267350767,Uncertain,Uncertain,True,0.272,0.08722,,,0.05165,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.3522,0.0235,-22.0559,loss_of_function,-3.67999528651907,0.5190098146447103,,,0.9908,pathogenic,-0.419085619,destabilizing,-0.445084674,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568M,NP_000240:p.Phe568Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70206,0.13469,3.109007340460608,Neutral,Uncertain,True,0.272,0.02512,,,0.03895,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.3832,0.0235,-22.0559,loss_of_function,-4.62161992391302,0.40276533986059343,,,0.951,pathogenic,-0.506652344,destabilizing,-0.337249971,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568N,NP_000240:p.Phe568Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.88327,1.96837,4.926018417249716,Uncertain,Destabilizing,True,0.272,0.11564,,,-0.01392,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4988,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.993,pathogenic,-0.213018877,destabilizing,-0.755583851,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568P,NP_000240:p.Phe568Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.26975,3.26122,9.10809403901935,Destabilizing,Destabilizing,True,0.272,0.04954,,,0.01473,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5695,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9994,pathogenic,0.072069595,neutral,-1.049974389,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568Q,NP_000240:p.Phe568Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.20087,2.99932,4.714181646283044,Uncertain,Destabilizing,True,0.272,0.08846,,,0.07843,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5009,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9963,pathogenic,-0.107541342,destabilizing,-0.889983614,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568R,NP_000240:p.Phe568Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.64016,2.87245,4.900895892387583,Uncertain,Destabilizing,True,0.272,0.26562,,,-0.00362,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.5468,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9912,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +F568S,NP_000240:p.Phe568Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.16201,3.88265,6.198087755198913,Destabilizing,Destabilizing,True,0.272,0.04158,,,-0.09752,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2859736,Uncertain significance,1,90.34,T,-0.4252,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9776,pathogenic,-0.138569454,destabilizing,-0.826398613,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568T,NP_000240:p.Phe568Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.81715,1.53299,4.809895089102551,Uncertain,Destabilizing,True,0.272,0.13252,,,0.02574,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.4715,0.0235,-22.0559,loss_of_function,-6.11217010614624,0.21875547415379834,,,0.9827,pathogenic,-0.279593834,destabilizing,-0.907429737,damaging,https://doi.org/10.1101/2022.10.22.513328 +F568V,NP_000240:p.Phe568Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.97536,0.73639,3.7533595005199065,Uncertain,Destabilizing,True,0.272,0.12504,,,-0.03608,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.34,T,-0.3845,0.0235,-22.0559,loss_of_function,-4.84800952871271,0.3748173235689236,,,0.9051,pathogenic,-0.368246703,destabilizing,-0.390127426,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568W,NP_000240:p.Phe568Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.27163,0.96054,1.434354528727762,Uncertain,Uncertain,True,0.272,-0.00678,,,-0.00812,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.34,T,-0.3697,0.0235,-22.0559,loss_of_function,-2.71830841559118,0.6377309916172953,,,0.9449,pathogenic,-0.176387254,destabilizing,-0.501449409,neutral,https://doi.org/10.1101/2022.10.22.513328 +F568Y,NP_000240:p.Phe568Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.365,1.1915,1.0133411346290582,Neutral,Neutral,True,0.272,0.01152,,,-0.01038,,,,Neutral,,0.9,,True,0.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.34,T,-0.338,0.0235,-22.0559,loss_of_function,-3.85532584604378,0.4973650870152777,,,0.8174,pathogenic,-0.074960302,neutral,-0.848025751,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569C,NP_000240:p.Ala569Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83809,0.94456,1.123128162832256,Neutral,Neutral,True,0.17,0.36218,,,-0.02413,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.107,1.6625,-6.4462,loss_of_function,-1.75573535192605,0.7565615699428261,,,0.6189,pathogenic,-0.191542434,destabilizing,-0.480486131,neutral,https://doi.org/10.1101/2022.10.22.513328 +A569D,NP_000240:p.Ala569Asp,"hg19,3:g.37083797C>A",,,0.766,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71017,2.22721,1.548811160205457,Uncertain,Uncertain,True,0.17,0.39346,,,-0.00584,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2684,1.6625,-22.0559,loss_of_function,-3.29217237417793,0.5668869293292969,,,0.9348,pathogenic,0.267647456,stabilizing,-0.643499658,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569E,NP_000240:p.Ala569Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.67963,2.92823,1.1215334539636408,Uncertain,Neutral,True,0.17,-0.36882,,,0.31385,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2541,1.6625,-22.0559,loss_of_function,-2.91526396502353,0.6134166380093171,,,0.888,pathogenic,0.107004238,neutral,-0.878987371,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569F,NP_000240:p.Ala569Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.9361,4.14184,0.1763875805370413,Uncertain,Neutral,True,0.17,3.19762,,,-0.21841,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2368,1.6625,-22.0559,loss_of_function,-3.97818901047381,0.48219751019930684,,,0.9526,pathogenic,0.020846405,neutral,-1.040218297,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569G,NP_000240:p.Ala569Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16289,-0.90748,1.468256770318913,Neutral,Neutral,True,0.17,0.1544,,,-0.03452,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.35,T,-0.072,1.6625,-0.8613,loss_of_function,-0.431158259024422,0.9200818967914992,,,0.1181,benign,0.027334014,neutral,0.190993359,neutral,https://doi.org/10.1101/2022.10.22.513328 +A569H,NP_000240:p.Ala569His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82068,4.96531,0.483667792641434,Uncertain,Neutral,True,0.17,1.77342,,,0.26135,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.168,1.6625,-7.7681,loss_of_function,-3.97818901047381,0.48219751019930684,,,0.9397,pathogenic,0.030902051,neutral,-0.635527061,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569I,NP_000240:p.Ala569Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.26097,5.89252,0.4792998392587916,Destabilizing,Uncertain,True,0.17,0.78604,,,0.22987,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2263,1.6625,-22.0559,loss_of_function,-4.13317672004701,0.46306412712726613,,,0.9618,pathogenic,-0.283795208,destabilizing,-1.140342414,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569K,NP_000240:p.Ala569Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09624,0.8949,0.57555165328537,Neutral,Neutral,True,0.17,1.93582,,,0.60581,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2587,1.6625,-22.0559,loss_of_function,-3.1623705673435,0.5829110882799988,,,0.9707,pathogenic,-0.148848152,destabilizing,-0.719319554,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569L,NP_000240:p.Ala569Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27387,4.09388,-0.3477188319507596,Uncertain,Neutral,True,0.17,1.00234,,,0.32483,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2311,1.6625,-22.0559,loss_of_function,-4.13317672004701,0.46306412712726613,,,0.8392,pathogenic,-0.161625333,destabilizing,-0.809330705,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569M,NP_000240:p.Ala569Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01278,1.42245,0.0214791219883009,Neutral,Neutral,True,0.17,0.81466,,,0.28499,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.1898,1.6625,-22.0559,loss_of_function,-4.13317672004701,0.46306412712726613,,,0.8737,pathogenic,-0.19308932,destabilizing,-0.256540452,neutral,https://doi.org/10.1101/2022.10.22.513328 +A569N,NP_000240:p.Ala569Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43308,2.25068,0.77269760418289,Uncertain,Neutral,True,0.17,2.0983,,,0.21408,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.1578,1.6625,-6.1832,loss_of_function,-2.49224432285052,0.6656388231295581,,,0.828,pathogenic,-0.116883422,destabilizing,-0.539128123,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569P,NP_000240:p.Ala569Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.2795,18.45952,6.825037186960426,Destabilizing,Destabilizing,True,0.17,-0.02426,,,0.08773,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1778436,Uncertain significance,1,88.35,T,-0.2403,1.6625,-8.768,loss_of_function,-3.71683158579654,0.5144623377707501,,,0.9663,pathogenic,0.074147153,neutral,-0.62021565,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569Q,NP_000240:p.Ala569Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02909,3.0602,0.8036465027842865,Uncertain,Neutral,True,0.17,0.4459,,,0.25224,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.146,1.6625,-4.3759,loss_of_function,-1.88033069655812,0.7411801538008421,,,0.8027,pathogenic,-0.103181692,destabilizing,-0.311187795,neutral,https://doi.org/10.1101/2022.10.22.513328 +A569R,NP_000240:p.Ala569Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11293,-0.1551,0.1228318620933999,Neutral,Neutral,True,0.17,1.56814,,,0.60533,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2016,1.6625,-8.768,loss_of_function,-3.31981245473219,0.5634747345762867,,,0.9097,pathogenic,-0.118611994,destabilizing,-0.608879509,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569S,NP_000240:p.Ala569Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45571,0.46701,1.2179663380494543,Neutral,Neutral,True,0.17,0.05178,,,0.17504,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.35,T,-0.0608,1.6625,-4.3088,loss_of_function,-1.2500426726401,0.8189898216806516,,,0.1357,benign,-0.024531294,neutral,-0.274749139,neutral,https://doi.org/10.1101/2022.10.22.513328 +A569T,NP_000240:p.Ala569Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71743,1.67483,0.9892612786226852,Uncertain,Uncertain,True,0.17,0.51694,,,0.34026,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.1574,1.6625,-22.0559,loss_of_function,-2.39850552793954,0.6772109682801782,,,0.5344,ambiguous,0.090161018,neutral,-0.661611716,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569V,NP_000240:p.Ala569Val,"hg19,3:g.37083797C>T, hg38,3:g.37042306C>T",,,0.681,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.49046,5.2585,0.4568958228026876,Destabilizing,Uncertain,True,0.17,0.48448,,,0.31668,,,,Neutral,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,632895,Conflicting classifications of pathogenicity,1,88.35,T,-0.1544,1.6625,-22.0559,loss_of_function,-4.13317672004701,0.46306412712726613,,,0.8199,pathogenic,-0.149323353,destabilizing,-1.023478596,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569W,NP_000240:p.Ala569Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.03106,4.67041,-0.2762200844325613,Destabilizing,Uncertain,True,0.17,3.28882,,,0.4253,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.2477,1.6625,-22.0559,loss_of_function,-3.97818901047381,0.48219751019930684,,,0.9891,pathogenic,0.069725569,neutral,-0.582631623,damaging,https://doi.org/10.1101/2022.10.22.513328 +A569Y,NP_000240:p.Ala569Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66295,7.10952,0.3031170622083168,Uncertain,Neutral,True,0.17,6.11218,,,0.05848,,,,Uncertain,,16.3,,True,16.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.35,T,-0.256,1.6625,-22.0559,loss_of_function,-3.81073971969689,0.5028692875576474,,,0.9629,pathogenic,-0.174618909,destabilizing,-0.800200423,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570A,NP_000240:p.Asn570Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05065,0.51361,0.9542891175838686,Neutral,Neutral,False,0.086,0.11108,,,0.09335,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.1,-,-0.1451,1.0666,-5.4462,loss_of_function,-2.78970152975734,0.6289174424280809,,,0.8698,pathogenic,0.064146193,neutral,-0.818429345,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570C,NP_000240:p.Asn570Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00192,0.63435,1.259085570890989,Neutral,Neutral,False,0.086,0.08602,,,0.2943,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.1,-,-0.2119,1.0666,-8.768,loss_of_function,-2.94508660200917,0.6097350045479545,,,0.7816,pathogenic,0.160270991,stabilizing,-0.319550728,neutral,https://doi.org/10.1101/2022.10.22.513328 +N570D,NP_000240:p.Asn570Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64082,0.63537,1.0657425970749477,Neutral,Neutral,False,0.086,-0.43784,,,0.12454,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,-,-,uncertain,neutral,1778493,Uncertain significance,1,88.1,-,-0.1432,1.0666,-4.4463,loss_of_function,-1.17405397162039,0.8283707005242749,,,0.7869,pathogenic,0.087123113,neutral,-0.45663312,neutral,https://doi.org/10.1101/2022.10.22.513328 +N570E,NP_000240:p.Asn570Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71358,0.79286,1.030559817279304,Neutral,Neutral,False,0.086,-0.02378,,,0.19789,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.1843,1.0666,-7.1832,loss_of_function,-1.95986107591419,0.7313620513314608,,,0.9767,pathogenic,0.04846562,neutral,-0.490890087,neutral,https://doi.org/10.1101/2022.10.22.513328 +N570F,NP_000240:p.Asn570Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04229,-0.03401,0.276914874174225,Neutral,Neutral,False,0.086,-0.08904,,,0.23531,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2192,1.0666,-8.768,loss_of_function,-5.02262569096743,0.3532607889753775,,,0.985,pathogenic,0.290480019,stabilizing,-0.966317313,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570G,NP_000240:p.Asn570Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06557,1.30102,1.2509809098885545,Neutral,Neutral,False,0.086,0.15376,,,0.32707,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.1,-,-0.1928,1.0666,-8.768,loss_of_function,-3.62088476951769,0.5263070653008316,,,0.8404,pathogenic,0.025445312,neutral,-0.591187051,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570H,NP_000240:p.Asn570His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10314,-0.26429,0.3667761181419199,Neutral,Neutral,False,0.086,0.01628,,,-0.10065,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.1538,1.0666,-6.1832,loss_of_function,-5.02262569096743,0.3532607889753775,,,0.7537,pathogenic,0.115623379,stabilizing,-0.74555896,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570I,NP_000240:p.Asn570Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87415,0.93095,0.9526084163629652,Neutral,Neutral,False,0.086,-0.05212,,,0.08109,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2801,1.0666,-22.0559,loss_of_function,-5.08727484065419,0.3452797887422315,,,0.9479,pathogenic,0.1239571,stabilizing,-1.024033309,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570K,NP_000240:p.Asn570Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44429,0.17789,0.608626845260918,Neutral,Neutral,False,0.086,0.10646,,,0.44746,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.233,1.0666,-22.0559,loss_of_function,-4.20768597562482,0.4538658872583847,,,0.9834,pathogenic,-0.01356552,neutral,-0.771490495,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570L,NP_000240:p.Asn570Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29592,-0.05408,0.2253461287055636,Neutral,Neutral,False,0.086,-0.07034,,,0.05701,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2865,1.0666,-22.0559,loss_of_function,-5.08727484065419,0.3452797887422315,,,0.9157,pathogenic,0.221283756,stabilizing,-1.059564354,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570M,NP_000240:p.Asn570Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14558,0.52347,0.5238592436868241,Neutral,Neutral,False,0.086,-0.26786,,,0.32681,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2407,1.0666,-22.0559,loss_of_function,-5.08727484065419,0.3452797887422315,,,0.9623,pathogenic,0.167248367,stabilizing,-0.910613625,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570P,NP_000240:p.Asn570Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.8564,7.71122,5.282114619874596,Destabilizing,Destabilizing,False,0.086,-0.1641,,,0.03956,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.1,-,-0.3954,1.0666,-22.0559,loss_of_function,-5.48891204295784,0.295697286563057,,,0.9872,pathogenic,0.110297686,stabilizing,-1.027542418,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570Q,NP_000240:p.Asn570Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21005,0.10782,0.8090149488593923,Neutral,Neutral,False,0.086,0.25048,,,-0.02572,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.1479,1.0666,-7.1832,loss_of_function,-2.21127612260624,0.7003246199655753,,,0.9664,pathogenic,0.088108815,neutral,-0.30674896,neutral,https://doi.org/10.1101/2022.10.22.513328 +N570R,NP_000240:p.Asn570Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7121,0.07517,0.1884696289374193,Neutral,Neutral,False,0.086,0.1979,,,0.00296,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.1804,1.0666,-5.4462,loss_of_function,-3.31664460867405,0.5638658082447122,,,0.9495,pathogenic,0.092304203,neutral,-0.992300018,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570S,NP_000240:p.Asn570Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11592,0.57109,1.2010536697634109,Neutral,Neutral,False,0.086,0.07402,,,0.10288,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,134658,Conflicting classifications of pathogenicity,1,88.1,-,-0.1125,1.0666,-4.9608,loss_of_function,-2.88758263504789,0.6168339250434051,,,0.2602,benign,0.020521215,neutral,-0.360234226,neutral,https://doi.org/10.1101/2022.10.22.513328 +N570T,NP_000240:p.Asn570Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81286,0.14014,1.2607266545578313,Neutral,Neutral,False,0.086,0.0649,,,0.15869,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,-,-,uncertain,neutral,3230759,Uncertain significance,1,88.1,-,-0.2493,1.0666,-22.0559,loss_of_function,-4.04188163807686,0.47433459354514196,,,0.8003,pathogenic,0.1494961,stabilizing,-0.645226257,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570V,NP_000240:p.Asn570Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2345,1.13163,1.005851990455522,Neutral,Neutral,False,0.086,-0.01772,,,0.06457,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2734,1.0666,-22.0559,loss_of_function,-5.08727484065419,0.3452797887422315,,,0.8909,pathogenic,0.14620358,stabilizing,-1.102592248,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570W,NP_000240:p.Asn570Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44536,0.61327,0.09371135983467,Neutral,Neutral,False,0.086,-0.15172,,,0.11438,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2921,1.0666,-22.0559,loss_of_function,-5.02262569096743,0.3532607889753775,,,0.9948,pathogenic,0.31352032,stabilizing,-0.93395574,damaging,https://doi.org/10.1101/2022.10.22.513328 +N570Y,NP_000240:p.Asn570Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20583,-0.13299,0.3005994270707413,Neutral,Neutral,False,0.086,-0.13428,,,0.12823,,,Uncertain,Neutral,Uncertain,80.3,,True,80.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.1,-,-0.2705,1.0666,-22.0559,loss_of_function,-4.51750049637811,0.4156189841769908,,,0.8544,pathogenic,0.138975415,stabilizing,-1.007248279,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571A,NP_000240:p.Phe571Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.45611,3.14524,4.152008812025251,Destabilizing,Destabilizing,False,0.11,0.05922,,,-0.0365,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.3516,1.0513,-22.0559,loss_of_function,-3.07911890827583,0.59318858633911,,,0.8044,pathogenic,0.061934606,neutral,-0.643936021,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571C,NP_000240:p.Phe571Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.3141,3.30306,4.429729190908232,Destabilizing,Destabilizing,False,0.11,0.0073,,,-0.11812,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.2439,1.0513,-7.1832,loss_of_function,-1.40791425113265,0.7995004221934033,,,0.5008,ambiguous,0.021809042,neutral,-0.232091334,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571D,NP_000240:p.Phe571Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.64219,4.84116,5.470580482312673,Destabilizing,Destabilizing,False,0.11,-0.41662,,,-0.22718,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.4746,1.0513,-22.0559,loss_of_function,-5.01233253809942,0.35453148868043827,,,0.9851,pathogenic,-0.127654018,destabilizing,-1.16400955,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571E,NP_000240:p.Phe571Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.42353,5.38537,5.175363947478875,Destabilizing,Destabilizing,False,0.11,-1.03806,,,-0.17893,,,,Uncertain,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.444,1.0513,-22.0559,loss_of_function,-5.01233253809942,0.35453148868043827,,,0.985,pathogenic,0.085470432,neutral,-0.881521,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571G,NP_000240:p.Phe571Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.25457,4.68333,6.061982748620289,Destabilizing,Destabilizing,False,0.11,0.02182,,,-0.08748,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.387,1.0513,-22.0559,loss_of_function,-4.51882576537247,0.415455378434236,,,0.9188,pathogenic,0.059894115,neutral,-1.175404756,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571H,NP_000240:p.Phe571His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34401,2.57891,2.5296021280095613,Uncertain,Uncertain,False,0.11,0.07124,,,-0.06884,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.3114,1.0513,-8.768,loss_of_function,-1.9844679992912,0.7283243027738933,,,0.8543,pathogenic,0.115242172,stabilizing,-0.259943512,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571I,NP_000240:p.Phe571Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.4643,1.67007,3.064225748741082,Uncertain,Destabilizing,False,0.11,0.03072,,,0.38142,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.2175,1.0513,-6.7682,loss_of_function,-1.28378168012403,0.8148247084827202,,,0.5216,ambiguous,0.131629823,stabilizing,-0.382562228,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571K,NP_000240:p.Phe571Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47645,5.95442,5.399247076975244,Uncertain,Uncertain,False,0.11,0.15118,,,-0.30887,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.4508,1.0513,-22.0559,loss_of_function,-4.02621665994768,0.47626845028891923,,,0.9824,pathogenic,-0.034330136,neutral,-1.006401332,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571L,NP_000240:p.Phe571Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.13025,1.70408,2.18819216034587,Uncertain,Uncertain,False,0.11,0.08374,,,0.01425,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1778577,Uncertain significance,1,88.51,-,-0.1653,1.0513,-3.9608,loss_of_function,-1.04336672029789,0.8445041684558369,,,0.8523,pathogenic,-0.028219539,neutral,0.212068651,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571M,NP_000240:p.Phe571Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01408,2.38231,2.596075492272552,Uncertain,Uncertain,False,0.11,0.02888,,,-0.21033,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.202,1.0513,-5.0677,loss_of_function,-2.57506291394477,0.6554147877318056,,,0.6317,pathogenic,0.235301438,stabilizing,-0.244292578,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571N,NP_000240:p.Phe571Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.5961,3.22891,4.222529216232685,Destabilizing,Destabilizing,False,0.11,0.1571,,,-0.21412,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.4042,1.0513,-22.0559,loss_of_function,-5.01233253809942,0.35453148868043827,,,0.9156,pathogenic,0.156609877,stabilizing,-0.464227178,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571P,NP_000240:p.Phe571Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.08789,4.29694,7.458712631423152,Destabilizing,Destabilizing,False,0.11,-0.1439,,,-0.08127,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.475,1.0513,-22.0559,loss_of_function,-3.68207474761313,0.5187531031557436,,,0.9974,pathogenic,-0.220061152,destabilizing,-0.681716774,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571Q,NP_000240:p.Phe571Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53814,3.79796,4.2632211745652935,Destabilizing,Destabilizing,False,0.11,-0.42252,,,-0.10949,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.4063,1.0513,-22.0559,loss_of_function,-5.01233253809942,0.35453148868043827,,,0.959,pathogenic,-0.058016824,neutral,-0.557764117,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571R,NP_000240:p.Phe571Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.25703,3.98027,4.349983086649583,Destabilizing,Destabilizing,False,0.11,0.38322,,,-0.10948,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.4522,1.0513,-22.0559,loss_of_function,-3.95218319348113,0.48540795353053967,,,0.9507,pathogenic,0.17151733,stabilizing,-0.687874814,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571S,NP_000240:p.Phe571Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93011,4.13367,5.225365711029264,Destabilizing,Destabilizing,False,0.11,0.08458,,,-0.24646,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.3306,1.0513,-22.0559,loss_of_function,-2.78280959172715,0.6297682588625164,,,0.759,pathogenic,0.105574353,neutral,-0.548937803,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571T,NP_000240:p.Phe571Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.83342,3.39864,4.526526229633276,Destabilizing,Destabilizing,False,0.11,0.42124,,,-0.13628,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.304,1.0513,-7.7681,loss_of_function,-2.70044935644641,0.6399357097905239,,,0.7854,pathogenic,0.196118732,stabilizing,-0.100495616,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571V,NP_000240:p.Phe571Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.3037,2.67313,3.232674797692221,Uncertain,Destabilizing,False,0.11,0.0779,,,0.53971,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.51,-,-0.217,1.0513,-7.7681,loss_of_function,-2.66229570092791,0.6446458155701655,,,0.4769,ambiguous,0.058160998,neutral,-0.412362312,neutral,https://doi.org/10.1101/2022.10.22.513328 +F571W,NP_000240:p.Phe571Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.79309,3.02925,1.0644253213769816,Destabilizing,Uncertain,False,0.11,0.08404,,,0.17259,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.51,-,-0.2752,1.0513,-22.0559,loss_of_function,-3.17807776261335,0.5809720197892585,,,0.7524,pathogenic,0.253101968,stabilizing,-1.180459279,damaging,https://doi.org/10.1101/2022.10.22.513328 +F571Y,NP_000240:p.Phe571Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.44731,1.75238,0.7872844287454852,Uncertain,Uncertain,False,0.11,-0.0328,,,0.0048,,,,Neutral,,2.7,,True,2.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.51,-,-0.1529,1.0513,-4.3088,loss_of_function,-0.69107179548514,0.8879953186208412,,,0.3399,benign,0.10638834,neutral,-0.39439074,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572A,NP_000240:p.Gly572Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18054,0.73639,1.1774063430785189,Neutral,Neutral,True,0.182,0.50342,,,0.70128,,,Uncertain,Neutral,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,819893,Uncertain significance,1,85.46,E,-0.1559,1.5523,-5.5982,loss_of_function,-2.31856965541079,0.6870791292750218,,,0.4805,ambiguous,0.018700272,neutral,-0.34563992,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572C,NP_000240:p.Gly572Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53885,1.42177,1.6571040233674517,Neutral,Neutral,True,0.182,1.37762,,,1.07992,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2318,1.5523,-8.768,loss_of_function,-4.23967370610093,0.44991697090566224,,,0.7143,pathogenic,0.110774742,stabilizing,-0.011134741,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572D,NP_000240:p.Gly572Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41019,-0.17449,0.5113033611581763,Neutral,Neutral,True,0.182,2.3463,,,0.95297,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,479695,Uncertain significance,2,85.46,E,-0.2096,1.5523,-4.3088,loss_of_function,-1.42176143131688,0.7977909743690433,,,0.8444,pathogenic,0.205035638,stabilizing,-0.089844979,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572E,NP_000240:p.Gly572Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12729,0.47381,0.896731333174971,Neutral,Neutral,True,0.182,2.37206,,,1.15264,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2198,1.5523,-6.4462,loss_of_function,-1.95704514523572,0.7317096807049371,,,0.8707,pathogenic,0.100051698,neutral,0.115103549,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572F,NP_000240:p.Gly572Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33896,0.73844,0.6114324939509291,Neutral,Neutral,True,0.182,3.25,,,-0.08884,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3377,1.5523,-22.0559,loss_of_function,-4.92183025947977,0.3657040827557413,,,0.9722,pathogenic,0.162450372,stabilizing,-0.130356819,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572H,NP_000240:p.Gly572His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2149,0.67211,0.3502297875416954,Neutral,Neutral,True,0.182,3.82614,,,0.71204,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2396,1.5523,-7.7681,loss_of_function,-4.44675035770841,0.42435315741753427,,,0.9134,pathogenic,0.034514513,neutral,-0.157594687,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572I,NP_000240:p.Gly572Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.2075,1.6619,1.7032017121610463,Uncertain,Uncertain,True,0.182,6.21606,,,1.47657,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3834,1.5523,-22.0559,loss_of_function,-5.11718686084878,0.3415871208370295,,,0.9323,pathogenic,0.168171739,stabilizing,-0.491042608,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572K,NP_000240:p.Gly572Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07715,-0.32619,0.8171922745094736,Neutral,Neutral,True,0.182,2.4954,,,1.21227,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2544,1.5523,-6.7682,loss_of_function,-3.02474480844149,0.5999011217020283,,,0.9431,pathogenic,0.293747289,stabilizing,0.03580608,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572L,NP_000240:p.Gly572Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93393,0.24932,0.6474102963090419,Neutral,Neutral,True,0.182,3.90294,,,0.93423,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3517,1.5523,-22.0559,loss_of_function,-5.11718686084878,0.3415871208370295,,,0.9417,pathogenic,0.209584299,stabilizing,0.034118712,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572M,NP_000240:p.Gly572Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39701,0.50068,0.873263861771206,Neutral,Neutral,True,0.182,1.97704,,,1.21409,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2899,1.5523,-22.0559,loss_of_function,-5.11718686084878,0.3415871208370295,,,0.9596,pathogenic,0.076421649,neutral,0.000528423,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572N,NP_000240:p.Gly572Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78553,-0.03844,0.4390447479436227,Neutral,Neutral,True,0.182,2.91372,,,0.74854,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2118,1.5523,-4.6807,loss_of_function,-2.69674245746724,0.6403933300648872,,,0.8855,pathogenic,-0.000813193,neutral,0.219095895,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572P,NP_000240:p.Gly572Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09488,1.31156,3.134142028938133,Neutral,Uncertain,True,0.182,0.42154,,,0.745,,,Uncertain,Neutral,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3121,1.5523,-5.3087,loss_of_function,-3.00688677043257,0.6021057138150459,,,0.9679,pathogenic,0.297063369,stabilizing,-0.185754647,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572Q,NP_000240:p.Gly572Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0107,0.56735,0.8933095419648287,Neutral,Neutral,True,0.182,2.29598,,,0.45226,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2305,1.5523,-7.7681,loss_of_function,-2.69610127668643,0.6404724844541704,,,0.8696,pathogenic,0.101473787,neutral,-0.014172965,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572R,NP_000240:p.Gly572Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21694,0.52313,0.7142512385418148,Neutral,Neutral,True,0.182,3.326,,,2.25488,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.2317,1.5523,-5.4462,loss_of_function,-2.81481910442709,0.6258166534731352,,,0.8205,pathogenic,0.083687496,neutral,-0.370024146,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572S,NP_000240:p.Gly572Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87561,0.11224,0.8771081481365974,Neutral,Neutral,True,0.182,1.87264,,,0.96637,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,141502,Conflicting classifications of pathogenicity,1,85.46,E,-0.1549,1.5523,-4.2446,loss_of_function,-2.90103546008324,0.6151731607446661,,,0.3669,ambiguous,-0.07537244,neutral,0.094506603,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572T,NP_000240:p.Gly572Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10672,0.74354,1.4808929253695462,Uncertain,Uncertain,True,0.182,2.82734,,,1.8315,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3227,1.5523,-22.0559,loss_of_function,-4.0862071022284,0.46886257200360887,,,0.7463,pathogenic,-0.002658602,neutral,0.439728356,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572V,NP_000240:p.Gly572Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16037,1.47143,1.6265286600986724,Uncertain,Uncertain,True,0.182,4.113,,,1.00136,,,Uncertain,Destabilizing,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,2820507,Likely pathogenic,1,85.46,E,-0.2589,1.5523,-8.768,loss_of_function,-4.78775494416256,0.3822558104735913,,,0.856,pathogenic,0.146936365,stabilizing,-0.311585312,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572W,NP_000240:p.Gly572Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.65838,0.83673,0.5199419675305236,Neutral,Neutral,True,0.182,5.1955,,,-0.0708,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3375,1.5523,-22.0559,loss_of_function,-4.92183025947977,0.3657040827557413,,,0.9149,pathogenic,0.188823673,stabilizing,-0.154909477,neutral,https://doi.org/10.1101/2022.10.22.513328 +G572Y,NP_000240:p.Gly572Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39384,0.8,0.7020369973223789,Neutral,Neutral,True,0.182,2.5711,,,0.90608,,,Uncertain,Uncertain,Uncertain,76.0,,True,76.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.46,E,-0.3381,1.5523,-22.0559,loss_of_function,-4.92183025947977,0.3657040827557413,,,0.9431,pathogenic,0.200810493,stabilizing,-0.132237999,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573A,NP_000240:p.Val573Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22795,1.93673,1.86280205677262,Neutral,Neutral,True,0.253,1.6134,,,0.2366,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1001077,Uncertain significance,2,88.76,E,-0.0002,2.8176,-4.3088,loss_of_function,-2.09996362818307,0.714066255366007,,,0.3871,ambiguous,0.018828792,neutral,-0.185656673,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573C,NP_000240:p.Val573Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70742,1.2432,1.890312886295827,Neutral,Neutral,True,0.253,1.19794,,,0.42581,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.039,2.8176,-6.4462,loss_of_function,-1.21114946800539,0.8237912255159906,,,0.7153,pathogenic,0.063806193,neutral,0.076279234,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573D,NP_000240:p.Val573Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18581,4.39966,2.8002847552106784,Uncertain,Uncertain,True,0.253,1.64322,,,0.57492,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.2574,2.8176,-22.0559,loss_of_function,-3.48772764558278,0.5427454414019672,,,0.6284,pathogenic,0.094897198,neutral,-0.13108218,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573E,NP_000240:p.Val573Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2108,3.59286,2.4276476915302845,Uncertain,Uncertain,True,0.253,1.03924,,,0.23897,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.76,E,-0.1469,2.8176,-8.768,loss_of_function,-2.47101567694556,0.6682595200565519,,,0.5067,ambiguous,0.009161208,neutral,0.215876653,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573F,NP_000240:p.Val573Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98046,1.29354,0.6788822603203037,Neutral,Neutral,True,0.253,5.04158,,,0.81077,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.0777,2.8176,-4.3759,loss_of_function,-1.61709129955898,0.7736773126807776,,,0.208,benign,-0.037049095,neutral,0.118570516,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573G,NP_000240:p.Val573Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56318,3.93605,3.3705859087321293,Uncertain,Uncertain,True,0.253,2.46712,,,0.71297,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.2166,2.8176,-22.0559,loss_of_function,-4.24000613579993,0.44987593213689153,,,0.3885,ambiguous,0.027415825,neutral,-0.080824868,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573H,NP_000240:p.Val573His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70487,2.02687,1.4869952028374336,Uncertain,Neutral,True,0.253,2.70282,,,0.59568,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.1874,2.8176,-7.7681,loss_of_function,-2.56972094664418,0.6560742587763287,,,0.6999,pathogenic,-0.041352778,neutral,-0.09172496,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573I,NP_000240:p.Val573Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30885,0.95,0.1596308559401765,Neutral,Neutral,True,0.253,-0.26906,,,-0.13271,,,Uncertain,Neutral,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,525643,Uncertain significance,2,88.76,E,0.0646,2.8176,-4.2446,gain_of_function,-0.0817820860572949,0.9632127242102142,,,0.0721,benign,0.03597754,neutral,0.111057777,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573K,NP_000240:p.Val573Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38779,3.11259,2.109483688929444,Uncertain,Uncertain,True,0.253,1.04308,,,-0.20308,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.1642,2.8176,-4.5203,loss_of_function,-1.61186654333979,0.7743223139036168,,,0.5212,ambiguous,-0.03213226,neutral,-0.109224492,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573L,NP_000240:p.Val573Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36476,0.45476,0.7460416243139614,Neutral,Neutral,True,0.253,0.34606,,,0.39655,,,Uncertain,Neutral,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.0023,2.8176,-4.5983,loss_of_function,-0.617407731435046,0.8970892187758603,,,0.2563,benign,0.026399537,neutral,-0.127481506,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573M,NP_000240:p.Val573Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59774,2.11871,1.2844386383811304,Uncertain,Neutral,True,0.253,0.38056,,,0.24382,,,Uncertain,Neutral,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.0225,2.8176,-6.7682,loss_of_function,-0.878635449050614,0.8648404036669893,,,0.1796,benign,-0.050657423,neutral,-0.010487319,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573N,NP_000240:p.Val573Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0911,2.20442,1.7705896251399622,Uncertain,Neutral,True,0.253,1.32384,,,0.27452,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.2452,2.8176,-22.0559,loss_of_function,-3.48772764558278,0.5427454414019672,,,0.3991,ambiguous,-0.008239222,neutral,-0.103653927,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573P,NP_000240:p.Val573Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.66539,3.60986,4.965035745467663,Uncertain,Uncertain,True,0.253,2.04942,,,1.45112,,,Uncertain,Destabilizing,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.2155,2.8176,-6.4462,loss_of_function,-2.33406053818952,0.6851667647711155,,,0.8597,pathogenic,-0.093213753,destabilizing,0.116353545,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573Q,NP_000240:p.Val573Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02899,2.54864,1.9952996192772687,Uncertain,Neutral,True,0.253,0.92604,,,0.29581,,,Uncertain,Neutral,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.76,E,-0.1443,2.8176,-6.1832,loss_of_function,-2.7403140759181,0.6350143715062708,,,0.507,ambiguous,0.050405864,neutral,-0.200623937,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573R,NP_000240:p.Val573Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62757,2.5949,1.4979697999992263,Uncertain,Neutral,True,0.253,1.05802,,,0.19513,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.1766,2.8176,-2.8375,loss_of_function,-2.15096624790935,0.7077699324924848,,,0.4776,ambiguous,0.057051872,neutral,-0.078269791,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573S,NP_000240:p.Val573Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52069,2.11973,2.2921329781096214,Uncertain,Uncertain,True,0.253,1.92564,,,0.40295,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.1062,2.8176,-4.7682,loss_of_function,-2.04043750156364,0.7214148134325835,,,0.3581,ambiguous,-0.005863029,neutral,0.142518373,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573T,NP_000240:p.Val573Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70132,0.95102,1.4327720669081945,Neutral,Neutral,True,0.253,1.23546,,,0.47097,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.76,E,-0.0175,2.8176,-3.9608,loss_of_function,-1.76460332321438,0.7554668102860848,,,0.3182,benign,-0.0305283,neutral,0.084476801,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573W,NP_000240:p.Val573Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33958,2.5102,0.7918851483975414,Uncertain,Neutral,True,0.253,0.83132,,,0.7667,,,Uncertain,Neutral,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.2085,2.8176,-22.0559,loss_of_function,-3.45063458872326,0.547324615248465,,,0.865,pathogenic,0.096756468,neutral,0.091242113,neutral,https://doi.org/10.1101/2022.10.22.513328 +V573Y,NP_000240:p.Val573Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79032,1.43605,0.7997512475375803,Neutral,Neutral,True,0.253,5.06678,,,0.63441,,,Uncertain,Uncertain,Uncertain,25.2,,True,25.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.76,E,-0.1304,2.8176,-6.1832,loss_of_function,-2.04953505886057,0.720291711160401,,,0.6254,pathogenic,0.024158094,neutral,-0.009929048,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574A,NP_000240:p.Leu574Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.02596,2.87381,2.492614890526456,Uncertain,Uncertain,True,0.196,1.83998,,,0.61546,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.21,1.5297,-8.7714,loss_of_function,-3.31256665420083,0.564369235679709,,,0.8404,pathogenic,0.007580886,neutral,-0.056431916,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574C,NP_000240:p.Leu574Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10555,2.76973,2.576054765564942,Uncertain,Uncertain,True,0.196,1.55622,,,0.53194,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.1993,1.5297,-8.7714,loss_of_function,-4.32271155566797,0.43966586783678124,,,0.7795,pathogenic,0.048382788,neutral,-0.130031419,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574D,NP_000240:p.Leu574Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90059,2.73197,2.742954363623124,Uncertain,Uncertain,True,0.196,2.46386,,,0.84081,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.3994,1.5297,-22.0592,loss_of_function,-4.3410636594835,0.4374002828207349,,,0.9926,pathogenic,-0.236547876,destabilizing,-0.391676147,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574E,NP_000240:p.Leu574Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08186,3.2966,2.4309884640516346,Uncertain,Uncertain,True,0.196,1.906,,,0.47814,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.3674,1.5297,-22.0592,loss_of_function,-4.3410636594835,0.4374002828207349,,,0.9234,pathogenic,-0.025623441,neutral,-0.354766364,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574F,NP_000240:p.Leu574Phe,"hg19,3:g.37083811C>T",,,0.638,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58131,0.97551,0.876447003084779,Neutral,Neutral,True,0.196,0.29726,,,0.0847,,,Uncertain,Neutral,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.95,E,-0.1273,1.5297,-5.6016,loss_of_function,-1.6730884371082,0.7667644117377452,,,0.2602,benign,-0.066066896,neutral,-0.057540357,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574G,NP_000240:p.Leu574Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.78927,4.25918,3.5938799350816355,Uncertain,Uncertain,True,0.196,2.71692,,,0.69551,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.3527,1.5297,-22.0592,loss_of_function,-5.04305290916115,0.35073902907665455,,,0.9563,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L574H,NP_000240:p.Leu574His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.8726,2.40646,1.7529576596903358,Uncertain,Neutral,True,0.196,1.28906,,,0.50406,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.2524,1.5297,-8.7714,loss_of_function,-3.99718729085648,0.4798521540593093,,,0.7425,pathogenic,0.014420448,neutral,0.07623001,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574I,NP_000240:p.Leu574Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4765,0.30612,0.9165044851175882,Neutral,Neutral,True,0.196,1.18878,,,0.80405,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.95,E,-0.0462,1.5297,-1.3369,loss_of_function,-1.40466309884997,0.7999017800960483,,,0.1594,benign,0.049059872,neutral,-0.017211935,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574K,NP_000240:p.Leu574Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15337,3.24728,2.5181423590887406,Uncertain,Uncertain,True,0.196,1.04002,,,0.56908,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.95,E,-0.3664,1.5297,-22.0592,loss_of_function,-4.75082204037544,0.38681521326796603,,,0.8531,pathogenic,0.014282115,neutral,-0.111279037,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574M,NP_000240:p.Leu574Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48177,1.40238,1.2868072459369742,Neutral,Neutral,True,0.196,0.59302,,,0.01322,,,Uncertain,Neutral,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.95,E,-0.0875,1.5297,-4.8646,loss_of_function,-0.457979274616794,0.9167708164024594,,,0.1551,benign,0.040989537,neutral,0.183202896,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574N,NP_000240:p.Leu574Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.65277,1.93231,2.2127183310416974,Neutral,Uncertain,True,0.196,1.64192,,,0.58978,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.3457,1.5297,-22.0592,loss_of_function,-4.3410636594835,0.4374002828207349,,,0.9442,pathogenic,0.000319131,neutral,-0.017664595,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574P,NP_000240:p.Leu574Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.93636,6.39524,7.30710940144387,Destabilizing,Destabilizing,True,0.196,1.81102,,,0.89337,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,89846,Likely pathogenic,3,88.95,E,-0.3612,1.5297,-22.0592,loss_of_function,-5.04305290916115,0.35073902907665455,,,0.9781,pathogenic,-1.492940379,destabilizing,-1.087947848,damaging,https://doi.org/10.1101/2022.10.22.513328 +L574Q,NP_000240:p.Leu574Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16776,1.97279,2.1243082738490537,Uncertain,Uncertain,True,0.196,1.4989,,,0.4569,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.2986,1.5297,-22.0592,loss_of_function,-4.19622220110253,0.45528110134207234,,,0.6471,pathogenic,-0.114737595,destabilizing,0.162563555,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574R,NP_000240:p.Leu574Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56177,3.11803,1.90558542548324,Uncertain,Neutral,True,0.196,1.24374,,,0.22376,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.95,E,-0.358,1.5297,-22.0592,loss_of_function,-3.73379699329355,0.5123679417602055,,,0.7219,pathogenic,0.039103541,neutral,0.058979107,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574S,NP_000240:p.Leu574Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.6123,3.6017,3.083461406056329,Uncertain,Uncertain,True,0.196,2.34118,,,0.70628,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.3082,1.5297,-22.0592,loss_of_function,-4.32271155566797,0.43966586783678124,,,0.8843,pathogenic,0.096794063,neutral,-0.043536104,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574T,NP_000240:p.Leu574Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39345,3.21701,2.272339724976248,Uncertain,Uncertain,True,0.196,1.89926,,,0.88249,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.95,E,-0.281,1.5297,-22.0592,loss_of_function,-4.17351637421907,0.45808415769360505,,,0.8372,pathogenic,0.015378371,neutral,0.134912549,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574V,NP_000240:p.Leu574Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.60931,1.40884,1.2727502913398865,Neutral,Neutral,True,0.196,1.0777,,,0.95387,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,920440,Uncertain significance,2,88.95,E,-0.1123,1.5297,-7.1865,loss_of_function,-1.98731583106568,0.7279727351791729,,,0.2202,benign,0.082894557,neutral,0.033794126,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574W,NP_000240:p.Leu574Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.795,1.20952,0.8986451663751654,Neutral,Neutral,True,0.196,-0.22796,,,-1.46896,,,Uncertain,Uncertain,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.95,E,-0.3104,1.5297,-22.0592,loss_of_function,-3.99718729085648,0.4798521540593093,,,0.5153,ambiguous,-0.00519822,neutral,0.015068713,neutral,https://doi.org/10.1101/2022.10.22.513328 +L574Y,NP_000240:p.Leu574Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13574,0.82211,1.2467978513946112,Neutral,Neutral,True,0.196,0.10944,,,-0.148,,,Uncertain,Neutral,Uncertain,27.8,,True,27.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.95,E,-0.2194,1.5297,-5.6016,loss_of_function,-2.18405332306065,0.703685300973337,,,0.6493,pathogenic,0.024296291,neutral,-0.079943538,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575A,NP_000240:p.Arg575Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80404,1.40578,1.4899314015951552,Neutral,Neutral,False,0.083,0.40568,,,0.11817,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1424,2.0718,-7.1832,loss_of_function,-2.51379978574166,0.6629777803286349,,,0.7093,pathogenic,0.179910967,stabilizing,0.139865044,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575C,NP_000240:p.Arg575Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65353,1.60952,1.831965697803042,Neutral,Neutral,False,0.083,0.71282,,,0.14324,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1543,2.0718,-7.7681,loss_of_function,-2.12945839966032,0.7104250972196573,,,0.2056,benign,0.249496333,stabilizing,-0.157189822,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575D,NP_000240:p.Arg575Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27334,1.93163,2.476046222420877,Neutral,Uncertain,False,0.083,0.55506,,,0.01645,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.2335,2.0718,-7.1832,loss_of_function,-2.33806038119206,0.6846729802729359,,,0.9035,pathogenic,0.147327341,stabilizing,0.043778275,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575E,NP_000240:p.Arg575Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84683,1.33503,1.95155255199429,Neutral,Neutral,False,0.083,0.3296,,,0.00737,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1691,2.0718,-5.3087,loss_of_function,-2.44980690555586,0.6708777634553603,,,0.5736,pathogenic,0.208342225,stabilizing,0.263041417,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575F,NP_000240:p.Arg575Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48345,0.55306,-0.0512739501659886,Neutral,Neutral,False,0.083,0.37368,,,0.26018,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.44,E,-0.2505,2.0718,-22.0559,loss_of_function,-3.48942750292284,0.542535592364616,,,0.7406,pathogenic,0.388099839,stabilizing,0.097546404,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575G,NP_000240:p.Arg575Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35231,2.46463,2.785140622865814,Uncertain,Uncertain,False,0.083,1.83156,,,0.46729,,,Uncertain,Uncertain,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1778813,Uncertain significance,1,90.44,E,-0.1808,2.0718,-7.7681,loss_of_function,-4.59200576773333,0.4064212361642525,,,0.5719,pathogenic,0.219783249,stabilizing,0.003417457,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575H,NP_000240:p.Arg575His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31137,0.7585,0.93308769146573,Neutral,Neutral,False,0.083,-0.02538,,,0.08714,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1071,2.0718,-6.1832,loss_of_function,-2.47625675183287,0.6676125042783054,,,0.145,benign,0.041093116,neutral,-0.008179444,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575I,NP_000240:p.Arg575Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09943,0.32245,0.2098760610988209,Neutral,Neutral,False,0.083,-0.43508,,,0.35507,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1748,2.0718,-7.7681,loss_of_function,-2.21044029650302,0.7004278035086998,,,0.4595,ambiguous,0.238089544,stabilizing,0.107353163,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575K,NP_000240:p.Arg575Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0709,0.63673,1.36780989769725,Neutral,Neutral,False,0.083,-0.34768,,,-0.04502,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.44,E,-0.0083,2.0718,-2.4106,loss_of_function,-0.0842660209595678,0.9629060800373177,,,0.1642,benign,-0.052869479,neutral,-0.058917599,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575L,NP_000240:p.Arg575Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10214,0.41395,0.2167035117410642,Neutral,Neutral,False,0.083,-0.17334,,,-0.03319,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1449,2.0718,-7.1832,loss_of_function,-3.01905083237718,0.6006040485698521,,,0.3912,ambiguous,0.277903785,stabilizing,0.057675099,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575M,NP_000240:p.Arg575Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30125,1.07925,0.7322325401317042,Neutral,Neutral,False,0.083,-0.32212,,,-0.27486,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1778837,Uncertain significance,1,90.44,E,-0.1188,2.0718,-8.768,loss_of_function,-3.48070205582536,0.5436127572717604,,,0.5065,ambiguous,0.183814985,stabilizing,0.11112572,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575N,NP_000240:p.Arg575Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26482,1.52857,1.5886614362802705,Neutral,Neutral,False,0.083,0.50712,,,0.02615,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1471,2.0718,-5.1832,loss_of_function,-2.30107124065941,0.6892393255480913,,,0.8249,pathogenic,0.15165449,stabilizing,-0.087460301,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575P,NP_000240:p.Arg575Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16797,2.39082,3.936004143411432,Uncertain,Uncertain,False,0.083,4.04628,,,2.18666,,,Uncertain,Destabilizing,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.2845,2.0718,-7.1832,loss_of_function,-3.01371977423572,0.6012621728680998,,,0.8289,pathogenic,0.100446352,neutral,0.235501996,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575Q,NP_000240:p.Arg575Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47031,0.57721,1.4797511365227056,Neutral,Neutral,False,0.083,-0.06846,,,0.01801,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1025,2.0718,-4.3088,loss_of_function,-2.37449239257143,0.680175413132122,,,0.1503,benign,0.08809003,neutral,0.146731821,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575S,NP_000240:p.Arg575Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32895,1.53095,2.1506447644038182,Neutral,Uncertain,False,0.083,1.1323,,,0.23633,,,Uncertain,Uncertain,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1429,2.0718,-7.1832,loss_of_function,-2.32187852367517,0.6866706462784562,,,0.7481,pathogenic,0.133035422,stabilizing,0.217560433,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575T,NP_000240:p.Arg575Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.951,1.27823,1.5165366206669264,Neutral,Neutral,False,0.083,1.07584,,,0.74928,,,Uncertain,Uncertain,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,819939,Uncertain significance,2,90.44,E,-0.1411,2.0718,-5.9608,loss_of_function,-2.32899597526754,0.6857919899760401,,,0.5158,ambiguous,0.064556203,neutral,0.117681523,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575V,NP_000240:p.Arg575Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62321,0.49184,0.5100821480429701,Neutral,Neutral,False,0.083,0.36084,,,0.89479,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.44,E,-0.1589,2.0718,-7.1832,loss_of_function,-2.62919078263812,0.6487326498420662,,,0.5322,ambiguous,0.193364515,stabilizing,0.056615424,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575W,NP_000240:p.Arg575Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13514,0.52075,0.060409879809028,Neutral,Neutral,False,0.083,0.30758,,,0.10348,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.44,E,-0.1601,2.0718,-7.1832,loss_of_function,-1.57602978232912,0.7787463968090713,,,0.2514,benign,0.327978971,stabilizing,-0.020001466,neutral,https://doi.org/10.1101/2022.10.22.513328 +R575Y,NP_000240:p.Arg575Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71911,0.48129,0.296447736066584,Neutral,Neutral,False,0.083,0.18782,,,0.18758,,,Uncertain,Neutral,Uncertain,69.0,,True,69.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.44,E,-0.1669,2.0718,-7.7681,loss_of_function,-2.76719379711335,0.6316960438536161,,,0.512,ambiguous,0.339828663,stabilizing,0.132321298,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576A,NP_000240:p.Leu576Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16122,2.56054,2.8475669612239933,Uncertain,Uncertain,False,0.064,2.01626,,,1.02911,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.2717,0.8586,-8.768,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9512,pathogenic,-0.333875958,destabilizing,-0.748005533,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576C,NP_000240:p.Leu576Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.74203,2.49014,2.8601253638626187,Uncertain,Uncertain,False,0.064,1.64358,,,0.89042,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.261,0.8586,-8.768,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.896,pathogenic,0.039244264,neutral,-0.35001504,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576D,NP_000240:p.Leu576Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47969,3.49694,3.5242550873141565,Uncertain,Uncertain,False,0.064,2.65012,,,1.2558,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.4611,0.8586,-22.0559,loss_of_function,-5.1688827773437,0.33520520980497853,,,0.9977,pathogenic,-1.391868959,destabilizing,-0.99244718,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576E,NP_000240:p.Leu576Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33325,2.94524,3.1600191720538584,Uncertain,Uncertain,False,0.064,2.16234,,,0.51506,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.4292,0.8586,-22.0559,loss_of_function,-5.1688827773437,0.33520520980497853,,,0.9895,pathogenic,-1.348210455,destabilizing,-1.08687595,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576F,NP_000240:p.Leu576Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43674,-0.43401,0.5645997553952256,Neutral,Neutral,False,0.064,0.10602,,,-0.5762,,,,Neutral,,18.8,,True,18.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,483538,Uncertain significance,2,88.27,E,-0.1734,0.8586,-2.5394,loss_of_function,-0.998928906793024,0.8499900596340075,,,0.2726,benign,0.133813998,stabilizing,0.153601239,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576G,NP_000240:p.Leu576Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.63177,3.79048,4.249880380636688,Uncertain,Uncertain,False,0.064,3.20868,,,1.42572,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.4144,0.8586,-22.0559,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9827,pathogenic,-0.810005316,destabilizing,-1.042962592,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576H,NP_000240:p.Leu576His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5455,1.02381,1.797893071817919,Neutral,Neutral,False,0.064,-0.02566,,,0.41088,,,,Neutral,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.3819,0.8586,-22.0559,loss_of_function,-4.21701559212312,0.452714137052715,,,0.9517,pathogenic,-1.16736936,destabilizing,-0.977165125,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576I,NP_000240:p.Leu576Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39473,1.40136,1.037093341945711,Neutral,Neutral,False,0.064,1.42876,,,0.80753,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.27,E,-0.134,0.8586,-6.4462,loss_of_function,-2.15754360878895,0.7069579509124034,,,0.3464,ambiguous,-0.046304045,neutral,-0.001650267,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576K,NP_000240:p.Leu576Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26029,2.62959,3.1725511966687314,Uncertain,Uncertain,False,0.064,2.29962,,,1.11569,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.27,E,-0.4282,0.8586,-22.0559,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9825,pathogenic,-1.279596578,destabilizing,-0.964597339,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576M,NP_000240:p.Leu576Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31749,0.47109,1.3232864622358864,Neutral,Neutral,False,0.064,0.59402,,,-0.09119,,,,Neutral,,18.8,,True,18.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.27,E,-0.1641,0.8586,-7.7681,loss_of_function,-1.68168822363859,0.7657027597494886,,,0.2917,benign,-0.045238899,neutral,-0.112628736,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576N,NP_000240:p.Leu576Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.19721,2.39524,2.5446668341512426,Uncertain,Uncertain,False,0.064,0.92608,,,1.11003,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.4074,0.8586,-22.0559,loss_of_function,-5.1688827773437,0.33520520980497853,,,0.9864,pathogenic,-1.083085393,destabilizing,-0.868819038,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576P,NP_000240:p.Leu576Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88087,4.71633,5.461552048431673,Uncertain,Uncertain,False,0.064,1.32934,,,0.90279,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.423,0.8586,-22.0559,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9786,pathogenic,0.006475729,neutral,-0.401147182,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576Q,NP_000240:p.Leu576Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23582,2.01361,2.403003058942731,Uncertain,Uncertain,False,0.064,0.79514,,,0.38648,,,,Neutral,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.3603,0.8586,-22.0559,loss_of_function,-5.1688827773437,0.33520520980497853,,,0.9566,pathogenic,-0.818002253,destabilizing,-0.912951063,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576R,NP_000240:p.Leu576Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36267,1.04558,2.659394452557227,Neutral,Uncertain,False,0.064,1.65938,,,0.59834,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.27,E,-0.352,0.8586,-8.768,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9551,pathogenic,-1.358206309,destabilizing,-0.96505166,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576S,NP_000240:p.Leu576Ser,"hg19,3:g.37083818T>C",,,0.907,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42004,2.10782,3.444411180559869,Uncertain,Uncertain,False,0.064,2.33624,,,1.09016,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.37,0.8586,-22.0559,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9832,pathogenic,-0.6128798,destabilizing,-0.82165229,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576T,NP_000240:p.Leu576Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75209,2.64796,2.585465137102875,Uncertain,Uncertain,False,0.064,1.33376,,,0.79988,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.3427,0.8586,-22.0559,loss_of_function,-5.36482162234438,0.31101636934520904,,,0.9555,pathogenic,-0.175150093,destabilizing,-0.668652365,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576V,NP_000240:p.Leu576Val,"hg38,3:g.37042326T>G",,,0.726,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95993,2.51327,1.4122633999554517,Uncertain,Neutral,False,0.064,1.13148,,,1.01659,,,,Destabilizing,,18.8,,True,18.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.27,E,-0.25,0.8586,-22.0559,loss_of_function,-2.17991644847738,0.7041960021530671,,,0.4437,ambiguous,-0.076902154,neutral,-0.336589213,neutral,https://doi.org/10.1101/2022.10.22.513328 +L576W,NP_000240:p.Leu576Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2797,1.06054,1.3760588892069618,Neutral,Neutral,False,0.064,1.9621,,,0.11567,,,,Uncertain,,18.8,,True,18.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.27,E,-0.3722,0.8586,-22.0559,loss_of_function,-4.21701559212312,0.452714137052715,,,0.806,pathogenic,-0.2628788,destabilizing,-0.534492937,damaging,https://doi.org/10.1101/2022.10.22.513328 +L576Y,NP_000240:p.Leu576Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06931,0.51973,1.2766479731773983,Uncertain,Uncertain,False,0.064,0.2881,,,-0.83929,,,,Neutral,,18.8,,True,18.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.27,E,-0.3651,0.8586,-22.0559,loss_of_function,-4.21701559212312,0.452714137052715,,,0.8579,pathogenic,-0.344822989,destabilizing,-0.914597803,damaging,https://doi.org/10.1101/2022.10.22.513328 +S577A,NP_000240:p.Ser577Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21574,0.3466,0.3758930820528372,Neutral,Neutral,False,0.041,1.56986,,,0.21178,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,-,-,uncertain,neutral,,,,86.49,E,-0.0108,1.9817,-5.1293,loss_of_function,-0.518045556058158,0.9093555756992097,,,0.1518,benign,-0.011962324,neutral,0.108762667,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577C,NP_000240:p.Ser577Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03153,1.16327,0.9821211399301576,Neutral,Neutral,False,0.041,1.35578,,,-0.15465,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1474,1.9817,-22.002,loss_of_function,-3.37616803064222,0.556517584069957,,,0.3142,benign,0.083423012,neutral,0.154954457,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577D,NP_000240:p.Ser577Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06383,0.17177,0.0054858638520621,Neutral,Neutral,False,0.041,1.76186,,,0.2329,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1018,1.9817,-3.6268,loss_of_function,-2.51974100405365,0.6622443311655305,,,0.8,pathogenic,0.090551081,neutral,0.075153381,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577E,NP_000240:p.Ser577Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35227,0.02245,0.0146749915970328,Neutral,Neutral,False,0.041,1.5287,,,-0.07386,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.077,1.9817,-4.0138,loss_of_function,-2.13902567945505,0.7092440072495296,,,0.7842,pathogenic,0.053840008,neutral,0.026585436,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577F,NP_000240:p.Ser577Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37299,0.78061,0.124689130886702,Neutral,Neutral,False,0.041,0.82716,,,-0.12729,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.175,1.9817,-22.002,loss_of_function,-4.72472017889628,0.3900375133842101,,,0.7015,pathogenic,0.219033202,stabilizing,0.006591632,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577G,NP_000240:p.Ser577Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03215,0.92857,0.6744538480253239,Neutral,Neutral,False,0.041,1.24726,,,0.21306,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,86.49,E,-0.0383,1.9817,-8.7141,loss_of_function,-3.91260299363548,0.4902941675909977,,,0.2587,benign,-0.000203402,neutral,0.040268076,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577H,NP_000240:p.Ser577His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13427,0.4534,-0.0404301452415434,Neutral,Neutral,False,0.041,1.54922,,,-0.36641,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1003,1.9817,-7.1292,loss_of_function,-3.43966059001325,0.5486793660330845,,,0.7847,pathogenic,0.063031052,neutral,0.004894874,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577I,NP_000240:p.Ser577Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10719,1.02449,0.2023227618523648,Neutral,Neutral,False,0.041,0.9527,,,-0.27566,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1781,1.9817,-22.002,loss_of_function,-3.88457820181997,0.49375385532234706,,,0.7022,pathogenic,0.09985492,neutral,-0.00347378,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577K,NP_000240:p.Ser577Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31121,0.15306,0.1308062803753351,Neutral,Neutral,False,0.041,0.93846,,,-0.39073,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1024,1.9817,-5.7142,loss_of_function,-3.18459280603673,0.5801677313595903,,,0.9494,pathogenic,-0.048515664,neutral,0.135135709,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577L,NP_000240:p.Ser577Leu,"hg19,3:g.37083821C>T, hg38,3:g.37042330C>T",6.37104994903e-05,5.9712900375e-05,0.667,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34797,0.4449,-0.0024289169486013,Neutral,Neutral,False,0.041,0.87228,,,-0.02216,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,127619,Conflicting classifications of pathogenicity,1,86.49,E,-0.1066,1.9817,-8.7141,loss_of_function,-4.63505634636255,0.4011066004769831,,,0.2694,benign,0.087344757,neutral,0.01141986,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577M,NP_000240:p.Ser577Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3483,0.84354,0.2431392515782626,Neutral,Neutral,False,0.041,0.34566,,,-0.13105,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1454,1.9817,-22.002,loss_of_function,-4.51545148218599,0.41587193696638186,,,0.5102,ambiguous,0.076944797,neutral,-0.18037475,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577N,NP_000240:p.Ser577Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00348,0.3398,0.1744474495078385,Neutral,Neutral,False,0.041,1.19812,,,-0.12961,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.0272,1.9817,-3.9594,loss_of_function,-2.21889555635008,0.6993839934796791,,,0.6151,pathogenic,0.045286579,neutral,-0.018161635,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577P,NP_000240:p.Ser577Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71863,-0.3017,0.6147281700308784,Neutral,Neutral,False,0.041,5.05048,,,1.76987,,,Uncertain,Destabilizing,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,1387500,Uncertain significance,1,86.49,E,-0.1745,1.9817,-7.1292,loss_of_function,-4.34222648605802,0.437256730752265,,,0.5614,ambiguous,-0.165492759,destabilizing,0.054433985,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577Q,NP_000240:p.Ser577Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17867,0.37585,0.3021864265809298,Neutral,Neutral,False,0.041,0.83396,,,0.29971,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.0511,1.9817,-4.8074,loss_of_function,-2.44532821782446,0.6714306617997574,,,0.8079,pathogenic,0.007825861,neutral,0.076064102,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577R,NP_000240:p.Ser577Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33492,0.18367,0.1015910097618727,Neutral,Neutral,False,0.041,1.19908,,,-1.20394,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.1908,1.9817,-22.002,loss_of_function,-4.2814527875827,0.4447593027744924,,,0.922,pathogenic,0.023878422,neutral,4.25216289204159e-05,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577T,NP_000240:p.Ser577Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02211,0.47177,0.2554938369379944,Neutral,Neutral,False,0.041,-0.02556,,,0.04107,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,neutral,,,UP,-,neutral,neutral,,,,86.49,E,-0.0009,1.9817,-5.0138,loss_of_function,-1.78290045815555,0.7532080112308933,,,0.195,benign,0.065015548,neutral,0.405576083,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577V,NP_000240:p.Ser577Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01105,0.84762,0.3482282545194493,Neutral,Neutral,False,0.041,1.3678,,,-0.16915,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.0795,1.9817,-7.7142,loss_of_function,-3.7659615835724,0.5083971918932955,,,0.5829,pathogenic,0.121762811,stabilizing,-0.036797177,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577W,NP_000240:p.Ser577Trp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26905,0.20102,-0.1956762087899871,Neutral,Neutral,False,0.041,1.50708,,,-0.08414,,,Uncertain,Uncertain,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,182528,Uncertain significance,1,86.49,E,-0.1847,1.9817,-22.002,loss_of_function,-4.72472017889628,0.3900375133842101,,,0.7246,pathogenic,0.3474008,stabilizing,-0.146146932,neutral,https://doi.org/10.1101/2022.10.22.513328 +S577Y,NP_000240:p.Ser577Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30792,0.53367,0.1704848632851741,Neutral,Neutral,False,0.041,0.93908,,,-0.68622,,,Uncertain,Neutral,Uncertain,110.9,,True,110.9,,uncertain,,,UP,-,neutral,neutral,,,,86.49,E,-0.112,1.9817,-8.7141,loss_of_function,-4.72472017889628,0.3900375133842101,,,0.6309,pathogenic,0.087958444,neutral,0.075678775,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578A,NP_000240:p.Glu578Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25824,0.13707,0.329357710367793,Neutral,Neutral,False,0.013,2.14286,,,0.69462,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.019,2.4187,-6.7414,loss_of_function,-1.90276926906459,0.7384100902613634,,,0.1713,benign,0.063203778,neutral,-0.008316838,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578C,NP_000240:p.Glu578Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16615,0.76497,0.6688798990733513,Neutral,Neutral,False,0.013,2.10776,,,1.05294,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.1664,2.4187,-22.0292,loss_of_function,-2.95723642933621,0.6082350965801061,,,0.7662,pathogenic,0.027387302,neutral,0.074125462,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578D,NP_000240:p.Glu578Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12776,0.2483,0.1101341119351367,Neutral,Neutral,False,0.013,1.64196,,,0.59831,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,495760,Uncertain significance,2,87.5,E,0.0275,2.4187,-4.3491,gain_of_function,-0.776885274106655,0.8774015614530553,,,0.1464,benign,-0.031772146,neutral,-0.032170527,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578F,NP_000240:p.Glu578Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.97158,0.31667,-0.3694680616221341,Neutral,Neutral,False,0.013,2.05388,,,0.62382,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.144,2.4187,-22.0292,loss_of_function,-4.00292490796466,0.47914383966229157,,,0.7484,pathogenic,0.064928921,neutral,-0.138252199,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578G,NP_000240:p.Glu578Gly,"hg19,3:g.37089011A>G, hg38,3:g.37047520A>G",0.0001592255270365,0.0001154283985703,0.797,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61338,1.06701,0.9054874585140454,Neutral,Neutral,False,0.013,2.54856,,,0.79449,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,17090,Benign,3,87.5,E,-0.0499,2.4187,-7.7414,loss_of_function,-2.71308252851158,0.6383761324459492,,,0.1821,benign,0.023635251,neutral,-0.075543464,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578H,NP_000240:p.Glu578His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71414,-0.73844,-0.2212600045173218,Neutral,Neutral,False,0.013,1.94412,,,0.8216,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.0675,2.4187,-8.7413,loss_of_function,-2.7356452535896,0.6355907421510948,,,0.4107,ambiguous,-0.012692371,neutral,-0.12495691,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578I,NP_000240:p.Glu578Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37051,0.21531,-0.4859061248360652,Neutral,Neutral,False,0.013,1.72056,,,1.33387,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.0764,2.4187,-7.7414,loss_of_function,-3.36828352813268,0.5574909335520735,,,0.3553,ambiguous,-0.01589475,neutral,-0.099088134,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578K,NP_000240:p.Glu578Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72615,0.02789,0.0666878785361635,Neutral,Neutral,False,0.013,2.17826,,,0.69946,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,216333,Uncertain significance,2,87.5,E,-0.0394,2.4187,-6.4195,loss_of_function,-2.39331672272325,0.6778515313168401,,,0.1369,benign,-0.038946704,neutral,0.13327351,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578L,NP_000240:p.Glu578Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4115,0.55782,-0.3735200065487237,Neutral,Neutral,False,0.013,1.78592,,,0.84437,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.1515,2.4187,-22.0292,loss_of_function,-3.64453527362384,0.5233873876298992,,,0.4135,ambiguous,0.04943915,neutral,-0.249102943,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578M,NP_000240:p.Glu578Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58424,0.70034,-0.0984266089079471,Neutral,Neutral,False,0.013,1.83388,,,0.76401,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.1003,2.4187,-22.0292,loss_of_function,-1.8991318153193,0.738859137454248,,,0.44,ambiguous,-0.000844918,neutral,-0.142048398,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578N,NP_000240:p.Glu578Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01517,0.43776,0.1620608483089108,Neutral,Neutral,False,0.013,1.8789,,,0.35661,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.0314,2.4187,-4.041,loss_of_function,-0.459908144638409,0.916532695527447,,,0.213,benign,-0.044405558,neutral,-0.191775711,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578P,NP_000240:p.Glu578Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43574,4.86701,1.995138924649732,Uncertain,Uncertain,False,0.013,2.64682,,,4.79151,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.1515,2.4187,-1.9471,loss_of_function,-1.7867146557339,0.7527371448403907,,,0.7358,pathogenic,0.157142515,stabilizing,-0.109429004,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578Q,NP_000240:p.Glu578Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72278,0.05884,0.1781227922370809,Neutral,Neutral,False,0.013,1.84226,,,0.61682,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,0.0101,2.4187,-6.4195,gain_of_function,-1.30796128291485,0.8118397130659835,,,0.1233,benign,-0.068408453,neutral,-0.018063915,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578R,NP_000240:p.Glu578Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.15594,0.10374,-0.0642504601620136,Neutral,Neutral,False,0.013,1.85578,,,1.22505,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.1117,2.4187,-8.7413,loss_of_function,-3.75828592352405,0.5093447595710182,,,0.236,benign,0.037430049,neutral,-0.222966843,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578S,NP_000240:p.Glu578Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17219,-0.1068,0.2914160153707085,Neutral,Neutral,False,0.013,2.65294,,,0.93736,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.0184,2.4187,-3.9866,loss_of_function,-0.80217147570287,0.8742799553404832,,,0.1619,benign,-0.04410316,neutral,-0.043253586,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578T,NP_000240:p.Glu578Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36711,0.14558,0.0379058923786396,Neutral,Neutral,False,0.013,2.3845,,,1.35448,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.5,E,-0.0302,2.4187,-3.1869,loss_of_function,-0.696628037083396,0.8873093952064427,,,0.1852,benign,0.029417897,neutral,-0.068274013,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578V,NP_000240:p.Glu578Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23884,0.00476,-0.3366605547580031,Neutral,Neutral,False,0.013,2.057,,,1.1917,,,Uncertain,Destabilizing,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.5,E,-0.1102,2.4187,-22.0292,loss_of_function,-2.26823334458233,0.6932931956688436,,,0.1925,benign,-0.008718827,neutral,-0.066116486,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578W,NP_000240:p.Glu578Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98794,1.72925,-0.6142006013491019,Neutral,Neutral,False,0.013,2.10694,,,0.95553,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.1541,2.4187,-22.0292,loss_of_function,-4.00292490796466,0.47914383966229157,,,0.9179,pathogenic,0.28254411,stabilizing,-0.198150693,neutral,https://doi.org/10.1101/2022.10.22.513328 +E578Y,NP_000240:p.Glu578Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.86055,-0.02313,-0.2980273907326425,Neutral,Neutral,False,0.013,2.04194,,,0.52711,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.5,E,-0.1448,2.4187,-22.0292,loss_of_function,-4.00292490796466,0.47914383966229157,,,0.606,pathogenic,0.060510795,neutral,-0.140162408,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579A,NP_000240:p.Pro579Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21375,0.63333,-0.5652151465765487,Neutral,Neutral,False,0.011,0.2183,,,0.00765,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.9,E,-0.1376,1.0639,-4.1666,loss_of_function,-0.654663682170986,0.892489935522325,,,0.0754,benign,-0.010733896,neutral,0.123239492,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579C,NP_000240:p.Pro579Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50075,1.45238,0.0760544934996915,Neutral,Neutral,False,0.011,0.23036,,,-0.076,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.9,E,-0.2615,1.0639,-22.0393,loss_of_function,-2.59812606896925,0.6525676188746851,,,0.5254,ambiguous,0.008153344,neutral,-0.115442133,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579D,NP_000240:p.Pro579Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68093,1.18435,-0.2477324100056022,Uncertain,Uncertain,False,0.011,0.1515,,,0.03104,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.9,E,-0.2196,1.0639,-8.7514,loss_of_function,-2.49128894681362,0.6657567652279489,,,0.6373,pathogenic,-0.128586287,destabilizing,-0.495362182,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579E,NP_000240:p.Pro579Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37763,1.2068,-0.5663091289869221,Neutral,Neutral,False,0.011,0.06522,,,-0.25895,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.1932,1.0639,-6.7515,loss_of_function,-2.64918528270434,0.646264309415884,,,0.3443,ambiguous,0.00546313,neutral,-0.09359573,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579F,NP_000240:p.Pro579Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67264,0.6881,-1.0458878358494943,Neutral,Neutral,False,0.011,0.24194,,,0.04348,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2899,1.0639,-22.0393,loss_of_function,-4.52136658313263,0.4151417120173617,,,0.7299,pathogenic,-0.141604792,destabilizing,-0.564762934,damaging,https://doi.org/10.1101/2022.10.22.513328 +P579G,NP_000240:p.Pro579Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18682,2.02245,0.2884502190208549,Uncertain,Uncertain,False,0.011,0.15728,,,-0.06809,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.9,E,-0.1651,1.0639,-6.7515,loss_of_function,-3.4000358737147,0.5535710756928304,,,0.3536,ambiguous,0.028889986,neutral,-0.226566762,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579H,NP_000240:p.Pro579His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5766,1.12823,-0.918677019873224,Neutral,Neutral,False,0.011,0.20112,,,-0.13502,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2675,1.0639,-22.0393,loss_of_function,-4.52136658313263,0.4151417120173617,,,0.3009,benign,-0.010774224,neutral,-0.1493849,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579I,NP_000240:p.Pro579Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21302,0.7534,-0.9237342333733484,Neutral,Neutral,False,0.011,0.2501,,,-0.06463,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2729,1.0639,-22.0393,loss_of_function,-4.25791935631002,0.44766452769058207,,,0.5542,ambiguous,-0.043097452,neutral,-0.247869912,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579K,NP_000240:p.Pro579Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38976,-0.06667,-0.4488537516752666,Neutral,Neutral,False,0.011,0.19424,,,-0.01192,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.1818,1.0639,-6.1666,loss_of_function,-2.2367400991826,0.6971810673592774,,,0.3232,benign,-0.153817252,destabilizing,-0.159895688,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579L,NP_000240:p.Pro579Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04847,0.82721,-1.200010256355886,Neutral,Neutral,False,0.011,0.18382,,,0.02755,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,2773579,Uncertain significance,1,89.9,E,-0.2775,1.0639,-22.0393,loss_of_function,-4.25791935631002,0.44766452769058207,,,0.2564,benign,-0.270633577,destabilizing,-0.512824182,damaging,https://doi.org/10.1101/2022.10.22.513328 +P579M,NP_000240:p.Pro579Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60313,0.61565,-0.8724279081967656,Neutral,Neutral,False,0.011,0.22148,,,-0.09167,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2285,1.0639,-22.0393,loss_of_function,-4.25791935631002,0.44766452769058207,,,0.4633,ambiguous,-0.18895353,destabilizing,-0.255611119,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579N,NP_000240:p.Pro579Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.45223,0.8398,-0.5943974395702128,Neutral,Neutral,False,0.011,0.21856,,,-0.00123,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.9,E,-0.2555,1.0639,-22.0393,loss_of_function,-3.70575945101005,0.5158292035491951,,,0.4829,ambiguous,-0.033809177,neutral,-0.222463545,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579Q,NP_000240:p.Pro579Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21821,1.30714,-0.4521325828093708,Neutral,Neutral,False,0.011,0.09832,,,-0.33839,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,1026991,Uncertain significance,1,89.9,E,-0.1843,1.0639,-7.7515,loss_of_function,-2.66539255889721,0.64426350545016,,,0.2146,benign,-0.015400708,neutral,-0.05494167,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579R,NP_000240:p.Pro579Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33924,0.65034,-0.7184379707924665,Neutral,Neutral,False,0.011,0.20964,,,-0.06039,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2189,1.0639,-6.4296,loss_of_function,-2.23520800285236,0.697370206137252,,,0.2004,benign,-0.05922013,neutral,-0.078289327,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579S,NP_000240:p.Pro579Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16198,1.24966,-0.4046098220477601,Uncertain,Uncertain,False,0.011,0.1897,,,-0.0032,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.9,E,-0.1407,1.0639,-4.8447,loss_of_function,-0.813316650068781,0.8729040727551163,,,0.1664,benign,-0.058384292,neutral,-0.185318652,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579T,NP_000240:p.Pro579Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91867,0.94388,-0.5780608585585539,Neutral,Neutral,False,0.011,0.20196,,,-0.03084,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.9,E,-0.1626,1.0639,-6.7515,loss_of_function,-2.35170633086329,0.6829883745505826,,,0.1619,benign,0.014211644,neutral,-0.177461453,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579V,NP_000240:p.Pro579Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.7098,0.74422,-0.7849212474040212,Neutral,Neutral,False,0.011,0.2225,,,-0.1102,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.1524,1.0639,-7.1665,loss_of_function,-2.35594359296107,0.6824652804348187,,,0.347,ambiguous,0.080158951,neutral,-0.000196674,neutral,https://doi.org/10.1101/2022.10.22.513328 +P579W,NP_000240:p.Pro579Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15384,0.51463,-1.3762706315218198,Neutral,Neutral,False,0.011,0.1917,,,-0.15416,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.3024,1.0639,-22.0393,loss_of_function,-4.52136658313263,0.4151417120173617,,,0.8136,pathogenic,-0.525442139,destabilizing,-0.906467569,damaging,https://doi.org/10.1101/2022.10.22.513328 +P579Y,NP_000240:p.Pro579Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74071,0.49898,-1.023560091342942,Neutral,Neutral,False,0.011,0.18118,,,0.00888,,,Uncertain,Neutral,Uncertain,48.8,,True,48.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.9,E,-0.2909,1.0639,-22.0393,loss_of_function,-4.52136658313263,0.4151417120173617,,,0.646,pathogenic,-0.040700245,neutral,-0.332899217,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580C,NP_000240:p.Ala580Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.32508,0.67483,0.7861875738720314,Neutral,Neutral,False,0.015,0.39024,,,0.69895,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.0766,2.0653,-7.7448,loss_of_function,-2.17256170477257,0.7051039523969176,,,0.6649,pathogenic,0.135639335,stabilizing,-0.137471803,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580D,NP_000240:p.Ala580Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3493,0.27619,0.9126009086452916,Neutral,Neutral,False,0.015,2.42506,,,1.01233,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1583,2.0653,-7.7448,loss_of_function,-2.91707898360326,0.613192572205232,,,0.9784,pathogenic,-0.658386648,destabilizing,-0.41456366,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580E,NP_000240:p.Ala580Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16745,-0.08639,0.5583184487181505,Neutral,Neutral,False,0.015,1.72184,,,1.17369,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1491,2.0653,-8.7447,loss_of_function,-4.08107321578807,0.4694963552641118,,,0.9437,pathogenic,-0.200857454,destabilizing,0.155738727,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580F,NP_000240:p.Ala580Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.98728,-1.56973,-0.4784045694804689,Neutral,Neutral,False,0.015,5.72236,,,0.93166,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1267,2.0653,-7.7448,loss_of_function,-2.93700022097599,0.6107332761296197,,,0.811,pathogenic,-0.008582014,neutral,0.223396744,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580G,NP_000240:p.Ala580Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68524,3.65646,1.248814389090639,Uncertain,Neutral,False,0.015,0.4981,,,0.16603,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.76,E,-0.065,2.0653,-6.7448,loss_of_function,-3.73402856860415,0.5123393535635031,,,0.5,ambiguous,-0.231959818,destabilizing,-0.357151271,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580H,NP_000240:p.Ala580His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98044,-0.43231,-0.0513188403839243,Neutral,Neutral,False,0.015,16.0611,,,1.00851,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.2037,2.0653,-22.0326,loss_of_function,-4.31504753080949,0.4406119991390293,,,0.9638,pathogenic,-0.125045115,destabilizing,0.048184109,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580I,NP_000240:p.Ala580Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59652,-1.99592,-0.4106885143104721,Neutral,Neutral,False,0.015,2.33878,,,0.60343,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1014,2.0653,-4.8379,loss_of_function,-1.95256259161106,0.7322630562976069,,,0.5046,ambiguous,0.093278963,neutral,-0.061530696,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580K,NP_000240:p.Ala580Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.35731,-0.35714,0.2865810074977593,Neutral,Neutral,False,0.015,2.2874,,,1.48825,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.2215,2.0653,-22.0326,loss_of_function,-4.97394537806728,0.35927042081876864,,,0.9799,pathogenic,-0.251637164,destabilizing,0.079548443,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580L,NP_000240:p.Ala580Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.94726,-1.46293,-0.81522805201592,Neutral,Neutral,False,0.015,2.61284,,,0.65815,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.0931,2.0653,-2.2854,loss_of_function,-1.92841290317808,0.735244358757854,,,0.3413,ambiguous,-0.039653801,neutral,-0.130547759,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580M,NP_000240:p.Ala580Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.82069,-1.11939,-0.4437675357467091,Neutral,Neutral,False,0.015,1.31172,,,0.82627,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.0767,2.0653,-7.1598,loss_of_function,-1.95729034799326,0.7316794101866926,,,0.5194,ambiguous,-0.055161393,neutral,0.008766408,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580N,NP_000240:p.Ala580Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43868,-0.50408,0.4200637024242387,Neutral,Neutral,False,0.015,2.7356,,,0.60896,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.2016,2.0653,-22.0326,loss_of_function,-2.93171651506504,0.6113855547490832,,,0.9354,pathogenic,-0.246925506,destabilizing,0.177811641,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580P,NP_000240:p.Ala580Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.21475,2.49388,5.758019807539063,Uncertain,Uncertain,False,0.015,0.24532,,,0.11336,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,220454,Uncertain significance,1,91.76,E,-0.1739,2.0653,-3.0169,loss_of_function,-2.1789587900705,0.7043142260122458,,,0.6403,pathogenic,-0.041471097,neutral,0.073995026,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580Q,NP_000240:p.Ala580Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35539,-0.80374,0.2424445652884038,Neutral,Neutral,False,0.015,0.69562,,,0.98234,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1262,2.0653,-7.7448,loss_of_function,-4.08107321578807,0.4694963552641118,,,0.9132,pathogenic,-0.081943911,destabilizing,0.082876098,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580R,NP_000240:p.Ala580Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82558,-0.57891,-0.2546927098342311,Neutral,Neutral,False,0.015,4.34546,,,1.91783,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.1644,2.0653,-8.7447,loss_of_function,-4.97394537806728,0.35927042081876864,,,0.9505,pathogenic,-0.569361046,destabilizing,0.257649948,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580S,NP_000240:p.Ala580Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78234,0.62245,0.7871972353838943,Neutral,Neutral,False,0.015,0.88098,,,0.31631,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,-,-,uncertain,neutral,1779132,Uncertain significance,1,91.76,E,-0.0413,2.0653,-7.7448,loss_of_function,-2.46941007196623,0.668457733548554,,,0.2816,benign,-0.018483914,neutral,0.055874738,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580T,NP_000240:p.Ala580Thr,"hg19,3:g.37089016G>A, hg38,3:g.37047525G>A",,,0.703,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64461,-0.28061,0.4169296622842722,Neutral,Neutral,False,0.015,1.00502,,,0.66338,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,405428,Uncertain significance,2,91.76,E,-0.0443,2.0653,-7.1598,loss_of_function,-1.76457980625617,0.7554697134773853,,,0.3321,benign,-0.074155204,neutral,0.152784503,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580V,NP_000240:p.Ala580Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72858,-1.40204,-0.2678467091177583,Neutral,Neutral,False,0.015,0.48444,,,-0.13406,,,Uncertain,Neutral,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.0281,2.0653,-4.5749,loss_of_function,-1.11868796864122,0.8352056872924862,,,0.26,benign,-0.018856624,neutral,0.123195186,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580W,NP_000240:p.Ala580Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.51478,-1.02075,-0.790300006882314,Neutral,Neutral,False,0.015,7.09596,,,0.91016,,,Uncertain,Uncertain,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.2105,2.0653,-22.0326,loss_of_function,-4.31504753080949,0.4406119991390293,,,0.9814,pathogenic,0.078298234,neutral,0.080896174,neutral,https://doi.org/10.1101/2022.10.22.513328 +A580Y,NP_000240:p.Ala580Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.6931,-0.83265,-0.3891871724730289,Neutral,Neutral,False,0.015,2.19828,,,1.13815,,,Uncertain,Destabilizing,Uncertain,28.6,,False,28.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.76,E,-0.2188,2.0653,-22.0326,loss_of_function,-4.31504753080949,0.4406119991390293,,,0.9311,pathogenic,0.034470443,neutral,0.145886085,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581A,NP_000240:p.Pro581Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87605,1.08129,0.3340756006755474,Neutral,Neutral,False,0.017,0.55246,,,-0.6059,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.27,E,-0.0901,1.7461,-7.1699,loss_of_function,-1.20231788404736,0.8248814931215136,,,0.1244,benign,0.069668639,neutral,0.266497069,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581C,NP_000240:p.Pro581Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18733,1.17211,1.0088531191090762,Uncertain,Uncertain,False,0.017,0.60194,,,-0.42867,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.27,E,-0.1987,1.7461,-22.0426,loss_of_function,-3.79915923694334,0.5042989093856813,,,0.4654,ambiguous,-0.075277757,neutral,0.01727158,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581D,NP_000240:p.Pro581Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98321,1.02381,0.6454039684762253,Neutral,Neutral,False,0.017,0.63166,,,-0.58574,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.27,E,-0.1311,1.7461,-3.7105,loss_of_function,-2.78001604136261,0.630113125364531,,,0.5936,pathogenic,0.074770367,neutral,0.007139846,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581E,NP_000240:p.Pro581Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15227,1.35034,0.6641453852564383,Neutral,Neutral,False,0.017,0.58388,,,-0.71443,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1406,1.7461,-8.7547,loss_of_function,-2.82571823360779,0.624471145404526,,,0.3955,ambiguous,-0.018734336,neutral,-0.227125588,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581F,NP_000240:p.Pro581Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63341,0.36735,0.0176600314538472,Neutral,Neutral,False,0.017,0.6341,,,-0.09295,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1593,1.7461,-8.7547,loss_of_function,-4.82712948597296,0.3773949850970562,,,0.688,pathogenic,-0.023383892,neutral,-0.145107661,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581G,NP_000240:p.Pro581Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99055,2.47619,1.3220436400619022,Uncertain,Neutral,False,0.017,0.60632,,,-0.10161,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.27,E,-0.1045,1.7461,-7.1699,loss_of_function,-3.81061500194396,0.5028846840852126,,,0.3923,ambiguous,-0.013749566,neutral,0.160894936,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581H,NP_000240:p.Pro581His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54528,1.16531,0.0612545102062261,Neutral,Neutral,False,0.017,0.58254,,,-0.28108,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1369,1.7461,-8.7547,loss_of_function,-4.82712948597296,0.3773949850970562,,,0.2395,benign,0.06212051,neutral,-0.028803392,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581I,NP_000240:p.Pro581Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.38903,1.52789,0.1929084590306251,Uncertain,Uncertain,False,0.017,0.62966,,,-0.16401,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.2102,1.7461,-22.0426,loss_of_function,-3.9398923487502,0.48692527023367344,,,0.5935,pathogenic,-0.144651794,destabilizing,-0.369347138,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581K,NP_000240:p.Pro581Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.74233,1.16565,0.1858801338837934,Neutral,Neutral,False,0.017,0.62374,,,-0.09217,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1123,1.7461,-4.848,loss_of_function,-3.11303366827711,0.5890017763224464,,,0.377,ambiguous,-0.106084023,destabilizing,-0.030843269,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581L,NP_000240:p.Pro581Leu,"hg38,3:g.37047529C>T",9.55474871011e-05,0.0001791002005922,0.853,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61265,0.14592,-0.1841836893891962,Neutral,Neutral,False,0.017,0.71916,,,-0.47399,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,41635,Likely benign,3,94.27,E,-0.1389,1.7461,-7.1699,loss_of_function,-2.48410717313915,0.6666433621537873,,,0.1762,benign,-0.09656087,destabilizing,-0.112590287,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581M,NP_000240:p.Pro581Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51993,0.48571,0.2938550438081355,Neutral,Neutral,False,0.017,0.67584,,,-0.46549,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1657,1.7461,-22.0426,loss_of_function,-4.08917727166162,0.46849590170625977,,,0.4712,ambiguous,-0.046779418,neutral,-0.037724985,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581N,NP_000240:p.Pro581Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2777,0.68435,0.2441577108469211,Neutral,Neutral,False,0.017,0.5825,,,-0.36116,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.27,E,-0.1055,1.7461,-4.9475,loss_of_function,-2.77258066824576,0.6310310293875017,,,0.4237,ambiguous,0.009920065,neutral,0.070770419,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581Q,NP_000240:p.Pro581Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41548,1.61293,0.4766877139279341,Uncertain,Uncertain,False,0.017,0.59188,,,0.08282,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1266,1.7461,-8.7547,loss_of_function,-2.75120087178742,0.6336703859969138,,,0.2262,benign,0.013513969,neutral,0.134633479,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581R,NP_000240:p.Pro581Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37572,1.12789,-0.1282865785880477,Neutral,Neutral,False,0.017,0.66216,,,-0.29731,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.1562,1.7461,-6.4329,loss_of_function,-4.37339373374279,0.4334091037959338,,,0.2234,benign,-0.053595814,neutral,-0.112048649,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581S,NP_000240:p.Pro581Ser,"hg19,3:g.37089019C>T",,,0.669,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95872,1.37075,0.5366411217208819,Neutral,Neutral,False,0.017,0.39942,,,-0.15851,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.27,E,-0.068,1.7461,-2.8969,loss_of_function,-0.796028822004577,0.8750382718974024,,,0.13,benign,-0.044562299,neutral,-0.056265828,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581T,NP_000240:p.Pro581Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6483,0.6983,0.5961890413874446,Neutral,Neutral,False,0.017,0.64326,,,-0.10437,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.27,E,-0.11,1.7461,-8.7547,loss_of_function,-2.62873507583678,0.6487889072886897,,,0.1978,benign,0.031027133,neutral,-0.191281513,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581V,NP_000240:p.Pro581Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.13053,1.44694,0.2679037714181248,Uncertain,Uncertain,False,0.017,0.7317,,,-0.12358,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.0926,1.7461,-7.7548,loss_of_function,-2.91785580716879,0.6130966725826128,,,0.4002,ambiguous,-0.049006762,neutral,-0.113881046,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581W,NP_000240:p.Pro581Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6015,0.22177,-0.3936028836202032,Neutral,Neutral,False,0.017,0.66328,,,-0.05094,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.2396,1.7461,-22.0426,loss_of_function,-4.82712948597296,0.3773949850970562,,,0.798,pathogenic,0.130239237,stabilizing,-0.266241195,neutral,https://doi.org/10.1101/2022.10.22.513328 +P581Y,NP_000240:p.Pro581Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84582,0.16667,0.0625459699027652,Neutral,Neutral,False,0.017,0.62068,,,-0.0152,,,Uncertain,Neutral,Uncertain,46.8,,False,46.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.27,E,-0.2281,1.7461,-22.0426,loss_of_function,-4.82712948597296,0.3773949850970562,,,0.6022,pathogenic,-0.0678656,neutral,-0.029023598,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582A,NP_000240:p.Leu582Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.26829,3.76259,3.766152472245786,Destabilizing,Destabilizing,False,0.032,-0.11986,,,0.02605,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.2301,1.2551,-7.7548,loss_of_function,-3.90976286241898,0.49064478454436644,,,0.6537,pathogenic,-0.493590537,destabilizing,-0.843502067,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582C,NP_000240:p.Leu582Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.19401,3.3034,3.8182380754942433,Destabilizing,Destabilizing,False,0.032,-0.07414,,,0.00465,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.2922,1.2551,-22.0426,loss_of_function,-3.90976286241898,0.49064478454436644,,,0.7683,pathogenic,-0.095222797,destabilizing,-0.110972004,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582D,NP_000240:p.Leu582Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.313,4.74286,4.783920587412712,Destabilizing,Destabilizing,False,0.032,-0.08724,,,-0.00287,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.3567,1.2551,-8.7547,loss_of_function,-3.67674347107263,0.5194112544155647,,,0.9971,pathogenic,-1.303628592,destabilizing,-1.067312225,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582E,NP_000240:p.Leu582Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.35173,4.80544,4.337783699612091,Destabilizing,Destabilizing,False,0.032,-0.0433,,,-0.01436,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.3926,1.2551,-22.0426,loss_of_function,-3.06194873605928,0.5953082607528867,,,0.9811,pathogenic,-1.40201786,destabilizing,-1.06155025,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582F,NP_000240:p.Leu582Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.89305,1.24218,2.2476958233241726,Neutral,Uncertain,False,0.032,0.07628,,,0.03559,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89870,Conflicting classifications of pathogenicity,1,93.65,H,-0.1687,1.2551,-8.7547,loss_of_function,-4.52482695637451,0.4147145255843764,,,0.6599,pathogenic,-1.276902239,destabilizing,-1.04365888,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582G,NP_000240:p.Leu582Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.27836,5.62551,5.694968686522481,Destabilizing,Destabilizing,False,0.032,-0.1604,,,-0.02141,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.3101,1.2551,-8.7547,loss_of_function,-4.69639474650671,0.3935343154860235,,,0.9574,pathogenic,-1.463196092,destabilizing,-1.157204134,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582H,NP_000240:p.Leu582His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.36814,3.57245,3.359727236666239,Destabilizing,Destabilizing,False,0.032,0.02922,,,0.06763,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1779284,Pathogenic,1,93.65,H,-0.3454,1.2551,-22.0426,loss_of_function,-4.52482695637451,0.4147145255843764,,,0.9616,pathogenic,-1.508922041,destabilizing,-1.110696776,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582I,NP_000240:p.Leu582Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09472,1.0119,1.684543633457637,Neutral,Neutral,False,0.032,-0.06342,,,0.0506,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.65,H,-0.0785,1.2551,-2.7105,loss_of_function,-0.455414959637432,0.9170873835738346,,,0.0852,benign,0.025197513,neutral,0.032837112,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582K,NP_000240:p.Leu582Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.45502,6.14694,5.761494817517403,Destabilizing,Destabilizing,False,0.032,-0.09066,,,0.02077,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.65,H,-0.3238,1.2551,-8.7547,loss_of_function,-4.69639474650671,0.3935343154860235,,,0.9841,pathogenic,-1.345949051,destabilizing,-0.943221504,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582M,NP_000240:p.Leu582Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30769,0.82551,2.3594425591634773,Neutral,Uncertain,False,0.032,-0.08966,,,-0.12739,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.65,H,-0.1245,1.2551,-7.1699,loss_of_function,-2.96799655826311,0.6069067482276473,,,0.2525,benign,0.006324981,neutral,-0.1971895,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582N,NP_000240:p.Leu582Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.60065,3.15204,3.617831673963124,Destabilizing,Destabilizing,False,0.032,-0.06316,,,0.01887,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.3708,1.2551,-22.0426,loss_of_function,-3.10992272183896,0.5893858256775963,,,0.9737,pathogenic,-1.439655257,destabilizing,-1.020392984,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582P,NP_000240:p.Leu582Pro,"hg19,3:g.37089023T>C",,,0.957,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.49045,8.54286,9.096989302161871,Destabilizing,Destabilizing,False,0.032,-0.16508,,,-0.00824,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89871,Pathogenic,3,93.65,H,-0.3864,1.2551,-22.0426,loss_of_function,-4.69639474650671,0.3935343154860235,,,0.9307,pathogenic,-1.339101747,destabilizing,-1.097127385,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582Q,NP_000240:p.Leu582Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43997,2.87687,3.4897142170315885,Uncertain,Destabilizing,False,0.032,-0.0795,,,0.00792,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.256,1.2551,-8.7547,loss_of_function,-4.15253771912445,0.4606739930125921,,,0.9363,pathogenic,-1.507042061,destabilizing,-1.095312624,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582R,NP_000240:p.Leu582Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.2149,5.3398,4.58610278970671,Destabilizing,Destabilizing,False,0.032,-0.00386,,,-0.05713,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1779288,Likely pathogenic,1,93.65,H,-0.3832,1.2551,-22.0426,loss_of_function,-4.69639474650671,0.3935343154860235,,,0.9613,pathogenic,-1.212546058,destabilizing,-1.052836234,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582S,NP_000240:p.Leu582Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.32552,5.02075,4.596943742112027,Destabilizing,Destabilizing,False,0.032,-0.14672,,,0.03159,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.2575,1.2551,-7.1699,loss_of_function,-2.82129642201045,0.6250170223350083,,,0.8797,pathogenic,-1.023383957,destabilizing,-0.886925822,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582T,NP_000240:p.Leu582Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73302,3.77313,3.477135813685388,Destabilizing,Destabilizing,False,0.032,-0.07988,,,-0.04386,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.65,H,-0.3061,1.2551,-22.0426,loss_of_function,-3.90976286241898,0.49064478454436644,,,0.6943,pathogenic,-0.108851239,destabilizing,-0.375567286,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582V,NP_000240:p.Leu582Val,"hg19,3:g.37089022C>G, hg38,3:g.37047531C>G",,,0.634,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.4571,1.96769,2.170839697259796,Uncertain,Uncertain,False,0.032,-0.03178,,,-0.06069,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89869,Conflicting classifications of pathogenicity,1,93.65,H,-0.1199,1.2551,-3.7105,loss_of_function,-0.30611378178988,0.9355187587888798,,,0.0826,benign,0.163932248,stabilizing,0.035975599,neutral,https://doi.org/10.1101/2022.10.22.513328 +L582W,NP_000240:p.Leu582Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.93865,5.61497,3.715940119321527,Destabilizing,Destabilizing,False,0.032,0.05798,,,0.45121,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.65,H,-0.3356,1.2551,-22.0426,loss_of_function,-4.52482695637451,0.4147145255843764,,,0.9433,pathogenic,-1.309934824,destabilizing,-0.941022217,damaging,https://doi.org/10.1101/2022.10.22.513328 +L582Y,NP_000240:p.Leu582Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99547,3.70034,3.5419619605137176,Uncertain,Uncertain,False,0.032,0.02774,,,-0.01309,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.65,H,-0.3285,1.2551,-22.0426,loss_of_function,-4.52482695637451,0.4147145255843764,,,0.9479,pathogenic,-1.494190947,destabilizing,-1.198935303,damaging,https://doi.org/10.1101/2022.10.22.513328 +F583A,NP_000240:p.Phe583Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.47902,1.96224,2.278756388829497,Neutral,Uncertain,False,0.056,-0.01444,,,0.00825,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.0917,3.0276,-6.7549,loss_of_function,-2.03700917118809,0.7218380441426412,,,0.2671,benign,-0.107850366,destabilizing,-0.002821873,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583C,NP_000240:p.Phe583Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87556,2.86361,2.631630928315121,Uncertain,Uncertain,False,0.056,0.03566,,,0.02989,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.07,3.0276,-8.7547,loss_of_function,-3.04423459974888,0.5974950880616492,,,0.2045,benign,-0.165643519,destabilizing,-0.054391265,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583D,NP_000240:p.Phe583Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17056,3.07041,2.805842561439541,Uncertain,Uncertain,False,0.056,-0.02382,,,-0.0555,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.2105,3.0276,-5.9475,loss_of_function,-1.90980908627065,0.7375410179992362,,,0.5417,ambiguous,-0.28498842,destabilizing,-0.242498504,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583E,NP_000240:p.Phe583Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2957,1.93197,2.519087755337644,Neutral,Uncertain,False,0.056,0.00124,,,-0.01012,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1726,3.0276,-4.507,loss_of_function,-1.61305957669057,0.7741750327793196,,,0.5174,ambiguous,-0.173249476,destabilizing,-0.140432901,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583G,NP_000240:p.Phe583Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39073,3.06429,2.977762850534887,Uncertain,Uncertain,False,0.056,-0.049,,,0.01816,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1271,3.0276,-6.7549,loss_of_function,-1.58733074344099,0.7773512821988156,,,0.4531,ambiguous,-0.217871951,destabilizing,0.049413111,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583H,NP_000240:p.Phe583His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89252,1.39456,1.5156150945476317,Neutral,Neutral,False,0.056,-0.01286,,,0.00626,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.11,3.0276,-4.9475,loss_of_function,-0.464886793342708,0.9159180765160249,,,0.2512,benign,-0.299581661,destabilizing,-0.013500008,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583I,NP_000240:p.Phe583Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91438,2.0949,1.5692443807583256,Uncertain,Neutral,False,0.056,0.095,,,-0.02081,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.0356,3.0276,-6.7549,loss_of_function,-2.25867436428219,0.6944732610583144,,,0.1777,benign,-0.099281518,destabilizing,-0.054399903,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583K,NP_000240:p.Phe583Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77928,1.79218,2.017477984813999,Neutral,Uncertain,False,0.056,-0.01066,,,-0.10596,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1745,3.0276,-3.5454,loss_of_function,-1.51252585270152,0.7865860185151454,,,0.4928,ambiguous,-0.098958105,destabilizing,-0.129970755,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583L,NP_000240:p.Phe583Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02819,1.31973,1.0894241543293877,Neutral,Neutral,False,0.056,0.0017,,,0.13752,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,0.0074,3.0276,-5.7549,gain_of_function,-1.61431766928575,0.7740197200281992,,,0.6651,pathogenic,-0.151952381,destabilizing,0.059334478,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583M,NP_000240:p.Phe583Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06058,1.33673,1.51056072231648,Neutral,Neutral,False,0.056,-0.00604,,,0.05458,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.0339,3.0276,-7.7548,loss_of_function,-2.34827103589586,0.6834124650462632,,,0.4135,ambiguous,-0.16183408,destabilizing,0.093746436,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583N,NP_000240:p.Phe583Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.2643,2.38673,2.2748561553154376,Uncertain,Uncertain,False,0.056,-0.01346,,,0.02459,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1464,3.0276,-7.1699,loss_of_function,-2.54274098776264,0.6594049608685782,,,0.3973,ambiguous,-0.230666181,destabilizing,0.002701278,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583P,NP_000240:p.Phe583Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64195,3.18878,5.373533027589496,Uncertain,Uncertain,False,0.056,0.02632,,,-0.01128,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.2202,3.0276,-7.7548,loss_of_function,-3.70745986201685,0.515619286161148,,,0.786,pathogenic,-0.611607463,destabilizing,-0.625697023,damaging,https://doi.org/10.1101/2022.10.22.513328 +F583Q,NP_000240:p.Phe583Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33416,2.17789,2.259714892988841,Uncertain,Uncertain,False,0.056,-0.0151,,,0.00859,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1434,3.0276,-6.1699,loss_of_function,-2.05814518790617,0.7192287823786103,,,0.447,ambiguous,-0.221809532,destabilizing,-0.11954426,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583R,NP_000240:p.Phe583Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17666,1.00714,1.5825252738796391,Neutral,Neutral,False,0.056,-0.01912,,,-0.01022,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1707,3.0276,-2.5261,loss_of_function,-1.24026627323481,0.8201967276695314,,,0.3371,benign,-0.172349884,destabilizing,0.07821531,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583S,NP_000240:p.Phe583Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99652,2.66905,2.6076169034561123,Uncertain,Uncertain,False,0.056,0.00912,,,-0.03458,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.0656,3.0276,-5.7549,loss_of_function,-2.19528396433669,0.7022988674150189,,,0.1954,benign,-0.20917368,destabilizing,-0.037568525,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583T,NP_000240:p.Phe583Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82265,2.22755,2.342530172026357,Uncertain,Uncertain,False,0.056,-0.02862,,,-0.01418,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.1153,3.0276,-6.4329,loss_of_function,-2.17499591430615,0.7048034468690156,,,0.2989,benign,-0.249298388,destabilizing,-0.106769703,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583V,NP_000240:p.Phe583Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.7816,2.07789,1.7230799443684788,Uncertain,Neutral,False,0.056,0.1029,,,-0.14233,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.73,H,-0.0225,3.0276,-5.2954,loss_of_function,-1.83634045958442,0.7466107912221284,,,0.165,benign,-0.08653908,destabilizing,-0.113039937,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583W,NP_000240:p.Phe583Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23903,0.17585,0.2348534501564037,Neutral,Neutral,False,0.056,0.0462,,,-0.05496,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.73,H,-0.0932,3.0276,-22.0426,loss_of_function,-2.36749046728939,0.6810398075994769,,,0.2761,benign,-0.167393953,destabilizing,-0.045682389,neutral,https://doi.org/10.1101/2022.10.22.513328 +F583Y,NP_000240:p.Phe583Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08334,0.12721,0.5932747865785265,Neutral,Neutral,False,0.056,-0.00326,,,0.03928,,,Uncertain,Neutral,Uncertain,46.6,,False,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.73,H,0.0423,3.0276,-1.6996,gain_of_function,-0.2251417936045,0.9455148292664804,,,0.0719,benign,-0.124385247,destabilizing,0.082344258,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584A,NP_000240:p.Asp584Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0085,0.03027,0.3082527549345509,Neutral,Neutral,False,0.105,0.02888,,,-0.03828,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.07,H,-0.0686,2.1304,-5.7649,loss_of_function,-1.81956121625039,0.7486822050861893,,,0.2077,benign,-0.033039353,neutral,-0.211876419,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584C,NP_000240:p.Asp584Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31178,0.9,1.0175339678492792,Neutral,Neutral,False,0.105,0.01574,,,0.15286,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.07,H,-0.1932,2.1304,-22.0526,loss_of_function,-2.60113593806806,0.6521960476151136,,,0.5446,ambiguous,0.130731462,stabilizing,-0.170642635,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584E,NP_000240:p.Asp584Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55576,-0.12551,0.0353666559366844,Neutral,Neutral,False,0.105,-0.18788,,,-0.01422,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,237321,Uncertain significance,2,93.07,H,0.0072,2.1304,-1.6988,gain_of_function,-0.0526887464510184,0.9668043252027365,,,0.1123,benign,-0.011149933,neutral,0.040924995,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584F,NP_000240:p.Asp584Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.96013,-0.68912,-0.3205092065860215,Neutral,Neutral,False,0.105,-1.07662,,,-0.93756,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.2519,2.1304,-22.0526,loss_of_function,-3.03380707137633,0.5987823765530785,,,0.6328,pathogenic,0.159973993,stabilizing,-0.369120617,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584G,NP_000240:p.Asp584Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93739,1.27925,1.2502393164226344,Neutral,Neutral,False,0.105,0.3121,,,-0.321,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.07,H,-0.0807,2.1304,-5.9575,loss_of_function,-0.687042703488102,0.8884927139357607,,,0.2195,benign,-0.12857191,destabilizing,-0.053891569,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584H,NP_000240:p.Asp584His,"hg19,3:g.37089028G>C, hg38,3:g.37047537G>C",,,0.778,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24422,-0.15612,-0.1568336275171877,Neutral,Neutral,False,0.105,-0.35154,,,0.0851,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.083,2.1304,-6.7648,loss_of_function,-3.03380707137633,0.5987823765530785,,,0.2246,benign,0.025184559,neutral,-0.045281219,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584I,NP_000240:p.Asp584Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.89106,-0.12823,-0.4262240066643769,Neutral,Neutral,False,0.105,-0.31266,,,-0.32221,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1763,2.1304,-8.7647,loss_of_function,-2.03379001882188,0.7222354516245608,,,0.3943,ambiguous,0.21579296,stabilizing,-0.320014508,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584K,NP_000240:p.Asp584Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63712,-0.08605,0.1504406508306632,Neutral,Neutral,False,0.105,-0.37016,,,-0.36178,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1385,2.1304,-5.5949,loss_of_function,-1.7162361626824,0.7614377831658936,,,0.3818,ambiguous,-0.043636588,neutral,-0.082982628,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584L,NP_000240:p.Asp584Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.771,-0.31871,-0.6183376046869238,Neutral,Neutral,False,0.105,-0.37376,,,-0.4722,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1648,2.1304,-7.7648,loss_of_function,-2.04567386719481,0.720768379016575,,,0.4041,ambiguous,0.063878171,neutral,-0.221730684,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584M,NP_000240:p.Asp584Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.67347,-0.95102,-0.2201124681133415,Neutral,Neutral,False,0.105,-0.82762,,,-0.01901,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1087,2.1304,-8.7647,loss_of_function,-2.76625411281329,0.6318120487918745,,,0.6266,pathogenic,0.029468134,neutral,-0.118672885,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584N,NP_000240:p.Asp584Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38769,0.08435,0.2819282608972939,Neutral,Neutral,False,0.105,0.12474,,,-0.23183,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.07,H,-0.0374,2.1304,-6.1799,loss_of_function,-0.993224375789584,0.8506942895193044,,,0.1298,benign,-0.052954259,neutral,0.020731949,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584P,NP_000240:p.Asp584Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.63814,5.05408,3.3016370707717404,Uncertain,Uncertain,False,0.105,-0.1011,,,0.06597,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.07,H,-0.2887,2.1304,-22.0526,loss_of_function,-3.14903585867262,0.5845572709989807,,,0.7304,pathogenic,-0.088284531,destabilizing,-0.038647699,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584Q,NP_000240:p.Asp584Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.75853,0.01667,0.2803756007967251,Neutral,Neutral,False,0.105,-0.07312,,,-0.46759,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.0939,2.1304,-5.4429,loss_of_function,-0.385548442817053,0.9257124728400394,,,0.2628,benign,0.021683812,neutral,-0.097371829,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584R,NP_000240:p.Asp584Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36572,0.29218,-0.016561946599688,Neutral,Neutral,False,0.105,-0.08004,,,-0.17132,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1776,2.1304,-7.1799,loss_of_function,-1.99812534849575,0.7266382897680951,,,0.3643,ambiguous,-0.090511632,destabilizing,-0.192904294,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584S,NP_000240:p.Asp584Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13513,0.51735,0.588464283069239,Neutral,Neutral,False,0.105,0.37256,,,0.02806,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.07,H,-0.076,2.1304,-5.9575,loss_of_function,-1.74024499504523,0.7584738695241253,,,0.1211,benign,-0.022267734,neutral,-0.007000323,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584T,NP_000240:p.Asp584Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11308,-0.04388,0.2994994143588064,Neutral,Neutral,False,0.105,0.13834,,,0.12926,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.07,H,-0.0973,2.1304,-4.2413,loss_of_function,-0.9991868155149,0.8499582205521419,,,0.2478,benign,0.02341042,neutral,-0.134585099,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584V,NP_000240:p.Asp584Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16505,-0.49388,-0.1990707271828212,Neutral,Neutral,False,0.105,-0.26,,,0.09737,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.1229,2.1304,-7.1799,loss_of_function,-2.00946290490645,0.7252386574327044,,,0.2343,benign,0.040078541,neutral,-0.272610418,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584W,NP_000240:p.Asp584Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.00113,-1.44796,-0.7177861019888421,Neutral,Neutral,False,0.105,-1.10718,,,-0.12605,,,Uncertain,Uncertain,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.07,H,-0.2323,2.1304,-22.0526,loss_of_function,-3.03380707137633,0.5987823765530785,,,0.8724,pathogenic,0.455449267,stabilizing,-0.212997681,neutral,https://doi.org/10.1101/2022.10.22.513328 +D584Y,NP_000240:p.Asp584Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.90041,-0.86224,-0.298519797573813,Neutral,Neutral,False,0.105,-0.25442,,,-0.27816,,,Uncertain,Neutral,Uncertain,69.6,,False,69.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1411633,Uncertain significance,1,93.07,H,-0.1289,2.1304,-8.7647,loss_of_function,-3.03380707137633,0.5987823765530785,,,0.2468,benign,0.152290734,stabilizing,-0.035667901,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585A,NP_000240:p.Leu585Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.23586,3.53537,3.069231046507652,Destabilizing,Destabilizing,True,0.199,0.88072,,,-0.38194,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.2851,0.6583,-7.7615,loss_of_function,-3.45912705291938,0.5462762123064677,,,0.7632,pathogenic,-0.076312866,neutral,-0.090710972,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585C,NP_000240:p.Leu585Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.42931,3.1466,3.154191239668221,Destabilizing,Destabilizing,True,0.199,0.62912,,,0.17409,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.2692,0.6583,-6.7615,loss_of_function,-4.82411908719986,0.3777666217454326,,,0.8137,pathogenic,-0.030949291,neutral,-0.073406576,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585D,NP_000240:p.Leu585Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.97085,4.37653,4.108819662102993,Destabilizing,Destabilizing,True,0.199,1.34942,,,0.47938,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.4117,0.6583,-8.7614,loss_of_function,-5.69076815508745,0.27077795373696256,,,0.9952,pathogenic,-1.416137395,destabilizing,-1.091479888,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585E,NP_000240:p.Leu585Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.818,3.32687,3.501223506632364,Destabilizing,Destabilizing,True,0.199,1.45672,,,0.86292,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.4476,0.6583,-22.0493,loss_of_function,-5.69076815508745,0.27077795373696256,,,0.9658,pathogenic,-1.012596578,destabilizing,-0.659371501,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585F,NP_000240:p.Leu585Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82647,1.58469,1.7256198559321938,Neutral,Neutral,True,0.199,1.29428,,,0.85483,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1982179,Uncertain significance,1,92.81,H,-0.2155,0.6583,-7.1765,loss_of_function,-2.49767236196016,0.6649687264367251,,,0.5921,pathogenic,0.218458799,stabilizing,-0.174279259,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585G,NP_000240:p.Leu585Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.23157,5.25102,4.902256527402089,Destabilizing,Destabilizing,True,0.199,1.0438,,,-0.54748,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.4328,0.6583,-22.0493,loss_of_function,-4.21993522449873,0.45235370560414456,,,0.9607,pathogenic,-0.900204647,destabilizing,-0.839847814,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585H,NP_000240:p.Leu585His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97515,3.01837,2.715249951639065,Uncertain,Uncertain,True,0.199,0.99652,,,0.28187,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.4004,0.6583,-22.0493,loss_of_function,-5.03195233781895,0.3521094053754831,,,0.9337,pathogenic,-0.100322888,destabilizing,-0.292134555,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585I,NP_000240:p.Leu585Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04224,2.07143,1.1648327764154311,Uncertain,Neutral,True,0.199,0.68904,,,0.51634,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.81,H,-0.1511,0.6583,-6.1766,loss_of_function,-0.981490833735343,0.8521428066664635,,,0.2123,benign,0.175329172,stabilizing,-0.079183117,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585K,NP_000240:p.Leu585Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29085,3.81973,4.051649179763172,Uncertain,Uncertain,True,0.199,1.03318,,,0.17713,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.81,H,-0.4466,0.6583,-22.0493,loss_of_function,-5.48293490446835,0.2964351701069133,,,0.9677,pathogenic,-1.129919369,destabilizing,-0.491916911,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585M,NP_000240:p.Leu585Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44599,1.40272,1.316322880679757,Neutral,Neutral,True,0.199,0.95502,,,0.87929,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.81,H,-0.1723,0.6583,-5.7615,loss_of_function,-2.11804771723907,0.7118337570319765,,,0.2186,benign,-0.063327854,neutral,-0.069226492,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585N,NP_000240:p.Leu585Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.14712,3.18129,2.868923507184672,Destabilizing,Uncertain,True,0.199,0.8595,,,0.11791,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.4258,0.6583,-22.0493,loss_of_function,-5.69076815508745,0.27077795373696256,,,0.9653,pathogenic,-0.107656745,destabilizing,-0.018959923,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585P,NP_000240:p.Leu585Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99602,11.11361,8.229002274372538,Destabilizing,Destabilizing,True,0.199,1.42938,,,0.24692,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,483581,Conflicting classifications of pathogenicity,1,92.81,H,-0.4414,0.6583,-22.0493,loss_of_function,-5.69076815508745,0.27077795373696256,,,0.9943,pathogenic,-1.463063036,destabilizing,-0.93865129,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585Q,NP_000240:p.Leu585Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05988,2.55476,2.6356138604837684,Uncertain,Uncertain,True,0.199,1.17738,,,-0.02445,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.3787,0.6583,-22.0493,loss_of_function,-5.69076815508745,0.27077795373696256,,,0.8959,pathogenic,-0.117971183,destabilizing,0.024113982,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585R,NP_000240:p.Leu585Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.93302,3.26803,3.044891848385456,Uncertain,Uncertain,True,0.199,1.92652,,,0.6655,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1779452,Uncertain significance,1,92.81,H,-0.3653,0.6583,-7.7615,loss_of_function,-4.90183658190338,0.36817232164475633,,,0.932,pathogenic,-1.390600421,destabilizing,-1.004816627,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585S,NP_000240:p.Leu585Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.85681,4.20306,4.077196523347879,Destabilizing,Destabilizing,True,0.199,1.00128,,,-0.08755,,,,Uncertain,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.3884,0.6583,-22.0493,loss_of_function,-3.50300483104981,0.5408594580384589,,,0.9018,pathogenic,-0.287036977,destabilizing,-0.193700275,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585T,NP_000240:p.Leu585Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43925,3.62313,3.08191305004094,Destabilizing,Destabilizing,True,0.199,0.48524,,,0.25041,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.2814,0.6583,-6.4396,loss_of_function,-3.52443922166663,0.5382133617272307,,,0.7467,pathogenic,-0.173120293,destabilizing,-0.27020456,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585V,NP_000240:p.Leu585Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.32649,2.68912,1.7260418937009685,Uncertain,Uncertain,True,0.199,0.50554,,,0.12005,,,,Neutral,,12.4,,False,12.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.81,H,-0.1887,0.6583,-6.4396,loss_of_function,-1.7871859927457,0.7526789578291261,,,0.2075,benign,0.045289824,neutral,-0.046718141,neutral,https://doi.org/10.1101/2022.10.22.513328 +L585W,NP_000240:p.Leu585Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91853,2.05544,2.266731222397369,Uncertain,Uncertain,True,0.199,4.40546,,,1.06089,,,,Destabilizing,,12.4,,False,12.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.81,H,-0.3906,0.6583,-22.0493,loss_of_function,-5.03195233781895,0.3521094053754831,,,0.8907,pathogenic,-0.433561839,destabilizing,-0.982799436,damaging,https://doi.org/10.1101/2022.10.22.513328 +L585Y,NP_000240:p.Leu585Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88032,1.78878,2.399357401582776,Uncertain,Uncertain,True,0.199,3.8234,,,1.45981,,,,Destabilizing,,12.4,,False,12.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.81,H,-0.3835,0.6583,-22.0493,loss_of_function,-4.72989254428392,0.38939897986034033,,,0.925,pathogenic,-0.132362442,destabilizing,-0.001730006,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586C,NP_000240:p.Ala586Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.9731,2.2466,1.426295277690783,Uncertain,Neutral,True,0.237,0.00458,,,0.05559,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1255,2.3265,-22.0459,loss_of_function,-2.50610569116431,0.6639276237668427,,,0.5791,pathogenic,-0.257772301,destabilizing,-0.096705222,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586D,NP_000240:p.Ala586Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.99105,5.06701,4.364078938222793,Destabilizing,Destabilizing,True,0.237,0.01916,,,0.04483,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89877,Conflicting classifications of pathogenicity,1,92.66,H,-0.2073,2.3265,-22.0459,loss_of_function,-3.58120169245252,0.5312059796538217,,,0.9845,pathogenic,-1.049951996,destabilizing,-0.933639813,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586E,NP_000240:p.Ala586Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.79878,7.41769,4.973828795198729,Destabilizing,Destabilizing,True,0.237,-0.08378,,,0.05883,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1251,2.3265,-8.7581,loss_of_function,-3.58120169245252,0.5312059796538217,,,0.9673,pathogenic,-1.442122747,destabilizing,-1.028616715,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586F,NP_000240:p.Ala586Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.00712,7.3415,4.864938823492615,Destabilizing,Destabilizing,True,0.237,0.14526,,,-0.00334,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.0925,2.3265,-5.7582,loss_of_function,-2.07768816764674,0.7168161825745669,,,0.9201,pathogenic,0.410504649,stabilizing,-0.583169454,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586G,NP_000240:p.Ala586Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.03014,2.26122,3.15437976974277,Uncertain,Uncertain,True,0.237,0.02516,,,0.03648,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.66,H,-0.0512,2.3265,-8.7581,loss_of_function,-2.91452334253602,0.6135080685737426,,,0.3993,ambiguous,0.264307732,stabilizing,-0.162195081,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586H,NP_000240:p.Ala586His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.07258,7.68163,4.914562524163439,Destabilizing,Destabilizing,True,0.237,0.00712,,,-0.09628,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1798,2.3265,-22.0459,loss_of_function,-3.38149980044179,0.5558593719168254,,,0.986,pathogenic,-1.337232316,destabilizing,-0.974799884,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586I,NP_000240:p.Ala586Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89656,2.87381,1.5371403192014583,Uncertain,Uncertain,True,0.237,0.01864,,,0.08237,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.0702,2.3265,-3.4363,loss_of_function,-0.958140043961089,0.8550254843124253,,,0.5221,ambiguous,-0.246894622,destabilizing,0.158931706,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586K,NP_000240:p.Ala586Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.41667,11.03061,6.969144629689874,Destabilizing,Destabilizing,True,0.237,0.07278,,,-0.00282,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1196,2.3265,-6.7582,loss_of_function,-2.70876352481058,0.638909317641913,,,0.9946,pathogenic,-1.210368304,destabilizing,-1.000507265,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586L,NP_000240:p.Ala586Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.03805,4.82891,2.195010877648692,Destabilizing,Uncertain,True,0.237,0.0022,,,0.08569,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.0689,2.3265,-2.2504,loss_of_function,-1.44242414737778,0.7952401420302037,,,0.5186,ambiguous,-0.218766236,destabilizing,-0.075756238,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586M,NP_000240:p.Ala586Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.28909,5.25102,2.759968773450236,Uncertain,Uncertain,True,0.237,0.00284,,,-0.04104,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.0477,2.3265,-6.1732,loss_of_function,-1.53979661002757,0.7832194170728709,,,0.5908,pathogenic,-0.133228744,destabilizing,-0.114633483,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586N,NP_000240:p.Ala586Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.00239,3.2602,2.3968096898695115,Destabilizing,Uncertain,True,0.237,0.03978,,,0.03888,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1776,2.3265,-22.0459,loss_of_function,-2.67450521126453,0.643138539676897,,,0.9403,pathogenic,-0.820688669,destabilizing,-0.897227903,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586P,NP_000240:p.Ala586Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.55306,9.38129,7.099146403558787,Destabilizing,Destabilizing,True,0.237,0.11656,,,-0.13647,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.247,2.3265,-22.0459,loss_of_function,-3.91757421615125,0.4896804653497522,,,0.9865,pathogenic,-1.2531462,destabilizing,-0.943804022,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586Q,NP_000240:p.Ala586Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.63016,6.31939,3.5645487024391347,Destabilizing,Destabilizing,True,0.237,0.01144,,,-0.03948,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1022,2.3265,-7.7582,loss_of_function,-3.58120169245252,0.5312059796538217,,,0.961,pathogenic,-1.14075256,destabilizing,-1.125488689,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586R,NP_000240:p.Ala586Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.36522,10.89388,6.0224507472684286,Destabilizing,Destabilizing,True,0.237,0.1513,,,0.08,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1324,2.3265,-7.1732,loss_of_function,-3.62783869467719,0.5254485964951604,,,0.9884,pathogenic,-1.478908453,destabilizing,-1.102190866,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586S,NP_000240:p.Ala586Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05921,1.77313,2.176575817621039,Neutral,Uncertain,True,0.237,0.0101,,,-0.0339,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.66,H,0.0015,2.3265,-4.0578,gain_of_function,-0.238323717905898,0.9438875079260992,,,0.1553,benign,0.047071827,neutral,-0.056195924,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586T,NP_000240:p.Ala586Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67943,3.1483,1.5293368648706978,Uncertain,Neutral,True,0.237,0.01768,,,0.02923,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1779478,Uncertain significance,1,92.66,H,-0.0962,2.3265,-22.0459,loss_of_function,-1.61172540587156,0.7743397374609615,,,0.1903,benign,-0.259628158,destabilizing,-0.005671223,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586V,NP_000240:p.Ala586Val,"hg19,3:g.37089035C>T",,,0.559,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1005,1.15272,0.5914492511866145,Neutral,Neutral,True,0.237,0.0225,,,-0.02971,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,999218,Uncertain significance,2,92.66,H,0.0046,2.3265,-2.8756,gain_of_function,-0.75400643160996,0.8802259767498527,,,0.2085,benign,-0.26656374,destabilizing,0.002308288,neutral,https://doi.org/10.1101/2022.10.22.513328 +A586W,NP_000240:p.Ala586Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),26.83378,13.27041,6.909619144245253,Destabilizing,Destabilizing,True,0.237,0.05892,,,-0.10683,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1866,2.3265,-22.0459,loss_of_function,-3.38149980044179,0.5558593719168254,,,0.9948,pathogenic,-1.404899467,destabilizing,-1.095394099,damaging,https://doi.org/10.1101/2022.10.22.513328 +A586Y,NP_000240:p.Ala586Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),15.27646,7.88265,5.952770057359149,Destabilizing,Destabilizing,True,0.237,-0.01448,,,-0.01352,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.66,H,-0.1948,2.3265,-22.0459,loss_of_function,-3.38149980044179,0.5558593719168254,,,0.9791,pathogenic,-0.829714963,destabilizing,-0.935807202,damaging,https://doi.org/10.1101/2022.10.22.513328 +M587A,NP_000240:p.Met587Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.84284,1.65238,1.122342142172707,Neutral,Neutral,True,0.213,0.00014,,,-0.06539,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.0555,2.7935,-4.7582,loss_of_function,-2.85315237380823,0.62108437418794,,,0.5432,ambiguous,0.053997136,neutral,-0.309887685,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587C,NP_000240:p.Met587Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25552,1.42177,1.4233563448289637,Uncertain,Uncertain,True,0.213,0.0536,,,-0.11749,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1492,2.7935,-22.0459,loss_of_function,-3.88940928318526,0.49315745364205366,,,0.7473,pathogenic,0.855138054,stabilizing,0.148436757,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587D,NP_000240:p.Met587Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2291,2.69218,1.725087834199882,Uncertain,Uncertain,True,0.213,-0.2995,,,-0.02796,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1771,2.7935,-6.7582,loss_of_function,-2.69671600036409,0.6403965962199323,,,0.9357,pathogenic,-0.593316674,destabilizing,-0.907796667,damaging,https://doi.org/10.1101/2022.10.22.513328 +M587E,NP_000240:p.Met587Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.96489,1.88605,1.1979339136271283,Neutral,Neutral,True,0.213,-0.10296,,,0.01228,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1599,2.7935,-5.2988,loss_of_function,-2.66649303406654,0.6441276507231365,,,0.6036,pathogenic,-0.033693116,neutral,-0.319973645,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587F,NP_000240:p.Met587Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69063,1.41259,-0.1212658851254122,Neutral,Neutral,True,0.213,-0.04038,,,0.01189,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.9,H,-0.1487,2.7935,-22.0459,loss_of_function,-4.01618555507319,0.47750679991501516,,,0.5193,ambiguous,0.117560751,stabilizing,-0.338338796,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587G,NP_000240:p.Met587Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.82652,3.0085,2.2079989891540435,Uncertain,Uncertain,True,0.213,0.01898,,,-0.0393,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1568,2.7935,-8.7581,loss_of_function,-4.09180434160238,0.46817158737403286,,,0.7469,pathogenic,-0.207325081,destabilizing,-0.564439156,damaging,https://doi.org/10.1101/2022.10.22.513328 +M587H,NP_000240:p.Met587His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25488,1.85068,0.5209522216288378,Uncertain,Uncertain,True,0.213,0.00226,,,-0.0528,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1223,2.7935,-6.4363,loss_of_function,-2.81376695458412,0.625946542391748,,,0.7128,pathogenic,-0.053516333,neutral,-0.171391591,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587I,NP_000240:p.Met587Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21682,0.12959,-0.4055167530598091,Neutral,Neutral,True,0.213,0.02204,,,0.06255,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,-,-,uncertain,neutral,853362,Uncertain significance,2,91.9,H,0.0257,2.7935,-5.0578,gain_of_function,-0.470860215119471,0.9151806518039596,,,0.3831,ambiguous,0.047263765,neutral,-0.016020955,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587K,NP_000240:p.Met587Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96125,1.44966,1.1123165257944168,Neutral,Neutral,True,0.213,0.06852,,,-0.06436,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.9,H,-0.119,2.7935,-4.9509,loss_of_function,-2.57397991664676,0.6555484847986625,,,0.2933,benign,-0.073140852,neutral,0.10476696,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587L,NP_000240:p.Met587Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18433,-0.40918,-0.6973826890119911,Neutral,Neutral,True,0.213,0.06388,,,-0.00362,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.9,H,0.0685,2.7935,-3.1435,gain_of_function,-0.453099229154814,0.9173732627479804,,,0.101,benign,0.067817008,neutral,0.192104693,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587N,NP_000240:p.Met587Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91076,1.78469,1.0787488321067429,Neutral,Neutral,True,0.213,-0.0076,,,-0.08389,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1171,2.7935,-6.4363,loss_of_function,-2.66521819336335,0.6442850310444351,,,0.713,pathogenic,0.342913998,stabilizing,-0.146618877,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587P,NP_000240:p.Met587Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.43168,7.5949,5.785810493324523,Destabilizing,Destabilizing,True,0.213,0.08334,,,0.09526,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.3146,2.7935,-22.0459,loss_of_function,-4.77458513744612,0.3838816358863565,,,0.9788,pathogenic,-1.394493859,destabilizing,-1.112340502,damaging,https://doi.org/10.1101/2022.10.22.513328 +M587Q,NP_000240:p.Met587Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61131,1.47653,0.8038146643939522,Neutral,Neutral,True,0.213,0.01658,,,0.03368,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.1002,2.7935,-4.6708,loss_of_function,-2.5231938676562,0.6618180718048042,,,0.3912,ambiguous,-0.085946096,destabilizing,-0.126255187,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587R,NP_000240:p.Met587Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44334,0.48571,0.6537457452243167,Neutral,Neutral,True,0.213,0.16572,,,-0.09398,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.9,H,-0.1391,2.7935,-3.5488,loss_of_function,-2.49383772926685,0.66544211556199,,,0.3097,benign,-0.205363867,destabilizing,0.028544373,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587S,NP_000240:p.Met587Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.2827,2.13333,1.568868931318815,Uncertain,Uncertain,True,0.213,-0.03474,,,0.10508,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.9,H,-0.0868,2.7935,-4.7582,loss_of_function,-2.89930219369809,0.6153871341610376,,,0.5652,pathogenic,0.135636035,stabilizing,-0.109379012,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587T,NP_000240:p.Met587Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20198,1.73639,0.9742826070406074,Uncertain,Uncertain,True,0.213,0.03644,,,-0.01089,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89881,Uncertain significance,2,91.9,H,-0.0239,2.7935,-4.2347,loss_of_function,-2.38788300467072,0.6785223290806811,,,0.3553,ambiguous,-0.054511903,neutral,-0.142914926,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587V,NP_000240:p.Met587Val,"hg19,3:g.37089037A>G, hg38,3:g.37047546A>G",,3.9797827039e-06,0.648,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35793,0.5898,0.0279084824690561,Neutral,Neutral,True,0.213,0.03866,,,-0.00667,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,629891,Uncertain significance,2,91.9,H,-0.0063,2.7935,-5.0578,loss_of_function,-1.47082715449029,0.7917337632536021,,,0.0942,benign,0.153788942,stabilizing,-0.053738758,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587W,NP_000240:p.Met587Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28858,1.25952,-0.153291403800343,Neutral,Neutral,True,0.213,-0.23402,,,-0.03584,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.9,H,-0.2115,2.7935,-22.0459,loss_of_function,-4.01618555507319,0.47750679991501516,,,0.8006,pathogenic,0.420315898,stabilizing,-0.291210415,neutral,https://doi.org/10.1101/2022.10.22.513328 +M587Y,NP_000240:p.Met587Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00963,1.34864,0.2507092187772286,Neutral,Neutral,True,0.213,0.0114,,,-0.00405,,,Uncertain,Neutral,Uncertain,30.2,,True,30.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.9,H,-0.1181,2.7935,-7.7582,loss_of_function,-2.91279352476264,0.6137216162556463,,,0.774,pathogenic,0.178048295,stabilizing,0.162426544,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588A,NP_000240:p.Leu588Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37459,0.34456,0.5837974201605369,Neutral,Neutral,False,0.151,2.4183,,,0.61023,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.1844,1.6967,-6.7549,loss_of_function,-2.91370700892599,0.6136088457496768,,,0.5701,pathogenic,0.026809189,neutral,0.19288243,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588C,NP_000240:p.Leu588Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06117,1.00374,1.4035758188937,Neutral,Neutral,False,0.151,2.04568,,,0.76417,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.172,1.6967,-6.4329,loss_of_function,-2.97688010580083,0.6058100656678111,,,0.7736,pathogenic,-0.09390413,destabilizing,0.023472658,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588D,NP_000240:p.Leu588Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24255,0.93333,0.9680865270732972,Neutral,Neutral,False,0.151,2.58194,,,1.08868,,,Uncertain,Destabilizing,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.3161,1.6967,-8.7547,loss_of_function,-4.24554752987764,0.44919184166330534,,,0.9499,pathogenic,0.14347381,stabilizing,0.049322338,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588E,NP_000240:p.Leu588Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52718,0.58095,0.6107443053762354,Neutral,Neutral,False,0.151,2.11672,,,0.90073,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.2698,1.6967,-5.9475,loss_of_function,-2.76620759457826,0.6318177915131077,,,0.7076,pathogenic,0.07692358,neutral,0.097828216,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588F,NP_000240:p.Leu588Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13743,0.76667,0.3258985006126352,Neutral,Neutral,False,0.151,1.98108,,,0.06781,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,UP,-,neutral,neutral,1779604,Uncertain significance,1,91.45,H,-0.1162,1.6967,-6.4329,loss_of_function,-3.09460571104178,0.5912767255167387,,,0.3488,ambiguous,0.090175156,neutral,-0.221978399,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588G,NP_000240:p.Leu588Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50245,1.63776,1.4155471412099998,Neutral,Neutral,False,0.151,2.58338,,,0.98674,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.2694,1.6967,-8.7547,loss_of_function,-4.13459474934555,0.4628890700349905,,,0.8838,pathogenic,-0.027115353,neutral,0.072471675,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588H,NP_000240:p.Leu588His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25087,0.69966,0.4397307874187728,Neutral,Neutral,False,0.151,2.18454,,,0.39185,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.237,1.6967,-8.7547,loss_of_function,-4.34805448958537,0.4365372580641334,,,0.6232,pathogenic,0.036501306,neutral,-0.012809684,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588I,NP_000240:p.Leu588Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02438,-0.12211,0.0599823393049825,Neutral,Neutral,False,0.151,0.67836,,,0.01076,,,Uncertain,Neutral,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.45,H,-0.0384,1.6967,-2.8242,loss_of_function,-1.52370245545958,0.785206256064285,,,0.1502,benign,-0.023292424,neutral,-0.019100791,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588K,NP_000240:p.Leu588Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21188,0.32585,0.3989423690011073,Neutral,Neutral,False,0.151,1.93236,,,0.57789,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.45,H,-0.351,1.6967,-22.0426,loss_of_function,-4.41047041810438,0.4288319511501855,,,0.7284,pathogenic,-0.205829496,destabilizing,0.034082236,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588M,NP_000240:p.Leu588Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63198,0.18197,0.3653571030424024,Neutral,Neutral,False,0.151,-0.28374,,,0.0621,,,Uncertain,Neutral,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.45,H,-0.0692,1.6967,-4.2955,loss_of_function,-0.775266177981531,0.8776014404400907,,,0.1399,benign,-0.01557817,neutral,-0.075402523,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588N,NP_000240:p.Leu588Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30261,0.58741,0.7612445005824788,Neutral,Neutral,False,0.151,2.21292,,,0.99978,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.3302,1.6967,-22.0426,loss_of_function,-3.24529442120149,0.5726740580919664,,,0.8567,pathogenic,-0.109837213,destabilizing,-0.032262266,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588P,NP_000240:p.Leu588Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.3214,7.70714,7.45194204816255,Destabilizing,Destabilizing,False,0.151,2.87314,,,1.11337,,,Uncertain,Destabilizing,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89882,Uncertain significance,1,91.45,H,-0.3458,1.6967,-22.0426,loss_of_function,-3.53340205799094,0.5371068908897864,,,0.961,pathogenic,-1.084942091,destabilizing,-1.075515353,damaging,https://doi.org/10.1101/2022.10.22.513328 +L588Q,NP_000240:p.Leu588Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22935,0.24966,0.5908480614997208,Neutral,Neutral,False,0.151,2.30524,,,0.65629,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.2832,1.6967,-22.0426,loss_of_function,-3.01731310470292,0.6008185727366913,,,0.4885,ambiguous,-0.069966375,neutral,0.100722676,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588R,NP_000240:p.Leu588Arg,"hg19,3:g.37089041T>G, hg38,3:g.37047550T>G",,,0.947,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03151,0.42687,0.1718044668080248,Neutral,Neutral,False,0.151,2.27634,,,0.49,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.45,H,-0.3426,1.6967,-22.0426,loss_of_function,-4.16361228396874,0.45930682724115485,,,0.5809,pathogenic,-0.206825954,destabilizing,0.110455245,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588S,NP_000240:p.Leu588Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05618,0.73912,1.0358761106990777,Neutral,Neutral,False,0.151,2.71078,,,0.85396,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.2928,1.6967,-22.0426,loss_of_function,-3.07439974101044,0.5937711721152233,,,0.7541,pathogenic,0.054723474,neutral,0.138226426,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588T,NP_000240:p.Leu588Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13742,0.34558,0.7191523865834728,Neutral,Neutral,False,0.151,1.8517,,,0.36711,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.1859,1.6967,-6.4329,loss_of_function,-2.91034045250524,0.614024450405099,,,0.5789,pathogenic,-0.091369299,destabilizing,0.073487978,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588V,NP_000240:p.Leu588Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70435,0.25544,0.358416941086308,Neutral,Neutral,False,0.151,1.32432,,,0.61292,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.45,H,-0.0813,1.6967,-4.111,loss_of_function,-1.63269188621482,0.7717514051268384,,,0.1751,benign,-0.04568084,neutral,-0.177886622,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588W,NP_000240:p.Leu588Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15035,0.01803,-0.165382697333023,Neutral,Neutral,False,0.151,1.67422,,,-0.25823,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.45,H,-0.295,1.6967,-22.0426,loss_of_function,-4.34805448958537,0.4365372580641334,,,0.5511,ambiguous,0.168229717,stabilizing,-0.06501525,neutral,https://doi.org/10.1101/2022.10.22.513328 +L588Y,NP_000240:p.Leu588Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20409,0.34592,0.3390626534159624,Neutral,Neutral,False,0.151,2.73056,,,0.34319,,,Uncertain,Uncertain,Uncertain,71.5,,True,71.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.45,H,-0.2201,1.6967,-8.7547,loss_of_function,-3.13872094367167,0.5858306572604605,,,0.6799,pathogenic,0.111020548,stabilizing,-0.075921864,neutral,https://doi.org/10.1101/2022.10.22.513328 +A589C,NP_000240:p.Ala589Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.67985,2.87789,1.6950820501300323,Uncertain,Uncertain,False,0.104,-0.0137,,,0.13848,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.1774,0.9372,-7.1665,loss_of_function,-1.56731997457168,0.7798216310245187,,,0.8892,pathogenic,0.256086113,stabilizing,-0.355418142,neutral,https://doi.org/10.1101/2022.10.22.513328 +A589D,NP_000240:p.Ala589Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.9815,5.00238,3.922623499616822,Destabilizing,Destabilizing,False,0.104,-0.19286,,,0.01833,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89884,Likely pathogenic,3,90.09,H,-0.3351,0.9372,-22.0393,loss_of_function,-2.96902662617885,0.6067795853443687,,,0.9905,pathogenic,-1.41950519,destabilizing,-1.025111643,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589E,NP_000240:p.Ala589Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.46996,5.26905,4.659750668421374,Destabilizing,Destabilizing,False,0.104,-0.14538,,,0.16053,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2478,0.9372,-7.7515,loss_of_function,-2.95491427990829,0.6085217681792753,,,0.9868,pathogenic,-0.82094669,destabilizing,-0.854634249,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589F,NP_000240:p.Ala589Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.47898,7.80306,3.571735442572894,Destabilizing,Destabilizing,False,0.104,0.06984,,,0.17868,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,820013,Uncertain significance,2,90.09,H,-0.3034,0.9372,-22.0393,loss_of_function,-3.99148046499778,0.48055666724671375,,,0.963,pathogenic,0.400178962,stabilizing,-0.805538271,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589G,NP_000240:p.Ala589Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97824,1.71735,2.305754100323904,Neutral,Uncertain,False,0.104,-0.0291,,,0.04513,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.09,H,-0.1517,0.9372,-3.394,loss_of_function,-2.14895243894726,0.7080185391620826,,,0.2061,benign,0.345573058,stabilizing,-0.05675905,neutral,https://doi.org/10.1101/2022.10.22.513328 +A589H,NP_000240:p.Ala589His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),23.13596,8.75782,3.826381241386967,Destabilizing,Destabilizing,False,0.104,-0.01366,,,0.18711,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.3076,0.9372,-22.0393,loss_of_function,-3.78285352974308,0.5063118647547377,,,0.9883,pathogenic,-0.073111583,neutral,-0.478196099,neutral,https://doi.org/10.1101/2022.10.22.513328 +A589I,NP_000240:p.Ala589Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.32369,11.81599,2.553049560394068,Destabilizing,Uncertain,False,0.104,0.05934,,,0.20022,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2252,0.9372,-8.7514,loss_of_function,-3.92780509135075,0.4884174538832731,,,0.973,pathogenic,-0.209363894,destabilizing,-0.834255279,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589K,NP_000240:p.Ala589Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.77344,11.62313,6.013182784206432,Destabilizing,Destabilizing,False,0.104,0.0365,,,0.13646,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.3254,0.9372,-22.0393,loss_of_function,-4.97795397479485,0.35877555566474373,,,0.9978,pathogenic,-1.284126179,destabilizing,-1.219132285,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589L,NP_000240:p.Ala589Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.45307,5.05272,2.698450867224583,Destabilizing,Uncertain,False,0.104,-0.03362,,,0.26442,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2197,0.9372,-6.7515,loss_of_function,-3.13149627193329,0.5867225499938961,,,0.8661,pathogenic,-0.901992269,destabilizing,-0.953889483,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589M,NP_000240:p.Ala589Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.80224,5.4415,2.879407452920556,Destabilizing,Uncertain,False,0.104,0.01062,,,0.16753,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2565,0.9372,-22.0393,loss_of_function,-3.73211678841336,0.5125753646823245,,,0.9298,pathogenic,-0.330259755,destabilizing,-1.020256063,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589N,NP_000240:p.Ala589Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.07924,4.87007,2.755579035545909,Destabilizing,Uncertain,False,0.104,-0.00482,,,0.15246,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2295,0.9372,-7.1665,loss_of_function,-2.97270633263016,0.6063253220139443,,,0.9781,pathogenic,-1.162578386,destabilizing,-1.088168516,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589P,NP_000240:p.Ala589Pro,"hg19,3:g.37089043G>C, hg38,3:g.37047552G>C",,,0.889,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.75606,11.76565,7.38217825900203,Destabilizing,Destabilizing,False,0.104,0.44744,,,0.41385,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,2431569,Uncertain significance,1,90.09,H,-0.3748,0.9372,-22.0393,loss_of_function,-5.16782085049383,0.33533630570457595,,,0.9865,pathogenic,-1.240092842,destabilizing,-1.117099453,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589Q,NP_000240:p.Ala589Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.83774,5.41633,3.513542224900729,Destabilizing,Destabilizing,False,0.104,-0.00872,,,0.20777,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.2351,0.9372,-8.7514,loss_of_function,-3.01631851833344,0.6009413553886699,,,0.9771,pathogenic,-0.349908357,destabilizing,-0.940103427,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589R,NP_000240:p.Ala589Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),15.41318,8.92143,4.940856701644314,Destabilizing,Destabilizing,False,0.104,0.19156,,,0.09938,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.3361,0.9372,-22.0393,loss_of_function,-4.61891653170111,0.40309907625122,,,0.9921,pathogenic,-0.944779717,destabilizing,-0.97769841,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589S,NP_000240:p.Ala589Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51092,2.40476,1.747786275358773,Uncertain,Neutral,False,0.104,-0.0137,,,0.07039,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1721277,Uncertain significance,2,90.09,H,-0.1349,0.9372,-5.7515,loss_of_function,-1.63303218189837,0.7717093952946454,,,0.2326,benign,0.259131414,stabilizing,-0.101428315,neutral,https://doi.org/10.1101/2022.10.22.513328 +A589T,NP_000240:p.Ala589Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.36303,4.43639,1.7732629213154076,Destabilizing,Uncertain,False,0.104,-0.03514,,,0.07594,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,820015,Uncertain significance,2,90.09,H,-0.224,0.9372,-22.0393,loss_of_function,-2.68119048068432,0.6423132366828668,,,0.816,pathogenic,-0.734801729,destabilizing,-0.541984516,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589V,NP_000240:p.Ala589Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.60061,5.99524,1.4942181191915591,Destabilizing,Uncertain,False,0.104,-0.0483,,,0.17795,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,233750,Uncertain significance,2,90.09,H,-0.143,0.9372,-6.7515,loss_of_function,-4.34722986612192,0.4366390586305126,,,0.8739,pathogenic,0.456617971,stabilizing,-0.803141994,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589W,NP_000240:p.Ala589Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),38.29878,6.91599,4.762894831587861,Destabilizing,Destabilizing,False,0.104,0.0494,,,0.00063,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.3144,0.9372,-22.0393,loss_of_function,-4.4871552209839,0.4193651378568074,,,0.9951,pathogenic,0.543975801,stabilizing,-0.876311883,damaging,https://doi.org/10.1101/2022.10.22.513328 +A589Y,NP_000240:p.Ala589Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),21.7685,18.6881,4.235788259368454,Destabilizing,Destabilizing,False,0.104,0.04594,,,-0.0531,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.09,H,-0.3226,0.9372,-22.0393,loss_of_function,-3.50426911275972,0.5407033812351221,,,0.9811,pathogenic,0.337915336,stabilizing,-0.790762884,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590A,NP_000240:p.Leu590Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70305,3.5585,3.633550442111842,Uncertain,Uncertain,False,0.044,-0.00182,,,-0.0701,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.181,1.5341,-3.1733,loss_of_function,-3.448667452985,0.5475674600633117,,,0.9316,pathogenic,-0.567408078,destabilizing,-0.452819269,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590C,NP_000240:p.Leu590Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.79967,3.22687,3.810621721518609,Uncertain,Uncertain,False,0.044,-0.0016,,,0.0298,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.2666,1.5341,-22.0459,loss_of_function,-4.89515308921799,0.36899740529920155,,,0.9584,pathogenic,-0.532451542,destabilizing,-0.20361938,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590D,NP_000240:p.Leu590Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.18556,4.84286,4.645080213983516,Destabilizing,Destabilizing,False,0.044,-0.09516,,,-0.04338,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3989,1.5341,-22.0459,loss_of_function,-5.03467185721499,0.3517736780683336,,,0.9992,pathogenic,-1.276728078,destabilizing,-1.07963403,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590E,NP_000240:p.Leu590Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.96926,4.06905,4.104264427662011,Destabilizing,Destabilizing,False,0.044,-0.0771,,,-0.03061,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.2911,1.5341,-7.1732,loss_of_function,-4.34150193597128,0.43734617716322655,,,0.9927,pathogenic,-1.372572047,destabilizing,-0.928973322,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590F,NP_000240:p.Leu590Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3851,0.73844,1.0166849126751505,Neutral,Neutral,False,0.044,-0.00178,,,-0.01388,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,UP,-,neutral,neutral,184860,Conflicting classifications of pathogenicity,1,90.05,H,-0.1328,1.5341,-6.7582,loss_of_function,-4.25063242980123,0.4485641058358068,,,0.9055,pathogenic,-0.071044812,neutral,-0.004183338,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590G,NP_000240:p.Leu590Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89267,5.38639,5.548836528589002,Destabilizing,Destabilizing,False,0.044,-0.0029,,,-0.0012,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3522,1.5341,-22.0459,loss_of_function,-4.17097521369981,0.45839786642442276,,,0.9885,pathogenic,-1.206037513,destabilizing,-1.021898629,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590H,NP_000240:p.Leu590His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68788,2.8966,2.880362870495018,Uncertain,Uncertain,False,0.044,-0.0001,,,-0.28809,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3197,1.5341,-22.0459,loss_of_function,-5.08225508906407,0.34589948194477466,,,0.9924,pathogenic,-1.142698942,destabilizing,-0.731323983,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590I,NP_000240:p.Leu590Ile,"hg19,3:g.37089046T>A, hg38,3:g.37047555T>A",,,0.671,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.07464,1.85544,1.870267370587028,Uncertain,Uncertain,False,0.044,0.0004,,,0.02003,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.05,H,-0.0654,1.5341,-5.1733,loss_of_function,-2.18184400199132,0.7039580438022041,,,0.4849,ambiguous,-0.278684773,destabilizing,-0.101939086,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590K,NP_000240:p.Leu590Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.61998,5.8915,4.437485399880328,Uncertain,Uncertain,False,0.044,0.01158,,,-0.03637,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.05,H,-0.2981,1.5341,-8.7581,loss_of_function,-4.90427706010158,0.367871042244127,,,0.9907,pathogenic,-1.372574831,destabilizing,-1.108278296,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590M,NP_000240:p.Leu590Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21075,0.95408,1.8355765359003555,Neutral,Neutral,False,0.044,0.00106,,,0.06009,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.05,H,-0.0989,1.5341,-7.1732,loss_of_function,-2.41552107427409,0.6751103825815088,,,0.5031,ambiguous,-0.286348593,destabilizing,0.050367666,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590N,NP_000240:p.Leu590Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91136,3.23197,3.548988272841085,Uncertain,Uncertain,False,0.044,0.0008,,,0.14186,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3452,1.5341,-22.0459,loss_of_function,-3.80289068112669,0.5038382589820554,,,0.9947,pathogenic,-1.417262782,destabilizing,-1.079510264,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590P,NP_000240:p.Leu590Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.79276,9.03776,8.185666963427257,Destabilizing,Destabilizing,False,0.044,-0.00224,,,-0.01641,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3608,1.5341,-22.0459,loss_of_function,-5.84929607372063,0.25120752842275795,,,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L590Q,NP_000240:p.Leu590Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.24074,3.22449,3.3636787702770348,Destabilizing,Destabilizing,False,0.044,0.00104,,,0.13483,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.2981,1.5341,-22.0459,loss_of_function,-3.83026327311256,0.5004590859522546,,,0.9853,pathogenic,-0.692973798,destabilizing,-0.67757694,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590R,NP_000240:p.Leu590Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67018,4.49592,3.6866629674900175,Uncertain,Uncertain,False,0.044,0.04798,,,-0.06858,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.05,H,-0.2817,1.5341,-7.1732,loss_of_function,-5.04152954055537,0.3509270904085794,,,0.9789,pathogenic,-1.150865638,destabilizing,-0.991727739,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590S,NP_000240:p.Leu590Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.0375,4.52687,4.592236293443759,Destabilizing,Destabilizing,False,0.044,0.00228,,,-0.08256,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.3078,1.5341,-22.0459,loss_of_function,-4.42250399650346,0.4273463942252456,,,0.9859,pathogenic,-1.11214596,destabilizing,-0.898105718,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590T,NP_000240:p.Leu590Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.74862,3.72653,3.689356802435996,Uncertain,Uncertain,False,0.044,0.00084,,,-0.01311,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.05,H,-0.2127,1.5341,-8.7581,loss_of_function,-3.85538393520216,0.497357915852334,,,0.944,pathogenic,-0.744025666,destabilizing,-0.599790162,damaging,https://doi.org/10.1101/2022.10.22.513328 +L590V,NP_000240:p.Leu590Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.58013,2.48946,2.40802927605667,Uncertain,Uncertain,False,0.044,0.0055,,,-0.05656,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,836731,Uncertain significance,2,90.05,H,-0.0893,1.5341,-2.7582,loss_of_function,-2.13804798166187,0.7093647049903835,,,0.5072,ambiguous,-0.340186622,destabilizing,-0.212558544,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590W,NP_000240:p.Leu590Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.9263,1.4466,2.047526512602325,Uncertain,Uncertain,False,0.044,-0.0365,,,-0.04074,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.05,H,-0.31,1.5341,-22.0459,loss_of_function,-5.08225508906407,0.34589948194477466,,,0.9788,pathogenic,-0.266374842,destabilizing,-0.373102481,neutral,https://doi.org/10.1101/2022.10.22.513328 +L590Y,NP_000240:p.Leu590Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28838,1.50408,1.8587924720070608,Neutral,Neutral,False,0.044,-0.0005,,,-0.07826,,,,Neutral,,4.4,,True,4.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.05,H,-0.3029,1.5341,-22.0459,loss_of_function,-3.80276627133157,0.50385361749193,,,0.991,pathogenic,-0.70508521,destabilizing,0.018618853,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591A,NP_000240:p.Asp591Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07034,0.8534,0.2250428115769631,Neutral,Neutral,False,0.01,0.6372,,,0.02249,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.6,H,-0.0722,2.1003,-5.9307,loss_of_function,-1.77791705738135,0.753823216889954,,,0.1628,benign,0.251858991,stabilizing,0.033119159,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591C,NP_000240:p.Asp591Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45306,1.13129,0.7189158460681274,Neutral,Neutral,False,0.01,0.47408,,,0.01223,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.6,H,-0.128,2.1003,-8.738,loss_of_function,-1.82735958955066,0.7477194883384954,,,0.5411,ambiguous,0.011275157,neutral,-0.01580512,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591E,NP_000240:p.Asp591Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2024,0.77585,-0.1225897808634202,Neutral,Neutral,False,0.01,0.33654,,,0.02408,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,0.0049,2.1003,-1.6192,gain_of_function,-0.0828395372044153,0.9630821808404623,,,0.103,benign,0.160954077,stabilizing,0.078694104,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591F,NP_000240:p.Asp591Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.179,0.74524,-0.5245764440808315,Neutral,Neutral,False,0.01,0.65042,,,-0.02074,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.2545,2.1003,-22.0258,loss_of_function,-3.11905290149459,0.5882586961435914,,,0.6696,pathogenic,0.054095584,neutral,-0.271716433,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591G,NP_000240:p.Asp591Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07695,1.59354,0.6057595729601819,Neutral,Neutral,False,0.01,0.66654,,,0.17154,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,836022,Uncertain significance,2,88.6,H,-0.0845,2.1003,-6.1531,loss_of_function,-0.892284373966208,0.8631554306478335,,,0.1424,benign,0.33669217,stabilizing,0.029181888,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591H,NP_000240:p.Asp591His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.07489,0.23231,-0.3838320044432769,Neutral,Neutral,False,0.01,0.56154,,,0.02671,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,973419,Uncertain significance,1,88.6,H,-0.1637,2.1003,-22.0258,loss_of_function,-3.11905290149459,0.5882586961435914,,,0.2784,benign,-0.039039997,neutral,-0.11128038,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591I,NP_000240:p.Asp591Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17508,1.21905,-0.1905471543744225,Neutral,Neutral,False,0.01,0.57224,,,0.04559,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1789,2.1003,-8.738,loss_of_function,-2.18102667493766,0.7040589436197179,,,0.3918,ambiguous,-0.055127473,neutral,-0.214063511,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591K,NP_000240:p.Asp591Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.62282,0.6949,-0.0455013780280133,Neutral,Neutral,False,0.01,0.79708,,,0.09573,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.139,2.1003,-5.1531,loss_of_function,-1.66095421333307,0.7682623934319762,,,0.3858,ambiguous,-0.062332373,neutral,-0.003534219,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591L,NP_000240:p.Asp591Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54119,0.62007,-0.5346774764033152,Neutral,Neutral,False,0.01,0.59872,,,0.07811,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1645,2.1003,-7.1531,loss_of_function,-1.8790210337598,0.7413418329435592,,,0.3889,ambiguous,-0.080977919,neutral,0.083526738,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591M,NP_000240:p.Asp591Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.12989,0.78061,-0.2119702274781065,Neutral,Neutral,False,0.01,0.52558,,,-0.0694,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1062,2.1003,-7.738,loss_of_function,-2.14154213069699,0.708933348902963,,,0.6081,pathogenic,0.027616972,neutral,-0.098677095,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591N,NP_000240:p.Asp591Asn,"hg19,3:g.37089049G>A",,,0.470,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.34199,0.09796,-0.2659872558934406,Neutral,Neutral,False,0.01,0.58578,,,0.03195,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.6,H,-0.0338,2.1003,-4.9307,loss_of_function,-0.90887433328952,0.8611073840784855,,,0.0967,benign,-0.266916102,destabilizing,0.003657869,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591P,NP_000240:p.Asp591Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69468,3.69796,3.050834380633688,Uncertain,Uncertain,False,0.01,0.61674,,,0.27421,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.6,H,-0.2913,2.1003,-22.0258,loss_of_function,-3.31201316387626,0.5644375645971168,,,0.9176,pathogenic,-0.359146205,destabilizing,-0.788332339,damaging,https://doi.org/10.1101/2022.10.22.513328 +D591Q,NP_000240:p.Asp591Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.78996,0.76667,0.1213459800099597,Neutral,Neutral,False,0.01,0.6681,,,0.0468,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.0992,2.1003,-5.9307,loss_of_function,-1.28031938284143,0.8152521324403985,,,0.2649,benign,-0.003778276,neutral,-0.083540137,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591R,NP_000240:p.Asp591Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.76287,0.77449,-0.2966485022874027,Neutral,Neutral,False,0.01,0.96342,,,-0.03439,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1764,2.1003,-6.4161,loss_of_function,-1.91229516279901,0.737234109440522,,,0.4021,ambiguous,-0.109397987,destabilizing,-0.130636536,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591S,NP_000240:p.Asp591Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.0606,0.49388,0.2302000755101979,Neutral,Neutral,False,0.01,0.64172,,,-0.06197,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.6,H,-0.0741,2.1003,-5.0376,loss_of_function,-1.50724031909781,0.7872385227650529,,,0.1144,benign,0.101904797,neutral,0.022933835,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591T,NP_000240:p.Asp591Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42512,0.96054,0.0874233436899535,Neutral,Neutral,False,0.01,0.63416,,,0.03596,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.6,H,-0.1111,2.1003,-6.4161,loss_of_function,-1.72952110784763,0.7597977437999506,,,0.2462,benign,-0.005923421,neutral,-0.033869456,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591V,NP_000240:p.Asp591Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88067,1.18027,-0.1148452542462968,Neutral,Neutral,False,0.01,0.64258,,,-0.02509,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1255,2.1003,-7.1531,loss_of_function,-2.65139597555584,0.6459913972391775,,,0.208,benign,0.013625959,neutral,-0.053383034,neutral,https://doi.org/10.1101/2022.10.22.513328 +D591W,NP_000240:p.Asp591Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31067,0.73163,-0.5814986949993051,Neutral,Neutral,False,0.01,0.36288,,,-0.21369,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.2349,2.1003,-22.0258,loss_of_function,-3.11905290149459,0.5882586961435914,,,0.9035,pathogenic,0.29111382,stabilizing,-0.8649573,damaging,https://doi.org/10.1101/2022.10.22.513328 +D591Y,NP_000240:p.Asp591Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72606,0.38707,-0.3866332674584088,Neutral,Neutral,False,0.01,0.63736,,,-0.27223,,,Uncertain,Neutral,Uncertain,64.5,,True,64.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,88.6,H,-0.1993,2.1003,-22.0258,loss_of_function,-2.62238227302314,0.6495731669577254,,,0.2683,benign,0.452846619,stabilizing,-0.191843546,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592A,NP_000240:p.Ser592Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07249,-0.14456,0.1836501792911143,Neutral,Neutral,False,0.009,1.20224,,,0.4146,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,-,-,uncertain,neutral,,,,85.57,S,0.0976,3.0421,-3.0102,gain_of_function,-0.998723971139696,0.8500153591391815,,,0.1127,benign,0.011706729,neutral,-0.063298434,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592C,NP_000240:p.Ser592Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7e-05,0.17347,0.4816871200917305,Neutral,Neutral,False,0.009,0.62248,,,0.129,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0332,3.0421,-5.7381,gain_of_function,-0.378125494426506,0.9266288430184971,,,0.0785,benign,-0.029599703,neutral,-0.03121701,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592D,NP_000240:p.Ser592Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30023,0.15986,0.884795652918108,Neutral,Neutral,False,0.009,0.88714,,,-0.36579,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0022,3.0421,-3.2145,loss_of_function,-0.320626124347173,0.9337271960244127,,,0.2082,benign,0.100496522,neutral,-0.026916581,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592E,NP_000240:p.Ser592Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26109,0.17891,0.8386544387635738,Neutral,Neutral,False,0.009,0.94116,,,-0.59879,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0159,3.0421,-4.9307,gain_of_function,-1.11371845322565,0.8358191787905563,,,0.4508,ambiguous,0.022406862,neutral,0.034457651,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592F,NP_000240:p.Ser592Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.90776,-0.89898,-0.5139512651996897,Neutral,Neutral,False,0.009,2.04774,,,0.11565,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0046,3.0421,-7.738,loss_of_function,-1.99570049900603,0.7269376397895039,,,0.1999,benign,-0.149035867,destabilizing,-0.044506509,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592G,NP_000240:p.Ser592Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93084,1.09966,1.3369091524004988,Neutral,Neutral,False,0.009,1.27454,,,0.4824,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,DOWN,-,neutral,neutral,1058380,Uncertain significance,2,85.57,S,0.0694,3.0421,-6.7381,gain_of_function,-1.16417387350447,0.8295904082195613,,,0.1066,benign,0.039690023,neutral,0.148398335,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592H,NP_000240:p.Ser592His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.62337,0.00646,-0.1599318518900133,Neutral,Neutral,False,0.009,2.264,,,-0.09637,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0079,3.0421,-5.0376,gain_of_function,-0.8134060138102,0.8728930407145628,,,0.2491,benign,0.028594672,neutral,-0.149059236,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592I,NP_000240:p.Ser592Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0994,-1.03776,-0.1635320884860891,Neutral,Neutral,False,0.009,0.95366,,,-0.2601,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0129,3.0421,-8.738,loss_of_function,-1.80424272631959,0.7505732875258119,,,0.1494,benign,-0.175690115,destabilizing,0.118885084,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592K,NP_000240:p.Ser592Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84124,-0.58265,0.5141698072515305,Neutral,Neutral,False,0.009,1.39016,,,-0.46227,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0084,3.0421,-6.4161,loss_of_function,-2.10851501435783,0.7130105784485972,,,0.6582,pathogenic,-0.175899293,destabilizing,0.066660732,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592L,NP_000240:p.Ser592Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.90758,-1.43231,-0.6165755753927238,Neutral,Neutral,False,0.009,0.86538,,,-0.07869,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0103,3.0421,-4.9307,gain_of_function,-0.999432163730052,0.8499279320770139,,,0.1044,benign,-0.188786619,destabilizing,-0.029076704,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592M,NP_000240:p.Ser592Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.31961,-1.34116,-0.2577186576205159,Neutral,Neutral,False,0.009,0.58408,,,0.36541,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.03,3.0421,-6.7381,gain_of_function,-0.851193705848013,0.8682281134815663,,,0.1719,benign,-0.187775163,destabilizing,0.037636377,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592N,NP_000240:p.Ser592Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03824,-0.38673,0.0360379073569916,Neutral,Neutral,False,0.009,-0.38442,,,-0.04815,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,219961,Uncertain significance,2,85.57,S,0.0715,3.0421,-3.7381,gain_of_function,-0.325274090674178,0.933153400073202,,,0.1044,benign,-0.038187426,neutral,0.0312973,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592P,NP_000240:p.Ser592Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.0942,4.97211,5.883358155198226,Destabilizing,Destabilizing,False,0.009,1.42118,,,3.07606,,,Uncertain,Destabilizing,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.1529,3.0421,-22.0258,loss_of_function,-3.16476479821164,0.5826155181571214,,,0.858,pathogenic,0.18891301,stabilizing,-0.494649418,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592Q,NP_000240:p.Ser592Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37099,-0.75884,0.4374040252948791,Neutral,Neutral,False,0.009,1.49916,,,0.24053,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0453,3.0421,-5.0376,gain_of_function,-1.14613741931479,0.8318170259831426,,,0.4772,ambiguous,-0.282470827,destabilizing,-0.023179751,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592R,NP_000240:p.Ser592Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.55004,-0.97415,-0.0312698810095729,Neutral,Neutral,False,0.009,0.98558,,,-0.29113,,,Uncertain,Neutral,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0112,3.0421,-5.9307,loss_of_function,-2.04066033254016,0.7213873047324045,,,0.5776,pathogenic,-0.231661508,destabilizing,-0.153079125,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592T,NP_000240:p.Ser592Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23781,-0.21463,0.228065762609998,Neutral,Neutral,False,0.009,1.4995,,,0.10895,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,neutral,,,UP,-,neutral,neutral,142658,Conflicting classifications of pathogenicity,1,85.57,S,0.1014,3.0421,-4.0942,gain_of_function,-0.950773016594112,0.8559349509862845,,,0.0923,benign,-0.078938857,neutral,-0.046307986,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592V,NP_000240:p.Ser592Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31196,-0.56837,-0.2136512567795406,Neutral,Neutral,False,0.009,1.03146,,,-0.207,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,0.0312,3.0421,-5.1531,gain_of_function,-1.74945497518481,0.7573368885429769,,,0.1834,benign,-0.081917877,destabilizing,-0.090753863,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592W,NP_000240:p.Ser592Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.13474,-1.27347,-0.6099638885679043,Neutral,Neutral,False,0.009,2.56298,,,-0.21244,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0872,3.0421,-22.0258,loss_of_function,-2.66197239812917,0.6446857276142468,,,0.342,ambiguous,0.017112323,neutral,-0.02850993,neutral,https://doi.org/10.1101/2022.10.22.513328 +S592Y,NP_000240:p.Ser592Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.5642,-0.69354,-0.2342434468881282,Neutral,Neutral,False,0.009,3.4219,,,-0.16955,,,Uncertain,Uncertain,Uncertain,30.9,,True,30.9,,uncertain,,,UP,-,neutral,neutral,,,,85.57,S,-0.0094,3.0421,-7.738,loss_of_function,-2.48994821741932,0.6659222795720716,,,0.1654,benign,-0.071994793,neutral,-0.076001401,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593A,NP_000240:p.Pro593Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99812,0.36429,-0.5989892099909544,Neutral,Neutral,False,0.006,0.18866,,,0.08654,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,83.39,G,-0.0186,2.3386,-3.8365,loss_of_function,-0.679542847052581,0.8894185784869648,,,0.0619,benign,0.013435974,neutral,-0.067041194,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593C,NP_000240:p.Pro593Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.38153,1.25544,0.3172382537145402,Neutral,Neutral,False,0.006,0.21186,,,0.38498,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.39,G,-0.0758,2.3386,-8.6437,loss_of_function,-2.85102045987368,0.62134756103094,,,0.3358,benign,0.016678886,neutral,-0.056423437,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593D,NP_000240:p.Pro593Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55385,0.2068,-0.6827876871063399,Neutral,Neutral,False,0.006,-0.01774,,,0.05004,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.39,G,-0.0823,2.3386,-4.8365,loss_of_function,-0.473389840288276,0.9148683671233439,,,0.2119,benign,0.134155566,stabilizing,0.031347837,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593E,NP_000240:p.Pro593Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94221,0.14762,-0.8063491242610743,Neutral,Neutral,False,0.006,-0.1001,,,0.1077,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0494,2.3386,-1.5564,loss_of_function,-0.5802421570695,0.901677344978813,,,0.1126,benign,0.097902071,neutral,0.051604839,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593F,NP_000240:p.Pro593Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1604,1.0085,-0.5971173089938853,Neutral,Neutral,False,0.006,0.14248,,,-0.06982,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.172,2.3386,-21.9316,loss_of_function,-3.08352777565187,0.592644307385302,,,0.3412,ambiguous,0.201034227,stabilizing,-0.109556704,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593G,NP_000240:p.Pro593Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26169,0.89864,-0.0706622600513501,Neutral,Neutral,False,0.006,0.11622,,,0.05886,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,83.39,G,-0.0456,2.3386,-6.3219,loss_of_function,-2.00981676400664,0.725194973183572,,,0.217,benign,-0.088874865,destabilizing,0.021245625,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593H,NP_000240:p.Pro593His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40652,0.68333,-0.8819738890219797,Neutral,Neutral,False,0.006,0.1757,,,-0.00074,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.1497,2.3386,-21.9316,loss_of_function,-2.61418554721249,0.6505850607091948,,,0.1403,benign,0.050792736,neutral,0.078938154,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593I,NP_000240:p.Pro593Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2522,1.00816,-0.4898584710334713,Neutral,Neutral,False,0.006,0.17714,,,0.10341,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0792,2.3386,-7.0589,loss_of_function,-2.36935200696004,0.680809998721596,,,0.1875,benign,0.121938946,stabilizing,-0.007552999,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593K,NP_000240:p.Pro593Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.7934,0.29048,-0.7890316282265497,Neutral,Neutral,False,0.006,0.07392,,,0.21529,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0691,2.3386,-7.0589,loss_of_function,-2.07597786519908,0.717027321070582,,,0.1625,benign,-0.023903487,neutral,-0.105376796,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593L,NP_000240:p.Pro593Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08024,0.60714,-0.866280948982695,Neutral,Neutral,False,0.006,0.10932,,,0.10983,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0919,2.3386,-8.6437,loss_of_function,-3.26943503711422,0.5696938756431438,,,0.0972,benign,0.160701164,stabilizing,-0.022007553,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593M,NP_000240:p.Pro593Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30536,0.88844,-0.5407169886024499,Neutral,Neutral,False,0.006,0.10112,,,0.10859,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.1106,2.3386,-21.9316,loss_of_function,-3.26943503711422,0.5696938756431438,,,0.1929,benign,0.059237847,neutral,0.018238928,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593N,NP_000240:p.Pro593Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31747,0.3949,-0.5150670022208476,Neutral,Neutral,False,0.006,0.16578,,,0.18669,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.39,G,-0.0597,2.3386,-6.6438,loss_of_function,-1.66520632742604,0.767737465823001,,,0.1964,benign,0.01445186,neutral,0.014305311,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593Q,NP_000240:p.Pro593Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23014,0.53367,-0.421816204590324,Neutral,Neutral,False,0.006,0.19064,,,-0.16797,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0495,2.3386,-4.3219,loss_of_function,-1.34420125841574,0.8073658529406267,,,0.1026,benign,0.00517951,neutral,0.050271814,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593R,NP_000240:p.Pro593Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96553,0.73061,-0.7985635030117982,Neutral,Neutral,False,0.006,0.12328,,,-0.39685,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.1129,2.3386,-8.6437,loss_of_function,-2.56179211924227,0.6570530802093999,,,0.1242,benign,0.002542541,neutral,-0.042757448,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593S,NP_000240:p.Pro593Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2979,0.19796,-0.5278107833552836,Neutral,Neutral,False,0.006,0.13168,,,0.06796,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2853540,Uncertain significance,1,83.39,G,-0.0285,2.3386,-5.8365,loss_of_function,-1.22904319332047,0.8215822277704139,,,0.0868,benign,0.019979634,neutral,0.01506641,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593T,NP_000240:p.Pro593Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31076,0.7449,-0.43388971055699,Neutral,Neutral,False,0.006,0.20536,,,0.0848,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,-,-,uncertain,neutral,1332474,Uncertain significance,1,83.39,G,-0.0373,2.3386,-5.1844,loss_of_function,-0.59845192137375,0.8994293319134916,,,0.0721,benign,0.032505476,neutral,0.028262935,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593V,NP_000240:p.Pro593Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29568,0.95714,-0.4060478754923774,Neutral,Neutral,False,0.006,0.23826,,,0.00946,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.0325,2.3386,-6.6438,loss_of_function,-0.876509270213031,0.8651028825067061,,,0.1269,benign,0.054418074,neutral,0.071010821,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593W,NP_000240:p.Pro593Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32619,1.06361,-1.111944381540747,Neutral,Neutral,False,0.006,0.27304,,,-0.15514,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.1846,2.3386,-21.9316,loss_of_function,-3.46013346423187,0.5461519698538053,,,0.4657,ambiguous,0.313358241,stabilizing,-0.107203231,neutral,https://doi.org/10.1101/2022.10.22.513328 +P593Y,NP_000240:p.Pro593Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23033,0.77007,-0.6001505356303954,Neutral,Neutral,False,0.006,0.16132,,,-0.03372,,,Uncertain,Neutral,Uncertain,92.7,,True,92.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.39,G,-0.173,2.3386,-21.9316,loss_of_function,-3.21687001510918,0.5761830785933795,,,0.333,benign,0.222728726,stabilizing,-0.090902825,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594A,NP_000240:p.Glu594Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1382,-0.06259,0.4984795829549898,Neutral,Neutral,False,0.002,0.2146,,,0.17235,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1779999,Uncertain significance,1,81.6,G,-0.036,2.1776,-5.7313,loss_of_function,-2.59465388723904,0.652996263077008,,,0.1406,benign,-0.0255017,neutral,0.070918439,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594C,NP_000240:p.Glu594Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63549,0.60238,1.1126073519527595,Neutral,Neutral,False,0.002,0.25456,,,-0.05235,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.1207,2.1776,-8.7312,loss_of_function,-3.86825194260418,0.4957693478576542,,,0.8279,pathogenic,-0.021152496,neutral,-0.194157659,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594D,NP_000240:p.Glu594Asp,"hg19,3:g.37089060G>C, hg38,3:g.37047569G>C",,,0.488,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44265,-0.43537,0.599314292892032,Neutral,Neutral,False,0.002,0.04042,,,0.1093,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1042024,Uncertain significance,2,81.6,G,0.0085,2.1776,-3.7313,gain_of_function,-0.5223637863389,0.9088224859827267,,,0.1326,benign,-0.059180095,neutral,0.053287769,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594F,NP_000240:p.Glu594Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35831,-0.67687,-0.0073762077022981,Neutral,Neutral,False,0.002,0.05902,,,-0.0807,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0932,2.1776,-7.7313,loss_of_function,-2.8338080926603,0.623472444458001,,,0.7635,pathogenic,-0.046067664,neutral,-0.189150543,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594G,NP_000240:p.Glu594Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87477,1.11088,1.3622328357340363,Neutral,Neutral,False,0.002,0.23106,,,-0.15823,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.0669,2.1776,-6.7313,loss_of_function,-1.55305326135812,0.7815828706082617,,,0.1914,benign,-0.112714401,destabilizing,-0.063395995,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594H,NP_000240:p.Glu594His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52001,-0.2966,0.1399483786808697,Neutral,Neutral,False,0.002,0.24274,,,0.11767,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0778,2.1776,-6.4094,loss_of_function,-2.76025332357864,0.63255285204316,,,0.4828,ambiguous,0.016863666,neutral,0.013235373,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594I,NP_000240:p.Glu594Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0411,0.46769,-0.0294299349239529,Neutral,Neutral,False,0.002,0.15932,,,0.03406,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0956,2.1776,-7.1463,loss_of_function,-2.96495567236914,0.6072821485406652,,,0.3798,ambiguous,-0.114263401,destabilizing,-0.034496368,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594K,NP_000240:p.Glu594Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08116,0.82415,0.5162878586479099,Neutral,Neutral,False,0.002,-0.05636,,,-0.10698,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,495761,Uncertain significance,2,81.6,G,-0.0488,2.1776,-3.924,loss_of_function,-2.31712834046986,0.6872570610024356,,,0.1853,benign,-0.147508327,destabilizing,-0.141494355,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594L,NP_000240:p.Glu594Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42831,-0.47857,-0.2173788465625392,Neutral,Neutral,False,0.002,0.10458,,,-0.02551,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0905,2.1776,-5.7313,loss_of_function,-2.87755492381137,0.618071855721602,,,0.4081,ambiguous,-0.031614086,neutral,-0.032331663,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594M,NP_000240:p.Glu594Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59417,-0.46565,0.0789416232570644,Neutral,Neutral,False,0.002,0.16764,,,0.0007,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0546,2.1776,-8.7312,loss_of_function,-2.93619174340247,0.610833083470227,,,0.4961,ambiguous,-0.04441013,neutral,-0.016581922,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594N,NP_000240:p.Glu594Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59143,0.11531,0.5829628671613898,Neutral,Neutral,False,0.002,0.2268,,,0.00845,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.0657,2.1776,-6.4094,loss_of_function,-1.54665026871955,0.7823733262598652,,,0.325,benign,-0.101164532,destabilizing,-0.093421567,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594P,NP_000240:p.Glu594Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00464,4.86122,4.405794875786032,Uncertain,Uncertain,False,0.002,0.55206,,,-0.02973,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.1921,2.1776,-5.5614,loss_of_function,-3.24736264909904,0.5724187333520042,,,0.7386,pathogenic,-0.057558449,neutral,-0.288034098,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594Q,NP_000240:p.Glu594Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08139,-0.03707,0.4227952795878892,Neutral,Neutral,False,0.002,0.13706,,,0.06906,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,455403,Uncertain significance,2,81.6,G,-0.0044,2.1776,-4.924,loss_of_function,-1.46308915810474,0.7926890264126132,,,0.1491,benign,-0.071719941,neutral,-0.049461192,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594R,NP_000240:p.Glu594Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1415,0.45,0.3207727346154926,Neutral,Neutral,False,0.002,-0.1208,,,0.06496,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.1144,2.1776,-4.924,loss_of_function,-2.460831098167,0.6695168161849622,,,0.299,benign,-0.085189221,destabilizing,-0.118497329,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594S,NP_000240:p.Glu594Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57763,0.15816,0.7983869374029192,Neutral,Neutral,False,0.002,0.23788,,,-0.00481,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.0478,2.1776,-5.4094,loss_of_function,-2.72920836945138,0.6363853817412021,,,0.207,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E594T,NP_000240:p.Glu594Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99262,0.07279,0.5820034992139091,Neutral,Neutral,False,0.002,0.271,,,-0.14378,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,81.6,G,-0.0705,2.1776,-6.7313,loss_of_function,-3.86825194260418,0.4957693478576542,,,0.2526,benign,-0.049284892,neutral,-0.106492724,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594V,NP_000240:p.Glu594Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81643,0.2966,0.0811249630985333,Neutral,Neutral,False,0.002,0.1701,,,0.16433,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,81.6,G,-0.0646,2.1776,-8.7312,loss_of_function,-1.75206774650108,0.7570143393898119,,,0.2236,benign,-0.028804178,neutral,-0.093049084,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594W,NP_000240:p.Glu594Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.425,-0.64898,-0.4152192446479014,Neutral,Neutral,False,0.002,-0.46262,,,-0.52277,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.1762,2.1776,-22.019,loss_of_function,-3.94602097286444,0.4861686856425132,,,0.9027,pathogenic,-0.089907183,destabilizing,-0.20277639,neutral,https://doi.org/10.1101/2022.10.22.513328 +E594Y,NP_000240:p.Glu594Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30426,-0.49762,0.0774084659002649,Neutral,Neutral,False,0.002,0.25572,,,0.0027,,,Uncertain,Neutral,Uncertain,55.1,,True,55.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,81.6,G,-0.0992,2.1776,-8.7312,loss_of_function,-3.94602097286444,0.4861686856425132,,,0.618,pathogenic,0.04431005,neutral,0.014371863,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595A,NP_000240:p.Ser595Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59737,-0.1602,-0.4826183770012004,Neutral,Neutral,False,0.004,0.0,,,-0.04659,,,,Neutral,,5.4,,False,5.4,,uncertain,,,-,-,uncertain,neutral,,,,82.88,G,0.0364,2.4079,-3.5546,gain_of_function,-1.50399863693137,0.7876387115726629,,,0.1764,benign,0.1432387,stabilizing,0.097698603,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595C,NP_000240:p.Ser595Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22098,1.39524,0.4560251686786043,Neutral,Neutral,False,0.004,0.00118,,,-0.01602,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,856069,Uncertain significance,2,82.88,G,-0.0404,2.4079,-8.7244,loss_of_function,-3.23899171912586,0.5734521327763015,,,0.2057,benign,0.250410117,stabilizing,-0.032444977,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595D,NP_000240:p.Ser595Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.65006,5.06122,1.606387804020748,Destabilizing,Uncertain,False,0.004,-0.10918,,,-0.03109,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0687,2.4079,-4.8176,loss_of_function,-2.20349237107175,0.7012855316421017,,,0.9456,pathogenic,0.161004278,stabilizing,-0.375596222,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595E,NP_000240:p.Ser595Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74247,6.14626,1.8762598693543109,Destabilizing,Uncertain,False,0.004,-0.08644,,,-0.11596,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0391,2.4079,-4.2651,loss_of_function,-2.17202236970316,0.7051705338343465,,,0.9529,pathogenic,0.068485162,neutral,-0.172473759,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595F,NP_000240:p.Ser595Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.24677,2.43639,-0.4370932481911893,Uncertain,Uncertain,False,0.004,0.01504,,,-0.19289,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.1358,2.4079,-22.0122,loss_of_function,-4.70968163456278,0.39189403626832187,,,0.8481,pathogenic,0.143275664,stabilizing,-0.020527239,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595G,NP_000240:p.Ser595Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81234,1.49218,0.991854303926776,Neutral,Neutral,False,0.004,0.0,,,-0.08621,,,,Neutral,,5.4,,False,5.4,,uncertain,,,DOWN,-,neutral,neutral,1924410,Uncertain significance,1,82.88,G,0.0192,2.4079,-5.1395,gain_of_function,-3.0901916529563,0.5918216452686617,,,0.2802,benign,-0.360489265,destabilizing,0.015194489,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595H,NP_000240:p.Ser595His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.91464,3.14184,0.1562874556323618,Destabilizing,Uncertain,False,0.004,-0.00208,,,-0.05512,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0574,2.4079,-6.4026,loss_of_function,-4.01013788053549,0.47825339120243715,,,0.9128,pathogenic,-0.371798693,destabilizing,-0.109921494,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595I,NP_000240:p.Ser595Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12689,4.01224,0.5853083297151215,Destabilizing,Uncertain,False,0.004,0.0,,,0.00408,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0712,2.4079,-8.7244,loss_of_function,-2.99196778831326,0.6039474766278504,,,0.6592,pathogenic,0.580322566,stabilizing,0.030233802,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595K,NP_000240:p.Ser595Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.8347,7.63333,1.4846752680448534,Destabilizing,Uncertain,False,0.004,0.01326,,,-0.03524,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0597,2.4079,-5.0241,loss_of_function,-3.43480721750821,0.5492785195762008,,,0.9913,pathogenic,-0.546346066,destabilizing,-0.416146676,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595L,NP_000240:p.Ser595Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.16665,7.2466,0.1937832761386215,Destabilizing,Uncertain,False,0.004,0.03668,,,-0.24717,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0623,2.4079,-7.7244,loss_of_function,-3.22093427257315,0.5756813420674596,,,0.41,ambiguous,0.554887929,stabilizing,-0.043270616,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595M,NP_000240:p.Ser595Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91414,6.59932,0.3263121312979139,Uncertain,Neutral,False,0.004,0.0,,,-0.09173,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0334,2.4079,-7.7244,loss_of_function,-4.27494026565608,0.44556327992294,,,0.5395,ambiguous,0.598244961,stabilizing,-0.088803597,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595N,NP_000240:p.Ser595Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.08058,3.59014,0.4456159657740804,Destabilizing,Uncertain,False,0.004,0.00886,,,0.02202,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,0.009,2.4079,-4.5546,gain_of_function,-2.21640249587274,0.6996917642136687,,,0.6217,pathogenic,-0.07504708,neutral,0.077472698,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595P,NP_000240:p.Ser595Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.05084,7.26395,5.957003558779104,Destabilizing,Destabilizing,False,0.004,0.04134,,,0.10945,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.1272,2.4079,-5.5546,loss_of_function,-3.15385739609835,0.5839620475272829,,,0.9508,pathogenic,0.378937602,stabilizing,-0.171083016,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595Q,NP_000240:p.Ser595Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.32743,5.99014,1.005972743864683,Destabilizing,Uncertain,False,0.004,0.27584,,,-0.11022,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0142,2.4079,-5.2651,loss_of_function,-2.24641397838516,0.6959868175888606,,,0.9543,pathogenic,-0.241328152,destabilizing,-0.026532559,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595R,NP_000240:p.Ser595Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.26916,6.86088,0.4859551132558343,Destabilizing,Uncertain,False,0.004,0.02956,,,-0.03947,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,230773,Uncertain significance,2,82.88,G,-0.0787,2.4079,-7.7244,loss_of_function,-3.91381981094401,0.4901439503140477,,,0.9817,pathogenic,-0.527297666,destabilizing,-0.198680724,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595T,NP_000240:p.Ser595Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82954,4.12925,0.2892464762102181,Uncertain,Neutral,False,0.004,0.01474,,,-0.11371,,,,Neutral,,5.4,,False,5.4,,neutral,,,UP,-,neutral,neutral,1780062,Uncertain significance,1,82.88,G,0.0421,2.4079,-4.2651,gain_of_function,-1.53341625419445,0.7840070781888857,,,0.2141,benign,0.211614698,stabilizing,0.045097539,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595V,NP_000240:p.Ser595Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.85952,7.24524,0.1170259283487273,Uncertain,Neutral,False,0.004,-0.0065,,,-0.02522,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.0352,2.4079,-6.7245,loss_of_function,-3.02006942107275,0.6004783028074374,,,0.5642,pathogenic,0.486719844,stabilizing,-0.029419482,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595W,NP_000240:p.Ser595Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.63444,4.01259,-0.2822485790259305,Destabilizing,Uncertain,False,0.004,0.0011,,,-0.06836,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.1455,2.4079,-22.0122,loss_of_function,-4.70968163456278,0.39189403626832187,,,0.8598,pathogenic,0.18061302,stabilizing,-0.125292916,neutral,https://doi.org/10.1101/2022.10.22.513328 +S595Y,NP_000240:p.Ser595Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.71462,2.17517,-0.232872906921942,Uncertain,Uncertain,False,0.004,0.00846,,,-0.07497,,,,Neutral,,5.4,,False,5.4,,uncertain,,,UP,-,neutral,neutral,,,,82.88,G,-0.1406,2.4079,-22.0122,loss_of_function,-4.70968163456278,0.39189403626832187,,,0.7386,pathogenic,0.230750885,stabilizing,-0.022455894,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596A,NP_000240:p.Gly596Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42903,0.65306,1.3856390233620566,Uncertain,Uncertain,False,0.005,0.0,,,-0.02675,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1039,2.0397,-4.1975,loss_of_function,-2.66112491746295,0.6447903499244777,,,0.6038,pathogenic,-0.142134438,destabilizing,-0.047371389,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596C,NP_000240:p.Gly596Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26814,0.90748,1.60025389251692,Uncertain,Uncertain,False,0.005,0.0,,,0.02492,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,918854,Uncertain significance,2,82.54,-,-0.2546,2.0397,-22.0088,loss_of_function,-4.33430431252408,0.4382347307588815,,,0.7063,pathogenic,-0.19800843,destabilizing,0.109598297,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596D,NP_000240:p.Gly596Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18603,0.71633,0.9226877603101354,Uncertain,Uncertain,False,0.005,-0.01918,,,-0.03998,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.172,2.0397,-5.7211,loss_of_function,-2.59534153263952,0.6529113725853598,,,0.8557,pathogenic,-0.36133363,destabilizing,0.058473301,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596E,NP_000240:p.Gly596Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33675,0.67245,1.1081521598706623,Uncertain,Uncertain,False,0.005,-0.01526,,,-0.14863,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1626,2.0397,-4.0207,loss_of_function,-2.23547110416167,0.6973377260254312,,,0.832,pathogenic,-0.415577532,destabilizing,0.00289735,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596F,NP_000240:p.Gly596Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.2007,0.34966,1.089510765617692,Uncertain,Uncertain,False,0.005,0.0,,,-0.06146,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2168,2.0397,-7.1361,loss_of_function,-4.96410738715981,0.3604849303383314,,,0.9496,pathogenic,-0.032271778,neutral,-0.009758161,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596H,NP_000240:p.Gly596His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24707,0.23673,0.7019569452132113,Uncertain,Uncertain,False,0.005,-0.00214,,,-0.0268,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1877,2.0397,-6.3991,loss_of_function,-4.96410738715981,0.3604849303383314,,,0.9291,pathogenic,-0.402255247,destabilizing,-0.016093476,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596I,NP_000240:p.Gly596Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.64764,4.70986,2.69562598982106,Destabilizing,Uncertain,False,0.005,0.0,,,0.01361,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2573,2.0397,-6.1361,loss_of_function,-3.05152335981941,0.5965952835614493,,,0.8674,pathogenic,-0.303157804,destabilizing,0.021143709,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596K,NP_000240:p.Gly596Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.19825,-0.17347,0.6712326475757369,Uncertain,Uncertain,False,0.005,-0.01696,,,-0.02386,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2063,2.0397,-6.1361,loss_of_function,-3.41559800320086,0.5516499157137884,,,0.9304,pathogenic,-0.505776918,destabilizing,0.042606124,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596L,NP_000240:p.Gly596Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29255,0.10782,1.01532251469236,Uncertain,Uncertain,False,0.005,0.0,,,0.01674,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2307,2.0397,-7.1361,loss_of_function,-2.99848578099573,0.603142824109287,,,0.8867,pathogenic,-0.222831034,destabilizing,0.093087562,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596M,NP_000240:p.Gly596Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.38839,0.43231,1.1482227313407858,Uncertain,Uncertain,False,0.005,0.0,,,0.03885,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.177,2.0397,-8.721,loss_of_function,-4.2844357203098,0.4443910568361345,,,0.9163,pathogenic,-0.188195444,destabilizing,0.066959248,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596N,NP_000240:p.Gly596Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87936,-0.13707,0.4009572623208052,Neutral,Neutral,False,0.005,0.0,,,0.01985,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1733,2.0397,-5.9137,loss_of_function,-2.30272390551849,0.68903530246829,,,0.8335,pathogenic,-0.429018567,destabilizing,0.070059768,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596P,NP_000240:p.Gly596Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.28654,3.24694,6.396137867633192,Destabilizing,Destabilizing,False,0.005,0.0,,,0.52108,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2847,2.0397,-8.721,loss_of_function,-5.15369700398657,0.3370799082548573,,,0.9849,pathogenic,-0.367307367,destabilizing,-0.017497482,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596Q,NP_000240:p.Gly596Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.32227,0.31429,1.125373887554914,Uncertain,Uncertain,False,0.005,-0.01478,,,-0.00642,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1752,2.0397,-5.7211,loss_of_function,-2.251135235659,0.695403973799177,,,0.8438,pathogenic,-0.357754537,destabilizing,-0.014067729,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596R,NP_000240:p.Gly596Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16857,0.27687,0.632497994873202,Uncertain,Uncertain,False,0.005,-0.07002,,,-0.03543,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,1780099,Uncertain significance,1,82.54,-,-0.1892,2.0397,-5.9137,loss_of_function,-3.31071577025044,0.5645977290985886,,,0.819,pathogenic,-0.415198568,destabilizing,-0.00029822,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596S,NP_000240:p.Gly596Ser,"hg19,3:g.37089064G>A",,,0.760,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.46592,0.74626,1.3766757313537854,Uncertain,Uncertain,False,0.005,0.0,,,-0.00234,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,921973,Uncertain significance,2,82.54,-,-0.114,2.0397,-5.0207,loss_of_function,-1.56407694030639,0.7802219867500431,,,0.4433,ambiguous,-0.380855219,destabilizing,0.02645845,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596T,NP_000240:p.Gly596Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.02371,1.10748,2.1495068412864,Uncertain,Uncertain,False,0.005,0.0,,,-0.00488,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.1929,2.0397,-5.3992,loss_of_function,-3.98852924175723,0.48092099861820153,,,0.7813,pathogenic,-0.451131315,destabilizing,-0.027019511,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596V,NP_000240:p.Gly596Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.70795,4.41395,2.3677544257604013,Destabilizing,Uncertain,False,0.005,0.0,,,-0.0508,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2036,2.0397,-6.7211,loss_of_function,-2.94804856500064,0.6093693473437989,,,0.8161,pathogenic,-0.259013378,destabilizing,-0.039252554,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596W,NP_000240:p.Gly596Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41978,0.3398,0.7934467354599941,Uncertain,Uncertain,False,0.005,0.0,,,-0.00756,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2924,2.0397,-22.0088,loss_of_function,-4.96410738715981,0.3604849303383314,,,0.9233,pathogenic,0.139883837,stabilizing,-0.070504797,neutral,https://doi.org/10.1101/2022.10.22.513328 +G596Y,NP_000240:p.Gly596Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.28393,0.43265,1.130134472313974,Uncertain,Uncertain,False,0.005,0.0,,,0.03099,,,Uncertain,Neutral,Uncertain,119.3,,True,119.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.54,-,-0.2201,2.0397,-7.721,loss_of_function,-4.96410738715981,0.3604849303383314,,,0.9242,pathogenic,-0.133674612,destabilizing,0.000222874,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597A,NP_000240:p.Trp597Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.44656,2.60782,4.3290935281058855,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2555,2.5567,-5.406,loss_of_function,-3.7701351341524,0.5078819630261964,,,0.9762,pathogenic,0.851837324,stabilizing,-0.387645241,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597C,NP_000240:p.Trp597Cys,"hg19,3:g.37089069G>C",,,0.790,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.9613,2.32789,4.784044824296451,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,584643,Uncertain significance,1,86.12,-,-0.2083,2.5567,-8.7278,loss_of_function,-5.09442899910275,0.34439660094281616,,,0.9826,pathogenic,0.54078722,stabilizing,-0.05262604,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597D,NP_000240:p.Trp597Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.44825,3.96633,5.73884841747801,Destabilizing,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2835,2.5567,-6.1429,loss_of_function,-5.26282858200827,0.32360750909949526,,,0.9966,pathogenic,-0.05860395,neutral,-0.70492354,damaging,https://doi.org/10.1101/2022.10.22.513328 +W597E,NP_000240:p.Trp597Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.04315,3.97075,5.359574304670597,Destabilizing,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.3031,2.5567,-6.1429,loss_of_function,-5.26282858200827,0.32360750909949526,,,0.9951,pathogenic,-0.193120555,destabilizing,-0.546497649,damaging,https://doi.org/10.1101/2022.10.22.513328 +W597F,NP_000240:p.Trp597Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58103,0.69184,1.4304005949412415,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.1097,2.5567,-5.7279,loss_of_function,-2.12931093834979,0.7104433014614675,,,0.6661,pathogenic,0.061332879,neutral,-0.032154815,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597G,NP_000240:p.Trp597Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.80788,3.90782,6.331766089498714,Destabilizing,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2406,2.5567,-5.406,loss_of_function,-4.58937014532015,0.40674660630749476,,,0.9332,pathogenic,0.194952746,stabilizing,-0.559340418,damaging,https://doi.org/10.1101/2022.10.22.513328 +W597H,NP_000240:p.Trp597His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.03031,1.4517,3.319099817820695,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2489,2.5567,-6.406,loss_of_function,-3.60831255782376,0.5278591170284502,,,0.9885,pathogenic,-0.144394691,destabilizing,-0.008398001,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597I,NP_000240:p.Trp597Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31944,0.9517,3.14770690352589,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2379,2.5567,-4.7279,loss_of_function,-2.95964586864794,0.6079376489601167,,,0.9672,pathogenic,0.070130082,neutral,-0.207010866,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597K,NP_000240:p.Trp597Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28539,3.2881,5.335310460067315,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.3113,2.5567,-5.406,loss_of_function,-3.90370847240454,0.49139220486390545,,,0.9976,pathogenic,-0.244268702,destabilizing,-0.195961881,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597L,NP_000240:p.Trp597Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56401,0.88163,2.614006634855496,Neutral,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1675908,Uncertain significance,1,86.12,-,-0.1955,2.5567,-3.973,loss_of_function,-2.54307724255892,0.6593634498878382,,,0.94,pathogenic,0.397803945,stabilizing,-0.283819208,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597M,NP_000240:p.Trp597Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48356,1.35884,3.0189770179224182,Neutral,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2238,2.5567,-7.1429,loss_of_function,-3.53797278340446,0.5365426304042626,,,0.9758,pathogenic,1.362674126,stabilizing,-0.036141533,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597N,NP_000240:p.Trp597Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.95155,2.87109,4.646362427979189,Uncertain,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2931,2.5567,-6.406,loss_of_function,-5.26282858200827,0.32360750909949526,,,0.9937,pathogenic,-0.079524567,neutral,-0.398916993,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597P,NP_000240:p.Trp597Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.0372,10.1483,7.887015581560912,Destabilizing,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.3351,2.5567,-7.1429,loss_of_function,-3.42520883316003,0.5504634494336207,,,0.9984,pathogenic,-0.180288857,destabilizing,-0.563106267,damaging,https://doi.org/10.1101/2022.10.22.513328 +W597Q,NP_000240:p.Trp597Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.46904,1.66633,4.496138341510696,Uncertain,Destabilizing,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2826,2.5567,-6.1429,loss_of_function,-3.49469473232578,0.5418853477860474,,,0.9969,pathogenic,-0.20997141,destabilizing,-0.511196403,damaging,https://doi.org/10.1101/2022.10.22.513328 +W597R,NP_000240:p.Trp597Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.1704,1.37143,4.654052145902846,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1780160,Uncertain significance,1,86.12,-,-0.246,2.5567,-6.7279,loss_of_function,-3.75107308110495,0.5102351919635152,,,0.9952,pathogenic,-0.174447633,destabilizing,-0.213323506,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597S,NP_000240:p.Trp597Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.95824,2.63061,5.388075092497928,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2516,2.5567,-5.0275,loss_of_function,-5.09442899910275,0.34439660094281616,,,0.9661,pathogenic,0.471933252,stabilizing,-0.411191908,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597T,NP_000240:p.Trp597Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94031,1.79388,4.635810590506242,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2979,2.5567,-5.558,loss_of_function,-3.57041538724792,0.5325375594931514,,,0.9867,pathogenic,0.29850744,stabilizing,-0.39441247,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597V,NP_000240:p.Trp597Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.13636,1.15272,3.2842809342161803,Uncertain,Uncertain,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.2323,2.5567,-5.2685,loss_of_function,-3.06303442076099,0.5951742319234363,,,0.9588,pathogenic,-0.036929643,neutral,-0.113688696,neutral,https://doi.org/10.1101/2022.10.22.513328 +W597Y,NP_000240:p.Trp597Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49669,0.00918,1.9276935526701584,Neutral,Neutral,False,0.012,,,,,,,Uncertain,Uncertain,Uncertain,23.3,,True,23.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.12,-,-0.1521,2.5567,-4.6405,loss_of_function,-2.01137263340746,0.7250028995969764,,,0.7735,pathogenic,-0.097114857,destabilizing,-0.012013811,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598A,NP_000240:p.Thr598Ala,"hg38,3:g.37047579A>G",,0.0005323236527809,0.660,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31511,0.98163,0.267157235032705,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,DOWN,-,neutral,neutral,,,,82.23,-,0.0184,2.7435,-4.8447,gain_of_function,-1.84411045815124,0.7456515773628,,,0.1595,benign,0.046192687,neutral,-0.086883596,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598C,NP_000240:p.Thr598Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32033,0.64422,0.6621883563744965,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,DOWN,-,neutral,neutral,,,,82.23,-,-0.0271,2.7435,-6.7515,loss_of_function,-2.89653057778781,0.6157292928333994,,,0.534,ambiguous,0.106592009,neutral,0.114928878,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598D,NP_000240:p.Thr598Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.27191,0.57347,0.0558403491746284,Uncertain,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,-,-,uncertain,neutral,,,,82.23,-,-0.0943,2.7435,-4.2921,loss_of_function,-1.84631651509955,0.7453792374928387,,,0.4518,ambiguous,0.034541413,neutral,-0.096180774,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598E,NP_000240:p.Thr598Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63012,1.06769,0.0896377283321692,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0707,2.7435,-4.5036,loss_of_function,-2.15918016816748,0.706755916069797,,,0.3096,benign,0.258812311,stabilizing,0.045808601,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598F,NP_000240:p.Thr598Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99649,0.89558,-0.0504626139263336,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.1088,2.7435,-8.7514,loss_of_function,-4.36740025790075,0.43414900420180835,,,0.611,pathogenic,0.948118621,stabilizing,-0.165541944,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598G,NP_000240:p.Thr598Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4725,1.64762,0.6634749628103309,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,DOWN,-,neutral,neutral,,,,82.23,-,-0.0607,2.7435,-5.9442,loss_of_function,-2.99303942409187,0.6038151821515831,,,0.3148,benign,0.025394197,neutral,-0.004657301,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598H,NP_000240:p.Thr598His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07763,0.75306,-0.1516538294715003,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.084,2.7435,-7.7515,loss_of_function,-3.51927763120959,0.538850565075467,,,0.4153,ambiguous,0.099438296,neutral,0.001639065,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598I,NP_000240:p.Thr598Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17817,0.38095,0.0179109934656546,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0223,2.7435,-7.7515,loss_of_function,-2.68235769539298,0.6421691428949812,,,0.5038,ambiguous,0.184385466,stabilizing,-0.047713721,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598K,NP_000240:p.Thr598Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10083,0.23265,-0.0259712436894199,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0634,2.7435,-4.5816,loss_of_function,-2.57886674557575,0.6549452010275597,,,0.2741,benign,-0.188056002,destabilizing,0.113730811,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598L,NP_000240:p.Thr598Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14657,0.69286,-0.2101215932789196,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.059,2.7435,-4.7515,loss_of_function,-2.65620578540432,0.6453976215482659,,,0.2032,benign,0.629529842,stabilizing,-0.138863215,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598M,NP_000240:p.Thr598Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23664,1.12245,0.0600303051541833,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0382,2.7435,-7.1665,loss_of_function,-1.34163014804361,0.8076832590098301,,,0.1177,benign,0.377561469,stabilizing,-0.008065811,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598N,NP_000240:p.Thr598Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54333,1.17177,0.0475164355818058,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,-,-,uncertain,neutral,,,,82.23,-,-0.0372,2.7435,-4.8447,loss_of_function,-1.83248269086551,0.7470870365121937,,,0.1795,benign,0.044472173,neutral,-0.102163128,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598P,NP_000240:p.Thr598Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43332,3.84252,2.6170935585031474,Uncertain,Uncertain,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,-,-,uncertain,neutral,1425712,Uncertain significance,1,82.23,-,-0.145,2.7435,-4.6641,loss_of_function,-2.50491868464972,0.6640741608723667,,,0.7775,pathogenic,0.780705816,stabilizing,-0.530410945,damaging,https://doi.org/10.1101/2022.10.22.513328 +T598Q,NP_000240:p.Thr598Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26765,0.56088,0.1389007468971465,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0564,2.7435,-6.7515,loss_of_function,-2.08271016191257,0.7161962125115321,,,0.2787,benign,0.07971245,neutral,0.053999522,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598R,NP_000240:p.Thr598Arg,"hg19,3:g.37089071C>G",,0.0,0.643,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70066,0.62143,-0.1704680066890723,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0731,2.7435,-5.9442,loss_of_function,-2.26813669361668,0.6933051273242966,,,0.2399,benign,0.128461039,stabilizing,-0.091650666,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598S,NP_000240:p.Thr598Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30134,0.41429,0.2190445894133624,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,neutral,,,DOWN,-,neutral,neutral,,,,82.23,-,0.0637,2.7435,-3.0791,gain_of_function,-0.548560180924997,0.9055885156627422,,,0.1428,benign,-0.024179056,neutral,0.039068421,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598V,NP_000240:p.Thr598Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10745,0.21429,0.0712220010469044,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.0006,2.7435,-5.9442,loss_of_function,-2.67560954116205,0.6430022090799397,,,0.3463,ambiguous,-0.019792742,neutral,0.101535444,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598W,NP_000240:p.Thr598Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53568,1.4932,-0.3015320860951609,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.1695,2.7435,-22.0393,loss_of_function,-4.36740025790075,0.43414900420180835,,,0.8034,pathogenic,1.468415889,stabilizing,-0.060155869,neutral,https://doi.org/10.1101/2022.10.22.513328 +T598Y,NP_000240:p.Thr598Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06163,0.66667,-0.0619852955130112,Neutral,Neutral,False,0.015,,,,,,,Uncertain,Uncertain,Uncertain,67.3,,True,67.3,,uncertain,,,UP,-,neutral,neutral,,,,82.23,-,-0.1102,2.7435,-8.7514,loss_of_function,-4.36740025790075,0.43414900420180835,,,0.5979,pathogenic,1.014711472,stabilizing,-0.169693025,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599A,NP_000240:p.Glu599Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07683,0.31701,0.2059608463788809,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.0383,2.09,-4.5916,loss_of_function,-2.75591172760547,0.633088826277036,,,0.1566,benign,-0.029669976,neutral,-0.101181543,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599C,NP_000240:p.Glu599Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42883,1.15374,1.030255752602179,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.1967,2.09,-22.0493,loss_of_function,-2.88632403457136,0.6169893004929708,,,0.8857,pathogenic,-0.12104115,destabilizing,0.11089352,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599D,NP_000240:p.Glu599Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26732,0.26088,-0.0446878882609225,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,950858,Uncertain significance,2,79.9,G,0.0019,2.09,-3.4396,gain_of_function,-0.654498812085943,0.8925102888942339,,,0.206,benign,0.147947206,stabilizing,-0.076198162,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599F,NP_000240:p.Glu599Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13641,0.55272,-0.0625520123044243,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1744,2.09,-22.0493,loss_of_function,-4.52981069437529,0.41409927829436743,,,0.8902,pathogenic,0.110638225,stabilizing,-0.09595336,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599G,NP_000240:p.Glu599Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43002,1.06293,0.7644820153294257,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.0691,2.09,-5.5916,loss_of_function,-3.51539221967457,0.5393302228979923,,,0.2013,benign,0.008952891,neutral,-0.085257338,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599H,NP_000240:p.Glu599His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27716,0.47721,-0.2435638825404035,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.0898,2.09,-7.1765,loss_of_function,-3.35343381268385,0.5593241453272245,,,0.6056,pathogenic,0.11451861,stabilizing,-0.041545048,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599I,NP_000240:p.Glu599Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28314,0.56327,-0.0065949823170979,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1119,2.09,-8.7614,loss_of_function,-4.52981069437529,0.41409927829436743,,,0.4478,ambiguous,-0.047189031,neutral,-0.143392975,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599K,NP_000240:p.Glu599Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2408,0.15272,0.055753023232738,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,631334,Uncertain significance,2,79.9,G,-0.0633,2.09,-5.1766,loss_of_function,-2.6955860489691,0.640536089815603,,,0.1151,benign,-0.085038418,destabilizing,0.030120545,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599L,NP_000240:p.Glu599Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.04892,0.31837,-0.2411321766214214,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.114,2.09,-8.7614,loss_of_function,-3.80054936340907,0.5041272969251795,,,0.4454,ambiguous,0.039760682,neutral,0.005276489,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599M,NP_000240:p.Glu599Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08039,0.62041,0.0799707280776163,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1307,2.09,-22.0493,loss_of_function,-4.52981069437529,0.41409927829436743,,,0.5116,ambiguous,-0.077318369,neutral,-0.058699355,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599N,NP_000240:p.Glu599Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24813,0.3102,0.263061196974772,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.0714,2.09,-5.9542,loss_of_function,-1.72365302539101,0.7605221642707738,,,0.4094,ambiguous,0.134321026,stabilizing,-0.129956621,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599P,NP_000240:p.Glu599Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.5167,-0.57177,0.4200879363506182,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.1928,2.09,-4.1177,loss_of_function,-2.14411599470097,0.7086156028952371,,,0.3835,ambiguous,-0.038635703,neutral,0.045635035,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599Q,NP_000240:p.Glu599Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18362,0.37993,0.1852488629688953,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.0138,2.09,-5.1766,loss_of_function,-1.85351781722779,0.7444902297604415,,,0.1733,benign,-0.054268148,neutral,-0.048390148,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599R,NP_000240:p.Glu599Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22161,0.60442,0.0273216340786147,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1244,2.09,-5.3021,loss_of_function,-3.14870033663796,0.5845986915195881,,,0.2452,benign,0.107019619,neutral,-0.174313201,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599S,NP_000240:p.Glu599Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23679,0.21463,0.132276215619102,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.0547,2.09,-5.1766,loss_of_function,-2.39382942357509,0.6777882378994032,,,0.254,benign,0.093644372,neutral,0.084130767,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599T,NP_000240:p.Glu599Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41321,0.47517,0.2061153001850824,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,79.9,G,-0.0808,2.09,-7.1765,loss_of_function,-3.84679720994942,0.4984179554131964,,,0.2954,benign,-0.036053993,neutral,-0.152740095,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599V,NP_000240:p.Glu599Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47166,0.65612,0.1743135980810395,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,79.9,G,-0.0728,2.09,-8.7614,loss_of_function,-3.79269795764368,0.5050965605821296,,,0.244,benign,-0.168525171,destabilizing,-0.019339819,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599W,NP_000240:p.Glu599Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12002,0.29014,-0.5642964851583088,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1844,2.09,-22.0493,loss_of_function,-4.52981069437529,0.41409927829436743,,,0.9509,pathogenic,0.514179137,stabilizing,-0.158620698,neutral,https://doi.org/10.1101/2022.10.22.513328 +E599Y,NP_000240:p.Glu599Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08189,0.41701,-0.1250097550541329,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,98.0,,True,98.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.9,G,-0.1752,2.09,-22.0493,loss_of_function,-3.91541620671078,0.4899468737082684,,,0.783,pathogenic,0.205162008,stabilizing,0.046050315,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600A,NP_000240:p.Glu600Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19352,0.04694,0.4404052424829541,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.0031,2.4396,-3.9967,loss_of_function,-1.36442375885468,0.8048693656472906,,,0.1801,benign,-0.059923014,neutral,-0.30285879,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600C,NP_000240:p.Glu600Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15797,0.87959,1.0457070531850494,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.0886,2.4396,-7.1665,loss_of_function,-3.0286638363056,0.5994173139110717,,,0.8893,pathogenic,0.10854265,neutral,-0.146079397,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600D,NP_000240:p.Glu600Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27049,-0.07449,0.1924241254465913,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,0.0354,2.4396,-3.1666,gain_of_function,-0.0716219182491355,0.9644670067806519,,,0.1242,benign,0.056489115,neutral,0.095093532,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600F,NP_000240:p.Glu600Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11744,0.65952,0.1376590337359956,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.1421,2.4396,-22.0393,loss_of_function,-2.8710646450057,0.6188730869351944,,,0.884,pathogenic,0.94207057,stabilizing,-0.136560036,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600G,NP_000240:p.Glu600Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10726,0.46122,0.9013740618015156,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89890,Benign,3,81.42,G,-0.0369,2.4396,-5.5816,loss_of_function,-2.53093520143251,0.6608623966416668,,,0.2006,benign,-0.094638548,destabilizing,-0.014017666,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600H,NP_000240:p.Glu600His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06922,0.28844,-0.0181234747096248,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.0575,2.4396,-7.1665,loss_of_function,-3.06422497630915,0.5950272566862759,,,0.6848,pathogenic,0.062775552,neutral,-0.045359205,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600I,NP_000240:p.Glu600Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2479,0.73027,0.20980350369107,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.0695,2.4396,-6.7515,loss_of_function,-2.63349919540069,0.6482007721077239,,,0.5567,ambiguous,0.272388925,stabilizing,0.242604032,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600K,NP_000240:p.Glu600Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42748,-0.04728,0.1559855147186872,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,485795,Uncertain significance,1,81.42,G,-0.034,2.4396,-5.7515,loss_of_function,-2.18912020513622,0.7030597894666524,,,0.2581,benign,-0.156567535,destabilizing,-0.113900232,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600L,NP_000240:p.Glu600Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12209,0.16224,0.0076190547037741,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.0656,2.4396,-5.5816,loss_of_function,-3.51655433450432,0.5391867586951046,,,0.5811,pathogenic,0.198732359,stabilizing,-0.070724956,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600M,NP_000240:p.Glu600Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20588,0.55442,0.2610408866641533,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.0984,2.4396,-22.0393,loss_of_function,-3.51655433450432,0.5391867586951046,,,0.5865,pathogenic,0.224706483,stabilizing,-0.105816603,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600N,NP_000240:p.Glu600Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00995,-0.09048,0.3088034158780106,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.0299,2.4396,-4.1077,loss_of_function,-1.23531532740894,0.8208079267337421,,,0.3543,ambiguous,-0.035266895,neutral,0.004951792,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600P,NP_000240:p.Glu600Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6009,3.70918,2.0263092073125133,Uncertain,Uncertain,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.1762,2.4396,-7.1665,loss_of_function,-3.95248845930208,0.48537026816886086,,,0.8765,pathogenic,0.087282138,neutral,0.073753615,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600Q,NP_000240:p.Glu600Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48827,0.23333,0.3806108701023886,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,0.0178,2.4396,-5.2921,gain_of_function,-1.23135080936488,0.8212973503315352,,,0.2647,benign,0.013564766,neutral,-0.010765317,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600R,NP_000240:p.Glu600Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82205,0.33605,0.0681233688121207,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.1098,2.4396,-8.7514,loss_of_function,-3.51655433450432,0.5391867586951046,,,0.451,ambiguous,-0.054460276,neutral,-0.098606283,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600S,NP_000240:p.Glu600Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14286,-0.45748,0.43110897879584,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.0158,2.4396,-3.8447,loss_of_function,-1.94302152822508,0.7334409098266467,,,0.2851,benign,-0.028085063,neutral,-0.093087671,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600T,NP_000240:p.Glu600Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21942,-0.08605,0.3927569190977009,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,81.42,G,-0.0424,2.4396,-5.9442,loss_of_function,-2.03707760207661,0.7218295962830812,,,0.3348,benign,-0.01256143,neutral,0.085880511,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600V,NP_000240:p.Glu600Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33653,0.61735,0.3182579386428391,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,81.42,G,-0.0355,2.4396,-7.7515,loss_of_function,-2.74282784048711,0.6347040448320834,,,0.3314,benign,0.078610055,neutral,-0.120672951,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600W,NP_000240:p.Glu600Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00281,0.83639,-0.2227575946251064,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.1522,2.4396,-22.0393,loss_of_function,-3.49186229890931,0.5422350144385361,,,0.9512,pathogenic,1.259201772,stabilizing,-0.257566773,neutral,https://doi.org/10.1101/2022.10.22.513328 +E600Y,NP_000240:p.Glu600Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09589,0.4585,0.0824324285009608,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,104.0,,True,104.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,81.42,G,-0.0752,2.4396,-8.7514,loss_of_function,-3.49186229890931,0.5422350144385361,,,0.7489,pathogenic,0.568712396,stabilizing,-0.152594268,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601A,NP_000240:p.Asp601Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70718,1.10102,-0.1491976165411285,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.31,G,-0.0865,1.9579,-6.1565,loss_of_function,-2.95735691417553,0.6082202226098318,,,0.8813,pathogenic,0.058158672,neutral,-0.132866719,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601C,NP_000240:p.Asp601Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58654,1.37449,0.5333910162904448,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.31,G,-0.2089,1.9579,-22.0292,loss_of_function,-4.31690118009825,0.44038316433644586,,,0.9839,pathogenic,1.153905977,stabilizing,-0.260355024,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601E,NP_000240:p.Asp601Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4354,1.41701,-0.056066552406529,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,942266,Uncertain significance,1,80.31,G,-0.0257,1.9579,-5.041,loss_of_function,-1.6101768763702,0.7745309049298496,,,0.9067,pathogenic,-0.143014332,destabilizing,-0.04607252,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601F,NP_000240:p.Asp601Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34225,1.06497,-0.5658766059006259,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.2676,1.9579,-22.0292,loss_of_function,-4.77665925686083,0.3836255838328867,,,0.9682,pathogenic,2.719445842,stabilizing,-0.190159601,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601G,NP_000240:p.Asp601Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11798,2.38946,0.6928493955176614,Uncertain,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,89892,Uncertain significance,2,80.31,G,-0.0895,1.9579,-4.5715,loss_of_function,-2.96968905619508,0.606697807716363,,,0.867,pathogenic,0.014965902,neutral,-0.115004751,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601H,NP_000240:p.Asp601His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1823,0.9915,-0.3612555726280297,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1009,1.9579,-7.1565,loss_of_function,-4.77665925686083,0.3836255838328867,,,0.9691,pathogenic,0.960357287,stabilizing,-0.150925393,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601I,NP_000240:p.Asp601Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77619,1.87313,-0.3707317030481344,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1802,1.9579,-6.4195,loss_of_function,-2.52827927618771,0.6611902731891647,,,0.9463,pathogenic,1.447265287,stabilizing,-0.141209982,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601K,NP_000240:p.Asp601Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30328,1.1585,-0.2135261287358064,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1602,1.9579,-6.7414,loss_of_function,-3.51647390703614,0.5391966875440595,,,0.9833,pathogenic,-0.521765306,destabilizing,-0.09966946,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601L,NP_000240:p.Asp601Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01537,0.6085,-0.785336073200894,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.162,1.9579,-4.0976,loss_of_function,-2.49905779126393,0.6647976938454232,,,0.9331,pathogenic,1.566573984,stabilizing,-0.269041457,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601M,NP_000240:p.Asp601Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49857,0.2602,-0.5418352687192451,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1112,1.9579,-6.1565,loss_of_function,-2.5329673157031,0.6606115301639801,,,0.9684,pathogenic,0.435661774,stabilizing,-0.17173749,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601N,NP_000240:p.Asp601Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3973,0.32891,-0.1178241976395222,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,-,-,uncertain,neutral,1356935,Uncertain significance,2,80.31,G,-0.0502,1.9579,-5.5715,loss_of_function,-2.21985735669659,0.699265258294036,,,0.8528,pathogenic,-0.186252683,destabilizing,-0.12865546,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601P,NP_000240:p.Asp601Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89782,7.27585,5.243062976982259,Uncertain,Uncertain,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.31,G,-0.2315,1.9579,-7.7414,loss_of_function,-3.62937116567564,0.5252594114640319,,,0.9972,pathogenic,0.419540922,stabilizing,-0.300865607,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601Q,NP_000240:p.Asp601Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50438,0.32449,-0.1300634450644061,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1148,1.9579,-6.4195,loss_of_function,-1.939121138221,0.7339224167557052,,,0.9807,pathogenic,-0.372435892,destabilizing,-0.052817731,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601R,NP_000240:p.Asp601Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00713,0.78844,-0.4709510337509293,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.1895,1.9579,-6.4195,loss_of_function,-3.4399934976311,0.5486382682647682,,,0.9814,pathogenic,-0.35428987,destabilizing,0.086150315,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601S,NP_000240:p.Asp601Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88074,0.84762,0.3227105410783815,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,80.31,G,-0.0857,1.9579,-4.7415,loss_of_function,-3.0515312042061,0.5965943151643041,,,0.909,pathogenic,-0.126243687,destabilizing,-0.113324461,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601T,NP_000240:p.Asp601Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.58746,1.4602,0.0883984161891565,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.31,G,-0.1208,1.9579,-5.7415,loss_of_function,-2.99119332043576,0.6040430854384974,,,0.9624,pathogenic,0.119971287,stabilizing,-0.096442292,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601V,NP_000240:p.Asp601Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14837,1.66803,-0.1910009761156511,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.2145,1.9579,-22.0292,loss_of_function,-4.24554154589218,0.44919258039211435,,,0.8648,pathogenic,1.266089906,stabilizing,-0.08775299,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601W,NP_000240:p.Asp601Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.9872,-0.66531,-1.0160414216965552,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.31,G,-0.248,1.9579,-22.0292,loss_of_function,-4.77665925686083,0.3836255838328867,,,0.9852,pathogenic,0.359823923,stabilizing,-0.159224904,neutral,https://doi.org/10.1101/2022.10.22.513328 +D601Y,NP_000240:p.Asp601Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37797,0.77415,-0.5297767274633625,Neutral,Neutral,False,0.004,,,,,,,Uncertain,Uncertain,Uncertain,61.1,,True,61.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1440196,Uncertain significance,2,80.31,G,-0.1344,1.9579,-6.7414,loss_of_function,-3.11523421952729,0.5887301161362595,,,0.7467,pathogenic,2.127739762,stabilizing,-0.215994969,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602A,NP_000240:p.Gly602Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.10281,4.61497,2.402945925651601,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.0972,2.1714,-5.2582,loss_of_function,-3.44414038910416,0.5481263304902781,,,0.8034,pathogenic,0.592378166,stabilizing,-0.120456188,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602C,NP_000240:p.Gly602Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2764,5.19422,2.8341545493283937,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1746,2.1714,-8.7175,loss_of_function,-4.79987644083409,0.380759399952644,,,0.9007,pathogenic,1.722685328,stabilizing,-0.245976028,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602D,NP_000240:p.Gly602Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34447,4.67313,2.1263851916493888,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,820110,Uncertain significance,2,84.73,-,-0.1582,2.1714,-5.3957,loss_of_function,-3.63002910828798,0.5251781878103888,,,0.967,pathogenic,-0.106265063,destabilizing,0.02079921,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602E,NP_000240:p.Gly602Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12366,4.77551,2.5429809684370555,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1613,2.1714,-6.1327,loss_of_function,-3.25331870309665,0.5716834527091207,,,0.9595,pathogenic,-0.132589671,destabilizing,0.020848461,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602F,NP_000240:p.Gly602Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.27726,4.87687,2.091704055055051,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1882,2.1714,-3.9103,loss_of_function,-4.30528430625749,0.44181727867949216,,,0.971,pathogenic,2.467911354,stabilizing,-0.149493025,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602H,NP_000240:p.Gly602His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.38136,4.80204,1.914803310408144,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2552,2.1714,-22.0054,loss_of_function,-5.25266390035962,0.32486234890791965,,,0.9871,pathogenic,0.118868895,stabilizing,-0.262397719,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602I,NP_000240:p.Gly602Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.26687,5.29048,3.406966677585316,Destabilizing,Destabilizing,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2503,2.1714,-7.1327,loss_of_function,-3.21564825256868,0.5763339063640125,,,0.9053,pathogenic,2.388519316,stabilizing,-0.248751924,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602K,NP_000240:p.Gly602Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88342,4.57517,2.2509616630524154,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.187,2.1714,-4.7177,loss_of_function,-2.98646431858004,0.6046268853043258,,,0.9762,pathogenic,-0.24758208,destabilizing,-0.172487755,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602L,NP_000240:p.Gly602Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.27741,4.46837,2.233085431176528,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2032,2.1714,-4.1327,loss_of_function,-2.93870329798522,0.6105230296209868,,,0.9487,pathogenic,2.537124274,stabilizing,-0.16109539,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602M,NP_000240:p.Gly602Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89738,4.82517,2.28181127207331,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1479,2.1714,-5.3957,loss_of_function,-2.59093146084201,0.6534558002261663,,,0.9597,pathogenic,1.079346442,stabilizing,-0.094449436,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602N,NP_000240:p.Gly602Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.20522,4.57517,1.8753066730785213,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1652,2.1714,-6.7176,loss_of_function,-3.35861444412573,0.5586845913509414,,,0.971,pathogenic,0.057446427,neutral,-0.298993875,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602P,NP_000240:p.Gly602Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.88994,23.96905,7.755456359413455,Destabilizing,Destabilizing,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2607,2.1714,-6.3957,loss_of_function,-3.96881279549601,0.4833550130324674,,,0.9962,pathogenic,1.763857029,stabilizing,-0.174816581,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602Q,NP_000240:p.Gly602Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.11153,4.32245,2.471471027084849,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1652,2.1714,-6.1327,loss_of_function,-3.25738012497659,0.5711820662387995,,,0.9651,pathogenic,-0.260009713,destabilizing,-0.134026526,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602R,NP_000240:p.Gly602Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.82742,4.35578,2.1866311312130016,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1863,2.1714,-7.7176,loss_of_function,-3.90661249508841,0.49103370044692046,,,0.9517,pathogenic,-0.285416699,destabilizing,-0.27788586,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602S,NP_000240:p.Gly602Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.57305,4.58503,2.20181470599118,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,922081,Uncertain significance,1,84.73,-,-0.1054,2.1714,-5.7177,loss_of_function,-3.32028502940765,0.563416394774243,,,0.7451,pathogenic,0.34063415,stabilizing,-0.167326844,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602T,NP_000240:p.Gly602Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.60904,4.59932,2.8900465783997564,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1845,2.1714,-6.1327,loss_of_function,-4.79987644083409,0.380759399952644,,,0.9087,pathogenic,0.274892773,stabilizing,-0.246361352,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602V,NP_000240:p.Gly602Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.53393,5.23231,3.368496120876756,Destabilizing,Destabilizing,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.1914,2.1714,-6.7176,loss_of_function,-3.20970979818954,0.5770670143169259,,,0.8954,pathogenic,2.183381456,stabilizing,-0.104232418,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602W,NP_000240:p.Gly602Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.19326,4.67517,1.9686603329246888,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2803,2.1714,-22.0054,loss_of_function,-5.25266390035962,0.32486234890791965,,,0.9651,pathogenic,1.701837883,stabilizing,-0.19737829,neutral,https://doi.org/10.1101/2022.10.22.513328 +G602Y,NP_000240:p.Gly602Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25819,4.88265,2.229334228577984,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,True,66.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.73,-,-0.2131,2.1714,-8.7175,loss_of_function,-5.25266390035962,0.32486234890791965,,,0.9596,pathogenic,1.11479831,stabilizing,-0.048784302,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603A,NP_000240:p.Pro603Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83904,0.78639,0.4263953535505393,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.19,-,-0.0466,2.1928,-6.6935,loss_of_function,-1.92672963710195,0.7354521595875808,,,0.1958,benign,1.494823422,stabilizing,-0.180447737,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603C,NP_000240:p.Pro603Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05441,1.67245,0.8802314840222031,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.19,-,-0.0844,2.1928,-7.6934,loss_of_function,-3.94637171862276,0.48612538573845426,,,0.7445,pathogenic,1.782509916,stabilizing,-0.09075565,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603D,NP_000240:p.Pro603Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06933,0.40238,-0.0437252929699494,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.19,-,-0.0869,2.1928,-3.1085,loss_of_function,-2.02445965603378,0.7233872939604301,,,0.544,ambiguous,0.019346967,neutral,0.141041347,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603E,NP_000240:p.Pro603Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90193,0.60238,0.075484935186138,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.0758,2.1928,-4.1085,loss_of_function,-2.23428163413742,0.6974845672536122,,,0.3997,ambiguous,0.062058091,neutral,0.209858068,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603F,NP_000240:p.Pro603Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96053,0.8398,-0.1738228572983668,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.1179,2.1928,-8.6933,loss_of_function,-3.79399397871863,0.504936565523394,,,0.8475,pathogenic,1.901600985,stabilizing,-0.197162908,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603G,NP_000240:p.Pro603Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17371,1.56259,0.945094798209802,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.19,-,-0.0631,2.1928,-7.1085,loss_of_function,-3.39448852022429,0.5542559018616945,,,0.5697,pathogenic,2.503044205,stabilizing,-0.030620592,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603H,NP_000240:p.Pro603His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09754,0.00918,-0.2558836868686942,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.0955,2.1928,-8.6933,loss_of_function,-4.59495443200927,0.40605722069942785,,,0.4318,ambiguous,0.234071112,stabilizing,-0.172018383,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603I,NP_000240:p.Pro603Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96268,1.0602,-0.0977499556360317,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.0958,2.1928,-7.6934,loss_of_function,-4.70462463445036,0.392518327837071,,,0.736,pathogenic,0.938041626,stabilizing,-0.099978624,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603K,NP_000240:p.Pro603Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82735,0.3983,0.0960943677879522,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.079,2.1928,-6.3715,loss_of_function,-3.34388589732939,0.5605028447384189,,,0.5633,ambiguous,-0.195881068,destabilizing,0.013799049,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603L,NP_000240:p.Pro603Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90243,0.72959,-0.2390418336545324,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,237322,Uncertain significance,2,89.19,-,-0.0879,2.1928,-5.234,loss_of_function,-3.56529648130808,0.533169493396339,,,0.3098,benign,0.858954763,stabilizing,-0.179156389,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603M,NP_000240:p.Pro603Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04282,1.32041,0.0940669059511756,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.1243,2.1928,-21.9812,loss_of_function,-4.70462463445036,0.392518327837071,,,0.6069,pathogenic,1.969554316,stabilizing,-0.103386972,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603N,NP_000240:p.Pro603Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93291,0.5551,0.0356561578582198,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.19,-,-0.0717,2.1928,-6.3715,loss_of_function,-2.76010266597535,0.6325714508704117,,,0.5516,ambiguous,0.68069308,stabilizing,-0.029600708,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603Q,NP_000240:p.Pro603Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8257,0.81871,0.3219371532180959,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.075,2.1928,-6.6935,loss_of_function,-3.83944752961525,0.49932528057903025,,,0.3544,ambiguous,0.100414341,neutral,-0.191202776,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603R,NP_000240:p.Pro603Arg,"hg19,3:g.37089086C>G, hg38,3:g.37047595C>G",0.000127502231289,0.0001591444394933,0.821,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79191,0.47789,-0.0958664257606034,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,41636,Likely benign,3,89.19,-,-0.1164,2.1928,-6.6935,loss_of_function,-4.55325975612959,0.4112044688771533,,,0.4409,ambiguous,0.373306814,stabilizing,-0.15759841,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603S,NP_000240:p.Pro603Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23871,0.90408,0.3135473999288002,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,820114,Uncertain significance,2,89.19,-,-0.0293,2.1928,-3.3716,loss_of_function,-1.42516503451731,0.7973707962527373,,,0.2477,benign,1.31863574,stabilizing,0.081215447,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603T,NP_000240:p.Pro603Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06622,0.74796,0.3349390464390755,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.19,-,-0.0503,2.1928,-5.1085,loss_of_function,-2.50304646500142,0.6643052882038472,,,0.2788,benign,0.051270755,neutral,-0.103674466,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603V,NP_000240:p.Pro603Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17408,0.92857,-0.03870268284683,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.0563,2.1928,-8.6933,loss_of_function,-4.70462463445036,0.392518327837071,,,0.5734,pathogenic,0.452840951,stabilizing,-0.197775339,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603W,NP_000240:p.Pro603Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19209,0.47789,-0.4281127006423701,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.1982,2.1928,-21.9812,loss_of_function,-4.59495443200927,0.40605722069942785,,,0.8969,pathogenic,2.176646177,stabilizing,-0.193643698,neutral,https://doi.org/10.1101/2022.10.22.513328 +P603Y,NP_000240:p.Pro603Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97138,0.4415,-0.1613225232418408,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,82.3,,False,82.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.19,-,-0.1867,2.1928,-21.9812,loss_of_function,-4.59495443200927,0.40605722069942785,,,0.8087,pathogenic,1.451113355,stabilizing,-0.121360244,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604A,NP_000240:p.Lys604Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56996,1.85884,1.2905365870087928,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0269,2.2957,-5.7177,loss_of_function,-2.93572435615889,0.6108907828787739,,,0.777,pathogenic,1.990837251,stabilizing,-0.286414621,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604C,NP_000240:p.Lys604Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29698,2.13537,1.50465652540488,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.1124,2.2957,-8.7175,loss_of_function,-4.32173544446029,0.4397863697121163,,,0.9419,pathogenic,2.834067762,stabilizing,-0.191998281,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604D,NP_000240:p.Lys604Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.27585,3.17585,1.889874754451475,Destabilizing,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.1369,2.2957,-5.9103,loss_of_function,-3.07134869499669,0.5941478267048825,,,0.9777,pathogenic,0.074247433,neutral,-0.615384689,damaging,https://doi.org/10.1101/2022.10.22.513328 +K604E,NP_000240:p.Lys604Glu,,,,,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50727,2.25374,1.3683565674789506,Uncertain,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.051,2.2957,-5.5477,loss_of_function,-3.12863622348089,0.5870756257493548,,,0.4779,ambiguous,0.295387262,stabilizing,-0.592619491,damaging,https://doi.org/10.1101/2022.10.22.513328 +K604F,NP_000240:p.Lys604Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.23645,1.06531,0.6268862274177347,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.36,H,-0.1134,2.2957,-8.7175,loss_of_function,-4.05487576966415,0.47273045539746056,,,0.989,pathogenic,1.914440676,stabilizing,-0.074814987,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604G,NP_000240:p.Lys604Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53331,3.45816,2.234434482773716,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0934,2.2957,-7.1327,loss_of_function,-5.30775057679384,0.31806184527260595,,,0.8903,pathogenic,2.311713178,stabilizing,-0.44541335,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604H,NP_000240:p.Lys604His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.87614,1.78435,0.8835359261121819,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0472,2.2957,-7.7176,loss_of_function,-3.61927701717097,0.5265055438874207,,,0.8621,pathogenic,0.614451415,stabilizing,-0.200399483,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604I,NP_000240:p.Lys604Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06896,1.16905,0.3991961075408823,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.36,H,-0.0636,2.2957,-5.3957,loss_of_function,-2.84845444089883,0.6216643385622109,,,0.8367,pathogenic,1.615256862,stabilizing,-0.28079049,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604L,NP_000240:p.Lys604Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24551,1.16769,0.2852955231687554,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.36,H,-0.0691,2.2957,-6.7176,loss_of_function,-2.79333548367781,0.6284688272919648,,,0.8062,pathogenic,2.136078985,stabilizing,-0.306293941,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604M,NP_000240:p.Lys604Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13301,0.65748,0.7141162730729441,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0324,2.2957,-4.8108,loss_of_function,-2.3801766296538,0.6794736885510647,,,0.599,pathogenic,0.874541409,stabilizing,-0.152589452,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604N,NP_000240:p.Lys604Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34251,1.71667,1.1802598566372997,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0452,2.2957,-5.7177,loss_of_function,-3.11701519099759,0.5885102534808563,,,0.9505,pathogenic,1.789623575,stabilizing,-0.353590796,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604P,NP_000240:p.Lys604Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.88708,1.63537,2.035375345484216,Neutral,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.2085,2.2957,-7.1327,loss_of_function,-3.20468223183085,0.5776876722602287,,,0.8945,pathogenic,1.41388727,stabilizing,-0.049809945,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604Q,NP_000240:p.Lys604Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63444,1.23095,1.174941816560217,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,2866738,Uncertain significance,1,89.36,H,-0.0334,2.2957,-7.1327,loss_of_function,-1.51477543337496,0.7863083055991026,,,0.3131,benign,0.301405302,stabilizing,-0.004042739,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604R,NP_000240:p.Lys604Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10393,0.84524,0.4686645544158657,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,-,-,uncertain,neutral,422053,Uncertain significance,2,89.36,H,0.0478,2.2957,-4.0738,gain_of_function,-0.730547557217698,0.8831219975467407,,,0.1161,benign,0.705509919,stabilizing,-0.088374648,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604S,NP_000240:p.Lys604Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67174,2.61429,1.4990384758088118,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0371,2.2957,-5.7177,loss_of_function,-3.06758120888711,0.5946129265192593,,,0.8906,pathogenic,2.085034151,stabilizing,-0.169236116,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604T,NP_000240:p.Lys604Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.58704,2.1932,1.2581276020194287,Uncertain,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0481,2.2957,-5.5477,loss_of_function,-2.66477098343921,0.6443402395433268,,,0.6967,pathogenic,2.08225156,stabilizing,-0.31083853,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604V,NP_000240:p.Lys604Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0725,1.17245,0.5575115496764723,Neutral,Neutral,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.36,H,-0.0424,2.2957,-4.3957,loss_of_function,-2.74945161897816,0.6338863329528472,,,0.7198,pathogenic,2.145719314,stabilizing,-0.254250016,neutral,https://doi.org/10.1101/2022.10.22.513328 +K604W,NP_000240:p.Lys604Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.04486,1.63435,0.4199709970101856,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.36,H,-0.1062,2.2957,-5.5477,loss_of_function,-4.68813324598503,0.39455420573839556,,,0.9805,pathogenic,1.343626362,stabilizing,-0.718897063,damaging,https://doi.org/10.1101/2022.10.22.513328 +K604Y,NP_000240:p.Lys604Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.6526,1.01122,0.8005706205094387,Uncertain,Uncertain,False,0.002,,,,,,,Uncertain,Uncertain,Uncertain,24.2,,False,24.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.36,H,-0.088,2.2957,-6.7176,loss_of_function,-3.53020196449387,0.5375019455358251,,,0.9693,pathogenic,2.006306773,stabilizing,-0.270160247,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605A,NP_000240:p.Glu605Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94539,0.46395,0.5364529152216959,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,948831,Uncertain significance,1,90.46,H,-0.0622,1.9039,-5.9273,loss_of_function,-2.92305760439621,0.6124545056695758,,,0.1847,benign,-0.064240007,neutral,0.158130565,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605C,NP_000240:p.Glu605Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30536,1.11088,1.319610671279327,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.1459,1.9039,-8.7346,loss_of_function,-2.49653218525451,0.6651094823569144,,,0.8889,pathogenic,0.004742438,neutral,-0.089259694,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605D,NP_000240:p.Glu605Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77818,0.49626,0.1837700734776459,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.012,1.9039,-2.804,loss_of_function,-0.621837210032511,0.8965423953467764,,,0.1767,benign,0.100071564,neutral,-0.055216508,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605F,NP_000240:p.Glu605Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0355,0.16497,0.1757118919816847,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1235,1.9039,-8.7346,loss_of_function,-4.47339835739234,0.4210634360102027,,,0.8587,pathogenic,0.428808555,stabilizing,-0.164410779,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605G,NP_000240:p.Glu605Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70877,1.52143,1.0187100979406916,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2452026,Uncertain significance,1,90.46,H,-0.0904,1.9039,-6.4128,loss_of_function,-2.94504665815339,0.6097399356556927,,,0.2069,benign,0.687777215,stabilizing,-0.055847877,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605H,NP_000240:p.Glu605His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0091,0.21973,0.1574893592624526,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1046,1.9039,-6.7347,loss_of_function,-2.8130036005276,0.6260407791904156,,,0.6217,pathogenic,0.401097213,stabilizing,-0.150915591,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605I,NP_000240:p.Glu605Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11238,-0.01973,0.221678103559248,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1289,1.9039,-8.7346,loss_of_function,-3.61166638563541,0.5274450837321673,,,0.4833,ambiguous,0.082299647,neutral,-0.013131102,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605K,NP_000240:p.Glu605Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25869,0.13946,0.2525308144637833,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.0803,1.9039,-5.1497,loss_of_function,-2.48480947137317,0.6665566627556265,,,0.1967,benign,-0.188657403,destabilizing,-0.126739908,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605L,NP_000240:p.Glu605Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01713,-0.18265,-0.0095439834080335,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.131,1.9039,-8.7346,loss_of_function,-3.24258720227622,0.5730082668940688,,,0.5385,ambiguous,0.004701781,neutral,0.058105197,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605M,NP_000240:p.Glu605Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16784,0.25612,0.3605016801863508,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1476,1.9039,-22.0224,loss_of_function,-4.32445101927545,0.43945112936730235,,,0.5744,pathogenic,0.110359144,stabilizing,-0.175453263,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605N,NP_000240:p.Glu605Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34667,0.45102,0.4864900365535846,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.0909,1.9039,-6.4128,loss_of_function,-1.61287657049129,0.7741976250721216,,,0.3953,ambiguous,0.009474318,neutral,0.01627433,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605P,NP_000240:p.Glu605Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24391,3.78537,1.1149561226822653,Uncertain,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.2203,1.9039,-6.1497,loss_of_function,-3.31214639493263,0.5644211170939849,,,0.7192,pathogenic,-0.099800501,destabilizing,0.01059891,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605Q,NP_000240:p.Glu605Gln,"hg19,3:g.37089091G>C",,,0.741,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50108,0.32755,0.4635476814122785,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.0372,1.9039,-6.4128,loss_of_function,-1.84353651289077,0.7457224314618843,,,0.2109,benign,-0.067327115,neutral,0.002561569,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605R,NP_000240:p.Glu605Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73743,0.60544,0.2380525992966753,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1386,1.9039,-4.7347,loss_of_function,-2.52497440566903,0.6615982626601461,,,0.3622,ambiguous,-0.046084795,neutral,-0.085594884,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605S,NP_000240:p.Glu605Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29332,0.77279,0.502392290417922,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.0768,1.9039,-6.1497,loss_of_function,-2.40952045423398,0.6758511649455644,,,0.3078,benign,0.043663206,neutral,-0.038484404,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605T,NP_000240:p.Glu605Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06187,0.41224,0.4995131674000008,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.46,H,-0.0927,1.9039,-6.1497,loss_of_function,-2.79533748291906,0.6282216785438592,,,0.3138,benign,0.013669498,neutral,-0.042324011,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605V,NP_000240:p.Glu605Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77907,-0.07925,0.3613762651529184,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.46,H,-0.0796,1.9039,-6.7347,loss_of_function,-3.55239120923882,0.5347626617503332,,,0.2625,benign,0.04294932,neutral,0.024165702,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605W,NP_000240:p.Glu605Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18851,-0.02347,-0.2965196315745122,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.2014,1.9039,-22.0224,loss_of_function,-4.47339835739234,0.4210634360102027,,,0.936,pathogenic,0.726560154,stabilizing,-0.096833618,neutral,https://doi.org/10.1101/2022.10.22.513328 +E605Y,NP_000240:p.Glu605Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11216,-0.04592,0.170422429844913,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,83.3,,False,83.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.46,H,-0.1922,1.9039,-22.0224,loss_of_function,-4.47339835739234,0.4210634360102027,,,0.7195,pathogenic,0.45185412,stabilizing,-0.112954358,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606A,NP_000240:p.Gly606Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.93566,-0.9983,-0.6869154281099982,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,629994,Uncertain significance,2,89.36,H,-0.0403,2.7178,-3.9628,loss_of_function,-2.31610121028833,0.6873838612195766,,,0.2175,benign,0.232176265,stabilizing,-0.291812248,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606C,NP_000240:p.Gly606Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19409,-0.10544,0.2139501921097025,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1243,2.7178,-8.7175,loss_of_function,-3.51978773990943,0.5387875916617085,,,0.3695,ambiguous,0.595348746,stabilizing,-0.095485789,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606D,NP_000240:p.Gly606Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71266,-0.73503,-0.3653097077263234,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.0985,2.7178,-3.5478,loss_of_function,-1.36116399951654,0.8052717860992803,,,0.388,ambiguous,-0.191881462,destabilizing,-0.101218327,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606E,NP_000240:p.Gly606Glu,"hg19,3:g.37089095G>A, hg38,3:g.37047604G>A",,,0.384,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.93221,-1.04184,-0.6627339236933705,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.0924,2.7178,-2.4889,loss_of_function,-0.676367834552265,0.8898105368596277,,,0.2925,benign,-0.166760987,destabilizing,-0.05444897,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606F,NP_000240:p.Gly606Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.71965,-1.39456,-0.7990022900377314,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1624,2.7178,-8.7175,loss_of_function,-4.19974378873594,0.45484635793307976,,,0.7388,pathogenic,0.69103232,stabilizing,-0.053308599,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606H,NP_000240:p.Gly606His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02053,-0.95034,-0.7263474866325081,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1253,2.7178,-6.3957,loss_of_function,-2.69734668064142,0.6403187381279882,,,0.6632,pathogenic,0.214305642,stabilizing,-0.186353839,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606I,NP_000240:p.Gly606Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5625,-0.92959,-0.8973578391750747,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.2759,2.7178,-22.0054,loss_of_function,-2.89647735469139,0.6157358632762744,,,0.386,ambiguous,0.650779511,stabilizing,0.064411762,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606K,NP_000240:p.Gly606Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.05544,-0.77823,-0.6531642291620637,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.134,2.7178,-4.1941,loss_of_function,-2.51813457441442,0.662442646462597,,,0.6483,pathogenic,-0.228161237,destabilizing,-0.187641416,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606L,NP_000240:p.Gly606Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.13267,-0.89864,-1.179738733856912,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.2442,2.7178,-22.0054,loss_of_function,-3.96434398913899,0.48390669151161325,,,0.6157,pathogenic,0.532227304,stabilizing,-0.084498704,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606M,NP_000240:p.Gly606Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.5196,-1.40102,-0.8018329571178556,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1043,2.7178,-6.7176,loss_of_function,-2.81985272128933,0.6251952485893006,,,0.5887,pathogenic,0.40103113,stabilizing,-0.113231763,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606N,NP_000240:p.Gly606Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.32395,-0.55204,-0.3920123401672154,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1108,2.7178,-5.9103,loss_of_function,-1.63764609198203,0.7711398036197074,,,0.4837,ambiguous,0.298441093,stabilizing,-0.154546023,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606P,NP_000240:p.Gly606Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.42076,3.61088,3.1377227411336985,Uncertain,Uncertain,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.2222,2.7178,-8.7175,loss_of_function,-3.6080605467623,0.5278902280384175,,,0.9469,pathogenic,2.546794866,stabilizing,-0.170342559,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606Q,NP_000240:p.Gly606Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.04468,-0.82041,-0.475032910541211,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1047,2.7178,-4.1327,loss_of_function,-1.31508116128291,0.8109607571757547,,,0.5304,ambiguous,-0.10234581,destabilizing,-0.04563372,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606R,NP_000240:p.Gly606Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.87892,-0.36361,-0.9131789147395593,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1050240,Uncertain significance,0,89.36,H,-0.1411,2.7178,-8.7175,loss_of_function,-2.88540399833302,0.6171028798589527,,,0.5875,pathogenic,0.558511978,stabilizing,-0.06569377,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606S,NP_000240:p.Gly606Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67349,-0.53571,-0.2658466292535777,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.0505,2.7178,-4.8108,loss_of_function,-1.08940382914004,0.8388208427170945,,,0.1931,benign,-0.077502203,neutral,-0.072659813,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606T,NP_000240:p.Gly606Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10336,-0.81327,-0.4408502767721173,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1321,2.7178,-5.7177,loss_of_function,-2.39825813223421,0.6772415095199547,,,0.3068,benign,-0.017333932,neutral,0.066179908,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606V,NP_000240:p.Gly606Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15766,-1.25,-0.6982124057061639,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1361,2.7178,-5.7177,loss_of_function,-2.50231844192692,0.6643951633585161,,,0.2708,benign,0.477476432,stabilizing,-0.029987963,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606W,NP_000240:p.Gly606Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98092,-1.9619,-1.251191742484257,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.23,2.7178,-22.0054,loss_of_function,-4.19974378873594,0.45484635793307976,,,0.6542,pathogenic,0.726310622,stabilizing,-0.017185886,neutral,https://doi.org/10.1101/2022.10.22.513328 +G606Y,NP_000240:p.Gly606Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.70372,-1.49116,-0.7365157436221242,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,63.4,,False,63.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.36,H,-0.1628,2.7178,-8.7175,loss_of_function,-4.19974378873594,0.45484635793307976,,,0.5581,ambiguous,0.1748607,stabilizing,0.095524711,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607A,NP_000240:p.Leu607Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70031,2.02959,1.962880883623765,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.1482,1.9891,-4.9408,loss_of_function,-3.14538946639288,0.585007421662613,,,0.9463,pathogenic,-0.099138456,destabilizing,-0.16758637,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607C,NP_000240:p.Leu607Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89266,2.22687,2.0942741077012497,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.2247,1.9891,-22.0359,loss_of_function,-4.41081085816713,0.4287899234942404,,,0.9777,pathogenic,-0.343963747,destabilizing,-0.125235276,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607D,NP_000240:p.Leu607Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.62964,3.4932,2.6059442271346644,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.2811,1.9891,-7.1632,loss_of_function,-3.33151207832396,0.5620304046962179,,,0.9981,pathogenic,-0.379212498,destabilizing,-0.661742252,damaging,https://doi.org/10.1101/2022.10.22.513328 +L607E,NP_000240:p.Leu607Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.79185,2.82041,2.052583071879478,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.2521,1.9891,-7.7481,loss_of_function,-4.57995234885936,0.40790924241506116,,,0.9879,pathogenic,-0.451991283,destabilizing,-0.098167712,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607F,NP_000240:p.Leu607Phe,"hg38,3:g.37047606C>T",,,0.849,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43747,3.91156,0.7441231865418854,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.89,H,-0.093,1.9891,-7.1632,loss_of_function,-3.37783912153534,0.5563112862783818,,,0.845,pathogenic,-0.196291469,destabilizing,-0.08613068,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607G,NP_000240:p.Leu607Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.01421,3.89286,3.253904331368584,Destabilizing,Destabilizing,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.2374,1.9891,-7.7481,loss_of_function,-5.44200426789726,0.3014880968909386,,,0.9917,pathogenic,-0.301650704,destabilizing,-0.171066384,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607H,NP_000240:p.Leu607His,"hg19,3:g.37089098T>A, hg38,3:g.37047607T>A",0.0001910341314315,0.000186969424532,0.934,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.63806,2.57823,1.360717308871599,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89895,Likely benign,3,89.89,H,-0.21,1.9891,-8.7481,loss_of_function,-4.72694753035426,0.38976254468637617,,,0.9754,pathogenic,-0.342254267,destabilizing,-0.035121995,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607I,NP_000240:p.Leu607Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11149,-0.08027,0.2614804815627664,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,-,-,uncertain,neutral,2773581,Uncertain significance,1,89.89,H,-0.01,1.9891,-2.5194,loss_of_function,-1.66463125152704,0.7678084595005084,,,0.4527,ambiguous,-0.378633252,destabilizing,-0.006082133,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607K,NP_000240:p.Leu607Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74953,2.12449,1.8171052271844683,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.89,H,-0.2562,1.9891,-8.7481,loss_of_function,-3.54799194662895,0.5353057549864416,,,0.9708,pathogenic,-0.490359345,destabilizing,0.133793852,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607M,NP_000240:p.Leu607Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.62627,0.55,0.7723541138947728,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.89,H,-0.0451,1.9891,-4.8413,loss_of_function,-1.65536908247052,0.7689518832540719,,,0.4768,ambiguous,-0.102052078,destabilizing,-0.107867012,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607N,NP_000240:p.Leu607Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3615,2.28401,1.9678426810452805,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.2355,1.9891,-8.7481,loss_of_function,-3.36783659409663,0.5575461079923129,,,0.9902,pathogenic,-0.333558514,destabilizing,-0.086975065,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607P,NP_000240:p.Leu607Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91456,10.11565,6.322478215659837,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.3188,1.9891,-22.0359,loss_of_function,-5.44200426789726,0.3014880968909386,,,0.9907,pathogenic,0.806865727,stabilizing,-0.269210145,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607Q,NP_000240:p.Leu607Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44993,1.91463,1.615744316494518,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.1782,1.9891,-6.7482,loss_of_function,-3.26926949582346,0.5697143118760494,,,0.9702,pathogenic,-0.493950128,destabilizing,-0.013102391,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607R,NP_000240:p.Leu607Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22604,1.73367,1.2107184228247765,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,3076111,Uncertain significance,1,89.89,H,-0.3156,1.9891,-22.0359,loss_of_function,-4.77941238153729,0.383285707921275,,,0.9426,pathogenic,-0.566653467,destabilizing,0.059048412,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607S,NP_000240:p.Leu607Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64117,2.9881,2.497625335391889,Uncertain,Uncertain,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.198,1.9891,-8.7481,loss_of_function,-3.14760758371584,0.5847335929277035,,,0.9891,pathogenic,-0.353634492,destabilizing,-0.234345323,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607T,NP_000240:p.Leu607Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94985,1.82721,1.734966953107195,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.89,H,-0.1606,1.9891,-6.7482,loss_of_function,-3.10192660859189,0.5903729536135139,,,0.9529,pathogenic,-0.290531128,destabilizing,0.036802696,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607V,NP_000240:p.Leu607Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78755,0.77653,0.6460396035323523,Neutral,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,455406,Uncertain significance,1,89.89,H,-0.0484,1.9891,-2.9408,loss_of_function,-1.743880952824,0.7580250070097585,,,0.5683,pathogenic,-0.083139535,destabilizing,-0.074313256,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607W,NP_000240:p.Leu607Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19228,4.91224,0.6548739405064671,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.89,H,-0.2681,1.9891,-22.0359,loss_of_function,-4.72694753035426,0.38976254468637617,,,0.9464,pathogenic,0.104136593,neutral,-0.022913205,neutral,https://doi.org/10.1101/2022.10.22.513328 +L607Y,NP_000240:p.Leu607Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13661,2.96905,1.1041077259113454,Uncertain,Neutral,False,0.019,,,,,,,Uncertain,Uncertain,Uncertain,36.8,,False,36.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,89.89,H,-0.2609,1.9891,-22.0359,loss_of_function,-4.08075543324045,0.4695355858278383,,,0.9752,pathogenic,-0.240433277,destabilizing,-0.009799823,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608C,NP_000240:p.Ala608Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97256,1.67109,0.6085844879216346,Neutral,Neutral,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.1947,1.575,-22.0426,loss_of_function,-2.46196631817663,0.6693766721737041,,,0.9105,pathogenic,0.239174652,stabilizing,-0.027770491,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608D,NP_000240:p.Ala608Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.75171,4.89014,2.578889744108304,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89897,Uncertain significance,3,91.8,H,-0.2086,1.575,-8.7547,loss_of_function,-3.61628182239474,0.5268753035876369,,,0.9954,pathogenic,-0.788937613,destabilizing,-1.007841547,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608E,NP_000240:p.Ala608Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.06794,4.92857,2.9545043072263955,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.262,1.575,-22.0426,loss_of_function,-4.37265366034218,0.433500466575049,,,0.982,pathogenic,-0.833868762,destabilizing,-1.026040715,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608F,NP_000240:p.Ala608Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.97385,4.97075,1.5891953242929775,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.2448,1.575,-22.0426,loss_of_function,-5.49382824059507,0.2950903771964368,,,0.9919,pathogenic,-0.788376996,destabilizing,-0.987110993,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608G,NP_000240:p.Ala608Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05567,2.15068,2.2142153853725888,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.8,H,-0.1085,1.575,-6.4329,loss_of_function,-3.54408433845602,0.5357881530054458,,,0.3415,ambiguous,-4.14e-05,neutral,-0.141015295,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608H,NP_000240:p.Ala608His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),20.29432,6.0534,2.2624646361699874,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.2489,1.575,-22.0426,loss_of_function,-5.49382824059507,0.2950903771964368,,,0.9942,pathogenic,-0.719561821,destabilizing,-1.063126796,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608I,NP_000240:p.Ala608Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.00707,3.48844,0.5480482981753593,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.1461,1.575,-4.7549,loss_of_function,-2.93052935172117,0.611532111215334,,,0.96,pathogenic,0.056638016,neutral,-0.361135088,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608K,NP_000240:p.Ala608Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.46302,4.29796,4.337699253864603,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.1938,1.575,-7.7548,loss_of_function,-3.07137436121559,0.5941446581852653,,,0.9948,pathogenic,-0.663392365,destabilizing,-1.067722867,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608L,NP_000240:p.Ala608Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.36498,3.07347,0.8339771039130145,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.1594,1.575,-6.4329,loss_of_function,-2.89930194195504,0.6153871652389613,,,0.9154,pathogenic,-0.357805486,destabilizing,-0.942060029,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608M,NP_000240:p.Ala608Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.48287,2.33401,1.311919532449622,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.13,1.575,-8.7547,loss_of_function,-3.01387860629462,0.6012425648963746,,,0.9385,pathogenic,-0.547210854,destabilizing,-0.976094447,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608N,NP_000240:p.Ala608Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28727,3.42245,1.420174050003616,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.2468,1.575,-22.0426,loss_of_function,-4.82331546151521,0.37786583011565295,,,0.9899,pathogenic,-0.724408369,destabilizing,-0.989721199,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608P,NP_000240:p.Ala608Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.8295,10.2483,6.019789208326258,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1331931,Uncertain significance,2,91.8,H,-0.2432,1.575,-7.7548,loss_of_function,-5.49382824059507,0.2950903771964368,,,0.9904,pathogenic,-0.648423927,destabilizing,-1.032390659,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608Q,NP_000240:p.Ala608Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.24117,3.72245,2.155887594890512,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.2442,1.575,-22.0426,loss_of_function,-4.37787991509796,0.432855280356414,,,0.9742,pathogenic,-0.638147611,destabilizing,-0.963094623,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608R,NP_000240:p.Ala608Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.30594,2.73503,3.049277947363278,Uncertain,Destabilizing,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.2096,1.575,-8.7547,loss_of_function,-3.14836019630354,0.5846406821737802,,,0.9812,pathogenic,-0.797367215,destabilizing,-1.006932885,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608S,NP_000240:p.Ala608Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4588,2.2466,1.2558792152222669,Uncertain,Neutral,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.8,H,-0.0746,1.575,-5.433,loss_of_function,-1.13332141550115,0.8333991740843976,,,0.2586,benign,0.062368914,neutral,0.075594056,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608T,NP_000240:p.Ala608Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.84961,2.83129,0.8633637711866915,Uncertain,Neutral,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.0806,1.575,-5.433,loss_of_function,-2.17915434142915,0.7042900850073517,,,0.7257,pathogenic,-0.161487753,destabilizing,-0.320422222,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608V,NP_000240:p.Ala608Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83256,1.94524,-0.0382041434614055,Uncertain,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,233120,Uncertain significance,2,91.8,H,-0.0618,1.575,-2.3286,loss_of_function,-1.55457975272207,0.7813944237688121,,,0.7705,pathogenic,0.211417157,stabilizing,-0.059017296,neutral,https://doi.org/10.1101/2022.10.22.513328 +A608W,NP_000240:p.Ala608Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.14978,6.24048,3.1140518068504632,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.1879,1.575,-8.7547,loss_of_function,-5.49382824059507,0.2950903771964368,,,0.9979,pathogenic,-0.724873376,destabilizing,-1.068862711,damaging,https://doi.org/10.1101/2022.10.22.513328 +A608Y,NP_000240:p.Ala608Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),19.90176,6.0534,2.445318343178744,Destabilizing,Uncertain,False,0.028,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.8,H,-0.264,1.575,-22.0426,loss_of_function,-5.49382824059507,0.2950903771964368,,,0.9937,pathogenic,-0.684225184,destabilizing,-0.941497009,damaging,https://doi.org/10.1101/2022.10.22.513328 +E609A,NP_000240:p.Glu609Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44045,-0.10748,0.299651398825419,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1058566,Uncertain significance,1,93.08,H,-0.0026,2.5651,-6.1699,loss_of_function,-2.02425051610622,0.723413112487336,,,0.1184,benign,0.078901294,neutral,0.036656597,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609C,NP_000240:p.Glu609Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05778,0.37857,1.0334444488070833,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0852,2.5651,-8.7547,loss_of_function,-3.44176246289904,0.5484198877866913,,,0.7463,pathogenic,0.229734288,stabilizing,-0.043312261,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609D,NP_000240:p.Glu609Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55356,0.42279,0.481781798394521,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,0.0486,2.5651,-2.848,gain_of_function,-0.39310262398248,0.9247799018482381,,,0.1482,benign,0.019086666,neutral,-0.021727798,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609F,NP_000240:p.Glu609Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48313,-0.60816,-0.5370735486039457,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.1306,2.5651,-22.0426,loss_of_function,-4.26928776752681,0.4462610862994529,,,0.7202,pathogenic,0.713551966,stabilizing,-0.000331548,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609G,NP_000240:p.Glu609Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2114,0.82041,1.1005015336679913,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0335,2.5651,-7.1699,loss_of_function,-3.34162845971017,0.5607815276020389,,,0.1095,benign,-0.057739649,neutral,-0.034504896,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609H,NP_000240:p.Glu609His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59856,-0.26224,-0.272705077301989,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.1219,2.5651,-22.0426,loss_of_function,-4.26928776752681,0.4462610862994529,,,0.3721,ambiguous,-0.083784951,destabilizing,-0.108025186,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609I,NP_000240:p.Glu609Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05359,-0.28707,-0.3603521494577216,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.0681,2.5651,-8.7547,loss_of_function,-3.65759338810184,0.5217753507323015,,,0.3559,ambiguous,0.320418858,stabilizing,-0.001163534,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609K,NP_000240:p.Glu609Lys,"hg19,3:g.37089103G>A",,,0.551,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00014,-0.19354,0.0972902468340114,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,420847,Uncertain significance,2,93.08,H,-0.0158,2.5651,-4.433,loss_of_function,-1.64922228649944,0.7697107111785841,,,0.1066,benign,-0.295960073,destabilizing,-0.075741892,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609L,NP_000240:p.Glu609Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21241,-0.5466,-0.5932550519883006,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.0584,2.5651,-6.4329,loss_of_function,-2.66428860642973,0.6443997894530127,,,0.3199,benign,0.455750561,stabilizing,-0.097243659,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609M,NP_000240:p.Glu609Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35979,0.08095,-0.1161034780518743,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.0191,2.5651,-8.7547,loss_of_function,-2.24690679891463,0.6959259784165025,,,0.4017,ambiguous,0.268749421,stabilizing,0.066678827,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609N,NP_000240:p.Glu609Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91792,-0.0432,0.2780514471229234,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0196,2.5651,-4.3626,loss_of_function,-0.916943532693982,0.8601112335855502,,,0.2173,benign,-0.147129734,destabilizing,0.03336401,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609P,NP_000240:p.Glu609Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9181,5.03639,5.841164018809821,Destabilizing,Destabilizing,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.1647,2.5651,-7.1699,loss_of_function,-4.26928776752681,0.4462610862994529,,,0.8742,pathogenic,-0.162688606,destabilizing,-0.470812696,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609Q,NP_000240:p.Glu609Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19222,0.01327,0.2511020161298127,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,0.0439,2.5651,-2.433,gain_of_function,-0.446035536672385,0.9182452824361323,,,0.1036,benign,-0.070967648,neutral,-0.081458619,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609R,NP_000240:p.Glu609Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29252,0.03537,-0.2498554598421404,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.0821,2.5651,-5.585,loss_of_function,-1.24565583522174,0.8195313810148167,,,0.1857,benign,-0.245217189,destabilizing,-0.088012846,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609S,NP_000240:p.Glu609Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47915,0.15034,0.7284759207212693,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0131,2.5651,-5.585,loss_of_function,-2.05998856084568,0.719001216201309,,,0.1583,benign,-0.101707145,destabilizing,-0.157461118,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609T,NP_000240:p.Glu609Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73847,-0.0915,0.2980580916524872,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.08,H,-0.0257,2.5651,-4.9475,loss_of_function,-1.60724457595527,0.7748929002601611,,,0.1812,benign,-0.18238401,destabilizing,0.07423765,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609V,NP_000240:p.Glu609Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61521,-0.33163,-0.1711783039308623,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.08,H,-0.021,2.5651,-7.1699,loss_of_function,-2.23135547155102,0.6978458048630384,,,0.1991,benign,0.134163038,stabilizing,0.007364526,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609W,NP_000240:p.Glu609Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58026,-1.11837,-1.0937379312954043,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.1407,2.5651,-22.0426,loss_of_function,-4.26928776752681,0.4462610862994529,,,0.8639,pathogenic,0.686287692,stabilizing,-0.227334589,neutral,https://doi.org/10.1101/2022.10.22.513328 +E609Y,NP_000240:p.Glu609Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39634,-0.79048,-0.4250342907977122,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,78.9,,False,78.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.08,H,-0.0636,2.5651,-8.7547,loss_of_function,-4.26928776752681,0.4462610862994529,,,0.5665,pathogenic,0.585366939,stabilizing,-0.223993901,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610A,NP_000240:p.Tyr610Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13592,2.37653,0.6581617963784561,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.0915,2.9304,-4.433,loss_of_function,-2.62397721357575,0.6493762699995457,,,0.9211,pathogenic,-0.153754951,destabilizing,0.071505432,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610C,NP_000240:p.Tyr610Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.80928,3.06735,1.3826909121653643,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,1780897,Uncertain significance,1,92.24,H,-0.0762,2.9304,-7.1699,loss_of_function,-3.465826923199,0.5454491068221299,,,0.6695,pathogenic,0.133736483,stabilizing,0.023543247,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610D,NP_000240:p.Tyr610Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66033,2.95238,1.01221932930657,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1146,2.9304,-6.1699,loss_of_function,-2.36693493999715,0.6811083879825193,,,0.8029,pathogenic,-0.402252763,destabilizing,0.024860152,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610E,NP_000240:p.Tyr610Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22998,2.53163,0.6483622798453206,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1338,2.9304,-4.2955,loss_of_function,-2.01378602711041,0.7247049638035554,,,0.9328,pathogenic,-0.38837567,destabilizing,-0.096696133,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610F,NP_000240:p.Tyr610Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09819,0.29864,-0.0759533353869257,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,-,-,uncertain,neutral,,,,92.24,H,0.0642,2.9304,-5.7549,gain_of_function,-0.618037846943465,0.8970114304051863,,,0.2219,benign,0.245650669,stabilizing,-0.095210786,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610G,NP_000240:p.Tyr610Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.04666,3.53197,1.4562242496570046,Uncertain,Uncertain,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1842,2.9304,-8.7547,loss_of_function,-3.51065827732293,0.5399146326728339,,,0.8284,pathogenic,-0.384257464,destabilizing,0.16495745,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610H,NP_000240:p.Tyr610His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37463,1.50816,0.3210683731158364,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.0081,2.9304,-6.1699,loss_of_function,-0.836545482488675,0.8700364508628388,,,0.7877,pathogenic,-0.400857232,destabilizing,-0.116704984,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610I,NP_000240:p.Tyr610Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.027,1.69966,0.156834751708812,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1074,2.9304,-5.1699,loss_of_function,-4.13421671989546,0.46293573813726135,,,0.891,pathogenic,0.064225124,neutral,-0.008288324,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610K,NP_000240:p.Tyr610Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49681,2.23435,0.5204961958899568,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1552,2.9304,-3.5454,loss_of_function,-2.06742418728584,0.71808328090533,,,0.9405,pathogenic,-0.432166838,destabilizing,0.073890083,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610L,NP_000240:p.Tyr610Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57845,1.83095,-0.1856356154739957,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.0839,2.9304,-5.0544,loss_of_function,-2.59669237357965,0.652744609961097,,,0.8602,pathogenic,0.160921734,stabilizing,-0.062496501,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610M,NP_000240:p.Tyr610Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40476,1.54932,0.2328905180475976,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.0395,2.9304,-5.7549,loss_of_function,-4.13421671989546,0.46293573813726135,,,0.8722,pathogenic,-0.120029642,destabilizing,0.135823604,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610N,NP_000240:p.Tyr610Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20888,2.60238,0.8918584797028741,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.0987,2.9304,-7.1699,loss_of_function,-1.9120238607688,0.737267601939292,,,0.6613,pathogenic,-0.473994722,destabilizing,-0.036849876,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610P,NP_000240:p.Tyr610Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43686,10.19456,7.696382078668789,Destabilizing,Destabilizing,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.2378,2.9304,-8.7547,loss_of_function,-4.78971517768833,0.382013817743571,,,0.9953,pathogenic,-0.423149478,destabilizing,-0.091415608,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610Q,NP_000240:p.Tyr610Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90711,2.3102,0.7514267632195367,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1096,2.9304,-4.507,loss_of_function,-1.97496406038294,0.7294975732501509,,,0.9517,pathogenic,-0.368097164,destabilizing,0.047982191,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610R,NP_000240:p.Tyr610Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66168,1.64898,0.241585680499955,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1495,2.9304,-3.3286,loss_of_function,-2.01228481102171,0.7248902903857606,,,0.9105,pathogenic,-0.432089768,destabilizing,0.043588938,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610S,NP_000240:p.Tyr610Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05161,2.74082,1.095948560830349,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,1780892,Uncertain significance,1,92.24,H,-0.103,2.9304,-5.7549,loss_of_function,-2.47143316524189,0.6682079807214409,,,0.8119,pathogenic,-0.248535578,destabilizing,0.211482474,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610T,NP_000240:p.Tyr610Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.86511,2.21156,0.8187369566640645,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1161,2.9304,-4.6674,loss_of_function,-2.37103334459373,0.6806024359599588,,,0.9024,pathogenic,-0.272881436,destabilizing,-0.075767995,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610V,NP_000240:p.Tyr610Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62297,2.01905,0.4314218171541056,Uncertain,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,DOWN,-,neutral,neutral,,,,92.24,H,-0.1071,2.9304,-7.1699,loss_of_function,-4.13421671989546,0.46293573813726135,,,0.7949,pathogenic,0.06345023,neutral,0.095548333,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y610W,NP_000240:p.Tyr610Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.9021,0.20408,-0.5147199511624267,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,74.4,,True,74.4,,uncertain,,,UP,-,mixed_effects,neutral,,,,92.24,H,-0.099,2.9304,-22.0426,loss_of_function,-3.06440368628685,0.595005194766195,,,0.827,pathogenic,-0.216843006,destabilizing,-0.157669754,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611A,NP_000240:p.Ile611Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.9036,2.89898,3.118238907708566,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.1973,1.5307,-4.9575,loss_of_function,-1.77740464026907,0.753886475279467,,,0.5697,pathogenic,0.561879846,stabilizing,-0.213451814,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611C,NP_000240:p.Ile611Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97771,2.36463,2.9582704153816564,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.1916,1.5307,-7.7648,loss_of_function,-2.47658513004912,0.6675719656690097,,,0.9096,pathogenic,0.133838172,stabilizing,-0.035149037,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611D,NP_000240:p.Ile611Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.22774,4.00816,4.19191150880577,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.4085,1.5307,-22.0526,loss_of_function,-4.56906795621857,0.4092529312435252,,,0.9925,pathogenic,-0.777050873,destabilizing,-1.001715343,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611E,NP_000240:p.Ile611Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.5801,4.33776,3.895559628672011,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.3894,1.5307,-22.0526,loss_of_function,-3.78594759722243,0.505929899123423,,,0.98,pathogenic,-0.713919286,destabilizing,-1.074606382,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611F,NP_000240:p.Ile611Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.32208,5.6551,1.2088877449103983,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.19,H,-0.1726,1.5307,-7.7648,loss_of_function,-3.2307779129462,0.5744661351158914,,,0.7382,pathogenic,-0.220792213,destabilizing,0.042182158,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611G,NP_000240:p.Ile611Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.5805,5.4432,5.080560591649871,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.3752,1.5307,-22.0526,loss_of_function,-3.22825432233359,0.5747776748246918,,,0.9546,pathogenic,-0.094985601,destabilizing,-0.812995805,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611H,NP_000240:p.Ile611His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65552,5.32245,2.6456142609748423,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.3751,1.5307,-22.0526,loss_of_function,-4.42414257710157,0.4271441098611216,,,0.9805,pathogenic,-0.484037695,destabilizing,0.000668985,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611K,NP_000240:p.Ile611Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.72607,7.10578,4.445578451208695,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.19,H,-0.382,1.5307,-22.0526,loss_of_function,-5.09228427709656,0.3446613689546828,,,0.9742,pathogenic,-0.6740786,destabilizing,-0.936313187,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611L,NP_000240:p.Ile611Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12184,2.16327,0.9581810077186176,Uncertain,Neutral,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,-,-,uncertain,neutral,1023802,Uncertain significance,1,92.19,H,-0.0849,1.5307,-5.4429,loss_of_function,-1.83170021530599,0.7471836338789528,,,0.3147,benign,1.834677974,stabilizing,-0.129122531,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611M,NP_000240:p.Ile611Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16093,2.68878,1.5728694713033753,Uncertain,Neutral,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.19,H,-0.0859,1.5307,-4.5169,loss_of_function,-1.12761865505501,0.8341031853926785,,,0.1808,benign,0.008619574,neutral,-0.2239475,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611N,NP_000240:p.Ile611Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.15571,3.07891,2.8790630352537265,Destabilizing,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.2406,1.5307,-6.1799,loss_of_function,-3.96527267170383,0.48379204474823867,,,0.9204,pathogenic,-0.240482416,destabilizing,-0.659107717,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611P,NP_000240:p.Ile611Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.61919,12.39728,7.305374558788844,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.4286,1.5307,-22.0526,loss_of_function,-5.09228427709656,0.3446613689546828,,,0.9857,pathogenic,-0.913364734,destabilizing,-1.037805522,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611Q,NP_000240:p.Ile611Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30557,3.16837,3.0123781218652628,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.3492,1.5307,-22.0526,loss_of_function,-4.56906795621857,0.4092529312435252,,,0.9592,pathogenic,-0.574015541,destabilizing,-0.5598627,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611R,NP_000240:p.Ile611Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.18629,6.12347,3.4020800320910207,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.19,H,-0.4088,1.5307,-22.0526,loss_of_function,-5.09228427709656,0.3446613689546828,,,0.9526,pathogenic,-0.692630792,destabilizing,-0.925323391,damaging,https://doi.org/10.1101/2022.10.22.513328 +I611S,NP_000240:p.Ile611Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34319,4.12313,3.796738257976938,Destabilizing,Destabilizing,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.19,H,-0.3251,1.5307,-22.0526,loss_of_function,-4.12138066874478,0.4645203611017183,,,0.7054,pathogenic,-0.133805263,destabilizing,-0.176041705,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611T,NP_000240:p.Ile611Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92075,2.20884,2.746901206348596,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,820147,Uncertain significance,2,92.19,H,-0.169,1.5307,-7.7648,loss_of_function,-2.93667815675964,0.6107730352695037,,,0.442,ambiguous,0.159202155,stabilizing,-0.157530429,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611V,NP_000240:p.Ile611Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03374,0.46429,0.9398413162308936,Neutral,Neutral,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,838634,Uncertain significance,2,92.19,H,-0.029,1.5307,-2.2891,loss_of_function,-1.03930717082784,0.845005323775341,,,0.1273,benign,0.20081925,stabilizing,-0.021937844,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611W,NP_000240:p.Ile611Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.85931,5.4915,2.225629780815844,Destabilizing,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.19,H,-0.3344,1.5307,-22.0526,loss_of_function,-4.42414257710157,0.4271441098611216,,,0.9881,pathogenic,-0.382855371,destabilizing,-0.053552893,neutral,https://doi.org/10.1101/2022.10.22.513328 +I611Y,NP_000240:p.Ile611Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.93455,2.92075,2.0786521302344987,Uncertain,Uncertain,True,0.182,,,,,,,,,,4.2,,True,4.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.19,H,-0.3432,1.5307,-22.0526,loss_of_function,-3.93758800500187,0.48720974370442716,,,0.9675,pathogenic,-0.437796797,destabilizing,-0.126293639,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612A,NP_000240:p.Val612Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25561,1.06633,0.9875554053069756,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,860023,Uncertain significance,2,93.49,H,-0.0371,2.3756,-3.5554,loss_of_function,-1.1653950558988,0.8294396520685355,,,0.1802,benign,0.021894397,neutral,-0.036183326,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612C,NP_000240:p.Val612Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59504,1.74048,1.3396030640346452,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.49,H,-0.0762,2.3756,-5.7649,loss_of_function,-2.52412898048603,0.6617026312189799,,,0.7324,pathogenic,-0.022037882,neutral,-0.029920103,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612D,NP_000240:p.Val612Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93424,3.41667,1.702271259501315,Uncertain,Uncertain,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2773582,Uncertain significance,1,93.49,H,-0.2302,2.3756,-8.7647,loss_of_function,-4.05143120222234,0.47315569058909684,,,0.742,pathogenic,0.124861262,stabilizing,-0.180490995,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612E,NP_000240:p.Val612Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.76069,2.01429,1.0121341519372566,Uncertain,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.49,H,-0.1743,2.3756,-6.1799,loss_of_function,-2.77250204978842,0.6310407349123137,,,0.4096,ambiguous,0.15034894,stabilizing,-0.123836671,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612F,NP_000240:p.Val612Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97692,0.74354,0.0988705474862827,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.1327,2.3756,-7.1799,loss_of_function,-4.50238258684706,0.41748530477171786,,,0.3717,ambiguous,0.480144233,stabilizing,-0.335183497,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612G,NP_000240:p.Val612Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.606,2.55714,2.5699231357548884,Uncertain,Uncertain,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,3076112,Uncertain significance,1,93.49,H,-0.2572,2.3756,-22.0526,loss_of_function,-4.92366905480581,0.36547708168926263,,,0.2448,benign,-0.02776088,neutral,0.123518002,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612H,NP_000240:p.Val612His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.45009,1.27653,0.5366264418464408,Uncertain,Uncertain,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.2281,2.3756,-7.7648,loss_of_function,-4.50238258684706,0.41748530477171786,,,0.7778,pathogenic,-0.006503547,neutral,-0.169164868,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612I,NP_000240:p.Val612Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90605,1.25,-0.4286808360430988,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,127620,Uncertain significance,2,93.49,H,0.0208,2.3756,-4.858,gain_of_function,-1.89548199588749,0.7393097112031273,,,0.1161,benign,0.020143382,neutral,-0.375281259,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612K,NP_000240:p.Val612Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29303,1.15102,0.953942559251984,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.2052,2.3756,-4.5949,loss_of_function,-1.81139358511296,0.7496905070720302,,,0.4356,ambiguous,-0.302394143,destabilizing,-0.115760783,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612L,NP_000240:p.Val612Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35226,0.49694,-0.2903602399755506,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.0489,2.3756,-5.7649,loss_of_function,-1.02942985147976,0.8462246884290423,,,0.4355,ambiguous,-0.084020332,destabilizing,-0.105776536,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612M,NP_000240:p.Val612Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12767,0.72653,0.2319872809347389,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.0682,2.3756,-7.7648,loss_of_function,-2.6355804650974,0.6479438373450059,,,0.201,benign,-0.002764143,neutral,-0.069817467,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612N,NP_000240:p.Val612Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.2015,2.21054,1.0732894964562596,Uncertain,Uncertain,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.49,H,-0.2859,2.3756,-22.0526,loss_of_function,-3.62636071915842,0.5256310540064663,,,0.5652,pathogenic,-0.105115213,destabilizing,0.034897576,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612P,NP_000240:p.Val612Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.26907,7.86088,4.640867747919135,Destabilizing,Destabilizing,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.49,H,-0.3358,2.3756,-22.0526,loss_of_function,-4.92366905480581,0.36547708168926263,,,0.9708,pathogenic,-0.315430017,destabilizing,-0.75759851,damaging,https://doi.org/10.1101/2022.10.22.513328 +V612Q,NP_000240:p.Val612Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97215,0.80442,0.9290942762121012,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.49,H,-0.185,2.3756,-6.1799,loss_of_function,-2.57020617105985,0.656014357351587,,,0.404,ambiguous,0.065325317,neutral,-0.174166664,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612R,NP_000240:p.Val612Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86633,0.98061,0.5008750596069313,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.2394,2.3756,-7.1799,loss_of_function,-2.39970620026392,0.677062744117181,,,0.3982,ambiguous,-0.226912814,destabilizing,-0.105481502,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612S,NP_000240:p.Val612Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.86414,2.12891,1.5577886698425691,Uncertain,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.49,H,-0.1436,2.3756,-4.121,loss_of_function,-1.78935365135143,0.7524113582717996,,,0.2422,benign,-0.103929829,destabilizing,-0.108288271,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612T,NP_000240:p.Val612Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.7573,0.92517,0.9030669111348988,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.49,H,-0.0553,2.3756,-3.4073,loss_of_function,-1.65124813727149,0.7694606179358673,,,0.1505,benign,-0.031476739,neutral,0.084474512,neutral,https://doi.org/10.1101/2022.10.22.513328 +V612W,NP_000240:p.Val612Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77081,0.93503,-0.1739910360356289,Neutral,Neutral,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.2492,2.3756,-22.0526,loss_of_function,-4.50238258684706,0.41748530477171786,,,0.9274,pathogenic,0.096137733,neutral,-0.569650706,damaging,https://doi.org/10.1101/2022.10.22.513328 +V612Y,NP_000240:p.Val612Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.02352,0.88537,0.2858013071290971,Uncertain,Uncertain,True,0.231,,,,,,,,,,15.6,,True,15.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.49,H,-0.1673,2.3756,-5.4429,loss_of_function,-3.36879646770596,0.5574276106642433,,,0.8068,pathogenic,0.155673872,stabilizing,-0.456513314,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613A,NP_000240:p.Glu613Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23143,0.79932,0.0062444388710097,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.002,2.5049,-4.9575,loss_of_function,-1.18362484092387,0.8271891674258105,,,0.1213,benign,-0.113802598,destabilizing,0.021474403,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613C,NP_000240:p.Glu613Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46867,1.43401,0.7642458364707763,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.1586,2.5049,-22.0526,loss_of_function,-3.10706604489175,0.5897384852174691,,,0.7278,pathogenic,-0.063346127,neutral,-0.079611802,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613D,NP_000240:p.Glu613Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.76275,0.56395,0.1481014572721439,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"1781098, 231039","Uncertain significance, Uncertain significance","1, 2",93.16,H,0.0474,2.5049,-2.01,gain_of_function,-0.326960968746069,0.9329451533390952,,,0.0892,benign,0.003764335,neutral,-0.060146077,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613F,NP_000240:p.Glu613Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44081,1.29762,-0.3249651809228887,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.1362,2.5049,-22.0526,loss_of_function,-4.00485610794678,0.478905431151395,,,0.6768,pathogenic,0.410755589,stabilizing,-0.17320068,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613G,NP_000240:p.Glu613Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90984,1.81701,0.8166741858639073,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2676581,Uncertain significance,1,93.16,H,-0.0472,2.5049,-8.7647,loss_of_function,-2.73278182736067,0.6359442348963422,,,0.122,benign,-0.161513782,destabilizing,-0.085052469,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613H,NP_000240:p.Glu613His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22714,0.8398,-0.2453788744883628,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.0597,2.5049,-8.7647,loss_of_function,-3.11302589006189,0.5890027365506597,,,0.3666,ambiguous,0.039874228,neutral,0.05683389,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613I,NP_000240:p.Glu613Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54735,0.33129,-0.42227196195601,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.1415,2.5049,-22.0526,loss_of_function,-3.80268572086606,0.5038635615250245,,,0.3703,ambiguous,0.241938426,stabilizing,-0.021559782,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613K,NP_000240:p.Glu613Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21916,-0.03946,-0.1397353121420447,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.021,2.5049,-4.3726,loss_of_function,-2.04614866783185,0.7207097644174151,,,0.1797,benign,-0.284217764,destabilizing,-0.180274362,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613L,NP_000240:p.Glu613Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55789,0.52687,-0.6846097542376456,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.1437,2.5049,-22.0526,loss_of_function,-3.80268572086606,0.5038635615250245,,,0.3474,ambiguous,0.161568812,stabilizing,-0.047725648,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613M,NP_000240:p.Glu613Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84338,0.91122,-0.2922328410107289,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.0925,2.5049,-22.0526,loss_of_function,-3.80268572086606,0.5038635615250245,,,0.4132,ambiguous,0.121595225,stabilizing,0.008038468,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613N,NP_000240:p.Glu613Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08077,0.7017,0.0112326504979415,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.0231,2.5049,-3.9575,loss_of_function,-0.613627240313693,0.8975559240715544,,,0.1774,benign,-0.179473164,destabilizing,-0.078499254,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613P,NP_000240:p.Glu613Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.1147,7.50782,5.139565476936211,Uncertain,Uncertain,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.2462,2.5049,-22.0526,loss_of_function,-4.15779210186552,0.4600253343668914,,,0.8882,pathogenic,-0.330636099,destabilizing,-0.831448137,damaging,https://doi.org/10.1101/2022.10.22.513328 +E613Q,NP_000240:p.Glu613Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11544,0.37925,0.064927911767359,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,0.0301,2.5049,-4.0644,gain_of_function,-0.379881756208457,0.9264120307980869,,,0.139,benign,-0.111483316,destabilizing,-0.121025282,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613R,NP_000240:p.Glu613Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02935,0.71871,-0.4251064620641803,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.0877,2.5049,-5.5949,loss_of_function,-2.37461415740728,0.6801603811450346,,,0.2804,benign,-0.180212163,destabilizing,-0.015533424,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613S,NP_000240:p.Glu613Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48901,1.14796,0.3082669054270082,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.0124,2.5049,-4.3726,loss_of_function,-1.6948805566074,0.7640741534490199,,,0.1497,benign,-0.142346463,destabilizing,-0.093977245,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613T,NP_000240:p.Glu613Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32233,0.71633,0.0529293734189834,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.16,H,-0.0277,2.5049,-4.2413,loss_of_function,-1.32009477361498,0.8103418218705722,,,0.1574,benign,-0.133979152,destabilizing,-0.03454619,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613V,NP_000240:p.Glu613Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23506,0.40136,-0.2849244507966181,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.16,H,-0.1024,2.5049,-22.0526,loss_of_function,-2.79566928496909,0.6281807172589625,,,0.2078,benign,0.039912615,neutral,-0.094292726,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613W,NP_000240:p.Glu613Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05702,0.63844,-0.8127251885257625,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.0785,2.5049,-8.7647,loss_of_function,-4.00485610794678,0.478905431151395,,,0.8609,pathogenic,0.50871364,stabilizing,-0.134090822,neutral,https://doi.org/10.1101/2022.10.22.513328 +E613Y,NP_000240:p.Glu613Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36479,0.99728,-0.262215901185821,Neutral,Neutral,True,0.235,,,,,,,Uncertain,Uncertain,Uncertain,78.6,,True,78.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.16,H,-0.137,2.5049,-22.0526,loss_of_function,-4.00485610794678,0.478905431151395,,,0.5026,ambiguous,0.564174546,stabilizing,-0.136938958,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614A,NP_000240:p.Phe614Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66543,1.6017,2.6566664416974177,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.147,2.4828,-7.7615,loss_of_function,-2.94606860915468,0.6096137748133758,,,0.9392,pathogenic,-0.356800057,destabilizing,0.033516861,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614C,NP_000240:p.Phe614Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26973,1.95714,3.433207268684469,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.188,2.4828,-22.0493,loss_of_function,-3.07009528118939,0.5943025618551012,,,0.7408,pathogenic,-0.278294833,destabilizing,-0.039489069,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614D,NP_000240:p.Phe614Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42163,3.42619,3.506128940926496,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.3428,2.4828,-22.0493,loss_of_function,-4.2562409641916,0.4478717268255022,,,0.959,pathogenic,-0.334340282,destabilizing,-0.261625904,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614E,NP_000240:p.Phe614Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28931,2.28946,2.9130191093798605,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.2444,2.4828,-8.7614,loss_of_function,-4.2562409641916,0.4478717268255022,,,0.9471,pathogenic,-0.247459182,destabilizing,-0.200775975,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614G,NP_000240:p.Phe614Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97996,3.36939,4.087133946188802,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.2552,2.4828,-22.0493,loss_of_function,-4.99652215302962,0.35648329605206786,,,0.9617,pathogenic,-0.319890309,destabilizing,-0.077373438,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614H,NP_000240:p.Phe614His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4855,1.44694,2.006271970921059,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.1745,2.4828,-7.7615,loss_of_function,-3.20157999780321,0.5780706460598507,,,0.8702,pathogenic,-0.256637218,destabilizing,0.089414651,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614I,NP_000240:p.Phe614Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43938,1.64354,2.024548210865668,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.072,2.4828,-4.0611,loss_of_function,-1.9068955401987,0.7379006980877165,,,0.5402,ambiguous,-0.242693015,destabilizing,0.086129809,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614K,NP_000240:p.Phe614Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03137,1.7881,2.973897100773537,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.2319,2.4828,-4.9542,loss_of_function,-2.90551804620536,0.6146197811401535,,,0.9177,pathogenic,-0.272076524,destabilizing,-0.123771938,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614L,NP_000240:p.Phe614Leu,"hg19,3:g.37089120T>G",,7.9547533629e-06,0.627,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25939,0.34388,1.5574884440133707,Neutral,Neutral,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"1498917, 1463033","Uncertain significance, Uncertain significance","1, 2",93.4,H,-0.0262,2.4828,-2.5136,loss_of_function,-1.42323126061766,0.7976095225162494,,,0.941,pathogenic,-0.093446254,destabilizing,-0.004192133,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614M,NP_000240:p.Phe614Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29767,1.51803,1.910938159804867,Neutral,Neutral,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.0729,2.4828,-5.5916,loss_of_function,-2.69339819165846,0.6408061829226416,,,0.7684,pathogenic,-0.034302357,neutral,0.05642195,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614N,NP_000240:p.Phe614Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14986,2.32347,2.902820869464385,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.2725,2.4828,-22.0493,loss_of_function,-3.17096278888805,0.5818503701965816,,,0.8665,pathogenic,-0.305487652,destabilizing,-0.231272065,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614P,NP_000240:p.Phe614Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.7658,11.03333,9.31012443480822,Destabilizing,Destabilizing,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.3432,2.4828,-22.0493,loss_of_function,-4.99652215302962,0.35648329605206786,,,0.9995,pathogenic,-0.451259505,destabilizing,-0.793536072,damaging,https://doi.org/10.1101/2022.10.22.513328 +F614Q,NP_000240:p.Phe614Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22559,2.18912,2.6633682854252694,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.1786,2.4828,-3.238,loss_of_function,-3.09786748548382,0.5908740562982181,,,0.9121,pathogenic,-0.305519469,destabilizing,-0.171314184,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614R,NP_000240:p.Phe614Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33347,2.15204,2.4164806999514137,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.2395,2.4828,-6.1766,loss_of_function,-2.77511638170341,0.6307179931017229,,,0.8927,pathogenic,-0.382198974,destabilizing,-0.189105549,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614S,NP_000240:p.Phe614Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25698,2.74592,3.5040009463460584,Uncertain,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1781175,Uncertain significance,1,93.4,H,-0.1209,2.4828,-6.7615,loss_of_function,-2.80667992075173,0.6268214435921917,,,0.907,pathogenic,-0.25026216,destabilizing,-0.232560299,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614T,NP_000240:p.Phe614Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49292,1.44082,2.8291101547051416,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.1512,2.4828,-3.6323,loss_of_function,-2.42054098907168,0.6744906692308451,,,0.864,pathogenic,-0.317128885,destabilizing,-0.061310114,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614V,NP_000240:p.Phe614Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.45097,1.21361,2.169722600742761,Neutral,Uncertain,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.4,H,-0.0727,2.4828,-5.3021,loss_of_function,-1.93128358536907,0.7348899702570525,,,0.6023,pathogenic,-0.274083937,destabilizing,-0.106599207,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614W,NP_000240:p.Phe614Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05783,0.58231,0.5356465653807607,Neutral,Neutral,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.4,H,-0.1434,2.4828,-22.0493,loss_of_function,-3.20157999780321,0.5780706460598507,,,0.8386,pathogenic,-0.144050871,destabilizing,-0.092896857,neutral,https://doi.org/10.1101/2022.10.22.513328 +F614Y,NP_000240:p.Phe614Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6567,0.63946,0.8588600584170655,Neutral,Neutral,True,0.347,,,,,,,Uncertain,Uncertain,Uncertain,24.9,,False,24.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.4,H,-0.1117,2.4828,-22.0493,loss_of_function,-2.48224848936995,0.6668728184678642,,,0.324,benign,0.006965096,neutral,-0.10984962,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615A,NP_000240:p.Leu615Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.87748,3.83469,3.84046617025616,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.3656,0.575,-22.0426,loss_of_function,-4.80167501040401,0.3805373647947741,,,0.9332,pathogenic,-0.422737908,destabilizing,-1.013445238,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615C,NP_000240:p.Leu615Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.75539,3.62721,3.939146570236996,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.287,0.575,-8.7547,loss_of_function,-5.32019024190637,0.3165261565490203,,,0.8584,pathogenic,-0.027250897,neutral,-0.640053988,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615D,NP_000240:p.Leu615Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.64228,5.22109,5.177857451591952,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.4871,0.575,-22.0426,loss_of_function,-5.44077556505774,0.30163978144821724,,,0.9991,pathogenic,-0.801828385,destabilizing,-1.015515378,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615E,NP_000240:p.Leu615Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.06698,4.8619,4.637996660466947,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.4552,0.575,-22.0426,loss_of_function,-5.44077556505774,0.30163978144821724,,,0.9892,pathogenic,-0.76090764,destabilizing,-1.036451568,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615F,NP_000240:p.Leu615Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89362,3.65068,2.4045501332528283,Uncertain,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.2,H,-0.2194,0.575,-6.4329,loss_of_function,-3.1686667247128,0.582133821546008,,,0.4659,ambiguous,0.589946821,stabilizing,0.046671144,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615G,NP_000240:p.Leu615Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.45848,6.01327,5.958583281798889,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.4404,0.575,-22.0426,loss_of_function,-5.64691753655627,0.2761913551261013,,,0.9852,pathogenic,-0.46667409,destabilizing,-1.008198171,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615H,NP_000240:p.Leu615His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90535,5.51361,3.574729654026234,Uncertain,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.408,0.575,-22.0426,loss_of_function,-4.96212872989984,0.36072919749620824,,,0.9586,pathogenic,0.071863429,neutral,-0.913465641,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615I,NP_000240:p.Leu615Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34366,1.61735,2.2505703444164498,Neutral,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.2,H,-0.1498,0.575,-4.433,loss_of_function,-2.06852395562434,0.7179475134372582,,,0.2493,benign,0.161068307,stabilizing,-0.115081331,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615K,NP_000240:p.Leu615Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.5771,5.8119,5.943734218598733,Uncertain,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.2,H,-0.4542,0.575,-22.0426,loss_of_function,-5.64691753655627,0.2761913551261013,,,0.9875,pathogenic,-0.752311074,destabilizing,-0.998707406,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615M,NP_000240:p.Leu615Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14325,1.08265,2.206811219246704,Neutral,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.2,H,-0.1952,0.575,-8.7547,loss_of_function,-3.56610446197257,0.5330697473996335,,,0.2979,benign,0.217478255,stabilizing,-0.008286841,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615N,NP_000240:p.Leu615Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.18676,3.52585,3.620213855990025,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.4334,0.575,-22.0426,loss_of_function,-4.77293594286686,0.3840852305567482,,,0.9908,pathogenic,-0.75861181,destabilizing,-0.956753569,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615P,NP_000240:p.Leu615Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.12024,12.19422,10.730654046457596,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,860126,Likely pathogenic,1,93.2,H,-0.449,0.575,-22.0426,loss_of_function,-5.64691753655627,0.2761913551261013,,,0.9955,pathogenic,-0.768437383,destabilizing,-1.022245102,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615Q,NP_000240:p.Leu615Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.54622,3.42687,3.4496407490029712,Uncertain,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.3864,0.575,-22.0426,loss_of_function,-5.44077556505774,0.30163978144821724,,,0.9352,pathogenic,-0.828799685,destabilizing,-0.907311206,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615R,NP_000240:p.Leu615Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.80241,4.67857,4.67620767913941,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.2,H,-0.4458,0.575,-22.0426,loss_of_function,-5.64691753655627,0.2761913551261013,,,0.9691,pathogenic,-0.774507385,destabilizing,-1.012144736,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615S,NP_000240:p.Leu615Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.4759,4.73333,4.994497754505731,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.396,0.575,-22.0426,loss_of_function,-5.32019024190637,0.3165261565490203,,,0.9676,pathogenic,-0.546840434,destabilizing,-0.901158341,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615T,NP_000240:p.Leu615Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89634,4.00272,3.986121619150736,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.3687,0.575,-22.0426,loss_of_function,-5.32019024190637,0.3165261565490203,,,0.9157,pathogenic,-0.091383396,destabilizing,-0.720043963,damaging,https://doi.org/10.1101/2022.10.22.513328 +L615V,NP_000240:p.Leu615Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.7193,2.86361,2.5298685192431813,Uncertain,Uncertain,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.2,H,-0.192,0.575,-5.585,loss_of_function,-3.56610446197257,0.5330697473996335,,,0.3183,benign,0.237668056,stabilizing,-0.204140237,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615W,NP_000240:p.Leu615Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.4992,4.66701,4.111964330518823,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.2,H,-0.3304,0.575,-8.7547,loss_of_function,-4.96212872989984,0.36072919749620824,,,0.8466,pathogenic,-0.244933627,destabilizing,-0.467340207,neutral,https://doi.org/10.1101/2022.10.22.513328 +L615Y,NP_000240:p.Leu615Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30745,5.82959,3.758688960466448,Destabilizing,Destabilizing,True,0.331,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.2,H,-0.3911,0.575,-22.0426,loss_of_function,-4.96212872989984,0.36072919749620824,,,0.9447,pathogenic,0.262805056,stabilizing,-0.283217603,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616A,NP_000240:p.Lys616Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97409,1.75612,0.5871097657118873,Neutral,Neutral,False,0.159,,-0.00491,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0289,2.9598,-6.7549,gain_of_function,-1.93873330636389,0.7339702949746302,,,0.3163,benign,0.346181633,stabilizing,0.029222117,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616C,NP_000240:p.Lys616Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16851,1.68469,1.3901949527316004,Neutral,Neutral,False,0.159,,-0.00606,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.0515,2.9598,-8.7547,loss_of_function,-3.07142923042149,0.5941378845285783,,,0.4386,ambiguous,0.30430573,stabilizing,-0.018277468,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616D,NP_000240:p.Lys616Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.76456,3.37007,1.410889297409232,Uncertain,Uncertain,False,0.159,,-0.01238,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.0903,2.9598,-8.7547,loss_of_function,-3.10433115152382,0.59007611045636,,,0.7087,pathogenic,0.393299537,stabilizing,-0.0332171,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616E,NP_000240:p.Lys616Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92493,3.15544,0.8216334789435281,Uncertain,Neutral,False,0.159,,-0.00881,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.0062,2.9598,-8.7547,loss_of_function,-2.23739302632927,0.6971004628697358,,,0.1507,benign,0.340393453,stabilizing,0.004077387,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616F,NP_000240:p.Lys616Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00683,1.05102,0.1077683207237073,Neutral,Neutral,False,0.159,,-0.00462,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.0393,2.9598,-6.1699,loss_of_function,-1.92339573405375,0.7358637331524905,,,0.7338,pathogenic,0.471926164,stabilizing,0.024383922,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616G,NP_000240:p.Lys616Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.07331,3.09864,1.625224652947167,Uncertain,Uncertain,False,0.159,,-0.00659,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.0324,2.9598,-7.1699,loss_of_function,-1.97589566219956,0.7293825661023124,,,0.2972,benign,0.360039202,stabilizing,-0.117599795,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616H,NP_000240:p.Lys616His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66055,1.85102,0.386268354020719,Neutral,Neutral,False,0.159,,0.00928,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0188,2.9598,-6.7549,gain_of_function,-2.2831837338162,0.6914475556172842,,,0.3199,benign,0.316407992,stabilizing,-0.15932444,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616I,NP_000240:p.Lys616Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19848,0.49728,-0.0603248157579749,Neutral,Neutral,False,0.159,,-0.00647,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.36,H,0.0117,2.9598,-2.6051,gain_of_function,-1.56751311811548,0.7797977872667033,,,0.3266,benign,0.227142204,stabilizing,-0.116069639,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616L,NP_000240:p.Lys616Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.08844,0.44932,-0.4783933595469603,Neutral,Neutral,False,0.159,,-0.00603,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.36,H,0.0044,2.9598,-4.2955,gain_of_function,-1.52808809359542,0.78466484478271,,,0.2319,benign,0.282211469,stabilizing,-0.091037253,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616M,NP_000240:p.Lys616Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29293,0.83844,-0.03520264450038,Neutral,Neutral,False,0.159,,-0.00562,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0339,2.9598,-3.8007,gain_of_function,-1.3052917838208,0.8121692653183367,,,0.1621,benign,0.252250839,stabilizing,-0.0567839,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616N,NP_000240:p.Lys616Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03241,1.99694,0.7379245574242995,Neutral,Neutral,False,0.159,,-0.00725,,,-0.11643,,Uncertain,Uncertain,Neutral,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,658130,Uncertain significance,1,93.36,H,0.0085,2.9598,-7.1699,gain_of_function,-1.24365633927354,0.8197782207289672,,,0.4158,ambiguous,0.276779905,stabilizing,0.063048383,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616P,NP_000240:p.Lys616Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.42875,5.52959,7.601220018615429,Destabilizing,Destabilizing,False,0.159,,-0.00668,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,-0.2234,2.9598,-22.0426,loss_of_function,-3.97822805488451,0.4821926901289361,,,0.9281,pathogenic,-0.154588709,destabilizing,-0.606907027,damaging,https://doi.org/10.1101/2022.10.22.513328 +K616Q,NP_000240:p.Lys616Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72257,0.9432,0.659609857754051,Neutral,Neutral,False,0.159,,-0.00617,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0377,2.9598,-5.1699,gain_of_function,-0.921607551505202,0.8595354559395936,,,0.0919,benign,0.263302866,stabilizing,0.08829315,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616R,NP_000240:p.Lys616Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37088,0.87993,-0.09828262712535,Neutral,Neutral,False,0.159,,0.01308,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.36,H,0.1012,2.9598,-5.585,gain_of_function,-0.0734920165806236,0.9642361413277893,,,0.0806,benign,0.035061799,neutral,0.012863565,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616S,NP_000240:p.Lys616Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19997,2.44218,1.1661270634553884,Uncertain,Neutral,False,0.159,,-0.0068,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0289,2.9598,-4.7549,gain_of_function,-0.952518752058009,0.8557194382500476,,,0.333,benign,0.401146912,stabilizing,-0.029677619,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616T,NP_000240:p.Lys616Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.38007,1.85918,0.859582894918382,Neutral,Neutral,False,0.159,,-0.00769,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0194,2.9598,-4.2955,gain_of_function,-0.828375248493065,0.8710450741740465,,,0.143,benign,0.216976723,stabilizing,-0.042313305,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616V,NP_000240:p.Lys616Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60448,0.66871,0.2086073553327411,Neutral,Neutral,False,0.159,,-0.00771,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.36,H,0.0249,2.9598,-3.1699,gain_of_function,-1.50634076798629,0.7873495732222601,,,0.2816,benign,0.232561371,stabilizing,-0.065111551,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616W,NP_000240:p.Lys616Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67561,0.83741,-0.4116473187370933,Neutral,Neutral,False,0.159,,-0.00566,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.0471,2.9598,-5.9475,loss_of_function,-2.26891371524451,0.6932092032506944,,,0.6829,pathogenic,0.570587502,stabilizing,-0.1339457,neutral,https://doi.org/10.1101/2022.10.22.513328 +K616Y,NP_000240:p.Lys616Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96486,0.97211,0.2268548457469499,Neutral,Neutral,False,0.159,,-0.00373,,,,,Uncertain,Uncertain,Uncertain,24.8,,False,24.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.36,H,-0.0322,2.9598,-7.7548,loss_of_function,-2.83538229306815,0.6232781078908081,,,0.5976,pathogenic,0.527470202,stabilizing,-0.09435165,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617A,NP_000240:p.Lys617Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28206,-0.04354,0.2663004041359601,Neutral,Neutral,False,0.079,,-6e-05,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,0.0192,2.7342,-4.5883,gain_of_function,-1.78340668782859,0.7531455166867558,,,0.3354,benign,0.103052549,neutral,-0.010853648,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617C,NP_000240:p.Lys617Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50805,0.65374,0.939421203225132,Neutral,Neutral,False,0.079,,-0.00589,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.0672,2.7342,-7.7582,loss_of_function,-2.83346750440172,0.6235144904088651,,,0.6061,pathogenic,0.157063196,stabilizing,-0.075049869,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617D,NP_000240:p.Lys617Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84862,0.58469,0.5631011788636716,Neutral,Neutral,False,0.079,,0.43681,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.0849,2.7342,-3.6289,loss_of_function,-1.41169957487812,0.7990331203055748,,,0.4172,ambiguous,0.162197196,stabilizing,0.140495422,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617E,NP_000240:p.Lys617Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61468,0.20714,0.4026170938368495,Neutral,Neutral,False,0.079,,0.00148,,,-0.10173,,Uncertain,Uncertain,Neutral,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,663684,Uncertain significance,2,93.55,H,0.0044,2.7342,-2.6085,gain_of_function,-1.03018277882255,0.8461317388182978,,,0.1303,benign,0.212477685,stabilizing,-0.047416527,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617F,NP_000240:p.Lys617Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50903,0.52585,0.0556483127481705,Neutral,Neutral,False,0.079,,-0.006,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.55,H,-0.141,2.7342,-22.0459,loss_of_function,-3.52125208426322,0.5386068169309407,,,0.7899,pathogenic,0.215143118,stabilizing,0.005388521,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617G,NP_000240:p.Lys617Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39045,1.03061,0.9517491284007008,Neutral,Neutral,False,0.079,,-0.00589,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.0437,2.7342,-5.2988,loss_of_function,-1.59464345362625,0.7764485210337225,,,0.2543,benign,0.132532644,stabilizing,0.037880584,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617H,NP_000240:p.Lys617His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36229,0.26701,0.0950077848114616,Neutral,Neutral,False,0.079,,0.01165,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.08,2.7342,-22.0459,loss_of_function,-2.70913040470633,0.6388640259629397,,,0.2964,benign,0.058593741,neutral,-0.181203447,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617I,NP_000240:p.Lys617Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4086,-0.11837,0.1250146503611432,Neutral,Neutral,False,0.079,,0.0052,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.55,H,-0.1083,2.7342,-22.0459,loss_of_function,-3.16125177170592,0.5830492046865969,,,0.4499,ambiguous,0.209057973,stabilizing,0.13056389,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617L,NP_000240:p.Lys617Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44107,-0.10578,-0.362644010784301,Neutral,Neutral,False,0.079,,-0.00431,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.55,H,-0.107,2.7342,-22.0459,loss_of_function,-2.79767491724939,0.6279331200086624,,,0.3249,benign,0.172048866,stabilizing,-0.020389409,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617M,NP_000240:p.Lys617Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30939,0.04456,-0.0166216319045053,Neutral,Neutral,False,0.079,,-0.00314,,,0.1576,,Uncertain,Uncertain,Neutral,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1432030,Uncertain significance,1,93.55,H,-0.0071,2.7342,-7.7582,loss_of_function,-1.69241298145834,0.7643787779945146,,,0.2234,benign,0.194422501,stabilizing,0.018993662,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617N,NP_000240:p.Lys617Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22062,0.03571,0.2876384441617402,Neutral,Neutral,False,0.079,,0.08457,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.0015,2.7342,-5.0578,loss_of_function,-0.700491050969021,0.8868325023954592,,,0.2672,benign,0.082448977,neutral,0.012952604,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617P,NP_000240:p.Lys617Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24182,7.00884,5.8423761238185685,Uncertain,Uncertain,False,0.079,,-0.00603,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.1713,2.7342,-7.7582,loss_of_function,-3.74198526530241,0.5113570916387667,,,0.8544,pathogenic,0.447471043,stabilizing,-0.076954279,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617Q,NP_000240:p.Lys617Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41361,-0.03673,0.3949492902136869,Neutral,Neutral,False,0.079,,-0.00671,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,0.0191,2.7342,-4.7582,gain_of_function,-0.500061943090009,0.9115756701627414,,,0.1044,benign,0.176823194,stabilizing,0.02792298,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617R,NP_000240:p.Lys617Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29584,0.16395,-0.1898149787792025,Neutral,Neutral,False,0.079,,0.01167,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.55,H,0.0837,2.7342,-4.9509,gain_of_function,-0.0956769488547276,0.9614973899210062,,,0.0863,benign,0.049374467,neutral,-0.069584425,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617S,NP_000240:p.Lys617Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01373,0.35136,0.5728412278257274,Neutral,Neutral,False,0.079,,0.00352,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,0.0198,2.7342,-2.4728,gain_of_function,-1.20086862022965,0.8250604061454757,,,0.3176,benign,0.161617354,stabilizing,-0.014167915,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617T,NP_000240:p.Lys617Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71716,0.17075,0.4379457499525796,Neutral,Neutral,False,0.079,,0.00233,,,-0.0388,,Uncertain,Uncertain,Neutral,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,216334,Uncertain significance,2,93.55,H,-0.0098,2.7342,-5.9509,loss_of_function,-0.923991905759226,0.8592411050943084,,,0.1668,benign,0.144522238,stabilizing,-0.098253555,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617V,NP_000240:p.Lys617Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.67538,0.47245,0.2686589124053107,Neutral,Neutral,False,0.079,,0.01036,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,93.55,H,-0.0243,2.7342,-8.7581,loss_of_function,-2.253128698566,0.695157878869814,,,0.3768,ambiguous,0.166532205,stabilizing,0.083460917,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617W,NP_000240:p.Lys617Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54762,-0.05612,-0.3912679578664735,Neutral,Neutral,False,0.079,,-0.00589,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.55,H,-0.1501,2.7342,-22.0459,loss_of_function,-3.52125208426322,0.5386068169309407,,,0.713,pathogenic,0.604828908,stabilizing,0.065022126,neutral,https://doi.org/10.1101/2022.10.22.513328 +K617Y,NP_000240:p.Lys617Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53248,0.22993,0.1402555894610618,Neutral,Neutral,False,0.079,,-0.0066,,,,,Uncertain,Uncertain,Uncertain,91.0,,False,91.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.55,H,-0.1259,2.7342,-22.0459,loss_of_function,-3.52125208426322,0.5386068169309407,,,0.5895,pathogenic,0.294757325,stabilizing,-0.071167334,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618A,NP_000240:p.Lys618Ala,"hg19,3:g.37089130_37089131delinsGC, hg38,3:g.37047639_37047640delinsGC",,,,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82197,0.31973,1.0430156130828352,Neutral,Neutral,False,0.069,,0.01133,,,-0.21683,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,17089,Benign,3,92.87,H,-0.1005,1.5366,-6.4396,loss_of_function,-5.36279978134411,0.31126596757771047,,,0.9292,pathogenic,-0.064838526,neutral,-0.811436856,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618C,NP_000240:p.Lys618Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75361,0.37823,1.2197218551662403,Neutral,Neutral,False,0.069,,0.01413,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.2503,1.5366,-22.0493,loss_of_function,-5.36279978134411,0.31126596757771047,,,0.9302,pathogenic,-0.262532301,destabilizing,-0.935145312,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618D,NP_000240:p.Lys618Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34936,2.20782,1.884189409559806,Uncertain,Neutral,False,0.069,,0.01475,,,0.32022,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.2891,1.5366,-22.0493,loss_of_function,-4.34949883704463,0.4363589519693905,,,0.9579,pathogenic,-0.251770677,destabilizing,-1.049612082,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618E,NP_000240:p.Lys618Glu,"hg19,3:g.37089130A>G, hg38,3:g.37047639A>G",0.0031206215768692,0.0034802045962565,0.874,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5355,0.75952,1.3860114642613153,Neutral,Neutral,False,0.069,,0.0081,,,0.21162,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89903,Conflicting classifications of pathogenicity,1,92.87,H,-0.205,1.5366,-22.0493,loss_of_function,-4.34949883704463,0.4363589519693905,,,0.6492,pathogenic,0.011457677,neutral,-0.313587707,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618F,NP_000240:p.Lys618Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74454,-0.86224,-0.6877852560661984,Neutral,Neutral,False,0.069,,0.0059,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.87,H,-0.1754,1.5366,-7.1765,loss_of_function,-4.27089545194395,0.4460626160988364,,,0.9874,pathogenic,0.036512084,neutral,-0.791938015,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618G,NP_000240:p.Lys618Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82173,2.27687,2.573480387530059,Uncertain,Uncertain,False,0.069,,0.01385,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.2393,1.5366,-22.0493,loss_of_function,-5.56733365138374,0.28601606294042087,,,0.9177,pathogenic,-0.137240382,destabilizing,-0.85228918,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618H,NP_000240:p.Lys618His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24933,0.01361,0.3419093308639237,Neutral,Neutral,False,0.069,,0.03646,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.1173,1.5366,-7.7615,loss_of_function,-3.19850381720284,0.5784504035386064,,,0.5995,pathogenic,0.028656066,neutral,-0.135738347,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618I,NP_000240:p.Lys618Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24279,0.2466,0.3047256953723781,Uncertain,Uncertain,False,0.069,,-0.01352,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,H,-0.2185,1.5366,-22.0493,loss_of_function,-4.46442210042068,0.42217156363957925,,,0.9548,pathogenic,-0.294900294,destabilizing,-0.962456414,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618L,NP_000240:p.Lys618Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40097,-0.12177,-0.5182240814139066,Neutral,Neutral,False,0.069,,0.03295,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,H,-0.2172,1.5366,-22.0493,loss_of_function,-4.46442210042068,0.42217156363957925,,,0.929,pathogenic,-0.388632827,destabilizing,-1.011959461,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618M,NP_000240:p.Lys618Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44202,-0.57211,0.167864598622584,Neutral,Neutral,False,0.069,,-0.00659,,,0.00457,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,188186,Uncertain significance,2,92.87,H,-0.1035,1.5366,-5.0611,loss_of_function,-3.06711578798602,0.5946703831809187,,,0.8014,pathogenic,-0.175350108,destabilizing,-0.552518703,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618N,NP_000240:p.Lys618Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.95184,0.36667,0.8968247734613157,Neutral,Neutral,False,0.069,,-0.00157,,,0.17425,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2586637,Uncertain significance,1,92.87,H,-0.1129,1.5366,-5.3021,loss_of_function,-1.58061217548339,0.7781806959296352,,,0.8344,pathogenic,-0.134821274,destabilizing,-0.208070552,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618P,NP_000240:p.Lys618Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.7202,8.46973,5.985142771173924,Uncertain,Uncertain,False,0.069,,0.01466,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.3544,1.5366,-22.0493,loss_of_function,-5.56733365138374,0.28601606294042087,,,0.9898,pathogenic,-0.538152494,destabilizing,-1.012626629,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618Q,NP_000240:p.Lys618Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24579,0.05714,0.8800980491852836,Neutral,Neutral,False,0.069,,0.00547,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.0984,1.5366,-6.1766,loss_of_function,-3.01578911963409,0.6010067101715775,,,0.4383,ambiguous,-0.069720133,neutral,-0.109796709,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618R,NP_000240:p.Lys618Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02409,0.12449,0.047159664205777,Neutral,Neutral,False,0.069,,0.04075,,,-0.12566,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,-,-,uncertain,neutral,89907,Likely benign,3,92.87,H,-0.0105,1.5366,-1.819,loss_of_function,-0.729083891893276,0.8833026884506746,,,0.1382,benign,-0.09536541,destabilizing,-0.109488571,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618S,NP_000240:p.Lys618Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11098,0.97347,1.7085189936402745,Neutral,Neutral,False,0.069,,0.01773,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.1225,1.5366,-8.7614,loss_of_function,-5.01789213879595,0.35384515058209987,,,0.9287,pathogenic,-0.026374965,neutral,-0.588576776,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618T,NP_000240:p.Lys618Thr,"hg19,3:g.37089131A>C, hg38,3:g.37047640A>C",0.0031206215768692,0.0034723603299737,0.963,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59646,0.42415,1.2089438411801392,Neutral,Neutral,False,0.069,,0.00786,,,0.0234,,Uncertain,Uncertain,Neutral,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89906,Benign,3,92.87,H,-0.2021,1.5366,-22.0493,loss_of_function,-5.36279978134411,0.31126596757771047,,,0.8299,pathogenic,-0.446086597,destabilizing,-0.995656422,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618V,NP_000240:p.Lys618Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21697,-1.04932,0.3319308257934994,Neutral,Neutral,False,0.069,,0.00439,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,H,-0.1346,1.5366,-8.7614,loss_of_function,-4.46442210042068,0.42217156363957925,,,0.9284,pathogenic,-0.291906767,destabilizing,-0.856677253,damaging,https://doi.org/10.1101/2022.10.22.513328 +K618W,NP_000240:p.Lys618Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.3121,-0.64286,-0.600762602519207,Neutral,Neutral,False,0.069,,-0.19257,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.87,H,-0.1925,1.5366,-8.7614,loss_of_function,-4.5446643011856,0.4122655861268675,,,0.961,pathogenic,0.695407045,stabilizing,-0.065113387,neutral,https://doi.org/10.1101/2022.10.22.513328 +K618Y,NP_000240:p.Lys618Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31235,-1.00578,-0.3859802962968872,Neutral,Neutral,False,0.069,,0.0021,,,,,Uncertain,Uncertain,Uncertain,31.0,,False,31.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.87,H,-0.2361,1.5366,-22.0493,loss_of_function,-4.03019397666738,0.4757774466822048,,,0.8986,pathogenic,0.197399439,stabilizing,-0.35039431,neutral,https://doi.org/10.1101/2022.10.22.513328 +A619C,NP_000240:p.Ala619Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74642,0.88401,1.207237442378554,Neutral,Neutral,False,0.061,-0.0003,0.01376,,1e-05,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.0655,2.2421,-8.7647,loss_of_function,-1.89264938896352,0.7396593992752852,,,0.35,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619D,NP_000240:p.Ala619Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44225,1.63707,1.7487841710438496,Neutral,Neutral,False,0.061,-0.13704,0.0342,,-0.0244,-0.01567,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,455408,Uncertain significance,2,92.65,H,-0.2151,2.2421,-22.0526,loss_of_function,-2.5459322503737,0.6590109964039828,,,0.3494,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619E,NP_000240:p.Ala619Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93657,1.56871,1.1485372869069228,Neutral,Neutral,False,0.061,-0.18988,0.07108,,-0.01182,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.2007,2.2421,-22.0526,loss_of_function,-1.90435806614182,0.7382139517211779,,,0.2234,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619F,NP_000240:p.Ala619Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.75339,-0.2432,0.2514745089778009,Neutral,Neutral,False,0.061,-0.0357,0.26282,,-0.03232,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1834,2.2421,-22.0526,loss_of_function,-2.41536642501951,0.6751294741819837,,,0.4281,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619G,NP_000240:p.Ala619Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25238,1.16224,1.8146903508893868,Neutral,Neutral,False,0.061,-0.0001,0.00453,,0.02835,0.14875,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,3230764,Uncertain significance,1,92.65,H,-0.0386,2.2421,-4.7649,loss_of_function,-1.22580343291195,0.8219821793351446,,,0.1114,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619H,NP_000240:p.Ala619His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34546,0.11361,0.6266388262732542,Uncertain,Uncertain,False,0.061,0.03666,0.0919,,-0.07709,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1198,2.2421,-8.7647,loss_of_function,-1.17549093796942,0.8281933056347489,,,0.4097,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619I,NP_000240:p.Ala619Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69817,-0.44626,0.1031137523023006,Neutral,Neutral,False,0.061,-0.0143,0.00973,,-0.16935,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.173,2.2421,-22.0526,loss_of_function,-0.896510490799718,0.8626337124257537,,,0.3131,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619K,NP_000240:p.Ala619Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08321,0.1415,0.8581973247831611,Neutral,Neutral,False,0.061,-0.00296,0.01531,,0.0262,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1163,2.2421,-4.5949,loss_of_function,-1.29409842625068,0.8135510961669968,,,0.3042,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619L,NP_000240:p.Ala619Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31442,-1.21939,0.0122520015422245,Neutral,Neutral,False,0.061,-0.01324,0.05164,,0.04573,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1777,2.2421,-22.0526,loss_of_function,-2.59488710425718,0.6529674722099174,,,0.2558,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619M,NP_000240:p.Ala619Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43143,0.14796,0.3051194161723752,Neutral,Neutral,False,0.061,-0.0072,0.00814,,0.02774,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1365,2.2421,-22.0526,loss_of_function,-2.59488710425718,0.6529674722099174,,,0.21,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619N,NP_000240:p.Ala619Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28558,0.56327,1.0553288149552775,Neutral,Neutral,False,0.061,-0.00096,0.00142,,-0.00033,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1095,2.2421,-7.1799,loss_of_function,-1.56695411309563,0.7798667969785924,,,0.2439,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619P,NP_000240:p.Ala619Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26374,9.43367,3.561658481822888,Uncertain,Uncertain,False,0.061,-0.03392,0.02441,,-0.05057,-0.03221,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,89909,Likely pathogenic,3,92.65,H,-0.2548,2.2421,-22.0526,loss_of_function,-2.97337089411567,0.6062432812539886,,,0.8526,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619Q,NP_000240:p.Ala619Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57561,0.38776,0.9490701788761354,Neutral,Neutral,False,0.061,-0.00232,0.01611,,0.08322,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1151,2.2421,-8.7647,loss_of_function,-1.81021794184461,0.7498356413737844,,,0.2607,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619R,NP_000240:p.Ala619Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23897,-0.76224,0.2421291469442632,Neutral,Neutral,False,0.061,0.04582,0.00569,,0.0332,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1122,2.2421,-1.6988,loss_of_function,-0.97773083914646,0.8526069816453441,,,0.2332,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619S,NP_000240:p.Ala619Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36501,0.28605,1.0774023979129088,Neutral,Neutral,False,0.061,-0.0001,-0.00477,,-0.14069,-0.09412,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,-,-,uncertain,neutral,1061999,Uncertain significance,1,92.65,H,-0.0024,2.2421,-3.3054,loss_of_function,-0.106286618257628,0.9601876159427184,,,0.0805,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619T,NP_000240:p.Ala619Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12006,0.83265,0.7987925947409774,Neutral,Neutral,False,0.061,-0.01164,0.0034,,0.00772,0.47129,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,830279,Conflicting classifications of pathogenicity,1,92.65,H,-0.0085,2.2421,-3.3386,loss_of_function,-0.0530476523667624,0.9667600179193289,,,0.0768,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619V,NP_000240:p.Ala619Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38239,-0.04626,0.189837522398637,Neutral,Neutral,False,0.061,-0.01182,0.00741,,-0.05663,-0.02437,,Uncertain,Neutral,Neutral,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,922874,Uncertain significance,2,92.65,H,-0.0251,2.2421,-7.1799,loss_of_function,-2.13517378432282,0.7097195274396224,,,0.1398,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619W,NP_000240:p.Ala619Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.49526,0.34116,-0.0893317782643765,Uncertain,Uncertain,False,0.061,-0.08616,0.13152,,0.07186,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.1944,2.2421,-22.0526,loss_of_function,-2.69055957949272,0.6411566123477207,,,0.678,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A619Y,NP_000240:p.Ala619Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61282,0.00612,0.399924427142066,Neutral,Neutral,False,0.061,0.02312,0.29861,,0.15206,,,Uncertain,Neutral,Uncertain,23.1,,False,23.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.65,H,-0.2026,2.2421,-22.0526,loss_of_function,-2.69055957949272,0.6411566123477207,,,0.422,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E620A,NP_000240:p.Glu620Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26352,-0.15442,0.0550386281463027,Neutral,Neutral,False,0.05,0.0635,0.33716,,-0.00337,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.082,1.5892,-4.121,loss_of_function,-1.04723329285192,0.844026836323787,,,0.1561,benign,-0.105131878,destabilizing,-0.207750941,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620C,NP_000240:p.Glu620Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71463,1.19932,0.9308786672018182,Neutral,Neutral,False,0.05,0.0635,0.14887,,-0.02458,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.2428,1.5892,-22.0526,loss_of_function,-3.61575729257239,0.5269400573029565,,,0.8505,pathogenic,-0.115057806,destabilizing,-0.096539256,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620D,NP_000240:p.Glu620Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02719,0.1483,-0.0376418996657168,Neutral,Neutral,False,0.05,-0.07226,0.15464,,-0.01315,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.0444,1.5892,-3.4795,loss_of_function,-0.879266910468778,0.8647624491424517,,,0.1733,benign,-0.085568575,destabilizing,0.088484575,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620F,NP_000240:p.Glu620Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60002,0.29966,-0.3853703686044546,Neutral,Neutral,False,0.05,0.06352,-0.05409,,-0.02101,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2205,1.5892,-22.0526,loss_of_function,-4.64449329136547,0.3999416004633183,,,0.8437,pathogenic,-0.110893165,destabilizing,-0.212744868,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620G,NP_000240:p.Glu620Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72393,0.84558,0.7334433721796491,Neutral,Neutral,False,0.05,0.0628,0.55601,,-0.10477,0.1757,,Uncertain,Neutral,Neutral,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1781454,Uncertain significance,1,92.06,H,-0.1233,1.5892,-7.1799,loss_of_function,-3.0679010918215,0.5945734366607489,,,0.1494,benign,-0.120630152,destabilizing,-0.04563786,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620H,NP_000240:p.Glu620His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69047,-0.11701,-0.3453519185162718,Neutral,Neutral,False,0.05,0.0619,-0.07802,,-0.05364,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2117,1.5892,-22.0526,loss_of_function,-4.64449329136547,0.3999416004633183,,,0.5654,pathogenic,-0.102194362,destabilizing,-0.293269713,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620I,NP_000240:p.Glu620Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05609,0.21224,-0.2732004031145046,Neutral,Neutral,False,0.05,0.06644,0.06448,,-0.00304,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2258,1.5892,-22.0526,loss_of_function,-3.3183779391163,0.5636518269204296,,,0.4583,ambiguous,-0.037547192,neutral,-0.090315655,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620K,NP_000240:p.Glu620Lys,"hg19,3:g.37089136G>A, hg38,3:g.37047645G>A",,,0.645,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16221,-0.67925,-0.0076849590216582,Neutral,Neutral,False,0.05,0.16858,-0.20589,,0.11211,-0.27695,,Uncertain,Neutral,Neutral,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.1175,1.5892,-6.7648,loss_of_function,-1.35261416712777,0.8063272712003026,,,0.1498,benign,-0.174384985,destabilizing,-0.054519415,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620L,NP_000240:p.Glu620Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19152,0.03605,-0.4100745527423244,Neutral,Neutral,False,0.05,0.0637,0.04059,,0.01503,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2279,1.5892,-22.0526,loss_of_function,-3.8717820967919,0.4953335468992233,,,0.4766,ambiguous,-0.062067151,neutral,-0.096565001,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620M,NP_000240:p.Glu620Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12411,0.37483,0.0137148410524079,Neutral,Neutral,False,0.05,0.05542,0.05406,,-0.002,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.1039,1.5892,-7.7648,loss_of_function,-2.77801243064176,0.6303604730513563,,,0.5364,ambiguous,-0.073538958,neutral,-0.037876591,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620N,NP_000240:p.Glu620Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40059,0.22653,0.1798477086938565,Neutral,Neutral,False,0.05,0.0635,0.16392,,0.00214,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.1175,1.5892,-5.9575,loss_of_function,-1.47826592059525,0.7908154403629584,,,0.3763,ambiguous,-0.179320221,destabilizing,-0.20466744,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620P,NP_000240:p.Glu620Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.17935,0.07279,0.7608030000183569,Neutral,Neutral,False,0.05,0.0635,0.42052,,0.01409,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.2396,1.5892,-4.2413,loss_of_function,-1.68448794554515,0.7653571313646256,,,0.5161,ambiguous,-0.158403834,destabilizing,-0.059339438,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620Q,NP_000240:p.Glu620Gln,"hg19,3:g.37089136G>C",,,0.666,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03283,-0.31395,0.1066491716498591,Neutral,Neutral,False,0.05,-0.01302,0.03005,,0.0611,-0.45038,,Uncertain,Neutral,Neutral,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.065,1.5892,-6.1799,loss_of_function,-2.95504634703604,0.6085054643642603,,,0.1629,benign,-0.119907642,destabilizing,-0.175009143,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620R,NP_000240:p.Glu620Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44401,-0.09898,-0.1953740652839175,Neutral,Neutral,False,0.05,0.17792,-0.50145,,0.07864,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.1882,1.5892,-8.7647,loss_of_function,-2.92002093799848,0.6128293850816902,,,0.2761,benign,-0.15377776,destabilizing,-0.284644267,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620S,NP_000240:p.Glu620Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55451,0.18946,0.1593108964989753,Neutral,Neutral,False,0.05,0.0635,0.11499,,0.04082,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.111,1.5892,-7.1799,loss_of_function,-2.09249576127575,0.7149881707789274,,,0.2501,benign,-0.11549904,destabilizing,-0.308335764,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620T,NP_000240:p.Glu620Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47988,0.25068,0.1607250391814607,Neutral,Neutral,False,0.05,0.0635,-0.25569,,0.01338,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.06,H,-0.1299,1.5892,-7.7648,loss_of_function,-1.8153720961562,0.7491993560249163,,,0.2807,benign,-0.152963042,destabilizing,-0.136852444,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620V,NP_000240:p.Glu620Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42744,0.17551,0.0652331599496724,Neutral,Neutral,False,0.05,0.0635,0.19235,,-0.00891,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.06,H,-0.1108,1.5892,-7.1799,loss_of_function,-1.52345690049104,0.785236570063319,,,0.2357,benign,-0.077215366,neutral,-0.150289081,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620W,NP_000240:p.Glu620Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23022,-1.54286,-0.7421077294606188,Neutral,Neutral,False,0.05,0.06222,0.36042,,-0.0293,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2305,1.5892,-22.0526,loss_of_function,-4.64449329136547,0.3999416004633183,,,0.9371,pathogenic,-0.016535878,neutral,-0.326275896,neutral,https://doi.org/10.1101/2022.10.22.513328 +E620Y,NP_000240:p.Glu620Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09824,-1.18844,-0.3326292006081,Neutral,Neutral,False,0.05,0.0635,-0.05402,,-0.08994,,,Uncertain,Neutral,Uncertain,112.3,,False,112.3,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.06,H,-0.2213,1.5892,-22.0526,loss_of_function,-4.64449329136547,0.3999416004633183,,,0.7614,pathogenic,-0.097442663,destabilizing,-0.270772875,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621A,NP_000240:p.Met621Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99635,1.06361,1.2942346991801834,Uncertain,Uncertain,False,0.073,0.02714,0.53343,,-0.01949,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.3777,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9802,pathogenic,-0.087422703,destabilizing,-0.579127126,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621C,NP_000240:p.Met621Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.95222,1.15578,1.609404652924136,Uncertain,Uncertain,False,0.073,-0.00718,0.6568,,-0.20822,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.3832,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9864,pathogenic,-0.096313679,destabilizing,-0.308594957,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621D,NP_000240:p.Met621Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.10849,1.17449,1.2235678744125766,Uncertain,Uncertain,False,0.073,-0.1239,0.37853,,0.04305,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4892,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9975,pathogenic,-0.093160454,destabilizing,-0.614717804,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621E,NP_000240:p.Met621Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3033,0.63231,0.8705280156459899,Uncertain,Uncertain,False,0.073,-0.12112,-0.72398,,-0.03941,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4794,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9895,pathogenic,-0.084713486,destabilizing,-0.73550927,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621F,NP_000240:p.Met621Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52831,-0.12721,-0.1153649082451441,Neutral,Neutral,False,0.073,0.00294,0.67461,,-0.02151,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.62,H,-0.3828,0.2503,-22.0559,loss_of_function,-4.94449430271075,0.36290618463663377,,,0.8665,pathogenic,-0.203200286,destabilizing,-0.43825982,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621G,NP_000240:p.Met621Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76007,2.69456,2.2800847703372966,Uncertain,Uncertain,False,0.073,0.01144,1.26338,,-0.18759,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4586,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9892,pathogenic,-0.278159014,destabilizing,-0.851973277,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621H,NP_000240:p.Met621His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.85404,0.7983,0.4361424700893401,Uncertain,Uncertain,False,0.073,0.00358,0.89037,,0.0038,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.436,0.2503,-22.0559,loss_of_function,-5.31269763512397,0.3174511261235149,,,0.9888,pathogenic,-0.048956847,neutral,-0.769859355,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621I,NP_000240:p.Met621Ile,"hg19,3:g.37089141G>A, hg38,3:g.37047650G>A",,,0.829,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.15615,-1.09864,-0.0901333871332044,Uncertain,Uncertain,False,0.073,-0.00682,-0.27181,,-0.0511,0.97964,,Uncertain,Neutral,Neutral,26.7,,False,26.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.62,H,-0.295,0.2503,-22.0559,loss_of_function,-3.04144076531122,0.5978399896327661,,,0.9449,pathogenic,-0.122067722,destabilizing,-0.347237375,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621K,NP_000240:p.Met621Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25201,1.05816,0.9430887921307562,Uncertain,Uncertain,False,0.073,0.05234,0.80329,,0.04264,0.72027,,Uncertain,Neutral,Neutral,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,583218,Uncertain significance,1,92.62,H,-0.4403,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.963,pathogenic,-0.139302163,destabilizing,-0.590593434,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621L,NP_000240:p.Met621Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00537,0.06905,-0.2565959018110819,Neutral,Neutral,False,0.073,0.01224,-0.00403,,0.11322,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.62,H,-0.1738,0.2503,-4.7682,loss_of_function,-0.612990557430751,0.8976345231909831,,,0.4051,ambiguous,-0.058484852,neutral,-0.217654261,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621N,NP_000240:p.Met621Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34819,1.04456,0.91064857105162,Uncertain,Uncertain,False,0.073,0.03074,1.21421,,-0.03876,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4308,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9818,pathogenic,-0.094488784,destabilizing,-0.834789868,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621P,NP_000240:p.Met621Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64097,5.15748,3.6241278765226,Uncertain,Uncertain,False,0.073,0.00764,0.62522,,0.06297,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.5487,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9943,pathogenic,-0.073308596,neutral,-0.538444799,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621Q,NP_000240:p.Met621Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48849,0.17823,0.8800114569679912,Uncertain,Uncertain,False,0.073,0.00396,0.32862,,0.0671,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4229,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9621,pathogenic,-0.154576568,destabilizing,-0.582364706,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621R,NP_000240:p.Met621Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.51093,0.92041,0.4049303303308676,Uncertain,Uncertain,False,0.073,0.11136,1.00545,,-0.07169,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.62,H,-0.4676,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.974,pathogenic,-0.097812724,destabilizing,-0.696224258,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621S,NP_000240:p.Met621Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91365,1.84796,1.4810231539505962,Uncertain,Uncertain,False,0.073,0.03168,0.98544,,0.01234,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.4091,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9845,pathogenic,-0.071838162,neutral,-0.770907486,damaging,https://doi.org/10.1101/2022.10.22.513328 +M621T,NP_000240:p.Met621Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89239,0.58129,0.8152261720113199,Uncertain,Uncertain,False,0.073,0.02246,1.01946,,0.01854,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.3489,0.2503,-22.0559,loss_of_function,-5.63876576240066,0.27719769955215645,,,0.9718,pathogenic,-0.169953431,destabilizing,-0.289301963,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621V,NP_000240:p.Met621Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71115,-0.65714,0.2119981941467763,Uncertain,Uncertain,False,0.073,-0.00732,0.00802,,-0.01945,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.62,H,-0.2593,0.2503,-8.768,loss_of_function,-3.1837050120414,0.5802773303894003,,,0.6622,pathogenic,-0.157303299,destabilizing,-0.254710752,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621W,NP_000240:p.Met621Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53818,-0.19218,-0.3475560463160715,Uncertain,Uncertain,False,0.073,0.02412,0.42983,,0.02749,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.62,H,-0.4456,0.2503,-22.0559,loss_of_function,-5.31269763512397,0.3174511261235149,,,0.9884,pathogenic,-0.028136104,neutral,-0.400744425,neutral,https://doi.org/10.1101/2022.10.22.513328 +M621Y,NP_000240:p.Met621Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70669,-0.74728,0.1373164641005736,Neutral,Neutral,False,0.073,0.02052,1.29704,,-0.00336,,,Uncertain,Neutral,Uncertain,26.7,,False,26.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.62,H,-0.4251,0.2503,-22.0559,loss_of_function,-5.31269763512397,0.3174511261235149,,,0.9746,pathogenic,0.001795221,neutral,-0.643038267,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622A,NP_000240:p.Leu622Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.03427,3.45986,3.334650196476203,Destabilizing,Destabilizing,False,0.11,-0.01926,0.0132,,-0.00393,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.3959,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.8365,pathogenic,-0.040238791,neutral,-1.013580075,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622C,NP_000240:p.Leu622Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.99028,3.78367,3.5357728042283587,Destabilizing,Destabilizing,False,0.11,-0.01832,0.01203,,-0.02189,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.3851,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9158,pathogenic,0.26485639,stabilizing,-0.596803352,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622D,NP_000240:p.Leu622Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.88677,4.51701,4.056089358306862,Destabilizing,Destabilizing,False,0.11,-0.1421,0.02371,,-0.03143,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.5174,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9984,pathogenic,-0.81347133,destabilizing,-1.002323779,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622E,NP_000240:p.Leu622Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.31505,3.88197,3.636990327003647,Destabilizing,Destabilizing,False,0.11,-0.12218,0.02853,,-0.0156,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.4855,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9882,pathogenic,-0.736537817,destabilizing,-1.014491359,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622F,NP_000240:p.Leu622Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1238,1.93741,0.8586798702666559,Neutral,Neutral,False,0.11,0.00126,0.14234,,-0.10463,0.19525,,,Neutral,Neutral,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1781556,Uncertain significance,2,93.02,H,-0.3293,0.2466,-22.0559,loss_of_function,-3.86274386866754,0.4964493249275076,,,0.5845,pathogenic,0.022693418,neutral,-0.474624929,neutral,https://doi.org/10.1101/2022.10.22.513328 +L622G,NP_000240:p.Leu622Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.71221,5.31293,5.131048511601104,Destabilizing,Destabilizing,False,0.11,-0.03326,-0.03505,,-0.04967,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.4707,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9789,pathogenic,-0.686480772,destabilizing,-1.027026232,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622H,NP_000240:p.Leu622His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.7186,3.21803,2.4275109098131087,Uncertain,Uncertain,False,0.11,0.00114,-0.00392,,0.10673,0.08711,,,Neutral,Neutral,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,29657,Pathogenic,3,93.02,H,-0.4383,0.2466,-22.0559,loss_of_function,-5.23023196038549,0.327631593654848,,,0.9745,pathogenic,-0.809879863,destabilizing,-1.096726892,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622I,NP_000240:p.Leu622Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68025,2.67585,1.5779844954158928,Uncertain,Uncertain,False,0.11,-0.00512,-0.01563,,0.02279,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.02,H,-0.189,0.2466,-6.1832,loss_of_function,-2.34584728658941,0.6837116792489804,,,0.2409,benign,0.018494654,neutral,-0.41163506,neutral,https://doi.org/10.1101/2022.10.22.513328 +L622K,NP_000240:p.Leu622Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92426,5.43027,4.305285837421613,Uncertain,Uncertain,False,0.11,0.02158,0.02647,,0.10097,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.02,H,-0.4845,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9889,pathogenic,-0.713232157,destabilizing,-1.041288293,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622M,NP_000240:p.Leu622Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08815,1.35782,1.145166415813852,Neutral,Neutral,False,0.11,-0.02016,-0.01448,,-0.06668,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.02,H,-0.2112,0.2466,-5.9608,loss_of_function,-0.542688223154938,0.9063134145447682,,,0.2173,benign,0.066308453,neutral,-0.104319041,neutral,https://doi.org/10.1101/2022.10.22.513328 +L622N,NP_000240:p.Leu622Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.57944,3.46156,3.175942047487208,Destabilizing,Destabilizing,False,0.11,-0.00542,0.02348,,-0.0004,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.4637,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9889,pathogenic,-0.755929941,destabilizing,-0.987524496,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622P,NP_000240:p.Leu622Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.18365,9.08776,8.42629365099511,Destabilizing,Destabilizing,False,0.11,0.033,0.2902,,0.12917,0.18527,,,Neutral,Neutral,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89911,Pathogenic,3,93.02,H,-0.4793,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9911,pathogenic,-0.785580958,destabilizing,-1.057335451,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622Q,NP_000240:p.Leu622Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.27726,3.50068,2.827191302397788,Destabilizing,Uncertain,False,0.11,-0.01586,-0.00046,,0.02426,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.4167,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9532,pathogenic,-0.851531422,destabilizing,-0.990293652,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622R,NP_000240:p.Leu622Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.07516,4.57857,3.422873343543867,Destabilizing,Destabilizing,False,0.11,0.11948,0.02375,,0.01228,0.31845,,,Neutral,Neutral,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1781578,Likely pathogenic,1,93.02,H,-0.4761,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.9757,pathogenic,-0.743949227,destabilizing,-1.025338879,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622S,NP_000240:p.Leu622Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.86334,4.42857,4.229586615139183,Destabilizing,Destabilizing,False,0.11,-0.01544,0.01791,,0.03565,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.4263,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.966,pathogenic,-0.545306371,destabilizing,-0.831026974,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622T,NP_000240:p.Leu622Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.59135,4.05306,3.523086026698705,Destabilizing,Destabilizing,False,0.11,-0.01606,0.07732,,-0.11302,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.02,H,-0.399,0.2466,-22.0559,loss_of_function,-5.98604855037153,0.2343253025416394,,,0.8505,pathogenic,-0.053580376,neutral,-0.845408847,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622V,NP_000240:p.Leu622Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.04611,3.48469,1.9924561383833703,Destabilizing,Uncertain,False,0.11,-0.00932,0.02248,,-0.11691,-0.00534,,,Neutral,Neutral,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2838582,Uncertain significance,1,93.02,H,-0.2385,0.2466,-8.768,loss_of_function,-3.41111799316955,0.552202977297392,,,0.2743,benign,0.14250716,stabilizing,-0.343132057,neutral,https://doi.org/10.1101/2022.10.22.513328 +L622W,NP_000240:p.Leu622Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.23439,4.73776,1.6726934092108483,Destabilizing,Uncertain,False,0.11,-0.0055,0.17588,,-0.01307,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.02,H,-0.4285,0.2466,-22.0559,loss_of_function,-5.23023196038549,0.327631593654848,,,0.9188,pathogenic,-0.595804099,destabilizing,-0.990577622,damaging,https://doi.org/10.1101/2022.10.22.513328 +L622Y,NP_000240:p.Leu622Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92936,2.69116,1.587349795617167,Uncertain,Uncertain,False,0.11,-0.00356,0.15851,,-0.11422,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.02,H,-0.4214,0.2466,-22.0559,loss_of_function,-5.23023196038549,0.327631593654848,,,0.9561,pathogenic,-0.472695919,destabilizing,-1.040121375,damaging,https://doi.org/10.1101/2022.10.22.513328 +A623C,NP_000240:p.Ala623Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26834,0.40272,0.9885359268086092,Neutral,Neutral,False,0.085,0.03702,0.09887,,-0.00695,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0375,3.2839,-22.0559,loss_of_function,-1.75595271490001,0.7565347362728666,,,0.3408,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623D,NP_000240:p.Ala623Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57776,0.96429,0.9672734015277876,Neutral,Neutral,False,0.085,-0.32682,0.0379,,-0.02237,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0243,3.2839,-3.4463,loss_of_function,-0.58966617346951,0.9005139410137171,,,0.2142,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623E,NP_000240:p.Ala623Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70301,0.40578,0.4398905950389997,Neutral,Neutral,False,0.085,-0.42586,0.08267,,0.02909,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0057,3.2839,-2.6184,loss_of_function,-0.314116860880873,0.9345307709127735,,,0.1413,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623F,NP_000240:p.Ala623Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2646,-0.81905,-0.3903732252225195,Neutral,Neutral,False,0.085,-0.0129,0.0115,,0.13044,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0066,3.2839,-6.1832,loss_of_function,-1.10614114744458,0.8367546045385879,,,0.2877,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623G,NP_000240:p.Ala623Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83639,0.94762,1.311277562599204,Neutral,Neutral,False,0.085,0.0366,0.00666,,0.14129,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.66,H,0.053,3.2839,-5.5982,gain_of_function,-0.693524126879906,0.8876925759315992,,,0.1055,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623H,NP_000240:p.Ala623His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03523,-0.67347,0.1285152459309757,Neutral,Neutral,False,0.085,0.15692,-0.03962,,0.28067,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0137,3.2839,-6.7682,loss_of_function,-1.37002237366272,0.8041782112190459,,,0.3187,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623I,NP_000240:p.Ala623Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2775,-1.00408,-0.236646618429076,Neutral,Neutral,False,0.085,0.07234,0.04222,,0.08584,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0771,3.2839,-22.0559,loss_of_function,-2.08473292664992,0.715946500242792,,,0.2413,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623K,NP_000240:p.Ala623Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59148,-0.57517,0.1620539667646697,Neutral,Neutral,False,0.085,0.2529,-0.00275,,0.10149,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0112,3.2839,-2.7909,loss_of_function,-0.233381200292135,0.9444976665193505,,,0.2305,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623L,NP_000240:p.Ala623Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37582,-0.9017,-0.4389912370893523,Neutral,Neutral,False,0.085,0.07634,0.0469,,0.12904,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,0.0156,3.2839,-2.9608,gain_of_function,-0.895398769734541,0.8627709554695271,,,0.1487,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623M,NP_000240:p.Ala623Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51884,0.03639,0.0443422741557381,Neutral,Neutral,False,0.085,0.05614,0.02773,,0.05664,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,0.0353,3.2839,-7.1832,gain_of_function,-0.851259705213018,0.8682199657959425,,,0.1947,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623N,NP_000240:p.Ala623Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86617,0.24864,0.6508945940919031,Neutral,Neutral,False,0.085,0.17744,0.05246,,-0.02989,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0035,3.2839,-5.1832,loss_of_function,-0.618390446851062,0.8969679016046007,,,0.2023,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623P,NP_000240:p.Ala623Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.00556,8.11565,7.347087505638778,Destabilizing,Destabilizing,False,0.085,0.07174,0.09425,,6e-05,0.14956,,Uncertain,Neutral,Neutral,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,650527,Uncertain significance,1,92.66,H,-0.1589,3.2839,-22.0559,loss_of_function,-2.63552307159209,0.6479509226289034,,,0.753,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623Q,NP_000240:p.Ala623Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11558,-0.04218,0.4689610899526475,Neutral,Neutral,False,0.085,0.05854,0.00716,,0.09025,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,0.006,3.2839,-3.814,gain_of_function,-0.312214956582632,0.9347655628430808,,,0.1969,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623R,NP_000240:p.Ala623Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85681,-1.50476,-0.1833904232842825,Neutral,Neutral,False,0.085,0.14454,-0.01734,,0.04706,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0348,3.2839,-5.3087,loss_of_function,-0.251127459021395,0.9423068736668236,,,0.2025,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623S,NP_000240:p.Ala623Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29652,0.29592,0.832352944255455,Neutral,Neutral,False,0.085,-0.02266,0.03567,,-0.0642,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.66,H,0.0855,3.2839,-4.8613,gain_of_function,-1.12928740878388,0.8338971761262967,,,0.0873,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623T,NP_000240:p.Ala623Thr,"hg19,3:g.37089145G>A, hg38,3:g.37047654G>A",,,0.427,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2064,-0.41973,0.5470685805364495,Neutral,Neutral,False,0.085,-0.01874,0.07586,,0.11308,0.00412,,Uncertain,Neutral,Neutral,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,0.0699,3.2839,-6.7682,gain_of_function,-0.0501233456169258,0.9671210264239314,,,0.0835,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623V,NP_000240:p.Ala623Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01722,-0.86361,-0.0190279681763499,Neutral,Neutral,False,0.085,0.0064,0.0956,,0.0702,0.01807,,Uncertain,Neutral,Neutral,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,405384,Uncertain significance,1,92.66,H,0.0677,3.2839,-7.7681,gain_of_function,-2.08473292664992,0.715946500242792,,,0.1221,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623W,NP_000240:p.Ala623Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36967,-0.20238,-0.7608781150786298,Neutral,Neutral,False,0.085,0.18736,-0.02711,,-0.0436,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0205,3.2839,-6.7682,loss_of_function,-1.35180251721941,0.8064274701687228,,,0.5646,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A623Y,NP_000240:p.Ala623Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5981,-0.78673,-0.2037172560178002,Neutral,Neutral,False,0.085,0.11324,-0.00131,,0.16955,,,Uncertain,Neutral,Uncertain,46.7,,False,46.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.66,H,-0.0258,3.2839,-6.1832,loss_of_function,-0.548251075560769,0.9056266750197627,,,0.3504,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +D624A,NP_000240:p.Asp624Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.76285,-0.80544,-0.0849516893206159,Neutral,Neutral,False,0.068,1.79366,1.41451,,0.46181,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.84,H,-0.2465,1.1009,-22.0559,loss_of_function,-4.99270864470142,0.35695407735397106,,,0.7529,pathogenic,-0.122609394,destabilizing,-0.340139979,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624C,NP_000240:p.Asp624Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.70552,-0.20374,0.6431676081235373,Neutral,Neutral,False,0.068,1.44058,1.20099,,0.20448,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.84,H,-0.2879,1.1009,-22.0559,loss_of_function,-4.99270864470142,0.35695407735397106,,,0.9508,pathogenic,-0.003997656,neutral,-0.513447957,damaging,https://doi.org/10.1101/2022.10.22.513328 +D624E,NP_000240:p.Asp624Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.78079,-0.42415,-0.0672954437764516,Neutral,Neutral,False,0.068,0.99042,0.58774,,0.04071,,,Uncertain,Neutral,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.0841,1.1009,-1.0335,loss_of_function,-0.502001525482696,0.91133622683513,,,0.5378,ambiguous,0.189459271,stabilizing,-0.051768507,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624F,NP_000240:p.Asp624Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.11501,-0.90782,-0.5300273843415659,Neutral,Neutral,False,0.068,1.79168,0.73233,,0.12722,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.3466,1.1009,-22.0559,loss_of_function,-4.88208154460519,0.3706111001599663,,,0.9615,pathogenic,-0.04934179,neutral,-0.309134484,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624G,NP_000240:p.Asp624Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06307,0.20884,0.7266453040083359,Neutral,Neutral,False,0.068,1.4916,1.58217,,0.14383,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.84,H,-0.2576,1.1009,-22.0559,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.785,pathogenic,-0.144274327,destabilizing,-0.495842102,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624H,NP_000240:p.Asp624His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.92846,-0.45952,-0.366805901568123,Neutral,Neutral,False,0.068,2.02232,0.57678,,0.33664,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.188,1.1009,-8.768,loss_of_function,-4.2693937082953,0.4462480078088291,,,0.8954,pathogenic,-0.127090102,destabilizing,-0.541783237,damaging,https://doi.org/10.1101/2022.10.22.513328 +D624I,NP_000240:p.Asp624Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.78328,-1.11803,-0.434143657465274,Neutral,Neutral,False,0.068,1.77594,2.2671,,0.08452,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.3388,1.1009,-22.0559,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.9302,pathogenic,-0.030115147,neutral,-0.306525892,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624K,NP_000240:p.Asp624Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.87329,-1.06565,-0.2846903911478532,Neutral,Neutral,False,0.068,1.81398,1.38017,,0.25194,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.3172,1.1009,-22.0559,loss_of_function,-4.54360244347439,0.4123966734912304,,,0.9489,pathogenic,-0.201712824,destabilizing,-0.375186829,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624L,NP_000240:p.Asp624Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.33886,-1.29524,-0.6531820236076896,Neutral,Neutral,False,0.068,1.85658,1.32235,,0.05256,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.3325,1.1009,-22.0559,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.9214,pathogenic,0.049004318,neutral,-0.354282029,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624M,NP_000240:p.Asp624Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.01261,-0.66701,-0.3136948416393409,Uncertain,Uncertain,False,0.068,1.80254,1.32531,,0.12477,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.2712,1.1009,-22.0559,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.9733,pathogenic,-0.066483311,neutral,-0.221514892,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624N,NP_000240:p.Asp624Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.97242,-0.88946,0.1044094745174367,Neutral,Neutral,False,0.068,1.28286,0.66353,,0.23414,0.4941,,Uncertain,Uncertain,Neutral,85.8,,False,85.8,,neutral,neutral,neutral,-,-,uncertain,neutral,1781687,Uncertain significance,1,90.84,H,-0.2132,1.1009,-22.0559,loss_of_function,-2.67061919812321,0.6436182717683034,,,0.5243,ambiguous,-0.157985382,destabilizing,-0.423408145,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624P,NP_000240:p.Asp624Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99909,2.33027,5.697385813983278,Uncertain,Uncertain,False,0.068,1.96998,2.66687,,0.11242,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.84,H,-0.3834,1.1009,-22.0559,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.9927,pathogenic,-0.030418989,neutral,-0.999799274,damaging,https://doi.org/10.1101/2022.10.22.513328 +D624Q,NP_000240:p.Asp624Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.5852,-0.62313,0.0298610618671013,Neutral,Neutral,False,0.068,1.70288,0.86132,,0.10607,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.2056,1.1009,-8.768,loss_of_function,-1.56764155771277,0.7797819312738421,,,0.9042,pathogenic,-0.108979023,destabilizing,-0.491620688,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624R,NP_000240:p.Asp624Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.67444,-1.45544,-0.5302896445499855,Neutral,Neutral,False,0.068,2.19518,1.46757,,0.32327,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.3482,1.1009,-22.0559,loss_of_function,-4.88208154460519,0.3706111001599663,,,0.931,pathogenic,-0.165713738,destabilizing,-0.447809414,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624S,NP_000240:p.Asp624Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58817,-0.36633,0.2621612221257458,Neutral,Neutral,False,0.068,1.1542,0.9088,,0.28161,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.84,H,-0.18,1.1009,-7.7681,loss_of_function,-4.99270864470142,0.35695407735397106,,,0.5806,pathogenic,-0.11620285,destabilizing,-0.429182681,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624T,NP_000240:p.Asp624Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.0181,-0.94014,-0.052477244450354,Neutral,Neutral,False,0.068,1.55362,0.51896,,0.25919,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.84,H,-0.2829,1.1009,-22.0559,loss_of_function,-4.99270864470142,0.35695407735397106,,,0.8494,pathogenic,-0.098277735,destabilizing,-0.435815737,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624V,NP_000240:p.Asp624Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.33315,-1.32517,-0.3302985675376163,Neutral,Neutral,False,0.068,1.7607,2.24307,,0.20335,0.28292,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1378289,Uncertain significance,1,90.84,H,-0.2257,1.1009,-8.768,loss_of_function,-5.18182692144539,0.33360724266087816,,,0.7975,pathogenic,0.001213139,neutral,-0.334718983,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624W,NP_000240:p.Asp624Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.95471,-1.22619,-0.9451247280215186,Neutral,Neutral,False,0.068,1.2305,1.62428,,-0.01972,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.327,1.1009,-22.0559,loss_of_function,-4.88208154460519,0.3706111001599663,,,0.9924,pathogenic,-0.05829602,neutral,-0.477549235,neutral,https://doi.org/10.1101/2022.10.22.513328 +D624Y,NP_000240:p.Asp624Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.13623,-0.5585,-0.4146110629591953,Neutral,Neutral,False,0.068,1.90996,1.28095,,0.20055,,,Uncertain,Uncertain,Uncertain,85.8,,False,85.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,90.84,H,-0.2914,1.1009,-22.0559,loss_of_function,-4.88208154460519,0.3706111001599663,,,0.7924,pathogenic,-0.048202254,neutral,-0.54749632,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625A,NP_000240:p.Tyr625Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45332,2.91224,2.4403103724448574,Uncertain,Uncertain,False,0.109,0.21232,1.18312,,-0.16875,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4429,0.0893,-22.0526,loss_of_function,-5.67597765972351,0.2726038547351952,,,0.9817,pathogenic,-0.027801485,neutral,-0.735565231,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625C,NP_000240:p.Tyr625Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37047,2.48946,2.6819310460255243,Uncertain,Uncertain,False,0.109,0.1357,1.09959,,-0.08877,0.6708,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,232394,Uncertain significance,2,91.57,H,-0.4135,0.0893,-22.0526,loss_of_function,-5.35638904946119,0.31205737864653543,,,0.849,pathogenic,-0.060624752,neutral,-0.316079925,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y625D,NP_000240:p.Tyr625Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71781,2.69626,3.020595905440435,Uncertain,Destabilizing,False,0.109,-0.25958,0.4337,,-0.02027,0.65786,,Uncertain,Neutral,Neutral,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4571,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9704,pathogenic,-0.022516862,neutral,-0.803357465,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625E,NP_000240:p.Tyr625Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.87196,3.1068,2.5487590622970537,Uncertain,Uncertain,False,0.109,-0.30548,-0.04607,,-0.061,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4858,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9965,pathogenic,0.044882304,neutral,-1.034913285,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625F,NP_000240:p.Tyr625Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35325,0.19762,0.3943679434097075,Neutral,Neutral,False,0.109,-0.0302,0.09157,,0.0189,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,-,-,uncertain,neutral,,,,91.57,H,-0.2075,0.0893,-7.7648,loss_of_function,-3.41044390686744,0.5522861939051953,,,0.6392,pathogenic,-0.030933447,neutral,-0.136383455,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y625G,NP_000240:p.Tyr625Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16613,3.99626,3.617508503105941,Destabilizing,Destabilizing,False,0.109,0.2363,1.14369,,-0.14253,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.5134,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9474,pathogenic,-0.009885497,neutral,-0.933636498,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625H,NP_000240:p.Tyr625His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.9167,1.29898,1.748828561973332,Neutral,Neutral,False,0.109,0.05372,0.78843,,0.01897,0.79242,,Uncertain,Neutral,Neutral,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,1463936,Uncertain significance,2,91.57,H,-0.2828,0.0893,-8.7647,loss_of_function,-3.80400463858836,0.5037007398529658,,,0.9779,pathogenic,-0.077180161,neutral,-0.632150363,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625I,NP_000240:p.Tyr625Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.78149,1.81565,1.6456209888868485,Uncertain,Uncertain,False,0.109,0.15618,0.77745,,-0.07874,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4549,0.0893,-22.0526,loss_of_function,-5.51392333883999,0.2926096178275221,,,0.9597,pathogenic,-0.070780251,neutral,-0.611757344,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625K,NP_000240:p.Tyr625Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86014,1.77585,2.541479529141451,Neutral,Uncertain,False,0.109,0.47414,1.04889,,-0.05181,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.5111,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9964,pathogenic,-0.116947362,destabilizing,-0.635532808,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625L,NP_000240:p.Tyr625Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1586,0.92211,1.1079423847430248,Neutral,Neutral,False,0.109,0.06306,0.66864,,0.01185,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.3642,0.0893,-8.7647,loss_of_function,-5.11287886878267,0.34211894663598597,,,0.9017,pathogenic,-0.003095569,neutral,-0.221950602,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y625M,NP_000240:p.Tyr625Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01268,1.80578,1.619801801022282,Neutral,Neutral,False,0.109,0.31008,0.20741,,-0.09927,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.3841,0.0893,-22.0526,loss_of_function,-5.51392333883999,0.2926096178275221,,,0.9806,pathogenic,-0.125379065,destabilizing,-0.396823303,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y625N,NP_000240:p.Tyr625Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68958,2.32619,2.3847360009192125,Uncertain,Uncertain,False,0.109,0.13582,1.23339,,-0.02898,0.63535,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4361,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9186,pathogenic,-0.080635087,neutral,-0.443465616,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y625P,NP_000240:p.Tyr625Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.34717,7.86599,6.532419325153636,Destabilizing,Destabilizing,False,0.109,0.70534,1.43997,,0.06717,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.5671,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9969,pathogenic,-0.228085075,destabilizing,-1.048358225,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625Q,NP_000240:p.Tyr625Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.80706,2.8551,2.2568641692774585,Uncertain,Uncertain,False,0.109,0.0174,1.07703,,-0.09438,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4606,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9966,pathogenic,-0.083020236,destabilizing,-0.669282734,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625R,NP_000240:p.Tyr625Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92516,2.9551,1.958361706932109,Uncertain,Neutral,False,0.109,0.38216,0.4862,,-0.07203,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.5064,0.0893,-22.0526,loss_of_function,-6.02450142218058,0.2295782582207144,,,0.9861,pathogenic,0.002952294,neutral,-0.800698521,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625S,NP_000240:p.Tyr625Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34324,3.37415,3.0127899925698114,Destabilizing,Destabilizing,False,0.109,0.2286,1.20842,,-0.08786,0.78056,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,2062749,Uncertain significance,2,91.57,H,-0.4476,0.0893,-22.0526,loss_of_function,-5.67597765972351,0.2726038547351952,,,0.8848,pathogenic,-0.013683931,neutral,-0.699396227,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625T,NP_000240:p.Tyr625Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61166,2.41088,2.431735351033329,Uncertain,Uncertain,False,0.109,0.17962,0.96495,,0.11341,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4662,0.0893,-22.0526,loss_of_function,-5.67597765972351,0.2726038547351952,,,0.966,pathogenic,-0.019223391,neutral,-0.649321059,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625V,NP_000240:p.Tyr625Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.16421,1.92653,1.86035424460527,Uncertain,Uncertain,False,0.109,0.17014,1.05217,,-0.20865,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,DOWN,-,neutral,neutral,,,,91.57,H,-0.4445,0.0893,-22.0526,loss_of_function,-4.99875921885527,0.356207128106123,,,0.9012,pathogenic,-0.054464981,neutral,-0.750256344,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y625W,NP_000240:p.Tyr625Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40861,0.80408,0.3772242833424161,Neutral,Neutral,False,0.109,-0.24894,-0.06212,,-0.0734,,,Uncertain,Neutral,Uncertain,33.3,,True,33.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,91.57,H,-0.3605,0.0893,-22.0526,loss_of_function,-3.80400463858836,0.5037007398529658,,,0.9647,pathogenic,-0.100869449,destabilizing,-0.504881287,neutral,https://doi.org/10.1101/2022.10.22.513328 +F626A,NP_000240:p.Phe626Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.88705,4.1602,4.79389260400398,Destabilizing,Destabilizing,False,0.157,0.02604,-0.05169,,0.01845,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4379,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9662,pathogenic,0.146930374,stabilizing,-1.006328078,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626C,NP_000240:p.Phe626Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.18221,3.5881,4.804271028958008,Destabilizing,Destabilizing,False,0.157,0.32242,-0.02903,,0.10151,0.19455,,,Neutral,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.406,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.7379,pathogenic,0.076641962,neutral,-0.797708123,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626D,NP_000240:p.Phe626Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.9656,4.4,5.598591443024392,Destabilizing,Destabilizing,False,0.157,-0.0257,-0.01053,,-0.00899,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.5609,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9963,pathogenic,-0.745936773,destabilizing,-1.03420704,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626E,NP_000240:p.Phe626Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.80741,4.16565,5.3404067125883055,Destabilizing,Destabilizing,False,0.157,-0.16464,-0.00441,,0.01159,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.5302,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9976,pathogenic,-0.685633349,destabilizing,-1.056643567,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626G,NP_000240:p.Phe626Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.38851,5.56327,6.846541437957283,Destabilizing,Destabilizing,False,0.157,0.0151,-0.03564,,-0.00702,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4732,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9791,pathogenic,-0.30380326,destabilizing,-1.013271956,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626H,NP_000240:p.Phe626His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.21217,2.09932,2.589339776102274,Uncertain,Uncertain,False,0.157,-0.01086,-0.03328,,-0.05235,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4655,0.1138,-22.0559,loss_of_function,-3.48648464479873,0.5428988910543658,,,0.9553,pathogenic,-0.074510155,neutral,-0.930002805,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626I,NP_000240:p.Phe626Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.4821,2.00272,3.308893500484771,Uncertain,Uncertain,False,0.157,0.04224,-0.00854,,-0.10234,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.3818,0.1138,-22.0559,loss_of_function,-4.66311415891566,0.3976428363035495,,,0.8058,pathogenic,-0.017068201,neutral,-0.38385251,neutral,https://doi.org/10.1101/2022.10.22.513328 +F626K,NP_000240:p.Phe626Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.95418,4.02789,6.137871529535335,Destabilizing,Destabilizing,False,0.157,0.22924,-0.05505,,-0.04743,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.5371,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9974,pathogenic,-0.710016149,destabilizing,-0.965179867,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626L,NP_000240:p.Phe626Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43593,1.08027,2.388004584076806,Neutral,Uncertain,False,0.157,0.00948,-0.00504,,0.1449,-0.09814,,,Neutral,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"1692278, 231139, 142962","Uncertain significance, Uncertain significance, Uncertain significance","1, 2, 2",92.56,H,-0.2761,0.1138,-8.768,loss_of_function,-3.23404825808404,0.5740624078366614,,,0.9509,pathogenic,-0.002561436,neutral,-0.33608371,neutral,https://doi.org/10.1101/2022.10.22.513328 +F626M,NP_000240:p.Phe626Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.30175,1.42653,2.537925453118109,Neutral,Uncertain,False,0.157,0.07664,-0.01794,,-0.00998,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.3749,0.1138,-22.0559,loss_of_function,-4.66311415891566,0.3976428363035495,,,0.9083,pathogenic,0.047356224,neutral,-0.443056125,neutral,https://doi.org/10.1101/2022.10.22.513328 +F626N,NP_000240:p.Phe626Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96926,3.47449,4.238300487767345,Destabilizing,Destabilizing,False,0.157,0.0151,-0.01689,,-0.02963,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4905,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9819,pathogenic,-0.43992286,destabilizing,-1.037521275,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626P,NP_000240:p.Phe626Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.43756,9.80782,8.923278922124345,Destabilizing,Destabilizing,False,0.157,0.13054,0.03417,,-0.09247,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.5612,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9993,pathogenic,0.075528793,neutral,-1.048038772,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626Q,NP_000240:p.Phe626Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.68307,3.05952,4.391526967588866,Destabilizing,Destabilizing,False,0.157,0.2453,-0.04114,,0.01922,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4926,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9931,pathogenic,-0.265976576,destabilizing,-1.011891424,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626R,NP_000240:p.Phe626Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.7985,3.99218,5.059703797478006,Uncertain,Uncertain,False,0.157,0.15992,-0.07262,,-0.03028,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.5385,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9909,pathogenic,-0.72258585,destabilizing,-1.033916727,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626S,NP_000240:p.Phe626Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.35442,4.66293,5.647440944142625,Destabilizing,Destabilizing,False,0.157,0.02334,-0.0515,,0.05046,-0.04483,,,Neutral,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,89915,Conflicting classifications of pathogenicity,1,92.56,H,-0.4169,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9443,pathogenic,-0.226376032,destabilizing,-0.874444684,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626T,NP_000240:p.Phe626Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.95665,3.21259,4.785316348304487,Destabilizing,Destabilizing,False,0.157,0.09356,-0.0323,,-0.0632,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.4632,0.1138,-22.0559,loss_of_function,-5.5192392364981,0.2919533651056484,,,0.9731,pathogenic,-0.013220353,neutral,-0.849164828,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626V,NP_000240:p.Phe626Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.45678,3.01395,3.6489016217519534,Destabilizing,Destabilizing,False,0.157,0.08298,-0.04277,,-0.01446,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.56,H,-0.3762,0.1138,-22.0559,loss_of_function,-3.5610551621427,0.5336930883610331,,,0.749,pathogenic,0.01603906,neutral,-0.692783385,damaging,https://doi.org/10.1101/2022.10.22.513328 +F626W,NP_000240:p.Phe626Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15755,0.85714,1.0447598612581914,Neutral,Neutral,False,0.157,0.00152,0.02044,,0.06651,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.56,H,-0.3614,0.1138,-22.0559,loss_of_function,-3.48648464479873,0.5428988910543658,,,0.8778,pathogenic,0.094347135,neutral,0.141410736,neutral,https://doi.org/10.1101/2022.10.22.513328 +F626Y,NP_000240:p.Phe626Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26995,-0.24354,0.8573938297807465,Neutral,Neutral,False,0.157,0.02026,0.00338,,0.0228,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.56,H,-0.2501,0.1138,-6.4462,loss_of_function,-0.528234352663035,0.9080977588760497,,,0.4138,ambiguous,-0.021307391,neutral,-0.083554455,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627A,NP_000240:p.Ser627Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08692,-0.53401,-0.6100533591863316,Neutral,Neutral,False,0.182,1.86658,0.0,,0.72857,-0.00026,,,Uncertain,Neutral,17.7,,True,17.7,,uncertain,,,-,-,uncertain,neutral,2713125,Uncertain significance,1,91.86,-,-0.118,0.7916,-4.6807,loss_of_function,-1.86628279328156,0.7429143810856351,,,0.1727,benign,0.062505437,neutral,-0.181893479,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627C,NP_000240:p.Ser627Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06052,-0.1432,-0.0193656741974823,Neutral,Neutral,False,0.182,1.49018,0.0,,0.70995,0.01579,,,Uncertain,Neutral,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,855584,Uncertain significance,1,91.86,-,-0.1762,0.7916,-6.1832,loss_of_function,-1.53293630433664,0.784066328464344,,,0.1489,benign,0.053318568,neutral,-0.165908467,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627D,NP_000240:p.Ser627Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19186,1.17993,0.081209558931925,Neutral,Neutral,False,0.182,1.825,0.0172,,0.02261,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.3054,0.7916,-22.0559,loss_of_function,-4.90095184722943,0.36828154299837473,,,0.9708,pathogenic,0.200411157,stabilizing,-1.044941159,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627E,NP_000240:p.Ser627Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44661,2.22687,0.2040873576114693,Uncertain,Neutral,False,0.182,1.56828,0.01604,,0.61695,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2786,0.7916,-22.0559,loss_of_function,-4.90095184722943,0.36828154299837473,,,0.9739,pathogenic,0.229616926,stabilizing,-0.374701551,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627F,NP_000240:p.Ser627Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.22165,-0.52925,-1.064853512459029,Neutral,Neutral,False,0.182,5.5265,0.00037,,0.62321,-0.04131,,,Uncertain,Neutral,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2848,0.7916,-22.0559,loss_of_function,-5.61130434284322,0.2805878384318227,,,0.7634,pathogenic,0.170944,stabilizing,-0.955856855,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627G,NP_000240:p.Ser627Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40211,-0.10884,0.1781108899753597,Neutral,Neutral,False,0.182,1.92834,2e-05,,0.92113,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,DOWN,-,neutral,neutral,,,,91.86,-,-0.1281,0.7916,-4.8613,loss_of_function,-3.11897779367384,0.5882679682769112,,,0.273,benign,-0.015898628,neutral,0.063880175,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627H,NP_000240:p.Ser627His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88415,-0.12109,-0.9364318546907874,Neutral,Neutral,False,0.182,9.67892,-0.00019,,0.84996,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.286,0.7916,-22.0559,loss_of_function,-5.61130434284322,0.2805878384318227,,,0.8761,pathogenic,0.122592683,stabilizing,-0.517891412,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627I,NP_000240:p.Ser627Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68787,4.47993,-0.1550812303365706,Uncertain,Uncertain,False,0.182,1.97268,7e-05,,1.19036,,,,Destabilizing,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2879,0.7916,-22.0559,loss_of_function,-5.13452445566374,0.33944677794109307,,,0.8597,pathogenic,-0.063300332,neutral,-0.985661779,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627K,NP_000240:p.Ser627Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.9811,-0.27959,-0.4936983235446479,Uncertain,Uncertain,False,0.182,3.96548,-0.06732,,0.58241,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2953,0.7916,-22.0559,loss_of_function,-4.78208037588075,0.38295634143184154,,,0.9924,pathogenic,0.087706834,neutral,-0.202283841,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627L,NP_000240:p.Ser627Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.89364,0.95068,-1.0632760138418056,Neutral,Neutral,False,0.182,1.46278,7e-05,,0.65973,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2163,0.7916,-8.768,loss_of_function,-5.13452445566374,0.33944677794109307,,,0.4246,ambiguous,0.138709348,stabilizing,-0.688909005,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627M,NP_000240:p.Ser627Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74913,0.33299,-0.7645115515139622,Neutral,Neutral,False,0.182,2.52212,0.01726,,1.09075,,,,Destabilizing,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2552,0.7916,-22.0559,loss_of_function,-3.95428939646079,0.48514794072985834,,,0.712,pathogenic,0.13228238,stabilizing,-0.126620163,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627N,NP_000240:p.Ser627Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37708,-0.70102,-0.9127704572924976,Neutral,Neutral,False,0.182,2.78984,4e-05,,1.29672,,,,Destabilizing,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.148,0.7916,-6.1832,loss_of_function,-3.59569942179623,0.5294162209047452,,,0.7877,pathogenic,0.081756755,neutral,-0.109131695,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627P,NP_000240:p.Ser627Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73562,2.56361,4.134420410178006,Uncertain,Destabilizing,False,0.182,2.27728,5e-05,,0.69066,-0.00796,,,Uncertain,Neutral,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,1781851,Uncertain significance,1,91.86,-,-0.3602,0.7916,-22.0559,loss_of_function,-5.61130434284322,0.2805878384318227,,,0.9511,pathogenic,0.628552557,stabilizing,-0.903941266,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627Q,NP_000240:p.Ser627Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84054,0.56633,-0.2863813042308072,Neutral,Neutral,False,0.182,2.41196,0.00888,,1.16559,,,,Destabilizing,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.1808,0.7916,-8.768,loss_of_function,-3.67487064891456,0.5196424561274606,,,0.9242,pathogenic,0.139610766,stabilizing,-0.116495145,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627R,NP_000240:p.Ser627Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.71347,0.11224,-0.9949525079714638,Uncertain,Uncertain,False,0.182,6.03454,-0.08573,,0.77955,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2328,0.7916,-8.768,loss_of_function,-3.66649161007252,0.5206768565994836,,,0.9739,pathogenic,0.010330384,neutral,-0.142680771,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627T,NP_000240:p.Ser627Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89903,1.57483,0.1044274994842109,Neutral,Neutral,False,0.182,1.4343,0.0,,0.74459,,,,Uncertain,,17.7,,True,17.7,,neutral,,,UP,-,neutral,neutral,,,,91.86,-,-0.1245,0.7916,-7.7681,loss_of_function,-2.14939566041467,0.7079638230420428,,,0.4257,ambiguous,0.025749275,neutral,-0.038309151,neutral,https://doi.org/10.1101/2022.10.22.513328 +S627V,NP_000240:p.Ser627Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54028,3.43435,-0.4149006513831121,Uncertain,Neutral,False,0.182,2.33252,0.0,,0.6229,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2622,0.7916,-22.0559,loss_of_function,-5.13452445566374,0.33944677794109307,,,0.7543,pathogenic,0.014359262,neutral,-0.933704176,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627W,NP_000240:p.Ser627Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58645,-0.64932,-1.1401930314559328,Neutral,Neutral,False,0.182,11.6933,0.0196,,1.25294,,,,Destabilizing,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2945,0.7916,-22.0559,loss_of_function,-5.61130434284322,0.2805878384318227,,,0.8857,pathogenic,-0.170358308,destabilizing,-1.060031509,damaging,https://doi.org/10.1101/2022.10.22.513328 +S627Y,NP_000240:p.Ser627Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.19848,-0.66973,-0.8202231051566666,Neutral,Neutral,False,0.182,9.5946,0.00016,,0.32428,,,,Uncertain,,17.7,,True,17.7,,uncertain,,,UP,-,neutral,neutral,,,,91.86,-,-0.2218,0.7916,-8.768,loss_of_function,-5.61130434284322,0.2805878384318227,,,0.725,pathogenic,0.219451972,stabilizing,-0.672586877,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628A,NP_000240:p.Leu628Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07082,3.81156,2.6418769157336586,Destabilizing,Uncertain,False,0.142,0.0473,,,-0.07143,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.2572,1.7538,-22.0559,loss_of_function,-3.46817657024723,0.5451590406150629,,,0.6004,pathogenic,-0.316565094,destabilizing,-0.983639036,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628C,NP_000240:p.Leu628Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.1174,3.0017,2.68346996032934,Destabilizing,Uncertain,False,0.142,0.005,,,-0.08148,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.2464,1.7538,-22.0559,loss_of_function,-3.46817657024723,0.5451590406150629,,,0.5961,pathogenic,0.029920163,neutral,-0.159664061,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628D,NP_000240:p.Leu628Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.09263,4.37585,3.809010801574121,Destabilizing,Destabilizing,False,0.142,-0.09104,,,0.03146,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.3787,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9926,pathogenic,-0.796658679,destabilizing,-1.028910046,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628E,NP_000240:p.Leu628Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.22575,2.93844,3.2622311915054225,Uncertain,Destabilizing,False,0.142,-0.0634,,,-0.05353,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.3468,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9509,pathogenic,-0.76751153,destabilizing,-0.966444044,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628F,NP_000240:p.Leu628Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59085,0.87245,0.0591786322353149,Neutral,Neutral,False,0.142,0.00936,,,0.18465,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.75,-,-0.0981,1.7538,-3.9102,loss_of_function,-1.53437571918438,0.7838886313052773,,,0.1439,benign,0.141725077,stabilizing,0.016462087,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628G,NP_000240:p.Leu628Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.20872,5.70374,4.599838344048697,Destabilizing,Destabilizing,False,0.142,0.05762,,,-0.00345,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.332,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9198,pathogenic,-0.730092932,destabilizing,-0.996023685,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628H,NP_000240:p.Leu628His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.19487,2.11701,1.808619097556948,Uncertain,Uncertain,False,0.142,0.0083,,,0.09503,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.2996,1.7538,-22.0559,loss_of_function,-3.01334379490284,0.6013085878814126,,,0.8797,pathogenic,-0.679737795,destabilizing,-1.028621454,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628I,NP_000240:p.Leu628Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28828,0.31667,0.2640950365819838,Neutral,Neutral,False,0.142,0.03608,,,-0.16404,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.75,-,-0.0327,1.7538,-2.7238,loss_of_function,-0.439026457502161,0.9191105600579222,,,0.0731,benign,-0.128352836,destabilizing,0.142744732,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628K,NP_000240:p.Leu628Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.23104,4.28435,3.7067576272009415,Destabilizing,Destabilizing,False,0.142,0.06882,,,-0.08129,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.75,-,-0.3458,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9485,pathogenic,-0.676372101,destabilizing,-1.101177145,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628M,NP_000240:p.Leu628Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24662,0.69388,0.5408702991327871,Neutral,Neutral,False,0.142,0.01218,,,0.0368,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.75,-,-0.0567,1.7538,-2.8613,loss_of_function,-0.348842634368477,0.9302438404946073,,,0.0848,benign,0.055755132,neutral,-0.087057118,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628N,NP_000240:p.Leu628Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.65244,3.04864,2.581757465045465,Destabilizing,Uncertain,False,0.142,0.00724,,,0.19029,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.325,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9526,pathogenic,-0.761828757,destabilizing,-1.04323467,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628P,NP_000240:p.Leu628Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.49161,9.81837,6.613146256097504,Destabilizing,Destabilizing,False,0.142,0.0549,,,-0.10996,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.3406,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9788,pathogenic,-0.766349141,destabilizing,-1.071035396,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628Q,NP_000240:p.Leu628Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30095,2.0619,2.229210943628244,Uncertain,Uncertain,False,0.142,0.01346,,,-0.00997,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.278,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.824,pathogenic,-0.787947574,destabilizing,-1.007245952,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628R,NP_000240:p.Leu628Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.748,4.95884,2.627348748073315,Destabilizing,Uncertain,False,0.142,0.17088,,,0.03009,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.75,-,-0.3374,1.7538,-22.0559,loss_of_function,-3.59965272745584,0.5289281814866875,,,0.9101,pathogenic,-0.75717865,destabilizing,-1.024206195,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628S,NP_000240:p.Leu628Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.14306,3.68401,3.5902490451287683,Destabilizing,Destabilizing,False,0.142,0.0559,,,-0.06866,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,844572,Uncertain significance,1,92.75,-,-0.2876,1.7538,-22.0559,loss_of_function,-3.46817657024723,0.5451590406150629,,,0.833,pathogenic,-0.752117469,destabilizing,-0.891266492,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628T,NP_000240:p.Leu628Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.36952,2.86327,2.304007740020109,Uncertain,Uncertain,False,0.142,0.01358,,,-0.08346,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.75,-,-0.2603,1.7538,-22.0559,loss_of_function,-3.46817657024723,0.5451590406150629,,,0.5885,pathogenic,-0.042770967,neutral,-0.41274767,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628V,NP_000240:p.Leu628Val,"hg19,3:g.37089160T>G",,,0.518,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92575,1.23265,0.5763858241799558,Neutral,Neutral,False,0.142,0.03172,,,-0.02485,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1781921,Uncertain significance,2,92.75,-,-0.0761,1.7538,-4.1243,loss_of_function,-0.0952717704863525,0.9615474095835715,,,0.0789,benign,-0.07146749,neutral,-0.16348282,neutral,https://doi.org/10.1101/2022.10.22.513328 +L628W,NP_000240:p.Leu628Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.63446,2.28878,0.8520965555058896,Uncertain,Uncertain,False,0.142,0.05306,,,0.05092,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.75,-,-0.2898,1.7538,-22.0559,loss_of_function,-3.01334379490284,0.6013085878814126,,,0.526,ambiguous,-0.17054446,destabilizing,-0.968757407,damaging,https://doi.org/10.1101/2022.10.22.513328 +L628Y,NP_000240:p.Leu628Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60029,1.9898,0.7004492741543996,Uncertain,Uncertain,False,0.142,0.06108,,,0.00342,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.75,-,-0.2827,1.7538,-22.0559,loss_of_function,-3.01334379490284,0.6013085878814126,,,0.7337,pathogenic,-0.064061884,neutral,-0.944194088,damaging,https://doi.org/10.1101/2022.10.22.513328 +E629A,NP_000240:p.Glu629Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38908,1.31837,1.0868163671700135,Neutral,Neutral,False,0.097,0.487,,,0.08042,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.0334,2.3193,-7.7681,loss_of_function,-3.11148967787343,0.5891923834353234,,,0.2327,benign,0.004141287,neutral,-0.211045236,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629C,NP_000240:p.Glu629Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.222,1.49014,1.464743072551005,Neutral,Neutral,False,0.097,0.34284,,,0.10297,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.0926,2.3193,-5.7682,loss_of_function,-2.31299276838949,0.6877676013869194,,,0.8073,pathogenic,0.051036201,neutral,-0.343252234,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629D,NP_000240:p.Glu629Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26722,0.76395,1.0908503517528514,Neutral,Neutral,False,0.097,0.16932,,,0.0325,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,420481,Uncertain significance,2,93.69,E,0.0192,2.3193,-4.1832,gain_of_function,-0.541906468016431,0.9064099229748546,,,0.268,benign,0.0369277,neutral,-0.096235023,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629F,NP_000240:p.Glu629Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.37464,0.63333,0.2158175394001055,Neutral,Neutral,False,0.097,0.3075,,,0.16784,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.0855,2.3193,-8.768,loss_of_function,-2.98860931130941,0.6043620838714199,,,0.8191,pathogenic,0.119866246,stabilizing,-0.066623357,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629G,NP_000240:p.Glu629Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32019,3.43776,1.9030739675722053,Uncertain,Neutral,False,0.097,0.52298,,,0.21599,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1781980,Uncertain significance,1,93.69,E,-0.0481,2.3193,-5.5982,loss_of_function,-1.83860429067642,0.7463313190780925,,,0.2666,benign,-0.042171994,neutral,-0.274416348,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629H,NP_000240:p.Glu629His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05487,1.33503,0.5990385070494486,Neutral,Neutral,False,0.097,0.49918,,,0.08985,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.0598,2.3193,-5.4462,loss_of_function,-2.62863816856941,0.6488008705848384,,,0.5503,ambiguous,0.044500838,neutral,-0.068209076,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629I,NP_000240:p.Glu629Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.72537,-0.22279,-0.2100621496987903,Neutral,Neutral,False,0.097,0.3529,,,0.12007,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.0908,2.3193,-8.768,loss_of_function,-2.86585304048135,0.6195164645685498,,,0.4266,ambiguous,0.060115563,neutral,-0.028644473,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629K,NP_000240:p.Glu629Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.77266,1.39388,1.010346912548058,Neutral,Neutral,False,0.097,0.49096,,,0.23406,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1781974,Uncertain significance,1,93.69,E,-0.0406,2.3193,-4.8613,loss_of_function,-1.47037345084674,0.7917897734084532,,,0.2418,benign,-0.09418049,destabilizing,0.037853767,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629L,NP_000240:p.Glu629Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.63493,0.32177,-0.2101893730978216,Neutral,Neutral,False,0.097,0.32618,,,0.11119,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.0849,2.3193,-7.1832,loss_of_function,-2.76988885044388,0.6313633369059838,,,0.4562,ambiguous,0.112705526,stabilizing,-0.066512351,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629M,NP_000240:p.Glu629Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.43432,0.72245,0.4228045067890434,Neutral,Neutral,False,0.097,0.26418,,,0.24795,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.1096,2.3193,-22.0559,loss_of_function,-3.99406893211261,0.4802371184707895,,,0.5204,ambiguous,0.089824179,neutral,-0.235614914,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629N,NP_000240:p.Glu629Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01306,1.49082,1.0117854347820892,Neutral,Neutral,False,0.097,0.4409,,,0.0321,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.0458,2.3193,-5.0677,loss_of_function,-1.48300630181311,0.7902302357038368,,,0.4275,ambiguous,0.008047086,neutral,-0.120859331,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629P,NP_000240:p.Glu629Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07742,2.95782,3.7537655527413287,Uncertain,Destabilizing,False,0.097,0.41952,,,0.17549,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.2633,2.3193,-22.0559,loss_of_function,-4.92286805969611,0.36557596531245395,,,0.9549,pathogenic,-0.13233932,destabilizing,-0.274225396,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629Q,NP_000240:p.Glu629Gln,"hg19,3:g.37089163G>C",,,0.597,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02614,0.53844,0.7645279479558661,Neutral,Neutral,False,0.097,0.39368,,,-0.01664,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,0.011,2.3193,-4.4463,gain_of_function,-1.00977612803877,0.8486509596503149,,,0.1605,benign,-0.059986058,neutral,0.018913718,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629R,NP_000240:p.Glu629Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.90293,1.55714,0.6456856204029982,Neutral,Neutral,False,0.097,0.58782,,,0.10553,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.1078,2.3193,-6.1832,loss_of_function,-2.67571495349191,0.6429891958255771,,,0.3568,ambiguous,-0.021926421,neutral,-0.201906307,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629S,NP_000240:p.Glu629Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88042,1.9034,1.4069434264417036,Neutral,Neutral,False,0.097,0.55448,,,0.01656,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.0283,2.3193,-4.1243,loss_of_function,-2.66667000902132,0.6441058029933178,,,0.318,benign,-0.011386816,neutral,-0.059654455,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629T,NP_000240:p.Glu629Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10489,1.40748,0.946791509551388,Neutral,Neutral,False,0.097,0.45262,,,0.19761,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.69,E,-0.049,2.3193,-5.0677,loss_of_function,-2.65789786728846,0.6451887323984896,,,0.3294,benign,0.077269263,neutral,-0.148022353,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629V,NP_000240:p.Glu629Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.90725,0.10442,0.1039954960972228,Neutral,Neutral,False,0.097,0.3963,,,0.17318,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.69,E,-0.0341,2.3193,-5.3087,loss_of_function,-2.31611249500138,0.6873824681108054,,,0.2444,benign,0.092788854,neutral,-0.025356266,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629W,NP_000240:p.Glu629Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7522,0.63231,-0.1265993228795359,Neutral,Neutral,False,0.097,0.37326,,,0.21107,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.1634,2.3193,-22.0559,loss_of_function,-4.11536412918078,0.4652631087464386,,,0.9311,pathogenic,0.136107352,stabilizing,-0.110558885,neutral,https://doi.org/10.1101/2022.10.22.513328 +E629Y,NP_000240:p.Glu629Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.2209,0.60102,0.3370180713785603,Neutral,Neutral,False,0.097,0.65076,,,-0.25024,,,Uncertain,Neutral,Uncertain,33.7,,False,33.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.69,E,-0.0761,2.3193,-6.7682,loss_of_function,-2.48384400982862,0.6666758499197188,,,0.7072,pathogenic,0.059083618,neutral,-0.098802509,neutral,https://doi.org/10.1101/2022.10.22.513328 +I630A,NP_000240:p.Ile630Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16709,3.82925,3.5766460921442405,Destabilizing,Destabilizing,False,0.134,0.0,,,-0.00326,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.3508,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.6483,pathogenic,-0.714009706,destabilizing,-0.846754402,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630C,NP_000240:p.Ile630Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.48269,3.53571,3.2786944030049363,Destabilizing,Destabilizing,False,0.134,0.0,,,-0.0018,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.3308,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.8907,pathogenic,-0.208539791,destabilizing,-0.691793016,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630D,NP_000240:p.Ile630Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.4511,4.88741,4.575153355698882,Destabilizing,Destabilizing,False,0.134,-0.05938,,,0.06028,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4749,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9887,pathogenic,-0.709257954,destabilizing,-0.978050658,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630E,NP_000240:p.Ile630Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.48561,3.66531,4.038769555755276,Destabilizing,Destabilizing,False,0.134,-0.06326,,,-0.1666,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4558,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9716,pathogenic,-0.749940368,destabilizing,-1.067652964,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630F,NP_000240:p.Ile630Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.79111,-0.06769,0.8350124508235468,Uncertain,Uncertain,False,0.134,-0.02218,,,-0.05237,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.25,E,-0.227,0.8101,-5.4462,loss_of_function,-2.8849635861314,0.6171572491724061,,,0.2384,benign,0.018358427,neutral,-0.11926471,neutral,https://doi.org/10.1101/2022.10.22.513328 +I630G,NP_000240:p.Ile630Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.66825,5.73367,5.556834217924258,Destabilizing,Destabilizing,False,0.134,0.0,,,0.04939,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4415,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9384,pathogenic,-0.780452632,destabilizing,-1.065896652,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630H,NP_000240:p.Ile630His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.72373,2.29286,2.694749532542825,Uncertain,Uncertain,False,0.134,-0.00102,,,-0.03557,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4414,0.8101,-22.0559,loss_of_function,-4.17946379320305,0.45734994305152943,,,0.9742,pathogenic,-0.73838604,destabilizing,-1.049304885,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630K,NP_000240:p.Ile630Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.40808,5.30238,4.4400227048643925,Destabilizing,Destabilizing,False,0.134,0.0332,,,0.0672,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.25,E,-0.4483,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9641,pathogenic,-0.773739148,destabilizing,-0.997533231,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630L,NP_000240:p.Ile630Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09645,0.34354,0.8129372626115763,Neutral,Neutral,False,0.134,0.0,,,0.03226,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.25,E,-0.1506,0.8101,-5.3087,loss_of_function,-1.5500239209222,0.781956845623285,,,0.1995,benign,0.018338619,neutral,-0.056206148,neutral,https://doi.org/10.1101/2022.10.22.513328 +I630M,NP_000240:p.Ile630Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23356,1.10816,1.6064199820942384,Neutral,Neutral,False,0.134,0.0,,,-0.02894,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,489893,Uncertain significance,2,93.25,E,-0.1607,0.8101,-6.1832,loss_of_function,-1.55750284332946,0.7810335653981741,,,0.0994,benign,0.030578281,neutral,-0.048963144,neutral,https://doi.org/10.1101/2022.10.22.513328 +I630N,NP_000240:p.Ile630Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.38602,3.54592,3.312205959239014,Destabilizing,Destabilizing,False,0.134,0.0,,,0.04064,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,619511,Uncertain significance,1,93.25,E,-0.3879,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9028,pathogenic,-0.700136197,destabilizing,-1.024691423,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630P,NP_000240:p.Ile630Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.25075,4.5119,5.884181178012786,Destabilizing,Destabilizing,False,0.134,0.0,,,0.15095,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4949,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9767,pathogenic,-0.792736578,destabilizing,-0.989775913,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630Q,NP_000240:p.Ile630Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.51584,2.76633,2.966800022965575,Uncertain,Uncertain,False,0.134,0.0,,,-0.1044,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.4155,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9651,pathogenic,-0.294008734,destabilizing,-0.776338162,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630R,NP_000240:p.Ile630Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.01355,4.68265,3.631520348213451,Destabilizing,Destabilizing,False,0.134,0.10834,,,-0.12648,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.25,E,-0.4751,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.9424,pathogenic,-0.779354379,destabilizing,-0.998960031,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630S,NP_000240:p.Ile630Ser,"hg19,3:g.37089167T>G, hg38,3:g.37047676T>G",,,0.985,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.97858,4.36395,4.40389854806784,Destabilizing,Destabilizing,False,0.134,0.0,,,-0.01927,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.25,E,-0.3914,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.8262,pathogenic,-0.651983866,destabilizing,-1.041944767,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630T,NP_000240:p.Ile630Thr,"hg19,3:g.37089167T>C, hg38,3:g.37047676T>C",,,0.964,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.06946,3.04864,2.989085180108696,Destabilizing,Uncertain,False,0.134,0.0,,,0.08088,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1782030,Uncertain significance,2,93.25,E,-0.3082,0.8101,-22.0559,loss_of_function,-5.14367418747898,0.3383172346740205,,,0.4736,ambiguous,-0.209386185,destabilizing,-0.68044903,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630V,NP_000240:p.Ile630Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.81564,1.09966,1.075267732467178,Neutral,Neutral,False,0.134,0.0,,,-0.03076,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1352517,Uncertain significance,1,93.25,E,-0.1026,0.8101,-3.7238,loss_of_function,-0.584125037156389,0.9011979996660148,,,0.1106,benign,-0.067670509,neutral,-0.184689699,neutral,https://doi.org/10.1101/2022.10.22.513328 +I630W,NP_000240:p.Ile630Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39886,3.2585,1.96884592921648,Uncertain,Uncertain,False,0.134,0.14874,,,-0.1005,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.25,E,-0.4007,0.8101,-22.0559,loss_of_function,-4.17946379320305,0.45734994305152943,,,0.9111,pathogenic,-0.306283288,destabilizing,-0.892034049,damaging,https://doi.org/10.1101/2022.10.22.513328 +I630Y,NP_000240:p.Ile630Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.92125,0.71088,1.717032223209107,Uncertain,Uncertain,False,0.134,0.057,,,-0.18188,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.25,E,-0.4096,0.8101,-22.0559,loss_of_function,-4.17946379320305,0.45734994305152943,,,0.8423,pathogenic,-0.686098522,destabilizing,-1.039037973,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631A,NP_000240:p.Asp631Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88991,2.14592,1.3647783728818113,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.43,-,-0.1127,1.8163,-8.7447,loss_of_function,-3.83724284898117,0.49959745054166493,,,0.3211,benign,-0.191876846,destabilizing,-0.494473393,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631C,NP_000240:p.Asp631Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70421,2.47585,1.8494643393246653,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.43,-,-0.222,1.8163,-22.0326,loss_of_function,-3.83724284898117,0.49959745054166493,,,0.6763,pathogenic,0.030753611,neutral,-0.11680106,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631E,NP_000240:p.Asp631Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.00592,3.48503,1.3149696566148907,Destabilizing,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.0495,1.8163,-7.1598,loss_of_function,-0.498108337897607,0.9118168446185786,,,0.4303,ambiguous,-0.037796318,neutral,-0.310331896,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631F,NP_000240:p.Asp631Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70005,3.59354,1.3929697591288184,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2807,1.8163,-22.0326,loss_of_function,-4.80043251936411,0.3806907515187631,,,0.8364,pathogenic,-0.602790955,destabilizing,-1.051303163,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631G,NP_000240:p.Asp631Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.00003,3.06156,1.7999694123824508,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.43,-,-0.1188,1.8163,-7.7448,loss_of_function,-2.89275570619412,0.6161953043929529,,,0.2012,benign,-0.076491534,neutral,-0.445491118,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631H,NP_000240:p.Asp631His,"hg19,3:g.37089169G>C, hg38,3:g.37047678G>C",,,0.840,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.6005,1.95952,1.0814887334242014,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.1898,1.8163,-22.0326,loss_of_function,-3.69206695151072,0.5175195558929768,,,0.5521,ambiguous,-0.427512419,destabilizing,-0.689878227,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631I,NP_000240:p.Asp631Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.76244,3.32925,1.7763823738849926,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.197,1.8163,-7.1598,loss_of_function,-2.9845812904266,0.6048593469562491,,,0.711,pathogenic,-0.197566407,destabilizing,-0.977982671,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631K,NP_000240:p.Asp631Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78091,3.77109,1.578540961067227,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.1783,1.8163,-7.7448,loss_of_function,-3.32331377186589,0.5630424935801441,,,0.7254,pathogenic,-0.677163455,destabilizing,-1.060873384,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631L,NP_000240:p.Asp631Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49957,3.79388,1.1386989898235793,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.1987,1.8163,-8.7447,loss_of_function,-4.14481474888405,0.4616274011794104,,,0.6211,pathogenic,-0.405275798,destabilizing,-1.02880398,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631M,NP_000240:p.Asp631Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63462,3.01599,1.4108962096438489,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2053,1.8163,-22.0326,loss_of_function,-4.14481474888405,0.4616274011794104,,,0.7851,pathogenic,-0.461249402,destabilizing,-1.010530568,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631N,NP_000240:p.Asp631Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80147,1.16735,0.7987616679244954,Neutral,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.43,-,-0.0544,1.8163,-3.8379,loss_of_function,-1.44466463767565,0.7949635513298416,,,0.0926,benign,-0.031190782,neutral,-0.024107867,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631P,NP_000240:p.Asp631Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25263,5.70952,5.27243312934692,Destabilizing,Destabilizing,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.43,-,-0.3175,1.8163,-22.0326,loss_of_function,-4.98331247148305,0.3581140440512879,,,0.9121,pathogenic,-0.733256274,destabilizing,-1.036825204,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631Q,NP_000240:p.Asp631Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42978,3.16259,1.418957804261108,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2075,1.8163,-22.0326,loss_of_function,-1.97548308531916,0.7294334991183632,,,0.6525,pathogenic,-0.295306079,destabilizing,-0.669377983,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631R,NP_000240:p.Asp631Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16526,4.24898,1.398672430121462,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2823,1.8163,-22.0326,loss_of_function,-3.36617247335998,0.5577515453113115,,,0.7011,pathogenic,-0.687230141,destabilizing,-0.993358724,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631S,NP_000240:p.Asp631Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.22437,1.26395,1.350810194461194,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.43,-,-0.0854,1.8163,-2.1301,loss_of_function,-2.19981327793683,0.7017397192580229,,,0.1214,benign,-0.091615797,destabilizing,-0.186649436,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631T,NP_000240:p.Asp631Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.51359,1.87381,1.4556546446395386,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.43,-,-0.1205,1.8163,-3.1301,loss_of_function,-2.03883207430729,0.7216130049845111,,,0.303,benign,-0.09081952,destabilizing,-0.197668637,neutral,https://doi.org/10.1101/2022.10.22.513328 +D631V,NP_000240:p.Asp631Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88731,3.37177,1.7387566876482212,Uncertain,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,820291,Uncertain significance,2,91.43,-,-0.1598,1.8163,-8.7447,loss_of_function,-3.00020805224941,0.6029302080525599,,,0.4926,ambiguous,-0.224712211,destabilizing,-0.739315066,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631W,NP_000240:p.Asp631Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.10991,3.12415,1.181178887934032,Destabilizing,Uncertain,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2611,1.8163,-22.0326,loss_of_function,-4.80043251936411,0.3806907515187631,,,0.9557,pathogenic,-0.807626704,destabilizing,-1.045929173,damaging,https://doi.org/10.1101/2022.10.22.513328 +D631Y,NP_000240:p.Asp631Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.84085,2.85068,1.5527407468660372,Uncertain,Neutral,False,0.078,,,,,,,Uncertain,Uncertain,Uncertain,29.7,,False,29.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.43,-,-0.2255,1.8163,-22.0326,loss_of_function,-4.80043251936411,0.3806907515187631,,,0.4481,ambiguous,-0.761748657,destabilizing,-0.903066259,damaging,https://doi.org/10.1101/2022.10.22.513328 +E632A,NP_000240:p.Glu632Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03472,0.32449,0.6381958775468018,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,0.0137,2.6057,-3.6971,gain_of_function,-0.973065396263891,0.85318293509429,,,0.104,benign,-0.066794757,neutral,-0.06670403,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632C,NP_000240:p.Glu632Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39489,1.37653,1.3127967378674048,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,-0.1492,2.6057,-22.0292,loss_of_function,-2.93118893636021,0.6114506848519021,,,0.4881,ambiguous,0.020164377,neutral,-0.172237456,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632D,NP_000240:p.Glu632Asp,"hg19,3:g.37089174G>C",,,0.456,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54946,0.08912,0.3474204801158415,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"1782160, 1782159","Likely pathogenic, Likely pathogenic","2, 2",89.08,S,0.0476,2.6057,-3.7873,gain_of_function,-0.678107952045174,0.8895957176673583,,,0.0948,benign,-0.053416047,neutral,-0.041139282,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632F,NP_000240:p.Glu632Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19122,0.85,0.484752481536676,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.1268,2.6057,-22.0292,loss_of_function,-3.74570435883912,0.5108979659344475,,,0.5466,ambiguous,0.121169249,stabilizing,-0.079169059,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632G,NP_000240:p.Glu632Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41346,0.91939,1.120004078676334,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,419094,Uncertain significance,2,89.08,S,-0.0201,2.6057,-5.282,loss_of_function,-0.802470440101351,0.87424304789552,,,0.068,benign,-0.067968669,neutral,-0.012690469,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632H,NP_000240:p.Glu632His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11953,0.73299,0.2746385841399484,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.0503,2.6057,-8.7413,loss_of_function,-3.74570435883912,0.5108979659344475,,,0.2334,benign,-0.013617432,neutral,-0.054694627,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632I,NP_000240:p.Glu632Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08338,0.68299,0.4222573827437759,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.0592,2.6057,-7.7414,loss_of_function,-2.40627578877343,0.6762517220437257,,,0.266,benign,-0.006015483,neutral,0.029572151,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632K,NP_000240:p.Glu632Lys,"hg19,3:g.37089172G>A",,,0.619,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42704,0.22653,0.5364164024119672,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,2676577,Uncertain significance,1,89.08,S,-0.0123,2.6057,-4.4935,loss_of_function,-0.63918824496722,0.8944003932550211,,,0.074,benign,-0.196005761,destabilizing,-0.037690727,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632L,NP_000240:p.Glu632Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05692,0.48469,0.1980804887762111,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.1343,2.6057,-22.0292,loss_of_function,-3.34157773908331,0.5607877891126196,,,0.2521,benign,-0.019506329,neutral,0.060172688,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632M,NP_000240:p.Glu632Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04365,0.81497,0.594695228559193,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.0153,2.6057,-8.7413,loss_of_function,-0.923152470268525,0.8593447342198183,,,0.2945,benign,-0.04252579,neutral,-0.092263002,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632N,NP_000240:p.Glu632Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22714,0.3102,0.6405557471836587,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,-0.025,2.6057,-6.1565,loss_of_function,-1.57700717063687,0.7786257372744939,,,0.1484,benign,-0.053323794,neutral,-0.146463131,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632P,NP_000240:p.Glu632Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.39834,0.46769,1.437638292148946,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,-0.1413,2.6057,-3.3152,loss_of_function,-1.93638889788631,0.7342597144750693,,,0.2858,benign,0.035175372,neutral,-0.110205861,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632Q,NP_000240:p.Glu632Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02413,0.41259,0.6935197060054293,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,0.0432,2.6057,-3.3152,gain_of_function,-0.0741395927658378,0.9641561974196294,,,0.0921,benign,-0.037104663,neutral,-0.126831843,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632R,NP_000240:p.Glu632Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48033,0.63673,0.4767196835213771,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.0945,2.6057,-8.7413,loss_of_function,-2.25595206078353,0.6948093320656326,,,0.1171,benign,-0.106583364,destabilizing,-0.11985046,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632S,NP_000240:p.Glu632Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0897,0.37619,0.5525044127481468,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,-0.0018,2.6057,-4.0976,loss_of_function,-1.2444850459738,0.8196759160830434,,,0.111,benign,-0.098532743,destabilizing,-0.014657195,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632T,NP_000240:p.Glu632Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41182,0.47993,0.6054275958181057,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.08,S,-0.0311,2.6057,-6.7414,loss_of_function,-0.89346807665775,0.8630093014024692,,,0.1321,benign,-0.079728439,neutral,-0.139770234,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632V,NP_000240:p.Glu632Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34794,0.65816,0.5236498449871493,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.08,S,-0.0171,2.6057,-7.1565,loss_of_function,-2.33385088364215,0.6851926468283359,,,0.1601,benign,0.023392363,neutral,-0.126739362,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632W,NP_000240:p.Glu632Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08491,0.77211,0.0847133046882409,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.1369,2.6057,-22.0292,loss_of_function,-3.09213076694724,0.5915822597657002,,,0.6442,pathogenic,0.233872345,stabilizing,0.056714897,neutral,https://doi.org/10.1101/2022.10.22.513328 +E632Y,NP_000240:p.Glu632Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13758,0.63367,0.5354447711253926,Neutral,Neutral,False,0.033,,,,,,,Uncertain,Uncertain,Uncertain,111.9,,False,111.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.08,S,-0.1276,2.6057,-22.0292,loss_of_function,-3.74570435883912,0.5108979659344475,,,0.3911,ambiguous,0.12754887,stabilizing,0.02267062,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633A,NP_000240:p.Glu633Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10453,0.13946,0.2519906658160503,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.01,2.405,-4.7279,loss_of_function,-1.52353274247411,0.7852272072969487,,,0.1027,benign,-0.035000299,neutral,-0.142097425,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633C,NP_000240:p.Glu633Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28681,1.1483,0.8222553905557833,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.0998,2.405,-8.7278,loss_of_function,-2.20393263439607,0.7012311807076955,,,0.5503,ambiguous,0.033401392,neutral,0.047345966,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633D,NP_000240:p.Glu633Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4199,0.23265,0.1239125679566843,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,0.0372,2.405,-2.2044,gain_of_function,-0.214030529471342,0.946886525600724,,,0.0818,benign,0.044704436,neutral,-0.005052755,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633F,NP_000240:p.Glu633Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.88879,0.16837,-0.0132008446867176,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.1452,2.405,-22.0156,loss_of_function,-3.09799446526035,0.5908583805216456,,,0.4803,ambiguous,0.11861649,stabilizing,0.047018634,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633G,NP_000240:p.Glu633Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30703,1.0051,0.8669666639651769,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.0511,2.405,-7.7279,loss_of_function,-1.17838459692389,0.8278360806302103,,,0.0959,benign,-0.04571248,neutral,-0.005970503,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633H,NP_000240:p.Glu633His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14083,0.27959,-0.0885057607227984,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.0555,2.405,-6.1429,loss_of_function,-1.3179556972644,0.810605892920778,,,0.2658,benign,-0.017455738,neutral,-0.06220958,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633I,NP_000240:p.Glu633Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24908,0.04524,-0.2242688977798101,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.1505,2.405,-22.0156,loss_of_function,-2.18917816457788,0.7030526343173635,,,0.23,benign,0.008224887,neutral,0.094453816,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633K,NP_000240:p.Glu633Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.57098,0.26395,0.0387254856021312,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,1782185,Uncertain significance,2,88.64,S,-0.0307,2.405,-4.48,loss_of_function,-0.903170427456708,0.861811536785862,,,0.0928,benign,-0.098032083,destabilizing,-0.043371376,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633L,NP_000240:p.Glu633Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30584,0.25918,-0.3486619332800827,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.1527,2.405,-22.0156,loss_of_function,-2.83121120977886,0.6237930321684758,,,0.2542,benign,0.040740477,neutral,-0.086005436,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633M,NP_000240:p.Glu633Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49366,0.79932,-0.0053251683593202,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.0286,2.405,-7.7279,loss_of_function,-0.920556203981277,0.8596652458111421,,,0.276,benign,0.022570827,neutral,-0.193149279,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633N,NP_000240:p.Glu633Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18595,0.2949,0.0444036749646969,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.0329,2.405,-4.0841,loss_of_function,-0.36547332499668,0.9281907656061645,,,0.1298,benign,-0.011390307,neutral,0.022498139,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633P,NP_000240:p.Glu633Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05407,4.53776,3.648317309570177,Uncertain,Uncertain,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.2552,2.405,-22.0156,loss_of_function,-3.45471871378517,0.5468204260483095,,,0.6239,pathogenic,-0.03830646,neutral,-0.12571861,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633Q,NP_000240:p.Glu633Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28529,0.01156,0.1843098632228407,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,0.017,2.405,-4.821,gain_of_function,-0.501241045448791,0.9114301088329183,,,0.1101,benign,0.001742001,neutral,0.010461031,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633R,NP_000240:p.Glu633Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72061,0.57789,-0.1135148258287571,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.1129,2.405,-8.7278,loss_of_function,-1.89630341625415,0.7392083060621534,,,0.168,benign,0.002757835,neutral,-0.107093367,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633S,NP_000240:p.Glu633Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43927,0.44728,0.4010630440262913,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.023,2.405,-4.6405,loss_of_function,-0.850630092421268,0.8682976921057562,,,0.1239,benign,-0.009007665,neutral,-0.164980071,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633T,NP_000240:p.Glu633Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51473,0.21735,0.2126887427497253,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.64,S,-0.0385,2.405,-4.558,loss_of_function,-1.88963789321629,0.740031171346182,,,0.1377,benign,-0.008919123,neutral,-0.022559262,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633V,NP_000240:p.Glu633Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18087,0.02891,-0.0707166970467737,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.64,S,-0.0355,2.405,-7.1429,loss_of_function,-0.864288995409644,0.8666114872838377,,,0.1444,benign,0.005380577,neutral,0.058047837,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633W,NP_000240:p.Glu633Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06125,-0.62551,-0.3262436708111421,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.1553,2.405,-22.0156,loss_of_function,-3.09799446526035,0.5908583805216456,,,0.6763,pathogenic,0.143902108,stabilizing,-0.125417958,neutral,https://doi.org/10.1101/2022.10.22.513328 +E633Y,NP_000240:p.Glu633Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.75281,0.03878,0.0723839305634416,Neutral,Neutral,False,0.029,,,,,,,Uncertain,Uncertain,Uncertain,90.9,,False,90.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.64,S,-0.146,2.405,-22.0156,loss_of_function,-3.09799446526035,0.5908583805216456,,,0.318,benign,0.1604398,stabilizing,0.045052204,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634A,NP_000240:p.Gly634Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.10105,1.35816,1.5676200126604871,Uncertain,Uncertain,False,0.032,-0.00024,,,-0.03869,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.2421,0.6609,-6.406,loss_of_function,-2.25599681092967,0.6948038076166877,,,0.3457,ambiguous,-0.044549397,neutral,-0.090681971,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634C,NP_000240:p.Gly634Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.99971,1.84558,2.6471693495582307,Uncertain,Uncertain,False,0.032,0.00168,,,0.19619,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3136,0.6609,-8.7278,loss_of_function,-3.02136375956407,0.6003185154652829,,,0.436,ambiguous,0.030796438,neutral,-0.050611418,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634D,NP_000240:p.Gly634Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.3435,3.58503,3.2909010226545607,Destabilizing,Destabilizing,False,0.032,-0.00084,,,-0.0899,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3142,0.6609,-8.7278,loss_of_function,-2.43169018058021,0.6731142907253257,,,0.6278,pathogenic,0.076889861,neutral,-0.011006481,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634E,NP_000240:p.Gly634Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.02451,3.41463,3.1827433365619027,Destabilizing,Destabilizing,False,0.032,0.00638,,,-0.13783,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3135,0.6609,-8.7278,loss_of_function,-1.08921273547911,0.8388444334148812,,,0.5337,ambiguous,-0.006304768,neutral,-0.084094246,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634F,NP_000240:p.Gly634Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.55388,1.68265,1.2945156514612484,Uncertain,Uncertain,False,0.032,0.02842,,,0.00257,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.4196,0.6609,-22.0156,loss_of_function,-4.09222975502497,0.46811906967439837,,,0.9184,pathogenic,-0.009509853,neutral,-0.487130534,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634H,NP_000240:p.Gly634His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.96993,2.33503,2.2383479987199504,Uncertain,Uncertain,False,0.032,0.01086,,,-0.17209,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3943,0.6609,-22.0156,loss_of_function,-2.99003059128758,0.6041866254795912,,,0.8179,pathogenic,-0.031836421,neutral,-0.430552717,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634I,NP_000240:p.Gly634Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.62367,7.74524,2.8198242340946247,Destabilizing,Uncertain,False,0.032,0.00354,,,-0.25855,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3923,0.6609,-7.7279,loss_of_function,-4.09222975502497,0.46811906967439837,,,0.883,pathogenic,-0.391598801,destabilizing,-0.812268253,damaging,https://doi.org/10.1101/2022.10.22.513328 +G634K,NP_000240:p.Gly634Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.04431,3.46327,3.36944241263343,Destabilizing,Destabilizing,False,0.032,0.01166,,,-0.0603,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3383,0.6609,-7.1429,loss_of_function,-2.69841290421005,0.6401871117942923,,,0.8035,pathogenic,-0.237189475,destabilizing,-0.39033578,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634L,NP_000240:p.Gly634Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.58887,3.01905,1.885902949253934,Destabilizing,Uncertain,False,0.032,0.00668,,,0.09171,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3657,0.6609,-8.7278,loss_of_function,-4.09222975502497,0.46811906967439837,,,0.8636,pathogenic,-0.048417743,neutral,-0.088355157,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634M,NP_000240:p.Gly634Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.38619,2.76463,2.125006040957647,Uncertain,Uncertain,False,0.032,0.00432,,,-0.01357,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3717,0.6609,-22.0156,loss_of_function,-3.54807744416655,0.5352952002324994,,,0.8349,pathogenic,0.023541981,neutral,0.040480759,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634N,NP_000240:p.Gly634Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.21927,2.00646,2.2659949764095875,Uncertain,Uncertain,False,0.032,-0.00016,,,0.0036,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3064,0.6609,-7.1429,loss_of_function,-2.58542294008455,0.6541358324564832,,,0.5756,pathogenic,-0.034887954,neutral,0.102321626,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634P,NP_000240:p.Gly634Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.39426,22.60918,6.5252391701722585,Destabilizing,Destabilizing,False,0.032,0.00144,,,0.123,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.4065,0.6609,-7.7279,loss_of_function,-3.31619860099244,0.5639208683255975,,,0.9897,pathogenic,-0.529385467,destabilizing,-0.973106956,damaging,https://doi.org/10.1101/2022.10.22.513328 +G634Q,NP_000240:p.Gly634Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.45315,2.58605,2.7374045166025307,Uncertain,Uncertain,False,0.032,0.02524,,,-0.04454,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3093,0.6609,-7.1429,loss_of_function,-1.18588064015424,0.8269106868228832,,,0.6749,pathogenic,-0.106268689,destabilizing,0.02001965,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634R,NP_000240:p.Gly634Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.48089,2.29932,2.442042785009564,Uncertain,Uncertain,False,0.032,0.03524,,,-0.02791,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3186,0.6609,-6.406,loss_of_function,-2.3357880974571,0.6849534959039435,,,0.7044,pathogenic,-0.151326271,destabilizing,-0.239216075,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634S,NP_000240:p.Gly634Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.16917,3.72177,2.36045163091343,Destabilizing,Uncertain,False,0.032,0.00308,,,-0.15611,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.2598,0.6609,-8.7278,loss_of_function,-2.64204318462389,0.6471460083511585,,,0.2517,benign,-0.072078899,neutral,-0.125901735,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634T,NP_000240:p.Gly634Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.62402,4.00952,2.809242674751243,Destabilizing,Uncertain,False,0.032,0.00158,,,-0.08962,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3367,0.6609,-8.7278,loss_of_function,-2.78615399325352,0.6293553892502938,,,0.6099,pathogenic,-0.058400737,neutral,-0.366524207,neutral,https://doi.org/10.1101/2022.10.22.513328 +G634V,NP_000240:p.Gly634Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.55329,5.61259,2.392452518880499,Destabilizing,Uncertain,False,0.032,0.00296,,,0.07087,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,185711,Uncertain significance,2,89.49,S,-0.3356,0.6609,-7.7279,loss_of_function,-3.04740139668888,0.5971041439078757,,,0.7677,pathogenic,-0.208594402,destabilizing,-0.600550443,damaging,https://doi.org/10.1101/2022.10.22.513328 +G634W,NP_000240:p.Gly634Trp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.45951,3.10748,0.9058299438432462,Destabilizing,Uncertain,False,0.032,0.00178,,,0.04416,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,1782308,Uncertain significance,1,89.49,S,-0.4193,0.6609,-22.0156,loss_of_function,-4.09222975502497,0.46811906967439837,,,0.7741,pathogenic,-0.078394326,neutral,-0.523020279,damaging,https://doi.org/10.1101/2022.10.22.513328 +G634Y,NP_000240:p.Gly634Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.6694,1.42279,1.7608691452841023,Uncertain,Uncertain,False,0.032,0.00688,,,0.05324,,,,Neutral,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.49,S,-0.3521,0.6609,-8.7278,loss_of_function,-2.82882188376728,0.6240879967820537,,,0.7818,pathogenic,0.028759754,neutral,-0.414939325,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635A,NP_000240:p.Asn635Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41889,0.74694,0.818134760062151,Neutral,Neutral,False,0.027,0.03632,,,0.09894,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,E,-0.0036,2.6743,-6.7211,loss_of_function,-1.83823272434488,0.7463771893021097,,,0.3646,ambiguous,0.031107717,neutral,-0.049196713,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635C,NP_000240:p.Asn635Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59694,1.04286,1.190490125826487,Neutral,Neutral,False,0.027,0.01126,,,-0.00785,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,E,-0.0556,2.6743,-7.1361,loss_of_function,-1.16536128011576,0.8294438217217116,,,0.1625,benign,0.051162348,neutral,-0.124444461,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635D,NP_000240:p.Asn635Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.77207,1.80068,1.3046247133541122,Uncertain,Uncertain,False,0.027,-0.04622,,,0.02805,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,0.0046,2.6743,-4.4732,gain_of_function,-1.02251953023325,0.8470777742893627,,,0.1945,benign,0.172161825,stabilizing,-0.067982863,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635E,NP_000240:p.Asn635Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53984,1.47279,1.144865689478879,Uncertain,Uncertain,False,0.027,-0.10804,,,-0.0766,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.012,2.6743,-2.4173,loss_of_function,-1.01683013281029,0.847780135919471,,,0.3899,ambiguous,0.098170887,neutral,-0.127653565,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635F,NP_000240:p.Asn635Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19063,0.58435,-0.3640819935655343,Neutral,Neutral,False,0.027,0.0866,,,0.17058,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0629,2.6743,-7.1361,loss_of_function,-2.0479403032056,0.7204885852927879,,,0.4302,ambiguous,0.102011767,neutral,-0.106814756,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635G,NP_000240:p.Asn635Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40383,2.51803,1.800541123582463,Uncertain,Uncertain,False,0.027,-0.01536,,,0.05848,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,E,-0.1124,2.6743,-22.0088,loss_of_function,-3.30197147098373,0.5656772213243093,,,0.3996,ambiguous,0.160667986,stabilizing,-0.20112806,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635H,NP_000240:p.Asn635His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18478,0.58367,0.2136197387335703,Neutral,Neutral,False,0.027,0.10094,,,0.10983,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0005,2.6743,-5.1361,loss_of_function,-1.04495142423594,0.8443085352176531,,,0.0898,benign,-0.019671069,neutral,0.022678803,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635I,NP_000240:p.Asn635Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.33829,0.60918,0.2032966592380597,Uncertain,Uncertain,False,0.027,0.03198,,,-0.0495,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.059,2.6743,-7.721,loss_of_function,-1.97068440979272,0.7300259002664197,,,0.2604,benign,0.021883411,neutral,-0.010755533,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635K,NP_000240:p.Asn635Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30798,0.63605,0.6070363681655611,Neutral,Neutral,False,0.027,0.0481,,,0.0106,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,"2203332, 581225","Uncertain significance, Uncertain significance","1, 1",92.87,E,0.0054,2.6743,-4.3288,gain_of_function,-0.820561029711929,0.8720097470617222,,,0.2579,benign,-0.093440806,destabilizing,-0.205675382,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635L,NP_000240:p.Asn635Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50275,0.17619,-0.3238009958143351,Neutral,Neutral,False,0.027,0.06226,,,-0.07865,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0493,2.6743,-4.5512,loss_of_function,-1.6878582595088,0.7649410628368879,,,0.2723,benign,0.082746969,neutral,0.026110734,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635M,NP_000240:p.Asn635Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28194,0.56088,0.1757221854292068,Neutral,Neutral,False,0.027,0.11324,,,0.04442,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0038,2.6743,-4.6336,loss_of_function,-1.41131707749281,0.7990803399787821,,,0.2924,benign,0.072140799,neutral,0.061458475,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635P,NP_000240:p.Asn635Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.36468,7.01531,3.491585829118192,Destabilizing,Destabilizing,False,0.027,-0.02984,,,-0.018,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,-0.2473,2.6743,-22.0088,loss_of_function,-3.30197147098373,0.5656772213243093,,,0.9635,pathogenic,-0.698405969,destabilizing,-1.043634805,damaging,https://doi.org/10.1101/2022.10.22.513328 +N635Q,NP_000240:p.Asn635Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08297,0.20986,0.8883755529441963,Neutral,Neutral,False,0.027,-0.01332,,,-0.00256,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,0.0116,2.6743,-4.9137,gain_of_function,-1.25075435817728,0.8189019634108107,,,0.2649,benign,0.014975882,neutral,0.01625686,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635R,NP_000240:p.Asn635Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98568,-0.2381,0.0683392533878773,Neutral,Neutral,False,0.027,0.02164,,,-0.01123,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0316,2.6743,-5.2617,loss_of_function,-1.5093873945236,0.786973464221254,,,0.2552,benign,-0.02769479,neutral,-0.190641399,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635S,NP_000240:p.Asn635Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.49171,1.52823,1.3006475848385772,Uncertain,Uncertain,False,0.027,-0.0381,,,-0.01243,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89937,Uncertain significance,2,92.87,E,0.0264,2.6743,-6.7211,gain_of_function,-0.443935402032996,0.9185045460943214,,,0.1051,benign,-0.065726195,neutral,-0.088176639,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635T,NP_000240:p.Asn635Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25823,1.33844,0.8935085631639924,Uncertain,Uncertain,False,0.027,0.03314,,,-0.01693,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,-0.0172,2.6743,-5.5512,loss_of_function,-1.73720743116813,0.7588488597309384,,,0.2256,benign,-0.009188369,neutral,0.011617103,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635V,NP_000240:p.Asn635Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25413,0.26701,0.2777022768139991,Uncertain,Uncertain,False,0.027,0.01282,,,-0.08365,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0575,2.6743,-8.721,loss_of_function,-0.704419780297181,0.886347496949356,,,0.2953,benign,0.017112701,neutral,-0.048444394,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635W,NP_000240:p.Asn635Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86119,1.56361,-0.4385817760887761,Neutral,Neutral,False,0.027,0.05106,,,0.14696,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.1439,2.6743,-22.0088,loss_of_function,-2.66854866342223,0.6438738812853865,,,0.6806,pathogenic,0.212872594,stabilizing,-0.099639452,neutral,https://doi.org/10.1101/2022.10.22.513328 +N635Y,NP_000240:p.Asn635Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09697,0.58878,-0.2053033376398255,Neutral,Neutral,False,0.027,0.07874,,,-0.0847,,,Uncertain,Neutral,Uncertain,22.6,,False,22.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.0444,2.6743,-6.7211,loss_of_function,-2.15043939517914,0.7078349729730328,,,0.1087,benign,0.127393573,stabilizing,-0.188704917,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636A,NP_000240:p.Leu636Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.38366,3.85034,3.552334203813424,Destabilizing,Destabilizing,False,0.031,-0.08856,,,-0.01918,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.3382,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.8709,pathogenic,-0.463314075,destabilizing,-0.95879847,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636C,NP_000240:p.Leu636Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96523,3.1068,3.507816292285211,Destabilizing,Destabilizing,False,0.031,-0.0618,,,0.10821,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.2546,0.8707,-7.7279,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.8014,pathogenic,-0.011167964,neutral,-0.353509429,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636D,NP_000240:p.Leu636Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.45331,4.63571,4.539857330742143,Destabilizing,Destabilizing,False,0.031,-0.15926,,,0.02001,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.392,0.8707,-8.7278,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9992,pathogenic,-0.847703725,destabilizing,-1.01288527,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636E,NP_000240:p.Leu636Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.44889,4.06497,4.053396899712194,Destabilizing,Destabilizing,False,0.031,0.0406,,,-0.00455,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.4278,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.994,pathogenic,-0.760372013,destabilizing,-1.022365012,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636F,NP_000240:p.Leu636Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.93945,2.1381,2.0399685101577205,Uncertain,Uncertain,False,0.031,0.00714,,,0.26849,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.09,E,-0.2717,0.8707,-22.0156,loss_of_function,-3.68983920265709,0.5177945736496891,,,0.579,pathogenic,-0.054031793,neutral,-0.217312139,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636G,NP_000240:p.Leu636Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.38483,6.14524,5.585850016962428,Destabilizing,Destabilizing,False,0.031,-0.10424,,,-0.01128,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1782387,Likely pathogenic,1,93.09,E,-0.4131,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9822,pathogenic,-0.746701093,destabilizing,-1.063495254,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636H,NP_000240:p.Leu636His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.68779,3.66156,3.128651034443517,Destabilizing,Destabilizing,False,0.031,-0.08182,,,-0.04486,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.3128,0.8707,-8.7278,loss_of_function,-4.10269867414249,0.46682667145535695,,,0.9851,pathogenic,-0.761910905,destabilizing,-0.895585861,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636I,NP_000240:p.Leu636Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.81175,1.85034,1.3928186706644523,Uncertain,Uncertain,False,0.031,0.01004,,,0.08481,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.09,E,-0.1209,0.8707,-4.0841,loss_of_function,-0.99308277862625,0.8507117698264555,,,0.0898,benign,0.12327295,stabilizing,-0.171502008,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636K,NP_000240:p.Leu636Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.41512,6.67891,5.167815146168878,Destabilizing,Destabilizing,False,0.031,-0.03534,,,-0.01109,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.09,E,-0.4268,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9931,pathogenic,-0.816348595,destabilizing,-1.073660618,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636M,NP_000240:p.Leu636Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01393,1.92143,1.6270160505866764,Neutral,Neutral,False,0.031,-0.07512,,,0.07622,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.09,E,-0.1679,0.8707,-8.7278,loss_of_function,-2.83945372089813,0.6227754861762497,,,0.242,benign,0.110771524,stabilizing,-0.207530172,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636N,NP_000240:p.Leu636Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.76005,3.45374,3.3470487842877263,Destabilizing,Destabilizing,False,0.031,-0.0977,,,-0.05756,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.4061,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9935,pathogenic,-0.728366913,destabilizing,-1.022915781,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636P,NP_000240:p.Leu636Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.86971,8.29388,7.390721454759223,Destabilizing,Destabilizing,False,0.031,0.12076,,,0.26804,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89940,Conflicting classifications of pathogenicity,1,93.09,E,-0.4217,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9919,pathogenic,-0.707389886,destabilizing,-0.924082386,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636Q,NP_000240:p.Leu636Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9815,3.13435,3.1599231103110883,Destabilizing,Destabilizing,False,0.031,0.06744,,,0.05724,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.359,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.979,pathogenic,-0.807097462,destabilizing,-1.026012787,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636R,NP_000240:p.Leu636Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46957,6.34422,4.318302163008278,Destabilizing,Destabilizing,False,0.031,0.0393,,,0.04933,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1782419,Uncertain significance,1,93.09,E,-0.4184,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9827,pathogenic,-0.714882163,destabilizing,-1.053347382,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636S,NP_000240:p.Leu636Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.78328,4.7568,4.541359943653497,Destabilizing,Destabilizing,False,0.031,-0.07222,,,-0.01103,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.3686,0.8707,-22.0156,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9804,pathogenic,-0.731320667,destabilizing,-0.911189863,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636T,NP_000240:p.Leu636Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.84386,3.19626,3.3578274249976485,Destabilizing,Destabilizing,False,0.031,-0.02892,,,0.00719,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.09,E,-0.2736,0.8707,-8.7278,loss_of_function,-4.48381357180688,0.41977766768883323,,,0.9049,pathogenic,-0.645898967,destabilizing,-0.975897979,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636V,NP_000240:p.Leu636Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.79845,1.38061,1.8772953843922928,Neutral,Neutral,False,0.031,0.00924,,,-0.00845,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,220846,Uncertain significance,2,93.09,E,-0.1545,0.8707,-3.558,loss_of_function,-0.399551060267097,0.9239838361344536,,,0.0951,benign,0.009915932,neutral,-0.018193532,neutral,https://doi.org/10.1101/2022.10.22.513328 +L636W,NP_000240:p.Leu636Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.61529,4.1551,3.228114910606543,Destabilizing,Destabilizing,False,0.031,0.19566,,,0.12759,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.09,E,-0.3709,0.8707,-22.0156,loss_of_function,-4.10269867414249,0.46682667145535695,,,0.9454,pathogenic,-0.472700724,destabilizing,-0.983619973,damaging,https://doi.org/10.1101/2022.10.22.513328 +L636Y,NP_000240:p.Leu636Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.0758,4.39286,2.9906590472244847,Destabilizing,Uncertain,False,0.031,0.11782,,,0.17914,,,,Neutral,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.09,E,-0.3638,0.8707,-22.0156,loss_of_function,-4.10269867414249,0.46682667145535695,,,0.9541,pathogenic,-0.821380658,destabilizing,-1.040342659,damaging,https://doi.org/10.1101/2022.10.22.513328 +I637A,NP_000240:p.Ile637Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68637,1.66361,1.837416723420364,Neutral,Neutral,False,0.059,0.02748,,,-0.02096,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.0401,3.2557,-5.2651,loss_of_function,-0.224496301490622,0.9455945158940126,,,0.0928,benign,0.031331153,neutral,-0.012671838,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637C,NP_000240:p.Ile637Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.00197,1.76837,2.221428066303988,Uncertain,Uncertain,False,0.059,-0.0015,,,0.07712,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.0147,3.2557,-4.201,loss_of_function,-0.426116569362485,0.9207042982702864,,,0.338,benign,-0.010948367,neutral,0.035942871,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637D,NP_000240:p.Ile637Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92346,2.51224,2.3325296292562703,Uncertain,Uncertain,False,0.059,-0.13276,,,0.01612,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.2496,3.2557,-22.0122,loss_of_function,-1.50459361089355,0.7875652614599563,,,0.4016,ambiguous,0.100643026,neutral,-0.297320519,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637E,NP_000240:p.Ile637Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49415,2.24728,1.831333678189868,Uncertain,Neutral,False,0.059,-0.11668,,,-0.01098,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.1345,3.2557,-3.201,loss_of_function,-0.983562877337803,0.8518870108740292,,,0.2772,benign,0.026863767,neutral,-0.112789381,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637F,NP_000240:p.Ile637Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27117,1.50272,0.4364845384571486,Neutral,Neutral,False,0.059,-0.04772,,,0.0647,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.89,E,-0.0187,3.2557,-8.7244,loss_of_function,-1.62174962535712,0.7731022378428073,,,0.1095,benign,0.066215198,neutral,0.021286033,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637G,NP_000240:p.Ile637Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92667,2.87789,3.0204075515961963,Uncertain,Uncertain,False,0.059,0.0483,,,-0.01111,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.2162,3.2557,-22.0122,loss_of_function,-1.70518432128962,0.7628021437052022,,,0.2605,benign,-0.010014658,neutral,-0.163751056,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637H,NP_000240:p.Ile637His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96362,1.81769,1.167817747540746,Neutral,Neutral,False,0.059,-0.03326,,,-0.13556,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.1365,3.2557,-6.4026,loss_of_function,-1.08166983149763,0.8397756122273866,,,0.228,benign,-0.039265712,neutral,-0.016720789,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637K,NP_000240:p.Ile637Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25155,1.5585,1.4713193920738958,Neutral,Neutral,False,0.059,0.0245,,,-0.03357,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.89,E,-0.1332,3.2557,-4.4026,loss_of_function,-0.697160407565488,0.8872436735540733,,,0.1535,benign,-0.079819154,neutral,-0.041645745,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637L,NP_000240:p.Ile637Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16691,0.20374,0.250727706389709,Neutral,Neutral,False,0.059,-0.06382,,,0.00813,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.89,E,0.0874,3.2557,-2.7703,gain_of_function,-0.222007481880647,0.9459017630888127,,,0.078,benign,0.034743109,neutral,-0.066130829,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637M,NP_000240:p.Ile637Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61807,0.88231,0.8288904225762119,Neutral,Neutral,False,0.059,0.05748,,,0.0949,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,-,-,uncertain,neutral,233119,Uncertain significance,2,92.89,E,0.0646,3.2557,-6.1395,gain_of_function,-0.124279628603757,0.9579663613637603,,,0.074,benign,0.039194876,neutral,0.026588097,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637N,NP_000240:p.Ile637Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61069,1.81633,1.594970339519472,Neutral,Neutral,False,0.059,-0.00552,,,-0.03278,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.0847,3.2557,-6.7245,loss_of_function,-0.384349033649056,0.9258605410651561,,,0.149,benign,-0.014267524,neutral,0.033354456,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637P,NP_000240:p.Ile637Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46016,5.49048,5.113091540266496,Destabilizing,Destabilizing,False,0.059,0.00976,,,0.04769,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.2696,3.2557,-22.0122,loss_of_function,-1.93574459809543,0.7343392539091709,,,0.4601,ambiguous,-1.294634611,destabilizing,-1.035203363,damaging,https://doi.org/10.1101/2022.10.22.513328 +I637Q,NP_000240:p.Ile637Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35491,1.43027,1.5463658229369794,Neutral,Neutral,False,0.059,-0.01738,,,-0.02675,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.89,E,-0.1071,3.2557,-5.7245,loss_of_function,-0.831253733874876,0.8706897223617698,,,0.201,benign,-0.051144536,neutral,-0.025151849,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637R,NP_000240:p.Ile637Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07731,0.78435,1.015294714827137,Neutral,Neutral,False,0.059,0.0005,,,0.03269,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.89,E,-0.1632,3.2557,-5.0241,loss_of_function,-0.449300908094312,0.9178421691669559,,,0.0959,benign,-0.091707244,destabilizing,-0.152763773,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637S,NP_000240:p.Ile637Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16526,2.12347,2.4151698450632595,Uncertain,Uncertain,False,0.059,0.03486,,,0.06333,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,959480,Uncertain significance,1,92.89,E,-0.0789,3.2557,-4.9172,loss_of_function,-0.14964153622985,0.9548354092683714,,,0.1069,benign,0.004563092,neutral,-0.039205283,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637T,NP_000240:p.Ile637Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.45824,1.6119,1.630463659975444,Neutral,Neutral,False,0.059,-0.0009,,,-0.05182,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,644454,Uncertain significance,2,92.89,E,0.0182,3.2557,-2.201,gain_of_function,-0.0196605282854877,0.9708816907699047,,,0.0482,benign,-0.005548697,neutral,0.125938079,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637V,NP_000240:p.Ile637Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34463,0.24354,0.6055517642591209,Neutral,Neutral,False,0.059,0.00288,,,-0.0309,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1721411,Uncertain significance,1,92.89,E,0.1231,3.2557,-3.5952,gain_of_function,-0.0452661358305026,0.9677206536831562,,,0.063,benign,-0.007526803,neutral,0.034147805,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637W,NP_000240:p.Ile637Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27,1.40442,0.3133023735859064,Neutral,Neutral,False,0.059,-0.02978,,,0.10129,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.89,E,-0.1754,3.2557,-22.0122,loss_of_function,-1.62174962535712,0.7731022378428073,,,0.4736,ambiguous,0.132609634,stabilizing,0.014574178,neutral,https://doi.org/10.1101/2022.10.22.513328 +I637Y,NP_000240:p.Ile637Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43817,1.37177,0.6577724661155456,Neutral,Neutral,False,0.059,-0.0061,,,0.27337,,,Uncertain,Neutral,Uncertain,39.4,,True,39.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.89,E,-0.1165,3.2557,-8.7244,loss_of_function,-1.20468128903656,0.82458972848329,,,0.322,benign,-0.009835618,neutral,0.037169041,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638A,NP_000240:p.Gly638Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75372,0.84524,3.557245398386007,Neutral,Uncertain,False,0.083,0.10552,,,0.09431,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.0939,2.1088,-3.4766,loss_of_function,-0.725643977018415,0.8837273492784085,,,0.1965,benign,-0.084516543,destabilizing,-0.136347019,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638C,NP_000240:p.Gly638Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50773,4.52925,5.833277319206145,Uncertain,Uncertain,False,0.083,-0.24516,,,0.09228,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.1686,2.1088,-6.4026,loss_of_function,-1.78938492107849,0.752407497993665,,,0.4227,ambiguous,0.061175726,neutral,-0.033365657,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638D,NP_000240:p.Gly638Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.59041,9.56599,7.5851183690535215,Destabilizing,Destabilizing,False,0.083,-0.46822,,,0.11636,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2487,2.1088,-22.0122,loss_of_function,-3.48274341417054,0.5433607496040995,,,0.9338,pathogenic,-0.596040665,destabilizing,-0.929545149,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638E,NP_000240:p.Gly638Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.54825,9.91429,8.248073341591672,Destabilizing,Destabilizing,False,0.083,-0.11828,,,0.15082,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1782535,Uncertain significance,1,91.61,E,-0.1751,2.1088,-7.7244,loss_of_function,-2.85045608798518,0.6214172332879694,,,0.8904,pathogenic,0.11578963,stabilizing,-0.592040154,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638F,NP_000240:p.Gly638Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.1497,14.26701,6.820739622565209,Destabilizing,Destabilizing,False,0.083,0.3178,,,0.72443,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2863,2.1088,-22.0122,loss_of_function,-3.48274341417054,0.5433607496040995,,,0.943,pathogenic,-0.683071,destabilizing,-0.874346984,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638H,NP_000240:p.Gly638His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.11412,16.41088,7.233921436503259,Destabilizing,Destabilizing,False,0.083,0.05456,,,0.47657,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.1932,2.1088,-8.7244,loss_of_function,-2.55212141104245,0.6582469385164529,,,0.9055,pathogenic,0.046663364,neutral,-0.09786515,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638I,NP_000240:p.Gly638Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71477,14.53265,8.471872090246611,Uncertain,Uncertain,False,0.083,0.02754,,,0.42029,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.332,2.1088,-22.0122,loss_of_function,-3.97439138322663,0.4826663309663548,,,0.8443,pathogenic,-0.954393109,destabilizing,-0.882409889,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638K,NP_000240:p.Gly638Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.27011,8.15204,8.562883637892359,Destabilizing,Destabilizing,False,0.083,-0.00912,,,0.60212,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2132,2.1088,-8.7244,loss_of_function,-3.4438141153639,0.5481666092999716,,,0.9447,pathogenic,-0.065349646,neutral,-0.449503295,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638L,NP_000240:p.Gly638Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53421,10.03639,7.334718918223488,Uncertain,Uncertain,False,0.083,-0.45938,,,0.53817,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.3002,2.1088,-22.0122,loss_of_function,-3.97439138322663,0.4826663309663548,,,0.8884,pathogenic,-1.025547051,destabilizing,-1.045846305,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638M,NP_000240:p.Gly638Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.56788,10.30442,7.052574369168025,Destabilizing,Destabilizing,False,0.083,-0.58824,,,0.36851,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2384,2.1088,-22.0122,loss_of_function,-3.97439138322663,0.4826663309663548,,,0.9055,pathogenic,-0.324689895,destabilizing,-0.879940909,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638N,NP_000240:p.Gly638Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.68583,7.79558,6.151618759053982,Destabilizing,Destabilizing,False,0.083,0.06068,,,0.30525,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.1812,2.1088,-8.7244,loss_of_function,-2.4914359496782,0.6657386175817359,,,0.8833,pathogenic,0.036816359,neutral,-0.224863681,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638P,NP_000240:p.Gly638Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.60916,14.84422,10.24570959332829,Destabilizing,Destabilizing,False,0.083,-0.09248,,,2.37379,,,,Uncertain,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.3461,2.1088,-22.0122,loss_of_function,-3.97439138322663,0.4826663309663548,,,0.9937,pathogenic,-1.219012953,destabilizing,-1.053181644,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638Q,NP_000240:p.Gly638Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61261,6.43878,7.431367257717809,Uncertain,Uncertain,False,0.083,-0.04738,,,0.30122,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2519,2.1088,-22.0122,loss_of_function,-2.61484605090907,0.6505035208872181,,,0.8672,pathogenic,0.004569087,neutral,-0.335556494,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638R,NP_000240:p.Gly638Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.46636,11.68231,7.723964850301915,Destabilizing,Destabilizing,False,0.083,0.2915,,,0.24561,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,"1425242, 126988","Uncertain significance, not provided","1, 0",91.61,E,-0.1789,2.1088,-5.1395,loss_of_function,-2.44276592433312,0.6717469794164758,,,0.8363,pathogenic,-0.014116275,neutral,-0.638185445,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638S,NP_000240:p.Gly638Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9331,2.94116,5.232758315202911,Uncertain,Uncertain,False,0.083,0.1339,,,0.22328,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.0912,2.1088,-1.7938,loss_of_function,-1.06809475905973,0.8414514680865401,,,0.1746,benign,-0.083100291,destabilizing,-0.027700182,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638T,NP_000240:p.Gly638Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.21722,6.14796,6.660876866934646,Uncertain,Uncertain,False,0.083,0.11018,,,0.36063,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.1728,2.1088,-2.7245,loss_of_function,-1.05707811739517,0.8428114831852592,,,0.4553,ambiguous,-0.104096878,destabilizing,-0.017795605,neutral,https://doi.org/10.1101/2022.10.22.513328 +G638V,NP_000240:p.Gly638Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09614,6.56497,7.454213971468249,Uncertain,Uncertain,False,0.083,-0.0166,,,0.47151,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2074,2.1088,-8.7244,loss_of_function,-3.97439138322663,0.4826663309663548,,,0.7099,pathogenic,-0.406655385,destabilizing,-0.838581585,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638W,NP_000240:p.Gly638Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.16203,15.25238,7.709675764456372,Destabilizing,Destabilizing,False,0.083,-0.39204,,,1.01291,,,,Uncertain,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2861,2.1088,-22.0122,loss_of_function,-3.48274341417054,0.5433607496040995,,,0.9109,pathogenic,-0.430378991,destabilizing,-0.947940577,damaging,https://doi.org/10.1101/2022.10.22.513328 +G638Y,NP_000240:p.Gly638Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.4164,14.85816,7.291446281673923,Destabilizing,Destabilizing,False,0.083,0.44518,,,0.82535,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,E,-0.2867,2.1088,-22.0122,loss_of_function,-3.48274341417054,0.5433607496040995,,,0.9068,pathogenic,-0.111836313,destabilizing,-0.677568007,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639A,NP_000240:p.Leu639Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.30153,4.00952,3.381584762577797,Destabilizing,Destabilizing,False,0.122,0.29492,,,0.20018,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3311,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9162,pathogenic,-0.556023695,destabilizing,-1.007437468,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639C,NP_000240:p.Leu639Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.37935,3.6483,3.2799828964031863,Destabilizing,Destabilizing,False,0.122,0.40474,,,0.12255,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3203,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.8746,pathogenic,-0.12435564,destabilizing,-0.602786808,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639D,NP_000240:p.Leu639Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.5554,4.39286,4.290297124031844,Destabilizing,Destabilizing,False,0.122,0.43798,,,0.20382,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.4526,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9992,pathogenic,-1.218569856,destabilizing,-1.008078304,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639E,NP_000240:p.Leu639Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.46147,3.74898,3.735961496704,Destabilizing,Destabilizing,False,0.122,0.31306,,,0.1697,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.4207,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9931,pathogenic,-1.255945781,destabilizing,-1.001390591,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639F,NP_000240:p.Leu639Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43351,4.56769,1.7366556525371877,Uncertain,Neutral,False,0.122,0.41724,,,0.49405,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1365221,Uncertain significance,2,93.05,E,-0.2646,0.9476,-22.0054,loss_of_function,-3.47052443318621,0.5448691946580136,,,0.4102,ambiguous,-0.066149251,neutral,-0.463289508,neutral,https://doi.org/10.1101/2022.10.22.513328 +L639G,NP_000240:p.Leu639Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.30883,5.29932,5.2648811451627,Destabilizing,Destabilizing,False,0.122,0.76064,,,0.3206,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.406,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9883,pathogenic,-1.172638574,destabilizing,-1.093349201,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639H,NP_000240:p.Leu639His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.07348,4.15306,2.745709029748136,Destabilizing,Uncertain,False,0.122,0.32228,,,0.1773,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3735,0.9476,-22.0054,loss_of_function,-3.98746014612616,0.48105297951079123,,,0.9748,pathogenic,-1.227096034,destabilizing,-0.990228762,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639I,NP_000240:p.Leu639Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31796,1.19592,1.5492172474900567,Uncertain,Uncertain,False,0.122,0.26636,,,-0.17997,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,E,-0.1029,0.9476,-1.9495,loss_of_function,-0.901673855709246,0.8619962900196366,,,0.1056,benign,-0.034527026,neutral,0.032733674,neutral,https://doi.org/10.1101/2022.10.22.513328 +L639K,NP_000240:p.Leu639Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79544,5.32517,4.797317282326871,Destabilizing,Destabilizing,False,0.122,0.89444,,,0.5069,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,E,-0.4197,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.99,pathogenic,-1.201419282,destabilizing,-1.036427236,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639M,NP_000240:p.Leu639Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09701,2.02483,1.4330438741305809,Uncertain,Neutral,False,0.122,0.36026,,,0.28909,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.05,E,-0.1556,0.9476,-7.7176,loss_of_function,-1.72476521773862,0.7603848630467269,,,0.2033,benign,-0.020728233,neutral,-0.211921005,neutral,https://doi.org/10.1101/2022.10.22.513328 +L639N,NP_000240:p.Leu639Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28749,3.14762,2.992023401643514,Destabilizing,Uncertain,False,0.122,0.34004,,,0.03556,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3989,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9911,pathogenic,-1.220436545,destabilizing,-0.991151237,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639P,NP_000240:p.Leu639Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.31357,3.62347,7.565633052779888,Destabilizing,Destabilizing,False,0.122,0.24146,,,0.3063,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.4145,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9948,pathogenic,-1.329984093,destabilizing,-1.034402118,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639Q,NP_000240:p.Leu639Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68507,3.16633,2.710816589543762,Uncertain,Uncertain,False,0.122,0.41082,,,0.0079,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3519,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9636,pathogenic,-1.204847963,destabilizing,-1.03756474,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639R,NP_000240:p.Leu639Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76472,4.60136,3.807283820913977,Destabilizing,Destabilizing,False,0.122,1.1091,,,0.96398,,,,Uncertain,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,E,-0.4113,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9807,pathogenic,-1.281596903,destabilizing,-1.073893756,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639S,NP_000240:p.Leu639Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.19416,4.7466,4.40122322381632,Destabilizing,Destabilizing,False,0.122,0.51176,,,0.13584,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1716162,Uncertain significance,2,93.05,E,-0.2937,0.9476,-8.7175,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9698,pathogenic,-1.295712385,destabilizing,-1.002154153,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639T,NP_000240:p.Leu639Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79361,3.26361,3.3256794358408746,Destabilizing,Destabilizing,False,0.122,0.3407,,,0.13741,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.3342,0.9476,-22.0054,loss_of_function,-4.35795275356849,0.4353153077749217,,,0.9031,pathogenic,-0.283043889,destabilizing,-0.91073787,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639V,NP_000240:p.Leu639Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.74353,1.90646,2.0330637775736475,Uncertain,Uncertain,False,0.122,0.12344,,,0.06634,,,,Neutral,,1.1,,True,1.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.05,E,-0.1656,0.9476,-7.1327,loss_of_function,-1.56395477392842,0.7802370683078947,,,0.1852,benign,-0.010267954,neutral,-0.019672532,neutral,https://doi.org/10.1101/2022.10.22.513328 +L639W,NP_000240:p.Leu639Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.60339,7.48163,2.846138985208412,Destabilizing,Uncertain,False,0.122,1.081,,,0.67869,,,,Uncertain,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,E,-0.3637,0.9476,-22.0054,loss_of_function,-3.98746014612616,0.48105297951079123,,,0.8875,pathogenic,-1.046087224,destabilizing,-1.023782445,damaging,https://doi.org/10.1101/2022.10.22.513328 +L639Y,NP_000240:p.Leu639Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.51153,6.64082,2.677897804860997,Destabilizing,Uncertain,False,0.122,0.3649,,,1.83702,,,,Uncertain,,1.1,,True,1.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.05,E,-0.3566,0.9476,-22.0054,loss_of_function,-3.98746014612616,0.48105297951079123,,,0.9282,pathogenic,-0.349987866,destabilizing,-0.840029172,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640A,NP_000240:p.Pro640Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.11672,1.01293,0.2386380997906367,Uncertain,Uncertain,False,0.106,0.01504,,,-0.11964,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,928799,Conflicting classifications of pathogenicity,1,92.87,E,-0.3243,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.8592,pathogenic,-0.584179823,destabilizing,-0.67815379,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640C,NP_000240:p.Pro640Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.8882,1.92993,0.955195412862487,Uncertain,Uncertain,False,0.106,-0.01532,,,0.01211,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,-0.357,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9758,pathogenic,-1.019432681,destabilizing,-1.055045154,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640D,NP_000240:p.Pro640Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.343,5.83844,1.956933464077704,Destabilizing,Uncertain,False,0.106,-0.22132,,,-0.17841,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,-0.3828,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.998,pathogenic,-1.339625418,destabilizing,-1.014128508,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640E,NP_000240:p.Pro640Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.45576,3.74932,1.4427872380168154,Destabilizing,Uncertain,False,0.106,-0.18998,,,-0.28543,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.2988,0.0242,-8.7175,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9961,pathogenic,-1.188647246,destabilizing,-1.095537981,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640F,NP_000240:p.Pro640Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.56529,3.0,-0.6069329444503413,Destabilizing,Uncertain,False,0.106,-0.13636,,,-0.50931,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3854,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9945,pathogenic,-1.065941537,destabilizing,-1.008553603,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640G,NP_000240:p.Pro640Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.79498,2.60714,2.052184028988769,Uncertain,Uncertain,False,0.106,0.02944,,,-0.20457,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.87,E,-0.3386,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9755,pathogenic,-0.638756474,destabilizing,-1.023452096,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640H,NP_000240:p.Pro640His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.34887,3.06497,0.4437272148363808,Destabilizing,Uncertain,False,0.106,-0.02224,,,-0.03823,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.363,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9816,pathogenic,-1.270549681,destabilizing,-1.07950966,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640I,NP_000240:p.Pro640Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.9828,2.9915,-0.425673499250499,Uncertain,Uncertain,False,0.106,-0.03754,,,-0.23527,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3684,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9818,pathogenic,-1.302390038,destabilizing,-1.031644322,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640K,NP_000240:p.Pro640Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.86823,5.14422,2.03168542619017,Destabilizing,Uncertain,False,0.106,0.08554,,,-0.1411,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3583,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9969,pathogenic,-1.321782464,destabilizing,-0.948652174,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640L,NP_000240:p.Pro640Leu,"hg19,3:g.37090030C>T",,,0.955,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.76624,3.8068,-0.5911947154967295,Destabilizing,Uncertain,False,0.106,-0.0584,,,0.02117,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,89946,Likely pathogenic,2,92.87,E,-0.373,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.8699,pathogenic,-1.267071609,destabilizing,-1.034982819,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640M,NP_000240:p.Pro640Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.98885,0.43129,-0.5176306186671326,Neutral,Neutral,False,0.106,0.01834,,,-0.00551,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.324,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9852,pathogenic,-0.812608869,destabilizing,-1.024787475,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640N,NP_000240:p.Pro640Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.10695,3.65306,1.0591857614644284,Destabilizing,Uncertain,False,0.106,-0.00884,,,-0.35628,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.87,E,-0.351,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9946,pathogenic,-1.178726579,destabilizing,-0.940012324,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640Q,NP_000240:p.Pro640Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.18042,2.3915,0.5774395707094856,Uncertain,Uncertain,False,0.106,-0.01818,,,0.11381,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3527,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9835,pathogenic,-1.302933949,destabilizing,-1.021154685,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640R,NP_000240:p.Pro640Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.1779,3.86259,1.214272367882341,Destabilizing,Uncertain,False,0.106,0.21276,,,-0.05019,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,959603,Likely pathogenic,1,92.87,E,-0.3941,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9876,pathogenic,-1.305862107,destabilizing,-1.045812404,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640S,NP_000240:p.Pro640Ser,"hg19,3:g.37090029C>T",,,0.974,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.88135,2.40952,1.2793032175582135,Uncertain,Uncertain,False,0.106,-0.00144,,,0.07309,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89945,Likely pathogenic,3,92.87,E,-0.324,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9421,pathogenic,-1.016210055,destabilizing,-0.935640551,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640T,NP_000240:p.Pro640Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.4347,1.56531,0.7659527685950418,Uncertain,Uncertain,False,0.106,0.00512,,,-0.02068,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,492688,Likely pathogenic,2,92.87,E,-0.3361,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9407,pathogenic,-0.937469404,destabilizing,-1.157812032,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640V,NP_000240:p.Pro640Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.45044,1.21497,-0.2674531089910414,Uncertain,Uncertain,False,0.106,-0.00118,,,-0.11614,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3238,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9542,pathogenic,-1.169419366,destabilizing,-1.023841764,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640W,NP_000240:p.Pro640Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.59717,2.71905,-0.0495692935292768,Uncertain,Uncertain,False,0.106,-0.0461,,,-0.04559,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3979,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9986,pathogenic,-1.304403952,destabilizing,-1.011816553,damaging,https://doi.org/10.1101/2022.10.22.513328 +P640Y,NP_000240:p.Pro640Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.99251,1.92143,-0.0808899380953293,Uncertain,Uncertain,False,0.106,-0.0553,,,-0.54472,,,,Neutral,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.87,E,-0.3864,0.0242,-22.0054,loss_of_function,-4.99607091168114,0.35653900223420437,,,0.9954,pathogenic,-1.352833271,destabilizing,-0.993375279,damaging,https://doi.org/10.1101/2022.10.22.513328 +L641A,NP_000240:p.Leu641Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45861,1.65136,1.7162624408515348,Neutral,Neutral,False,0.107,1.52344,,,0.60352,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2056,1.4642,-6.7176,loss_of_function,-2.02968750622127,0.7227419107842032,,,0.5224,ambiguous,0.002131652,neutral,-0.09997443,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641C,NP_000240:p.Leu641Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79458,1.6102,1.9900005785966528,Neutral,Neutral,False,0.107,1.28142,,,0.57973,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2728,1.4642,-22.0054,loss_of_function,-3.3161075295787,0.5639321111799555,,,0.6137,pathogenic,-0.012306797,neutral,0.030951458,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641D,NP_000240:p.Leu641Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.38,2.25986,1.87953402910746,Uncertain,Neutral,False,0.107,1.73436,,,0.81699,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.3373,1.4642,-8.7175,loss_of_function,-2.20271690330432,0.7013812638901304,,,0.9648,pathogenic,0.04078585,neutral,0.000865916,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641E,NP_000240:p.Leu641Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85436,0.61667,1.5344873919582676,Neutral,Neutral,False,0.107,1.76798,,,0.64893,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.3054,1.4642,-8.7175,loss_of_function,-2.14226182181121,0.7088445023368718,,,0.756,pathogenic,0.050623191,neutral,-0.005789027,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641F,NP_000240:p.Leu641Phe,"hg19,3:g.37090032C>T",,,0.738,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98032,1.65544,0.6637078901416307,Neutral,Neutral,False,0.107,-0.1728,,,0.66167,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.95,E,-0.217,1.4642,-22.0054,loss_of_function,-3.36728512734664,0.5576141870974761,,,0.324,benign,0.010009101,neutral,-0.146113288,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641G,NP_000240:p.Leu641Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35967,3.49082,2.3287817778049305,Uncertain,Uncertain,False,0.107,1.69338,,,0.57074,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.3584,1.4642,-22.0054,loss_of_function,-4.01917544983475,0.4771376945067506,,,0.8312,pathogenic,-0.089727413,destabilizing,-0.232903967,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641H,NP_000240:p.Leu641His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76124,1.97517,1.127385090370015,Neutral,Neutral,False,0.107,0.93696,,,0.66263,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.326,1.4642,-22.0054,loss_of_function,-3.63695731985902,0.5243228933721531,,,0.5375,ambiguous,0.006663228,neutral,-0.079774695,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641I,NP_000240:p.Leu641Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44442,0.13231,0.9228164191173328,Neutral,Neutral,False,0.107,0.51702,,,-0.19895,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.95,E,-0.0705,1.4642,-4.9103,loss_of_function,-0.367278717523513,0.9279678881476459,,,0.1386,benign,-0.041494845,neutral,0.095888441,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641K,NP_000240:p.Leu641Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26475,2.02891,1.2004396374620596,Uncertain,Neutral,False,0.107,0.93536,,,0.91924,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.95,E,-0.2993,1.4642,-7.7176,loss_of_function,-3.67585015435431,0.5195215352308845,,,0.6734,pathogenic,-0.032438987,neutral,-0.028175034,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641M,NP_000240:p.Leu641Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22753,1.05918,0.9661646842422252,Neutral,Neutral,False,0.107,0.35822,,,0.47023,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.95,E,-0.086,1.4642,-3.3958,loss_of_function,-0.473664196402023,0.9148344975949991,,,0.1282,benign,0.047265966,neutral,-0.020296508,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641N,NP_000240:p.Leu641Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15313,1.7085,1.4138215324589938,Neutral,Neutral,False,0.107,1.52614,,,0.69233,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2755,1.4642,-7.1327,loss_of_function,-2.19631853426345,0.7021711487541134,,,0.7854,pathogenic,-0.070377766,neutral,-0.120099868,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641P,NP_000240:p.Leu641Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.1927,7.4449,4.601509539271627,Destabilizing,Destabilizing,False,0.107,3.60642,,,0.71704,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1782711,Uncertain significance,1,91.95,E,-0.367,1.4642,-22.0054,loss_of_function,-4.01917544983475,0.4771376945067506,,,0.9604,pathogenic,-0.600891928,destabilizing,-1.161523597,damaging,https://doi.org/10.1101/2022.10.22.513328 +L641Q,NP_000240:p.Leu641Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13507,1.43231,1.4729275499766403,Neutral,Neutral,False,0.107,1.17326,,,0.68332,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2189,1.4642,-5.2582,loss_of_function,-2.04562094602348,0.7207749121865048,,,0.3494,ambiguous,0.063564589,neutral,-0.007517355,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641R,NP_000240:p.Leu641Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.68774,1.88265,0.8582995349742758,Neutral,Neutral,False,0.107,1.71912,,,0.61452,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.95,E,-0.2879,1.4642,-7.1327,loss_of_function,-2.70473188877029,0.6394070270214396,,,0.4716,ambiguous,0.004652768,neutral,0.140369183,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641S,NP_000240:p.Leu641Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05991,2.26463,1.9933947287269995,Uncertain,Neutral,False,0.107,1.96282,,,0.59189,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2411,1.4642,-7.7176,loss_of_function,-2.34293769616674,0.6840708710087205,,,0.5404,ambiguous,0.007004764,neutral,-0.059459152,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641T,NP_000240:p.Leu641Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44193,1.81701,1.58572481382852,Neutral,Neutral,False,0.107,1.35774,,,0.68789,,,Uncertain,Uncertain,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.2867,1.4642,-22.0054,loss_of_function,-3.3161075295787,0.5639321111799555,,,0.5607,ambiguous,-0.005247369,neutral,0.029355341,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641V,NP_000240:p.Leu641Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01489,0.41871,1.154592221672096,Neutral,Neutral,False,0.107,0.5027,,,0.15017,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.95,E,-0.1038,1.4642,-4.3254,loss_of_function,-0.999481888695939,0.849921793481746,,,0.1292,benign,-0.02594788,neutral,0.076660763,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641W,NP_000240:p.Leu641Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92039,1.40272,0.4743869255254856,Neutral,Neutral,False,0.107,0.38188,,,0.86447,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.95,E,-0.3162,1.4642,-22.0054,loss_of_function,-3.63695731985902,0.5243228933721531,,,0.5947,pathogenic,0.043158247,neutral,-0.146293284,neutral,https://doi.org/10.1101/2022.10.22.513328 +L641Y,NP_000240:p.Leu641Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77372,1.98197,0.8400872692617906,Neutral,Neutral,False,0.107,0.83474,,,0.19021,,,Uncertain,Neutral,Uncertain,31.2,,True,31.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.95,E,-0.2362,1.4642,-7.7176,loss_of_function,-2.30471159998379,0.6887899196586499,,,0.6521,pathogenic,0.023638307,neutral,-0.190977802,neutral,https://doi.org/10.1101/2022.10.22.513328 +L642A,NP_000240:p.Leu642Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.03616,3.82653,4.174695162345701,Destabilizing,Destabilizing,False,0.129,0.0,,,-0.02075,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.3416,0.8337,-22.0054,loss_of_function,-2.95225084092282,0.6088505723053464,,,0.8899,pathogenic,-0.246308684,destabilizing,-1.07234381,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642C,NP_000240:p.Leu642Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.48406,3.4966,4.203126945323444,Destabilizing,Destabilizing,False,0.129,0.0,,,-0.04887,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.3308,0.8337,-22.0054,loss_of_function,-3.38260520071841,0.55572290918053,,,0.8764,pathogenic,0.054737058,neutral,-0.788629791,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642D,NP_000240:p.Leu642Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.76698,4.47993,5.191661457002718,Destabilizing,Destabilizing,False,0.129,-0.1417,,,-0.01457,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.4631,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.9992,pathogenic,-1.32799976,destabilizing,-0.977210264,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642E,NP_000240:p.Leu642Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.95348,3.75,4.788025575341546,Destabilizing,Destabilizing,False,0.129,-0.09436,,,0.15497,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.4312,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.9922,pathogenic,-1.332350857,destabilizing,-1.035435341,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642F,NP_000240:p.Leu642Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.98449,1.5,1.668332213195038,Uncertain,Uncertain,False,0.129,0.008,,,-0.02517,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.23,-,-0.2073,0.8337,-8.7175,loss_of_function,-3.80946079367071,0.5030271722160315,,,0.6105,pathogenic,0.082408205,neutral,-1.012453734,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642G,NP_000240:p.Leu642Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.29153,5.91871,6.085724365057226,Destabilizing,Destabilizing,False,0.129,-0.0146,,,0.01193,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.4165,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.982,pathogenic,-1.203251971,destabilizing,-1.057390831,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642H,NP_000240:p.Leu642His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25432,3.06565,3.191096671978694,Uncertain,Uncertain,False,0.129,0.00334,,,-0.01909,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.384,0.8337,-22.0054,loss_of_function,-4.22259922425846,0.4520248322499471,,,0.9791,pathogenic,-1.218636908,destabilizing,-1.048550829,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642I,NP_000240:p.Leu642Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.64321,1.1381,2.1320835097747945,Neutral,Uncertain,False,0.129,0.0,,,0.25255,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.23,-,-0.1234,0.8337,-3.9103,loss_of_function,-1.29522361115548,0.8134121909991632,,,0.1761,benign,-0.021033954,neutral,-0.225049166,neutral,https://doi.org/10.1101/2022.10.22.513328 +L642K,NP_000240:p.Leu642Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.12074,6.06463,5.960241606638538,Destabilizing,Destabilizing,False,0.129,0.0305,,,-0.00414,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.23,-,-0.4302,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.9915,pathogenic,-1.321947529,destabilizing,-1.006396243,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642M,NP_000240:p.Leu642Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11967,1.76973,2.2897932629040105,Neutral,Uncertain,False,0.129,0.0,,,-0.0578,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.23,-,-0.1523,0.8337,-5.0172,loss_of_function,-1.3707639052052,0.8040866684309026,,,0.3002,benign,0.081638778,neutral,-0.444864067,neutral,https://doi.org/10.1101/2022.10.22.513328 +L642N,NP_000240:p.Leu642Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.57652,3.30374,3.7080540053323583,Destabilizing,Destabilizing,False,0.129,0.0,,,0.08676,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.4094,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.9919,pathogenic,-1.30521165,destabilizing,-1.110646266,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642P,NP_000240:p.Leu642Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.83915,3.06803,7.677330881549135,Destabilizing,Destabilizing,False,0.129,-0.08726,,,-0.03426,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1782761,Uncertain significance,2,90.23,-,-0.425,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.9495,pathogenic,-0.180717238,destabilizing,-1.051921561,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642Q,NP_000240:p.Leu642Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.02931,2.67041,3.713955790838078,Uncertain,Destabilizing,False,0.129,0.0,,,-0.02395,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,619512,Uncertain significance,1,90.23,-,-0.3624,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.962,pathogenic,-1.209631027,destabilizing,-1.06835271,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642R,NP_000240:p.Leu642Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.60498,5.39388,4.920821576689944,Destabilizing,Destabilizing,False,0.129,0.12654,,,0.59289,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.23,-,-0.4218,0.8337,-22.0054,loss_of_function,-4.48292639218126,0.4198871908741067,,,0.979,pathogenic,-1.203916663,destabilizing,-0.993394453,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642S,NP_000240:p.Leu642Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.40795,4.69762,5.039402425226986,Destabilizing,Destabilizing,False,0.129,0.0,,,-0.01788,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.372,0.8337,-22.0054,loss_of_function,-3.91472112833896,0.490032681807438,,,0.9779,pathogenic,-1.109109157,destabilizing,-1.11187568,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642T,NP_000240:p.Leu642Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.02833,3.28027,4.162162265556151,Destabilizing,Destabilizing,False,0.129,0.0,,,0.13695,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.23,-,-0.2769,0.8337,-8.7175,loss_of_function,-3.91472112833896,0.490032681807438,,,0.9367,pathogenic,-0.265392731,destabilizing,-0.789349566,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642V,NP_000240:p.Leu642Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05179,2.24048,2.6069739920044888,Uncertain,Uncertain,False,0.129,0.0,,,0.06026,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,232280,Uncertain significance,2,90.23,-,-0.1633,0.8337,-4.6302,loss_of_function,-1.40484115362477,0.7998797990614008,,,0.2139,benign,0.09387843,neutral,-0.389728243,neutral,https://doi.org/10.1101/2022.10.22.513328 +L642W,NP_000240:p.Leu642Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.98201,3.60748,3.2151409329858347,Destabilizing,Destabilizing,False,0.129,-0.00202,,,-0.1423,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.23,-,-0.3742,0.8337,-22.0054,loss_of_function,-4.22259922425846,0.4520248322499471,,,0.9305,pathogenic,-1.147240043,destabilizing,-0.946210244,damaging,https://doi.org/10.1101/2022.10.22.513328 +L642Y,NP_000240:p.Leu642Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.64053,1.59048,2.769710917999169,Uncertain,Uncertain,False,0.129,-0.01056,,,-0.18707,,,,Neutral,,0.3,,True,0.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.23,-,-0.3671,0.8337,-22.0054,loss_of_function,-4.22259922425846,0.4520248322499471,,,0.965,pathogenic,-0.374204043,destabilizing,-1.011112434,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643A,NP_000240:p.Ile643Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70165,2.99014,3.0805805344446413,Uncertain,Uncertain,False,0.152,-0.0024,,,-0.00335,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.225,1.3824,-7.7176,loss_of_function,-4.01106893930131,0.47813845109474684,,,0.3122,benign,0.199504425,stabilizing,-0.889581976,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643C,NP_000240:p.Ile643Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12815,2.8034,2.953375895543769,Uncertain,Uncertain,False,0.152,-0.0031,,,0.00056,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.2779,1.3824,-22.0054,loss_of_function,-3.38689394351923,0.5551934597220439,,,0.7448,pathogenic,0.076921366,neutral,-0.537103143,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643D,NP_000240:p.Ile643Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.78112,4.66871,3.977317963388255,Destabilizing,Destabilizing,False,0.152,-0.02846,,,0.14888,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.422,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.929,pathogenic,-0.123744295,destabilizing,-1.009148603,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643E,NP_000240:p.Ile643Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13427,3.89694,3.6613806765829713,Destabilizing,Destabilizing,False,0.152,-0.02988,,,0.06969,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.4029,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.863,pathogenic,-0.036250425,neutral,-0.953678112,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643F,NP_000240:p.Ile643Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.67466,4.36463,1.1116255506508714,Uncertain,Uncertain,False,0.152,0.0072,,,-0.00068,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.07,S,-0.2589,1.3824,-22.0054,loss_of_function,-3.3546313328831,0.5591763102971318,,,0.2186,benign,0.026118665,neutral,-0.915475445,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643G,NP_000240:p.Ile643Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.54354,5.23673,4.479055384995972,Destabilizing,Destabilizing,False,0.152,-0.0132,,,0.04626,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.3886,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.7829,pathogenic,-0.684164618,destabilizing,-1.24026798,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643H,NP_000240:p.Ile643His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.33409,4.75986,2.447233793766892,Destabilizing,Uncertain,False,0.152,-0.01128,,,-0.12422,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.3885,1.3824,-22.0054,loss_of_function,-3.87489052477679,0.49494980844957126,,,0.8271,pathogenic,0.026343159,neutral,-0.91963585,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643K,NP_000240:p.Ile643Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.49868,4.36497,3.550884400958252,Uncertain,Uncertain,False,0.152,-0.01676,,,0.07607,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.07,S,-0.3954,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.7634,pathogenic,-0.12056678,destabilizing,-0.961976677,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643L,NP_000240:p.Ile643Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15153,0.97279,0.8162198808342482,Neutral,Neutral,False,0.152,-0.0016,,,-0.01408,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.07,S,-0.0746,1.3824,-0.7519,loss_of_function,-0.270491997970328,0.9399163025515804,,,0.0606,benign,0.035969632,neutral,0.02159766,neutral,https://doi.org/10.1101/2022.10.22.513328 +I643M,NP_000240:p.Ile643Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72712,2.42449,1.6741212509517212,Uncertain,Neutral,False,0.152,-0.00264,,,0.12542,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.07,S,-0.1078,1.3824,-6.1327,loss_of_function,-1.62846957825007,0.7722726531403754,,,0.0724,benign,0.200744382,stabilizing,-0.256259503,neutral,https://doi.org/10.1101/2022.10.22.513328 +I643N,NP_000240:p.Ile643Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.16401,3.14524,2.7401158695144545,Destabilizing,Uncertain,False,0.152,-0.00182,,,-0.11749,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.335,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.6853,pathogenic,-0.131435285,destabilizing,-0.974985988,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643P,NP_000240:p.Ile643Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.40262,7.19388,6.816203939935579,Destabilizing,Destabilizing,False,0.152,-0.00294,,,-0.05155,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.3742,1.3824,-8.7175,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.8739,pathogenic,-1.192913102,destabilizing,-1.153664978,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643Q,NP_000240:p.Ile643Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23847,3.04592,2.848039169244926,Uncertain,Uncertain,False,0.152,0.02652,,,0.03132,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.3626,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.7696,pathogenic,-0.01162283,neutral,-0.858679047,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643R,NP_000240:p.Ile643Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.50933,3.79762,2.869757945723943,Uncertain,Uncertain,False,0.152,-0.01418,,,0.17281,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.07,S,-0.4222,1.3824,-22.0054,loss_of_function,-4.38394351485405,0.43210672308533565,,,0.6581,pathogenic,-0.023226874,neutral,-0.981370217,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643S,NP_000240:p.Ile643Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.0811,3.74014,3.587921056414497,Destabilizing,Destabilizing,False,0.152,-0.0028,,,-0.00102,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.07,S,-0.3385,1.3824,-22.0054,loss_of_function,-4.01106893930131,0.47813845109474684,,,0.4814,ambiguous,-0.009560747,neutral,-0.980749316,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643T,NP_000240:p.Ile643Thr,"hg19,3:g.37090039T>C",,,0.813,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70223,2.60374,2.736889303303961,Uncertain,Uncertain,False,0.152,0.0,,,-0.05999,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,479679,Uncertain significance,2,88.07,S,-0.2553,1.3824,-22.0054,loss_of_function,-4.01106893930131,0.47813845109474684,,,0.1763,benign,0.049003458,neutral,-0.914607382,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643V,NP_000240:p.Ile643Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.47355,0.94286,1.1296933453884124,Neutral,Neutral,False,0.152,0.0002,,,0.0371,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,2134202,Uncertain significance,1,88.07,S,-0.0506,1.3824,-3.8597,loss_of_function,-1.38559767618681,0.8022554250156948,,,0.0873,benign,0.009643116,neutral,-0.048961498,neutral,https://doi.org/10.1101/2022.10.22.513328 +I643W,NP_000240:p.Ile643Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.0919,2.8619,1.9313791960813207,Uncertain,Uncertain,False,0.152,-0.02756,,,-0.00724,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.07,S,-0.3478,1.3824,-22.0054,loss_of_function,-3.87489052477679,0.49494980844957126,,,0.8091,pathogenic,0.020675133,neutral,-0.900030546,damaging,https://doi.org/10.1101/2022.10.22.513328 +I643Y,NP_000240:p.Ile643Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.4306,1.74354,1.89492195728595,Uncertain,Uncertain,False,0.152,0.01522,,,-0.13959,,,,Neutral,,18.1,,True,18.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.07,S,-0.3566,1.3824,-22.0054,loss_of_function,-3.87489052477679,0.49494980844957126,,,0.7446,pathogenic,0.019078138,neutral,-0.692131622,damaging,https://doi.org/10.1101/2022.10.22.513328 +D644A,NP_000240:p.Asp644Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13752,0.16599,0.3951406102869836,Neutral,Neutral,False,0.063,0.27148,,,0.46861,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,83.48,T,-0.0708,2.1597,-6.7176,loss_of_function,-2.53848072099107,0.6599308949336342,,,0.3301,benign,0.027516806,neutral,0.182499871,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644C,NP_000240:p.Asp644Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27485,0.66361,1.111671457927732,Neutral,Neutral,False,0.063,0.07716,,,0.71819,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.48,T,-0.1903,2.1597,-22.0054,loss_of_function,-3.55712605713901,0.5341781401846448,,,0.7377,pathogenic,0.013990481,neutral,0.074063023,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644E,NP_000240:p.Asp644Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29693,-0.07143,-0.093134375747314,Neutral,Neutral,False,0.063,-0.15786,,,-0.45297,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.0028,2.1597,-4.1941,loss_of_function,-0.110877241991067,0.9596208989903009,,,0.2099,benign,-0.039391557,neutral,0.150896065,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644F,NP_000240:p.Asp644Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1208,0.45306,0.2662120177896954,Neutral,Neutral,False,0.063,-0.0092,,,0.53331,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.2489,2.1597,-22.0054,loss_of_function,-3.69943490358028,0.516609975063687,,,0.8273,pathogenic,0.032546825,neutral,-0.216401138,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644G,NP_000240:p.Asp644Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25591,1.18741,0.8872983948020104,Neutral,Neutral,False,0.063,0.1727,,,0.61894,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,83.48,T,-0.0819,2.1597,-6.7176,loss_of_function,-2.65460309985998,0.6455954746331868,,,0.241,benign,0.007991662,neutral,-0.0749841,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644H,NP_000240:p.Asp644His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14428,0.38435,-0.051742354601672,Neutral,Neutral,False,0.063,0.28584,,,0.10343,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.0822,2.1597,-7.1327,loss_of_function,-2.99525719305579,0.6035413964219352,,,0.4352,ambiguous,0.054129428,neutral,-0.012379712,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644I,NP_000240:p.Asp644Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23838,0.09558,0.3490561794946073,Neutral,Neutral,False,0.063,-0.05772,,,0.86154,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.2411,2.1597,-22.0054,loss_of_function,-3.67585943459669,0.5195203895759615,,,0.6733,pathogenic,-0.031731595,neutral,0.02866344,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644K,NP_000240:p.Asp644Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14072,0.00612,0.1396387083607464,Neutral,Neutral,False,0.063,0.19628,,,0.89783,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.1174,2.1597,-2.0034,loss_of_function,-1.67982462949284,0.7659328222543133,,,0.5285,ambiguous,0.039479213,neutral,0.002471213,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644L,NP_000240:p.Asp644Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12336,0.0051,-0.0732257554479298,Neutral,Neutral,False,0.063,-0.228,,,0.66451,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.167,2.1597,-8.7175,loss_of_function,-3.67585943459669,0.5195203895759615,,,0.6702,pathogenic,0.235075948,stabilizing,-0.052869938,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644M,NP_000240:p.Asp644Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29254,0.13469,0.1901838633990726,Neutral,Neutral,False,0.063,-0.53792,,,0.61743,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.1735,2.1597,-22.0054,loss_of_function,-3.67585943459669,0.5195203895759615,,,0.839,pathogenic,-0.011887743,neutral,0.039666048,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644N,NP_000240:p.Asp644Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25398,0.28129,0.1976452903183234,Neutral,Neutral,False,0.063,0.05698,,,0.40447,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,-,-,uncertain,neutral,418739,Uncertain significance,1,83.48,T,-0.0375,2.1597,-6.7176,loss_of_function,-1.66531341639355,0.7677242455860943,,,0.1651,benign,-0.021926237,neutral,0.027236669,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644P,NP_000240:p.Asp644Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14729,-0.9432,0.4169146513410843,Neutral,Neutral,False,0.063,0.139,,,0.74046,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.48,T,-0.192,2.1597,-3.6302,loss_of_function,-2.08759630979179,0.715593012816684,,,0.7339,pathogenic,-0.011477406,neutral,-0.002784991,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644Q,NP_000240:p.Asp644Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19085,-0.39184,0.3558586098596439,Neutral,Neutral,False,0.063,0.15458,,,0.40616,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.1028,2.1597,-7.7176,loss_of_function,-1.81002444729597,0.7498595284634878,,,0.4737,ambiguous,-0.019108763,neutral,0.054822196,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644R,NP_000240:p.Asp644Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10491,0.50068,0.1988571600564903,Neutral,Neutral,False,0.063,0.35178,,,0.80367,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.1572,2.1597,-3.7177,loss_of_function,-1.83625137185403,0.7466217891888527,,,0.51,ambiguous,-0.016041234,neutral,0.044338023,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644S,NP_000240:p.Asp644Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0886,0.28469,0.283604865663204,Neutral,Neutral,False,0.063,0.23616,,,0.48394,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,83.48,T,-0.1552,2.1597,-22.0054,loss_of_function,-2.6476060402629,0.646459268427014,,,0.1885,benign,-0.002733518,neutral,0.019284801,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644T,NP_000240:p.Asp644Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09647,0.04864,0.3402315132646932,Neutral,Neutral,False,0.063,0.2889,,,0.38457,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.48,T,-0.1852,2.1597,-22.0054,loss_of_function,-3.55712605713901,0.5341781401846448,,,0.445,ambiguous,-0.014033869,neutral,0.029922765,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644V,NP_000240:p.Asp644Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15222,0.24286,0.4404956742531635,Neutral,Neutral,False,0.063,0.28972,,,0.50064,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1782891,Uncertain significance,1,83.48,T,-0.1199,2.1597,-7.1327,loss_of_function,-2.32965326879756,0.6857108464522389,,,0.4371,ambiguous,-0.01505955,neutral,-0.037122607,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644W,NP_000240:p.Asp644Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21298,0.39388,-0.0769412507232797,Neutral,Neutral,False,0.063,0.13804,,,0.41235,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.2294,2.1597,-22.0054,loss_of_function,-3.69943490358028,0.516609975063687,,,0.9457,pathogenic,-0.048040449,neutral,-0.191694175,neutral,https://doi.org/10.1101/2022.10.22.513328 +D644Y,NP_000240:p.Asp644Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1164,0.22109,0.2443983601406502,Neutral,Neutral,False,0.063,0.06004,,,0.55161,,,Uncertain,Neutral,Uncertain,93.1,,True,93.1,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,83.48,T,-0.1938,2.1597,-22.0054,loss_of_function,-3.69943490358028,0.516609975063687,,,0.4088,ambiguous,-0.100439321,destabilizing,-0.196232233,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645A,NP_000240:p.Asn645Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52873,0.74932,0.9376170407376584,Neutral,Neutral,False,0.043,0.0007,,,-0.15133,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,82.85,T,-0.0508,2.2727,-8.7175,loss_of_function,-0.933619737124709,0.8580525399740412,,,0.1793,benign,-0.009311316,neutral,-0.153843729,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645C,NP_000240:p.Asn645Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06447,1.1085,1.2692233213568338,Neutral,Neutral,False,0.043,0.04352,,,-0.00674,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,82.85,T,-0.1685,2.2727,-22.0054,loss_of_function,-2.51788544745867,0.6624734014269169,,,0.1737,benign,0.015266383,neutral,-0.074047211,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645D,NP_000240:p.Asn645Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31541,-0.50238,0.4669875616851615,Neutral,Neutral,False,0.043,0.10774,,,0.0019,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,82.85,T,-0.0258,2.2727,-3.1941,loss_of_function,-0.427404645169014,0.9205452840626436,,,0.0928,benign,0.017244821,neutral,0.061821544,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645E,NP_000240:p.Asn645Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22901,0.32857,0.7256296661483377,Neutral,Neutral,False,0.043,-0.04548,,,-0.03091,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.0635,2.2727,-5.2582,loss_of_function,-0.776508786417485,0.8774480392234452,,,0.2806,benign,0.087588375,neutral,0.035774974,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645F,NP_000240:p.Asn645Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81668,-0.22551,0.4435499065369597,Neutral,Neutral,False,0.043,-0.03964,,,0.0037,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1757,2.2727,-22.0054,loss_of_function,-2.65247162554121,0.6458586072051923,,,0.4836,ambiguous,0.133590426,stabilizing,-0.347405409,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645G,NP_000240:p.Asn645Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60161,0.22449,0.9642751918075124,Neutral,Neutral,False,0.043,-0.0049,,,-0.06039,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,82.85,T,-0.0452,2.2727,-1.5884,loss_of_function,-0.668446882104708,0.8907883861219458,,,0.1569,benign,0.067309282,neutral,-0.264634154,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645H,NP_000240:p.Asn645His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01737,0.24048,0.3022092518216573,Neutral,Neutral,False,0.043,0.0145,,,0.10356,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.0426,2.2727,-6.1327,loss_of_function,-1.76361622695821,0.7555886682763104,,,0.0749,benign,0.023686496,neutral,-0.089264024,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645I,NP_000240:p.Asn645Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90737,2.83095,1.219173849700836,Uncertain,Neutral,False,0.043,0.00324,,,-0.17156,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,3230765,Uncertain significance,1,82.85,T,-0.1689,2.2727,-22.0054,loss_of_function,-2.93708989260944,0.6107222060794962,,,0.2769,benign,-0.007525774,neutral,-0.740791188,damaging,https://doi.org/10.1101/2022.10.22.513328 +N645K,NP_000240:p.Asn645Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01504,0.05068,0.7267901727982387,Neutral,Neutral,False,0.043,0.0203,,,0.0488,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,"233213, 216335","Uncertain significance, Uncertain significance","2, 2",82.85,T,-0.0278,2.2727,-3.5884,loss_of_function,-0.635675725846968,0.8948340171472685,,,0.1878,benign,0.02174847,neutral,0.078269459,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645L,NP_000240:p.Asn645Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16449,-0.05578,0.157278257450244,Neutral,Neutral,False,0.043,0.07652,,,-0.02738,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1753,2.2727,-22.0054,loss_of_function,-2.16497210705344,0.7060408955966246,,,0.2595,benign,0.058652168,neutral,-0.342689177,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645M,NP_000240:p.Asn645Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.1253,0.60476,0.5109422071891953,Neutral,Neutral,False,0.043,0.0004,,,0.02849,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1294,2.2727,-22.0054,loss_of_function,-2.93708989260944,0.6107222060794962,,,0.3179,benign,-0.007165587,neutral,-0.140224419,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645P,NP_000240:p.Asn645Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.54136,5.63299,4.983819569299233,Destabilizing,Destabilizing,False,0.043,0.21308,,,0.58639,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,82.85,T,-0.2164,2.2727,-8.7175,loss_of_function,-3.17503345675205,0.5813478423005602,,,0.6528,pathogenic,-0.017805273,neutral,-0.808294472,damaging,https://doi.org/10.1101/2022.10.22.513328 +N645Q,NP_000240:p.Asn645Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30392,-0.1381,0.8848626751944124,Neutral,Neutral,False,0.043,-0.00352,,,-0.10023,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.0294,2.2727,-5.7177,loss_of_function,-1.41306552178878,0.7988644928345986,,,0.2287,benign,-0.005946857,neutral,0.039547074,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645R,NP_000240:p.Asn645Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20571,1.02619,0.4972486509617052,Neutral,Neutral,False,0.043,0.04786,,,-0.04669,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.0811,2.2727,-7.7176,loss_of_function,-1.54670617542959,0.7823664245222859,,,0.2026,benign,-0.041036708,neutral,-0.075396885,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645S,NP_000240:p.Asn645Ser,"hg19,3:g.37090045A>G",,,0.254,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53901,0.13265,0.9809779233619488,Neutral,Neutral,False,0.043,0.00152,,,-0.02479,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,89951,Uncertain significance,2,82.85,T,-0.0018,2.2727,-5.0172,loss_of_function,-0.518400643310182,0.9093117398335423,,,0.0647,benign,0.037414666,neutral,0.080169711,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645T,NP_000240:p.Asn645Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31205,0.7949,1.199133250109636,Neutral,Neutral,False,0.043,0.00084,,,-0.0223,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,82.85,T,-0.1381,2.2727,-22.0054,loss_of_function,-2.51788544745867,0.6624734014269169,,,0.1113,benign,0.033274766,neutral,-0.078199614,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645V,NP_000240:p.Asn645Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.25243,3.68435,1.116067555998074,Uncertain,Uncertain,False,0.043,0.00172,,,-0.02662,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1622,2.2727,-22.0054,loss_of_function,-2.93708989260944,0.6107222060794962,,,0.2664,benign,0.115678862,stabilizing,-0.529073947,damaging,https://doi.org/10.1101/2022.10.22.513328 +N645W,NP_000240:p.Asn645Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1824,-0.16769,0.2454641237290439,Neutral,Neutral,False,0.043,-0.00584,,,-0.08498,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1809,2.2727,-22.0054,loss_of_function,-2.65247162554121,0.6458586072051923,,,0.6962,pathogenic,0.195810338,stabilizing,-0.35083899,neutral,https://doi.org/10.1101/2022.10.22.513328 +N645Y,NP_000240:p.Asn645Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00682,0.1415,0.5398490483684673,Neutral,Neutral,False,0.043,0.03534,,,0.02097,,,Uncertain,Neutral,Uncertain,65.1,,False,65.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.85,T,-0.1593,2.2727,-22.0054,loss_of_function,-2.11231671745029,0.7125412545144961,,,0.1453,benign,-0.048595678,neutral,-0.359474022,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y646A,NP_000240:p.Tyr646Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.41833,5.57279,3.688846552933636,Destabilizing,Destabilizing,False,0.064,0.0,,,0.09906,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.3854,0.7117,-22.0054,loss_of_function,-2.65758032439902,0.6452279333761813,,,0.845,pathogenic,-0.692586798,destabilizing,-1.066030421,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646C,NP_000240:p.Tyr646Cys,"hg19,3:g.37090048A>G",3.186336987e-05,4.3766810434e-05,0.958,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.35361,5.0119,3.8930091353724463,Destabilizing,Destabilizing,False,0.064,0.0,,,-0.15378,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,36545,Conflicting classifications of pathogenicity,1,88.07,B,-0.356,0.7117,-22.0054,loss_of_function,-3.72180805146795,0.5138479882568554,,,0.2463,benign,-0.437713398,destabilizing,-1.180238555,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646D,NP_000240:p.Tyr646Asp,"hg19,3:g.37090047T>G",,,0.921,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.7279,6.41497,4.57676098462924,Destabilizing,Destabilizing,False,0.064,0.02878,,,-0.00137,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,1782973,Likely pathogenic,1,88.07,B,-0.3996,0.7117,-22.0054,loss_of_function,-4.24698940224687,0.44901384112082726,,,0.8608,pathogenic,-1.164733588,destabilizing,-1.039177396,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646E,NP_000240:p.Tyr646Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.01753,6.8449,4.126609363109124,Destabilizing,Destabilizing,False,0.064,0.0228,,,-0.10296,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.4283,0.7117,-22.0054,loss_of_function,-4.24698940224687,0.44901384112082726,,,0.9552,pathogenic,-1.144635484,destabilizing,-1.075839025,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646F,NP_000240:p.Tyr646Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47458,0.29966,0.0108106408767749,Neutral,Neutral,False,0.064,0.0,,,0.01891,,,,Neutral,,0.5,,True,0.5,,uncertain,,,-,-,uncertain,neutral,,,,88.07,B,-0.1398,0.7117,-5.7177,loss_of_function,-0.512850731285471,0.9099968818559474,,,0.0972,benign,-0.053572802,neutral,-0.139457536,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y646G,NP_000240:p.Tyr646Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.59074,7.41905,5.321587147266023,Destabilizing,Destabilizing,False,0.064,-0.0055,,,-0.10062,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.4559,0.7117,-22.0054,loss_of_function,-3.36279514317686,0.5581684799981479,,,0.8494,pathogenic,-1.080541915,destabilizing,-1.04565811,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646H,NP_000240:p.Tyr646His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93251,3.02789,1.9851091274298944,Destabilizing,Uncertain,False,0.064,0.0,,,0.0856,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,820378,Uncertain significance,2,88.07,B,-0.1998,0.7117,-3.7177,loss_of_function,-1.3419672628535,0.8076416418595757,,,0.3735,ambiguous,-0.026672209,neutral,-0.936111803,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646I,NP_000240:p.Tyr646Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.51281,2.96701,2.2743539941109727,Uncertain,Uncertain,False,0.064,-0.03656,,,0.10723,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.3974,0.7117,-22.0054,loss_of_function,-2.82754578829605,0.6242455320056839,,,0.6562,pathogenic,-0.118623615,destabilizing,-1.01181371,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646K,NP_000240:p.Tyr646Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.18854,5.09932,4.43517897275072,Destabilizing,Destabilizing,False,0.064,-0.02624,,,0.00325,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.4536,0.7117,-22.0054,loss_of_function,-4.4086867765279,0.42905214343278636,,,0.9534,pathogenic,-1.244011678,destabilizing,-1.016099583,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646L,NP_000240:p.Tyr646Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48894,2.53912,1.6714344070497462,Uncertain,Neutral,False,0.064,0.0,,,0.1254,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.3067,0.7117,-8.7175,loss_of_function,-3.0729791978916,0.5939465395410533,,,0.6467,pathogenic,-0.035768441,neutral,-0.923026934,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646M,NP_000240:p.Tyr646Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54855,2.24592,2.0298462637559536,Uncertain,Uncertain,False,0.064,0.0,,,-0.00535,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.3266,0.7117,-22.0054,loss_of_function,-3.79304748267525,0.505053411377972,,,0.7789,pathogenic,-0.086423046,destabilizing,-1.056089725,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646N,NP_000240:p.Tyr646Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.11271,4.72619,3.5342040678631674,Destabilizing,Destabilizing,False,0.064,0.0,,,-0.07579,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,455411,Uncertain significance,2,88.07,B,-0.3786,0.7117,-22.0054,loss_of_function,-4.24698940224687,0.44901384112082726,,,0.662,pathogenic,-0.793221098,destabilizing,-0.982853179,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646P,NP_000240:p.Tyr646Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.77826,12.26259,8.069692134694446,Destabilizing,Destabilizing,False,0.064,0.00184,,,-0.05767,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.5096,0.7117,-22.0054,loss_of_function,-4.4086867765279,0.42905214343278636,,,0.9883,pathogenic,-1.268438851,destabilizing,-0.985487327,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646Q,NP_000240:p.Tyr646Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.62506,3.86327,3.491632771634537,Destabilizing,Destabilizing,False,0.064,0.0,,,-0.04786,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.4031,0.7117,-22.0054,loss_of_function,-3.95208442817371,0.48542014620353485,,,0.8991,pathogenic,-0.871822676,destabilizing,-1.02878824,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646R,NP_000240:p.Tyr646Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.64763,4.77891,3.556208642590343,Destabilizing,Destabilizing,False,0.064,-0.13702,,,0.10103,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.4489,0.7117,-22.0054,loss_of_function,-4.4086867765279,0.42905214343278636,,,0.8597,pathogenic,-0.860930156,destabilizing,-1.067699356,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646S,NP_000240:p.Tyr646Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.52757,6.33741,4.506153065696095,Destabilizing,Destabilizing,False,0.064,-0.0109,,,0.11473,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,237324,Conflicting classifications of pathogenicity,1,88.07,B,-0.3223,0.7117,-8.7175,loss_of_function,-2.66742346804131,0.6440127877465073,,,0.6479,pathogenic,-0.947511922,destabilizing,-1.020885814,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646T,NP_000240:p.Tyr646Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.57348,5.95476,3.68349890059466,Destabilizing,Destabilizing,False,0.064,-0.0015,,,0.05771,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.3358,0.7117,-7.7176,loss_of_function,-2.87435108947823,0.6184673721774818,,,0.8065,pathogenic,-0.961197956,destabilizing,-1.020125472,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646V,NP_000240:p.Tyr646Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73965,3.63741,2.6407158223207947,Destabilizing,Uncertain,False,0.064,-0.0063,,,-0.03289,,,,Neutral,,0.5,,True,0.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,88.07,B,-0.309,0.7117,-6.7176,loss_of_function,-2.798420241263,0.6278411090362798,,,0.5352,ambiguous,-0.196532168,destabilizing,-1.020220781,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y646W,NP_000240:p.Tyr646Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6141,2.28878,0.3802290928678381,Uncertain,Neutral,False,0.064,-0.1925,,,0.01696,,,,Neutral,,0.5,,True,0.5,,uncertain,,,UP,-,neutral,neutral,,,,88.07,B,-0.2351,0.7117,-8.7175,loss_of_function,-2.79724562504694,0.6279861165474326,,,0.5661,pathogenic,0.018154635,neutral,-0.910847301,damaging,https://doi.org/10.1101/2022.10.22.513328 +V647A,NP_000240:p.Val647Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02759,2.27109,1.6587108237520989,Uncertain,Neutral,False,0.069,0.8179,,,0.18605,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,234041,Uncertain significance,2,87.6,-,-0.032,2.4948,-4.7177,loss_of_function,-0.619797953639681,0.8967941435263808,,,0.3047,benign,-0.05245368,neutral,0.022086779,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647C,NP_000240:p.Val647Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33314,2.4432,2.0447485868558624,Uncertain,Uncertain,False,0.069,0.59738,,,0.3188,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.1481,2.4948,-22.0054,loss_of_function,-2.28530293114722,0.6911859386513242,,,0.6981,pathogenic,-0.044290673,neutral,0.092586611,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647D,NP_000240:p.Val647Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17521,3.47755,2.3057759743326462,Uncertain,Uncertain,False,0.069,0.87456,,,0.13021,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.2868,2.4948,-22.0054,loss_of_function,-2.57055766137586,0.655970965531159,,,0.6445,pathogenic,0.056661067,neutral,-0.26699561,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647E,NP_000240:p.Val647Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59332,2.31497,1.7442879533231106,Uncertain,Neutral,False,0.069,0.82148,,,0.13846,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.6,-,-0.1574,2.4948,-5.0172,loss_of_function,-1.28419058227988,0.8147742291149793,,,0.5147,ambiguous,0.008753221,neutral,0.076733757,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647F,NP_000240:p.Val647Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08034,1.68435,0.7941359657307142,Neutral,Neutral,False,0.069,-0.04338,,,-0.54099,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.1143,2.4948,-5.7177,loss_of_function,-1.65569407947179,0.768911762059045,,,0.2154,benign,-0.166739276,destabilizing,0.03897424,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647G,NP_000240:p.Val647Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57746,4.44116,3.113182322320581,Uncertain,Uncertain,False,0.069,0.9444,,,0.20317,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.246,2.4948,-22.0054,loss_of_function,-2.07304524905997,0.7173893553773498,,,0.4241,ambiguous,-0.035186118,neutral,-0.364586023,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647H,NP_000240:p.Val647His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44599,2.74218,1.1360830405723126,Uncertain,Neutral,False,0.069,0.35924,,,-0.09683,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.222,2.4948,-8.7175,loss_of_function,-2.52742625931341,0.6612955789496526,,,0.6812,pathogenic,-0.135649337,destabilizing,0.03011814,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647I,NP_000240:p.Val647Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46543,0.97381,-0.1793645678862049,Neutral,Neutral,False,0.069,0.0263,,,-0.11842,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,0.0413,2.4948,-2.9898,gain_of_function,-0.216741128045351,0.9465518995777066,,,0.0708,benign,-0.187055766,destabilizing,-0.16324464,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647K,NP_000240:p.Val647Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31021,2.11633,1.608404829966004,Uncertain,Neutral,False,0.069,0.34602,,,0.24559,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.2153,2.4948,-8.7175,loss_of_function,-3.1404355218187,0.585618990925211,,,0.6017,pathogenic,-0.004362437,neutral,-0.25826664,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647L,NP_000240:p.Val647Leu,"hg19,3:g.37090050G>C, hg38,3:g.37048559G>C",,,0.369,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55531,0.56803,0.1627406564510208,Neutral,Neutral,False,0.069,0.16468,,,0.02554,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,"820368, 479665","Uncertain significance, Uncertain significance","1, 2",87.6,-,-0.0331,2.4948,-4.8108,loss_of_function,-0.552341342390323,0.9051217276124346,,,0.2083,benign,-0.209140109,destabilizing,-0.057612252,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647M,NP_000240:p.Val647Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.11039,1.14966,0.886484820927709,Neutral,Neutral,False,0.069,-0.11312,,,0.05549,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,89952,Conflicting classifications of pathogenicity,1,87.6,-,-0.0452,2.4948,-5.3957,loss_of_function,-1.01496146262045,0.8480108250668619,,,0.1556,benign,-0.073010373,neutral,0.051054602,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647N,NP_000240:p.Val647Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.76239,2.5034,1.5967106031207774,Uncertain,Neutral,False,0.069,0.76358,,,0.20977,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.195,2.4948,-6.3957,loss_of_function,-1.79677552314749,0.7514951209999756,,,0.4061,ambiguous,-0.027848189,neutral,0.154725201,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647P,NP_000240:p.Val647Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24228,5.36701,3.1591259813894847,Uncertain,Uncertain,False,0.069,0.74288,,,0.19203,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.3246,2.4948,-22.0054,loss_of_function,-3.26240169971003,0.5705621479674452,,,0.8825,pathogenic,0.011028611,neutral,-0.916010414,damaging,https://doi.org/10.1101/2022.10.22.513328 +V647Q,NP_000240:p.Val647Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22765,1.55918,1.5516184167495506,Neutral,Neutral,False,0.069,0.61992,,,0.11435,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.6,-,-0.1767,2.4948,-6.7176,loss_of_function,-1.78959795330988,0.7523811989580763,,,0.4942,ambiguous,-0.007062646,neutral,-0.033125164,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647R,NP_000240:p.Val647Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22392,1.4619,1.0509325442288215,Neutral,Neutral,False,0.069,0.2742,,,-0.2569,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.3041,2.4948,-22.0054,loss_of_function,-2.8166395677966,0.6255919155044707,,,0.5127,ambiguous,-0.037224025,neutral,-0.042017953,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647S,NP_000240:p.Val647Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19172,2.73265,1.9694372072648736,Uncertain,Neutral,False,0.069,1.02902,,,0.04429,,,Uncertain,Uncertain,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.1384,2.4948,-5.2582,loss_of_function,-0.580285928728926,0.901671941325002,,,0.2929,benign,-0.013387648,neutral,0.192826623,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647T,NP_000240:p.Val647Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61354,1.7551,1.3106952102056406,Neutral,Neutral,False,0.069,0.58552,,,0.15667,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.6,-,-0.0348,2.4948,-1.5279,loss_of_function,-0.541698448506132,0.9064356031851626,,,0.2319,benign,-0.012505696,neutral,0.058381195,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647W,NP_000240:p.Val647Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.33395,1.32959,0.2878941850733013,Neutral,Neutral,False,0.069,0.30638,,,-0.71762,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.2379,2.4948,-22.0054,loss_of_function,-2.78589318632408,0.6293875861186943,,,0.8686,pathogenic,-0.080931088,neutral,-0.021603059,neutral,https://doi.org/10.1101/2022.10.22.513328 +V647Y,NP_000240:p.Val647Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.89982,1.56497,0.919235207008991,Neutral,Neutral,False,0.069,-0.12722,,,-0.00205,,,Uncertain,Neutral,Uncertain,32.3,,True,32.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.6,-,-0.2408,2.4948,-22.0054,loss_of_function,-2.78589318632408,0.6293875861186943,,,0.6251,pathogenic,-0.117727536,destabilizing,-0.192539567,neutral,https://doi.org/10.1101/2022.10.22.513328 +P648A,NP_000240:p.Pro648Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13834,1.34796,0.0128004373138918,Uncertain,Uncertain,False,0.046,0.19456,,,0.06463,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,525804,Conflicting classifications of pathogenicity,1,88.99,-,-0.248,0.1161,-8.7141,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.6096,pathogenic,-0.071116777,neutral,-0.818093717,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648C,NP_000240:p.Pro648Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71691,2.90034,0.8613913969305176,Uncertain,Uncertain,False,0.046,0.1699,,,0.00709,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.99,-,-0.3485,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.9431,pathogenic,-0.291602487,destabilizing,-0.952691556,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648D,NP_000240:p.Pro648Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.54151,5.19864,2.3039472767187568,Destabilizing,Uncertain,False,0.046,0.2698,,,0.03499,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.99,-,-0.3744,0.1161,-22.002,loss_of_function,-4.64148949553217,0.40031242197237216,,,0.9984,pathogenic,-1.225031333,destabilizing,-1.011980158,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648E,NP_000240:p.Pro648Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.75615,4.5102,2.8269499130939524,Uncertain,Uncertain,False,0.046,0.22572,,,0.07552,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3582,0.1161,-22.002,loss_of_function,-4.64148949553217,0.40031242197237216,,,0.9923,pathogenic,-1.279761178,destabilizing,-1.075175021,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648F,NP_000240:p.Pro648Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.94765,3.78741,2.6730015729679657,Destabilizing,Uncertain,False,0.046,0.27814,,,0.10356,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3091,0.1161,-8.7141,loss_of_function,-4.41767732682033,0.42794225127909746,,,0.9778,pathogenic,-0.964459583,destabilizing,-1.007027512,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648G,NP_000240:p.Pro648Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.70491,3.4966,1.5655741890304102,Destabilizing,Uncertain,False,0.046,0.19312,,,-0.01611,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.99,-,-0.3301,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.9697,pathogenic,-0.717605225,destabilizing,-0.968421505,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648H,NP_000240:p.Pro648His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.86925,6.3119,2.846329900516825,Destabilizing,Uncertain,False,0.046,0.39414,,,0.13061,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1783088,Likely pathogenic,1,88.99,-,-0.3545,0.1161,-22.002,loss_of_function,-4.74716992130948,0.3872660709089116,,,0.9739,pathogenic,-1.016397234,destabilizing,-0.995968948,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648I,NP_000240:p.Pro648Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.88653,4.11905,0.7470628198396142,Destabilizing,Uncertain,False,0.046,0.17736,,,0.16898,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.287,0.1161,-7.7142,loss_of_function,-2.96149595665091,0.607709253801718,,,0.8783,pathogenic,-0.674824798,destabilizing,-0.965982019,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648K,NP_000240:p.Pro648Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.00913,9.77823,4.412511551010787,Destabilizing,Destabilizing,False,0.046,-0.12176,,,0.2867,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3499,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.9947,pathogenic,-1.25034475,destabilizing,-0.980606778,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648L,NP_000240:p.Pro648Leu,"hg19,3:g.37090054C>T, hg38,3:g.37048563C>T",,,0.942,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.72748,5.03095,1.09956571508903,Destabilizing,Uncertain,False,0.046,0.1413,,,0.43156,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,89953,Likely pathogenic,3,88.99,-,-0.3645,0.1161,-22.002,loss_of_function,-2.97454232242382,0.606098667293159,,,0.6859,pathogenic,-0.788401125,destabilizing,-1.00227734,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648M,NP_000240:p.Pro648Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4111,1.61156,1.45870092526051,Neutral,Neutral,False,0.046,-0.1687,,,0.0251,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3155,0.1161,-22.002,loss_of_function,-4.14702414267151,0.46135464937341963,,,0.9287,pathogenic,-0.304346463,destabilizing,-0.938812417,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648N,NP_000240:p.Pro648Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.06575,3.62585,1.399139202430268,Destabilizing,Uncertain,False,0.046,0.19114,,,0.0058,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.99,-,-0.3425,0.1161,-22.002,loss_of_function,-4.64148949553217,0.40031242197237216,,,0.9954,pathogenic,-1.134553417,destabilizing,-0.922834619,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648Q,NP_000240:p.Pro648Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.0891,3.33776,1.959910492043217,Destabilizing,Uncertain,False,0.046,0.07882,,,0.21932,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3442,0.1161,-22.002,loss_of_function,-4.64148949553217,0.40031242197237216,,,0.9719,pathogenic,-0.874625682,destabilizing,-1.145003509,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648R,NP_000240:p.Pro648Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.11458,12.05476,3.746951762636972,Destabilizing,Destabilizing,False,0.046,1.28544,,,0.54762,,,,Uncertain,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,479696,Likely pathogenic,2,88.99,-,-0.3856,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.9836,pathogenic,-1.281371731,destabilizing,-1.037248836,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648S,NP_000240:p.Pro648Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.60404,3.16939,1.024112548031949,Destabilizing,Uncertain,False,0.046,0.18282,,,0.01115,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,17097,Pathogenic,3,88.99,-,-0.3155,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.916,pathogenic,-0.935006125,destabilizing,-0.977115083,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648T,NP_000240:p.Pro648Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.73043,2.86531,0.7316884936381279,Uncertain,Uncertain,False,0.046,0.18282,,,0.13717,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,1783072,Likely pathogenic,1,88.99,-,-0.3276,0.1161,-22.002,loss_of_function,-4.92783180245063,0.3649631864549895,,,0.8676,pathogenic,-0.784457745,destabilizing,-1.113166192,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648V,NP_000240:p.Pro648Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.44463,2.06769,0.120907331585473,Uncertain,Uncertain,False,0.046,0.19994,,,0.16707,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.2475,0.1161,-8.7141,loss_of_function,-2.9579795834155,0.6081433534882199,,,0.7852,pathogenic,-0.381306034,destabilizing,-1.055669873,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648W,NP_000240:p.Pro648Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.40746,10.74558,3.816481911680163,Destabilizing,Destabilizing,False,0.046,0.49342,,,0.73045,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3894,0.1161,-22.002,loss_of_function,-4.74716992130948,0.3872660709089116,,,0.9961,pathogenic,-1.187021086,destabilizing,-1.007399139,damaging,https://doi.org/10.1101/2022.10.22.513328 +P648Y,NP_000240:p.Pro648Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.89786,6.72109,3.3594744017707425,Destabilizing,Destabilizing,False,0.046,0.54994,,,0.55673,,,,Neutral,,0.4,,True,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.99,-,-0.3779,0.1161,-22.002,loss_of_function,-4.74716992130948,0.3872660709089116,,,0.9896,pathogenic,-1.122616082,destabilizing,-1.056268722,damaging,https://doi.org/10.1101/2022.10.22.513328 +P649A,NP_000240:p.Pro649Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09791,1.1449,0.1750351006867107,Uncertain,Uncertain,False,0.023,-0.001,,,-0.04359,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.84,-,0.0333,2.9099,-3.9628,gain_of_function,-0.521582524348901,0.9089189335331516,,,0.0713,benign,-0.006200337,neutral,0.030777915,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649C,NP_000240:p.Pro649Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77505,1.8602,0.8828261540940202,Neutral,Neutral,False,0.023,-0.02978,,,0.00401,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.84,-,-0.0083,2.9099,-5.7177,loss_of_function,-1.36524920984694,0.8047674629216771,,,0.2749,benign,0.016882097,neutral,-0.057389222,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649D,NP_000240:p.Pro649Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.24487,2.58401,1.4489873738698726,Uncertain,Uncertain,False,0.023,0.12764,,,0.01789,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.84,-,-0.0258,2.9099,-4.0738,loss_of_function,-0.92669914463473,0.85890689382933,,,0.4235,ambiguous,-0.120475686,destabilizing,-0.392609517,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649E,NP_000240:p.Pro649Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73796,3.80782,1.3909443438679354,Uncertain,Neutral,False,0.023,0.19594,,,0.01212,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0215,2.9099,-6.3957,loss_of_function,-1.16303245981572,0.8297313168465141,,,0.2498,benign,0.031098406,neutral,-0.004724681,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649F,NP_000240:p.Pro649Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.61627,6.33741,-0.7388729813208456,Destabilizing,Uncertain,False,0.023,-0.03332,,,0.08872,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0326,2.9099,-4.9103,loss_of_function,-1.44958091419394,0.7943566322252782,,,0.3605,ambiguous,-0.096100342,destabilizing,-0.258322087,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649G,NP_000240:p.Pro649Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18908,3.36088,1.415596156979091,Uncertain,Uncertain,False,0.023,0.07272,,,-0.03414,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,86.84,-,-0.0731,2.9099,-22.0054,loss_of_function,-3.09150940152624,0.5916589679295956,,,0.2872,benign,0.029797798,neutral,-0.580770742,damaging,https://doi.org/10.1101/2022.10.22.513328 +P649H,NP_000240:p.Pro649His,"hg19,3:g.37090057C>A",,,0.559,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.1051,6.2466,0.0192169050972512,Destabilizing,Uncertain,False,0.023,0.08992,,,-0.07145,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0975,2.9099,-22.0054,loss_of_function,-2.04926085221482,0.7203255622367766,,,0.1595,benign,0.005485906,neutral,-0.190806843,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649I,NP_000240:p.Pro649Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.8364,1.00102,0.1163882919651215,Uncertain,Uncertain,False,0.023,-0.04244,,,0.12004,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0134,2.9099,-4.4697,loss_of_function,-0.563390044484424,0.9037577546225927,,,0.2282,benign,0.047807996,neutral,-0.088126193,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649K,NP_000240:p.Pro649Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.99399,3.65816,1.0896750491039933,Destabilizing,Uncertain,False,0.023,-0.32294,,,-0.07372,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0928,2.9099,-22.0054,loss_of_function,-2.11424238952614,0.7123035284289901,,,0.2965,benign,0.009647443,neutral,-0.158122854,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649L,NP_000240:p.Pro649Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4423,-0.02313,-0.3792476269875838,Neutral,Neutral,False,0.023,0.0391,,,0.00774,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1058901,Uncertain significance,2,86.84,-,-0.0244,2.9099,-5.7177,loss_of_function,-0.409285512686166,0.9227821085417076,,,0.0969,benign,-0.019446055,neutral,-0.065349793,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649M,NP_000240:p.Pro649Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6017,0.62007,-0.087944350826008,Neutral,Neutral,False,0.023,0.03124,,,0.00092,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0584,2.9099,-22.0054,loss_of_function,-2.23173578297086,0.6977988550493885,,,0.2424,benign,-0.025004528,neutral,-0.028242286,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649N,NP_000240:p.Pro649Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33391,1.63299,0.8025321343890729,Uncertain,Uncertain,False,0.023,0.06954,,,-0.08465,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.84,-,0.0144,2.9099,-2.4323,gain_of_function,-0.871798215711641,0.865684466754235,,,0.276,benign,-0.078272486,neutral,-0.15859798,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649Q,NP_000240:p.Pro649Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73702,2.20544,0.5871761566627154,Uncertain,Uncertain,False,0.023,0.01752,,,0.00797,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0113,2.9099,-7.1327,loss_of_function,-1.43835042464118,0.7957430470532103,,,0.1362,benign,-0.021660361,neutral,-0.14699945,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649R,NP_000240:p.Pro649Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.15637,3.42857,0.4893335840779211,Destabilizing,Uncertain,False,0.023,-0.29554,,,-0.00245,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0608,2.9099,-8.7175,loss_of_function,-1.07467569926253,0.8406390446355381,,,0.1655,benign,-0.00081808,neutral,-0.00181514,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649S,NP_000240:p.Pro649Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52137,1.22823,0.8382746522627071,Neutral,Neutral,False,0.023,-0.0628,,,-0.0889,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,568133,Uncertain significance,2,86.84,-,0.0401,2.9099,-2.6953,gain_of_function,-0.463335694543488,0.9161095611672257,,,0.104,benign,0.028201599,neutral,-0.062068518,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649T,NP_000240:p.Pro649Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73225,1.7602,0.7756863288568929,Uncertain,Uncertain,False,0.023,-0.036,,,-0.09367,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.84,-,0.0104,2.9099,-6.1327,gain_of_function,-1.93011239877811,0.7350345543776604,,,0.1057,benign,0.001380653,neutral,-0.420574905,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649V,NP_000240:p.Pro649Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52966,1.59626,0.1064491425398117,Neutral,Neutral,False,0.023,-0.0709,,,-0.01109,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,0.029,2.9099,-4.9103,gain_of_function,-0.555116787387368,0.9047790962355978,,,0.1506,benign,0.033208397,neutral,-0.10160645,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649W,NP_000240:p.Pro649Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),15.92718,7.4983,-0.763970081601657,Destabilizing,Uncertain,False,0.023,-0.00374,,,0.23668,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.1324,2.9099,-22.0054,loss_of_function,-2.50510688677252,0.6640509271377666,,,0.5299,ambiguous,-0.049805716,neutral,-0.26626066,neutral,https://doi.org/10.1101/2022.10.22.513328 +P649Y,NP_000240:p.Pro649Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.60128,5.18231,-0.3718666145523031,Destabilizing,Uncertain,False,0.023,-0.00186,,,0.17294,,,,Neutral,,2.4,,True,2.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.84,-,-0.0479,2.9099,-7.7176,loss_of_function,-1.43373761235408,0.7963125032040982,,,0.3385,benign,-0.035699932,neutral,-0.113386951,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650A,NP_000240:p.Leu650Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.65582,1.9898,2.798253138242154,Neutral,Uncertain,False,0.015,1.35026,,,0.80767,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.1942,1.6109,-7.1327,loss_of_function,-2.39056037232773,0.6781918054465985,,,0.5461,ambiguous,-0.146159701,destabilizing,-0.207695335,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650C,NP_000240:p.Leu650Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6884,1.35986,2.97346584922003,Neutral,Uncertain,False,0.015,1.07414,,,0.81425,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.2593,1.6109,-22.0054,loss_of_function,-3.33522128322447,0.5615724997536286,,,0.8239,pathogenic,-0.016262489,neutral,-0.218664675,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650D,NP_000240:p.Leu650Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87645,2.05306,3.5139620708491126,Uncertain,Uncertain,False,0.015,1.99454,,,0.98145,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.3916,1.6109,-22.0054,loss_of_function,-3.4789800084726,0.5438253456877017,,,0.9722,pathogenic,-0.090380041,destabilizing,-0.807093846,damaging,https://doi.org/10.1101/2022.10.22.513328 +L650E,NP_000240:p.Leu650Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12815,1.59762,2.9699121062163893,Neutral,Uncertain,False,0.015,1.18998,,,0.73884,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.2868,1.6109,-7.7176,loss_of_function,-2.1657294912481,0.705947395783194,,,0.8226,pathogenic,-0.086866135,destabilizing,-0.332423481,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650F,NP_000240:p.Leu650Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.96887,0.54354,0.4924871910008127,Neutral,Neutral,False,0.015,0.20046,,,0.40597,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.36,G,-0.1255,1.6109,-6.7176,loss_of_function,-1.98184273099464,0.7286483946913962,,,0.2977,benign,0.012281121,neutral,0.0733716,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650G,NP_000240:p.Leu650Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05159,2.72619,3.930139122592672,Uncertain,Uncertain,False,0.015,1.77572,,,1.00496,,,Uncertain,Destabilizing,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.3449,1.6109,-22.0054,loss_of_function,-3.910256184217,0.4905838834899196,,,0.8596,pathogenic,-0.115048914,destabilizing,-0.623672044,damaging,https://doi.org/10.1101/2022.10.22.513328 +L650H,NP_000240:p.Leu650His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85547,1.36497,1.8703322645968616,Neutral,Neutral,False,0.015,0.72516,,,0.28299,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.3125,1.6109,-22.0054,loss_of_function,-3.2118790290778,0.576799220659796,,,0.7721,pathogenic,-0.00772895,neutral,-0.350118391,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650I,NP_000240:p.Leu650Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.89813,1.21429,0.7662836109660082,Neutral,Neutral,False,0.015,-0.0844,,,0.01379,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.36,G,-0.0547,1.6109,-4.4697,loss_of_function,-1.38627769562909,0.8021714759559828,,,0.168,benign,-0.17578073,destabilizing,-0.13224618,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650K,NP_000240:p.Leu650Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96076,1.62381,3.05674665420584,Neutral,Uncertain,False,0.015,1.10428,,,0.88755,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.36,G,-0.3587,1.6109,-22.0054,loss_of_function,-3.910256184217,0.4905838834899196,,,0.8175,pathogenic,-0.037102416,neutral,-0.096635659,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650M,NP_000240:p.Leu650Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.69684,0.0619,1.0175096510872137,Neutral,Neutral,False,0.015,0.29372,,,0.07407,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.36,G,-0.0652,1.6109,-1.9628,loss_of_function,-0.357086096073395,0.9292261771516607,,,0.1088,benign,-0.041193178,neutral,0.156911456,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650N,NP_000240:p.Leu650Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.61669,1.58435,2.537114487616375,Neutral,Uncertain,False,0.015,1.35338,,,0.82636,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.3379,1.6109,-22.0054,loss_of_function,-3.4789800084726,0.5438253456877017,,,0.9001,pathogenic,-0.090744176,destabilizing,-0.491882505,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650P,NP_000240:p.Leu650Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70957,1.0619,5.725521673176434,Neutral,Uncertain,False,0.015,1.09684,,,1.07697,,,Uncertain,Destabilizing,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.2725,1.6109,-6.1327,loss_of_function,-1.95040207230222,0.7325297745018078,,,0.6516,pathogenic,-0.079335203,neutral,-0.212358509,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650Q,NP_000240:p.Leu650Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09691,0.86905,2.2688463077752434,Neutral,Uncertain,False,0.015,1.29048,,,0.6887,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.223,1.6109,-8.7175,loss_of_function,-2.94571419815081,0.6096575271955528,,,0.5941,pathogenic,-0.128992156,destabilizing,-0.115249054,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650R,NP_000240:p.Leu650Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26414,1.15034,2.303217143593844,Neutral,Uncertain,False,0.015,0.98152,,,0.32287,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.36,G,-0.3503,1.6109,-22.0054,loss_of_function,-3.910256184217,0.4905838834899196,,,0.73,pathogenic,-0.073872797,neutral,0.093573792,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650S,NP_000240:p.Leu650Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.03441,1.83367,3.4554398441217846,Uncertain,Uncertain,False,0.015,1.72288,,,0.78773,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,525786,Uncertain significance,1,88.36,G,-0.2327,1.6109,-8.7175,loss_of_function,-3.33522128322447,0.5615724997536286,,,0.7142,pathogenic,-0.069364935,neutral,-0.163536159,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650T,NP_000240:p.Leu650Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05265,1.69456,2.441246754859509,Uncertain,Uncertain,False,0.015,1.2538,,,0.75643,,,Uncertain,Uncertain,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.2003,1.6109,-7.7176,loss_of_function,-2.26117904559854,0.6941640557204777,,,0.51,ambiguous,-0.213864324,destabilizing,-0.236971475,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650V,NP_000240:p.Leu650Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.98568,1.30306,1.1774026095893548,Neutral,Neutral,False,0.015,0.50676,,,0.47884,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.36,G,-0.0957,1.6109,-5.3957,loss_of_function,-0.381431686883288,0.9262206903529747,,,0.151,benign,-0.034212071,neutral,-0.131069277,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650W,NP_000240:p.Leu650Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52191,-0.32789,0.8824944738824014,Neutral,Neutral,False,0.015,-0.61874,,,0.65729,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.36,G,-0.2298,1.6109,-7.7176,loss_of_function,-3.2118790290778,0.576799220659796,,,0.5487,ambiguous,-0.062562572,neutral,-0.004709823,neutral,https://doi.org/10.1101/2022.10.22.513328 +L650Y,NP_000240:p.Leu650Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28909,0.4398,1.1099788542360147,Neutral,Neutral,False,0.015,0.54636,,,0.84216,,,Uncertain,Neutral,Uncertain,48.0,,False,48.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.36,G,-0.2956,1.6109,-22.0054,loss_of_function,-2.65311740042964,0.6457788856688675,,,0.7661,pathogenic,-0.044167584,neutral,-0.20924074,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651A,NP_000240:p.Glu651Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93324,-0.26293,0.2615887873820893,Neutral,Neutral,False,0.008,0.53988,,,1.52934,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,0.0127,2.5588,-3.0453,gain_of_function,-1.82160548194793,0.7484298385030598,,,0.2242,benign,-0.091134801,destabilizing,-0.067551445,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651C,NP_000240:p.Glu651Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.3978,0.71769,1.0879062170072362,Neutral,Neutral,False,0.008,0.88742,,,1.94239,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.1534,2.5588,-22.0054,loss_of_function,-3.20450766594904,0.5777092225876526,,,0.8738,pathogenic,0.003567684,neutral,-0.099212543,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651D,NP_000240:p.Glu651Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53039,0.04626,0.2424310250120315,Neutral,Neutral,False,0.008,1.86112,,,1.61191,,,Uncertain,Destabilizing,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,0.0498,2.5588,-2.5082,gain_of_function,-1.19377463148361,0.8259361659367553,,,0.2872,benign,-0.107257235,destabilizing,0.086836144,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651F,NP_000240:p.Glu651Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1756,0.1483,0.1176802298047052,Neutral,Neutral,False,0.008,1.28082,,,0.47077,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.131,2.5588,-22.0054,loss_of_function,-3.25886656270483,0.570998564059527,,,0.9097,pathogenic,-0.078934548,neutral,-0.401948417,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651G,NP_000240:p.Glu651Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56426,0.7966,1.30259669640038,Neutral,Neutral,False,0.008,1.43616,,,1.91724,,,Uncertain,Destabilizing,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.0183,2.5588,-4.0738,loss_of_function,-2.0112592682027,0.7250168946414588,,,0.2638,benign,-0.126264414,destabilizing,0.012744316,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651H,NP_000240:p.Glu651His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51049,0.1449,0.0449334311374466,Neutral,Neutral,False,0.008,1.4835,,,1.12717,,,Uncertain,Destabilizing,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0345,2.5588,-4.8108,loss_of_function,-1.52662508349128,0.7848454547990646,,,0.6711,pathogenic,-0.069696989,neutral,-0.254225819,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651I,NP_000240:p.Glu651Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97564,0.17041,-0.0754681854456884,Neutral,Neutral,False,0.008,0.02476,,,1.72043,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.1363,2.5588,-22.0054,loss_of_function,-3.36728837867579,0.5576137857177391,,,0.6769,pathogenic,-0.107359927,destabilizing,-0.100773,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651K,NP_000240:p.Glu651Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93198,-0.0415,0.1201177044549195,Neutral,Neutral,False,0.008,0.67738,,,1.64093,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0331,2.5588,-7.7176,loss_of_function,-2.18316246151558,0.7037952786951378,,,0.3972,ambiguous,-0.091480289,destabilizing,-0.010709366,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651L,NP_000240:p.Glu651Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79191,-0.30816,-0.1502973243879385,Neutral,Neutral,False,0.008,-0.26272,,,0.33892,,,Uncertain,Neutral,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0588,2.5588,-6.3957,loss_of_function,-1.77066090609929,0.7547189958035895,,,0.6968,pathogenic,-0.039972505,neutral,-0.17713236,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651M,NP_000240:p.Glu651Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57845,0.07041,0.1986679255336387,Neutral,Neutral,False,0.008,-0.47194,,,0.75443,,,Uncertain,Neutral,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0873,2.5588,-22.0054,loss_of_function,-3.36728837867579,0.5576137857177391,,,0.7332,pathogenic,-0.042479059,neutral,-0.102413904,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651N,NP_000240:p.Glu651Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23622,-0.42517,0.4082411702558403,Neutral,Neutral,False,0.008,1.05772,,,2.07728,,,Uncertain,Destabilizing,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.022,2.5588,-4.7177,loss_of_function,-0.845052533896769,0.8689862471153749,,,0.5351,ambiguous,-0.074402397,neutral,-0.012363231,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651P,NP_000240:p.Glu651Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32085,1.02755,2.1840236599610727,Neutral,Uncertain,False,0.008,0.2322,,,1.34568,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.241,2.5588,-22.0054,loss_of_function,-4.09504184369805,0.4677719146002137,,,0.7728,pathogenic,-0.089654685,destabilizing,-0.138044043,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651Q,NP_000240:p.Glu651Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.7818,0.05918,0.3169317983446218,Neutral,Neutral,False,0.008,0.64642,,,1.49886,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,0.0164,2.5588,-7.7176,gain_of_function,-0.401836729091852,0.9237016681011282,,,0.2373,benign,-0.112225432,destabilizing,-0.104404418,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651R,NP_000240:p.Glu651Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71625,-0.37687,0.037617152176691,Neutral,Neutral,False,0.008,0.44162,,,1.39131,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0936,2.5588,-7.7176,loss_of_function,-2.64256854423355,0.6470811521977908,,,0.5047,ambiguous,-0.077946907,neutral,-0.060038534,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651S,NP_000240:p.Glu651Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42585,0.26463,0.5378481245172156,Neutral,Neutral,False,0.008,1.50794,,,2.07612,,,Uncertain,Destabilizing,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.0063,2.5588,-4.1327,loss_of_function,-1.8657737273156,0.7429772257728846,,,0.3284,benign,-0.032803793,neutral,-0.069862565,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651T,NP_000240:p.Glu651Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4093,0.34864,0.3401365923960742,Neutral,Neutral,False,0.008,0.24932,,,1.83081,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,85.98,G,-0.0324,2.5588,-6.1327,loss_of_function,-1.89054884126845,0.7399187139255988,,,0.4472,ambiguous,-0.077065612,neutral,0.008242504,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651V,NP_000240:p.Glu651Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37865,0.17483,0.0359581103517336,Neutral,Neutral,False,0.008,-0.0447,,,1.31413,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,-,-,uncertain,neutral,1049423,Uncertain significance,0,85.98,G,-0.0141,2.5588,-5.7177,loss_of_function,-2.30754480573497,0.6884401576606919,,,0.4223,ambiguous,-0.038911654,neutral,-0.088569705,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651W,NP_000240:p.Glu651Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96396,-0.02551,-0.3536070536273011,Neutral,Neutral,False,0.008,3.0713,,,0.93467,,,Uncertain,Uncertain,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.0733,2.5588,-8.7175,loss_of_function,-3.25886656270483,0.570998564059527,,,0.955,pathogenic,-0.09110661,destabilizing,-0.452239803,neutral,https://doi.org/10.1101/2022.10.22.513328 +E651Y,NP_000240:p.Glu651Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24594,-0.00238,0.1213045458755918,Neutral,Neutral,False,0.008,0.4222,,,0.73906,,,Uncertain,Neutral,Uncertain,71.4,,False,71.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,85.98,G,-0.1318,2.5588,-22.0054,loss_of_function,-3.25886656270483,0.570998564059527,,,0.8259,pathogenic,-0.180257927,destabilizing,-0.458762554,neutral,https://doi.org/10.1101/2022.10.22.513328 +G652A,NP_000240:p.Gly652Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52232,-1.51429,0.1810996671271314,Neutral,Neutral,False,0.021,0.0378,,,0.04941,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.102,2.0451,-3.9103,loss_of_function,-1.82686318471102,0.7477807699974205,,,0.282,benign,0.025759317,neutral,0.055502691,neutral,https://doi.org/10.1101/2022.10.22.513328 +G652C,NP_000240:p.Gly652Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.57782,-0.08401,0.9128494539115972,Neutral,Neutral,False,0.021,0.0386,,,0.00819,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.254,2.0451,-22.0054,loss_of_function,-3.26525003745228,0.570210517910513,,,0.5094,ambiguous,0.04912996,neutral,-0.722187695,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652D,NP_000240:p.Gly652Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.5463,1.06633,1.97901059841484,Uncertain,Uncertain,False,0.021,-0.0875,,,0.19728,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.1868,2.0451,-8.7175,loss_of_function,-3.18835123305737,0.5797037498985297,,,0.7861,pathogenic,0.310701635,stabilizing,-0.449057855,neutral,https://doi.org/10.1101/2022.10.22.513328 +G652E,NP_000240:p.Gly652Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.02999,2.57891,1.9117166025305523,Uncertain,Uncertain,False,0.021,-0.0626,,,0.17728,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,661526,Uncertain significance,1,88.3,G,-0.1759,2.0451,-6.7176,loss_of_function,-2.16368398870414,0.7061999150562138,,,0.7247,pathogenic,0.098432229,neutral,-0.832413444,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652F,NP_000240:p.Gly652Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.44248,-0.24184,-0.5543739555133875,Uncertain,Uncertain,False,0.021,0.07896,,,-0.96463,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2922,2.0451,-22.0054,loss_of_function,-3.20350939434811,0.577832460185028,,,0.8544,pathogenic,0.11713504,stabilizing,-1.071298555,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652H,NP_000240:p.Gly652His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.4973,1.20918,0.0051633222704228,Uncertain,Uncertain,False,0.021,0.02622,,,-0.14018,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2669,2.0451,-22.0054,loss_of_function,-2.57025186900628,0.6560087158957769,,,0.8633,pathogenic,0.152484924,stabilizing,-0.873938238,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652I,NP_000240:p.Gly652Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.91268,0.31122,1.295263916104349,Uncertain,Uncertain,False,0.021,0.04712,,,-0.10094,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.3378,2.0451,-22.0054,loss_of_function,-3.75080370276858,0.5102684469804147,,,0.7479,pathogenic,-0.09443797,destabilizing,-1.018164061,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652K,NP_000240:p.Gly652Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.28713,3.22891,1.1179722610701028,Destabilizing,Uncertain,False,0.021,0.0591,,,0.02548,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.1827,2.0451,-1.5987,loss_of_function,-1.3261250281067,0.8095973811047225,,,0.8966,pathogenic,-0.020941334,neutral,-0.937497561,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652L,NP_000240:p.Gly652Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.21881,3.51361,0.0658295556652821,Uncertain,Uncertain,False,0.021,0.04946,,,-0.02363,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.228,2.0451,-6.7176,loss_of_function,-2.66104653853958,0.6448000258785889,,,0.8183,pathogenic,0.018559473,neutral,-0.963735689,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652M,NP_000240:p.Gly652Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47336,-0.10952,0.0828910779163571,Neutral,Neutral,False,0.021,0.03074,,,0.03186,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2443,2.0451,-22.0054,loss_of_function,-3.23557464118325,0.5738739743625989,,,0.7931,pathogenic,0.00324669,neutral,-0.972354561,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652N,NP_000240:p.Gly652Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.73648,-0.11667,0.6319925713759741,Neutral,Neutral,False,0.021,0.04474,,,0.03671,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.1676,2.0451,-4.9103,loss_of_function,-2.4153581019907,0.675130501667963,,,0.6928,pathogenic,0.103837849,neutral,-0.648297512,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652P,NP_000240:p.Gly652Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.72414,4.97211,6.133208768150687,Destabilizing,Destabilizing,False,0.021,0.28972,,,0.71216,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.352,2.0451,-22.0054,loss_of_function,-4.27910882650513,0.4450486670429663,,,0.984,pathogenic,0.172268239,stabilizing,-0.469488501,neutral,https://doi.org/10.1101/2022.10.22.513328 +G652Q,NP_000240:p.Gly652Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53501,0.27687,0.7807897452099727,Uncertain,Uncertain,False,0.021,0.03966,,,-0.06717,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.1819,2.0451,-7.1327,loss_of_function,-2.22315802581238,0.6988577874903162,,,0.8147,pathogenic,0.144916624,stabilizing,-0.766257777,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652R,NP_000240:p.Gly652Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73205,0.94014,0.225750322891462,Uncertain,Uncertain,False,0.021,0.07724,,,0.14534,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,1783281,Uncertain significance,1,88.3,G,-0.1799,2.0451,-4.1941,loss_of_function,-1.70649219057575,0.7626406859733047,,,0.8473,pathogenic,-0.038657686,neutral,-0.788458224,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652S,NP_000240:p.Gly652Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27855,-0.0534,1.1130389442648885,Neutral,Neutral,False,0.021,0.02032,,,0.04596,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.1192,2.0451,-6.1327,loss_of_function,-2.04764437396007,0.7205251180451754,,,0.2984,benign,0.088251569,neutral,-0.431310459,neutral,https://doi.org/10.1101/2022.10.22.513328 +G652T,NP_000240:p.Gly652Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.09886,1.14014,1.2004308410289204,Uncertain,Uncertain,False,0.021,0.01012,,,-0.05293,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2771,2.0451,-22.0054,loss_of_function,-3.26525003745228,0.570210517910513,,,0.6035,pathogenic,0.103479454,neutral,-0.936885504,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652V,NP_000240:p.Gly652Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.23519,1.87109,0.7509874322566564,Uncertain,Uncertain,False,0.021,0.04414,,,0.33518,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2811,2.0451,-22.0054,loss_of_function,-3.75080370276858,0.5102684469804147,,,0.5962,pathogenic,0.059661834,neutral,-0.996518489,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652W,NP_000240:p.Gly652Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.49437,2.64048,-0.1867687834569148,Uncertain,Uncertain,False,0.021,-0.00462,,,-0.11383,,,,Neutral,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2919,2.0451,-22.0054,loss_of_function,-3.55361057655821,0.5346121296720693,,,0.8297,pathogenic,0.030105584,neutral,-0.999071688,damaging,https://doi.org/10.1101/2022.10.22.513328 +G652Y,NP_000240:p.Gly652Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.75431,0.16531,-0.2062267693491593,Uncertain,Uncertain,False,0.021,0.0577,,,-1.13714,,,,Uncertain,,3.3,,False,3.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.3,G,-0.2145,2.0451,-6.7176,loss_of_function,-2.4066898555082,0.676200605103708,,,0.7371,pathogenic,0.173066178,stabilizing,-0.812592614,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653A,NP_000240:p.Leu653Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73808,3.24966,3.5929750255217927,Destabilizing,Destabilizing,False,0.054,0.19062,,,0.198,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.3885,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.8611,pathogenic,-0.070712606,neutral,-0.515258344,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653C,NP_000240:p.Leu653Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53827,6.08537,3.701969992853362,Destabilizing,Destabilizing,False,0.054,0.30294,,,0.35565,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.3777,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.8902,pathogenic,-0.145738035,destabilizing,-0.691055441,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653D,NP_000240:p.Leu653Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.16461,7.11735,4.687566197058915,Destabilizing,Destabilizing,False,0.054,0.23522,,,0.40144,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.51,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9989,pathogenic,-1.23142603,destabilizing,-1.008163042,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653E,NP_000240:p.Leu653Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.36467,6.14014,4.172325773130304,Destabilizing,Destabilizing,False,0.054,0.5538,,,0.22905,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4781,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9915,pathogenic,-1.299861515,destabilizing,-1.065992749,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653F,NP_000240:p.Leu653Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88757,5.66497,1.751395297606117,Uncertain,Uncertain,False,0.054,0.58448,,,-0.49779,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.2542,0.3238,-8.7175,loss_of_function,-3.17969934884394,0.580771833396288,,,0.4972,ambiguous,0.04453454,neutral,-1.083184279,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653G,NP_000240:p.Leu653Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.38521,7.19898,5.5861858339194015,Destabilizing,Destabilizing,False,0.054,0.48858,,,0.42424,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4634,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9772,pathogenic,-1.225390626,destabilizing,-1.047428752,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653H,NP_000240:p.Leu653His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.19139,6.66565,3.118250835305829,Destabilizing,Destabilizing,False,0.054,0.60684,,,0.06032,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4309,0.3238,-22.0054,loss_of_function,-4.33832587440793,0.43773826504373853,,,0.974,pathogenic,-1.336960426,destabilizing,-1.022997803,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653I,NP_000240:p.Leu653Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71231,3.88639,1.238471430878634,Uncertain,Uncertain,False,0.054,-0.08864,,,0.1694,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.94,H,-0.1816,0.3238,-6.1327,loss_of_function,-1.43989709644537,0.7955521089188395,,,0.1449,benign,0.010947886,neutral,-0.291543038,neutral,https://doi.org/10.1101/2022.10.22.513328 +L653K,NP_000240:p.Leu653Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05391,6.29184,5.529892562085155,Destabilizing,Destabilizing,False,0.054,1.2699,,,0.10071,,,,Uncertain,,7.0,,False,7.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.94,H,-0.4771,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9879,pathogenic,-1.283002466,destabilizing,-1.099137585,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653M,NP_000240:p.Leu653Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45163,5.07619,1.5658987078784332,Uncertain,Neutral,False,0.054,-0.5048,,,-0.0363,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.94,H,-0.213,0.3238,-7.7176,loss_of_function,-3.08838555892957,0.5920446093280229,,,0.2178,benign,-0.069499136,neutral,-0.031372439,neutral,https://doi.org/10.1101/2022.10.22.513328 +L653N,NP_000240:p.Leu653Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.30632,6.07381,3.500676243520921,Destabilizing,Destabilizing,False,0.054,0.4465,,,0.3239,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4563,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9864,pathogenic,-1.286625036,destabilizing,-1.024186165,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653P,NP_000240:p.Leu653Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.92987,17.36565,9.399373192682106,Destabilizing,Destabilizing,False,0.054,1.94588,,,0.70517,,,,Uncertain,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,216336,Likely pathogenic,1,91.94,H,-0.4719,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9934,pathogenic,-1.202918627,destabilizing,-1.015865178,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653Q,NP_000240:p.Leu653Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99219,5.32415,3.162165974115194,Uncertain,Uncertain,False,0.054,0.39238,,,0.20554,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4093,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9534,pathogenic,-1.224090763,destabilizing,-1.055309694,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653R,NP_000240:p.Leu653Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25536,5.01735,4.2736168026005785,Destabilizing,Destabilizing,False,0.054,1.21876,,,0.75666,,,,Uncertain,,7.0,,False,7.0,,neutral,neutral,neutral,UP,-,neutral,neutral,89957,Likely pathogenic,3,91.94,H,-0.4687,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9781,pathogenic,-1.107776362,destabilizing,-1.070443261,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653S,NP_000240:p.Leu653Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.22079,7.26939,4.479322433131601,Destabilizing,Destabilizing,False,0.054,-0.01458,,,0.3721,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.4189,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.9506,pathogenic,-0.949134595,destabilizing,-0.977048984,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653T,NP_000240:p.Leu653Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.4752,5.55238,3.403304470929505,Destabilizing,Destabilizing,False,0.054,-0.11846,,,0.39403,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.94,H,-0.3916,0.3238,-22.0054,loss_of_function,-4.87390683788299,0.3716202756336096,,,0.8287,pathogenic,-0.25117112,destabilizing,-0.669000719,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653V,NP_000240:p.Leu653Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.03361,4.27007,1.7414843035786614,Destabilizing,Uncertain,False,0.054,0.05982,,,0.3743,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1379174,Uncertain significance,1,91.94,H,-0.2149,0.3238,-5.5477,loss_of_function,-1.46211569091634,0.7928092018812037,,,0.1751,benign,-0.079252496,neutral,-0.420197829,neutral,https://doi.org/10.1101/2022.10.22.513328 +L653W,NP_000240:p.Leu653Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.86748,5.09864,3.3980249086779684,Destabilizing,Destabilizing,False,0.054,2.86724,,,0.29577,,,,Uncertain,,7.0,,False,7.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.4211,0.3238,-22.0054,loss_of_function,-4.33832587440793,0.43773826504373853,,,0.8898,pathogenic,-0.392787958,destabilizing,-0.889211896,damaging,https://doi.org/10.1101/2022.10.22.513328 +L653Y,NP_000240:p.Leu653Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.83063,7.08163,3.1009017088852007,Destabilizing,Destabilizing,False,0.054,0.38388,,,-0.06483,,,,Neutral,,7.0,,False,7.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.414,0.3238,-22.0054,loss_of_function,-4.33832587440793,0.43773826504373853,,,0.9375,pathogenic,-0.888848316,destabilizing,-0.923512841,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654A,NP_000240:p.Pro654Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.88163,0.15272,-0.2850353490531415,Neutral,Neutral,False,0.076,0.71062,,,0.42608,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.89,H,-0.2434,0.1112,-7.7176,loss_of_function,-4.29943901661334,0.4425388853555089,,,0.4933,ambiguous,0.069975473,neutral,-0.06396367,neutral,https://doi.org/10.1101/2022.10.22.513328 +P654C,NP_000240:p.Pro654Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.396,1.14558,0.4201364038689159,Uncertain,Uncertain,False,0.076,0.34524,,,0.49632,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.89,H,-0.349,0.1112,-22.0054,loss_of_function,-4.29943901661334,0.4425388853555089,,,0.94,pathogenic,0.075051046,neutral,-0.536442941,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654D,NP_000240:p.Pro654Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.08845,1.88844,0.1412352399327832,Uncertain,Uncertain,False,0.076,0.64576,,,0.50415,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.89,H,-0.3749,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9877,pathogenic,0.326349389,stabilizing,-0.652404741,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654E,NP_000240:p.Pro654Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83338,2.27245,-0.0937113873799966,Uncertain,Neutral,False,0.076,0.81502,,,1.38403,,,,Uncertain,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3587,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.97,pathogenic,0.467491683,stabilizing,-0.813050919,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654F,NP_000240:p.Pro654Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.29254,0.58129,-0.6095401961041774,Uncertain,Uncertain,False,0.076,0.99196,,,0.32389,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3774,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9859,pathogenic,-0.659768137,destabilizing,-0.620506915,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654G,NP_000240:p.Pro654Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07872,1.91973,1.006147780185369,Uncertain,Uncertain,False,0.076,0.92726,,,0.49297,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.89,H,-0.2628,0.1112,-8.7175,loss_of_function,-3.06919610828948,0.5944135656217182,,,0.8067,pathogenic,-0.089512387,destabilizing,-0.05698648,neutral,https://doi.org/10.1101/2022.10.22.513328 +P654H,NP_000240:p.Pro654His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.40318,1.72993,-0.3932168055598661,Uncertain,Uncertain,False,0.076,0.83026,,,0.8747,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.355,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9073,pathogenic,-0.005992395,neutral,-0.370418022,neutral,https://doi.org/10.1101/2022.10.22.513328 +P654I,NP_000240:p.Pro654Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.3657,-0.43367,-0.5765719191738772,Neutral,Neutral,False,0.076,-0.06384,,,0.39779,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3604,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9697,pathogenic,-0.94894142,destabilizing,-1.020586211,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654K,NP_000240:p.Pro654Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32691,0.47007,-0.1117852317401535,Neutral,Neutral,False,0.076,1.04582,,,1.91659,,,,Destabilizing,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3503,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9872,pathogenic,-0.085789185,destabilizing,-0.554286777,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654L,NP_000240:p.Pro654Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.8781,0.68571,-0.7870515401783612,Neutral,Neutral,False,0.076,0.43998,,,0.74137,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,89959,Pathogenic,3,91.89,H,-0.365,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.843,pathogenic,-1.120210432,destabilizing,-1.037323964,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654M,NP_000240:p.Pro654Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66957,0.29626,-0.4249992432175453,Neutral,Neutral,False,0.076,-0.36638,,,0.73689,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.316,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9649,pathogenic,-0.610619518,destabilizing,-0.947534341,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654N,NP_000240:p.Pro654Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.63653,0.96361,-0.0751344220095862,Uncertain,Uncertain,False,0.076,0.74308,,,1.13354,,,,Uncertain,,17.3,,False,17.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.89,H,-0.343,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9766,pathogenic,0.192916573,stabilizing,-0.622446078,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654Q,NP_000240:p.Pro654Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.85606,1.13231,-0.142598331296041,Neutral,Neutral,False,0.076,1.08776,,,1.25173,,,,Destabilizing,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3447,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9145,pathogenic,-0.148639912,destabilizing,-0.962663994,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654R,NP_000240:p.Pro654Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95485,0.63197,-0.3040119198445701,Neutral,Neutral,False,0.076,2.4283,,,1.73616,,,,Destabilizing,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3861,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9487,pathogenic,-0.44261761,destabilizing,-0.888993673,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654S,NP_000240:p.Pro654Ser,"hg19,3:g.37090071C>T",,,0.905,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68883,1.66633,0.0695037460819203,Uncertain,Uncertain,False,0.076,0.79444,,,0.41932,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,619552,Conflicting classifications of pathogenicity,1,91.89,H,-0.243,0.1112,-7.7176,loss_of_function,-3.17828904338963,0.580945936972502,,,0.7023,pathogenic,0.161788672,stabilizing,-0.100875499,neutral,https://doi.org/10.1101/2022.10.22.513328 +P654T,NP_000240:p.Pro654Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41126,0.90408,-0.2870938409236145,Uncertain,Uncertain,False,0.076,0.74708,,,0.03369,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.89,H,-0.3281,0.1112,-22.0054,loss_of_function,-4.29943901661334,0.4425388853555089,,,0.8086,pathogenic,-0.186301908,destabilizing,-1.066331061,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654V,NP_000240:p.Pro654Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76057,-0.46735,-0.4784431038575487,Neutral,Neutral,False,0.076,0.34284,,,0.26139,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3158,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9096,pathogenic,-0.603641213,destabilizing,-0.985807381,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654W,NP_000240:p.Pro654Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.6038,0.50204,-0.8835907600110093,Uncertain,Uncertain,False,0.076,1.83358,,,1.55962,,,,Destabilizing,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3899,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9908,pathogenic,-0.8957137,destabilizing,-1.013801717,damaging,https://doi.org/10.1101/2022.10.22.513328 +P654Y,NP_000240:p.Pro654Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12204,1.49116,-0.3568020835433316,Uncertain,Uncertain,False,0.076,0.9098,,,0.68382,,,,Neutral,,17.3,,False,17.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.89,H,-0.3784,0.1112,-22.0054,loss_of_function,-4.83052838635837,0.37697538754782567,,,0.9775,pathogenic,0.134708818,stabilizing,-0.89671109,damaging,https://doi.org/10.1101/2022.10.22.513328 +I655A,NP_000240:p.Ile655Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29241,2.36905,2.233242551656654,Uncertain,Uncertain,False,0.116,0.03466,,,0.00683,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.0542,3.183,-6.7211,loss_of_function,-1.61218869844157,0.7742825435438384,,,0.2523,benign,0.283991005,stabilizing,-0.01444374,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655C,NP_000240:p.Ile655Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68447,2.73333,2.778212993496648,Uncertain,Uncertain,False,0.116,0.03484,,,0.0427,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.0444,3.183,-8.721,loss_of_function,-2.08026671335034,0.7164978586064819,,,0.5025,ambiguous,0.106988279,neutral,-0.053115165,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655D,NP_000240:p.Ile655Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12363,3.01769,2.9669892760091,Uncertain,Uncertain,False,0.116,-0.0167,,,0.1484,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.1834,3.183,-7.721,loss_of_function,-1.14817503207366,0.8315654807117447,,,0.5696,pathogenic,0.507477763,stabilizing,0.014737213,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655E,NP_000240:p.Ile655Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00382,3.50646,2.527356337908236,Uncertain,Uncertain,False,0.116,-0.04328,,,-0.04762,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.1473,3.183,-4.3992,loss_of_function,-1.27313999872392,0.8161384343731125,,,0.5482,ambiguous,0.505247189,stabilizing,0.093399351,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655F,NP_000240:p.Ile655Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84203,1.7102,0.5704976053967259,Neutral,Neutral,False,0.116,0.01628,,,-0.09984,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1000222,Uncertain significance,1,92.01,H,-0.0111,3.183,-5.9137,loss_of_function,-1.19653806097796,0.8255950178853803,,,0.1152,benign,0.04523905,neutral,-0.03046014,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655G,NP_000240:p.Ile655Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.06091,3.44388,3.625713434566021,Uncertain,Uncertain,False,0.116,0.01596,,,0.04556,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.1449,3.183,-6.7211,loss_of_function,-1.76700892344488,0.7551698366043967,,,0.4118,ambiguous,0.237692124,stabilizing,0.005461061,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655H,NP_000240:p.Ile655His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54267,2.15816,1.7137335091307555,Uncertain,Neutral,False,0.116,0.00962,,,-0.06622,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.1388,3.183,-5.5512,loss_of_function,-1.36955707621862,0.80423565263982,,,0.4011,ambiguous,0.154513808,stabilizing,0.156646423,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655K,NP_000240:p.Ile655Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71159,3.5585,2.607834902672744,Uncertain,Uncertain,False,0.116,-0.02872,,,-0.1965,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.01,H,-0.1568,3.183,-7.721,loss_of_function,-1.87967080121219,0.7412616185213411,,,0.4058,ambiguous,0.001467562,neutral,-0.104968067,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655L,NP_000240:p.Ile655Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36547,0.45102,0.0079138313226079,Neutral,Neutral,False,0.116,-0.01724,,,-0.03002,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.01,H,0.0825,3.183,-2.4173,gain_of_function,-0.0532725356955756,0.9667322558542687,,,0.0561,benign,0.030473552,neutral,0.049367289,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655M,NP_000240:p.Ile655Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38245,1.46429,0.833915249268461,Neutral,Neutral,False,0.116,-0.01488,,,-0.01547,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.01,H,0.0804,3.183,-1.7324,gain_of_function,-0.158456764785663,0.9537471607531154,,,0.0736,benign,0.211133673,stabilizing,0.022516212,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655N,NP_000240:p.Ile655Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12109,2.26293,2.155573021831572,Uncertain,Uncertain,False,0.116,0.03562,,,-0.0619,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,479685,Uncertain significance,1,92.01,H,-0.0839,3.183,-5.2617,loss_of_function,-1.5729152347298,0.7791308907310602,,,0.2283,benign,0.126733332,stabilizing,0.078308481,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655P,NP_000240:p.Ile655Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40609,6.25238,5.300630537534096,Uncertain,Uncertain,False,0.116,0.17114,,,0.02058,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.2085,3.183,-8.721,loss_of_function,-2.60292308142711,0.651975423034058,,,0.5455,ambiguous,0.205178518,stabilizing,-0.033582346,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655Q,NP_000240:p.Ile655Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63165,2.36429,1.9882556691862607,Uncertain,Neutral,False,0.116,0.00664,,,-0.07486,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.1071,3.183,-4.3992,loss_of_function,-1.37851771581849,0.8031294529901385,,,0.3959,ambiguous,0.084447102,neutral,0.074594604,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655R,NP_000240:p.Ile655Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74671,3.48741,1.8042542892771567,Uncertain,Neutral,False,0.116,-0.04572,,,0.00168,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.01,H,-0.1634,3.183,-3.7669,loss_of_function,-2.45025991779379,0.6708218386552036,,,0.2987,benign,-0.094827545,destabilizing,0.085538673,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655S,NP_000240:p.Ile655Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40927,3.11054,2.9826651117030867,Uncertain,Uncertain,False,0.116,0.01348,,,-0.27313,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.01,H,-0.0867,3.183,-5.1361,loss_of_function,-1.24424236226235,0.819705875622605,,,0.2324,benign,0.215268545,stabilizing,0.04590602,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655T,NP_000240:p.Ile655Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83454,1.61497,2.065490891320004,Neutral,Uncertain,False,0.116,0.05172,,,-0.16427,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,41638,Conflicting classifications of pathogenicity,1,92.01,H,0.0016,3.183,-4.1361,gain_of_function,-0.760033640334326,0.8794819119869369,,,0.2222,benign,0.110638599,stabilizing,0.02969688,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655V,NP_000240:p.Ile655Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87378,0.82857,0.5354029807139921,Neutral,Neutral,False,0.116,-0.01116,,,-0.02003,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,41637,Likely benign,3,92.01,H,0.1056,3.183,-5.7211,gain_of_function,-0.0497582924895079,0.9671660925865824,,,0.0638,benign,0.059282251,neutral,0.117601932,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655W,NP_000240:p.Ile655Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08238,1.73673,0.6071909763515123,Neutral,Neutral,False,0.116,-0.0096,,,-0.48554,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.01,H,-0.1821,3.183,-22.0088,loss_of_function,-2.02072865847512,0.7238478892278051,,,0.6208,pathogenic,0.418652993,stabilizing,-0.158039985,neutral,https://doi.org/10.1101/2022.10.22.513328 +I655Y,NP_000240:p.Ile655Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14323,1.87211,1.178902297359074,Neutral,Neutral,False,0.116,-0.00326,,,-0.19168,,,,Neutral,,18.7,,False,18.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,92.01,H,-0.1181,3.183,-7.721,loss_of_function,-1.42156495480071,0.7978152295855304,,,0.3505,ambiguous,0.15173322,stabilizing,0.007839454,neutral,https://doi.org/10.1101/2022.10.22.513328 +F656A,NP_000240:p.Phe656Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.00147,4.85748,4.598999250974651,Destabilizing,Destabilizing,True,0.205,-0.03224,,,-0.00831,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3911,0.6191,-22.0088,loss_of_function,-4.19741225736442,0.45513418774228603,,,0.9442,pathogenic,-1.090432845,destabilizing,-1.05841757,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656C,NP_000240:p.Phe656Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.09326,5.10306,5.068304298971367,Destabilizing,Destabilizing,True,0.205,-0.0469,,,-0.21331,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3593,0.6191,-22.0088,loss_of_function,-4.19741225736442,0.45513418774228603,,,0.66,pathogenic,-0.7963959,destabilizing,-0.933584528,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656D,NP_000240:p.Phe656Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.20698,6.15238,5.958793342707689,Destabilizing,Destabilizing,True,0.205,-0.00806,,,-0.07676,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.5141,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9976,pathogenic,-1.353147371,destabilizing,-1.01965053,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656E,NP_000240:p.Phe656Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.29202,5.17925,5.411214663973013,Destabilizing,Destabilizing,True,0.205,0.02536,,,0.01855,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4835,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9977,pathogenic,-1.271849649,destabilizing,-1.008617648,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656G,NP_000240:p.Phe656Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.72143,6.84286,6.614565631098244,Destabilizing,Destabilizing,True,0.205,-0.13206,,,-0.03745,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4265,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.968,pathogenic,-1.266383406,destabilizing,-1.023045269,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656H,NP_000240:p.Phe656His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.72034,3.0034,2.883889848787891,Uncertain,Uncertain,True,0.205,-0.02696,,,0.03631,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4187,0.6191,-22.0088,loss_of_function,-2.76750810296997,0.6316572424907658,,,0.9699,pathogenic,-0.284560936,destabilizing,-0.877189896,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656I,NP_000240:p.Phe656Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.81282,3.07721,3.365680174553871,Destabilizing,Destabilizing,True,0.205,0.09592,,,0.11417,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.2673,0.6191,-8.721,loss_of_function,-3.45915850183372,0.5462723299074896,,,0.7655,pathogenic,-1.187216253,destabilizing,-1.078950141,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656K,NP_000240:p.Phe656Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.90795,5.35136,5.801273013220336,Destabilizing,Destabilizing,True,0.205,-0.00238,,,-0.04896,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4904,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9977,pathogenic,-1.280632226,destabilizing,-0.999024287,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656L,NP_000240:p.Phe656Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.57325,1.74286,2.389646242485611,Uncertain,Uncertain,True,0.205,-0.02204,,,-0.02234,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.2111,0.6191,-5.1361,loss_of_function,-1.25586464630132,0.8182710933853421,,,0.8793,pathogenic,0.138544914,stabilizing,-0.145313912,neutral,https://doi.org/10.1101/2022.10.22.513328 +F656M,NP_000240:p.Phe656Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11542,2.31633,2.709888716652833,Uncertain,Uncertain,True,0.205,0.0393,,,0.02055,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3282,0.6191,-22.0088,loss_of_function,-3.45915850183372,0.5462723299074896,,,0.7953,pathogenic,-0.01094996,neutral,-0.50680268,neutral,https://doi.org/10.1101/2022.10.22.513328 +F656N,NP_000240:p.Phe656Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.59362,4.82313,4.620078865178021,Destabilizing,Destabilizing,True,0.205,-0.04208,,,-0.06156,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4438,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9879,pathogenic,-1.220745008,destabilizing,-1.053837872,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656P,NP_000240:p.Phe656Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.54793,12.75646,10.052807174562272,Destabilizing,Destabilizing,True,0.205,-0.03282,,,-0.07647,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.5145,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.999,pathogenic,-1.287531628,destabilizing,-1.039765417,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656Q,NP_000240:p.Phe656Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.97955,4.09354,4.279498132658091,Destabilizing,Destabilizing,True,0.205,-0.01086,,,-0.11216,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4458,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9938,pathogenic,-1.250904988,destabilizing,-1.029515266,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656R,NP_000240:p.Phe656Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.2143,5.02075,4.337889897595217,Destabilizing,Destabilizing,True,0.205,0.02308,,,0.18373,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4917,0.6191,-22.0088,loss_of_function,-4.35739062663765,0.4353847028897505,,,0.9923,pathogenic,-1.355688595,destabilizing,-0.977685104,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656S,NP_000240:p.Phe656Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.51692,6.02687,5.740369806841069,Destabilizing,Destabilizing,True,0.205,0.02396,,,-0.03469,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3701,0.6191,-22.0088,loss_of_function,-4.19741225736442,0.45513418774228603,,,0.942,pathogenic,-1.08260311,destabilizing,-1.042786582,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656T,NP_000240:p.Phe656Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.29658,5.63707,4.837627256045867,Destabilizing,Destabilizing,True,0.205,-0.04884,,,-0.09948,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4164,0.6191,-22.0088,loss_of_function,-3.67912918809187,0.5191167353355917,,,0.9614,pathogenic,-0.614174966,destabilizing,-0.943460894,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656V,NP_000240:p.Phe656Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.72216,5.1432,3.6439967331465337,Destabilizing,Destabilizing,True,0.205,0.09014,,,0.02143,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1709836,Uncertain significance,1,93.59,H,-0.3294,0.6191,-22.0088,loss_of_function,-3.45915850183372,0.5462723299074896,,,0.6838,pathogenic,-1.041490701,destabilizing,-1.044114433,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656W,NP_000240:p.Phe656Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.22532,1.2881,0.6390207977593384,Uncertain,Uncertain,True,0.205,0.0147,,,-0.10109,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.59,H,-0.3147,0.6191,-22.0088,loss_of_function,-2.76750810296997,0.6316572424907658,,,0.8054,pathogenic,-0.097993332,destabilizing,-0.772705466,damaging,https://doi.org/10.1101/2022.10.22.513328 +F656Y,NP_000240:p.Phe656Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32258,0.22755,0.823401247083488,Neutral,Neutral,True,0.205,-0.02694,,,-0.01169,,,,Neutral,,3.2,,False,3.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.59,H,-0.189,0.6191,-3.5918,loss_of_function,-1.21878286922772,0.8228488747313276,,,0.3899,ambiguous,-0.130900754,destabilizing,-0.656315592,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657A,NP_000240:p.Ile657Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9774,3.21156,3.579909800910928,Destabilizing,Destabilizing,True,0.377,-0.3122,,,-0.05064,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.2087,1.6147,-8.721,loss_of_function,-2.15587201812757,0.7071643104008551,,,0.646,pathogenic,-0.195242491,destabilizing,-0.440364143,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657C,NP_000240:p.Ile657Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.64598,2.85714,3.3393270960453045,Uncertain,Destabilizing,True,0.377,-0.09204,,,0.04436,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.2565,1.6147,-22.0088,loss_of_function,-3.65541518284777,0.522044252283595,,,0.7614,pathogenic,-0.025766186,neutral,-0.085522123,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657D,NP_000240:p.Ile657Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.91449,4.11088,5.451192991350064,Destabilizing,Destabilizing,True,0.377,-0.20358,,,-0.04429,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.4006,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.9912,pathogenic,-1.225672397,destabilizing,-1.005733065,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657E,NP_000240:p.Ile657Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.1727,2.97109,4.910486484828981,Uncertain,Destabilizing,True,0.377,-0.11678,,,-0.02443,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.3815,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.9823,pathogenic,-1.232461225,destabilizing,-0.980093005,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657F,NP_000240:p.Ile657Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13534,1.21429,2.9016572400880385,Uncertain,Uncertain,True,0.377,0.45138,,,-0.02648,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.94,H,-0.1544,1.6147,-5.7211,loss_of_function,-2.21725732337664,0.6995862349292005,,,0.3162,benign,0.307641406,stabilizing,-0.524273268,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657G,NP_000240:p.Ile657Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.79373,5.57415,6.201450847839693,Destabilizing,Destabilizing,True,0.377,-0.42116,,,-0.041,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.3672,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.913,pathogenic,-1.235645787,destabilizing,-1.053751209,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657H,NP_000240:p.Ile657His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.21489,2.29864,3.718564740933681,Uncertain,Destabilizing,True,0.377,0.37374,,,0.12001,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.3671,1.6147,-22.0088,loss_of_function,-3.45422748647,0.546881068536817,,,0.9613,pathogenic,-1.306196087,destabilizing,-1.047123988,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657K,NP_000240:p.Ile657Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07151,5.76156,7.123367108051211,Destabilizing,Destabilizing,True,0.377,0.0079,,,0.03346,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.94,H,-0.374,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.9787,pathogenic,-1.323829001,destabilizing,-1.004843686,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657L,NP_000240:p.Ile657Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08794,2.77619,1.3421151040045929,Uncertain,Neutral,True,0.377,0.05482,,,-0.02435,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.94,H,-0.0556,1.6147,-1.2133,loss_of_function,-1.08317479261694,0.8395898233175202,,,0.1342,benign,0.117186972,stabilizing,-0.03028903,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657M,NP_000240:p.Ile657Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.47941,1.11633,2.00800292920778,Neutral,Uncertain,True,0.377,0.01128,,,0.0516,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.94,H,-0.0877,1.6147,-6.3991,loss_of_function,-0.671436098638586,0.8904193644415463,,,0.1607,benign,-0.041411828,neutral,-0.034740982,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657N,NP_000240:p.Ile657Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.28786,3.08946,3.4583260244127905,Destabilizing,Destabilizing,True,0.377,-0.0246,,,-0.03071,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1783620,Uncertain significance,1,93.94,H,-0.3137,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.8753,pathogenic,-1.212226144,destabilizing,-0.973233324,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657P,NP_000240:p.Ile657Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.44304,8.95714,8.49783445203481,Destabilizing,Destabilizing,True,0.377,-0.04704,,,0.06589,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.4206,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.9715,pathogenic,-1.238899774,destabilizing,-1.071005727,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657Q,NP_000240:p.Ile657Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.59169,2.13503,3.5166150380270222,Uncertain,Destabilizing,True,0.377,-0.11632,,,-0.08855,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.3412,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.9591,pathogenic,-1.180980054,destabilizing,-0.959141273,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657R,NP_000240:p.Ile657Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.09916,6.05272,5.983268624229196,Destabilizing,Destabilizing,True,0.377,0.10948,,,0.02983,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.94,H,-0.4008,1.6147,-22.0088,loss_of_function,-3.88076253549937,0.49422490303050515,,,0.963,pathogenic,-1.19973461,destabilizing,-0.970678207,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657S,NP_000240:p.Ile657Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.48477,4.27347,4.900666629192302,Destabilizing,Destabilizing,True,0.377,-0.22874,,,0.02184,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.94,H,-0.3171,1.6147,-22.0088,loss_of_function,-3.65541518284777,0.522044252283595,,,0.7037,pathogenic,-0.767130418,destabilizing,-1.038500516,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657T,NP_000240:p.Ile657Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.89481,2.52143,3.1254982972807954,Uncertain,Uncertain,True,0.377,-0.0411,,,0.05241,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,839191,Uncertain significance,1,93.94,H,-0.2339,1.6147,-22.0088,loss_of_function,-3.65541518284777,0.522044252283595,,,0.5129,ambiguous,-0.039199746,neutral,-0.236410463,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657V,NP_000240:p.Ile657Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59887,0.78844,1.1845849603556786,Neutral,Neutral,True,0.377,-0.12812,,,-0.07487,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1442681,Uncertain significance,1,93.94,H,-0.0254,1.6147,-3.1064,loss_of_function,-0.0929473217093915,0.96183436503961,,,0.0701,benign,0.014781272,neutral,0.178016489,neutral,https://doi.org/10.1101/2022.10.22.513328 +I657W,NP_000240:p.Ile657Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41811,2.53231,4.925078064306621,Uncertain,Uncertain,True,0.377,0.48974,,,-0.07458,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.94,H,-0.3264,1.6147,-22.0088,loss_of_function,-3.45422748647,0.546881068536817,,,0.966,pathogenic,-1.120234546,destabilizing,-0.984615982,damaging,https://doi.org/10.1101/2022.10.22.513328 +I657Y,NP_000240:p.Ile657Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.44373,7.4119,4.583134799034072,Destabilizing,Destabilizing,True,0.377,0.13126,,,-0.32876,,,,Neutral,,0.6,,False,0.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.94,H,-0.3353,1.6147,-22.0088,loss_of_function,-3.45422748647,0.546881068536817,,,0.894,pathogenic,-1.310149508,destabilizing,-1.06154528,damaging,https://doi.org/10.1101/2022.10.22.513328 +L658A,NP_000240:p.Leu658Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.55119,2.4034,2.7365513036130293,Uncertain,Uncertain,True,0.347,0.0,,,0.13156,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.2135,1.4007,-7.1361,loss_of_function,-3.07776845768895,0.5933553007738854,,,0.935,pathogenic,0.018032158,neutral,-0.062098363,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658C,NP_000240:p.Leu658Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.10751,2.84762,3.087907430130497,Uncertain,Destabilizing,True,0.347,0.0,,,-0.0382,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.2787,1.4007,-22.0088,loss_of_function,-3.82122100655517,0.5015753625290135,,,0.9085,pathogenic,0.015632888,neutral,-0.16752337,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658D,NP_000240:p.Leu658Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.45424,3.88299,3.5963306997321003,Destabilizing,Destabilizing,True,0.347,-0.0678,,,-0.09172,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.411,1.4007,-22.0088,loss_of_function,-4.02138665309304,0.4768647193198309,,,0.9991,pathogenic,-1.066403821,destabilizing,-0.964251554,damaging,https://doi.org/10.1101/2022.10.22.513328 +L658E,NP_000240:p.Leu658Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.74181,3.28946,3.1271217713359816,Destabilizing,Destabilizing,True,0.347,-0.05316,,,0.00115,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.379,1.4007,-22.0088,loss_of_function,-3.60950353846588,0.5277120893130282,,,0.9918,pathogenic,-0.482560766,destabilizing,-0.617417461,damaging,https://doi.org/10.1101/2022.10.22.513328 +L658F,NP_000240:p.Leu658Phe,"hg19,3:g.37090083C>T, hg38,3:g.37048592C>T",,,0.845,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18722,0.28197,0.2421868954825884,Neutral,Neutral,True,0.347,0.0,,,0.02376,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,641816,Uncertain significance,1,92.69,H,-0.1389,1.4007,-5.5512,loss_of_function,-2.13868460208463,0.7092861135817247,,,0.7031,pathogenic,-0.023199571,neutral,0.068363794,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658G,NP_000240:p.Leu658Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.2105,4.45714,4.474030429989108,Destabilizing,Destabilizing,True,0.347,-0.00142,,,-0.162,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.3643,1.4007,-22.0088,loss_of_function,-4.44467191010348,0.42460974379028477,,,0.9773,pathogenic,-0.416782811,destabilizing,-0.31631234,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658H,NP_000240:p.Leu658His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83541,1.16667,1.7710246758594277,Uncertain,Uncertain,True,0.347,0.03666,,,0.00736,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.3318,1.4007,-22.0088,loss_of_function,-2.74905206932669,0.6339356577448513,,,0.9718,pathogenic,-0.502943216,destabilizing,0.020652203,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658I,NP_000240:p.Leu658Ile,"hg19,3:g.37090083C>A",,,0.726,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.75176,3.23299,1.46709202143708,Destabilizing,Uncertain,True,0.347,0.0,,,0.12273,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,-,-,uncertain,neutral,1783645,Uncertain significance,2,92.69,H,-0.0804,1.4007,-5.7211,loss_of_function,-1.34108639082962,0.8077503863652965,,,0.3952,ambiguous,-0.037256565,neutral,-0.163092584,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658K,NP_000240:p.Leu658Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97276,1.57755,2.9139524994867827,Uncertain,Uncertain,True,0.347,0.00622,,,0.05354,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.69,H,-0.378,1.4007,-22.0088,loss_of_function,-4.1612692311329,0.4595960793863062,,,0.9882,pathogenic,-0.573356431,destabilizing,-0.056560617,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658M,NP_000240:p.Leu658Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66632,1.3017,1.2875034396315022,Neutral,Neutral,True,0.347,0.00028,,,-0.01927,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.69,H,-0.091,1.4007,-3.2292,loss_of_function,-1.22245771177588,0.8223952118544646,,,0.4014,ambiguous,-0.050168507,neutral,-0.052934933,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658N,NP_000240:p.Leu658Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.63463,2.79252,2.7724381752463287,Uncertain,Uncertain,True,0.347,0.0,,,-0.0361,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.3573,1.4007,-22.0088,loss_of_function,-4.02138665309304,0.4768647193198309,,,0.9894,pathogenic,-0.483824199,destabilizing,-0.509436904,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658P,NP_000240:p.Leu658Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.68203,10.92177,7.963843041015687,Destabilizing,Destabilizing,True,0.347,0.0087,,,0.39094,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,185279,Uncertain significance,2,92.69,H,-0.3728,1.4007,-22.0088,loss_of_function,-4.44467191010348,0.42460974379028477,,,0.994,pathogenic,-1.220333732,destabilizing,-1.042188434,damaging,https://doi.org/10.1101/2022.10.22.513328 +L658Q,NP_000240:p.Leu658Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94743,2.34898,2.647495214636672,Uncertain,Uncertain,True,0.347,0.0,,,-0.16128,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.3102,1.4007,-22.0088,loss_of_function,-4.02138665309304,0.4768647193198309,,,0.9604,pathogenic,-0.385954376,destabilizing,-0.163988752,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658R,NP_000240:p.Leu658Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.04398,2.48707,2.2487721119674777,Uncertain,Uncertain,True,0.347,0.06802,,,-0.12116,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1783667,Uncertain significance,1,92.69,H,-0.2967,1.4007,-7.721,loss_of_function,-4.18513574302852,0.456649735344254,,,0.9667,pathogenic,-0.494240178,destabilizing,-0.230381697,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658S,NP_000240:p.Leu658Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.45215,3.62925,3.5731558000405625,Destabilizing,Destabilizing,True,0.347,0.0,,,-0.02241,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.3198,1.4007,-22.0088,loss_of_function,-3.82122100655517,0.5015753625290135,,,0.9647,pathogenic,-0.295071327,destabilizing,-0.28265606,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658T,NP_000240:p.Leu658Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.81594,2.4381,2.8473515881227907,Uncertain,Uncertain,True,0.347,0.0,,,0.03248,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.2248,1.4007,-8.721,loss_of_function,-2.75731227395924,0.6329159274712493,,,0.9159,pathogenic,-0.250530418,destabilizing,-0.122247912,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658V,NP_000240:p.Leu658Val,"hg19,3:g.37090083C>G, hg38,3:g.37048592C>G",,,0.802,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.03386,1.56769,1.809911926536574,Uncertain,Uncertain,True,0.347,0.0,,,0.17322,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.69,H,-0.1089,1.4007,-4.1975,loss_of_function,-1.35172192900414,0.8064374188620618,,,0.4049,ambiguous,-0.144606155,destabilizing,-0.059501195,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658W,NP_000240:p.Leu658Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40853,0.62925,0.397265531435455,Uncertain,Uncertain,True,0.347,0.00036,,,0.03891,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.69,H,-0.2491,1.4007,-7.721,loss_of_function,-1.92623696448059,0.7355129805005393,,,0.9329,pathogenic,-0.135856583,destabilizing,-0.051427455,neutral,https://doi.org/10.1101/2022.10.22.513328 +L658Y,NP_000240:p.Leu658Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77039,0.21905,0.6408029114143887,Neutral,Neutral,True,0.347,0.0,,,0.02395,,,,Neutral,,7.2,,False,7.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.69,H,-0.2288,1.4007,-5.1361,loss_of_function,-2.27369843374544,0.6926185251109743,,,0.9644,pathogenic,-0.219092344,destabilizing,0.047250128,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659A,NP_000240:p.Arg659Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.08202,1.56565,1.8271140301117617,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3433,0.7103,-22.0088,loss_of_function,-2.92036579113951,0.6127868126269511,,,0.9675,pathogenic,0.666864647,stabilizing,-0.432836492,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659C,NP_000240:p.Arg659Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.64244,1.96224,2.39973442200471,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.2674,0.7103,-5.3992,loss_of_function,-2.60722350476325,0.6514445316021573,,,0.4798,ambiguous,0.322603112,stabilizing,-0.815734581,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659D,NP_000240:p.Arg659Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.06617,3.76531,3.0677185930299102,Destabilizing,Destabilizing,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3666,0.7103,-8.721,loss_of_function,-3.78260606446555,0.5063424145832695,,,0.9852,pathogenic,0.657426674,stabilizing,-0.8602961,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659E,NP_000240:p.Arg659Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.28572,3.77007,2.6667585663767683,Destabilizing,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3118,0.7103,-8.721,loss_of_function,-3.78260606446555,0.5063424145832695,,,0.9128,pathogenic,-0.593167819,destabilizing,-0.996702,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659F,NP_000240:p.Arg659Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70703,0.27823,0.5960080621192743,Neutral,Neutral,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.97,H,-0.3755,0.7103,-22.0088,loss_of_function,-3.85341037613738,0.49760155363306974,,,0.9803,pathogenic,-0.634244839,destabilizing,-0.994012602,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659G,NP_000240:p.Arg659Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79192,3.27381,3.02716150774981,Destabilizing,Destabilizing,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3109,0.7103,-8.721,loss_of_function,-3.70529392789675,0.5158866728290509,,,0.8851,pathogenic,0.823076719,stabilizing,-0.612008948,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659H,NP_000240:p.Arg659His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.1125,1.4551,1.4473218515129096,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.231,0.7103,-5.9137,loss_of_function,-2.5671224596782,0.656395044512596,,,0.3028,benign,0.169949411,stabilizing,-0.180724033,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659I,NP_000240:p.Arg659Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.52813,2.21803,1.524286247119579,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3727,0.7103,-22.0088,loss_of_function,-4.63559298486262,0.4010403519336546,,,0.9737,pathogenic,-1.061203759,destabilizing,-1.023099341,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659K,NP_000240:p.Arg659Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47375,1.59422,1.7755838602893388,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.97,H,-0.1539,0.7103,-6.3991,loss_of_function,-1.67665150621508,0.7663245474006193,,,0.5306,ambiguous,0.057608583,neutral,-0.014223877,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659L,NP_000240:p.Arg659Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99115,0.93299,0.7949305522594193,Neutral,Neutral,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89966,Pathogenic,3,92.97,H,-0.3458,0.7103,-22.0088,loss_of_function,-4.63559298486262,0.4010403519336546,,,0.9065,pathogenic,-0.986302261,destabilizing,-0.961629615,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659M,NP_000240:p.Arg659Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6544,1.41327,1.4355780121567918,Neutral,Neutral,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3116,0.7103,-22.0088,loss_of_function,-4.63559298486262,0.4010403519336546,,,0.9615,pathogenic,-0.114085802,destabilizing,-0.939023604,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659N,NP_000240:p.Arg659Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73072,1.97993,2.051361505877921,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.2772,0.7103,-6.1361,loss_of_function,-2.77200306091731,0.6311023355724301,,,0.9541,pathogenic,0.989118798,stabilizing,-0.204578283,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659P,NP_000240:p.Arg659Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.31817,9.6483,5.998781146071842,Destabilizing,Destabilizing,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89965,Pathogenic,3,92.97,H,-0.4854,0.7103,-22.0088,loss_of_function,-4.63559298486262,0.4010403519336546,,,0.9963,pathogenic,-1.307980437,destabilizing,-1.012972943,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659Q,NP_000240:p.Arg659Gln,"hg19,3:g.37090087G>A, hg38,3:g.37048596G>A",3.1901997065e-05,1.59318118453e-05,0.798,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.8007,2.11871,2.062278136687997,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,89964,Conflicting classifications of pathogenicity,1,92.97,H,-0.2349,0.7103,-5.7211,loss_of_function,-2.47648199761277,0.6675846974683071,,,0.4119,ambiguous,0.508025205,stabilizing,-0.641211535,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659S,NP_000240:p.Arg659Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96226,2.45204,2.6787315391048887,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.2761,0.7103,-8.721,loss_of_function,-2.81953491324782,0.6252344823002725,,,0.956,pathogenic,0.832389626,stabilizing,-0.499662552,neutral,https://doi.org/10.1101/2022.10.22.513328 +R659T,NP_000240:p.Arg659Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.03108,2.18469,2.269008878787921,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3482,0.7103,-22.0088,loss_of_function,-3.76055071996885,0.5090651682532428,,,0.9658,pathogenic,0.04050999,neutral,-0.977379437,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659V,NP_000240:p.Arg659Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.00795,1.11259,1.7575245137178377,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.97,H,-0.3598,0.7103,-22.0088,loss_of_function,-4.63559298486262,0.4010403519336546,,,0.9755,pathogenic,-0.996708648,destabilizing,-1.010692978,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659W,NP_000240:p.Arg659Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.82493,0.49048,0.4499717374637996,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.97,H,-0.3611,0.7103,-22.0088,loss_of_function,-3.85341037613738,0.49760155363306974,,,0.6894,pathogenic,-0.951498707,destabilizing,-1.034105344,damaging,https://doi.org/10.1101/2022.10.22.513328 +R659Y,NP_000240:p.Arg659Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23037,-0.35442,0.7565788611919313,Uncertain,Uncertain,True,0.204,,,,,,,Uncertain,Uncertain,Uncertain,31.6,,True,31.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.97,H,-0.3648,0.7103,-22.0088,loss_of_function,-3.85341037613738,0.49760155363306974,,,0.9033,pathogenic,-0.219821282,destabilizing,-1.006153206,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660A,NP_000240:p.Leu660Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.95415,3.05748,3.3417067878153595,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.2972,0.5235,-7.721,loss_of_function,-4.38442573171598,0.4320471929460201,,,0.6895,pathogenic,-0.371195566,destabilizing,-0.479750428,neutral,https://doi.org/10.1101/2022.10.22.513328 +L660C,NP_000240:p.Leu660Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.91673,2.83844,3.511279879267053,Uncertain,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.2865,0.5235,-7.721,loss_of_function,-4.38442573171598,0.4320471929460201,,,0.7211,pathogenic,-0.157442749,destabilizing,-0.194266105,neutral,https://doi.org/10.1101/2022.10.22.513328 +L660D,NP_000240:p.Leu660Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.56712,4.43265,4.415946908910453,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4917,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9984,pathogenic,-1.312768817,destabilizing,-1.100120151,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660E,NP_000240:p.Leu660Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99281,2.85034,3.897096915787616,Uncertain,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4598,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9781,pathogenic,-1.274575738,destabilizing,-1.042906825,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660F,NP_000240:p.Leu660Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.80684,1.33129,1.7943115325093555,Neutral,Neutral,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.59,H,-0.3036,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.4914,ambiguous,-0.912496163,destabilizing,-1.123507893,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660G,NP_000240:p.Leu660Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.28653,5.31361,5.230575204697674,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.445,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.959,pathogenic,-1.21771447,destabilizing,-1.07028789,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660H,NP_000240:p.Leu660His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.39841,2.94048,2.823163068069773,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.4125,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9567,pathogenic,-1.323389593,destabilizing,-1.104947162,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660I,NP_000240:p.Leu660Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24254,-0.01871,1.1736481094694908,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.59,H,-0.157,0.5235,-4.9137,loss_of_function,-0.998294464140712,0.8500683821947922,,,0.1691,benign,-0.284867307,destabilizing,0.014024275,neutral,https://doi.org/10.1101/2022.10.22.513328 +L660K,NP_000240:p.Leu660Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.54878,4.45374,4.974610128452241,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.59,H,-0.4588,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9772,pathogenic,-1.318577025,destabilizing,-1.039308411,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660M,NP_000240:p.Leu660Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37494,0.43129,1.4551442586322374,Neutral,Neutral,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.59,H,-0.1828,0.5235,-5.3992,loss_of_function,-0.315968960597346,0.9343021274063916,,,0.1013,benign,0.065084233,neutral,0.016585815,neutral,https://doi.org/10.1101/2022.10.22.513328 +L660N,NP_000240:p.Leu660Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71246,2.86395,3.261591670225517,Uncertain,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.438,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9795,pathogenic,-1.267214576,destabilizing,-1.03292631,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660P,NP_000240:p.Leu660Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.23283,12.23503,7.336047334741555,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,619553,Conflicting classifications of pathogenicity,1,93.59,H,-0.4536,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9954,pathogenic,-1.246979158,destabilizing,-0.967650311,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660Q,NP_000240:p.Leu660Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.77448,1.95612,2.920307206713208,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3909,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.8765,pathogenic,-1.227741387,destabilizing,-1.076704309,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660R,NP_000240:p.Leu660Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.05404,5.01973,3.813295127885024,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.59,H,-0.4504,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9603,pathogenic,-1.358116656,destabilizing,-1.06122273,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660S,NP_000240:p.Leu660Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.09333,3.91463,4.202903492571631,Destabilizing,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3327,0.5235,-8.721,loss_of_function,-4.0735416815442,0.47042613047148135,,,0.8758,pathogenic,-0.75633181,destabilizing,-0.946346299,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660T,NP_000240:p.Leu660Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93927,2.19082,3.300232477870789,Uncertain,Destabilizing,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.59,H,-0.3733,0.5235,-22.0088,loss_of_function,-4.38442573171598,0.4320471929460201,,,0.6974,pathogenic,-0.477297687,destabilizing,-0.634307701,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660V,NP_000240:p.Leu660Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65295,1.18571,1.7697903498541323,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2586626,Uncertain significance,1,93.59,H,-0.2076,0.5235,-7.721,loss_of_function,-2.13465467703441,0.7097836117378676,,,0.1639,benign,-0.18824295,destabilizing,-0.28772677,neutral,https://doi.org/10.1101/2022.10.22.513328 +L660W,NP_000240:p.Leu660Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.97452,2.55102,2.8142025492501985,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.59,H,-0.4028,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.8297,pathogenic,-1.228242478,destabilizing,-1.013463134,damaging,https://doi.org/10.1101/2022.10.22.513328 +L660Y,NP_000240:p.Leu660Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.70064,1.68163,2.864840974659512,Uncertain,Uncertain,True,0.172,,,,,,,,,,0.5,,True,0.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,93.59,H,-0.3957,0.5235,-22.0088,loss_of_function,-4.65459646574525,0.3986943537868929,,,0.9286,pathogenic,-1.259211072,destabilizing,-0.986863688,damaging,https://doi.org/10.1101/2022.10.22.513328 +A661C,NP_000240:p.Ala661Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23033,2.68197,0.6763402493866311,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.1357,1.477,-8.7141,loss_of_function,-1.7952668516097,0.7516813679646022,,,0.8821,pathogenic,0.76106412,stabilizing,-0.024217093,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661D,NP_000240:p.Ala661Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79615,6.20374,2.1771293797507707,Uncertain,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,973393,Uncertain significance,0,91.78,H,-0.2852,1.477,-22.002,loss_of_function,-4.02660178307329,0.47622090646552523,,,0.9936,pathogenic,-1.255814437,destabilizing,-1.117901726,damaging,https://doi.org/10.1101/2022.10.22.513328 +A661E,NP_000240:p.Ala661Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.28641,6.52551,2.1143985366312283,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2708,1.477,-22.002,loss_of_function,-4.02660178307329,0.47622090646552523,,,0.9885,pathogenic,-0.808570825,destabilizing,-0.931193148,damaging,https://doi.org/10.1101/2022.10.22.513328 +A661F,NP_000240:p.Ala661Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.70881,4.72993,0.8286785795610013,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2536,1.477,-22.002,loss_of_function,-3.55748186025977,0.5341342159442874,,,0.9535,pathogenic,0.118617723,stabilizing,0.048078052,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661G,NP_000240:p.Ala661Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.72043,2.4483,2.232189358073078,Uncertain,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.78,H,-0.0917,1.477,-1.3655,loss_of_function,-1.91727628479289,0.7366191850991022,,,0.4452,ambiguous,-0.135759358,destabilizing,-0.163474422,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661H,NP_000240:p.Ala661His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.44702,9.65238,1.428070153791083,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2577,1.477,-22.002,loss_of_function,-3.91633893165224,0.4898329624192785,,,0.9876,pathogenic,-0.310163881,destabilizing,-0.259526349,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661I,NP_000240:p.Ala661Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99662,3.87551,-0.0417461886280634,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2431,1.477,-22.002,loss_of_function,-2.54451210419158,0.6591863148275895,,,0.9274,pathogenic,0.780252915,stabilizing,0.202782119,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661K,NP_000240:p.Ala661Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.94242,10.12993,3.5602418791381365,Destabilizing,Destabilizing,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2755,1.477,-22.002,loss_of_function,-4.14644147440879,0.46142658033559236,,,0.9966,pathogenic,-0.282645599,destabilizing,-0.291563808,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661L,NP_000240:p.Ala661Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64519,6.4483,-0.1034506472793256,Uncertain,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.18,1.477,-8.7141,loss_of_function,-2.73385360481424,0.6358119229301638,,,0.808,pathogenic,0.972526441,stabilizing,-0.041316695,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661M,NP_000240:p.Ala661Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12569,4.12007,0.2450300839194275,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2066,1.477,-22.002,loss_of_function,-3.472745434411,0.5445950099026262,,,0.8801,pathogenic,0.928327197,stabilizing,0.175886261,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661N,NP_000240:p.Ala661Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49,4.9466,0.8960184513535537,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.1878,1.477,-8.7141,loss_of_function,-2.92672399356496,0.6120018863706,,,0.9736,pathogenic,1.021053724,stabilizing,-0.528691395,damaging,https://doi.org/10.1101/2022.10.22.513328 +A661P,NP_000240:p.Ala661Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16922,4.6085,7.4016770808005345,Uncertain,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1783821,Uncertain significance,1,91.78,H,-0.3249,1.477,-22.002,loss_of_function,-4.40417591733033,0.4296090133758858,,,0.9785,pathogenic,-0.228184828,destabilizing,-0.659576766,damaging,https://doi.org/10.1101/2022.10.22.513328 +A661Q,NP_000240:p.Ala661Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99273,7.43844,1.161044434929766,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.1801,1.477,-7.7142,loss_of_function,-2.96131245168539,0.6077319076676961,,,0.9721,pathogenic,0.006150389,neutral,-0.350676724,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661R,NP_000240:p.Ala661Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.66318,10.18639,1.8563164709815216,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2862,1.477,-22.002,loss_of_function,-4.12274064605325,0.46435247058392237,,,0.9888,pathogenic,-0.393596115,destabilizing,-0.483764195,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661S,NP_000240:p.Ala661Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1168,2.2398,1.40748611803037,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.78,H,-0.0872,1.477,-6.1293,loss_of_function,-0.952341742385373,0.8557412902658192,,,0.2997,benign,0.012937332,neutral,-0.193316543,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661T,NP_000240:p.Ala661Thr,"hg19,3:g.37090092G>A",,,0.889,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.95667,2.72245,0.7568638713906836,Uncertain,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.1012,1.477,-7.7142,loss_of_function,-0.767935397526386,0.8785064323975278,,,0.6917,pathogenic,0.272976658,stabilizing,0.062470067,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661V,NP_000240:p.Ala661Val,"hg19,3:g.37090093C>T",,,0.897,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.48425,1.4983,-0.1242858641813982,Neutral,Neutral,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.0817,1.477,-4.4663,loss_of_function,-2.00923247243149,0.7252671045452386,,,0.7337,pathogenic,0.813066126,stabilizing,0.057584234,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661W,NP_000240:p.Ala661Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.82933,7.99558,2.0685079209677224,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.2645,1.477,-22.002,loss_of_function,-3.91633893165224,0.4898329624192785,,,0.995,pathogenic,0.111258964,stabilizing,-0.015476889,neutral,https://doi.org/10.1101/2022.10.22.513328 +A661Y,NP_000240:p.Ala661Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.78891,8.33299,1.6633265105283763,Destabilizing,Uncertain,True,0.173,,,,,,,,,,1.2,,True,1.2,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.78,H,-0.1998,1.477,-7.7142,loss_of_function,-2.85980080789118,0.6202636185519701,,,0.9831,pathogenic,-0.02669422,neutral,0.052621589,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662A,NP_000240:p.Thr662Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.52776,1.50952,0.4015158736648994,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,DOWN,-,neutral,neutral,2975847,Uncertain significance,1,90.03,H,-0.0881,1.6342,-5.7177,loss_of_function,-1.72053731640822,0.7609068015666786,,,0.5462,ambiguous,-0.051275518,neutral,-0.051614191,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662C,NP_000240:p.Thr662Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.22051,0.59932,0.9107174374806906,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,DOWN,-,neutral,neutral,,,,90.03,H,-0.1392,1.6342,-8.7175,loss_of_function,-2.77710085202706,0.6304730083154968,,,0.9066,pathogenic,-0.155865838,destabilizing,-0.111327582,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662D,NP_000240:p.Thr662Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.18583,1.6102,0.5402255979418621,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,-,-,uncertain,neutral,,,,90.03,H,-0.219,1.6342,-8.7175,loss_of_function,-3.57380091583792,0.5321196127050338,,,0.9903,pathogenic,-0.461385349,destabilizing,-0.591924937,damaging,https://doi.org/10.1101/2022.10.22.513328 +T662E,NP_000240:p.Thr662Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14963,0.92211,0.501607399134458,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.1943,1.6342,-8.7175,loss_of_function,-3.80764846576248,0.5032509058541105,,,0.9713,pathogenic,0.12626166,stabilizing,-0.059585438,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662F,NP_000240:p.Thr662Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69813,0.5466,-0.3205004324484628,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.2785,1.6342,-22.0054,loss_of_function,-3.94935342893573,0.4857572907083063,,,0.9767,pathogenic,-0.277258909,destabilizing,0.044885146,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662G,NP_000240:p.Thr662Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97581,2.86973,1.006528807412332,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,DOWN,-,neutral,neutral,,,,90.03,H,-0.2447,1.6342,-22.0054,loss_of_function,-3.32539396319363,0.5627856919431216,,,0.8039,pathogenic,-0.125506076,destabilizing,-0.397800519,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662H,NP_000240:p.Thr662His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.05861,1.29082,-0.1060397615382691,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.1859,1.6342,-7.7176,loss_of_function,-2.95500924766726,0.6085100443173196,,,0.9748,pathogenic,-0.49891152,destabilizing,-0.052989258,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662I,NP_000240:p.Thr662Ile,"hg19,3:g.37090096C>T",,,0.851,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91045,-0.30102,-0.1866974337765192,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,574269,Uncertain significance,2,90.03,H,-0.1212,1.6342,-7.1327,loss_of_function,-3.0073107661026,0.6020533711383399,,,0.9412,pathogenic,-0.017389204,neutral,-0.006574747,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662K,NP_000240:p.Thr662Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02311,0.16735,0.1599815721112513,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.2543,1.6342,-22.0054,loss_of_function,-2.59626793138714,0.652797007761436,,,0.9534,pathogenic,-0.544468667,destabilizing,-0.009502257,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662L,NP_000240:p.Thr662Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31005,-0.7483,-0.4868544848904632,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.2491,1.6342,-22.0054,loss_of_function,-2.99334300855803,0.603777704354784,,,0.7021,pathogenic,-0.127827221,destabilizing,-0.06812692,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662M,NP_000240:p.Thr662Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40489,-0.26259,-0.1314063071242366,Uncertain,Uncertain,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.216,1.6342,-22.0054,loss_of_function,-3.72219337393822,0.5138004198241698,,,0.5262,ambiguous,-0.285365339,destabilizing,-0.053166884,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662N,NP_000240:p.Thr662Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95064,1.03299,0.2250623938754931,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,-,-,uncertain,neutral,,,,90.03,H,-0.1421,1.6342,-5.3957,loss_of_function,-3.05883138337955,0.595693100964773,,,0.9327,pathogenic,-0.365853361,destabilizing,0.058745516,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662P,NP_000240:p.Thr662Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.27252,6.87279,4.065523964096884,Destabilizing,Destabilizing,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,-,-,uncertain,neutral,89968,Likely pathogenic,3,90.03,H,-0.2333,1.6342,-1.9762,loss_of_function,-2.64873883872211,0.6463194233585039,,,0.8627,pathogenic,-1.187915975,destabilizing,-0.864444073,damaging,https://doi.org/10.1101/2022.10.22.513328 +T662Q,NP_000240:p.Thr662Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68315,0.69932,0.4073200526060533,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.1685,1.6342,-8.7175,loss_of_function,-3.49084991817878,0.5423599938216455,,,0.948,pathogenic,-0.462308319,destabilizing,0.111888025,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662R,NP_000240:p.Thr662Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14551,0.60544,-0.1956361987339683,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.1894,1.6342,-8.7175,loss_of_function,-2.55799664841898,0.6575216347638271,,,0.9239,pathogenic,-0.418384704,destabilizing,0.056830506,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662S,NP_000240:p.Thr662Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59603,1.68537,0.5910661073966583,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,,,DOWN,-,neutral,neutral,629497,Uncertain significance,2,90.03,H,-0.0472,1.6342,-4.8108,loss_of_function,-1.33975742929407,0.8079144479558427,,,0.7216,pathogenic,-0.030984291,neutral,-0.030309352,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662V,NP_000240:p.Thr662Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.47761,-0.04694,-0.0899134324351752,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.1016,1.6342,-5.7177,loss_of_function,-2.79948732576308,0.6277093764197614,,,0.7785,pathogenic,-0.035445622,neutral,-0.101195433,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662W,NP_000240:p.Thr662Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15234,0.33197,-0.5651154479778792,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.2714,1.6342,-22.0054,loss_of_function,-3.94935342893573,0.4857572907083063,,,0.9881,pathogenic,-0.086496114,destabilizing,0.103025561,neutral,https://doi.org/10.1101/2022.10.22.513328 +T662Y,NP_000240:p.Thr662Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.13334,0.17483,-0.1945722387153742,Neutral,Neutral,False,0.121,,,,,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,uncertain,,,UP,-,mixed_effects,neutral,,,,90.03,H,-0.2799,1.6342,-22.0054,loss_of_function,-3.94935342893573,0.4857572907083063,,,0.9878,pathogenic,-0.354376142,destabilizing,-0.064168843,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663A,NP_000240:p.Glu663Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01083,-0.1517,-0.0986788554649958,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,89970,Uncertain significance,3,91.97,T,-0.0399,2.1725,-6.3957,loss_of_function,-4.08428681243505,0.46909963364111973,,,0.7598,pathogenic,-0.082968739,destabilizing,-0.207770118,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663C,NP_000240:p.Glu663Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14248,-0.03027,0.2697632898533275,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,91.97,T,-0.1889,2.1725,-22.0054,loss_of_function,-3.65985053820191,0.5214967033631994,,,0.9856,pathogenic,0.214339093,stabilizing,-0.274950143,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663D,NP_000240:p.Glu663Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41437,0.20952,0.0319247263375499,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,"639057, 89980","Pathogenic/Likely pathogenic, Pathogenic","2, 3",91.97,T,0.0014,2.1725,-5.0172,gain_of_function,-1.45446668697195,0.7937534788370384,,,0.8168,pathogenic,0.587415132,stabilizing,-0.056238095,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663F,NP_000240:p.Glu663Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11716,-0.36395,-0.974074676210599,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.1665,2.1725,-22.0054,loss_of_function,-4.59050606134159,0.40660637637290364,,,0.9912,pathogenic,0.707651736,stabilizing,-0.093949681,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663G,NP_000240:p.Glu663Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45742,1.15884,1.1010896582619112,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,89971,Conflicting classifications of pathogenicity,1,91.97,T,-0.0724,2.1725,-7.7176,loss_of_function,-3.33812845294442,0.5612136068319872,,,0.7544,pathogenic,-0.129969687,destabilizing,-0.297610211,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663H,NP_000240:p.Glu663His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19522,-0.11769,-0.6452734714823888,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.0658,2.1725,-3.9628,loss_of_function,-4.59050606134159,0.40660637637290364,,,0.9637,pathogenic,0.064051656,neutral,-0.084967651,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663I,NP_000240:p.Glu663Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18373,-0.93469,-0.5269661605039327,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.1041,2.1725,-8.7175,loss_of_function,-4.11679369465556,0.465086627502017,,,0.9677,pathogenic,0.257083151,stabilizing,-0.410757152,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663K,NP_000240:p.Glu663Lys,"hg19,3:g.37090098G>A",,,0.741,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60195,-0.86327,0.2119386906630221,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,230980,Uncertain significance,2,91.97,T,-0.0543,2.1725,-4.9103,loss_of_function,-2.53398345432765,0.6604860868652092,,,0.7731,pathogenic,-0.405736235,destabilizing,-0.263830141,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663L,NP_000240:p.Glu663Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56046,-0.92687,-0.8601376139762146,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.1011,2.1725,-7.7176,loss_of_function,-3.36536441118621,0.5578513013704167,,,0.9684,pathogenic,0.158023032,stabilizing,-0.303229562,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663M,NP_000240:p.Glu663Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.73157,-0.26361,-0.4189742498846777,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.055,2.1725,-8.7175,loss_of_function,-3.44996087733203,0.5474077855731564,,,0.9551,pathogenic,0.305854719,stabilizing,-0.197912511,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663N,NP_000240:p.Glu663Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09744,0.2432,-0.2292885914323267,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,91.97,T,-0.0571,2.1725,-4.6302,loss_of_function,-1.76630056566077,0.7552572840598935,,,0.9187,pathogenic,0.20434179,stabilizing,-0.184236531,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663P,NP_000240:p.Glu663Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.18556,6.25374,4.760562340903754,Destabilizing,Destabilizing,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,91.97,T,-0.2765,2.1725,-22.0054,loss_of_function,-4.59050606134159,0.40660637637290364,,,0.9984,pathogenic,-1.1663995,destabilizing,-1.10422881,damaging,https://doi.org/10.1101/2022.10.22.513328 +E663Q,NP_000240:p.Glu663Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28694,-0.91565,0.0022420704221015,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,0.0034,2.1725,-3.2914,gain_of_function,-1.72070786524805,0.7608857471469833,,,0.6493,pathogenic,-0.041226948,neutral,-0.247630283,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663R,NP_000240:p.Glu663Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.65004,-0.89728,-0.1842150915116241,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.1143,2.1725,-4.8108,loss_of_function,-2.47236318074507,0.6680931694055354,,,0.8347,pathogenic,-0.292023563,destabilizing,-0.266874862,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663S,NP_000240:p.Glu663Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27427,0.07313,0.5054709054430107,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,91.97,T,-0.0571,2.1725,-7.1327,loss_of_function,-3.48227787389414,0.5434182210027565,,,0.8319,pathogenic,0.090848242,neutral,-0.249987269,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663T,NP_000240:p.Glu663Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66342,-0.32551,0.0151315106177168,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,91.97,T,-0.1489,2.1725,-22.0054,loss_of_function,-4.08428681243505,0.46909963364111973,,,0.8991,pathogenic,-0.11307911,destabilizing,-0.21917108,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663V,NP_000240:p.Glu663Val,"hg19,3:g.37090099A>T",,,0.911,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53875,-1.27619,-0.5914839782767822,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.97,T,-0.0599,2.1725,-7.7176,loss_of_function,-3.36294729928566,0.5581496961789378,,,0.8639,pathogenic,-0.080798614,neutral,-0.098734654,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663W,NP_000240:p.Glu663Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54841,-0.73333,-1.1761442804332172,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.1766,2.1725,-22.0054,loss_of_function,-4.59050606134159,0.40660637637290364,,,0.9976,pathogenic,0.614691366,stabilizing,-0.076440207,neutral,https://doi.org/10.1101/2022.10.22.513328 +E663Y,NP_000240:p.Glu663Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13607,-1.1017,-0.8496170990609125,Neutral,Neutral,False,0.053,,,,,,,Uncertain,Uncertain,Uncertain,49.7,,True,49.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,91.97,T,-0.0783,2.1725,-4.5478,loss_of_function,-4.59050606134159,0.40660637637290364,,,0.9852,pathogenic,0.6922411,stabilizing,-0.091641799,neutral,https://doi.org/10.1101/2022.10.22.513328 +V664A,NP_000240:p.Val664Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42747,2.79864,3.0835430871967167,Uncertain,Uncertain,False,0.043,,-0.01543,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.2521,0.3254,-8.7244,loss_of_function,-3.11633193907994,0.5885946015927879,,,0.8887,pathogenic,-0.348382906,destabilizing,-0.651648871,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664C,NP_000240:p.Val664Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09446,2.56156,2.823896820431362,Uncertain,Uncertain,False,0.043,,-0.00537,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.2681,0.3254,-6.4026,loss_of_function,-4.00581195855445,0.4787874304667823,,,0.9603,pathogenic,-0.314596623,destabilizing,-0.278556108,neutral,https://doi.org/10.1101/2022.10.22.513328 +V664D,NP_000240:p.Val664Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.00354,4.44354,4.567713466138379,Destabilizing,Destabilizing,False,0.043,,-0.01403,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.4865,0.3254,-22.0122,loss_of_function,-4.50429896583661,0.4172487259267291,,,0.9919,pathogenic,-0.990860712,destabilizing,-1.042322253,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664E,NP_000240:p.Val664Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.07756,6.03741,4.963784400141534,Destabilizing,Destabilizing,False,0.043,,-0.01871,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.99,S,-0.4438,0.3254,-22.0122,loss_of_function,-4.50429896583661,0.4172487259267291,,,0.9844,pathogenic,-0.866864754,destabilizing,-0.990720162,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664F,NP_000240:p.Val664Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.25947,6.10136,4.202696455811498,Destabilizing,Destabilizing,False,0.043,,0.00523,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.397,0.3254,-22.0122,loss_of_function,-4.27760863877094,0.4452338666738098,,,0.9724,pathogenic,-0.358362567,destabilizing,-0.910784515,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664G,NP_000240:p.Val664Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.2205,4.57347,5.300880681696262,Destabilizing,Destabilizing,False,0.043,,0.02407,,,0.02079,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,186421,Uncertain significance,2,92.99,S,-0.4457,0.3254,-22.0122,loss_of_function,-4.67578357830714,0.3960787841913849,,,0.8519,pathogenic,-0.489106059,destabilizing,-1.000898455,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664H,NP_000240:p.Val664His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.86511,6.0983,4.50730811109868,Destabilizing,Destabilizing,False,0.043,,-0.00958,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.4895,0.3254,-22.0122,loss_of_function,-4.27760863877094,0.4452338666738098,,,0.9975,pathogenic,-0.685529143,destabilizing,-1.073734182,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664I,NP_000240:p.Val664Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45315,0.93129,0.9500954922406588,Neutral,Neutral,False,0.043,,-8e-05,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.1707,0.3254,-5.4026,loss_of_function,-0.467070962689009,0.9156484386917608,,,0.1742,benign,0.038947855,neutral,-0.073115434,neutral,https://doi.org/10.1101/2022.10.22.513328 +V664K,NP_000240:p.Val664Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.85655,8.62041,6.836231955404961,Destabilizing,Destabilizing,False,0.043,,-0.00845,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.4827,0.3254,-22.0122,loss_of_function,-4.67578357830714,0.3960787841913849,,,0.9907,pathogenic,-1.028285663,destabilizing,-1.065156358,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664L,NP_000240:p.Val664Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38788,1.75918,2.132457544926794,Neutral,Uncertain,False,0.043,,-0.01653,,,0.10739,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.2527,0.3254,-8.7244,loss_of_function,-2.4109977180968,0.6756687952888758,,,0.9338,pathogenic,-0.297167311,destabilizing,-0.746548939,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664M,NP_000240:p.Val664Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97349,4.50748,3.1760142584836712,Uncertain,Uncertain,False,0.043,,-0.01588,,,0.10387,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.3296,0.3254,-22.0122,loss_of_function,-2.96655764590455,0.6070843833539372,,,0.8827,pathogenic,-0.394190786,destabilizing,-0.742225789,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664N,NP_000240:p.Val664Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.54491,3.82925,3.168852593000541,Destabilizing,Destabilizing,False,0.043,,-0.01029,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.4743,0.3254,-22.0122,loss_of_function,-4.50429896583661,0.4172487259267291,,,0.9695,pathogenic,-0.815193079,destabilizing,-1.08746451,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664P,NP_000240:p.Val664Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.09941,7.75816,6.973545279815911,Destabilizing,Destabilizing,False,0.043,,0.00328,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.5242,0.3254,-22.0122,loss_of_function,-4.67578357830714,0.3960787841913849,,,0.9963,pathogenic,0.009913102,neutral,-0.522003776,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664Q,NP_000240:p.Val664Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.52923,5.72075,4.004135484003042,Destabilizing,Destabilizing,False,0.043,,0.0304,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.99,S,-0.4544,0.3254,-22.0122,loss_of_function,-4.50429896583661,0.4172487259267291,,,0.9894,pathogenic,-0.802184934,destabilizing,-1.042228164,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664R,NP_000240:p.Val664Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.91954,6.50238,5.84792520082687,Destabilizing,Destabilizing,False,0.043,,-0.01088,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.5037,0.3254,-22.0122,loss_of_function,-4.67578357830714,0.3960787841913849,,,0.9868,pathogenic,-0.971869785,destabilizing,-0.997794308,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664S,NP_000240:p.Val664Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.65177,3.67245,3.9142351204429695,Destabilizing,Destabilizing,False,0.043,,-0.00762,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.4235,0.3254,-22.0122,loss_of_function,-1.67768991912981,0.7661963543191215,,,0.9302,pathogenic,-0.509369958,destabilizing,-0.980316908,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664T,NP_000240:p.Val664Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.36118,2.14456,2.5950960668505374,Uncertain,Uncertain,False,0.043,,-6e-05,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.99,S,-0.2711,0.3254,-8.7244,loss_of_function,-2.97523951990469,0.6060125975879219,,,0.8198,pathogenic,-0.052088284,neutral,-0.269129253,neutral,https://doi.org/10.1101/2022.10.22.513328 +V664W,NP_000240:p.Val664Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),23.62842,8.93571,6.123351261425812,Destabilizing,Destabilizing,False,0.043,,0.0479,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.4376,0.3254,-22.0122,loss_of_function,-3.84626812675452,0.4984832712467736,,,0.9989,pathogenic,-0.777120566,destabilizing,-1.028456967,damaging,https://doi.org/10.1101/2022.10.22.513328 +V664Y,NP_000240:p.Val664Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.67876,7.6585,5.452570766896431,Destabilizing,Destabilizing,False,0.043,,-0.00185,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.99,S,-0.4405,0.3254,-22.0122,loss_of_function,-4.27760863877094,0.4452338666738098,,,0.995,pathogenic,-0.968345888,destabilizing,-1.049756281,damaging,https://doi.org/10.1101/2022.10.22.513328 +N665A,NP_000240:p.Asn665Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02599,0.32313,1.1830383025015037,Neutral,Neutral,False,0.039,,0.09602,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.29,-,-0.1215,1.504,-8.7244,loss_of_function,-3.41187667757697,0.5521093169714351,,,0.5195,ambiguous,-0.106877025,destabilizing,-0.06774061,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665C,NP_000240:p.Asn665Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12484,1.00816,1.469931856168182,Neutral,Neutral,False,0.039,,0.06868,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.29,-,-0.1714,1.504,-8.7244,loss_of_function,-3.41187667757697,0.5521093169714351,,,0.3413,ambiguous,-0.002975659,neutral,0.0021428,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665D,NP_000240:p.Asn665Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35477,0.01701,0.6917198330296933,Neutral,Neutral,False,0.039,,-0.04228,,,-0.07227,,Uncertain,Uncertain,Neutral,46.6,,True,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,483574,Uncertain significance,2,92.29,-,-0.0898,1.504,-1.8665,loss_of_function,-0.818365494672976,0.8722807879917678,,,0.2197,benign,-0.026766858,neutral,-0.038917572,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665E,NP_000240:p.Asn665Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.72011,1.26531,0.9313394716453408,Neutral,Neutral,False,0.039,,0.04873,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1288,1.504,-4.201,loss_of_function,-0.832636339224076,0.8705190383903983,,,0.6008,pathogenic,0.008688344,neutral,0.034200807,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665F,NP_000240:p.Asn665Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02242,0.82993,0.6045932911084636,Neutral,Neutral,False,0.039,,0.12636,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.2465,1.504,-22.0122,loss_of_function,-3.76629096809276,0.5083565290547815,,,0.8007,pathogenic,0.009141268,neutral,-0.15583731,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665G,NP_000240:p.Asn665Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.50558,1.61327,1.830540219855037,Neutral,Neutral,False,0.039,,0.05559,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.29,-,-0.2201,1.504,-22.0122,loss_of_function,-3.99888916184957,0.47964205643453856,,,0.7002,pathogenic,-0.089795175,destabilizing,-0.176718044,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665H,NP_000240:p.Asn665His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20527,0.24252,0.5369776188270864,Neutral,Neutral,False,0.039,,0.12384,,,-0.01836,,Uncertain,Uncertain,Neutral,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1784004,Uncertain significance,1,92.29,-,-0.1265,1.504,-8.7244,loss_of_function,-3.76629096809276,0.5083565290547815,,,0.2113,benign,-0.032144713,neutral,-0.049496083,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665I,NP_000240:p.Asn665Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44905,0.54966,0.9014313580566066,Neutral,Neutral,False,0.039,,0.09707,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1718,1.504,-8.7244,loss_of_function,-3.99888916184957,0.47964205643453856,,,0.2931,benign,0.032427693,neutral,-0.058136797,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665K,NP_000240:p.Asn665Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42183,0.42585,0.8240143835615629,Neutral,Neutral,False,0.039,,0.07903,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1197,1.504,-7.7244,loss_of_function,-3.33428040285506,0.5616886523478083,,,0.627,pathogenic,-0.130889306,destabilizing,0.014979453,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665L,NP_000240:p.Asn665Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55057,0.24728,0.5342022172511437,Neutral,Neutral,False,0.039,,0.10491,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.246,1.504,-22.0122,loss_of_function,-3.99888916184957,0.47964205643453856,,,0.4443,ambiguous,-0.009874526,neutral,-0.0736874,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665M,NP_000240:p.Asn665Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69779,1.13571,0.9535672169663264,Neutral,Neutral,False,0.039,,0.12939,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1324,1.504,-8.7244,loss_of_function,-3.99888916184957,0.47964205643453856,,,0.5433,ambiguous,0.023833729,neutral,-0.040102145,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665P,NP_000240:p.Asn665Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94922,0.42041,4.94455305083314,Neutral,Uncertain,False,0.039,,0.07896,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.29,-,-0.355,1.504,-22.0122,loss_of_function,-3.18430117658997,0.5802037332976492,,,0.919,pathogenic,-0.153589132,destabilizing,-0.257891661,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665Q,NP_000240:p.Asn665Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29982,0.29456,1.0368744367790086,Neutral,Neutral,False,0.039,,0.06874,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1833,1.504,-22.0122,loss_of_function,-2.53872103795841,0.6599012275709285,,,0.5747,pathogenic,-0.023033331,neutral,0.003893135,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665R,NP_000240:p.Asn665Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98589,0.09524,0.6949453682488357,Neutral,Neutral,False,0.039,,0.08359,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1518,1.504,-7.7244,loss_of_function,-3.65813896702903,0.5217079984845736,,,0.593,pathogenic,-0.082601085,destabilizing,-0.083729021,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665S,NP_000240:p.Asn665Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40604,1.22755,1.2358830934352218,Neutral,Neutral,False,0.039,,0.07621,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.29,-,-0.0812,1.504,-6.7245,loss_of_function,-1.26270175813196,0.817427045298418,,,0.1373,benign,-0.042608147,neutral,-0.009914499,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665T,NP_000240:p.Asn665Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04561,1.33265,1.301617530240306,Neutral,Neutral,False,0.039,,0.09308,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.29,-,-0.1329,1.504,-7.1395,loss_of_function,-2.5342902693538,0.6604482102526458,,,0.3287,benign,-0.077223948,neutral,0.057201887,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665V,NP_000240:p.Asn665Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90967,0.10714,0.8430604604721178,Neutral,Neutral,False,0.039,,0.09662,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.1571,1.504,-7.1395,loss_of_function,-3.99888916184957,0.47964205643453856,,,0.3074,benign,0.015807855,neutral,0.065046653,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665W,NP_000240:p.Asn665Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27676,1.32041,0.545139438984257,Neutral,Neutral,False,0.039,,0.12757,,,,,Uncertain,Uncertain,Uncertain,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.29,-,-0.2516,1.504,-22.0122,loss_of_function,-3.76629096809276,0.5083565290547815,,,0.9312,pathogenic,0.084078725,neutral,-0.154898549,neutral,https://doi.org/10.1101/2022.10.22.513328 +N665Y,NP_000240:p.Asn665Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03592,0.80102,0.6916850456012896,Neutral,Neutral,False,0.039,,0.11094,,,-0.21546,,Uncertain,Uncertain,Neutral,46.6,,True,46.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1878282,Uncertain significance,1,92.29,-,-0.2301,1.504,-22.0122,loss_of_function,-3.76629096809276,0.5083565290547815,,,0.3698,ambiguous,-0.012356244,neutral,-0.185252571,neutral,https://doi.org/10.1101/2022.10.22.513328 +W666A,NP_000240:p.Trp666Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.40843,5.24864,4.895910108296382,Destabilizing,Destabilizing,False,0.036,,0.1471,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5733,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9936,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666C,NP_000240:p.Trp666Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.09123,4.62857,5.405355428775474,Destabilizing,Destabilizing,False,0.036,,0.15012,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5091,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9965,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666D,NP_000240:p.Trp666Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.64039,5.88435,5.992051465696268,Destabilizing,Destabilizing,False,0.036,,0.0791,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5976,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666E,NP_000240:p.Trp666Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.79587,5.36088,5.40757213698501,Destabilizing,Destabilizing,False,0.036,,0.08888,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.6171,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666F,NP_000240:p.Trp666Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.00341,0.99456,1.4361975611527895,Uncertain,Uncertain,False,0.036,,0.06753,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.4258,0.0241,-22.0156,loss_of_function,-2.58769853087856,0.6538549085658283,,,0.8331,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666G,NP_000240:p.Trp666Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.73179,5.96803,6.231787804478268,Destabilizing,Destabilizing,False,0.036,,0.11079,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5584,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9647,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666H,NP_000240:p.Trp666His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.72729,2.78707,3.3813125794775627,Uncertain,Destabilizing,False,0.036,,0.25616,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5616,0.0241,-22.0156,loss_of_function,-3.04761637543695,0.5970776045729148,,,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666I,NP_000240:p.Trp666Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.94907,5.80816,4.33307698524902,Destabilizing,Destabilizing,False,0.036,,0.15841,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.4913,0.0241,-8.7278,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9889,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666K,NP_000240:p.Trp666Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07878,5.56735,5.392434042137035,Destabilizing,Destabilizing,False,0.036,,0.10251,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.6291,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9992,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666L,NP_000240:p.Trp666Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45083,4.27755,3.450114847140194,Uncertain,Uncertain,False,0.036,,0.00918,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5206,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9647,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666M,NP_000240:p.Trp666Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54698,2.43707,3.685462258316945,Uncertain,Uncertain,False,0.036,,0.09947,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5328,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9897,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666N,NP_000240:p.Trp666Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.55255,4.33027,4.963718582810068,Destabilizing,Destabilizing,False,0.036,,0.10399,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.6058,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9985,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666P,NP_000240:p.Trp666Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76485,6.59286,7.67831816972835,Destabilizing,Destabilizing,False,0.036,,0.08212,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.644,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9984,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666Q,NP_000240:p.Trp666Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.99047,4.40374,4.835244745482867,Destabilizing,Destabilizing,False,0.036,,0.06798,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5966,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9991,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666R,NP_000240:p.Trp666Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.8686,4.29388,4.857502723477417,Uncertain,Uncertain,False,0.036,,0.04774,,,-0.18285,,,,Neutral,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2673628,Likely pathogenic,1,92.68,-,-0.5571,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9979,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666S,NP_000240:p.Trp666Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.66048,5.82143,5.724868804921323,Destabilizing,Destabilizing,False,0.036,,0.12623,,,-0.13874,,,,Neutral,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,619554,Uncertain significance,1,92.68,-,-0.5714,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666T,NP_000240:p.Trp666Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.37588,4.55068,5.397369152435656,Destabilizing,Destabilizing,False,0.036,,0.13772,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.615,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666V,NP_000240:p.Trp666Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.59476,4.84864,4.6125718996432905,Destabilizing,Destabilizing,False,0.036,,0.13378,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.5508,0.0241,-22.0156,loss_of_function,-4.80632322271416,0.3799635384767055,,,0.9864,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +W666Y,NP_000240:p.Trp666Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6327,1.55034,1.696094785329208,Neutral,Neutral,False,0.036,,0.07505,,,,,,,,8.0,,True,8.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.68,-,-0.4738,0.0241,-22.0156,loss_of_function,-1.9449489471659,0.7332029680889659,,,0.934,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +D667A,NP_000240:p.Asp667Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1124,0.54456,0.3144449438206548,Neutral,Neutral,False,0.028,,0.09718,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.34,S,-0.0572,2.3305,-7.1395,loss_of_function,-2.12505515135578,0.7109686824936385,,,0.5345,ambiguous,-0.12994401,destabilizing,0.153501872,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667C,NP_000240:p.Asp667Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49323,0.89354,0.9916440120209916,Neutral,Neutral,False,0.028,,0.08217,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.34,S,-0.1746,2.3305,-22.0122,loss_of_function,-2.849191874965,0.6215733016114925,,,0.8975,pathogenic,-0.06154788,neutral,-0.093544188,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667E,NP_000240:p.Asp667Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0289,0.08537,-0.0652581498432791,Neutral,Neutral,False,0.028,,-0.01439,,,0.04068,,Uncertain,Uncertain,Neutral,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,820516,Uncertain significance,2,90.34,S,0.0218,2.3305,-2.4577,gain_of_function,-0.464736164430634,0.915936671801318,,,0.3516,ambiguous,-0.015521876,neutral,-0.001225179,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667F,NP_000240:p.Asp667Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00442,-0.1085,-0.1474717795690328,Neutral,Neutral,False,0.028,,0.12716,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1603,2.3305,-7.7244,loss_of_function,-3.49176125876203,0.5422474879427184,,,0.8695,pathogenic,0.094298686,neutral,-0.007992901,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667G,NP_000240:p.Asp667Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23688,0.75578,0.7744786695564884,Neutral,Neutral,False,0.028,,0.02591,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.34,S,-0.0713,2.3305,-7.7244,loss_of_function,-2.47126712627647,0.6682284783927662,,,0.4249,ambiguous,-0.178219847,destabilizing,-0.028186288,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667H,NP_000240:p.Asp667His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24005,-0.09388,-0.1869599277007966,Neutral,Neutral,False,0.028,,0.12482,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.0695,2.3305,-7.7244,loss_of_function,-3.13818059652707,0.5858973636395534,,,0.7143,pathogenic,-0.166294777,destabilizing,0.018596401,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667I,NP_000240:p.Asp667Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30293,0.82143,0.1750363118494019,Neutral,Neutral,False,0.028,,0.07518,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.2254,2.3305,-22.0122,loss_of_function,-3.49176125876203,0.5422474879427184,,,0.7463,pathogenic,0.063856317,neutral,0.004920407,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667K,NP_000240:p.Asp667Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26711,0.00918,0.0728144775786848,Neutral,Neutral,False,0.028,,0.17815,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1228,2.3305,-6.1395,loss_of_function,-2.28035281903921,0.6917970347922563,,,0.7485,pathogenic,-0.217307631,destabilizing,-0.153376299,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667L,NP_000240:p.Asp667Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27518,0.09014,-0.2123615105716325,Neutral,Neutral,False,0.028,,0.10863,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1432,2.3305,-7.1395,loss_of_function,-2.7230944388915,0.6371401523988249,,,0.7253,pathogenic,0.022765708,neutral,-0.009502055,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667M,NP_000240:p.Asp667Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06128,0.70748,0.0754505204667693,Neutral,Neutral,False,0.028,,0.1282,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.0819,2.3305,-7.1395,loss_of_function,-3.49176125876203,0.5422474879427184,,,0.8405,pathogenic,0.071508606,neutral,0.141019582,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667N,NP_000240:p.Asp667Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1016,-0.14082,-0.0014415563793584,Neutral,Neutral,False,0.028,,0.10266,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.34,S,-0.0096,2.3305,-4.3322,loss_of_function,-1.11043810082103,0.8362241414765765,,,0.3093,benign,-0.095347786,destabilizing,-0.039797642,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667P,NP_000240:p.Asp667Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71175,4.32007,2.355310608870675,Uncertain,Uncertain,False,0.028,,0.11041,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.34,S,-0.27,2.3305,-22.0122,loss_of_function,-3.81815526740367,0.501953831000779,,,0.9753,pathogenic,-0.109143165,destabilizing,-0.634195849,damaging,https://doi.org/10.1101/2022.10.22.513328 +D667Q,NP_000240:p.Asp667Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39494,0.26395,0.285515452631313,Neutral,Neutral,False,0.028,,0.08792,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.0804,2.3305,-6.4026,loss_of_function,-1.52772470735277,0.7847097051668197,,,0.7145,pathogenic,-0.105228413,destabilizing,0.053033827,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667R,NP_000240:p.Asp667Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30691,0.43095,-0.0032555447715065,Neutral,Neutral,False,0.028,,0.18506,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1619,2.3305,-7.7244,loss_of_function,-1.97090639948662,0.7299984954233961,,,0.7456,pathogenic,-0.121212951,destabilizing,-0.094656367,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667S,NP_000240:p.Asp667Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06343,-0.28878,0.262509094052491,Neutral,Neutral,False,0.028,,0.07977,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,90.34,S,-0.0489,2.3305,-4.2651,loss_of_function,-1.73475168255133,0.7591520242795549,,,0.423,ambiguous,-0.114829312,destabilizing,0.016258157,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667T,NP_000240:p.Asp667Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27933,-0.44524,0.2516786328217352,Neutral,Neutral,False,0.028,,0.0796,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.34,S,-0.0716,2.3305,-2.8176,loss_of_function,-1.77873891697959,0.7537217575254156,,,0.6065,pathogenic,-0.042411719,neutral,-0.149992624,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667V,NP_000240:p.Asp667Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35677,0.82653,0.2603484861749849,Neutral,Neutral,False,0.028,,0.07853,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1021,2.3305,-6.7245,loss_of_function,-2.86376237205066,0.6197745596140934,,,0.5186,ambiguous,-0.038771516,neutral,0.090365835,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667W,NP_000240:p.Asp667Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35197,-0.72007,-0.4435850317048528,Neutral,Neutral,False,0.028,,0.09369,,,,,Uncertain,Uncertain,Uncertain,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.2137,2.3305,-22.0122,loss_of_function,-3.49176125876203,0.5422474879427184,,,0.9504,pathogenic,0.125210528,stabilizing,0.111937495,neutral,https://doi.org/10.1101/2022.10.22.513328 +D667Y,NP_000240:p.Asp667Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02885,-0.20102,-0.0538850881787311,Neutral,Neutral,False,0.028,,0.15621,,,0.03947,,Uncertain,Uncertain,Neutral,104.2,,False,104.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.34,S,-0.1103,2.3305,-8.7244,loss_of_function,-3.49176125876203,0.5422474879427184,,,0.4761,ambiguous,0.056080033,neutral,-0.132732524,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668A,NP_000240:p.Glu668Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.67397,0.06735,0.282313881932103,Uncertain,Uncertain,False,0.036,,-0.03752,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,0.016,2.7046,-5.0275,gain_of_function,-0.367733915984727,0.9279116934561044,,,0.1583,benign,-0.048857838,neutral,-0.002110972,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668C,NP_000240:p.Glu668Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.05755,0.58878,0.7249513843014221,Uncertain,Uncertain,False,0.036,,-0.04492,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,-0.0722,2.7046,-8.7278,loss_of_function,-2.19363428145236,0.7025025223671452,,,0.795,pathogenic,-0.032193661,neutral,0.054496902,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668D,NP_000240:p.Glu668Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82591,-0.08197,0.2010671697060384,Neutral,Neutral,False,0.036,,-0.09819,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,0.0619,2.7046,-2.7506,gain_of_function,-0.077589613966782,0.9637302889561383,,,0.1613,benign,-0.025583539,neutral,-0.044238258,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668F,NP_000240:p.Glu668Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92857,0.11973,-0.1289751415360779,Uncertain,Uncertain,False,0.036,,0.06959,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.0396,2.7046,-6.7279,loss_of_function,-1.84415271933006,0.7456463601792849,,,0.7674,pathogenic,0.223896602,stabilizing,0.062617191,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668G,NP_000240:p.Glu668Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.95915,1.97687,1.1583509975884654,Uncertain,Uncertain,False,0.036,,-0.13413,,,0.8602,,Uncertain,Uncertain,Neutral,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,627755,Uncertain significance,2,91.61,S,-0.0143,2.7046,-5.9206,loss_of_function,-0.904542227624861,0.8616421867245709,,,0.182,benign,-0.099672193,destabilizing,-0.142740184,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668H,NP_000240:p.Glu668His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53094,0.31122,-0.1671165481386471,Uncertain,Uncertain,False,0.036,,0.01353,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.0293,2.7046,-6.406,loss_of_function,-1.5093493331808,0.786978162930939,,,0.4678,ambiguous,-0.081687471,destabilizing,-0.089609254,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668I,NP_000240:p.Glu668Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93501,-0.70578,-0.2723831235184798,Uncertain,Uncertain,False,0.036,,-0.02344,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.045,2.7046,-6.7279,loss_of_function,-1.82592816071862,0.747896199616178,,,0.3925,ambiguous,0.026425949,neutral,0.098036532,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668K,NP_000240:p.Glu668Lys,"hg19,3:g.37090407G>A, hg38,3:g.37048916G>A",,3.9815891319e-06,0.409,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41129,0.18605,0.1388224500819534,Uncertain,Uncertain,False,0.036,,0.02902,,,0.63332,,Uncertain,Uncertain,Neutral,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,187389,Uncertain significance,2,91.61,S,-0.0087,2.7046,-5.558,loss_of_function,-0.902355107865295,0.8619121887802143,,,0.1354,benign,-0.11331064,destabilizing,-0.018748772,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668L,NP_000240:p.Glu668Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.29432,0.13299,-0.2875066389624808,Uncertain,Uncertain,False,0.036,,0.0235,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.0522,2.7046,-7.7279,loss_of_function,-2.52434085984775,0.6616764745062701,,,0.4133,ambiguous,0.09035457,neutral,-0.054363502,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668M,NP_000240:p.Glu668Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.71769,0.84014,-0.0614209831875234,Uncertain,Uncertain,False,0.036,,0.09713,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.0061,2.7046,-8.7278,loss_of_function,-2.52434085984775,0.6616764745062701,,,0.4234,ambiguous,0.081912808,neutral,-0.074785306,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668N,NP_000240:p.Glu668Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70418,-0.13537,0.0561708073842853,Neutral,Neutral,False,0.036,,0.00785,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,-0.0012,2.7046,-3.2685,loss_of_function,-0.277102207059144,0.9391002658282114,,,0.2709,benign,-0.039086937,neutral,-0.080495773,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668P,NP_000240:p.Glu668Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.22645,5.84354,3.679661453339254,Destabilizing,Destabilizing,False,0.036,,-0.0512,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,-0.2276,2.7046,-22.0156,loss_of_function,-2.93877842289053,0.6105137553785613,,,0.9563,pathogenic,-0.291836189,destabilizing,-0.31369844,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668Q,NP_000240:p.Glu668Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.5098,0.87211,0.2027792249577287,Uncertain,Uncertain,False,0.036,,0.03735,,,0.62974,,Uncertain,Uncertain,Neutral,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,0.0349,2.7046,-6.7279,gain_of_function,-0.288939743299379,0.9376389104979257,,,0.1556,benign,-0.002088567,neutral,0.067387369,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668R,NP_000240:p.Glu668Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.08591,0.41327,-0.0464387507556635,Uncertain,Uncertain,False,0.036,,0.09063,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.1532,2.7046,-22.0156,loss_of_function,-0.924767037895808,0.8591454142802334,,,0.2339,benign,-0.057053842,neutral,-0.057653137,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668S,NP_000240:p.Glu668Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.7019,0.58027,0.4920754440084102,Uncertain,Uncertain,False,0.036,,-0.06559,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,0.0161,2.7046,-2.3881,gain_of_function,-0.645188567670386,0.8936596475974996,,,0.2043,benign,-0.035429651,neutral,0.004122485,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668T,NP_000240:p.Glu668Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97615,0.10544,0.2115744415903059,Uncertain,Uncertain,False,0.036,,-0.00416,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.61,S,-0.0109,2.7046,-4.558,loss_of_function,-0.928172628848735,0.8587249907739537,,,0.2227,benign,-0.013432312,neutral,-0.076798461,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668V,NP_000240:p.Glu668Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.1776,-0.74048,-0.2222468303385505,Uncertain,Uncertain,False,0.036,,-0.09323,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.61,S,-0.0059,2.7046,-6.7279,loss_of_function,-1.57954189543456,0.7783128230397461,,,0.2149,benign,0.11971165,stabilizing,-0.016683766,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668W,NP_000240:p.Glu668Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76579,0.56769,-0.4437728627608345,Uncertain,Uncertain,False,0.036,,-0.0899,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.1277,2.7046,-22.0156,loss_of_function,-2.65740051584296,0.6452501309168263,,,0.9056,pathogenic,0.399810756,stabilizing,-0.121327288,neutral,https://doi.org/10.1101/2022.10.22.513328 +E668Y,NP_000240:p.Glu668Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.13999,-0.41667,-0.1583508170703085,Uncertain,Uncertain,False,0.036,,0.00641,,,,,Uncertain,Uncertain,Uncertain,76.3,,False,76.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.61,S,-0.1185,2.7046,-22.0156,loss_of_function,-2.65740051584296,0.6452501309168263,,,0.6563,pathogenic,0.259985838,stabilizing,-0.030031332,neutral,https://doi.org/10.1101/2022.10.22.513328 +E669A,NP_000240:p.Glu669Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77306,0.27721,0.3210852326202934,Neutral,Neutral,False,0.069,,-0.20322,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.3151,0.0481,-22.0156,loss_of_function,-4.15608644119899,0.46023589983052393,,,0.9768,pathogenic,-0.173259868,destabilizing,-0.708010209,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669C,NP_000240:p.Glu669Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19941,1.09286,1.0904324894329438,Neutral,Neutral,False,0.069,,-0.24027,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.3845,0.0481,-22.0156,loss_of_function,-4.6073725290338,0.404524194577225,,,0.999,pathogenic,-0.089173753,destabilizing,-0.86770362,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669D,NP_000240:p.Glu669Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14388,0.39932,0.4752485043785415,Neutral,Neutral,False,0.069,,0.61158,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.2808,0.0481,-22.0156,loss_of_function,-3.10373395742091,0.5901498346475929,,,0.9845,pathogenic,-0.10473981,destabilizing,-0.485809566,neutral,https://doi.org/10.1101/2022.10.22.513328 +E669F,NP_000240:p.Glu669Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20274,0.23571,-0.0635508356398772,Neutral,Neutral,False,0.069,,-0.33421,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3621,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9997,pathogenic,-0.057208101,neutral,-1.185996816,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669G,NP_000240:p.Glu669Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48267,1.38095,1.4455130889343757,Neutral,Neutral,False,0.069,,0.27909,,,0.43513,,Uncertain,Uncertain,Neutral,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1006114,Uncertain significance,1,91.94,H,-0.3408,0.0481,-22.0156,loss_of_function,-4.38510602447051,0.4319632101456458,,,0.9516,pathogenic,-0.033572924,neutral,-0.557996531,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669H,NP_000240:p.Glu669His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91426,0.81463,-0.0246973751687018,Neutral,Neutral,False,0.069,,0.26253,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3534,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9991,pathogenic,-0.062550147,neutral,-0.873325229,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669I,NP_000240:p.Glu669Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14933,0.44592,-0.4204483073873177,Neutral,Neutral,False,0.069,,-1.24744,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3674,0.0481,-22.0156,loss_of_function,-3.8939009026956,0.4926029588570036,,,0.9956,pathogenic,-0.12375321,destabilizing,-0.939293257,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669K,NP_000240:p.Glu669Lys,"hg19,3:g.37090410G>A",,,0.929,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03224,0.25952,0.2764406330688201,Neutral,Neutral,False,0.069,,-0.08365,,,-0.0269,,Uncertain,Uncertain,Neutral,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,1391383,Uncertain significance,2,91.94,H,-0.3371,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9737,pathogenic,-0.211602672,destabilizing,-0.78657589,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669L,NP_000240:p.Glu669Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24967,-0.14048,-0.5037641019779937,Neutral,Neutral,False,0.069,,-1.13941,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3696,0.0481,-22.0156,loss_of_function,-4.47515042457821,0.42084714161674713,,,0.997,pathogenic,-0.072662441,neutral,-0.91073642,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669M,NP_000240:p.Glu669Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.66993,-0.22823,-0.028142261145303,Neutral,Neutral,False,0.069,,-0.76618,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3184,0.0481,-22.0156,loss_of_function,-4.47515042457821,0.42084714161674713,,,0.9965,pathogenic,-0.077559545,neutral,-0.856495221,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669N,NP_000240:p.Glu669Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69575,0.70102,0.4259346719258045,Neutral,Neutral,False,0.069,,0.14386,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.3413,0.0481,-22.0156,loss_of_function,-3.10373395742091,0.5901498346475929,,,0.997,pathogenic,-0.137366821,destabilizing,-0.770733281,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669P,NP_000240:p.Glu669Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.73105,0.27687,1.039867829472764,Neutral,Neutral,False,0.069,,-0.96966,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.4721,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9962,pathogenic,-0.191107601,destabilizing,-0.521375591,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669Q,NP_000240:p.Glu669Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11165,-0.12041,0.2319928680617339,Neutral,Neutral,False,0.069,,0.08652,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.2876,0.0481,-22.0156,loss_of_function,-3.10373395742091,0.5901498346475929,,,0.9687,pathogenic,-0.324381258,destabilizing,-0.451600426,neutral,https://doi.org/10.1101/2022.10.22.513328 +E669R,NP_000240:p.Glu669Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38843,0.27789,0.0001744723451041,Neutral,Neutral,False,0.069,,0.44614,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3298,0.0481,-8.7278,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9872,pathogenic,-0.110987819,destabilizing,-0.912738078,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669S,NP_000240:p.Glu669Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22421,-0.01497,0.6388060787150798,Neutral,Neutral,False,0.069,,0.14968,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.3285,0.0481,-22.0156,loss_of_function,-4.6073725290338,0.404524194577225,,,0.9917,pathogenic,-0.067117836,neutral,-0.512449892,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669T,NP_000240:p.Glu669Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85214,0.01837,0.3188808701161377,Neutral,Neutral,False,0.069,,0.04834,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,91.94,H,-0.2766,0.0481,-8.7278,loss_of_function,-4.6073725290338,0.404524194577225,,,0.9938,pathogenic,-0.163427003,destabilizing,-0.665409305,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669V,NP_000240:p.Glu669Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64517,0.05238,-0.2304400669989981,Neutral,Neutral,False,0.069,,-1.16471,,,0.29712,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,-,-,uncertain,neutral,2773585,Uncertain significance,1,91.94,H,-0.3283,0.0481,-22.0156,loss_of_function,-4.47515042457821,0.42084714161674713,,,0.986,pathogenic,-0.142425125,destabilizing,-0.992740571,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669W,NP_000240:p.Glu669Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01771,-0.89762,-0.5155879870543079,Neutral,Neutral,False,0.069,,-0.33039,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3722,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.9998,pathogenic,0.078252507,neutral,-0.991895991,damaging,https://doi.org/10.1101/2022.10.22.513328 +E669Y,NP_000240:p.Glu669Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52362,0.1017,-0.0197366324786768,Neutral,Neutral,False,0.069,,-0.25811,,,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.94,H,-0.3629,0.0481,-22.0156,loss_of_function,-4.89173733383265,0.36941908361452125,,,0.999,pathogenic,0.008306035,neutral,-0.995259893,damaging,https://doi.org/10.1101/2022.10.22.513328 +K670A,NP_000240:p.Lys670Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97765,1.38605,0.5580046270028932,Neutral,Neutral,False,0.08,,0.0123,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0721,1.8163,-5.9171,loss_of_function,-2.54457543479702,0.6591784966029226,,,0.5239,ambiguous,0.048123031,neutral,-0.119363541,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670C,NP_000240:p.Lys670Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.49706,1.71565,0.9516143827738356,Neutral,Neutral,False,0.08,,-0.00609,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.1566,1.8163,-8.7244,loss_of_function,-3.42706689230794,0.5502340702296479,,,0.8536,pathogenic,-0.005462637,neutral,-0.173032437,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670D,NP_000240:p.Lys670Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.48426,1.97721,1.1336358490098093,Uncertain,Uncertain,False,0.08,,-0.36507,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.1954,1.8163,-8.7244,loss_of_function,-2.71528188603891,0.6381046196260057,,,0.8374,pathogenic,-0.108721019,destabilizing,-0.385169648,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670E,NP_000240:p.Lys670Glu,"hg19,3:g.37090413A>G",,,0.538,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95411,1.49864,0.6000511439178502,Neutral,Neutral,False,0.08,,-0.43231,,,-0.09627,,Uncertain,Uncertain,Neutral,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0849,1.8163,-3.5546,loss_of_function,-1.24061923005581,0.8201531548076402,,,0.2126,benign,0.019753087,neutral,-0.190735917,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670F,NP_000240:p.Lys670Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86676,-0.48265,-0.6381524066051197,Neutral,Neutral,False,0.08,,-0.0344,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.18,H,-0.2253,1.8163,-22.0122,loss_of_function,-3.63786671536522,0.5242106276148744,,,0.8945,pathogenic,-0.010134597,neutral,-0.219017626,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670G,NP_000240:p.Lys670Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69344,2.14966,1.6610592545676754,Uncertain,Neutral,False,0.08,,-0.03563,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.1456,1.8163,-8.7244,loss_of_function,-2.81894396561673,0.6253074353585006,,,0.6174,pathogenic,-0.04424041,neutral,-0.370594051,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670H,NP_000240:p.Lys670His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.84901,0.73061,0.0280104812605469,Neutral,Neutral,False,0.08,,0.01459,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0965,1.8163,-8.7244,loss_of_function,-3.26315490112686,0.5704691645219946,,,0.5829,pathogenic,-0.035036948,neutral,-0.201204058,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670I,NP_000240:p.Lys670Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44157,0.41054,-0.550105684802934,Neutral,Neutral,False,0.08,,0.01549,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.18,H,-0.1116,1.8163,-6.1395,loss_of_function,-2.37577025874422,0.6800176593136669,,,0.4515,ambiguous,0.077168952,neutral,-0.200293909,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670L,NP_000240:p.Lys670Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20029,0.1432,-0.7264093090533419,Neutral,Neutral,False,0.08,,-0.0558,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.18,H,-0.1073,1.8163,-5.5546,loss_of_function,-1.71793940169551,0.7612275166577245,,,0.4951,ambiguous,0.012618303,neutral,-0.010115883,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670M,NP_000240:p.Lys670Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08139,0.67585,-0.1418895337704201,Neutral,Neutral,False,0.08,,-0.07329,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0812,1.8163,-5.7245,loss_of_function,-2.46508772344561,0.6689913316657443,,,0.2577,benign,0.044313522,neutral,-0.107312855,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670N,NP_000240:p.Lys670Asn,"hg19,3:g.37090415G>T, hg38,3:g.37048924G>T",,,0.760,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44988,1.88639,0.6873741817424678,Neutral,Neutral,False,0.08,,0.00058,,,0.00326,,Uncertain,Uncertain,Neutral,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"2446169, 820527","Uncertain significance, Uncertain significance","1, 1",92.18,H,-0.0995,1.8163,-7.7244,loss_of_function,-2.98697674641188,0.6045636255914727,,,0.6723,pathogenic,-0.012950401,neutral,-0.562399178,damaging,https://doi.org/10.1101/2022.10.22.513328 +K670P,NP_000240:p.Lys670Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55535,5.03367,1.1833394538437954,Uncertain,Neutral,False,0.08,,0.23669,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.3285,1.8163,-22.0122,loss_of_function,-4.02295166049171,0.47667151763853755,,,0.9279,pathogenic,-0.086167494,destabilizing,-0.531173694,damaging,https://doi.org/10.1101/2022.10.22.513328 +K670Q,NP_000240:p.Lys670Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63211,1.11973,0.4005785154024821,Neutral,Neutral,False,0.08,,-0.01711,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0601,1.8163,-3.7245,loss_of_function,-0.709027913975822,0.8857786183772202,,,0.1693,benign,0.029427246,neutral,0.155342304,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670R,NP_000240:p.Lys670Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49713,0.86122,-0.2029498318417116,Neutral,Neutral,False,0.08,,0.05408,,,0.11522,,Uncertain,Uncertain,Neutral,35.5,,False,35.5,,neutral,neutral,neutral,-,-,uncertain,neutral,422767,Uncertain significance,2,92.18,H,-0.0006,1.8163,-4.9172,loss_of_function,-0.271119296284559,0.9398388619662613,,,0.0995,benign,-0.075906995,neutral,0.077281017,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670S,NP_000240:p.Lys670Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57156,1.45646,0.906691199979139,Neutral,Neutral,False,0.08,,0.00799,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0864,1.8163,-6.7245,loss_of_function,-2.47319180446105,0.6679908750041014,,,0.6467,pathogenic,-0.036610173,neutral,-0.118913802,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670T,NP_000240:p.Lys670Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35624,0.59694,0.4646562823484507,Neutral,Neutral,False,0.08,,0.03646,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.0931,1.8163,-5.7245,loss_of_function,-1.695195914356,0.7640352222290843,,,0.3036,benign,-0.055956529,neutral,-0.191886033,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670V,NP_000240:p.Lys670Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77602,0.86395,-0.3203134800776536,Neutral,Neutral,False,0.08,,0.0524,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,92.18,H,-0.1764,1.8163,-22.0122,loss_of_function,-3.32272155254014,0.5631156036303118,,,0.4254,ambiguous,0.079724042,neutral,-0.190980282,neutral,https://doi.org/10.1101/2022.10.22.513328 +K670W,NP_000240:p.Lys670Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77618,0.16837,-0.8270405079826132,Neutral,Neutral,False,0.08,,-0.03228,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.18,H,-0.2343,1.8163,-22.0122,loss_of_function,-3.63786671536522,0.5242106276148744,,,0.8651,pathogenic,0.184181537,stabilizing,-0.536957745,damaging,https://doi.org/10.1101/2022.10.22.513328 +K670Y,NP_000240:p.Lys670Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40737,-0.41633,-0.4122070285400342,Neutral,Neutral,False,0.08,,0.0191,,,,,Uncertain,Uncertain,Uncertain,35.5,,False,35.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.18,H,-0.2102,1.8163,-22.0122,loss_of_function,-3.63786671536522,0.5242106276148744,,,0.794,pathogenic,0.128323353,stabilizing,-0.06963586,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671A,NP_000240:p.Glu671Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20353,-0.51395,0.5609306877841699,Neutral,Neutral,False,0.101,,0.05273,,,0.0786,,Uncertain,Uncertain,Neutral,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1399417,Uncertain significance,1,92.48,H,-0.01,2.3205,-3.2044,loss_of_function,-0.477832269986683,0.914319944868287,,,0.0792,benign,-0.040265313,neutral,-0.01769123,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671C,NP_000240:p.Glu671Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86118,0.5949,1.3036174453884852,Neutral,Neutral,False,0.101,,0.00265,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,-0.1754,2.3205,-22.0156,loss_of_function,-2.37070389345359,0.6806431070227494,,,0.6679,pathogenic,0.000260099,neutral,-0.104067616,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671D,NP_000240:p.Glu671Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00627,0.21803,0.5257970264726047,Neutral,Neutral,False,0.101,,0.04454,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,0.0234,2.3205,-3.3704,gain_of_function,-0.0630461043556739,0.9655256993236282,,,0.127,benign,-0.002856271,neutral,0.018759961,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671F,NP_000240:p.Glu671Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14615,0.27789,0.3851381234085499,Neutral,Neutral,False,0.101,,-0.00604,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.153,2.3205,-22.0156,loss_of_function,-2.90322815791821,0.6149024700702039,,,0.6281,pathogenic,0.133771998,stabilizing,-0.149758724,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671G,NP_000240:p.Glu671Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23336,1.01497,1.3109472238736348,Neutral,Neutral,False,0.101,,0.02487,,,0.67908,,Uncertain,Uncertain,Neutral,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,219626,Uncertain significance,2,92.48,H,-0.0376,2.3205,-3.558,loss_of_function,-1.30952535997266,0.8116466262361716,,,0.1029,benign,-0.022711844,neutral,-0.046166419,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671H,NP_000240:p.Glu671His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81425,0.28129,0.2649260780206458,Neutral,Neutral,False,0.101,,0.00564,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.1443,2.3205,-22.0156,loss_of_function,-2.90322815791821,0.6149024700702039,,,0.4195,ambiguous,-0.050315288,neutral,-0.149652623,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671I,NP_000240:p.Glu671Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05464,0.0449,0.3047807630544918,Neutral,Neutral,False,0.101,,0.02605,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.0905,2.3205,-8.7278,loss_of_function,-2.6748222989801,0.643099394890861,,,0.2157,benign,-0.095576374,destabilizing,-0.051289418,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671K,NP_000240:p.Glu671Lys,"hg38,3:g.37048925G>A",,,0.694,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10436,-0.71429,0.5486395003819755,Neutral,Neutral,False,0.101,,0.03445,,,-0.16367,,Uncertain,Uncertain,Neutral,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.0459,2.3205,-5.9206,loss_of_function,-1.56770018080648,0.779774694196064,,,0.1338,benign,-0.093980294,destabilizing,-0.017900515,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671L,NP_000240:p.Glu671Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2864,-0.51497,0.0693661184822963,Neutral,Neutral,False,0.101,,-0.00457,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.0876,2.3205,-7.7279,loss_of_function,-1.64086945519762,0.7707418763043477,,,0.2336,benign,-0.005110748,neutral,-0.058952251,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671M,NP_000240:p.Glu671Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.49927,-0.40612,0.3598654900381365,Neutral,Neutral,False,0.101,,0.00318,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.0415,2.3205,-8.7278,loss_of_function,-2.6748222989801,0.643099394890861,,,0.3142,benign,-0.148142576,destabilizing,-0.025162079,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671N,NP_000240:p.Glu671Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80432,0.08469,0.7385795499751502,Neutral,Neutral,False,0.101,,0.00549,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,-0.0467,2.3205,-5.2685,loss_of_function,-1.19307615236256,0.8260223938617158,,,0.2312,benign,-0.07442102,neutral,0.050978324,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671P,NP_000240:p.Glu671Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5285,3.67755,1.8744185802713176,Uncertain,Neutral,False,0.101,,-0.08417,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,-0.1699,2.3205,-3.7737,loss_of_function,-0.674552322993946,0.8900346635223979,,,0.2918,benign,0.154437687,stabilizing,-0.053299549,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671Q,NP_000240:p.Glu671Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12392,0.05714,0.4803606880722116,Neutral,Neutral,False,0.101,,0.02423,,,0.49457,,Uncertain,Uncertain,Neutral,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1331997,Uncertain significance,1,92.48,H,0.0025,2.3205,-6.1429,gain_of_function,-0.325344497176121,0.9331447083222486,,,0.1273,benign,0.01875332,neutral,0.015809095,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671R,NP_000240:p.Glu671Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18578,-0.35986,0.3758422631214436,Neutral,Neutral,False,0.101,,0.05837,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.1156,2.3205,-7.7279,loss_of_function,-2.1667855404518,0.7058170254847171,,,0.2399,benign,-0.14610114,destabilizing,-0.05596225,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671S,NP_000240:p.Glu671Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05469,0.28469,0.8061623306954147,Neutral,Neutral,False,0.101,,0.02466,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,-0.0373,2.3205,-5.9206,loss_of_function,-1.16621514628462,0.8293384111149864,,,0.1656,benign,-0.045283853,neutral,-0.054618332,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671T,NP_000240:p.Glu671Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92638,0.2517,0.7105476764231755,Neutral,Neutral,False,0.101,,0.02381,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,92.48,H,-0.0624,2.3205,-7.7279,loss_of_function,-1.65589634906448,0.7688867916816426,,,0.1746,benign,-0.091590454,destabilizing,-0.022245457,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671V,NP_000240:p.Glu671Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39861,0.68469,0.4737201824703824,Neutral,Neutral,False,0.101,,0.05622,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,92.48,H,-0.0514,2.3205,-8.7278,loss_of_function,-1.00220761105314,0.8495853004130249,,,0.1197,benign,-0.15855119,destabilizing,-0.132748622,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671W,NP_000240:p.Glu671Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53109,0.49864,-0.0940896903308186,Neutral,Neutral,False,0.101,,0.01662,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.1631,2.3205,-22.0156,loss_of_function,-2.90322815791821,0.6149024700702039,,,0.8206,pathogenic,0.096903323,neutral,-0.266886577,neutral,https://doi.org/10.1101/2022.10.22.513328 +E671Y,NP_000240:p.Glu671Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12826,-0.04116,0.4201290953034398,Neutral,Neutral,False,0.101,,0.01447,,,,,Uncertain,Uncertain,Uncertain,59.8,,True,59.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,92.48,H,-0.1538,2.3205,-22.0156,loss_of_function,-2.90322815791821,0.6149024700702039,,,0.4821,ambiguous,0.052958165,neutral,-0.104882751,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672A,NP_000240:p.Cys672Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19416,0.14966,0.4896335369904608,Neutral,Neutral,False,0.166,,0.08498,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.71,H,-0.4836,0.0848,-22.0156,loss_of_function,-2.78262293800772,0.6297913014452187,,,0.9294,pathogenic,-0.170542933,destabilizing,-0.358260633,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672D,NP_000240:p.Cys672Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09552,3.13401,2.083695226355825,Uncertain,Uncertain,False,0.166,,0.14614,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.71,H,-0.523,0.0848,-8.7278,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9967,pathogenic,-0.154040176,destabilizing,-1.002988974,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672E,NP_000240:p.Cys672Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74898,3.0932,1.1933011989865878,Uncertain,Neutral,False,0.166,,-0.02672,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5784,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.999,pathogenic,-0.11257905,destabilizing,-0.886360843,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672F,NP_000240:p.Cys672Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.59991,0.87449,-0.2991653831259516,Uncertain,Uncertain,False,0.166,,0.73848,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.4017,0.0848,-7.1429,loss_of_function,-4.04808601984439,0.4735686565982044,,,0.9456,pathogenic,-0.061960283,neutral,-0.408255062,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672G,NP_000240:p.Cys672Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29191,1.67483,2.365450181212005,Neutral,Uncertain,False,0.166,,0.22484,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.71,H,-0.476,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.8045,pathogenic,-0.169278832,destabilizing,-0.903183242,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672H,NP_000240:p.Cys672His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.02543,3.17075,0.5305015009700289,Uncertain,Uncertain,False,0.166,,0.48497,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5893,0.0848,-22.0156,loss_of_function,-4.71361409286123,0.3914085704772197,,,0.9941,pathogenic,-0.120531598,destabilizing,-0.931580724,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672I,NP_000240:p.Cys672Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5302,0.17143,-1.0230242292260645,Neutral,Neutral,False,0.166,,0.34162,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5074,0.0848,-22.0156,loss_of_function,-4.60866350427851,0.4043648224311266,,,0.9777,pathogenic,-0.207805659,destabilizing,-0.816125647,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672K,NP_000240:p.Cys672Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.41509,2.24218,1.4732823359004117,Uncertain,Neutral,False,0.166,,0.7974,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5791,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9992,pathogenic,-0.120200223,destabilizing,-0.53316043,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672L,NP_000240:p.Cys672Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.0884,-0.21293,-1.4260592024498024,Uncertain,Uncertain,False,0.166,,0.61962,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5405,0.0848,-22.0156,loss_of_function,-4.02741398239591,0.47612063967138185,,,0.9572,pathogenic,-0.22721161,destabilizing,-0.333389356,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672M,NP_000240:p.Cys672Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.18399,-0.4551,-0.6387658911886196,Uncertain,Uncertain,False,0.166,,-0.01419,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5077,0.0848,-22.0156,loss_of_function,-4.60866350427851,0.4043648224311266,,,0.9795,pathogenic,-0.151443463,destabilizing,-0.183823694,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672N,NP_000240:p.Cys672Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0038,1.4398,1.0243856611708109,Neutral,Neutral,False,0.166,,0.12485,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5332,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9843,pathogenic,-0.267662307,destabilizing,-0.462487265,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672P,NP_000240:p.Cys672Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.78795,12.93503,6.70577238138312,Destabilizing,Destabilizing,False,0.166,,0.24823,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.71,H,-0.6019,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9989,pathogenic,-0.370594558,destabilizing,-0.888379927,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672Q,NP_000240:p.Cys672Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00602,2.33265,0.3694529596567164,Uncertain,Neutral,False,0.166,,0.17203,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5572,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9978,pathogenic,-0.220968143,destabilizing,-0.61819672,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672R,NP_000240:p.Cys672Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.07129,1.66769,0.5786201273564364,Neutral,Neutral,False,0.166,,3.69953,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5358,0.0848,-22.0156,loss_of_function,-4.89302830907737,0.3692597114684216,,,0.9918,pathogenic,-0.20176092,destabilizing,-0.497723302,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672S,NP_000240:p.Cys672Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62411,1.65612,1.5368423102436592,Neutral,Neutral,False,0.166,,0.17177,,,0.07362,,,,Neutral,10.3,,True,10.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"1784462, 1047528","Uncertain significance, Uncertain significance","1, 2",93.71,H,-0.4743,0.0848,-22.0156,loss_of_function,-3.10373395742091,0.5901498346475929,,,0.9281,pathogenic,-0.152830889,destabilizing,-0.748493588,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672T,NP_000240:p.Cys672Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53301,-0.02075,0.3096766473685497,Neutral,Neutral,False,0.166,,-0.11143,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.509,0.0848,-22.0156,loss_of_function,-3.10373395742091,0.5901498346475929,,,0.9613,pathogenic,-0.273416369,destabilizing,-0.356263344,neutral,https://doi.org/10.1101/2022.10.22.513328 +C672V,NP_000240:p.Cys672Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67985,0.04048,-0.7522005412036459,Neutral,Neutral,False,0.166,,0.10052,,,,,,,,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.71,H,-0.5055,0.0848,-22.0156,loss_of_function,-4.60866350427851,0.4043648224311266,,,0.9372,pathogenic,-0.247526063,destabilizing,-0.686633286,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672W,NP_000240:p.Cys672Trp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.55958,3.55442,-0.0849474231150598,Destabilizing,Uncertain,False,0.166,,0.31442,,,0.8315,,,,Neutral,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,455413,Uncertain significance,2,93.71,H,-0.4807,0.0848,-22.0156,loss_of_function,-4.71361409286123,0.3914085704772197,,,0.9909,pathogenic,-0.111307212,destabilizing,-0.872505431,damaging,https://doi.org/10.1101/2022.10.22.513328 +C672Y,NP_000240:p.Cys672Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.86311,1.4,0.469751135955368,Uncertain,Uncertain,False,0.166,,0.63093,,,0.185,,,,Neutral,10.3,,True,10.3,,neutral,neutral,neutral,UP,-,neutral,neutral,3230767,Uncertain significance,1,93.71,H,-0.4869,0.0848,-22.0156,loss_of_function,-4.71361409286123,0.3914085704772197,,,0.9744,pathogenic,-0.183653658,destabilizing,-0.901756865,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673A,NP_000240:p.Phe673Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.94038,2.23776,3.56380619143568,Uncertain,Destabilizing,False,0.143,,0.60657,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.41,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9723,pathogenic,0.059102327,neutral,-0.885558935,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673C,NP_000240:p.Phe673Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.87522,1.98163,3.707248318317959,Uncertain,Destabilizing,False,0.143,,0.50289,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.3781,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9476,pathogenic,0.042216655,neutral,-0.774605551,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673D,NP_000240:p.Phe673Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.3353,3.42449,4.548778800644797,Destabilizing,Destabilizing,False,0.143,,0.60721,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.533,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9979,pathogenic,-0.74263797,destabilizing,-1.04541195,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673E,NP_000240:p.Phe673Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.06917,3.74524,4.09178617442943,Destabilizing,Destabilizing,False,0.143,,0.53226,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.5023,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9957,pathogenic,-0.247027769,destabilizing,-1.049659762,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673G,NP_000240:p.Phe673Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.41815,4.59184,5.149964644010457,Destabilizing,Destabilizing,False,0.143,,0.57871,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4454,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9914,pathogenic,-0.334020887,destabilizing,-0.848449534,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673H,NP_000240:p.Phe673His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.50822,2.50272,2.3751368735571323,Uncertain,Uncertain,False,0.143,,0.42159,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4376,0.4147,-22.0156,loss_of_function,-3.03274761439846,0.598913167544582,,,0.9859,pathogenic,-0.120238867,destabilizing,-0.863196797,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673I,NP_000240:p.Phe673Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78431,-0.45578,1.5770984047607244,Neutral,Neutral,False,0.143,,0.40291,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.3539,0.4147,-22.0156,loss_of_function,-2.82107277133694,0.6250446322275757,,,0.781,pathogenic,-0.061985529,neutral,-0.026398277,neutral,https://doi.org/10.1101/2022.10.22.513328 +F673K,NP_000240:p.Phe673Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76662,4.50952,4.185341788103082,Destabilizing,Destabilizing,False,0.143,,1.38206,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.5092,0.4147,-22.0156,loss_of_function,-3.97100182429319,0.4830847753042791,,,0.9944,pathogenic,-0.048149871,neutral,-1.032693716,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673L,NP_000240:p.Phe673Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44099,0.32551,1.5058691907625266,Neutral,Neutral,False,0.143,,0.41474,,,0.31181,,,,Neutral,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,135848,Uncertain significance,2,94.51,H,-0.2266,0.4147,-4.48,loss_of_function,-2.54721219354666,0.6588529861778422,,,0.957,pathogenic,-0.037081329,neutral,-0.128873933,neutral,https://doi.org/10.1101/2022.10.22.513328 +F673M,NP_000240:p.Phe673Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19073,0.91395,1.9598243153199333,Neutral,Neutral,False,0.143,,0.09007,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.2741,0.4147,-7.7279,loss_of_function,-3.68447100065401,0.5184572833936802,,,0.8659,pathogenic,-0.069746569,neutral,-0.252894658,neutral,https://doi.org/10.1101/2022.10.22.513328 +F673N,NP_000240:p.Phe673Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.81243,1.83605,3.463359839258501,Uncertain,Destabilizing,False,0.143,,0.56765,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4626,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9915,pathogenic,-0.013923004,neutral,-1.03680165,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673P,NP_000240:p.Phe673Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.63954,12.5085,7.446466966842899,Destabilizing,Destabilizing,False,0.143,,0.88093,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4655,0.4147,-8.7278,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9995,pathogenic,-0.185608647,destabilizing,-0.967143558,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673Q,NP_000240:p.Phe673Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.04509,2.11327,3.38530682383803,Uncertain,Destabilizing,False,0.143,,0.64456,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4647,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9919,pathogenic,0.001258635,neutral,-0.939102639,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673R,NP_000240:p.Phe673Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43234,3.17857,3.332935500182926,Destabilizing,Destabilizing,False,0.143,,1.48824,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.5106,0.4147,-22.0156,loss_of_function,-4.41196642534086,0.42864726760583904,,,0.9819,pathogenic,0.100088963,neutral,-1.006167306,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673S,NP_000240:p.Phe673Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.22791,3.26259,4.34927721217451,Destabilizing,Destabilizing,False,0.143,,0.6316,,,0.08355,,,,Neutral,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,3230768,Uncertain significance,1,94.51,H,-0.389,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9767,pathogenic,-0.141230047,destabilizing,-1.040567858,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673T,NP_000240:p.Phe673Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.19597,1.51293,3.4003751366214927,Uncertain,Destabilizing,False,0.143,,0.50835,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.4353,0.4147,-22.0156,loss_of_function,-4.7625879951553,0.38536269473839163,,,0.9707,pathogenic,-0.023622461,neutral,-0.872043813,damaging,https://doi.org/10.1101/2022.10.22.513328 +F673V,NP_000240:p.Phe673Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88326,-0.16395,2.043622418594768,Uncertain,Uncertain,False,0.143,,0.49225,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,94.51,H,-0.2805,0.4147,-8.7278,loss_of_function,-2.88667771777425,0.6169456379585307,,,0.8082,pathogenic,-0.113651466,destabilizing,-0.211377853,neutral,https://doi.org/10.1101/2022.10.22.513328 +F673W,NP_000240:p.Phe673Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.76196,0.96054,0.7938757590696035,Uncertain,Uncertain,False,0.143,,0.26802,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.51,H,-0.3335,0.4147,-22.0156,loss_of_function,-3.03274761439846,0.598913167544582,,,0.9129,pathogenic,-0.026268838,neutral,-0.243469405,neutral,https://doi.org/10.1101/2022.10.22.513328 +F673Y,NP_000240:p.Phe673Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0113,0.16803,0.9910640177893016,Neutral,Neutral,False,0.143,,0.00371,,,,,,,,6.8,,True,6.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.51,H,-0.2259,0.4147,-7.1429,loss_of_function,-2.46479200833081,0.6690278379834854,,,0.7915,pathogenic,-0.173378169,destabilizing,-0.28031483,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674A,NP_000240:p.Glu674Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23962,0.1034,0.3663649508316557,Neutral,Neutral,False,0.103,,-0.00095,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,0.0047,2.6204,-5.7279,gain_of_function,-1.57178535340206,0.779270375676861,,,0.102,benign,-0.066030893,neutral,-0.024297612,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674C,NP_000240:p.Glu674Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57596,1.06837,0.9997272049489198,Neutral,Neutral,False,0.103,,-0.00095,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.1478,2.6204,-22.0156,loss_of_function,-2.60802222873662,0.6513459283529488,,,0.5609,ambiguous,-0.039761925,neutral,0.056381301,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674D,NP_000240:p.Glu674Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07838,-0.47245,0.6858990030034114,Neutral,Neutral,False,0.103,,0.00112,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,0.0557,2.6204,-2.4611,gain_of_function,-0.228608917493736,0.9450868094595316,,,0.1531,benign,-0.063391726,neutral,0.090267504,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674F,NP_000240:p.Glu674Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16028,-0.71122,-0.1640276655460448,Neutral,Neutral,False,0.103,,-0.00094,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.1254,2.6204,-22.0156,loss_of_function,-2.51587048523957,0.6627221504672111,,,0.4908,ambiguous,0.079255799,neutral,-0.128366997,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674G,NP_000240:p.Glu674Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24177,1.63027,1.63697117271658,Neutral,Neutral,False,0.103,,-0.00093,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.0194,2.6204,-5.406,loss_of_function,-1.002432574903,0.8495575284075634,,,0.1247,benign,-0.087188892,destabilizing,-0.089703845,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674H,NP_000240:p.Glu674His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52222,0.02551,0.0196112558750199,Neutral,Neutral,False,0.103,,-0.00093,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0265,2.6204,-4.3356,loss_of_function,-0.896703883407725,0.8626098379207205,,,0.193,benign,0.041599476,neutral,0.008370471,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674I,NP_000240:p.Glu674Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65503,0.09626,-0.2172694315092321,Neutral,Neutral,False,0.103,,-0.00112,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0629,2.6204,-8.7278,loss_of_function,-2.61352566740965,0.6506665235108839,,,0.2531,benign,0.114372218,stabilizing,-0.15318325,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674K,NP_000240:p.Glu674Lys,"hg38,3:g.37048934G>A",,3.9800361387e-06,0.553,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.87018,0.17211,0.503622052921347,Neutral,Neutral,False,0.103,,0.00263,,,-0.087,,Uncertain,Uncertain,Neutral,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,405432,Conflicting classifications of pathogenicity,1,94.37,H,-0.0183,2.6204,-5.9206,loss_of_function,-0.238819859258237,0.9438262587949369,,,0.0799,benign,-0.013952282,neutral,-0.051406171,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674L,NP_000240:p.Glu674Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.72962,-0.11939,-0.5871390453423747,Neutral,Neutral,False,0.103,,-0.00101,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0651,2.6204,-8.7278,loss_of_function,-2.82432455637075,0.6246431962111899,,,0.2368,benign,0.019382661,neutral,-0.057165001,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674M,NP_000240:p.Glu674Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.48941,0.47381,-0.1189508614816303,Neutral,Neutral,False,0.103,,-0.00277,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0088,2.6204,-7.7279,loss_of_function,-2.51684407105693,0.6626019603537604,,,0.31,benign,-0.030582174,neutral,-0.016182406,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674N,NP_000240:p.Glu674Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70368,0.53571,0.4607133325458712,Neutral,Neutral,False,0.103,,-0.00095,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.025,2.6204,-6.406,loss_of_function,-0.879275374132061,0.8647614042950104,,,0.2122,benign,-0.004945256,neutral,-0.064667618,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674P,NP_000240:p.Glu674Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.20265,9.51803,6.112323633523056,Destabilizing,Destabilizing,False,0.103,,-0.02764,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.2354,2.6204,-22.0156,loss_of_function,-3.15497360889822,0.583824249974505,,,0.8931,pathogenic,-0.130516536,destabilizing,-0.97334825,damaging,https://doi.org/10.1101/2022.10.22.513328 +E674Q,NP_000240:p.Glu674Gln,"hg19,3:g.37090425G>C",,3.9800361387e-06,0.429,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31053,0.65374,0.354111706375505,Neutral,Neutral,False,0.103,,-0.00101,,,0.12386,,Uncertain,Uncertain,Neutral,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,0.0419,2.6204,-3.821,gain_of_function,-0.198026955104561,0.9488621823784433,,,0.0747,benign,-0.042695367,neutral,-0.058893411,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674R,NP_000240:p.Glu674Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48099,0.12211,0.1325631439576097,Neutral,Neutral,False,0.103,,-3e-05,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0622,2.6204,-2.6835,loss_of_function,-0.512817241084273,0.9100010162537681,,,0.1052,benign,-0.06206648,neutral,-0.044360633,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674S,NP_000240:p.Glu674Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10999,0.8551,1.020411053814594,Neutral,Neutral,False,0.103,,-0.00093,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.0041,2.6204,-4.821,loss_of_function,-1.72165444707885,0.7607688907018653,,,0.1301,benign,-0.025620768,neutral,0.046056395,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674T,NP_000240:p.Glu674Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.86681,0.82619,0.5957194513790753,Neutral,Neutral,False,0.103,,-0.00094,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.37,H,-0.0348,2.6204,-7.7279,loss_of_function,-2.60802222873662,0.6513459283529488,,,0.1697,benign,0.045309289,neutral,-0.04280499,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674V,NP_000240:p.Glu674Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08491,0.0415,-0.0406054832964192,Neutral,Neutral,False,0.103,,-0.00013,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.37,H,-0.0916,2.6204,-22.0156,loss_of_function,-2.80715812519353,0.6267624087900329,,,0.164,benign,0.032548908,neutral,-0.028757715,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674W,NP_000240:p.Glu674Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59009,0.12347,-0.6083084363556102,Neutral,Neutral,False,0.103,,-0.00131,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.1355,2.6204,-22.0156,loss_of_function,-2.51587048523957,0.6627221504672111,,,0.6665,pathogenic,0.065394025,neutral,-0.115039976,neutral,https://doi.org/10.1101/2022.10.22.513328 +E674Y,NP_000240:p.Glu674Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.93712,-0.47177,0.0181091667530014,Neutral,Neutral,False,0.103,,-0.00095,,,,,Uncertain,Uncertain,Uncertain,32.9,,True,32.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,94.37,H,-0.0503,2.6204,-7.1429,loss_of_function,-2.51587048523957,0.6627221504672111,,,0.3266,benign,0.069719495,neutral,0.017904613,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675A,NP_000240:p.Ser675Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4757,-0.77211,-0.7423221109553552,Neutral,Neutral,False,0.102,,0.00471,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,-,-,uncertain,neutral,,,,94.82,H,-0.0044,2.1223,-6.406,loss_of_function,-1.064552953427,0.8418887074271585,,,0.1658,benign,-0.08485955,destabilizing,-0.04828162,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675C,NP_000240:p.Ser675Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34393,-0.09048,0.0274738178514383,Neutral,Neutral,False,0.102,,0.00185,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0667,2.1223,-8.7278,loss_of_function,-2.22168068162165,0.6990401670635632,,,0.1919,benign,-0.043947692,neutral,-0.036575814,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675D,NP_000240:p.Ser675Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98122,-0.34932,0.4482869442970855,Neutral,Neutral,False,0.102,,0.00417,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0867,2.1223,-3.2044,loss_of_function,-0.588741131503771,0.9006281383416016,,,0.4004,ambiguous,-0.077323431,neutral,0.027534633,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675E,NP_000240:p.Ser675Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35604,-0.21565,-0.1421954198573422,Neutral,Neutral,False,0.102,,0.00181,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0779,2.1223,-6.7279,loss_of_function,-0.642810559033164,0.893953215070236,,,0.6923,pathogenic,-0.128749995,destabilizing,0.043001696,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675F,NP_000240:p.Ser675Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.89092,-0.51088,-1.5989778800073045,Neutral,Neutral,False,0.102,,0.00189,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1621,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.5343,ambiguous,-0.005079222,neutral,-0.559877085,damaging,https://doi.org/10.1101/2022.10.22.513328 +S675G,NP_000240:p.Ser675Gly,"hg19,3:g.37090428A>G",,,0.315,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.52477,0.48912,0.7126540689277244,Neutral,Neutral,False,0.102,,-0.00167,,,-0.00711,,Uncertain,Uncertain,Neutral,27.7,,True,27.7,,uncertain,,,DOWN,-,neutral,neutral,,,,94.82,H,-0.0001,2.1223,-3.7737,loss_of_function,-0.902444490368807,0.8619011544234622,,,0.0798,benign,-0.151615575,destabilizing,0.105006626,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675H,NP_000240:p.Ser675His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.09424,-0.41429,-0.9206383353833376,Neutral,Neutral,False,0.102,,0.00415,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1633,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.5021,ambiguous,-0.010446347,neutral,0.049723944,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675I,NP_000240:p.Ser675Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70369,-1.42857,-1.2295824407039315,Neutral,Neutral,False,0.102,,0.00484,,,0.15429,,Uncertain,Uncertain,Neutral,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,237328,Uncertain significance,2,94.82,H,-0.0974,2.1223,-8.7278,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.4969,ambiguous,0.148764421,stabilizing,-0.321349917,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675K,NP_000240:p.Ser675Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.28887,-0.54898,-0.5160977252082499,Neutral,Neutral,False,0.102,,0.00185,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0968,2.1223,-7.1429,loss_of_function,-2.30830470201181,0.6883463477282796,,,0.815,pathogenic,-0.069623751,neutral,-0.044552083,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675L,NP_000240:p.Ser675Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.10275,-1.30918,-1.6853315002441076,Neutral,Neutral,False,0.102,,0.00193,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1615,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.2793,benign,0.002585189,neutral,-0.08121178,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675M,NP_000240:p.Ser675Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.00365,-0.65884,-1.0086427681610626,Neutral,Neutral,False,0.102,,0.00184,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1326,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.3279,benign,-0.180709854,destabilizing,-0.04184789,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675N,NP_000240:p.Ser675Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.87446,0.07381,-0.2911491811674332,Neutral,Neutral,False,0.102,,0.00689,,,-0.0288,,Uncertain,Uncertain,Neutral,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,234563,Uncertain significance,2,94.82,H,-0.0197,2.1223,-5.0275,loss_of_function,-1.25151103893557,0.8188085504372822,,,0.1468,benign,-0.051023601,neutral,-0.012508781,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675P,NP_000240:p.Ser675Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.2767,7.76973,6.943667794886892,Destabilizing,Destabilizing,False,0.102,,0.02387,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.2375,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.9392,pathogenic,-0.730379158,destabilizing,-1.079681222,damaging,https://doi.org/10.1101/2022.10.22.513328 +S675Q,NP_000240:p.Ser675Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.20119,-0.8466,-0.508678215330931,Neutral,Neutral,False,0.102,,0.00183,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0582,2.1223,-8.7278,loss_of_function,-1.92553081364833,0.7356001555056895,,,0.6803,pathogenic,-0.181995644,destabilizing,-0.07041356,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675R,NP_000240:p.Ser675Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.25009,-1.14558,-1.190117138796584,Neutral,Neutral,False,0.102,,0.00075,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1779,2.1223,-22.0156,loss_of_function,-3.10189269200577,0.5903771406489668,,,0.797,pathogenic,-0.158562272,destabilizing,-0.126651518,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675T,NP_000240:p.Ser675Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.66838,-0.68469,-0.2430323494845981,Neutral,Neutral,False,0.102,,0.0,,,0.06757,,Uncertain,Uncertain,Neutral,27.7,,True,27.7,,neutral,,,UP,-,mixed_effects,neutral,439173,Uncertain significance,2,94.82,H,0.0297,2.1223,-1.558,gain_of_function,-0.0834283579741903,0.9630094903453261,,,0.0857,benign,0.051993762,neutral,0.016892185,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675V,NP_000240:p.Ser675Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88126,-1.06837,-0.9242454966643054,Neutral,Neutral,False,0.102,,0.00736,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.0666,2.1223,-7.7279,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.4635,ambiguous,0.103108868,neutral,-0.445654167,neutral,https://doi.org/10.1101/2022.10.22.513328 +S675W,NP_000240:p.Ser675Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34748,-0.41701,-1.9817348753759336,Neutral,Neutral,False,0.102,,0.00197,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1718,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.6966,pathogenic,-0.13303739,destabilizing,-0.715769362,damaging,https://doi.org/10.1101/2022.10.22.513328 +S675Y,NP_000240:p.Ser675Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59345,-0.63231,-1.3850495720010207,Neutral,Neutral,False,0.102,,0.00413,,,,,Uncertain,Uncertain,Uncertain,27.7,,True,27.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,94.82,H,-0.1669,2.1223,-22.0156,loss_of_function,-3.43386988646435,0.5493942340026986,,,0.3897,ambiguous,-0.021679523,neutral,-0.446483302,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676A,NP_000240:p.Leu676Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.73694,3.1068,2.939298926050709,Destabilizing,Uncertain,False,0.1,,0.02679,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.2655,1.6606,-22.0122,loss_of_function,-3.39333055245062,0.5543988541064867,,,0.6697,pathogenic,-0.196825533,destabilizing,-0.404611709,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676C,NP_000240:p.Leu676Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.88078,3.08027,3.226053708502352,Uncertain,Uncertain,False,0.1,,0.01225,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.187,1.6606,-8.7244,loss_of_function,-3.39333055245062,0.5543988541064867,,,0.659,pathogenic,-0.135905238,destabilizing,-0.180430519,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676D,NP_000240:p.Leu676Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.49715,4.50578,4.49814634237715,Destabilizing,Destabilizing,False,0.1,,0.03005,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.3871,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9957,pathogenic,-1.31858856,destabilizing,-1.008426407,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676E,NP_000240:p.Leu676Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.86367,3.28163,3.732257632635088,Destabilizing,Destabilizing,False,0.1,,0.01811,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.3551,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9797,pathogenic,-1.352769099,destabilizing,-1.097026046,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676F,NP_000240:p.Leu676Phe,"hg19,3:g.37090431C>T, hg38,3:g.37048940C>T",,,0.374,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65283,2.25034,1.1828917918757968,Uncertain,Uncertain,False,0.1,,0.01097,,,0.20034,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.65,H,-0.0917,1.6606,-0.9831,loss_of_function,-0.505612704455945,0.9108904232883382,,,0.1164,benign,0.521446072,stabilizing,0.060765064,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676G,NP_000240:p.Leu676Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.54861,5.40272,5.100888849553589,Destabilizing,Destabilizing,False,0.1,,-0.00875,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.3404,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9329,pathogenic,-0.40750655,destabilizing,-0.981932622,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676H,NP_000240:p.Leu676His,"hg19,3:g.37090432T>A",,,0.833,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.26883,3.38741,2.767021156339668,Uncertain,Uncertain,False,0.1,,0.04043,,,0.03662,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2865758,Uncertain significance,1,94.65,H,-0.3079,1.6606,-22.0122,loss_of_function,-2.50153630661795,0.6644917187210149,,,0.8926,pathogenic,-1.272014737,destabilizing,-1.092389179,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676I,NP_000240:p.Leu676Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34507,0.64728,1.3088411887034048,Uncertain,Uncertain,False,0.1,,0.01389,,,-0.03631,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1784653,Uncertain significance,1,94.65,H,-0.0445,1.6606,-3.367,loss_of_function,-1.11085047666091,0.836173233279173,,,0.1026,benign,-0.187354549,destabilizing,-0.005091577,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676K,NP_000240:p.Leu676Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.33615,5.94728,4.898994062357276,Destabilizing,Destabilizing,False,0.1,,-0.01983,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.65,H,-0.3541,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9744,pathogenic,-1.320740738,destabilizing,-1.069323267,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676M,NP_000240:p.Leu676Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4828,2.04898,1.3773394609975382,Uncertain,Neutral,False,0.1,,-0.00562,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.65,H,-0.0952,1.6606,-8.7244,loss_of_function,-1.84992061931012,0.7449343073323615,,,0.1558,benign,-0.036900331,neutral,-0.135508966,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676N,NP_000240:p.Leu676Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.32788,3.58129,3.1747150685219703,Destabilizing,Destabilizing,False,0.1,,0.01303,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.3334,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9696,pathogenic,-1.310204024,destabilizing,-0.989830486,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676P,NP_000240:p.Leu676Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.85406,14.7085,10.19169244120974,Destabilizing,Destabilizing,False,0.1,,0.00095,,,0.26528,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90001,Conflicting classifications of pathogenicity,1,94.65,H,-0.349,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9818,pathogenic,-1.246135776,destabilizing,-1.128345171,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676Q,NP_000240:p.Leu676Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.62065,2.88299,2.928558375834004,Uncertain,Uncertain,False,0.1,,-0.02397,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.2863,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.8963,pathogenic,-1.16655619,destabilizing,-1.026113779,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676R,NP_000240:p.Leu676Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.77819,4.38673,3.6279760532601735,Destabilizing,Destabilizing,False,0.1,,-0.03798,,,0.06363,,,,Neutral,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1784677,Likely pathogenic,1,94.65,H,-0.3457,1.6606,-22.0122,loss_of_function,-3.60685683687616,0.5280388271913602,,,0.9321,pathogenic,-1.254841774,destabilizing,-0.987069814,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676S,NP_000240:p.Leu676Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.37058,4.31735,3.966198542380203,Destabilizing,Destabilizing,False,0.1,,0.02988,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.2281,1.6606,-8.7244,loss_of_function,-3.39333055245062,0.5543988541064867,,,0.8748,pathogenic,-0.638435555,destabilizing,-0.960355617,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676T,NP_000240:p.Leu676Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.7214,2.69014,2.9673034060491914,Uncertain,Uncertain,False,0.1,,0.01509,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.2687,1.6606,-22.0122,loss_of_function,-3.39333055245062,0.5543988541064867,,,0.7131,pathogenic,-0.092577681,destabilizing,-0.434687723,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676V,NP_000240:p.Leu676Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99252,1.01429,1.7472011909821468,Uncertain,Uncertain,False,0.1,,0.00348,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.65,H,-0.0842,1.6606,-4.0241,loss_of_function,-1.00574365416848,0.8491487724607675,,,0.0994,benign,-0.095201828,destabilizing,0.051167849,neutral,https://doi.org/10.1101/2022.10.22.513328 +L676W,NP_000240:p.Leu676Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.53617,2.90068,2.5720412071867047,Uncertain,Uncertain,False,0.1,,-0.00408,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.65,H,-0.2982,1.6606,-22.0122,loss_of_function,-2.50153630661795,0.6644917187210149,,,0.649,pathogenic,0.301367082,stabilizing,-0.603337122,damaging,https://doi.org/10.1101/2022.10.22.513328 +L676Y,NP_000240:p.Leu676Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75546,2.44864,2.5482032110217245,Uncertain,Uncertain,False,0.1,,0.01588,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.65,H,-0.2911,1.6606,-22.0122,loss_of_function,-2.50153630661795,0.6644917187210149,,,0.7434,pathogenic,0.462162707,stabilizing,-0.484391318,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677A,NP_000240:p.Ser677Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.92353,-1.59626,-1.136304745094033,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,-,-,uncertain,neutral,,,,94.95,H,0.012,2.1056,-2.8916,gain_of_function,-0.508585448343895,0.9105234351720557,,,0.0846,benign,0.006767329,neutral,0.012303908,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677C,NP_000240:p.Ser677Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27581,-0.80884,-0.4413469933549702,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,135849,Uncertain significance,2,94.95,H,-0.0435,2.1056,-3.8665,loss_of_function,-0.493323252807744,0.912407568014058,,,0.0839,benign,-0.119821129,destabilizing,-0.059417193,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677D,NP_000240:p.Ser677Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.4192,2.68095,2.2082061599002483,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1843,2.1056,-22.0122,loss_of_function,-3.41537636763548,0.5516772768393028,,,0.9787,pathogenic,-0.511204202,destabilizing,-1.014869031,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677E,NP_000240:p.Ser677Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.65586,2.97279,2.943146043582296,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1575,2.1056,-22.0122,loss_of_function,-3.41537636763548,0.5516772768393028,,,0.9798,pathogenic,-0.270910539,destabilizing,-1.004949839,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677F,NP_000240:p.Ser677Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.36951,0.36667,2.7030194998397388,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.0826,2.1056,-6.1395,loss_of_function,-2.32372542589404,0.6864426444081947,,,0.8662,pathogenic,-0.289929213,destabilizing,-0.19054565,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677G,NP_000240:p.Ser677Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9651,1.0517,0.7808633255995664,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,1784706,Uncertain significance,2,94.95,H,-0.0151,2.1056,-6.4026,loss_of_function,-0.750076684531579,0.8807111078382077,,,0.104,benign,0.044914569,neutral,0.03582024,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677H,NP_000240:p.Ser677His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.47416,1.7585,2.641912862282155,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1649,2.1056,-22.0122,loss_of_function,-3.25617454758789,0.5713308959367448,,,0.9592,pathogenic,-0.186729037,destabilizing,-0.957864152,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677I,NP_000240:p.Ser677Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73619,0.24762,-0.0396057233573554,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,1010078,Uncertain significance,1,94.95,H,-0.0939,2.1056,-7.7244,loss_of_function,-2.48129784385039,0.6669901765793013,,,0.6021,pathogenic,-0.227428177,destabilizing,-0.056065455,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677K,NP_000240:p.Ser677Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.66123,5.12993,5.026566114101747,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1742,2.1056,-22.0122,loss_of_function,-3.68753367661053,0.5180791930763061,,,0.9957,pathogenic,0.087773279,neutral,-1.001335067,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677L,NP_000240:p.Ser677Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52403,3.1619,0.3460121297780411,Uncertain,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.0594,2.1056,-1.7133,loss_of_function,-1.8761483913839,0.741696463431089,,,0.3639,ambiguous,-0.17673866,destabilizing,-0.468628362,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677M,NP_000240:p.Ser677Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59063,0.06463,0.7074184333540847,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.0582,2.1056,-7.1395,loss_of_function,-1.97924460627722,0.7289691357077273,,,0.5534,ambiguous,-0.212272184,destabilizing,-0.136346736,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677N,NP_000240:p.Ser677Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25503,1.33912,0.3454646807053219,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,90004,Uncertain significance,2,94.95,H,-0.0401,2.1056,-8.7244,loss_of_function,-1.79177626286012,0.7521122845313195,,,0.729,pathogenic,-0.048076842,neutral,-1.003620547,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677P,NP_000240:p.Ser677Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.40541,6.71224,5.177942711493742,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.239,2.1056,-22.0122,loss_of_function,-3.68753367661053,0.5180791930763061,,,0.9368,pathogenic,-0.288559885,destabilizing,-0.999104948,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677Q,NP_000240:p.Ser677Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92435,1.2517,1.716539187644628,Uncertain,Uncertain,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1275,2.1056,-22.0122,loss_of_function,-3.41537636763548,0.5516772768393028,,,0.9606,pathogenic,0.08705673,neutral,-0.975661503,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677R,NP_000240:p.Ser677Arg,"hg19,3:g.37090434A>C",,,0.813,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.39739,4.3517,3.713276960916276,Destabilizing,Destabilizing,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,1379513,Uncertain significance,1,94.95,H,-0.1794,2.1056,-22.0122,loss_of_function,-3.68753367661053,0.5180791930763061,,,0.9878,pathogenic,0.206781873,stabilizing,-1.018652021,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677T,NP_000240:p.Ser677Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16808,0.05578,-0.2575321767959282,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,neutral,,,UP,-,neutral,neutral,1483946,Uncertain significance,1,94.95,H,-0.0004,2.1056,-7.1395,loss_of_function,-2.11051048983803,0.7127642350651208,,,0.2217,benign,-0.07655278,neutral,-0.110377522,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677V,NP_000240:p.Ser677Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46803,0.13061,-0.9744775965244268,Neutral,Neutral,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.063,2.1056,-6.7245,loss_of_function,-1.7949641805453,0.7517187330010682,,,0.5034,ambiguous,-0.119021315,destabilizing,-0.129464754,neutral,https://doi.org/10.1101/2022.10.22.513328 +S677W,NP_000240:p.Ser677Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.49615,2.53061,4.180436975662166,Uncertain,Destabilizing,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1733,2.1056,-22.0122,loss_of_function,-3.25617454758789,0.5713308959367448,,,0.9506,pathogenic,-0.102057562,destabilizing,-1.060056665,damaging,https://doi.org/10.1101/2022.10.22.513328 +S677Y,NP_000240:p.Ser677Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.76711,0.94898,3.9394959797795046,Uncertain,Destabilizing,False,0.081,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,94.95,H,-0.1006,2.1056,-8.7244,loss_of_function,-3.25617454758789,0.5713308959367448,,,0.8952,pathogenic,-0.001885086,neutral,-1.008336351,damaging,https://doi.org/10.1101/2022.10.22.513328 +K678A,NP_000240:p.Lys678Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10643,1.05442,0.519722978930808,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0712,1.815,-5.7245,loss_of_function,-2.01601684873255,0.7244295667105902,,,0.4242,ambiguous,0.122488715,stabilizing,-0.250889612,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678C,NP_000240:p.Lys678Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5847,1.25918,1.0977448457188417,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.2245,1.815,-22.0122,loss_of_function,-2.36067614420213,0.6818810423939276,,,0.6283,pathogenic,0.028344023,neutral,-0.256950039,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678D,NP_000240:p.Lys678Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65023,2.43605,1.4898870596037317,Uncertain,Uncertain,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.1955,1.815,-8.7244,loss_of_function,-1.76308497977127,0.7556542512568041,,,0.7467,pathogenic,0.045100956,neutral,-0.928152109,damaging,https://doi.org/10.1101/2022.10.22.513328 +K678E,NP_000240:p.Lys678Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69449,1.63537,0.7501141109027556,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,489895,Uncertain significance,2,95.26,H,-0.1012,1.815,-6.7245,loss_of_function,-1.73750324765759,0.7588123408983971,,,0.1812,benign,-0.004358321,neutral,-0.405937617,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678F,NP_000240:p.Lys678Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18661,-0.35204,-0.7655242505748117,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,95.26,H,-0.1576,1.815,-8.7244,loss_of_function,-1.29303863207269,0.8136819287861822,,,0.7308,pathogenic,0.147178273,stabilizing,-0.252863859,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678G,NP_000240:p.Lys678Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12639,2.11599,1.8493949265799337,Uncertain,Uncertain,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.2135,1.815,-22.0122,loss_of_function,-3.4522112086588,0.5471299799882318,,,0.5025,ambiguous,0.092165594,neutral,-0.44790418,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678H,NP_000240:p.Lys678His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93436,0.80544,-0.1674322018955837,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0834,1.815,-6.1395,loss_of_function,-1.96509780741157,0.7307155717489139,,,0.3001,benign,0.07969266,neutral,0.014746961,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678I,NP_000240:p.Lys678Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39898,0.24184,-0.398828127367094,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,95.26,H,-0.1168,1.815,-7.1395,loss_of_function,-1.08084149818735,0.8398778707779552,,,0.401,ambiguous,0.035172104,neutral,-0.364724895,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678L,NP_000240:p.Lys678Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2992,-0.08844,-0.8507018994113558,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,95.26,H,-0.1914,1.815,-22.0122,loss_of_function,-2.83303285144088,0.6235681487384582,,,0.3797,ambiguous,0.069153346,neutral,-0.21621887,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678M,NP_000240:p.Lys678Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36219,0.05374,-0.1812856183949107,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0966,1.815,-8.7244,loss_of_function,-2.83303285144088,0.6235681487384582,,,0.2599,benign,0.079099177,neutral,-0.112784564,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678N,NP_000240:p.Lys678Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.60932,1.3551,0.4121066363047804,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.1048,1.815,-8.7244,loss_of_function,-2.0276575701797,0.7229925083574047,,,0.5653,pathogenic,0.008459955,neutral,-0.344474165,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678P,NP_000240:p.Lys678Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.53085,11.67653,5.486506026649934,Destabilizing,Destabilizing,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.3286,1.815,-22.0122,loss_of_function,-3.4522112086588,0.5471299799882318,,,0.97,pathogenic,-1.485350641,destabilizing,-0.976315855,damaging,https://doi.org/10.1101/2022.10.22.513328 +K678Q,NP_000240:p.Lys678Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.43611,0.88095,0.3432836706757147,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0658,1.815,-4.8176,loss_of_function,-1.22530815805746,0.8220433214963069,,,0.1363,benign,0.045245287,neutral,0.083790113,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678R,NP_000240:p.Lys678Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07874,-0.16293,-0.2969666682992561,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,-,-,uncertain,neutral,573885,Uncertain significance,2,95.26,H,0.0186,1.815,-1.1246,gain_of_function,-0.0867258830627869,0.962602407674813,,,0.0673,benign,0.053876782,neutral,0.074128868,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678S,NP_000240:p.Lys678Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35457,0.93844,1.1280895410038854,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0886,1.815,-7.1395,loss_of_function,-2.04389017915399,0.7209885770352437,,,0.5128,ambiguous,0.000802744,neutral,-0.293309095,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678T,NP_000240:p.Lys678Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68246,1.00578,0.6102038716181651,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.0932,1.815,-5.7245,loss_of_function,-1.98237673631178,0.7285824712170543,,,0.2578,benign,0.100306297,neutral,-0.171759262,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678V,NP_000240:p.Lys678Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80167,-0.07109,-0.2053451881065338,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,95.26,H,-0.1007,1.815,-7.1395,loss_of_function,-1.0993090621838,0.8375980320905875,,,0.3564,ambiguous,0.092170998,neutral,-0.270950757,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678W,NP_000240:p.Lys678Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4108,-1.46429,-0.9950781493462002,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,95.26,H,-0.2344,1.815,-22.0122,loss_of_function,-2.92072964981685,0.6127418939203207,,,0.6383,pathogenic,0.045571374,neutral,-0.105718561,neutral,https://doi.org/10.1101/2022.10.22.513328 +K678Y,NP_000240:p.Lys678Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.53933,-0.10136,-0.6212823178706922,Neutral,Neutral,False,0.054,,,,,,,Uncertain,Uncertain,Uncertain,51.3,,True,51.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,95.26,H,-0.2103,1.815,-22.0122,loss_of_function,-2.92072964981685,0.6127418939203207,,,0.6039,pathogenic,0.137903492,stabilizing,-0.169902529,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679A,NP_000240:p.Glu679Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14201,-0.13605,1.1238032899652917,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1311974,Uncertain significance,2,94.47,H,-0.1542,0.875,-5.4026,loss_of_function,-2.38182287056167,0.6792704585142709,,,0.5459,ambiguous,0.066197492,neutral,-0.180705821,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679C,NP_000240:p.Glu679Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.02627,0.20986,1.7261229305459382,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.3083,0.875,-22.0122,loss_of_function,-2.75615013586925,0.6330593945456361,,,0.9631,pathogenic,0.132919195,stabilizing,-0.162400106,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679D,NP_000240:p.Glu679Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0395,1.23776,2.4205188040557304,Neutral,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.2047,0.875,-22.0122,loss_of_function,-2.70131813447606,0.6398284583001209,,,0.9452,pathogenic,-0.383463776,destabilizing,-0.990931454,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679F,NP_000240:p.Glu679Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.64168,-0.33129,0.7960729468204294,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.286,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9927,pathogenic,-0.276155978,destabilizing,-0.454810129,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679G,NP_000240:p.Glu679Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72797,1.64388,2.9925675933429634,Neutral,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1784815,Uncertain significance,1,94.47,H,-0.2647,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.8187,pathogenic,-0.192353997,destabilizing,-0.934005875,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679H,NP_000240:p.Glu679His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.15602,0.3398,1.1113524988482908,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2773,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9737,pathogenic,-0.2555708,destabilizing,-0.294372705,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679I,NP_000240:p.Glu679Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.79006,-1.69762,-0.0844331613157539,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2154,0.875,-7.1395,loss_of_function,-2.35110555579571,0.6830625408153774,,,0.8474,pathogenic,-0.048410462,neutral,-0.17241403,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679K,NP_000240:p.Glu679Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.99981,0.62585,2.734549256017312,Neutral,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.261,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9393,pathogenic,-0.165611158,destabilizing,-0.549860287,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679L,NP_000240:p.Glu679Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.27584,-0.31599,0.0836442864442282,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2256,0.875,-8.7244,loss_of_function,-1.97443879442438,0.7295624178421994,,,0.942,pathogenic,-0.160354667,destabilizing,-0.249775361,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679M,NP_000240:p.Glu679Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.23913,0.0534,0.8470783767094644,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.1745,0.875,-8.7244,loss_of_function,-3.33298324811819,0.5618487873582074,,,0.9323,pathogenic,-0.020439765,neutral,-0.501766281,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679N,NP_000240:p.Glu679Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85252,0.56837,1.775982017888948,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.2652,0.875,-22.0122,loss_of_function,-2.19543074346341,0.7022807473894618,,,0.8966,pathogenic,-0.08376131,destabilizing,-0.291005637,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679P,NP_000240:p.Glu679Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40962,9.27993,7.915328977723572,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.396,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9965,pathogenic,-1.086319583,destabilizing,-1.144543124,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679Q,NP_000240:p.Glu679Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.9402,-0.33946,1.426692465423656,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.1184,0.875,-3.7703,loss_of_function,-1.30884792764881,0.811730255913604,,,0.5673,pathogenic,0.114480019,stabilizing,-0.170328362,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679R,NP_000240:p.Glu679Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.26486,0.38299,1.873499390202701,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2537,0.875,-8.7244,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9576,pathogenic,-0.111191576,destabilizing,-0.845729494,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679S,NP_000240:p.Glu679Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.70312,0.77211,2.2316865349825967,Neutral,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.2524,0.875,-22.0122,loss_of_function,-2.7940001601817,0.6283867723328785,,,0.7649,pathogenic,0.034052779,neutral,-0.601526466,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679T,NP_000240:p.Glu679Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.73886,-0.78129,1.3432903218682546,Neutral,Neutral,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.47,H,-0.1903,0.875,-6.7245,loss_of_function,-2.31705620444641,0.6872659662644965,,,0.7864,pathogenic,0.131275583,stabilizing,-0.122285541,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679V,NP_000240:p.Glu679Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.09096,-1.77517,0.1142954082645969,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.47,H,-0.1691,0.875,-5.7245,loss_of_function,-1.97763231394216,0.7291681747602803,,,0.6581,pathogenic,0.177433172,stabilizing,-0.146389714,neutral,https://doi.org/10.1101/2022.10.22.513328 +E679W,NP_000240:p.Glu679Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.46344,-0.28776,0.8535091546360926,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2961,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9985,pathogenic,-0.23631351,destabilizing,-0.740412558,damaging,https://doi.org/10.1101/2022.10.22.513328 +E679Y,NP_000240:p.Glu679Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.6044,-0.71054,0.9774222975388364,Uncertain,Uncertain,False,0.077,,,,,,,,,,6.6,,True,6.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.47,H,-0.2868,0.875,-22.0122,loss_of_function,-4.23575526808736,0.45040070587899755,,,0.9847,pathogenic,-0.170190259,destabilizing,-0.606990541,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680A,NP_000240:p.Cys680Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12994,0.40408,0.433033313189205,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.15,H,-0.245,1.8856,-7.7279,loss_of_function,-1.44478089519363,0.794949199226487,,,0.4408,ambiguous,0.004653786,neutral,0.080849261,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680D,NP_000240:p.Cys680Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92508,1.9466,2.20929574810344,Neutral,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.15,H,-0.4251,1.8856,-22.0156,loss_of_function,-3.10810070684663,0.5896107551956029,,,0.9826,pathogenic,-1.557655817,destabilizing,-1.056325171,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680E,NP_000240:p.Cys680Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.19537,0.69762,1.2540368926583974,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.4127,1.8856,-22.0156,loss_of_function,-3.10810070684663,0.5896107551956029,,,0.9879,pathogenic,-0.677837788,destabilizing,-1.034021332,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680F,NP_000240:p.Cys680Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.65908,-0.27007,-1.2361759940647392,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2338,1.8856,-6.7279,loss_of_function,-1.98330206046073,0.7284682390533788,,,0.2459,benign,-0.028685606,neutral,0.000633774,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680G,NP_000240:p.Cys680Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.00281,2.47925,3.138547702707431,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90007,Conflicting classifications of pathogenicity,1,94.15,H,-0.3103,1.8856,-22.0156,loss_of_function,-2.75028484754891,0.6337834700776255,,,0.3588,ambiguous,-0.051648658,neutral,-0.591021834,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680H,NP_000240:p.Cys680His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25151,0.40204,0.0363643544346709,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.4236,1.8856,-22.0156,loss_of_function,-2.91606327878744,0.6133179619498943,,,0.9482,pathogenic,0.01221269,neutral,-0.308311479,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680I,NP_000240:p.Cys680Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.9521,-2.89354,-1.5289475933960872,Uncertain,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2491,1.8856,-3.8699,loss_of_function,-0.437595166557193,0.919287254313312,,,0.2732,benign,0.164028508,stabilizing,0.065767876,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680K,NP_000240:p.Cys680Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10173,1.47891,2.9145198045607783,Neutral,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.4134,1.8856,-22.0156,loss_of_function,-3.22926283400851,0.5746531730802502,,,0.9929,pathogenic,-0.942382438,destabilizing,-0.967837477,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680L,NP_000240:p.Cys680Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.50298,-1.31803,-1.9381421731586133,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2684,1.8856,-1.1581,loss_of_function,-0.311120892277115,0.9349006261427485,,,0.235,benign,0.187132111,stabilizing,0.037201076,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680M,NP_000240:p.Cys680Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-3.86524,-1.71599,-1.339668229741953,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2624,1.8856,-6.406,loss_of_function,-1.15616290656817,0.8305793698578213,,,0.383,ambiguous,0.119007609,stabilizing,0.079260437,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680N,NP_000240:p.Cys680Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06512,0.69796,0.7144555046745923,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.3675,1.8856,-22.0156,loss_of_function,-2.71557089528319,0.6380689411544844,,,0.875,pathogenic,-0.213548203,destabilizing,-1.085159676,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680P,NP_000240:p.Cys680Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.64182,8.50884,6.612878851445361,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.15,H,-0.4362,1.8856,-22.0156,loss_of_function,-3.22926283400851,0.5746531730802502,,,0.9944,pathogenic,-1.572372281,destabilizing,-1.071098195,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680Q,NP_000240:p.Cys680Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31071,-0.12789,0.3963061586363109,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.3915,1.8856,-22.0156,loss_of_function,-3.10810070684663,0.5896107551956029,,,0.9698,pathogenic,-0.034714405,neutral,-0.694728816,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680R,NP_000240:p.Cys680Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.35226,0.90102,1.135288232338458,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,90006,Likely pathogenic,3,94.15,H,-0.3701,1.8856,-22.0156,loss_of_function,-3.22926283400851,0.5746531730802502,,,0.9665,pathogenic,-1.545580398,destabilizing,-1.005781351,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680S,NP_000240:p.Cys680Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83232,1.13741,1.679109531192175,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.15,H,-0.3086,1.8856,-22.0156,loss_of_function,-1.46100419368314,0.7929464172927024,,,0.4646,ambiguous,0.03627232,neutral,-0.420159046,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680T,NP_000240:p.Cys680Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10034,-0.62483,0.5075688900684824,Neutral,Neutral,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2487,1.8856,-3.48,loss_of_function,-0.923064322101411,0.8593556161965449,,,0.3712,ambiguous,-0.012562086,neutral,0.000106594,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680V,NP_000240:p.Cys680Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.0098,-1.62041,-1.1079792841761915,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2618,1.8856,-6.7279,loss_of_function,-0.821383565852228,0.8719082041774103,,,0.244,benign,0.127475012,stabilizing,0.032355619,neutral,https://doi.org/10.1101/2022.10.22.513328 +C680W,NP_000240:p.Cys680Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.09242,0.06769,-0.0032056705383798,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.315,1.8856,-22.0156,loss_of_function,-2.91606327878744,0.6133179619498943,,,0.7838,pathogenic,0.122820271,stabilizing,-0.886106466,damaging,https://doi.org/10.1101/2022.10.22.513328 +C680Y,NP_000240:p.Cys680Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41985,-1.22619,-0.0910703424896947,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.15,H,-0.2534,1.8856,-8.7278,loss_of_function,-1.22061901781402,0.8226222004074369,,,0.6102,pathogenic,0.005342163,neutral,-0.405693279,neutral,https://doi.org/10.1101/2022.10.22.513328 +A681C,NP_000240:p.Ala681Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.46009,1.98946,2.3659768287139284,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2437,1.0412,-22.0156,loss_of_function,-2.58668478324385,0.6539800566945844,,,0.8884,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681D,NP_000240:p.Ala681Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),11.07246,7.09082,5.53000992952154,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.3254,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9941,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681E,NP_000240:p.Ala681Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.79822,10.28503,6.675593770884096,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2432,1.0412,-8.7278,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681F,NP_000240:p.Ala681Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),17.60728,13.42653,7.068487174651919,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.226,1.0412,-8.7278,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9783,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681G,NP_000240:p.Ala681Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.82312,2.13401,2.516917774730322,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,94.7,H,-0.1485,1.0412,-4.6405,loss_of_function,-1.26448617297517,0.8172067575552893,,,0.1558,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681H,NP_000240:p.Ala681His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),20.49872,7.94286,6.796143095069065,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2979,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9859,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681I,NP_000240:p.Ala681Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.60216,7.75136,4.95117590520654,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2833,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9833,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681K,NP_000240:p.Ala681Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.38964,6.25442,8.37960458837121,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.3157,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681L,NP_000240:p.Ala681Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.1519,8.49014,5.32474076624133,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.288,1.0412,-22.0156,loss_of_function,-3.43786102058554,0.5489015246243686,,,0.961,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681M,NP_000240:p.Ala681Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31291,5.67721,5.338791881202784,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2468,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9583,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681N,NP_000240:p.Ala681Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.40276,6.70816,4.229645468037799,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2957,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9822,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681P,NP_000240:p.Ala681Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.68507,12.29694,9.587471436157871,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,233523,Pathogenic/Likely pathogenic,2,94.7,H,-0.3651,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9855,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681Q,NP_000240:p.Ala681Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.28534,7.57177,5.821686977231527,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.2932,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.971,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681R,NP_000240:p.Ala681Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.67386,5.10544,7.837936846470741,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.3264,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9824,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681S,NP_000240:p.Ala681Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78896,2.12789,2.435118065046637,Uncertain,Uncertain,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,94.7,H,-0.107,1.0412,-2.1581,loss_of_function,-0.263168398457712,0.9408204080146974,,,0.1219,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681T,NP_000240:p.Ala681Thr,"hg19,3:g.37090446G>A",,,0.831,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.03113,3.82245,3.237891009083981,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,17099,Pathogenic,3,94.7,H,-0.2143,1.0412,-22.0156,loss_of_function,-2.58668478324385,0.6539800566945844,,,0.7352,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681V,NP_000240:p.Ala681Val,"hg38,3:g.37048956C>T",,,0.785,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.6344,4.39864,3.1538380452648123,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,90011,Conflicting classifications of pathogenicity,1,94.7,H,-0.2113,1.0412,-22.0156,loss_of_function,-3.92228053403213,0.4890994658426194,,,0.9003,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681W,NP_000240:p.Ala681Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.45694,8.78061,8.075187221642919,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.3047,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9966,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A681Y,NP_000240:p.Ala681Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),19.05488,15.4619,7.844810797245127,Destabilizing,Destabilizing,False,0.124,,,,,,,,,,0.9,,True,0.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,94.7,H,-0.3129,1.0412,-22.0156,loss_of_function,-4.07180624382252,0.4706403719414535,,,0.9879,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +M682A,NP_000240:p.Met682Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25013,0.5483,0.9595465930548158,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,0.0115,3.4803,-4.0172,gain_of_function,-0.536487133425214,0.9070789450864455,,,0.1549,benign,-0.076421317,neutral,-0.117387162,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682C,NP_000240:p.Met682Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17874,1.05986,1.516104311968935,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.0858,3.4803,-22.0054,loss_of_function,-1.36649626813058,0.8046135123670186,,,0.4468,ambiguous,-0.14059071,destabilizing,0.075595589,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682D,NP_000240:p.Met682Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.55691,1.61497,1.7821437747009794,Uncertain,Uncertain,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.1137,3.4803,-6.7176,loss_of_function,-1.17976094461199,0.8276661691731712,,,0.525,ambiguous,-0.083333822,destabilizing,-0.524125953,damaging,https://doi.org/10.1101/2022.10.22.513328 +M682E,NP_000240:p.Met682Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71814,1.19082,1.3392735997594174,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.1023,3.4803,-6.3957,loss_of_function,-1.10925286702262,0.8363704597385687,,,0.2699,benign,-0.03820613,neutral,0.005720601,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682F,NP_000240:p.Met682Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.66828,-0.88571,0.4176790003362313,Uncertain,Uncertain,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.24,H,0.0059,3.4803,-4.1327,gain_of_function,-0.754336237882774,0.880185261845589,,,0.2009,benign,0.094512884,neutral,-0.154714531,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682G,NP_000240:p.Met682Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43064,1.56463,2.077063894379998,Neutral,Uncertain,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.1612,3.4803,-22.0054,loss_of_function,-1.49591062692196,0.7886371842530238,,,0.2894,benign,0.029609618,neutral,-0.077159501,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682H,NP_000240:p.Met682His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48341,1.47755,0.7539519225456576,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.0538,3.4803,-5.3957,loss_of_function,-0.521806930658646,0.908891230356558,,,0.2277,benign,-0.042702426,neutral,-0.073939043,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682I,NP_000240:p.Met682Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70981,-0.29082,0.6412111337391426,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,-,-,uncertain,neutral,"1784979, 1784978","Uncertain significance, Uncertain significance","1, 1",93.24,H,0.0958,3.4803,-3.7177,gain_of_function,-0.0362746918043022,0.9688306561691458,,,0.1558,benign,0.01599778,neutral,0.015918164,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682K,NP_000240:p.Met682Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26849,-0.09966,0.8159860815986458,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.24,H,-0.0533,3.4803,-4.4697,loss_of_function,-0.59716159800303,0.8995886235851137,,,0.0961,benign,-0.017458224,neutral,0.002405905,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682L,NP_000240:p.Met682Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81543,0.20408,0.2699375596695486,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.24,H,0.1311,3.4803,-3.2582,gain_of_function,-0.0419666168086442,0.9681279825066644,,,0.0805,benign,0.158617061,stabilizing,0.036539163,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682N,NP_000240:p.Met682Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69117,1.18503,1.1495115363740185,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.0512,3.4803,-5.9103,loss_of_function,-1.04393026974579,0.8444345977298974,,,0.2474,benign,-0.034850339,neutral,-0.132858374,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682P,NP_000240:p.Met682Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.50726,6.3949,6.122280923124476,Destabilizing,Destabilizing,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.2512,3.4803,-22.0054,loss_of_function,-2.15277024920129,0.7075472267832632,,,0.7744,pathogenic,-1.113821428,destabilizing,-0.867455043,damaging,https://doi.org/10.1101/2022.10.22.513328 +M682Q,NP_000240:p.Met682Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.38144,0.72687,1.0087776379282498,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.0407,3.4803,-5.3957,loss_of_function,-0.539955378388778,0.9066507868817835,,,0.1314,benign,0.011585804,neutral,0.293240371,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682R,NP_000240:p.Met682Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08436,-0.04762,0.4876618951440431,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.24,H,-0.0783,3.4803,-4.0172,loss_of_function,-0.465011962740594,0.915902624232452,,,0.0861,benign,-0.022890889,neutral,0.226880906,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682S,NP_000240:p.Met682Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67914,1.31293,1.489205598526595,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.24,H,-0.0179,3.4803,-3.6302,loss_of_function,-0.543845311941898,0.9061705708117378,,,0.1709,benign,0.010020599,neutral,-0.094526708,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682T,NP_000240:p.Met682Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16886,0.59932,1.2595024201606582,Uncertain,Uncertain,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,405396,Uncertain significance,2,93.24,H,0.0368,3.4803,-4.7177,gain_of_function,-0.333835817167293,0.9320964466334621,,,0.1042,benign,-0.051264799,neutral,0.020213417,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682V,NP_000240:p.Met682Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.9574,-0.10816,0.832681601363894,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,945592,Uncertain significance,2,93.24,H,0.0558,3.4803,-5.2582,gain_of_function,-0.0489908084834078,0.9672608392315313,,,0.0662,benign,-0.1101838,destabilizing,-0.0147034,neutral,https://doi.org/10.1101/2022.10.22.513328 +M682W,NP_000240:p.Met682Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31165,-1.69014,0.0954057142276842,Uncertain,Uncertain,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.24,H,-0.0803,3.4803,-8.7175,loss_of_function,-1.1336484790608,0.8333587977707343,,,0.3908,ambiguous,-0.040222352,neutral,-0.544741687,damaging,https://doi.org/10.1101/2022.10.22.513328 +M682Y,NP_000240:p.Met682Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.71104,-0.49694,0.498172539615343,Neutral,Neutral,False,0.129,,,,,,,Uncertain,Uncertain,Uncertain,24.7,,False,24.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.24,H,-0.0343,3.4803,-3.7177,loss_of_function,-0.568843428622956,0.9030845290613604,,,0.357,ambiguous,0.135523808,stabilizing,0.001205983,neutral,https://doi.org/10.1101/2022.10.22.513328 +F683A,NP_000240:p.Phe683Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.44499,4.11122,3.911420618035356,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.385,0.6854,-22.002,loss_of_function,-2.71037734834788,0.6387100895609584,,,0.9693,pathogenic,-0.024182007,neutral,-1.05438793,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683C,NP_000240:p.Phe683Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74112,4.8432,4.378968287962391,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.3532,0.6854,-22.002,loss_of_function,-2.73482411309862,0.6356921127411445,,,0.8481,pathogenic,-0.317569084,destabilizing,-0.956784345,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683D,NP_000240:p.Phe683Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.30719,6.12041,5.082916888937212,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.508,0.6854,-22.002,loss_of_function,-4.157707357854,0.4600357960973082,,,0.9979,pathogenic,-1.507561588,destabilizing,-1.111323349,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683E,NP_000240:p.Phe683Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.65529,5.94592,4.589139009892571,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4774,0.6854,-22.002,loss_of_function,-4.157707357854,0.4600357960973082,,,0.9979,pathogenic,-1.508756326,destabilizing,-1.039653595,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683G,NP_000240:p.Phe683Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.96174,6.12687,5.437919703774915,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4204,0.6854,-22.002,loss_of_function,-4.41535391179245,0.4282290791178092,,,0.9829,pathogenic,-1.320852477,destabilizing,-1.088725123,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683H,NP_000240:p.Phe683His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.90618,2.84626,2.952164024984332,Uncertain,Uncertain,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4126,0.6854,-22.002,loss_of_function,-2.81211438608543,0.6261505535757657,,,0.972,pathogenic,0.09318295,neutral,-0.867344246,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683I,NP_000240:p.Phe683Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.2536,3.06327,2.911422703080304,Destabilizing,Uncertain,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.3289,0.6854,-22.002,loss_of_function,-3.4630988169591,0.5457858941834824,,,0.8593,pathogenic,-0.207229887,destabilizing,-1.0418693,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683K,NP_000240:p.Phe683Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.43779,6.98912,4.680259471110588,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4842,0.6854,-22.002,loss_of_function,-4.41535391179245,0.4282290791178092,,,0.9982,pathogenic,-1.609893537,destabilizing,-1.039071527,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683L,NP_000240:p.Phe683Leu,"hg19,3:g.37090454C>A, hg38,3:g.37048963C>A",,,0.720,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23295,1.47381,2.237096567634262,Uncertain,Uncertain,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"1310017, 847019","Conflicting classifications of pathogenicity, Uncertain significance","1, 1",93.44,H,-0.2002,0.6854,-4.1907,loss_of_function,-1.2616232638563,0.8175601864627982,,,0.9447,pathogenic,0.219015056,stabilizing,-0.0185834,neutral,https://doi.org/10.1101/2022.10.22.513328 +F683M,NP_000240:p.Phe683Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85591,1.97551,2.51945230877638,Neutral,Uncertain,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.3221,0.6854,-22.002,loss_of_function,-3.4630988169591,0.5457858941834824,,,0.8932,pathogenic,0.082313181,neutral,-0.182299897,neutral,https://doi.org/10.1101/2022.10.22.513328 +F683N,NP_000240:p.Phe683Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07191,4.57789,4.102677402636531,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4376,0.6854,-22.002,loss_of_function,-4.157707357854,0.4600357960973082,,,0.9856,pathogenic,-1.294687103,destabilizing,-1.020951225,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683P,NP_000240:p.Phe683Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.5126,10.27279,10.132231307183156,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4406,0.6854,-8.7141,loss_of_function,-3.63107067931935,0.5250496048563286,,,0.9993,pathogenic,-1.625496422,destabilizing,-1.085728796,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683Q,NP_000240:p.Phe683Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.25645,4.63469,3.8337217105554258,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4397,0.6854,-22.002,loss_of_function,-3.77273424712136,0.5075611000092543,,,0.9948,pathogenic,-0.736459654,destabilizing,-0.979777615,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683R,NP_000240:p.Phe683Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.48773,6.24592,3.853621823865985,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4856,0.6854,-22.002,loss_of_function,-4.41535391179245,0.4282290791178092,,,0.9929,pathogenic,-1.576917914,destabilizing,-0.902330578,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683S,NP_000240:p.Phe683Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.08823,5.61871,4.890187687414744,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90012,Likely pathogenic,3,93.44,H,-0.2962,0.6854,-8.7141,loss_of_function,-2.71354132874677,0.6383194931119168,,,0.9656,pathogenic,-1.068380656,destabilizing,-1.068464237,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683T,NP_000240:p.Phe683Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.23624,4.31633,4.225968751949464,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,93.44,H,-0.4103,0.6854,-22.002,loss_of_function,-3.78026197862996,0.506631794253242,,,0.9824,pathogenic,-0.48529697,destabilizing,-0.984348025,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683V,NP_000240:p.Phe683Val,"hg19,3:g.37090452T>G",,,0.929,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.67557,3.33367,3.260531996301633,Destabilizing,Destabilizing,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2858923,Likely pathogenic,1,93.44,H,-0.3233,0.6854,-22.002,loss_of_function,-3.4630988169591,0.5457858941834824,,,0.8303,pathogenic,0.012614946,neutral,-0.953214764,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683W,NP_000240:p.Phe683Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.41158,1.97041,0.8222328222918751,Uncertain,Uncertain,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,93.44,H,-0.2224,0.6854,-5.1293,loss_of_function,-1.56754988032273,0.7797932489365621,,,0.8091,pathogenic,-0.080701333,neutral,-0.978693285,damaging,https://doi.org/10.1101/2022.10.22.513328 +F683Y,NP_000240:p.Phe683Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07346,0.86293,1.049119711619532,Neutral,Neutral,False,0.153,,,,,,,,,,5.5,,False,5.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,93.44,H,-0.1929,0.6854,-5.5443,loss_of_function,-1.30578172787334,0.8121087812498454,,,0.3286,benign,-0.013023891,neutral,-0.318513387,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y684A,NP_000240:p.Tyr684Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.60037,3.58027,4.971071962411867,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.3491,0.3682,-8.7107,loss_of_function,-3.55013377909148,0.5350413436915424,,,0.9518,pathogenic,-0.083148431,destabilizing,-0.926351886,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684C,NP_000240:p.Tyr684Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.42366,3.55,5.356408091545598,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,90013,Uncertain significance,2,93.5,H,-0.3117,0.3682,-7.1258,loss_of_function,-1.34993597497701,0.8066578966189383,,,0.3605,ambiguous,0.01777987,neutral,-0.77090223,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684D,NP_000240:p.Tyr684Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.08778,4.96531,6.500349929545261,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,663235,Uncertain significance,1,93.5,H,-0.4311,0.3682,-21.9985,loss_of_function,-3.91521867514803,0.48997125917127915,,,0.9774,pathogenic,-1.649875646,destabilizing,-1.11012264,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684E,NP_000240:p.Tyr684Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.64356,4.53401,5.816279697357693,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4599,0.3682,-21.9985,loss_of_function,-3.40582815767063,0.5528560126204356,,,0.9932,pathogenic,-1.060356582,destabilizing,-0.996291053,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684F,NP_000240:p.Tyr684Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1764,-0.22891,0.676564945920819,Neutral,Neutral,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,-,-,uncertain,neutral,2586634,Uncertain significance,2,93.5,H,-0.1705,0.3682,-5.5409,loss_of_function,-0.554533621701633,0.9048510886051241,,,0.1544,benign,0.015845554,neutral,0.004337109,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y684G,NP_000240:p.Tyr684Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.37592,5.87075,7.052003524981891,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4875,0.3682,-21.9985,loss_of_function,-4.28030357120459,0.44490117465101464,,,0.88,pathogenic,-0.957804157,destabilizing,-0.985154598,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684H,NP_000240:p.Tyr684His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.61608,2.41497,3.266102570896164,Uncertain,Uncertain,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,591339,Uncertain significance,2,93.5,H,-0.2488,0.3682,-7.1258,loss_of_function,-1.83489620204198,0.7467890862165526,,,0.7012,pathogenic,0.04227339,neutral,-0.628992094,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684I,NP_000240:p.Tyr684Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.20069,5.22007,4.133066240075369,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.429,0.3682,-21.9985,loss_of_function,-3.43623694051951,0.549102018883743,,,0.9417,pathogenic,-1.035169919,destabilizing,-1.048283399,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684K,NP_000240:p.Tyr684Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.09631,4.84388,6.096528256191465,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4851,0.3682,-21.9985,loss_of_function,-4.28030357120459,0.44490117465101464,,,0.9949,pathogenic,-1.463382969,destabilizing,-0.995303028,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684L,NP_000240:p.Tyr684Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.22139,2.91599,3.1158170367675684,Uncertain,Uncertain,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4061,0.3682,-21.9985,loss_of_function,-2.98454124951619,0.6048642900454757,,,0.805,pathogenic,-0.059719691,neutral,-0.842162536,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684M,NP_000240:p.Tyr684Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.58249,1.49082,3.668735752097811,Neutral,Uncertain,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.3582,0.3682,-21.9985,loss_of_function,-3.80860305188993,0.5031330612708073,,,0.9434,pathogenic,0.026141149,neutral,-0.627756364,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684N,NP_000240:p.Tyr684Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.08382,3.62143,5.198109771711349,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4101,0.3682,-21.9985,loss_of_function,-3.29385671211127,0.566678996177758,,,0.8394,pathogenic,-0.037927303,neutral,-0.802892755,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684P,NP_000240:p.Tyr684Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.96197,11.35204,10.086732190990023,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4733,0.3682,-8.7107,loss_of_function,-4.28030357120459,0.44490117465101464,,,0.9926,pathogenic,-1.601675621,destabilizing,-1.12566892,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684Q,NP_000240:p.Tyr684Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.439,3.1949,5.136407784277616,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4347,0.3682,-21.9985,loss_of_function,-3.91521867514803,0.48997125917127915,,,0.9754,pathogenic,-0.278056346,destabilizing,-1.035056176,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684R,NP_000240:p.Tyr684Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.95569,5.44388,5.197641813274428,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4805,0.3682,-21.9985,loss_of_function,-4.28030357120459,0.44490117465101464,,,0.9741,pathogenic,-1.594733298,destabilizing,-1.079146497,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684S,NP_000240:p.Tyr684Ser,"hg38,3:g.37048965A>C",3.1847133758e-05,7.9610862106e-06,0.920,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.00819,4.87517,6.359366051523067,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,418728,Uncertain significance,2,93.5,H,-0.3539,0.3682,-8.7107,loss_of_function,-2.52970032258063,0.6610148436336616,,,0.7762,pathogenic,-0.154263162,destabilizing,-0.922583826,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684T,NP_000240:p.Tyr684Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.33954,4.1483,5.393216737587259,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.3725,0.3682,-8.7107,loss_of_function,-3.55013377909148,0.5350413436915424,,,0.9474,pathogenic,-0.509345624,destabilizing,-1.060732498,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684V,NP_000240:p.Tyr684Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.97839,3.45782,4.258853316093554,Destabilizing,Destabilizing,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,DOWN,-,neutral,neutral,,,,93.5,H,-0.4185,0.3682,-21.9985,loss_of_function,-3.80860305188993,0.5031330612708073,,,0.8746,pathogenic,-0.832931856,destabilizing,-1.014899554,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y684W,NP_000240:p.Tyr684Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89057,2.44626,1.4408958262128853,Uncertain,Neutral,False,0.141,,,,,,,,,,0.6,,False,0.6,,uncertain,,,UP,-,neutral,neutral,,,,93.5,H,-0.3345,0.3682,-21.9985,loss_of_function,-2.72002399513738,0.637519201658347,,,0.6746,pathogenic,0.108351548,neutral,-0.501049342,neutral,https://doi.org/10.1101/2022.10.22.513328 +S685A,NP_000240:p.Ser685Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08824,-0.48571,-0.9871849884388644,Neutral,Neutral,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,-,uncertain,neutral,963570,Uncertain significance,1,92.42,S,0.0149,2.1242,-2.6642,gain_of_function,-0.552832796844882,0.9050610570833492,,,0.0628,benign,0.061742898,neutral,-0.104016269,neutral,https://doi.org/10.1101/2022.10.22.513328 +S685C,NP_000240:p.Ser685Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08042,0.71327,-0.0520206247033266,Uncertain,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.0558,2.1242,-6.6184,loss_of_function,-1.98076061855274,0.7287819825219081,,,0.1138,benign,0.009075965,neutral,-0.348901158,neutral,https://doi.org/10.1101/2022.10.22.513328 +S685D,NP_000240:p.Ser685Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.44345,4.25374,0.7784888204273224,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1091,2.1242,-7.6183,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.9696,pathogenic,-1.097198279,destabilizing,-0.913630221,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685E,NP_000240:p.Ser685Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.42331,6.67381,0.9928802085127432,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.0731,2.1242,-5.811,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.9575,pathogenic,-0.556466761,destabilizing,-1.051814893,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685F,NP_000240:p.Ser685Phe,"hg19,3:g.37090459C>T",,,0.832,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.607,6.80986,-0.1625113687271451,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,422929,Conflicting classifications of pathogenicity,1,92.42,S,-0.1614,2.1242,-21.9061,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.8208,pathogenic,-0.608422092,destabilizing,-1.147923688,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685G,NP_000240:p.Ser685Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33615,1.61327,0.4532785626750768,Neutral,Neutral,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,92.42,S,-0.0104,2.1242,-5.811,loss_of_function,-1.52256477763288,0.7853467034954442,,,0.1215,benign,0.127142161,stabilizing,-0.900298095,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685H,NP_000240:p.Ser685His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),16.10071,6.06156,0.098051030422801,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1626,2.1242,-21.9061,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.8751,pathogenic,-0.269071315,destabilizing,-1.073745522,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685I,NP_000240:p.Ser685Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.27533,6.78741,0.0430985280393864,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,619863,Uncertain significance,1,92.42,S,-0.0805,2.1242,-5.4485,loss_of_function,-2.03729436413612,0.7218028367965935,,,0.6893,pathogenic,-0.443008965,destabilizing,-0.877977302,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685K,NP_000240:p.Ser685Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.14941,4.55374,1.248686333887778,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.096,2.1242,-7.0334,loss_of_function,-2.39008550829281,0.6782504278722882,,,0.9757,pathogenic,-0.014085882,neutral,-0.992226069,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685L,NP_000240:p.Ser685Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.10546,4.01531,-0.6491016061852212,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.093,2.1242,-8.6182,loss_of_function,-2.10640734248983,0.7132707725849687,,,0.4644,ambiguous,-0.666086551,destabilizing,-1.019828678,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685M,NP_000240:p.Ser685Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.58056,3.25034,-0.3776540224851121,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.064,2.1242,-8.6182,loss_of_function,-3.07994213739941,0.59308695790534,,,0.6937,pathogenic,0.028420512,neutral,-0.928834493,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685N,NP_000240:p.Ser685Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.73069,3.17415,-0.1306451878522341,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1056,2.1242,-21.9061,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.7581,pathogenic,-0.324327606,destabilizing,-1.056886339,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685P,NP_000240:p.Ser685Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.94358,9.9619,5.31246128126152,Destabilizing,Destabilizing,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1558,2.1242,-6.0334,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.9359,pathogenic,-0.369002104,destabilizing,-1.006719805,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685Q,NP_000240:p.Ser685Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.7682,4.97721,0.2065449371417277,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.0574,2.1242,-8.6182,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.8996,pathogenic,-0.077464318,neutral,-1.109260362,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685R,NP_000240:p.Ser685Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.69072,4.42279,0.3008068830407295,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1094,2.1242,-8.6182,loss_of_function,-2.21132201345123,0.7003189546962509,,,0.9088,pathogenic,-0.033195968,neutral,-0.924622485,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685T,NP_000240:p.Ser685Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16898,2.14014,-0.1138952149562777,Uncertain,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,neutral,,,UP,-,neutral,neutral,,,,92.42,S,0.0178,2.1242,-3.9179,gain_of_function,-1.5083760205551,0.7870983193186142,,,0.256,benign,0.016126283,neutral,-0.696749043,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685V,NP_000240:p.Ser685Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.50611,3.27415,-0.4579145000976886,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.0446,2.1242,-3.4485,loss_of_function,-2.11996814859931,0.7115966779178958,,,0.499,ambiguous,0.103046904,neutral,-1.053526486,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685W,NP_000240:p.Ser685Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),41.74648,9.92313,0.0724144495496453,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,92.42,S,-0.1711,2.1242,-21.9061,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.8875,pathogenic,-1.03452378,destabilizing,-1.169338625,damaging,https://doi.org/10.1101/2022.10.22.513328 +S685Y,NP_000240:p.Ser685Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.54823,6.61259,0.33083559983619,Destabilizing,Uncertain,False,0.113,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,619555,Uncertain significance,1,92.42,S,-0.1662,2.1242,-21.9061,loss_of_function,-4.00691021442299,0.47865184971459385,,,0.7616,pathogenic,-1.220176391,destabilizing,-1.070356856,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686A,NP_000240:p.Ile686Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.74608,3.6881,3.520153983838024,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.1231,2.4234,-6.5117,loss_of_function,-2.03670149571338,0.7218760269784139,,,0.538,ambiguous,0.102470333,neutral,-0.852825362,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686C,NP_000240:p.Ile686Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92071,2.63776,3.208188121948799,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.1014,2.4234,-6.1898,loss_of_function,-2.13871690372497,0.7092821259128949,,,0.6709,pathogenic,0.116927736,stabilizing,-0.216964595,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686D,NP_000240:p.Ile686Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.07032,4.13367,4.638019179934362,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.3251,2.4234,-21.7995,loss_of_function,-1.69319949837269,0.7642816817185819,,,0.9249,pathogenic,0.085050362,neutral,-1.045740995,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686E,NP_000240:p.Ile686Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.87024,3.9898,4.347687585524765,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.2382,2.4234,-8.5116,loss_of_function,-1.41871032685336,0.7981676361743831,,,0.8561,pathogenic,-0.133706188,destabilizing,-1.003697651,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686F,NP_000240:p.Ile686Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.04934,2.38878,1.0637812497405663,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.41,-,-0.0729,2.4234,-4.3418,loss_of_function,-1.33736726894607,0.8082095155690606,,,0.1532,benign,-0.084669751,destabilizing,0.033267771,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686G,NP_000240:p.Ile686Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.72713,5.78503,5.845993169207665,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.2917,2.4234,-21.7995,loss_of_function,-2.5268514711037,0.6613665371116383,,,0.8129,pathogenic,0.032537807,neutral,-1.034527949,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686H,NP_000240:p.Ile686His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12069,3.22891,2.7568850925583703,Destabilizing,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.2917,2.4234,-21.7995,loss_of_function,-2.7901676922527,0.6288598942158897,,,0.7374,pathogenic,0.074301257,neutral,-0.884206168,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686K,NP_000240:p.Ile686Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.65236,5.98878,6.295475830772688,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.41,-,-0.2307,2.4234,-8.5116,loss_of_function,-1.80572758599636,0.7503899801585239,,,0.7639,pathogenic,-0.139110054,destabilizing,-0.909798885,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686L,NP_000240:p.Ile686Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18035,1.28129,0.5858142379959793,Neutral,Neutral,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.41,-,0.0061,2.4234,-3.7044,gain_of_function,-0.227582418061712,0.9452135318100343,,,0.1126,benign,-0.010364964,neutral,-0.142063578,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686M,NP_000240:p.Ile686Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00102,1.94354,1.3514930096255322,Neutral,Neutral,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1501839,Uncertain significance,2,87.41,-,-0.0065,2.4234,-5.0523,loss_of_function,-0.489200456232729,0.9129165312500144,,,0.1169,benign,-0.03481553,neutral,0.033406662,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686N,NP_000240:p.Ile686Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.57859,3.20374,3.19179626306448,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1785150,Uncertain significance,1,87.41,-,-0.1704,2.4234,-8.5116,loss_of_function,-1.40237124999914,0.8001847110595867,,,0.6017,pathogenic,0.083040486,neutral,-0.894404727,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686P,NP_000240:p.Ile686Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.85828,4.18639,7.47428296969353,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.2455,2.4234,-2.2829,loss_of_function,-1.64535381114094,0.7701882782136914,,,0.7939,pathogenic,0.11461023,stabilizing,-0.52475474,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686Q,NP_000240:p.Ile686Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.75575,2.86327,3.123105480643438,Uncertain,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.1848,2.4234,-5.9268,loss_of_function,-1.38289019203964,0.8025896665596981,,,0.7318,pathogenic,0.035962142,neutral,-0.879648148,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686R,NP_000240:p.Ile686Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.72648,5.7466,5.064527096316161,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.41,-,-0.3253,2.4234,-21.7995,loss_of_function,-2.32033942183195,0.686860649893803,,,0.666,pathogenic,-0.131407621,destabilizing,-1.010069788,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686S,NP_000240:p.Ile686Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.28703,3.9983,4.434378619244968,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.41,-,-0.1636,2.4234,-6.5117,loss_of_function,-1.93223077371924,0.7347730389365298,,,0.5684,pathogenic,-0.018329734,neutral,-0.928742948,damaging,https://doi.org/10.1101/2022.10.22.513328 +I686T,NP_000240:p.Ile686Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.7915,2.78333,2.8514829549188496,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,820617,Uncertain significance,2,87.41,-,-0.0788,2.4234,-6.1898,loss_of_function,-1.67169078832193,0.7669369528360137,,,0.4741,ambiguous,0.100630858,neutral,-0.473114806,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686V,NP_000240:p.Ile686Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.22788,0.64558,0.7809257239481249,Uncertain,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1999269,Uncertain significance,1,87.41,-,0.0472,2.4234,-3.4674,gain_of_function,-0.0604219824276791,0.9658496497208199,,,0.0649,benign,0.099550027,neutral,-0.01084748,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686W,NP_000240:p.Ile686Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.18912,12.86837,3.4878968982648653,Destabilizing,Destabilizing,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.41,-,-0.2509,2.4234,-21.7995,loss_of_function,-2.7901676922527,0.6288598942158897,,,0.8095,pathogenic,0.018658164,neutral,-0.244640704,neutral,https://doi.org/10.1101/2022.10.22.513328 +I686Y,NP_000240:p.Ile686Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.74551,4.08333,2.5198063298068782,Destabilizing,Uncertain,False,0.13,,,,,,,,,,0.0,,False,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.41,-,-0.2598,2.4234,-21.7995,loss_of_function,-1.66760466302347,0.7674413889673114,,,0.5994,pathogenic,0.04985863,neutral,-0.28297753,neutral,https://doi.org/10.1101/2022.10.22.513328 +R687A,NP_000240:p.Arg687Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76373,1.36156,1.8624274840278192,Neutral,Neutral,False,0.106,0.0513,,,-0.02273,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1026,2.4361,-5.9425,loss_of_function,-2.24678199872007,0.6959413851215667,,,0.7379,pathogenic,0.193270659,stabilizing,-1.036698094,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687C,NP_000240:p.Arg687Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4745,1.43061,2.079403333789318,Neutral,Uncertain,False,0.106,0.03112,,,-0.03609,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1246,2.4361,-8.5273,loss_of_function,-2.20604128075693,0.7009708662692352,,,0.1948,benign,0.138973615,stabilizing,-1.008617001,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687D,NP_000240:p.Arg687Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94425,1.27075,2.757273437967077,Neutral,Uncertain,False,0.106,0.12564,,,0.02624,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1987,2.4361,-6.9425,loss_of_function,-2.02300284491138,0.7235671387064765,,,0.855,pathogenic,0.266533711,stabilizing,-0.800133193,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687E,NP_000240:p.Arg687Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.80103,1.53707,2.300497798568923,Neutral,Uncertain,False,0.106,0.04778,,,-0.03588,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1219,2.4361,-2.6206,loss_of_function,-1.65926683765273,0.7684707015963287,,,0.5323,ambiguous,0.235224304,stabilizing,-1.006925949,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687F,NP_000240:p.Arg687Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5452,1.61327,0.8746318669802883,Neutral,Neutral,False,0.106,0.0609,,,0.05753,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.7,-,-0.1479,2.4361,-8.5273,loss_of_function,-3.1996966576563,0.5783031462276704,,,0.8522,pathogenic,0.140601,stabilizing,-1.020270922,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687G,NP_000240:p.Arg687Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.80891,2.86667,2.8729817095242973,Uncertain,Uncertain,False,0.106,0.01568,,,-0.02401,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,405422,Uncertain significance,2,84.7,-,-0.1328,2.4361,-4.9425,loss_of_function,-2.34563949217491,0.6837373316709937,,,0.4302,ambiguous,0.152047235,stabilizing,-0.56577788,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687H,NP_000240:p.Arg687His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.69893,1.23401,1.4399237189975918,Uncertain,Uncertain,False,0.106,0.0657,,,-0.05928,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.0723,2.4361,-5.9425,loss_of_function,-1.55377176228553,0.7814941709718866,,,0.1682,benign,0.167244857,stabilizing,-0.904794035,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687I,NP_000240:p.Arg687Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0301,0.31769,0.7820098367349337,Neutral,Neutral,False,0.106,0.00074,,,0.04982,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.132,2.4361,-5.9425,loss_of_function,-1.5987931169667,0.7759362410695146,,,0.6862,pathogenic,0.013702139,neutral,-1.048793731,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687K,NP_000240:p.Arg687Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3286,2.19796,1.5481637784048066,Uncertain,Neutral,False,0.106,0.10856,,,0.04464,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,84.7,-,0.0188,2.4361,-3.6695,gain_of_function,-0.7837630094603,0.8765524983528147,,,0.1841,benign,0.108644617,neutral,-0.142562938,neutral,https://doi.org/10.1101/2022.10.22.513328 +R687L,NP_000240:p.Arg687Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03594,1.01463,0.4698757490662014,Neutral,Neutral,False,0.106,0.09224,,,0.00952,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1063,2.4361,-6.2055,loss_of_function,-1.7894168683333,0.7524035540740726,,,0.5654,pathogenic,-0.124827289,destabilizing,-0.974650432,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687M,NP_000240:p.Arg687Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37982,-0.04184,0.9531276528397928,Neutral,Neutral,False,0.106,0.08042,,,0.01604,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1519,2.4361,-21.8152,loss_of_function,-1.56332204929804,0.7803151787772057,,,0.6674,pathogenic,0.088009465,neutral,-1.078567535,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687N,NP_000240:p.Arg687Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82085,0.93639,1.8545742461232475,Neutral,Neutral,False,0.106,0.05736,,,0.0198,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1255,2.4361,-7.5274,loss_of_function,-2.093449423434,0.7148704402605182,,,0.8089,pathogenic,0.28844065,stabilizing,-0.294792908,neutral,https://doi.org/10.1101/2022.10.22.513328 +R687P,NP_000240:p.Arg687Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08356,3.05136,5.22372022025922,Uncertain,Uncertain,False,0.106,0.1276,,,-0.06287,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.2308,2.4361,-3.2421,loss_of_function,-1.81436713731573,0.7493234191684991,,,0.8265,pathogenic,-0.007458861,neutral,-0.865339999,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687Q,NP_000240:p.Arg687Gln,"hg19,3:g.37090465G>A, hg38,3:g.37048974G>A",,1.19436260849e-05,0.642,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07441,1.44082,1.592168855539533,Neutral,Neutral,False,0.106,0.08552,,,0.02135,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,140838,Uncertain significance,2,84.7,-,-0.0786,2.4361,-6.2055,loss_of_function,-1.26628718847669,0.8169844204447908,,,0.1084,benign,0.248150838,stabilizing,-0.280704034,neutral,https://doi.org/10.1101/2022.10.22.513328 +R687S,NP_000240:p.Arg687Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.98569,1.0602,2.3529797520684737,Neutral,Uncertain,False,0.106,0.0612,,,0.10346,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1031,2.4361,-5.9425,loss_of_function,-2.12600804977588,0.7108510462594447,,,0.7168,pathogenic,0.146860525,stabilizing,-0.763556802,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687T,NP_000240:p.Arg687Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11763,0.19558,1.9284668312320168,Neutral,Neutral,False,0.106,0.06884,,,-0.12361,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1884,2.4361,-21.8152,loss_of_function,-2.48359762853057,0.6667062659299327,,,0.5605,ambiguous,0.299148833,stabilizing,-0.707609921,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687V,NP_000240:p.Arg687Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62249,0.98776,1.0342227600290763,Neutral,Neutral,False,0.106,0.1165,,,0.0924,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,84.7,-,-0.1322,2.4361,-8.5273,loss_of_function,-1.58538199507328,0.7775918570749337,,,0.7161,pathogenic,0.131105252,stabilizing,-0.918194556,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687W,NP_000240:p.Arg687Trp,"hg19,3:g.37090464C>T, hg38,3:g.37048973C>T",,1.99047755538e-05,0.881,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00408,0.39116,0.5995547104961287,Neutral,Neutral,False,0.106,0.08004,,,-0.15642,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,90014,Pathogenic,3,84.7,-,-0.2013,2.4361,-21.8152,loss_of_function,-2.67887543037191,0.6425990318893406,,,0.2601,benign,-0.020834685,neutral,-1.052249016,damaging,https://doi.org/10.1101/2022.10.22.513328 +R687Y,NP_000240:p.Arg687Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77298,1.72177,0.9937225716960196,Neutral,Neutral,False,0.106,0.06276,,,0.07091,,,Uncertain,Neutral,Uncertain,26.5,,False,26.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,84.7,-,-0.205,2.4361,-21.8152,loss_of_function,-3.1996966576563,0.5783031462276704,,,0.6455,pathogenic,0.123921106,stabilizing,-1.007278438,damaging,https://doi.org/10.1101/2022.10.22.513328 +K688A,NP_000240:p.Lys688Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54043,0.43299,-0.0608172735577988,Neutral,Neutral,False,0.062,0.29378,,,0.15403,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,0.0053,2.6127,-5.1066,gain_of_function,-1.82526712943773,0.7479778045689495,,,0.3871,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688C,NP_000240:p.Lys688Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91595,0.7881,0.4657555005857539,Neutral,Neutral,False,0.062,0.32592,,,-0.0471,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0825,2.6127,-8.5659,loss_of_function,-2.78630259848497,0.6293370437903365,,,0.6657,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688D,NP_000240:p.Lys688Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09515,0.50476,0.0769173555525881,Neutral,Neutral,False,0.062,0.41206,,,0.04271,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.1081,2.6127,-5.9811,loss_of_function,-1.61849285267694,0.773504289588975,,,0.5099,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688E,NP_000240:p.Lys688Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16293,0.39592,-0.129279934790496,Neutral,Neutral,False,0.062,0.54934,,,0.001,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0124,2.6127,-3.7081,loss_of_function,-1.82047014378985,0.7485699970998587,,,0.1472,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688F,NP_000240:p.Lys688Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24203,0.1915,-0.2281819080919073,Neutral,Neutral,False,0.062,0.26326,,,0.01091,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.61,G,-0.1512,2.6127,-21.8538,loss_of_function,-3.33216997314691,0.5619491869422212,,,0.8288,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688G,NP_000240:p.Lys688Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1976,1.69898,0.8736468340432026,Neutral,Neutral,False,0.062,0.2993,,,0.09526,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0613,2.6127,-6.566,loss_of_function,-2.36160571688462,0.6817662857446657,,,0.3559,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688H,NP_000240:p.Lys688His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25055,0.50136,-0.3727084887887671,Neutral,Neutral,False,0.062,0.31584,,,-0.05101,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0902,2.6127,-21.8538,loss_of_function,-3.03243035209199,0.5989523338840339,,,0.3289,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688I,NP_000240:p.Lys688Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11304,0.22279,-0.5379060361895,Neutral,Neutral,False,0.062,0.29386,,,0.09076,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,79.61,G,-0.0507,2.6127,-8.5659,loss_of_function,-1.96691204482872,0.7304916023801068,,,0.5155,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688L,NP_000240:p.Lys688Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55515,0.68844,-0.6476247326394696,Neutral,Neutral,False,0.062,0.29104,,,0.10462,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,79.61,G,-0.0332,2.6127,-5.3961,loss_of_function,-2.05247336510724,0.7199289744043362,,,0.4227,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688M,NP_000240:p.Lys688Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42358,0.30884,-0.2197974371426136,Neutral,Neutral,False,0.062,0.29036,,,0.00789,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0173,2.6127,-7.566,loss_of_function,-0.75640124650409,0.8799303345284004,,,0.293,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688N,NP_000240:p.Lys688Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8811,0.72007,-0.0908232169856282,Neutral,Neutral,False,0.062,0.31996,,,0.03975,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0129,2.6127,-5.1066,loss_of_function,-1.50790138493509,0.7871569135462616,,,0.3875,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688P,NP_000240:p.Lys688Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.59138,-0.2034,0.3849611517726398,Neutral,Neutral,False,0.062,0.26848,,,-0.06067,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.1558,2.6127,-2.5217,loss_of_function,-1.14979277906317,0.8313657682768092,,,0.4514,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688Q,NP_000240:p.Lys688Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29693,0.5017,0.0101439132836222,Neutral,Neutral,False,0.062,0.33336,,,-0.06872,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,0.0127,2.6127,-3.8112,gain_of_function,-0.65897605517905,0.8919575688918353,,,0.1158,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688R,NP_000240:p.Lys688Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44406,0.6068,-0.3629518818819682,Neutral,Neutral,False,0.062,-0.0843,,,0.0027,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,-,-,uncertain,neutral,483553,Uncertain significance,1,79.61,G,0.0702,2.6127,-5.3961,gain_of_function,-0.458065390599335,0.9167601853008894,,,0.0911,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688S,NP_000240:p.Lys688Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20342,0.44898,0.1223670247939573,Neutral,Neutral,False,0.062,0.28094,,,0.06363,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0036,2.6127,-4.8656,loss_of_function,-0.863911566464668,0.8666580812531698,,,0.3399,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688T,NP_000240:p.Lys688Thr,"hg19,3:g.37090468A>C",,,0.500,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31721,0.5068,-0.0473860466237741,Neutral,Neutral,False,0.062,0.32512,,,0.06333,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0343,2.6127,-8.5659,loss_of_function,-1.92292034624163,0.7359224202389835,,,0.2211,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688V,NP_000240:p.Lys688Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79713,0.45204,-0.3016857460194821,Neutral,Neutral,False,0.062,0.23338,,,0.0262,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,79.61,G,-0.0294,2.6127,-7.566,loss_of_function,-1.96689954206341,0.7304931458586109,,,0.4708,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688W,NP_000240:p.Lys688Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1557,0.24864,-0.6995108186295218,Neutral,Neutral,False,0.062,0.18876,,,-0.00246,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.61,G,-0.0873,2.6127,-7.566,loss_of_function,-2.63583007754537,0.6479130224462006,,,0.7509,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +K688Y,NP_000240:p.Lys688Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21516,0.03571,-0.2074325172853103,Neutral,Neutral,False,0.062,0.36648,,,-0.01594,,,Uncertain,Neutral,Uncertain,71.0,,False,71.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,79.61,G,-0.0632,2.6127,-7.566,loss_of_function,-3.33216997314691,0.5619491869422212,,,0.6216,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Q689A,NP_000240:p.Gln689Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31002,0.78639,0.4332339962235659,Neutral,Neutral,False,0.053,0.11322,,,0.07817,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,0.0518,2.9346,-6.2326,gain_of_function,-1.5537192248269,0.7815006567721114,,,0.1549,benign,0.02884726,neutral,-0.042453157,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689C,NP_000240:p.Gln689Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39558,0.61156,0.9810711905121288,Neutral,Neutral,False,0.053,0.2042,,,0.00031,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,-0.0011,2.9346,-7.5545,loss_of_function,-2.64258102595862,0.6470796113167246,,,0.4635,ambiguous,0.067217281,neutral,-0.013103008,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689D,NP_000240:p.Gln689Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51191,0.27279,0.6957991337553177,Neutral,Neutral,False,0.053,0.28542,,,-0.0064,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,-0.0283,2.9346,-4.9696,loss_of_function,-0.698638669965205,0.8870611806270362,,,0.2,benign,0.114502666,stabilizing,0.164412068,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689E,NP_000240:p.Gln689Glu,"hg38,3:g.37048979C>G",,,0.371,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08013,-0.00816,0.4603426608372019,Neutral,Neutral,False,0.053,0.13262,,,-0.01627,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,0.0591,2.9346,-3.7997,gain_of_function,-0.416449115233972,0.9218977548590804,,,0.0659,benign,0.123603725,stabilizing,0.030541454,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689F,NP_000240:p.Gln689Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01264,1.04218,0.0065551952052828,Neutral,Neutral,False,0.053,-0.29856,,,-0.00331,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,76.37,G,-0.0092,2.9346,-7.5545,loss_of_function,-1.85791956772566,0.7439468293921464,,,0.5757,pathogenic,0.160402963,stabilizing,-0.138193049,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689G,NP_000240:p.Gln689Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97153,2.02449,1.5254461641342292,Uncertain,Neutral,False,0.053,0.0986,,,-0.07036,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,-0.0137,2.9346,-5.2327,loss_of_function,-1.57289465609357,0.7791334311836624,,,0.1736,benign,-0.069365026,neutral,0.034206773,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689H,NP_000240:p.Gln689His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51118,1.35068,0.1189546669234081,Neutral,Neutral,False,0.053,0.12638,,,0.0034,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,1913631,Uncertain significance,2,76.37,G,0.0491,2.9346,-6.5546,gain_of_function,-0.954440176434723,0.85548223654712,,,0.1739,benign,0.038735597,neutral,0.003720628,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689I,NP_000240:p.Gln689Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5197,0.05646,-0.1987368466562916,Neutral,Neutral,False,0.053,0.09406,,,-0.02276,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,76.37,G,0.0125,2.9346,-6.9696,gain_of_function,-1.82768112204216,0.7476797948405599,,,0.2673,benign,0.050993122,neutral,0.007232853,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689K,NP_000240:p.Gln689Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45835,0.49116,0.3818288816030923,Neutral,Neutral,False,0.053,-0.18804,,,0.03541,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,232338,Uncertain significance,2,76.37,G,0.0187,2.9346,-6.2326,gain_of_function,-1.87680011102564,0.7416160080092021,,,0.086,benign,0.030892672,neutral,0.100485952,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689L,NP_000240:p.Gln689Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4502,0.5983,-0.2415388768680881,Neutral,Neutral,False,0.053,-0.0521,,,0.05737,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,2991402,Uncertain significance,1,76.37,G,0.0472,2.9346,-3.4253,gain_of_function,-1.05136007400624,0.8435173811876506,,,0.133,benign,0.152662029,stabilizing,-0.119106915,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689M,NP_000240:p.Gln689Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.81355,0.93639,0.1572304442501854,Neutral,Neutral,False,0.053,0.14774,,,-0.26774,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,76.37,G,0.0581,2.9346,-6.9696,gain_of_function,-2.64966271792557,0.6462053695747506,,,0.2824,benign,0.082961608,neutral,-0.042142025,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689N,NP_000240:p.Gln689Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02421,0.72143,0.4752431746651903,Neutral,Neutral,False,0.053,0.00514,,,-0.02643,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,0.0375,2.9346,-5.9696,gain_of_function,-0.69792213167463,0.8871496379739904,,,0.1804,benign,-0.02068777,neutral,0.080310871,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689P,NP_000240:p.Gln689Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05764,4.74116,2.356077500387,Uncertain,Uncertain,False,0.053,0.05538,,,0.05523,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,-0.106,2.9346,-3.1283,loss_of_function,-0.873039049051159,0.865531284674966,,,0.0965,benign,0.056805714,neutral,-0.233400041,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689R,NP_000240:p.Gln689Arg,"hg19,3:g.37090471A>G, hg38,3:g.37048980A>G",0.000159205247405,0.0002627702352988,0.441,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13853,1.0966,0.1685858423273517,Neutral,Neutral,False,0.053,-0.24724,,,-0.19007,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,90016,Benign,3,76.37,G,0.0236,2.9346,-5.5546,gain_of_function,-0.921305585972868,0.8595727338774417,,,0.0994,benign,-0.045197304,neutral,-0.007902244,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689S,NP_000240:p.Gln689Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01231,1.18435,0.8011601839516505,Neutral,Neutral,False,0.053,0.12116,,,-0.05388,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,0.0456,2.9346,-3.8542,gain_of_function,-0.940160059087508,0.8572451308841637,,,0.1795,benign,0.077079418,neutral,0.021084463,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689T,NP_000240:p.Gln689Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18426,0.90408,0.4464358873352619,Neutral,Neutral,False,0.053,0.21932,,,0.02424,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,76.37,G,0.0305,2.9346,-4.8541,gain_of_function,-1.51493107667739,0.7862890912824564,,,0.1328,benign,-0.016072988,neutral,0.162619097,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689V,NP_000240:p.Gln689Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18493,0.28605,-0.093729553750832,Neutral,Neutral,False,0.053,0.222,,,-0.09032,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,76.37,G,0.0145,2.9346,-6.5546,gain_of_function,-1.83897902306026,0.7462850580018482,,,0.1988,benign,0.014970938,neutral,-0.151424291,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689W,NP_000240:p.Gln689Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16138,1.26973,-0.0161466926565018,Neutral,Neutral,False,0.053,0.04632,,,-0.12223,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,76.37,G,-0.0815,2.9346,-21.8423,loss_of_function,-2.70403025347864,0.6394936445787218,,,0.4043,ambiguous,0.107800939,neutral,-0.473273587,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q689Y,NP_000240:p.Gln689Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26861,0.84762,0.3313834377423824,Neutral,Neutral,False,0.053,-0.14768,,,0.11629,,,Uncertain,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,76.37,G,-0.0165,2.9346,-8.5545,loss_of_function,-1.91706365135796,0.7366454349028811,,,0.3302,benign,0.123164281,stabilizing,-0.235922955,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690A,NP_000240:p.Tyr690Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53724,2.47211,2.369274190575646,Uncertain,Uncertain,False,0.056,0.40952,,,-0.01,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.0917,3.0032,-5.7738,loss_of_function,-1.66170243291312,0.7681700249991079,,,0.5662,pathogenic,0.076051914,neutral,-0.585025667,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690C,NP_000240:p.Tyr690Cys,"hg19,3:g.37090474A>G, hg38,3:g.37048983A>G",,,0.674,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28662,2.78741,2.5844223535949067,Uncertain,Uncertain,False,0.056,0.35228,,,0.29053,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,1015796,Uncertain significance,2,75.02,G,-0.0686,3.0032,-6.9962,loss_of_function,-2.09078277807624,0.7151996402163586,,,0.1675,benign,0.038026348,neutral,-0.327710775,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690D,NP_000240:p.Tyr690Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.13972,2.88776,2.4169030325852314,Uncertain,Uncertain,False,0.056,0.34876,,,0.12128,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,2184268,Uncertain significance,1,75.02,G,-0.1026,3.0032,-5.1218,loss_of_function,-1.53480028274241,0.7838362185222472,,,0.3699,ambiguous,0.003941038,neutral,-0.746740226,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690E,NP_000240:p.Tyr690Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43961,2.63878,2.289795695516732,Uncertain,Uncertain,False,0.056,0.4492,,,0.1336,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1387,3.0032,-6.5812,loss_of_function,-1.54344413361233,0.7827691267485367,,,0.7005,pathogenic,0.041346194,neutral,-0.728359145,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690F,NP_000240:p.Tyr690Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19353,0.0983,0.2696123831521735,Neutral,Neutral,False,0.056,0.2126,,,0.05379,,,,Neutral,,14.5,,True,14.5,,uncertain,,,-,-,uncertain,neutral,,,,75.02,G,0.0804,3.0032,-3.8808,gain_of_function,-0.436014053392944,0.9194824442669872,,,0.1157,benign,-0.043692174,neutral,-0.030876318,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690G,NP_000240:p.Tyr690Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.40096,3.49048,3.48548523779014,Uncertain,Uncertain,False,0.056,0.39304,,,0.20733,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1613,3.0032,-5.5812,loss_of_function,-2.29093099938367,0.6904911481687748,,,0.4508,ambiguous,0.093777055,neutral,-0.807071301,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690H,NP_000240:p.Tyr690His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.65749,0.76701,1.4318242824094152,Neutral,Neutral,False,0.056,0.21116,,,0.10128,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,2452056,Uncertain significance,2,75.02,G,-0.0005,3.0032,-5.9962,loss_of_function,-0.898631226381187,0.8623719055612838,,,0.2941,benign,-0.00779912,neutral,-0.193295399,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690I,NP_000240:p.Tyr690Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62787,1.82007,1.5346956335829731,Neutral,Neutral,False,0.056,0.29326,,,0.26928,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1028,3.0032,-5.5812,loss_of_function,-1.24223171376342,0.8199540921299602,,,0.5162,ambiguous,-0.005833546,neutral,-0.712384151,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690K,NP_000240:p.Tyr690Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8228,1.62823,2.4084085590458284,Neutral,Uncertain,False,0.056,0.32292,,,-0.04202,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1742,3.0032,-8.5811,loss_of_function,-2.02970041754189,0.7227403168691499,,,0.755,pathogenic,-0.016491805,neutral,-0.790557303,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690L,NP_000240:p.Tyr690Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08478,0.44184,0.9305216881015572,Neutral,Neutral,False,0.056,0.12564,,,0.0705,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.068,3.0032,-3.2593,loss_of_function,-1.24733521364134,0.8193240601200592,,,0.5,ambiguous,0.062845658,neutral,-0.180682175,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690M,NP_000240:p.Tyr690Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08936,1.69558,1.4218171246657665,Neutral,Neutral,False,0.056,0.18732,,,0.02323,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.0371,3.0032,-6.5812,loss_of_function,-1.93835409327096,0.7340171091987576,,,0.617,pathogenic,0.044892505,neutral,-0.25135604,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690N,NP_000240:p.Tyr690Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08765,2.22313,2.1031434117667605,Uncertain,Uncertain,False,0.056,0.33042,,,0.13997,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.0823,3.0032,-5.2593,loss_of_function,-1.91487616536258,0.7369154821706908,,,0.2392,benign,0.015048198,neutral,-0.624457098,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690P,NP_000240:p.Tyr690Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.65434,7.62551,3.864319947355069,Uncertain,Uncertain,False,0.056,0.55128,,,0.19971,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.2014,3.0032,-2.9373,loss_of_function,-1.32596325499912,0.8096173521517597,,,0.7991,pathogenic,-0.000186389,neutral,-0.642084582,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690Q,NP_000240:p.Tyr690Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.93547,1.60646,2.131730654990472,Neutral,Uncertain,False,0.056,0.16224,,,-0.10612,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1084,3.0032,-5.5812,loss_of_function,-1.25005761932939,0.8189879764973617,,,0.6502,pathogenic,0.018315373,neutral,-0.745570643,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690R,NP_000240:p.Tyr690Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.97033,1.68333,1.8244649776309343,Neutral,Neutral,False,0.056,0.00518,,,-0.57674,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1615,3.0032,-6.9962,loss_of_function,-2.28945266990687,0.6906736493765427,,,0.6386,pathogenic,0.048155361,neutral,-0.76191662,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690S,NP_000240:p.Tyr690Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.90265,2.67823,2.8360768018677582,Uncertain,Uncertain,False,0.056,0.48874,,,0.22237,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,1515841,Uncertain significance,1,75.02,G,-0.0976,3.0032,-5.9962,loss_of_function,-2.02277406373837,0.7235953819641833,,,0.353,ambiguous,0.015427577,neutral,-0.818211374,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690T,NP_000240:p.Tyr690Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18398,2.02823,2.233097939852332,Uncertain,Uncertain,False,0.056,0.35346,,,0.07481,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.1117,3.0032,-5.1218,loss_of_function,-2.06505266896708,0.718376047141957,,,0.5493,ambiguous,0.042471399,neutral,-0.585581975,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y690V,NP_000240:p.Tyr690Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42214,1.32109,1.7709734199228155,Neutral,Neutral,False,0.056,0.13012,,,0.00113,,,,Neutral,,14.5,,True,14.5,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,75.02,G,-0.0914,3.0032,-5.4113,loss_of_function,-1.24922438590822,0.8190908399713724,,,0.4028,ambiguous,0.006982447,neutral,-0.500489394,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y690W,NP_000240:p.Tyr690Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.87538,-1.24014,0.383848842236309,Neutral,Neutral,False,0.056,0.22536,,,-0.44407,,,,Neutral,,14.5,,True,14.5,,uncertain,,,UP,-,neutral,neutral,,,,75.02,G,-0.0236,3.0032,-8.5811,loss_of_function,-2.30225977370119,0.6890925999913051,,,0.4739,ambiguous,0.01287923,neutral,-0.080623428,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691A,NP_000240:p.Ile691Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.6484,3.36497,3.963065179425541,Destabilizing,Destabilizing,False,0.046,-0.00114,,,-0.16263,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.0358,3.2654,-4.5887,loss_of_function,-0.493353922222932,0.9124037818450063,,,0.1767,benign,0.063311704,neutral,-0.408273674,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691C,NP_000240:p.Ile691Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05277,2.66293,3.549847332686434,Uncertain,Destabilizing,False,0.046,0.0005,,,-0.01895,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.0243,3.2654,-6.2668,loss_of_function,-0.519108725672143,0.9092243263791769,,,0.363,ambiguous,-0.056349422,neutral,-0.049481081,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691D,NP_000240:p.Ile691Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.11358,4.43367,5.123270350597595,Destabilizing,Destabilizing,False,0.046,0.09404,,,-0.03717,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.1603,3.2654,-4.6818,loss_of_function,-0.590142763407704,0.9004551055235943,,,0.371,ambiguous,0.010916173,neutral,-0.729573497,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691E,NP_000240:p.Ile691Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.92777,3.37959,4.712702870463897,Destabilizing,Destabilizing,False,0.046,0.07364,,,-0.00502,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.1493,3.2654,-6.2668,loss_of_function,-0.689824575768769,0.8881492891045268,,,0.3369,benign,0.067422738,neutral,-0.630600769,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691F,NP_000240:p.Ile691Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83567,4.31259,2.106907188670987,Uncertain,Uncertain,False,0.046,-0.0633,,,0.01666,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,73.05,-,-0.0002,3.2654,-5.2668,loss_of_function,-0.664144892383325,0.8913194709256239,,,0.0874,benign,0.00536146,neutral,-0.021642758,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691G,NP_000240:p.Ile691Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.07495,5.05136,5.886066407067124,Destabilizing,Destabilizing,False,0.046,-0.12296,,,-0.11291,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.135,3.2654,-6.2668,loss_of_function,-1.07130713176026,0.8410548975609244,,,0.3283,benign,-0.002450112,neutral,-0.716990215,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691H,NP_000240:p.Ile691His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.23066,4.01463,3.408824345823155,Destabilizing,Destabilizing,False,0.046,-0.00118,,,-0.13657,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.1366,3.2654,-6.5887,loss_of_function,-0.669557243967963,0.890651310872968,,,0.2562,benign,0.018952177,neutral,-0.516177036,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691K,NP_000240:p.Ile691Lys,"hg19,3:g.37090477T>A, hg38,3:g.37048986T>A",,7.9638124363e-06,0.454,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.87788,6.04592,5.11040360809595,Destabilizing,Destabilizing,False,0.046,-0.30686,,,-0.06819,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,630511,Uncertain significance,2,73.05,-,-0.1485,3.2654,-7.5886,loss_of_function,-0.600385005961633,0.8991906907461856,,,0.2385,benign,-0.07658259,neutral,-0.805980571,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691L,NP_000240:p.Ile691Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35338,0.68027,1.0621695949327905,Neutral,Neutral,False,0.046,0.03996,,,-0.00273,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,854812,Uncertain significance,2,73.05,-,0.0865,3.2654,-3.1293,gain_of_function,-0.110760649716023,0.9596352924197399,,,0.0814,benign,0.051895425,neutral,-0.076846139,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691M,NP_000240:p.Ile691Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04883,2.84626,1.8474160088078189,Uncertain,Neutral,False,0.046,-0.00364,,,-0.08391,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,73.05,-,0.0706,3.2654,-5.1293,gain_of_function,-0.0462833139037127,0.9675950820634399,,,0.0923,benign,0.026541772,neutral,0.005606829,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691N,NP_000240:p.Ile691Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.6217,3.38776,3.6228602464205433,Uncertain,Uncertain,False,0.046,0.05094,,,0.11919,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.0801,3.2654,-6.0037,loss_of_function,-0.576805877933456,0.9021015569710635,,,0.1494,benign,0.017377134,neutral,-0.476199746,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691P,NP_000240:p.Ile691Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.04454,11.16939,6.702580517493703,Destabilizing,Destabilizing,False,0.046,0.61818,,,0.83526,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.1745,3.2654,-3.5443,loss_of_function,-0.705040564625701,0.886270860521891,,,0.4328,ambiguous,0.042788892,neutral,-0.775496873,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691Q,NP_000240:p.Ile691Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.50741,2.7102,3.5872442226147703,Uncertain,Destabilizing,False,0.046,0.01366,,,-0.12546,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.1158,3.2654,-7.5886,loss_of_function,-1.21388019912303,0.8234541141109352,,,0.2536,benign,0.065438004,neutral,-0.527993523,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691R,NP_000240:p.Ile691Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.37779,3.82823,4.323854445025684,Destabilizing,Destabilizing,False,0.046,-0.249,,,-0.04834,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,73.05,-,-0.1724,3.2654,-7.0037,loss_of_function,-0.716791661004383,0.8848201762763535,,,0.163,benign,-0.016366041,neutral,-0.722029516,damaging,https://doi.org/10.1101/2022.10.22.513328 +I691S,NP_000240:p.Ile691Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.50924,3.64116,4.668890403903161,Destabilizing,Destabilizing,False,0.046,-0.02252,,,-0.157,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,73.05,-,-0.0806,3.2654,-5.4188,loss_of_function,-0.664049806684266,0.891331209347398,,,0.1514,benign,0.031359106,neutral,-0.413715714,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691T,NP_000240:p.Ile691Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.98575,2.50952,3.2879999005139475,Uncertain,Uncertain,False,0.046,-0.00696,,,-0.03873,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,230847,Uncertain significance,2,73.05,-,0.0104,3.2654,-3.8883,gain_of_function,-0.358648995374458,0.9290332357170618,,,0.1268,benign,0.106630274,neutral,-0.237876073,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691V,NP_000240:p.Ile691Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44878,0.53639,1.1983332633114596,Neutral,Neutral,False,0.046,-0.01138,,,0.05778,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,182530,Conflicting classifications of pathogenicity,1,73.05,-,0.1289,3.2654,-2.6345,gain_of_function,-0.0038147513704299,0.9728378672991584,,,0.0604,benign,0.011003342,neutral,0.112911081,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691W,NP_000240:p.Ile691Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.98087,7.1932,3.593699191869616,Destabilizing,Destabilizing,False,0.046,-0.05322,,,0.01861,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,73.05,-,-0.1739,3.2654,-21.8764,loss_of_function,-1.35708391360717,0.8057754766621372,,,0.5156,ambiguous,0.037392705,neutral,-0.482046308,neutral,https://doi.org/10.1101/2022.10.22.513328 +I691Y,NP_000240:p.Ile691Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.45051,4.72585,3.2886995967750354,Destabilizing,Destabilizing,False,0.046,-0.02222,,,0.0482,,,,Neutral,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,73.05,-,-0.1047,3.2654,-6.5887,loss_of_function,-1.07461879239974,0.8406460698429444,,,0.284,benign,0.034655661,neutral,-0.153579537,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692A,NP_000240:p.Ser692Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69974,0.56871,0.4141442065431328,Neutral,Neutral,False,0.03,0.5947,,,0.37494,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,-,-,uncertain,neutral,,,,63.05,-,0.1303,3.4442,-3.8376,gain_of_function,-0.21799829808492,0.9463967007169711,,,0.0616,benign,-0.057916985,neutral,-0.03078351,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692C,NP_000240:p.Ser692Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21071,0.97721,0.9032267305402508,Neutral,Neutral,False,0.03,0.74524,,,0.43702,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0637,3.4442,-7.0075,gain_of_function,-0.0495308837929502,0.9671941664107401,,,0.0766,benign,0.002798642,neutral,0.068340434,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692D,NP_000240:p.Ser692Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90062,-0.05714,0.087729000227737,Neutral,Neutral,False,0.03,1.51444,,,0.89353,,,Uncertain,Uncertain,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0282,3.4442,-4.505,gain_of_function,-0.869593324397534,0.8659566627255233,,,0.1693,benign,0.040122007,neutral,0.140765024,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692E,NP_000240:p.Ser692Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25843,0.40884,0.0860226639355288,Neutral,Neutral,False,0.03,0.75034,,,0.28119,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0504,3.4442,-5.4225,gain_of_function,-0.91078089188244,0.8608720175709859,,,0.2025,benign,-0.062064469,neutral,0.048041573,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692F,NP_000240:p.Ser692Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0901,0.4102,0.0093865991471514,Neutral,Neutral,False,0.03,-0.28314,,,-0.0585,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0331,3.4442,-7.5924,gain_of_function,-1.40462257598541,0.799906782682982,,,0.104,benign,0.150044229,stabilizing,-0.008082392,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692G,NP_000240:p.Ser692Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54888,0.85782,0.6959389153694245,Neutral,Neutral,False,0.03,1.0137,,,0.50172,,,Uncertain,Uncertain,Uncertain,94.3,,True,94.3,,uncertain,,,DOWN,-,destabilizing,neutral,,,,63.05,-,0.1173,3.4442,-4.5925,gain_of_function,-1.2012734087087,0.8250104346151257,,,0.076,benign,0.059441283,neutral,0.012712654,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692H,NP_000240:p.Ser692His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.22964,0.0449,-0.112494459134157,Neutral,Neutral,False,0.03,-0.27772,,,-0.50988,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0349,3.4442,-7.0075,gain_of_function,-0.99743979582142,0.8501738918277663,,,0.1643,benign,-0.015407752,neutral,-0.086222171,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692I,NP_000240:p.Ser692Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62097,0.82755,0.2725492986582001,Neutral,Neutral,False,0.03,0.13628,,,0.52984,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0483,3.4442,-4.0075,gain_of_function,-0.107810183241812,0.9599995303676891,,,0.0902,benign,0.017579949,neutral,-0.125820754,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692K,NP_000240:p.Ser692Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96557,0.46361,0.1158233175207823,Neutral,Neutral,False,0.03,0.82628,,,0.4613,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0344,3.4442,-5.2705,gain_of_function,-1.3645894070384,0.8048489162183454,,,0.2602,benign,0.005632564,neutral,0.103615052,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692L,NP_000240:p.Ser692Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03105,0.33401,0.022188419789168,Neutral,Neutral,False,0.03,-0.51768,,,-0.02002,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0601,3.4442,-2.4225,gain_of_function,-0.0102628719842425,0.972041840555241,,,0.0639,benign,0.03622923,neutral,-0.106533488,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692M,NP_000240:p.Ser692Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07468,0.89694,0.2906654601403885,Neutral,Neutral,False,0.03,-0.54504,,,-0.01211,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0737,3.4442,-5.4225,gain_of_function,-0.107161117541709,0.9600796581579067,,,0.1271,benign,0.029536696,neutral,-0.097443879,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692N,NP_000240:p.Ser692Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02803,0.28231,0.1840350392957251,Neutral,Neutral,False,0.03,0.42116,,,-0.10496,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.1037,3.4442,-4.6856,gain_of_function,-0.831949890105089,0.8706037811999361,,,0.0982,benign,0.046706311,neutral,0.038420133,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692P,NP_000240:p.Ser692Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11618,0.86905,1.5777914674143867,Neutral,Neutral,False,0.03,0.1075,,,0.52747,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,127621,Benign,3,63.05,-,-0.0194,3.4442,-3.1006,loss_of_function,-0.75655543773048,0.8799112994719499,,,0.075,benign,0.030137495,neutral,0.060707551,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692Q,NP_000240:p.Ser692Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16697,0.39864,0.4033893151870704,Neutral,Neutral,False,0.03,0.9899,,,-0.06418,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0785,3.4442,-5.7851,gain_of_function,-0.663298017583339,0.8914240184410805,,,0.2274,benign,-0.047526946,neutral,0.214946144,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692R,NP_000240:p.Ser692Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1155,0.50476,0.0114778999502374,Neutral,Neutral,False,0.03,0.63452,,,-0.08658,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0203,3.4442,-7.0075,gain_of_function,-1.63486164832667,0.7714835458896412,,,0.2168,benign,-0.016851293,neutral,0.079127629,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692T,NP_000240:p.Ser692Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79029,-0.12551,0.2850949328271213,Neutral,Neutral,False,0.03,0.11564,,,0.31978,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,neutral,,,UP,-,neutral,neutral,,,,63.05,-,0.1358,3.4442,-4.5925,gain_of_function,-0.0609363937987387,0.9657861451381263,,,0.0638,benign,-0.007176688,neutral,0.124848355,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692V,NP_000240:p.Ser692Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.72341,0.68333,0.3708428953715087,Neutral,Neutral,False,0.03,0.80998,,,0.5679,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,0.0689,3.4442,-5.0075,gain_of_function,-0.106287399591795,0.9601875194862576,,,0.0948,benign,0.126209905,stabilizing,-0.09544144,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692W,NP_000240:p.Ser692Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.27757,0.73741,-0.1670602846044799,Neutral,Neutral,False,0.03,0.32716,,,-0.57038,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,-0.0495,3.4442,-21.8802,loss_of_function,-2.00483475250017,0.7258100073361838,,,0.1408,benign,0.01775951,neutral,-0.12282464,neutral,https://doi.org/10.1101/2022.10.22.513328 +S692Y,NP_000240:p.Ser692Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10627,0.17789,0.019562042045626,Neutral,Neutral,False,0.03,0.5996,,,-0.20819,,,Uncertain,Neutral,Uncertain,94.3,,True,94.3,,uncertain,,,UP,-,neutral,neutral,,,,63.05,-,-0.0446,3.4442,-21.8802,loss_of_function,-2.00483475250017,0.7258100073361838,,,0.0935,benign,0.049513942,neutral,0.005795929,neutral,https://doi.org/10.1101/2022.10.22.513328 +E693A,NP_000240:p.Glu693Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54288,0.57381,0.4258021080450153,Neutral,Neutral,False,0.014,-0.60192,,,0.071,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,0.0034,2.5718,-5.118,gain_of_function,-0.421032364737109,0.921331948262546,,,0.1078,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693C,NP_000240:p.Glu693Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90204,1.63503,1.2377699864755012,Neutral,Neutral,False,0.014,-0.59436,,,0.00159,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.1515,2.5718,-21.8651,loss_of_function,-2.09003930430487,0.715291422774542,,,0.5318,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693D,NP_000240:p.Glu693Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6376,0.32755,0.0595584820006067,Neutral,Neutral,False,0.014,0.03474,,,-0.11711,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"2709090, 1785512","Uncertain significance, Uncertain significance","2, 1",58.81,T,0.05,2.5718,-2.6948,gain_of_function,-0.164203901332293,0.953037671172188,,,0.0813,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693F,NP_000240:p.Glu693Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.67309,1.05374,0.360409077561622,Neutral,Neutral,False,0.014,-0.01364,,,0.04618,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0562,2.5718,-7.5774,loss_of_function,-1.58191534934371,0.7780198178526081,,,0.4678,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693G,NP_000240:p.Glu693Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70397,1.21395,0.9124222607092064,Neutral,Neutral,False,0.014,-0.59252,,,0.06677,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.0257,2.5718,-5.7701,loss_of_function,-0.770109144400633,0.8782380812375477,,,0.0766,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693H,NP_000240:p.Glu693His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05783,0.45714,0.050329443877598,Neutral,Neutral,False,0.014,-0.98866,,,-0.0871,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0424,2.5718,-6.5774,loss_of_function,-0.821195950965145,0.8719313654171915,,,0.2242,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693I,NP_000240:p.Glu693Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81024,0.73197,0.2696955606346779,Neutral,Neutral,False,0.014,-0.566,,,0.01311,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0666,2.5718,-8.5773,loss_of_function,-2.20402786879061,0.70121942392932,,,0.2324,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693K,NP_000240:p.Glu693Lys,"hg19,3:g.37090482G>A",,,0.392,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66295,0.52755,0.2827117202763185,Neutral,Neutral,False,0.014,-0.82438,,,0.19035,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.018,2.5718,-4.9925,loss_of_function,-1.33276711162186,0.8087774094525056,,,0.0802,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693L,NP_000240:p.Glu693Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61508,0.29456,0.0275831123154879,Neutral,Neutral,False,0.014,-0.40412,,,-0.12579,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0556,2.5718,-5.9924,loss_of_function,-1.15130645830061,0.8311789031068039,,,0.229,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693M,NP_000240:p.Glu693Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46882,0.42177,0.3567433261800545,Neutral,Neutral,False,0.014,-0.64338,,,0.18923,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0854,2.5718,-21.8651,loss_of_function,-2.20402786879061,0.70121942392932,,,0.2852,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693N,NP_000240:p.Glu693Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86608,0.57211,0.3337744553950783,Neutral,Neutral,False,0.014,-0.54854,,,0.09304,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.0235,2.5718,-5.2555,loss_of_function,-0.264947293906715,0.9406008016461368,,,0.1411,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693P,NP_000240:p.Glu693Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27383,0.14422,0.944728775204404,Neutral,Neutral,False,0.014,-0.71456,,,0.24657,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.1447,2.5718,-3.368,loss_of_function,-1.35292523648194,0.8062888693868189,,,0.2189,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693Q,NP_000240:p.Glu693Gln,"hg19,3:g.37090482G>C",,,0.342,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3429,0.51633,0.4067570463220404,Neutral,Neutral,False,0.014,-0.60876,,,0.16209,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,0.0264,2.5718,-5.9924,gain_of_function,-0.584557591233989,0.9011446004455934,,,0.102,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693R,NP_000240:p.Glu693Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66703,0.98673,0.234311183127106,Neutral,Neutral,False,0.014,-1.2132,,,-0.445,,,Uncertain,Uncertain,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0836,2.5718,-5.9924,loss_of_function,-1.65045408571883,0.7695586443702074,,,0.1314,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693S,NP_000240:p.Glu693Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.76757,0.74762,0.3793061226707622,Neutral,Neutral,False,0.014,-0.57848,,,0.0393,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.0083,2.5718,-4.7701,loss_of_function,-1.34088622543483,0.8077750969774272,,,0.1138,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693T,NP_000240:p.Glu693Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79882,0.74354,0.4281140059322191,Neutral,Neutral,False,0.014,-0.58016,,,0.09849,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,58.81,T,-0.0304,2.5718,-5.9924,loss_of_function,-0.923778141035041,0.859267494556843,,,0.1276,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693V,NP_000240:p.Glu693Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86362,0.91088,0.4384851192657801,Neutral,Neutral,False,0.014,-0.567,,,0.04215,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,58.81,T,-0.0157,2.5718,-6.2555,loss_of_function,-1.08123472821987,0.83982932614904,,,0.1457,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693W,NP_000240:p.Glu693Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.45385,0.09796,-0.1325223596726138,Neutral,Neutral,False,0.014,-0.37952,,,0.28527,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.1392,2.5718,-21.8651,loss_of_function,-2.28966569230613,0.69064735155474,,,0.5845,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E693Y,NP_000240:p.Glu693Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41482,0.45204,0.3800007883177986,Neutral,Neutral,False,0.014,-0.58322,,,-0.02218,,,Uncertain,Neutral,Uncertain,107.5,,True,107.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,58.81,T,-0.0621,2.5718,-8.5773,loss_of_function,-1.6421673994726,0.7705816438247032,,,0.3382,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694A,NP_000240:p.Glu694Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10345,0.51701,0.4877120305701182,Neutral,Neutral,False,0.011,-0.43088,,,-0.07963,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,3072276,Uncertain significance,1,55.31,T,0.0401,2.8755,-3.3999,gain_of_function,-0.511837818401166,0.9101219269339563,,,0.0933,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694C,NP_000240:p.Glu694Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08784,0.92653,1.0412643345917043,Neutral,Neutral,False,0.011,-0.5542,,,-0.04636,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,-0.0557,2.8755,-8.5697,loss_of_function,-1.99661672087298,0.7268245313113697,,,0.5195,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694D,NP_000240:p.Glu694Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08623,0.02007,0.1591120250246996,Neutral,Neutral,False,0.011,0.07254,,,0.01676,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,0.0776,2.8755,-2.7625,gain_of_function,-0.109332493598354,0.9598115996776592,,,0.0646,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694F,NP_000240:p.Glu694Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03611,-0.15306,-0.0253283699766732,Neutral,Neutral,False,0.011,-0.50124,,,-0.2307,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.0282,2.8755,-7.5698,loss_of_function,-2.52233873692638,0.6619236385228064,,,0.4113,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694G,NP_000240:p.Glu694Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01003,0.63401,0.9493390717917728,Neutral,Neutral,False,0.011,-0.38294,,,-0.0277,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,0.0041,2.8755,-5.3999,gain_of_function,-0.689938454013069,0.8881352307248157,,,0.0739,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694H,NP_000240:p.Glu694His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21437,-0.22517,-0.0682357941646089,Neutral,Neutral,False,0.011,-0.95156,,,-0.17609,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.0195,2.8755,-7.5698,loss_of_function,-2.52233873692638,0.6619236385228064,,,0.2347,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694I,NP_000240:p.Glu694Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17493,0.24966,0.3221017970421136,Neutral,Neutral,False,0.011,-0.57102,,,0.20222,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.0335,2.8755,-7.5698,loss_of_function,-1.82707579530939,0.7477545230128372,,,0.1716,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694K,NP_000240:p.Glu694Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13392,0.03469,0.2447231884113077,Neutral,Neutral,False,0.011,-0.61082,,,-0.12124,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,0.0019,2.8755,-6.5698,gain_of_function,-1.68897537518061,0.7648031538236933,,,0.0931,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694L,NP_000240:p.Glu694Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0141,-0.10238,0.0328628528145197,Neutral,Neutral,False,0.011,-0.41416,,,-0.09814,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.0276,2.8755,-5.9849,loss_of_function,-0.780420831873172,0.8769650934175807,,,0.2194,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694M,NP_000240:p.Glu694Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05546,0.55136,0.2817883869644416,Neutral,Neutral,False,0.011,-0.49898,,,-0.05332,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,0.0155,2.8755,-7.5698,gain_of_function,-1.55351310588532,0.7815261023553678,,,0.2623,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694N,NP_000240:p.Glu694Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0202,-0.22109,0.272288423332564,Neutral,Neutral,False,0.011,-0.34818,,,-0.13301,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,0.0018,2.8755,-5.7625,gain_of_function,-0.369021833042997,0.927752698846088,,,0.1139,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694P,NP_000240:p.Glu694Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18399,3.60952,1.8533928307699248,Uncertain,Neutral,False,0.011,-0.5414,,,0.18028,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,-0.1185,2.8755,-3.7119,loss_of_function,-0.707431340906277,0.885975716871199,,,0.2216,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694Q,NP_000240:p.Glu694Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14065,0.16429,0.4695110474743985,Neutral,Neutral,False,0.011,-0.51028,,,-0.12882,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,0.0581,2.8755,-5.2479,gain_of_function,-1.05321944753535,0.8432878397220439,,,0.1104,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694R,NP_000240:p.Glu694Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05143,0.41939,0.1358370737490077,Neutral,Neutral,False,0.011,-0.9522,,,-0.57806,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.0586,2.8755,-6.5698,loss_of_function,-1.6282344302834,0.7723016823849349,,,0.1649,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694S,NP_000240:p.Glu694Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07891,0.14966,0.3360048572589713,Neutral,Neutral,False,0.011,-0.65852,,,-0.01831,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,455415,Uncertain significance,2,55.31,T,0.023,2.8755,-4.1104,gain_of_function,-0.808159471581048,0.8735407314414626,,,0.1074,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694T,NP_000240:p.Glu694Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1603,0.02483,0.3439589927812425,Neutral,Neutral,False,0.011,-0.66078,,,-0.0843,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.31,T,0.0032,2.8755,-4.8694,gain_of_function,-0.546486791591413,0.9058444775869889,,,0.1149,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694V,NP_000240:p.Glu694Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28772,0.15,0.3278367137626292,Neutral,Neutral,False,0.011,-0.49214,,,-0.07263,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,55.31,T,0.0137,2.8755,-5.9849,gain_of_function,-0.756775052534969,0.8798841878113275,,,0.113,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694W,NP_000240:p.Glu694Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00532,0.60816,-0.3179470188408728,Neutral,Neutral,False,0.011,-0.41768,,,-0.19936,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.1112,2.8755,-21.8576,loss_of_function,-2.52233873692638,0.6619236385228064,,,0.6243,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +E694Y,NP_000240:p.Glu694Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02489,-0.23946,0.0324265672508888,Neutral,Neutral,False,0.011,-0.40368,,,-0.23355,,,Uncertain,Neutral,Uncertain,108.8,,False,108.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.31,T,-0.026,2.8755,-6.9849,loss_of_function,-1.89816341676761,0.7389786871947205,,,0.2702,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695A,NP_000240:p.Ser695Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39565,0.2432,-0.2860215087643408,Neutral,Neutral,False,0.02,0.00518,,,0.01601,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,-,-,uncertain,neutral,,,,58.74,-,0.1028,3.1193,-3.3847,gain_of_function,-0.138752296625788,0.9561796964591526,,,0.0632,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695C,NP_000240:p.Ser695Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56027,0.3966,0.320807631828533,Neutral,Neutral,False,0.02,-0.01162,,,0.03387,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.031,3.1193,-7.5545,gain_of_function,-1.45905713158313,0.7931867839974375,,,0.08,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695D,NP_000240:p.Ser695Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56373,-0.06735,1.07492675767497,Neutral,Neutral,False,0.02,0.036,,,-0.08835,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0022,3.1193,-3.7472,gain_of_function,-0.399620960211454,0.9239752069185255,,,0.1269,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695E,NP_000240:p.Ser695Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05897,0.97551,0.5402560668567713,Neutral,Neutral,False,0.02,0.02586,,,0.14085,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0334,3.1193,-2.8822,gain_of_function,-0.33260635517308,0.9322482249091237,,,0.1648,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695F,NP_000240:p.Ser695Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.63503,-0.84762,-0.9665446314912264,Neutral,Neutral,False,0.02,0.02148,,,-0.00625,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,-0.0695,3.1193,-21.8423,loss_of_function,-2.23352000367687,0.6975785912726855,,,0.1078,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695G,NP_000240:p.Ser695Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39037,1.64014,1.1409659947226058,Neutral,Neutral,False,0.02,0.03472,,,0.01896,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,58.74,-,0.0889,3.1193,-4.3067,gain_of_function,-0.753835974769631,0.8802470198121203,,,0.0709,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695H,NP_000240:p.Ser695His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44616,0.14898,-0.4965761525206563,Neutral,Neutral,False,0.02,0.13752,,,0.46174,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0052,3.1193,-6.9696,gain_of_function,-2.23352000367687,0.6975785912726855,,,0.1573,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695I,NP_000240:p.Ser695Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2813,0.15918,-0.8162445860905065,Neutral,Neutral,False,0.02,-0.08256,,,0.09475,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0054,3.1193,-6.5546,gain_of_function,-1.1266557180977,0.8342220608940274,,,0.0948,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695K,NP_000240:p.Ser695Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10784,0.8398,0.0792612090564975,Neutral,Neutral,False,0.02,-0.01118,,,-0.02761,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0031,3.1193,-5.5546,gain_of_function,-0.839139039027047,0.8697162737926419,,,0.2404,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695L,NP_000240:p.Ser695Leu,"hg19,3:g.37090489C>T, hg38,3:g.37048998C>T",,0.0,0.517,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08377,-0.27687,-0.9520843170768832,Neutral,Neutral,False,0.02,-0.06116,,,0.14884,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,483566,Uncertain significance,2,58.74,-,0.0121,3.1193,-5.9696,gain_of_function,-1.15048828793276,0.8312799070322724,,,0.0754,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695M,NP_000240:p.Ser695Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12694,-0.03537,-0.5598839731858701,Neutral,Neutral,False,0.02,-0.0511,,,0.02436,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,-0.0399,3.1193,-21.8423,loss_of_function,-1.88181956817606,0.7409963511555254,,,0.1245,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695N,NP_000240:p.Ser695Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.7311,0.86293,0.1045741546469358,Neutral,Neutral,False,0.02,0.08322,,,-0.0103,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.071,3.1193,-5.2327,gain_of_function,-0.596562672200983,0.8996625615562848,,,0.0714,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695P,NP_000240:p.Ser695Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.36989,4.88027,3.3128940945551992,Destabilizing,Destabilizing,False,0.02,0.12326,,,0.08019,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,-0.0531,3.1193,-3.8542,loss_of_function,-0.665104051833506,0.891201061761194,,,0.072,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695Q,NP_000240:p.Ser695Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4667,0.13367,-0.0283282995025818,Neutral,Neutral,False,0.02,0.07148,,,-0.07765,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0521,3.1193,-5.0952,gain_of_function,-0.372794610074971,0.9272869458622099,,,0.2187,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695R,NP_000240:p.Ser695Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55709,0.76054,-0.3140760425992472,Neutral,Neutral,False,0.02,-0.16822,,,0.34868,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,-0.0057,3.1193,-6.2326,loss_of_function,-0.611914780583163,0.8977673288862322,,,0.218,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695T,NP_000240:p.Ser695Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.0814,-0.79966,-0.1022965740033648,Neutral,Neutral,False,0.02,-0.01956,,,-0.16122,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,neutral,,,UP,-,neutral,neutral,,,,58.74,-,0.1091,3.1193,-3.9696,gain_of_function,-0.0368769014135753,0.9687563128087877,,,0.0613,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695V,NP_000240:p.Ser695Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.68375,0.36871,-0.7782842236174053,Neutral,Neutral,False,0.02,0.06086,,,-0.02429,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,0.0352,3.1193,-5.7472,gain_of_function,-0.720080020115933,0.8844142251545968,,,0.0949,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695W,NP_000240:p.Ser695Trp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4082,-0.41973,-0.9840517714789891,Neutral,Neutral,False,0.02,0.08382,,,0.05147,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,229906,Uncertain significance,2,58.74,-,-0.0792,3.1193,-21.8423,loss_of_function,-2.23352000367687,0.6975785912726855,,,0.1691,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +S695Y,NP_000240:p.Ser695Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59146,-1.24864,-0.7616897085639951,Neutral,Neutral,False,0.02,0.12316,,,-0.03158,,,Uncertain,Neutral,Uncertain,26.9,,False,26.9,,uncertain,,,UP,-,neutral,neutral,,,,58.74,-,-0.0743,3.1193,-21.8423,loss_of_function,-2.23352000367687,0.6975785912726855,,,0.0889,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +T696A,NP_000240:p.Thr696Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23069,0.30442,0.556466380049695,Neutral,Neutral,False,0.017,-0.04898,,,0.02587,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,DOWN,-,destabilizing,neutral,1474155,Uncertain significance,2,58.25,B,0.0922,3.4727,-3.5275,gain_of_function,-0.0332449960331449,0.9692046750506489,,,0.0606,benign,0.051249869,neutral,-0.169548378,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696C,NP_000240:p.Thr696Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05837,0.12483,0.8827403091386571,Neutral,Neutral,False,0.017,-0.0209,,,0.01902,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,DOWN,-,destabilizing,neutral,,,,58.25,B,0.036,3.4727,-7.5274,gain_of_function,-0.816774911919753,0.8724771469753866,,,0.1783,benign,-0.033934012,neutral,-0.114095769,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696D,NP_000240:p.Thr696Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15253,1.14558,0.694918651741759,Neutral,Neutral,False,0.017,0.26856,,,0.06761,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,-,-,uncertain,neutral,,,,58.25,B,-0.0229,3.4727,-3.44,loss_of_function,-0.143286949073656,0.9556198892162263,,,0.1254,benign,0.008441271,neutral,-0.139349237,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696E,NP_000240:p.Thr696Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07841,0.16122,0.5360192628340615,Neutral,Neutral,False,0.017,0.506,,,0.13521,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0053,3.4727,-4.827,loss_of_function,-0.241386797785243,0.9435093677440606,,,0.1194,benign,-0.020269915,neutral,-0.085135155,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696F,NP_000240:p.Thr696Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84888,0.39966,-0.2857702053209454,Neutral,Neutral,False,0.017,0.20454,,,0.20572,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0354,3.4727,-7.5274,loss_of_function,-1.5081712976692,0.7871235925574427,,,0.095,benign,-0.076676912,neutral,-0.173446145,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696G,NP_000240:p.Thr696Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34128,1.49184,1.442546900523941,Neutral,Neutral,False,0.017,-0.02832,,,-0.03813,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,DOWN,-,destabilizing,neutral,,,,58.25,B,0.016,3.4727,-4.068,gain_of_function,-0.509500856685901,0.9104104271243649,,,0.1081,benign,0.007428216,neutral,-0.131173295,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696H,NP_000240:p.Thr696His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23337,0.81701,-0.0264299222865405,Neutral,Neutral,False,0.017,0.20292,,,0.06867,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0127,3.4727,-6.9425,loss_of_function,-1.13638297620397,0.8330212214461744,,,0.1074,benign,0.01020985,neutral,-0.222610408,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696I,NP_000240:p.Thr696Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14537,-0.79932,-0.5103046092635327,Neutral,Neutral,False,0.017,-0.17528,,,0.01514,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,405423,Uncertain significance,2,58.25,B,0.0527,3.4727,-6.2055,gain_of_function,-1.28532849749295,0.8146337523782424,,,0.0695,benign,-0.027137548,neutral,-0.179506115,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696K,NP_000240:p.Thr696Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33534,0.7619,0.3759198490762877,Neutral,Neutral,False,0.017,0.06192,,,-0.352,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0032,3.4727,-5.9425,loss_of_function,-0.900140356904,0.862185601934511,,,0.1055,benign,0.034371195,neutral,-0.125959744,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696L,NP_000240:p.Thr696Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.61469,-0.35034,-0.356566122500262,Neutral,Neutral,False,0.017,0.07254,,,0.42112,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,0.0007,3.4727,-6.2055,gain_of_function,-0.450192374355821,0.9177321167923241,,,0.0648,benign,0.005552914,neutral,-0.207378368,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696M,NP_000240:p.Thr696Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.83186,-0.62245,0.0236125270878084,Neutral,Neutral,False,0.017,0.0219,,,0.11694,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,0.0271,3.4727,-7.5274,gain_of_function,-1.28532849749295,0.8146337523782424,,,0.073,benign,0.001687907,neutral,-0.179090075,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696N,NP_000240:p.Thr696Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10867,0.42721,0.2696135714116182,Neutral,Neutral,False,0.017,0.16798,,,0.02128,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,-,-,uncertain,neutral,962013,Uncertain significance,2,58.25,B,0.0393,3.4727,-3.0039,gain_of_function,-0.140922136971933,0.9559118275638556,,,0.0708,benign,0.022649165,neutral,-0.11378452,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696P,NP_000240:p.Thr696Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78363,0.19116,1.7860397103365646,Neutral,Neutral,False,0.017,0.00996,,,0.01986,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,-,-,uncertain,neutral,,,,58.25,B,-0.0718,3.4727,-3.4831,loss_of_function,-0.267084566895914,0.9403369532226427,,,0.0644,benign,0.009282185,neutral,-0.164094031,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696Q,NP_000240:p.Thr696Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02171,0.4068,0.3690416163408688,Neutral,Neutral,False,0.017,0.19486,,,-0.11315,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,0.0186,3.4727,-5.2055,gain_of_function,-0.221288499799688,0.9459905221240601,,,0.113,benign,-0.063820079,neutral,-0.200321285,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696R,NP_000240:p.Thr696Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00728,1.12687,-0.0941300872531752,Neutral,Neutral,False,0.017,-0.07688,,,-0.47717,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0049,3.4727,-5.7201,loss_of_function,-0.792859669218691,0.8754295068826354,,,0.0879,benign,0.002572912,neutral,-0.134326769,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696S,NP_000240:p.Thr696Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57869,0.60952,0.7076715077095266,Neutral,Neutral,False,0.017,-0.04896,,,-0.00265,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,neutral,,,DOWN,-,destabilizing,neutral,,,,58.25,B,0.129,3.4727,-3.44,gain_of_function,-0.111553961616306,0.9595373572962032,,,0.0704,benign,-0.020989573,neutral,-0.20031272,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696V,NP_000240:p.Thr696Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.47704,-1.02381,-0.4507097543900978,Neutral,Neutral,False,0.017,0.02402,,,0.04697,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,0.0737,3.4727,-4.5275,gain_of_function,-0.286398117767908,0.9379526766349519,,,0.0703,benign,-0.000335622,neutral,-0.125287635,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696W,NP_000240:p.Thr696Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.77109,0.40782,-0.6617842791549927,Neutral,Neutral,False,0.017,0.18128,,,0.41417,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.1012,3.4727,-21.8152,loss_of_function,-1.5081712976692,0.7871235925574427,,,0.2598,benign,-0.015085109,neutral,-0.163789742,neutral,https://doi.org/10.1101/2022.10.22.513328 +T696Y,NP_000240:p.Thr696Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50375,0.31463,-0.224206622453067,Neutral,Neutral,False,0.017,0.05214,,,0.20778,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,neutral,neutral,,,,58.25,B,-0.0369,3.4727,-7.5274,loss_of_function,-1.5081712976692,0.7871235925574427,,,0.1193,benign,-0.029277413,neutral,-0.009257118,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697A,NP_000240:p.Leu697Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53159,3.41361,3.0968589330615,Destabilizing,Destabilizing,False,0.013,-0.0017,,,0.02754,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0114,3.4042,-3.6538,loss_of_function,-0.459202141052033,0.9166198523549501,,,0.074,benign,0.041960482,neutral,-0.06490305,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697C,NP_000240:p.Leu697Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64946,3.04864,3.25879580723437,Uncertain,Uncertain,False,0.013,-0.00994,,,0.04025,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0254,3.4042,-8.5116,loss_of_function,-0.87408868833302,0.8654017056875571,,,0.1801,benign,0.056142888,neutral,-0.042122626,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697D,NP_000240:p.Leu697Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.16433,4.41395,4.135446652677233,Destabilizing,Destabilizing,False,0.013,0.1758,,,-0.06691,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.1353,3.4042,-4.1194,loss_of_function,-0.681547145431916,0.8891711459080327,,,0.1496,benign,-0.056307151,neutral,-0.041146693,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697E,NP_000240:p.Leu697Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.74832,4.19456,3.8430939205806256,Destabilizing,Destabilizing,False,0.013,0.18826,,,-0.16452,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.1003,3.4042,-3.5118,loss_of_function,-0.519086231032542,0.9092271033642536,,,0.1072,benign,-0.010836948,neutral,0.102085093,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697F,NP_000240:p.Leu697Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83545,2.96599,1.0877748941309002,Uncertain,Neutral,False,0.013,-0.02422,,,-0.01652,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,UP,-,neutral,neutral,3230769,Uncertain significance,1,59.55,-,0.0405,3.4042,-6.5117,gain_of_function,-0.977049549668495,0.8526910874921932,,,0.0607,benign,0.011298209,neutral,0.017421981,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697G,NP_000240:p.Leu697Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.47844,5.18027,4.870911839919188,Destabilizing,Destabilizing,False,0.013,-0.0017,,,-0.00479,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0856,3.4042,-3.5118,loss_of_function,-0.331963017649308,0.9323276455504176,,,0.1263,benign,0.02965173,neutral,0.035782582,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697H,NP_000240:p.Leu697His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.83257,2.85,2.431417157324401,Uncertain,Uncertain,False,0.013,-0.42402,,,-0.09853,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0786,3.4042,-8.5116,loss_of_function,-1.24645657432681,0.8194325289956452,,,0.0824,benign,0.030474097,neutral,-0.063135736,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697I,NP_000240:p.Leu697Ile,"hg19,3:g.37090494C>A, hg38,3:g.37049003C>A",,,0.386,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76245,3.42585,1.6646892286252235,Uncertain,Neutral,False,0.013,0.01556,,,0.0112,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,59.55,-,0.1091,3.4042,-4.7044,gain_of_function,-0.260301269788352,0.941174357829807,,,0.0605,benign,0.007918031,neutral,-0.042131941,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697K,NP_000240:p.Leu697Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.17066,5.71837,4.8023849050746,Uncertain,Uncertain,False,0.013,-0.27502,,,-0.10646,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,59.55,-,-0.1086,3.4042,-5.3418,loss_of_function,-0.903377939628031,0.8617859192070425,,,0.1063,benign,0.025281732,neutral,-0.205734803,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697M,NP_000240:p.Leu697Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44362,1.11599,1.2464966178677173,Neutral,Neutral,False,0.013,-0.01284,,,-0.10105,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,59.55,-,0.0825,3.4042,-5.3418,gain_of_function,-0.504312313484349,0.9110509578150532,,,0.08,benign,-0.027675643,neutral,0.037053013,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697N,NP_000240:p.Leu697Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60639,3.10612,2.884635902490688,Uncertain,Uncertain,False,0.013,-0.0161,,,-0.19106,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0871,3.4042,-5.1898,loss_of_function,-1.00221718921653,0.8495841179794643,,,0.1074,benign,-0.08758641,destabilizing,0.067065685,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697P,NP_000240:p.Leu697Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.30106,3.22653,6.028782997809503,Uncertain,Uncertain,False,0.013,0.01754,,,0.05028,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0943,3.4042,-3.5576,loss_of_function,-0.331345691971716,0.932403855004071,,,0.0606,benign,-0.034164997,neutral,-0.096511247,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697Q,NP_000240:p.Leu697Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10334,3.02619,2.8436612215879173,Uncertain,Uncertain,False,0.013,-0.00052,,,0.11729,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0427,3.4042,-5.7044,loss_of_function,-0.451314690335921,0.9175935657960275,,,0.0709,benign,-0.027795035,neutral,0.0623886,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697R,NP_000240:p.Leu697Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45174,3.42721,4.04290503338047,Uncertain,Uncertain,False,0.013,-0.2902,,,-0.24423,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.55,-,-0.1046,3.4042,-6.1898,loss_of_function,-0.575117715366487,0.9023099622773336,,,0.0791,benign,0.043522022,neutral,0.289059223,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697S,NP_000240:p.Leu697Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79075,4.11769,3.895160256843704,Destabilizing,Destabilizing,False,0.013,-0.002,,,0.0292,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0483,3.4042,-4.9268,loss_of_function,-0.422615030551973,0.9211365666326465,,,0.0634,benign,-0.066321528,neutral,0.030164594,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697T,NP_000240:p.Leu697Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.68515,2.99354,3.1259348791656865,Uncertain,Uncertain,False,0.013,-0.00334,,,-0.02519,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,59.55,-,-0.0232,3.4042,-5.3418,loss_of_function,-0.685837332020638,0.8886415182125296,,,0.0754,benign,-0.01154944,neutral,-0.132031869,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697V,NP_000240:p.Leu697Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.80091,2.98673,2.0275795144298216,Uncertain,Uncertain,False,0.013,0.00668,,,-0.05638,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,234666,Uncertain significance,2,59.55,-,0.0738,3.4042,-4.5118,gain_of_function,-0.130725901341445,0.9571705627419427,,,0.0596,benign,0.011970985,neutral,0.142287692,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697W,NP_000240:p.Leu697Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.89306,8.62687,2.522089454800477,Destabilizing,Uncertain,False,0.013,0.10894,,,-0.17115,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.55,-,-0.1366,3.4042,-21.7995,loss_of_function,-1.70284844023579,0.7630905104869085,,,0.0969,benign,-0.002143849,neutral,0.095005541,neutral,https://doi.org/10.1101/2022.10.22.513328 +L697Y,NP_000240:p.Leu697Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.31996,2.99626,2.293246933056784,Uncertain,Uncertain,False,0.013,-0.53716,,,-0.04637,,,,Neutral,,4.5,,False,4.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.55,-,-0.0566,3.4042,-7.5117,loss_of_function,-1.42709166943457,0.7971329513035255,,,0.1189,benign,-0.020249792,neutral,0.041477822,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698A,NP_000240:p.Ser698Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.13517,0.00034,-0.3150441346229821,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,-,-,uncertain,neutral,,,,57.01,B,0.1054,3.1722,-3.8225,gain_of_function,-0.0394118702977498,0.9684433684413267,,,0.0636,benign,0.019519268,neutral,-0.073587946,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698C,NP_000240:p.Ser698Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.2712,0.46837,0.1684065520756406,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0357,3.1722,-7.5774,gain_of_function,-0.799032056383676,0.8746675197004142,,,0.0764,benign,0.025763741,neutral,0.116322762,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698D,NP_000240:p.Ser698Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.03561,1.68912,1.0899864208146666,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.009,3.1722,-3.368,gain_of_function,-0.390844854850105,0.9250586256374786,,,0.1536,benign,0.006203514,neutral,-0.003558607,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698E,NP_000240:p.Ser698Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.95684,4.46395,1.033095808055718,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0391,3.1722,-2.7195,gain_of_function,-0.374856063212392,0.9270324574729566,,,0.1982,benign,0.05976054,neutral,0.13635797,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698F,NP_000240:p.Ser698Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59782,3.81803,-0.7396401903683264,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,-0.0648,3.1722,-21.8651,loss_of_function,-1.852677340401,0.7445939874399016,,,0.1011,benign,0.07413911,neutral,0.090468445,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698G,NP_000240:p.Ser698Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15391,1.83503,0.9840410697239734,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,DOWN,-,neutral,neutral,,,,57.01,B,0.0932,3.1722,-4.4075,gain_of_function,-1.39139397559011,0.8015398662324276,,,0.07,benign,-0.045652566,neutral,-0.002434684,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698H,NP_000240:p.Ser698His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.9558,3.24014,-0.5218015224171796,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.012,3.1722,-6.5774,gain_of_function,-1.34988343687507,0.8066643824985804,,,0.1638,benign,0.026057494,neutral,0.087305633,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698I,NP_000240:p.Ser698Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.26046,1.36939,-0.3984484459515341,Uncertain,Uncertain,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.005,3.1722,-7.5774,gain_of_function,-0.868989553504527,0.8660311988278727,,,0.0962,benign,0.091647125,neutral,0.141516657,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698K,NP_000240:p.Ser698Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24547,3.98571,0.5132063026522307,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0078,3.1722,-5.5774,gain_of_function,-0.876490773988235,0.865105165883597,,,0.2882,benign,0.054703863,neutral,-0.06960393,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698L,NP_000240:p.Ser698Leu,"hg19,3:g.37090498C>T, hg38,3:g.37049007C>T",,,0.419,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.86513,2.38537,-0.7907497279520848,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,418307,Uncertain significance,2,57.01,B,0.0037,3.1722,-8.5773,gain_of_function,-0.623801491693571,0.8962999028705281,,,0.0674,benign,0.15967114,stabilizing,0.051267332,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698M,NP_000240:p.Ser698Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.12497,1.45884,-0.3579494031879759,Uncertain,Uncertain,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0377,3.1722,-7.5774,gain_of_function,-1.80590288552965,0.7503683392611131,,,0.143,benign,0.173068723,stabilizing,0.025167146,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698N,NP_000240:p.Ser698Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.25342,1.37517,-0.086760920760871,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0777,3.1722,-4.877,gain_of_function,-0.305644067218864,0.9355767455082558,,,0.0905,benign,0.073566209,neutral,-0.107596958,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698P,NP_000240:p.Ser698Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51685,5.01667,5.375980289669965,Uncertain,Uncertain,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,-0.0496,3.1722,-4.118,loss_of_function,-0.761524266501375,0.8792978927408308,,,0.067,benign,0.041361143,neutral,-0.099432558,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698Q,NP_000240:p.Ser698Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02787,3.02041,0.415375609944017,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0596,3.1722,-4.5774,gain_of_function,-0.602176866130273,0.8989694838704112,,,0.2462,benign,0.068684292,neutral,0.16965248,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698R,NP_000240:p.Ser698Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2196,4.18707,-0.2169205518483136,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,-0.0025,3.1722,-6.5774,loss_of_function,-1.81386190318438,0.7493857908120495,,,0.2357,benign,0.099666756,neutral,0.160646585,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698T,NP_000240:p.Ser698Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.04373,-0.29184,-0.0409304044702807,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,neutral,,,UP,-,neutral,neutral,,,,57.01,B,0.1191,3.1722,-2.9627,gain_of_function,-0.131545569845093,0.9570693738701569,,,0.0641,benign,0.113508406,stabilizing,0.019497,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698V,NP_000240:p.Ser698Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.89778,0.61531,-0.5781886303348888,Neutral,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,0.0308,3.1722,-7.5774,gain_of_function,-1.11186309608297,0.8360482244293628,,,0.1074,benign,0.095962972,neutral,0.085920695,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698W,NP_000240:p.Ser698Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30565,3.80204,-0.7899192229518615,Destabilizing,Uncertain,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,-0.0745,3.1722,-21.8651,loss_of_function,-1.852677340401,0.7445939874399016,,,0.1568,benign,0.176460824,stabilizing,0.037561919,neutral,https://doi.org/10.1101/2022.10.22.513328 +S698Y,NP_000240:p.Ser698Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86652,4.18537,-0.4283582217033854,Uncertain,Neutral,False,0.009,,,,,,,,,,3.0,,False,3.0,,uncertain,,,UP,-,neutral,neutral,,,,57.01,B,-0.0018,3.1722,-8.5773,loss_of_function,-1.852677340401,0.7445939874399016,,,0.095,benign,0.038698173,neutral,0.086427983,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699A,NP_000240:p.Gly699Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36628,-1.48367,0.0553451359080536,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,0.0047,3.1934,-3.7195,gain_of_function,-0.171789492626945,0.9521012225694685,,,0.0753,benign,0.004312923,neutral,0.091293437,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699C,NP_000240:p.Gly699Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19409,-0.81497,0.7110236153385537,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,1785789,Uncertain significance,1,46.76,-,-0.1477,3.1934,-21.8651,loss_of_function,-0.392663001299378,0.9248341736948645,,,0.0878,benign,-0.005214392,neutral,0.071550251,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699D,NP_000240:p.Gly699Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15777,-1.24354,0.0538900302186456,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.057,3.1934,-3.9925,loss_of_function,-0.101069421381414,0.9608316839573354,,,0.0735,benign,0.044665868,neutral,0.19190809,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699E,NP_000240:p.Gly699Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17876,-0.65714,0.3175945192595009,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0518,3.1934,-3.118,loss_of_function,-0.15048901319806,0.9547307874146636,,,0.0805,benign,0.044780712,neutral,0.10682999,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699F,NP_000240:p.Gly699Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54317,-1.83707,0.2419547024677071,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1036,3.1934,-5.7701,loss_of_function,-0.335263969025392,0.9319201399013909,,,0.1787,benign,0.025838102,neutral,0.098258455,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699H,NP_000240:p.Gly699His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05486,-1.10068,0.1004257260862706,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0774,3.1934,-5.5774,loss_of_function,-0.271205076673355,0.9398282722940646,,,0.1191,benign,0.018122253,neutral,-0.001373024,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699I,NP_000240:p.Gly699Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4179,-1.35714,0.3269567957358682,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1636,3.1934,-8.5773,loss_of_function,-0.939950188391546,0.8572710396251374,,,0.0955,benign,0.019628277,neutral,0.081915417,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699K,NP_000240:p.Gly699Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60188,-0.84796,0.3758961854829168,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0973,3.1934,-5.5774,loss_of_function,-0.711469682983026,0.8854771796249674,,,0.1243,benign,-0.005920432,neutral,-0.049074796,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699L,NP_000240:p.Gly699Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.93036,-1.92721,-0.5810003853869494,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.12,3.1934,-6.2555,loss_of_function,-0.334049496363241,0.9320700677294712,,,0.1327,benign,0.040395123,neutral,-0.049823022,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699M,NP_000240:p.Gly699Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.24351,-1.37619,-0.2746019066528765,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1379,3.1934,-21.8651,loss_of_function,-1.04383050822671,0.8444469133861882,,,0.1804,benign,0.038238295,neutral,0.092734613,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699N,NP_000240:p.Gly699Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21469,-1.47653,-0.2320668808030279,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0559,3.1934,-3.7195,loss_of_function,-0.103678582895304,0.9605095804377753,,,0.1006,benign,-0.001602877,neutral,0.038759073,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699P,NP_000240:p.Gly699Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51729,2.3551,3.7793449919579216,Uncertain,Uncertain,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1595,3.1934,-4.9925,loss_of_function,-0.399240760236093,0.9240221429742462,,,0.1998,benign,-0.0743063,neutral,-0.265763139,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699Q,NP_000240:p.Gly699Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1417,-1.82279,0.2512240632699014,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0666,3.1934,-5.2555,loss_of_function,-0.171153400443213,0.9521797487665069,,,0.1165,benign,-0.026235416,neutral,-0.116725915,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699R,NP_000240:p.Gly699Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.10297,-0.82381,-0.1074668171135961,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0805,3.1934,-5.4075,loss_of_function,-0.519610475895078,0.9091623848274994,,,0.0939,benign,0.022840584,neutral,0.149681666,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699S,NP_000240:p.Gly699Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03729,-1.29116,0.2783768694588073,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,0.0002,3.1934,-3.4481,gain_of_function,-0.0855549267436379,0.9627469633681425,,,0.062,benign,0.002885017,neutral,0.023481618,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699T,NP_000240:p.Gly699Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74914,-1.4602,0.48050331043127,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0812,3.1934,-4.3295,loss_of_function,-0.166352467105506,0.9527724286435542,,,0.0759,benign,0.067482827,neutral,-0.000184153,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699V,NP_000240:p.Gly699Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49396,-1.2932,0.2789616278535567,Neutral,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.0967,3.1934,-6.5774,loss_of_function,-0.506502913692316,0.9107805260946792,,,0.0751,benign,0.058930656,neutral,0.052336922,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699W,NP_000240:p.Gly699Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.45687,2.36701,-0.3821024679095502,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1855,3.1934,-21.8651,loss_of_function,-1.03292897214932,0.8457927185885281,,,0.1628,benign,0.004307797,neutral,-0.008019469,neutral,https://doi.org/10.1101/2022.10.22.513328 +G699Y,NP_000240:p.Gly699Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3863,2.8551,0.388358576556217,Uncertain,Neutral,False,0.006,,,,,,,Uncertain,Uncertain,Uncertain,66.5,,False,66.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,46.76,-,-0.1184,3.1934,-8.5773,loss_of_function,-0.519875173474293,0.9091297076546107,,,0.1225,benign,0.002809975,neutral,0.261902851,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700A,NP_000240:p.Gln700Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10772,-0.05816,0.1887903009328301,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0845,3.199,-4.5925,gain_of_function,-0.454823671247421,0.9171603786990821,,,0.1236,benign,0.007344432,neutral,-0.037810581,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700C,NP_000240:p.Gln700Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29395,0.64728,0.7489295379119423,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0179,3.199,-8.5923,gain_of_function,-1.4686186473496,0.7920064056021892,,,0.2706,benign,0.015907753,neutral,-0.059855951,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700D,NP_000240:p.Gln700Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34046,-0.05374,0.2770979928562855,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0035,3.199,-3.505,gain_of_function,-0.491204832151151,0.9126690890988067,,,0.1396,benign,0.031840284,neutral,-0.093879231,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700E,NP_000240:p.Gln700Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16838,0.0517,-0.0386828331491134,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0884,3.199,-2.8376,gain_of_function,-0.41598137390304,0.9219554979800542,,,0.0671,benign,0.042716291,neutral,0.080447731,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700F,NP_000240:p.Gln700Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.32091,0.11701,-0.5088148999973685,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.015,3.199,-7.5924,gain_of_function,-1.91516550402598,0.7368797630320596,,,0.3189,benign,-0.030224588,neutral,-0.134631852,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700G,NP_000240:p.Gln700Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02714,0.85952,1.4617968022809265,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0118,3.199,-5.0075,gain_of_function,-1.21938812658174,0.8227741551239244,,,0.1182,benign,0.013130041,neutral,-0.077997234,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700H,NP_000240:p.Gln700His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2747,0.42721,-0.2708889201821546,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.08,3.199,-5.2705,gain_of_function,-0.457510702983392,0.9168286620250786,,,0.1038,benign,0.020192871,neutral,-0.137751213,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700I,NP_000240:p.Gln700Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3547,0.53435,-0.7064958947782807,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.0366,3.199,-7.0075,gain_of_function,-1.35511362265348,0.806018710991389,,,0.1748,benign,0.087460374,neutral,-0.111835065,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700K,NP_000240:p.Gln700Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28816,0.53571,0.1284873246223195,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,2798632,Uncertain significance,1,40.28,-,0.0509,3.199,-4.6856,gain_of_function,-0.927686528364288,0.8587850003502359,,,0.0761,benign,0.049567403,neutral,-0.152674847,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700L,NP_000240:p.Gln700Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64975,-0.39694,-0.7744479974142077,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.0621,3.199,-5.2705,gain_of_function,-0.448182048902746,0.9179802934193554,,,0.0873,benign,0.087761248,neutral,-0.122386422,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700M,NP_000240:p.Gln700Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.03239,0.30918,-0.4299556127834381,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.0823,3.199,-7.0075,gain_of_function,-1.90305348637645,0.738375003358547,,,0.2034,benign,0.010827314,neutral,-0.041021578,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700N,NP_000240:p.Gln700Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18402,0.01054,0.0508736566236528,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0654,3.199,-5.2705,gain_of_function,-0.522276093213395,0.9088333117841254,,,0.1325,benign,0.004707891,neutral,-0.139141141,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700P,NP_000240:p.Gln700Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06041,5.42551,3.1829188086301827,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,-0.0942,3.199,-5.5924,loss_of_function,-0.89532480594832,0.8627800863706748,,,0.0733,benign,-0.024416637,neutral,-0.059346306,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700R,NP_000240:p.Gln700Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48085,0.67483,-0.2992229174458538,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1466201,Uncertain significance,1,40.28,-,0.0467,3.199,-5.7851,gain_of_function,-1.32615599480637,0.8095935582356131,,,0.0804,benign,0.071666155,neutral,-0.217820932,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700S,NP_000240:p.Gln700Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39981,0.41224,0.5374198514932335,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0739,3.199,-3.0689,gain_of_function,-0.252195633526618,0.9421750064881131,,,0.1102,benign,-0.023188063,neutral,-0.07258982,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700T,NP_000240:p.Gln700Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3111,0.22925,0.187950832671554,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.28,-,0.0547,3.199,-4.892,gain_of_function,-0.433357870593733,0.919810352609827,,,0.1085,benign,0.037756608,neutral,-0.022726931,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700V,NP_000240:p.Gln700Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25264,0.40408,-0.5366658950131975,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,40.28,-,0.0403,3.199,-6.2705,gain_of_function,-0.689757449497083,0.8881575759078735,,,0.1398,benign,0.079055766,neutral,0.049095977,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700W,NP_000240:p.Gln700Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.31311,0.06156,-0.8910983777313558,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,-0.0573,3.199,-21.8802,loss_of_function,-1.91516550402598,0.7368797630320596,,,0.2255,benign,0.123931457,stabilizing,-0.173547059,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q700Y,NP_000240:p.Gln700Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21657,0.04116,-0.3791219504176674,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,65.7,,False,65.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.28,-,0.0076,3.199,-8.5923,gain_of_function,-1.91516550402598,0.7368797630320596,,,0.1909,benign,0.003762372,neutral,-0.133441561,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701A,NP_000240:p.Gln701Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01545,0.67109,-0.2588838442591873,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0788,3.1325,-4.5162,gain_of_function,-0.671488290216342,0.8904129213406509,,,0.1267,benign,0.036409789,neutral,0.073812701,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701C,NP_000240:p.Gln701Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24743,1.39252,0.3357499586140178,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0168,3.1325,-7.6036,gain_of_function,-2.25458966143107,0.6949775215871082,,,0.3054,benign,-0.02770632,neutral,-0.017797023,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701D,NP_000240:p.Gln701Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10227,0.57245,-0.6405308491545358,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0003,3.1325,-2.9312,gain_of_function,-0.646510308923238,0.8934964773578556,,,0.1317,benign,0.094652395,neutral,0.245907284,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701E,NP_000240:p.Gln701Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0219,0.65238,-0.5904062490125217,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0822,3.1325,-2.8487,gain_of_function,-0.179660048251643,0.9511295948438131,,,0.0631,benign,0.103822445,neutral,0.16495022,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701F,NP_000240:p.Gln701Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15534,0.16122,-0.4485597243728528,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,-0.0641,3.1325,-21.8913,loss_of_function,-2.72756070191127,0.6365887878971295,,,0.3961,ambiguous,0.144607344,stabilizing,-0.253307068,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701G,NP_000240:p.Gln701Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15918,1.38605,0.0322938851470705,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0035,3.1325,-5.4337,gain_of_function,-2.00222430288642,0.7261322698729209,,,0.1171,benign,0.068261516,neutral,0.133868943,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701H,NP_000240:p.Gln701His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27281,0.35578,-0.7959186754061487,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,"917627, 90049","Uncertain significance, Pathogenic","1, 3",36.5,-,0.0701,3.1325,-6.0186,gain_of_function,-2.72756070191127,0.6365887878971295,,,0.1008,benign,0.02438372,neutral,0.011421599,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701I,NP_000240:p.Gln701Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57207,0.20918,-0.5924913977775431,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,0.0325,3.1325,-6.6036,gain_of_function,-2.11953493636084,0.7116501583889149,,,0.2028,benign,0.03801761,neutral,-0.123873739,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701K,NP_000240:p.Gln701Lys,"hg19,3:g.37090506C>A, hg38,3:g.37049015C>A",0.0004777070063694,0.0004906379889427,0.524,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02824,0.10748,-0.5036273493524751,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,90042,Likely benign,3,36.5,-,0.049,3.1325,-3.8487,gain_of_function,-0.538898644582542,0.9067812416951075,,,0.0715,benign,-0.081472249,destabilizing,-0.028933131,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701L,NP_000240:p.Gln701Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02469,-0.20986,-0.8186442236272534,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,0.0522,3.1325,-6.0186,gain_of_function,-1.44512214911834,0.7949070710984935,,,0.099,benign,0.05992415,neutral,-0.113528985,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701M,NP_000240:p.Gln701Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00208,-0.11054,-0.5332496863235936,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,0.0782,3.1325,-6.6036,gain_of_function,-2.37259418397531,0.680409748824418,,,0.236,benign,0.04358521,neutral,-0.14073576,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701N,NP_000240:p.Gln701Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01851,0.33027,-0.5827017381132926,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0599,3.1325,-5.1442,gain_of_function,-1.14524193738122,0.8319275740963851,,,0.1296,benign,0.062741104,neutral,0.01224159,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701P,NP_000240:p.Gln701Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51519,2.92653,0.4569569428059955,Uncertain,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,-0.0963,3.1325,-4.7963,loss_of_function,-1.15179394331543,0.8311187226089043,,,0.0703,benign,0.042691154,neutral,-0.192817652,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701R,NP_000240:p.Gln701Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02197,0.19558,-0.7355443251197352,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,1375572,Conflicting classifications of pathogenicity,1,36.5,-,0.0432,3.1325,-5.2817,gain_of_function,-0.896224017580573,0.8626690778225126,,,0.0833,benign,0.028062246,neutral,-0.038234359,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701S,NP_000240:p.Gln701Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32329,0.92891,-0.3432013970603831,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0595,3.1325,-4.6967,gain_of_function,-0.844940154875539,0.8690001204145441,,,0.1204,benign,0.072672297,neutral,0.041673082,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701T,NP_000240:p.Gln701Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35956,1.18503,-0.4225305075520885,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,36.5,-,0.0439,3.1325,-5.7963,gain_of_function,-1.0531481113069,0.8432966462486362,,,0.1133,benign,0.081208035,neutral,-0.25064243,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701V,NP_000240:p.Gln701Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48339,0.5898,-0.4880457994344572,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,36.5,-,0.0355,3.1325,-6.0186,gain_of_function,-1.15764149520522,0.8303968366564691,,,0.1543,benign,-0.016624386,neutral,0.150037748,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701W,NP_000240:p.Gln701Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05404,0.35884,-0.7994853922101552,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,-0.0635,3.1325,-21.8913,loss_of_function,-2.72756070191127,0.6365887878971295,,,0.2766,benign,0.112161989,stabilizing,-0.15998354,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q701Y,NP_000240:p.Gln701Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15304,-0.11497,-0.4654513469043492,Neutral,Neutral,False,0.008,,,,,,,Uncertain,Uncertain,Uncertain,113.0,,False,113.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,36.5,-,0.0065,3.1325,-7.6036,gain_of_function,-2.72756070191127,0.6365887878971295,,,0.213,benign,0.069275326,neutral,-0.065957185,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702A,NP_000240:p.Ser702Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90869,1.17109,0.0686378843945179,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,-,-,uncertain,neutral,,,,31.43,-,0.1352,3.4558,-3.0894,gain_of_function,-0.111418837594326,0.9595540384877758,,,0.0697,benign,-0.001890532,neutral,0.046245133,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702C,NP_000240:p.Ser702Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78349,1.56497,0.4131921548368195,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0567,3.4558,-8.5811,gain_of_function,-0.898582249826035,0.8623779517645205,,,0.0719,benign,0.020293085,neutral,-0.067661458,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702D,NP_000240:p.Ser702Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61692,0.71224,-0.3882092202991521,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0328,3.4558,-3.8263,gain_of_function,-0.187121538593334,0.9502084666241043,,,0.0996,benign,-0.031798385,neutral,0.18477259,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702E,NP_000240:p.Ser702Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91414,0.88912,-0.1305837781200491,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0625,3.4558,-3.2593,gain_of_function,-0.145758492123662,0.9553147748295112,,,0.1368,benign,0.037333975,neutral,0.225884302,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702F,NP_000240:p.Ser702Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53742,0.61054,-0.4458395608610105,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0291,3.4558,-8.5811,gain_of_function,-1.43358647443814,0.7963311613264122,,,0.1364,benign,0.008888218,neutral,-0.021246001,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702G,NP_000240:p.Ser702Gly,"hg19,3:g.37091977A>G",,,0.221,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44105,2.24116,0.6825550926838194,Uncertain,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,31.43,-,0.1217,3.4558,-3.9373,gain_of_function,-0.245923606225048,0.9429492943418385,,,0.0584,benign,0.00615357,neutral,0.155693651,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702H,NP_000240:p.Ser702His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03268,1.19932,-0.5640647060645465,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.036,3.4558,-6.9962,gain_of_function,-1.35435419937633,0.8061124625315309,,,0.1228,benign,0.041387413,neutral,-0.093838677,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702I,NP_000240:p.Ser702Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53144,0.85238,-0.4083494131948456,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.043,3.4558,-5.2593,gain_of_function,-0.215779457937556,0.9466706186852542,,,0.0864,benign,0.022498954,neutral,-0.019876048,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702K,NP_000240:p.Ser702Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20817,0.83231,-0.1518371958917053,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0395,3.4558,-4.4937,gain_of_function,-0.303711817939574,0.9358152835559058,,,0.1687,benign,-0.025410112,neutral,-0.073507988,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702L,NP_000240:p.Ser702Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37778,0.82993,-0.7492661493452824,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.04,3.4558,-6.5812,gain_of_function,-0.798746057287797,0.8747028265661959,,,0.0913,benign,0.029693728,neutral,-0.059623189,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702M,NP_000240:p.Ser702Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31139,1.28367,-0.3245233389270702,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0719,3.4558,-5.9962,gain_of_function,-0.572911537414634,0.9025823170852995,,,0.1234,benign,0.004314567,neutral,0.079473121,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702N,NP_000240:p.Ser702Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34097,0.55986,-0.6683719311888803,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,2809560,Uncertain significance,1,31.43,-,0.1119,3.4558,-3.2958,gain_of_function,-0.0867695804887903,0.96259701318519,,,0.0595,benign,-0.012430757,neutral,-0.139138878,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702P,NP_000240:p.Ser702Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23942,1.39456,3.1714048362962663,Neutral,Uncertain,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,-0.036,3.4558,-6.5812,loss_of_function,-0.515410873770405,0.9096808297830563,,,0.0961,benign,0.033664306,neutral,0.075979325,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702Q,NP_000240:p.Ser702Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46956,1.01667,-0.0450659623116034,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0836,3.4558,-4.9962,gain_of_function,-0.100646100332096,0.9608839433514601,,,0.1695,benign,0.003919019,neutral,0.037316162,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702R,NP_000240:p.Ser702Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05318,0.83844,-0.361392306439437,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0333,3.4558,-4.6743,gain_of_function,-0.286032758001722,0.9379977806524561,,,0.1493,benign,0.032134631,neutral,0.082087401,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702T,NP_000240:p.Ser702Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04698,1.36837,0.098066413042675,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,neutral,,,UP,-,mixed_effects,neutral,631445,Uncertain significance,2,31.43,-,0.1386,3.4558,-4.2593,gain_of_function,-0.0360549383357724,0.9688577849479785,,,0.0647,benign,0.072060576,neutral,-0.108827956,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702V,NP_000240:p.Ser702Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.7003,0.97517,-0.3099502174759938,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0679,3.4558,-5.4113,gain_of_function,-0.321120692282948,0.9336661411330515,,,0.0935,benign,0.084856121,neutral,0.060303062,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702W,NP_000240:p.Ser702Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35239,0.93435,-0.7187928148812117,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,-0.0484,3.4558,-21.8689,loss_of_function,-1.43358647443814,0.7963311613264122,,,0.1823,benign,0.038725399,neutral,-0.108067683,neutral,https://doi.org/10.1101/2022.10.22.513328 +S702Y,NP_000240:p.Ser702Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22366,0.33333,-0.3158695099521108,Neutral,Neutral,False,0.014,,,,,,,Uncertain,Uncertain,Uncertain,45.0,,False,45.0,,uncertain,,,UP,-,mixed_effects,neutral,,,,31.43,-,0.0243,3.4558,-8.5811,gain_of_function,-1.43358647443814,0.7963311613264122,,,0.1048,benign,0.03411479,neutral,-0.052030713,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703A,NP_000240:p.Glu703Ala,"hg19,3:g.37091981A>C, hg38,3:g.37050490A>C",,,0.451,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.63539,0.4602,0.2572686245240774,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,525855,Uncertain significance,2,35.62,S,-0.0132,2.3506,-4.3731,loss_of_function,-0.44212545277871,0.9187279860852636,,,0.0979,benign,0.077777885,neutral,-0.01249138,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703C,NP_000240:p.Glu703Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66649,0.95034,0.8678293688849777,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,35.62,S,-0.1038,2.3506,-8.5429,loss_of_function,-1.85672315046109,0.7440945282638832,,,0.4685,ambiguous,0.012552145,neutral,0.032786279,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703D,NP_000240:p.Glu703Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74906,0.24796,-0.2014541316587575,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1786019,Uncertain significance,1,35.62,S,0.0256,2.3506,-3.4986,gain_of_function,-0.0413840659352642,0.9681998989770092,,,0.0712,benign,0.071419205,neutral,0.018053406,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703F,NP_000240:p.Glu703Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27855,0.32483,0.0303350360512921,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.0815,2.3506,-8.5429,loss_of_function,-2.07711298382567,0.7168871895751586,,,0.4124,ambiguous,0.088400728,neutral,-0.092967418,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703G,NP_000240:p.Glu703Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58598,0.61054,0.5181407134263407,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1786007,Uncertain significance,1,35.62,S,-0.0449,2.3506,-5.543,loss_of_function,-0.565932439188083,0.9034438935305139,,,0.0831,benign,0.032072696,neutral,0.067253641,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703H,NP_000240:p.Glu703His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47956,0.09218,-0.2377444009890467,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.0596,2.3506,-5.9581,loss_of_function,-1.55355439404572,0.7815210052919204,,,0.2005,benign,0.058896936,neutral,-0.116593622,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703I,NP_000240:p.Glu703Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69812,0.3551,0.1129017584316649,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.0766,2.3506,-6.543,loss_of_function,-1.3709598210853,0.8040624824254821,,,0.1851,benign,0.001920658,neutral,-0.026835752,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703K,NP_000240:p.Glu703Lys,"hg19,3:g.37091980G>A",,1.5931684935e-05,0.457,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47811,-0.01088,0.0188058356714804,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,233011,Conflicting classifications of pathogenicity,1,35.62,S,-0.0365,2.3506,-4.6361,loss_of_function,-0.448572363345039,0.9179321087228817,,,0.0863,benign,-0.018921093,neutral,-0.021476638,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703L,NP_000240:p.Glu703Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.6583,0.03503,-0.2459045004579885,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.0838,2.3506,-7.543,loss_of_function,-0.638102399081277,0.8945344419828212,,,0.206,benign,0.034129745,neutral,0.065401723,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703M,NP_000240:p.Glu703Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47278,0.51939,0.0356671722955992,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.0378,2.3506,-8.5429,loss_of_function,-1.36451306777956,0.8048583403738919,,,0.2459,benign,0.045031438,neutral,0.037176766,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703N,NP_000240:p.Glu703Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61491,-0.14626,-0.133890537543555,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,35.62,S,-0.0464,2.3506,-5.7357,loss_of_function,-0.222584814370147,0.9458304908330193,,,0.1154,benign,0.014048969,neutral,-0.012817727,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703P,NP_000240:p.Glu703Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.37542,-0.06497,0.66141095301892,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,35.62,S,-0.1761,2.3506,-5.543,loss_of_function,-0.840041802550475,0.8696048267600689,,,0.2716,benign,0.031070419,neutral,-0.119728949,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703Q,NP_000240:p.Glu703Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25545,-0.4619,0.1248967642703535,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,186481,Uncertain significance,2,35.62,S,0.0139,2.3506,-4.4556,gain_of_function,-0.225447711953415,0.9454770633495915,,,0.1021,benign,0.083826284,neutral,-0.144657589,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703R,NP_000240:p.Glu703Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1249,0.31871,-0.1568041515777579,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.1,2.3506,-5.2211,loss_of_function,-0.935386914776116,0.8578343801789593,,,0.1375,benign,0.065287694,neutral,-0.089076201,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703S,NP_000240:p.Glu703Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67303,-0.05136,0.0206796522824631,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,35.62,S,-0.0336,2.3506,-5.7357,loss_of_function,-0.547367364118944,0.9057357700543828,,,0.1025,benign,-0.015990058,neutral,-0.191725837,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703T,NP_000240:p.Glu703Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81056,-0.07823,0.108715718652172,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,35.62,S,-0.0506,2.3506,-5.9581,loss_of_function,-1.18723336993901,0.8267436910189175,,,0.114,benign,-0.017139246,neutral,-0.000187365,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703V,NP_000240:p.Glu703Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82566,0.2881,0.2222689367967517,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,35.62,S,-0.0426,2.3506,-7.543,loss_of_function,-0.997564052376037,0.8501585522355803,,,0.1226,benign,-0.026606433,neutral,-0.144403865,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703W,NP_000240:p.Glu703Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31377,-0.00578,-0.2738023911420822,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.1593,2.3506,-21.8308,loss_of_function,-2.07711298382567,0.7168871895751586,,,0.6042,pathogenic,0.085443962,neutral,-0.035519646,neutral,https://doi.org/10.1101/2022.10.22.513328 +E703Y,NP_000240:p.Glu703Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31508,0.16088,0.0531208992618609,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,110.6,,False,110.6,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,35.62,S,-0.1501,2.3506,-21.8308,loss_of_function,-1.72881643921799,0.7598847358257497,,,0.2982,benign,0.170412443,stabilizing,-0.077463263,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704A,NP_000240:p.Val704Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3083,1.08503,0.2908776620362768,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,820745,Uncertain significance,2,34.13,S,0.081,3.6253,-2.9594,gain_of_function,-0.0996803467354908,0.9610031665696619,,,0.0698,benign,0.010263905,neutral,-0.000488399,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704C,NP_000240:p.Val704Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.343,0.91156,0.9997613401606642,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,0.0251,3.6253,-8.4511,gain_of_function,-0.734748764307661,0.8826033544566622,,,0.326,benign,0.066395535,neutral,0.117056257,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704D,NP_000240:p.Val704Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08979,0.7051,0.1938446080454398,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,-0.0863,3.6253,-3.0937,loss_of_function,-0.0422195694326088,0.9680967552598929,,,0.0771,benign,0.040432793,neutral,0.064059887,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704E,NP_000240:p.Val704Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20693,0.52109,0.0417685284591273,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,34.13,S,-0.0417,3.6253,-2.7233,loss_of_function,-0.0440042461447493,0.9678764351887907,,,0.0828,benign,0.017281785,neutral,0.137375451,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704F,NP_000240:p.Val704Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07438,1.03673,0.0353055527492968,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.011,3.6253,-5.8662,loss_of_function,-0.578817739020056,0.9018531907685843,,,0.0756,benign,-0.047536826,neutral,0.109508351,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704G,NP_000240:p.Val704Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77452,2.14184,0.9886388555999422,Uncertain,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,135850,Uncertain significance,2,34.13,S,-0.0552,3.6253,-4.9918,loss_of_function,-0.19199102752546,0.9496073234924328,,,0.0687,benign,-0.006349642,neutral,0.072705138,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704H,NP_000240:p.Val704His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02385,0.42823,0.0350203940355003,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.1115,3.6253,-7.4511,loss_of_function,-0.655556740337413,0.8923796866254872,,,0.1763,benign,0.032098317,neutral,0.071701545,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704I,NP_000240:p.Val704Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35328,0.01497,-0.2516013195651817,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,0.1398,3.6253,-4.0589,gain_of_function,-0.536197728670726,0.9071146723840857,,,0.0677,benign,0.158041315,stabilizing,-0.045099011,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704K,NP_000240:p.Val704Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00795,0.46327,0.0828139192625976,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.0922,3.6253,-4.9918,loss_of_function,-0.304909539142729,0.9356674237116861,,,0.1054,benign,-0.051166783,neutral,0.002503381,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704L,NP_000240:p.Val704Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03846,0.58367,-0.2371824538395445,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,141517,Uncertain significance,2,34.13,S,0.0744,3.6253,-4.1293,gain_of_function,-0.167486651796624,0.9526324124433705,,,0.0816,benign,0.009803242,neutral,0.02755206,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704M,NP_000240:p.Val704Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1241,1.00102,0.1495827866648474,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,956419,Uncertain significance,2,34.13,S,0.0645,3.6253,-4.2813,gain_of_function,-0.0243291956190323,0.9703053392593584,,,0.0724,benign,0.019598873,neutral,0.03667225,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704N,NP_000240:p.Val704Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35203,0.47109,0.3136534172882521,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,-0.0872,3.6253,-5.6438,loss_of_function,-0.445387360151501,0.918325300456313,,,0.0741,benign,-0.028539112,neutral,0.032610433,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704P,NP_000240:p.Val704Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70665,5.47449,3.0830178245815336,Uncertain,Uncertain,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,-0.1382,3.6253,-5.8662,loss_of_function,-0.3494554979016,0.9301681818970164,,,0.1313,benign,0.056550796,neutral,0.219393969,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704Q,NP_000240:p.Val704Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.04898,0.06395,0.3678287597504798,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,34.13,S,-0.0654,3.6253,-5.2813,loss_of_function,-0.041570786618042,0.9681768481276167,,,0.1168,benign,0.009352244,neutral,0.138886332,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704R,NP_000240:p.Val704Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.3371,0.83469,-0.005203363293712,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.1166,3.6253,-5.6438,loss_of_function,-0.683189758950167,0.8889683636760056,,,0.1128,benign,0.044811454,neutral,-0.007170917,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704S,NP_000240:p.Val704Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.7351,0.87041,0.3447637984079227,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,-0.0337,3.6253,-5.1293,loss_of_function,-0.348678377998566,0.9302641181027879,,,0.0714,benign,0.029980864,neutral,0.137967042,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704T,NP_000240:p.Val704Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24244,0.44218,0.2560129549580553,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,34.13,S,0.0501,3.6253,-5.2813,gain_of_function,-0.0998017261146645,0.960988182167575,,,0.0762,benign,-0.030922169,neutral,0.146891188,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704W,NP_000240:p.Val704Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49458,1.3051,-0.3370284408698626,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.0647,3.6253,-8.4511,loss_of_function,-1.0966896008204,0.8379214071365595,,,0.3393,benign,0.118043804,stabilizing,-0.092312182,neutral,https://doi.org/10.1101/2022.10.22.513328 +V704Y,NP_000240:p.Val704Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14934,0.92041,0.0696019606377307,Neutral,Neutral,False,0.017,,,,,,,Uncertain,Uncertain,Uncertain,89.9,,False,89.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.13,S,-0.0596,3.6253,-6.8662,loss_of_function,-1.0966896008204,0.8379214071365595,,,0.1846,benign,0.067109233,neutral,0.030728899,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705A,NP_000240:p.Pro705Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82638,1.24558,-0.0439690411983179,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,30.77,T,0.07,3.3459,-4.6305,gain_of_function,-0.117023911649223,0.9588620866592416,,,0.0549,benign,0.043956671,neutral,0.05067499,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705C,NP_000240:p.Pro705Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.75475,2.06531,0.5495678676227252,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,30.77,T,0.0266,3.3459,-6.7459,gain_of_function,-0.030942155769604,0.9694889629147472,,,0.14,benign,0.05121497,neutral,-0.02790966,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705D,NP_000240:p.Pro705Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40946,1.08401,-0.6642879959204617,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,30.77,T,0.016,3.3459,-3.746,gain_of_function,-0.424569505921688,0.9208952847525761,,,0.1355,benign,0.038974045,neutral,0.01694211,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705E,NP_000240:p.Pro705Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83637,0.9449,-0.6104170498920791,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0308,3.3459,-4.009,gain_of_function,-0.258131229586535,0.9414422513974803,,,0.1081,benign,-0.026270926,neutral,0.023835095,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705F,NP_000240:p.Pro705Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78523,1.78265,-0.3012507637174749,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,-0.0019,3.3459,-6.7459,loss_of_function,-0.888799356491616,0.8635856594352499,,,0.1496,benign,0.139748306,stabilizing,-0.062171567,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705G,NP_000240:p.Pro705Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84418,1.88741,0.1966226433923623,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,30.77,T,0.0521,3.3459,-5.3309,gain_of_function,-0.547490909200372,0.905720518294252,,,0.1091,benign,0.079550903,neutral,0.019077882,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705H,NP_000240:p.Pro705His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81938,1.42075,-0.6144398466284035,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0226,3.3459,-6.3309,gain_of_function,-0.443734415087147,0.9185293581277272,,,0.0812,benign,0.040503083,neutral,-0.031682769,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705I,NP_000240:p.Pro705Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.96811,1.63707,-0.2193094364411429,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0213,3.3459,-5.5236,gain_of_function,-0.658365661497663,0.8920329225838337,,,0.1155,benign,0.048014392,neutral,-0.005157346,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705K,NP_000240:p.Pro705Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29713,1.13197,-0.5162761366683211,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.034,3.3459,-5.009,gain_of_function,-0.404923567172977,0.9233205949460362,,,0.1195,benign,0.128710267,stabilizing,-0.058099205,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705L,NP_000240:p.Pro705Leu,"hg19,3:g.37091987C>T",,,0.387,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63051,1.4,-0.5567254035016633,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0237,3.3459,-4.161,gain_of_function,-0.22668680182144,0.9453240965035693,,,0.0703,benign,0.048996957,neutral,-0.104428861,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705M,NP_000240:p.Pro705Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74548,1.87721,-0.1727234337586725,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0566,3.3459,-7.3309,gain_of_function,-0.785986146511663,0.8762780499275653,,,0.1344,benign,0.076872488,neutral,-0.066007429,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705N,NP_000240:p.Pro705Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44112,1.35714,-0.4777133468047789,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,30.77,T,0.0414,3.3459,-5.009,gain_of_function,-0.526455593311302,0.9083173484432703,,,0.1072,benign,-0.044229408,neutral,-0.026433842,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705Q,NP_000240:p.Pro705Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55369,1.39048,-0.170275395847822,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0389,3.3459,-5.161,gain_of_function,-0.243897147175599,0.9431994626769903,,,0.0799,benign,0.029950119,neutral,-0.016720879,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705R,NP_000240:p.Pro705Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40225,1.6051,-0.5282185047500026,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,-0.0033,3.3459,-5.3309,loss_of_function,-0.838768434914284,0.8697620252298177,,,0.0927,benign,-0.005379347,neutral,0.065113264,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705S,NP_000240:p.Pro705Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78421,1.14864,-0.3375881219215626,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,30.77,T,0.0797,3.3459,-2.8074,gain_of_function,-0.0139300708025316,0.9715891213042444,,,0.0597,benign,0.050731113,neutral,-0.074973407,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705T,NP_000240:p.Pro705Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79996,1.34524,-0.0909250985609078,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,30.77,T,0.0582,3.3459,-4.6305,gain_of_function,-0.228165984194428,0.9451414900049397,,,0.0565,benign,-0.021199933,neutral,0.091824549,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705V,NP_000240:p.Pro705Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85154,1.52857,-0.0842644551433613,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,0.0678,3.3459,-5.161,gain_of_function,-0.308710531958759,0.9351981874618992,,,0.0945,benign,0.033868206,neutral,0.043525891,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705W,NP_000240:p.Pro705Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82198,2.10238,-0.5644133335184426,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,-0.0903,3.3459,-21.6186,loss_of_function,-1.28514285180901,0.8146566705179857,,,0.2308,benign,0.196750684,stabilizing,-0.042857229,neutral,https://doi.org/10.1101/2022.10.22.513328 +P705Y,NP_000240:p.Pro705Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78244,1.53673,-0.2383326906775912,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,92.5,,False,92.5,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,30.77,T,-0.0058,3.3459,-7.3309,loss_of_function,-0.911180017077276,0.8608227451785649,,,0.1467,benign,0.13172791,stabilizing,-0.096141168,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706A,NP_000240:p.Gly706Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.29507,1.74864,1.7668968120360766,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,0.0034,3.1851,-3.8207,gain_of_function,-0.207135868892191,0.9477376781364693,,,0.0767,benign,0.036434392,neutral,0.145402173,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706C,NP_000240:p.Gly706Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25533,2.34592,2.162188395996403,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0794,3.1851,-8.3442,loss_of_function,-1.26389388908637,0.8172798755758278,,,0.1084,benign,0.046935236,neutral,0.037786609,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706D,NP_000240:p.Gly706Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41822,0.8551,0.911678310852061,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0532,3.1851,-3.0964,loss_of_function,-0.111799451806723,0.9595070512940911,,,0.0873,benign,0.020030123,neutral,0.051421611,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706E,NP_000240:p.Gly706Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41653,1.48299,1.4193352905500325,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0525,3.1851,-3.0964,loss_of_function,-0.110693429997763,0.9596435907591566,,,0.0916,benign,0.058280553,neutral,0.147667538,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706F,NP_000240:p.Gly706Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41498,1.33571,1.2763255037266352,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.1175,3.1851,-8.3442,loss_of_function,-1.139919232515,0.8325846671747024,,,0.2504,benign,0.094519574,neutral,-0.070560089,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706H,NP_000240:p.Gly706His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.57426,0.94762,0.8739647755077525,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0842,3.1851,-6.7593,loss_of_function,-0.609990273514888,0.8980049111504231,,,0.1647,benign,0.046737047,neutral,0.055386043,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706I,NP_000240:p.Gly706Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.99697,5.52891,2.3567655864093404,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.153,3.1851,-6.3443,loss_of_function,-0.872607481916414,0.8655845620563346,,,0.1217,benign,0.131803373,stabilizing,-0.023142417,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706K,NP_000240:p.Gly706Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.29205,1.16803,1.1311112763800724,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0913,3.1851,-4.2568,loss_of_function,-0.486108113377696,0.9132982839747844,,,0.165,benign,0.003291041,neutral,-0.009708008,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706L,NP_000240:p.Gly706Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.52552,1.65578,1.3802135528837902,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.1234,3.1851,-6.7593,loss_of_function,-0.320881855754509,0.9336956257341389,,,0.179,benign,0.152354812,stabilizing,-0.048814372,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706M,NP_000240:p.Gly706Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30746,2.0949,1.4305851365974636,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0616,3.1851,-6.7593,loss_of_function,-1.28454449635382,0.8147305380792842,,,0.229,benign,0.090389745,neutral,-0.051242639,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706N,NP_000240:p.Gly706Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.39974,0.61327,0.9175759599460034,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0633,3.1851,-5.0224,loss_of_function,-0.394873687272169,0.9245612623673415,,,0.1284,benign,0.054006895,neutral,0.07667854,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706P,NP_000240:p.Gly706Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.07588,19.02755,5.86960339338608,Destabilizing,Destabilizing,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.162,3.1851,-5.3443,loss_of_function,-0.498974643969585,0.9117098982937478,,,0.2884,benign,0.051100278,neutral,0.041476019,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706Q,NP_000240:p.Gly706Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25756,1.36361,1.514918440286197,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0643,3.1851,-4.6439,loss_of_function,-0.218390552120566,0.9463482765758168,,,0.1442,benign,0.070952364,neutral,0.033184069,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706R,NP_000240:p.Gly706Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.3127,1.46156,1.0824400938502814,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.083,3.1851,-5.7593,loss_of_function,-0.982899871376602,0.8519688596030004,,,0.1266,benign,0.032992514,neutral,0.28329671,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706S,NP_000240:p.Gly706Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.52825,0.91395,1.3271374769158144,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0019,3.1851,-3.7004,loss_of_function,-0.174572693885933,0.9517576336745719,,,0.0713,benign,0.016688528,neutral,0.127266643,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706T,NP_000240:p.Gly706Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.15752,1.4381,2.1316864323772133,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0848,3.1851,-4.8849,loss_of_function,-0.518939257966376,0.9092452473318235,,,0.0866,benign,0.091058276,neutral,-0.050238442,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706V,NP_000240:p.Gly706Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.0816,5.63367,2.3083909435713936,Destabilizing,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.0946,3.1851,-6.0223,loss_of_function,-0.386254582580213,0.9256252992013804,,,0.0857,benign,0.054611841,neutral,0.039780407,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706W,NP_000240:p.Gly706Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.46862,2.09082,1.1055751182022482,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.1851,3.1851,-21.632,loss_of_function,-1.52523934405801,0.7850165256761542,,,0.229,benign,0.243524092,stabilizing,-0.136838631,neutral,https://doi.org/10.1101/2022.10.22.513328 +G706Y,NP_000240:p.Gly706Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43581,1.28912,1.1679530121225856,Uncertain,Uncertain,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,114.4,,False,114.4,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,34.28,T,-0.1857,3.1851,-21.632,loss_of_function,-1.52523934405801,0.7850165256761542,,,0.175,benign,0.089581374,neutral,0.018686565,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707A,NP_000240:p.Ser707Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86969,0.32993,-0.3952633978507758,Neutral,Neutral,False,0.007,0.0,,,-0.00321,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,-,-,uncertain,neutral,,,,38.65,-,0.0976,3.0508,-3.1656,gain_of_function,-0.0349372879269967,0.96899575997497,,,0.0629,benign,0.029831167,neutral,0.089988687,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707C,NP_000240:p.Ser707Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83317,0.80918,0.1361712020447275,Neutral,Neutral,False,0.007,0.0,,,-0.00019,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.0473,3.0508,-21.6628,loss_of_function,-0.141529694840738,0.9558368239556709,,,0.0719,benign,0.044920434,neutral,0.050419781,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707D,NP_000240:p.Ser707Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07415,0.6898,-0.1244883439438826,Neutral,Neutral,False,0.007,0.1531,,,-0.06715,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.004,3.0508,-3.7312,loss_of_function,-0.429988446287156,0.9202263113085362,,,0.1391,benign,0.010997482,neutral,0.130207784,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707E,NP_000240:p.Ser707Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47381,0.82789,-0.2439666087455222,Neutral,Neutral,False,0.007,0.19554,,,-0.02006,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0255,3.0508,-3.2051,gain_of_function,-0.416772031379898,0.921857890547664,,,0.1953,benign,0.098504849,neutral,0.107781296,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707F,NP_000240:p.Ser707Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26865,-0.78129,-0.7983078406509037,Neutral,Neutral,False,0.007,0.0,,,-0.0651,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,1786243,Uncertain significance,1,38.65,-,-0.0071,3.0508,-8.3749,loss_of_function,-1.44314779996785,0.7951508064160765,,,0.1019,benign,0.134372559,stabilizing,-0.024881624,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707G,NP_000240:p.Ser707Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57647,1.4966,0.3352389503136987,Neutral,Neutral,False,0.007,0.0,,,-0.01225,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,DOWN,-,mixed_effects,neutral,,,,38.65,-,0.0737,3.0508,-6.0531,gain_of_function,-0.519777453808817,0.9091417712420937,,,0.0652,benign,0.061410358,neutral,0.143421207,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707H,NP_000240:p.Ser707His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37322,0.27313,-0.7100573349894607,Neutral,Neutral,False,0.007,0.0,,,0.02087,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.0002,3.0508,-6.79,loss_of_function,-1.06548783227694,0.8417732957263784,,,0.155,benign,0.041463919,neutral,-0.094363014,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707I,NP_000240:p.Ser707Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81954,0.37041,-0.7200630308089762,Neutral,Neutral,False,0.007,0.0,,,0.01936,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0016,3.0508,-6.0531,gain_of_function,-0.780104645642211,0.8770041269144673,,,0.0912,benign,0.050822329,neutral,0.054393086,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707K,NP_000240:p.Ser707Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40246,0.85102,-0.3264685045192261,Neutral,Neutral,False,0.007,-0.09342,,,-0.21833,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0018,3.0508,-4.5677,gain_of_function,-0.596989990297871,0.8996098087227609,,,0.2638,benign,0.091419764,neutral,0.022917834,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707L,NP_000240:p.Ser707Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61449,1.31939,-0.9070459669772312,Neutral,Neutral,False,0.007,0.0,,,-0.02315,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0016,3.0508,-6.79,gain_of_function,-1.41206474355862,0.7989880398777838,,,0.0803,benign,0.086791919,neutral,0.079565007,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707M,NP_000240:p.Ser707Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39067,1.03299,-0.6631009421453771,Neutral,Neutral,False,0.007,0.0,,,-0.01467,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0306,3.0508,-6.79,gain_of_function,-1.01212843421306,0.8483605651715568,,,0.1359,benign,0.104428247,neutral,0.110557457,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707N,NP_000240:p.Ser707Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78833,1.10306,-0.3303865099996933,Neutral,Neutral,False,0.007,0.0,,,0.07209,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0691,3.0508,-4.375,gain_of_function,-0.75986940542903,0.8795021869452899,,,0.075,benign,0.025219261,neutral,0.075656143,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707P,NP_000240:p.Ser707Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74326,6.63639,3.70051115890689,Destabilizing,Destabilizing,False,0.007,0.0,,,0.02395,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,644643,Uncertain significance,1,38.65,-,-0.0672,3.0508,-5.375,loss_of_function,-0.443248506508771,0.9185893440130186,,,0.0834,benign,0.144636002,stabilizing,0.067432637,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707Q,NP_000240:p.Ser707Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55689,0.16531,-0.2171681481078613,Neutral,Neutral,False,0.007,0.01546,,,-0.01228,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0434,3.0508,-5.5677,gain_of_function,-0.380975746355829,0.9262769766533141,,,0.2279,benign,-0.039268642,neutral,-0.112333346,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707R,NP_000240:p.Ser707Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29163,1.27755,-0.5989843998891115,Neutral,Neutral,False,0.007,-0.13444,,,-0.01483,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.0086,3.0508,-5.5677,loss_of_function,-0.642522046989249,0.89398883216189,,,0.2178,benign,0.098880916,neutral,-0.011197541,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707T,NP_000240:p.Ser707Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01905,-0.02925,-0.1872285472766882,Neutral,Neutral,False,0.007,0.0,,,-0.10661,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,neutral,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.1027,3.0508,-3.9827,gain_of_function,-0.198480642021895,0.9488061742884598,,,0.0634,benign,0.051925969,neutral,0.035633119,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707V,NP_000240:p.Ser707Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34571,0.05646,-0.6602533997786308,Neutral,Neutral,False,0.007,0.0,,,-0.04469,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,0.0287,3.0508,-5.7901,gain_of_function,-0.641245297056119,0.8941464481794765,,,0.0931,benign,0.05951247,neutral,0.106627973,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707W,NP_000240:p.Ser707Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29551,-0.7983,-1.182642546155955,Neutral,Neutral,False,0.007,0.0,,,-0.30067,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.0846,3.0508,-21.6628,loss_of_function,-1.80593653106037,0.7503641856877125,,,0.1916,benign,0.107411849,neutral,-0.087747232,neutral,https://doi.org/10.1101/2022.10.22.513328 +S707Y,NP_000240:p.Ser707Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26033,-0.29422,-0.7273985992885618,Neutral,Neutral,False,0.007,0.0,,,-0.00869,,,Uncertain,Neutral,Uncertain,47.7,,False,47.7,,uncertain,,,UP,-,mixed_effects,neutral,,,,38.65,-,-0.0119,3.0508,-8.3749,loss_of_function,-1.39352282016134,0.8012770583053064,,,0.0981,benign,0.053290211,neutral,0.029419432,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708A,NP_000240:p.Ile708Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14625,1.15034,0.4267257593137724,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,0.0196,3.786,-3.1339,gain_of_function,0.0558827636168962,0.9802075834259844,,,0.0649,benign,0.086729183,neutral,0.096088712,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708C,NP_000240:p.Ile708Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02057,0.90646,1.104791564697466,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,0.0213,3.786,-6.7188,gain_of_function,-0.0590124537378621,0.9660236574047038,,,0.1754,benign,0.000987007,neutral,-0.025748023,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708D,NP_000240:p.Ile708Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.02484,0.83605,0.3103414917863822,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.1114,3.786,-4.4964,loss_of_function,-0.0829878833033437,0.9630638673706662,,,0.1124,benign,0.030388964,neutral,0.063216311,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708E,NP_000240:p.Ile708Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0562,0.43027,0.1281985232069532,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.0905,3.786,-4.1339,loss_of_function,-0.0959031153261837,0.9614694694507422,,,0.1182,benign,0.113448554,stabilizing,0.080115637,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708F,NP_000240:p.Ile708Phe,"hg19,3:g.37091995A>T, hg38,3:g.37050504A>T",,,0.392,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50921,0.48878,0.190797597698169,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.96,-,0.0403,3.786,-6.7188,gain_of_function,-0.965313194513782,0.854139951919334,,,0.0682,benign,-0.016053583,neutral,0.005560883,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708G,NP_000240:p.Ile708Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42073,1.45136,1.0463739511678176,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.072,3.786,-3.3038,loss_of_function,-0.0501623808014838,0.9671162074925368,,,0.1163,benign,-0.025783544,neutral,0.009169694,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708H,NP_000240:p.Ile708His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44638,0.78095,0.1221415278442317,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.0893,3.786,-6.7188,loss_of_function,-0.570299566179652,0.9029047674676536,,,0.0989,benign,0.042805541,neutral,0.08317555,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708K,NP_000240:p.Ile708Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18632,0.46803,0.3308406871720987,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,40.96,-,-0.0873,3.786,-4.9818,loss_of_function,-0.360343257570178,0.9288240774057063,,,0.0899,benign,-0.036728854,neutral,0.032846378,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708L,NP_000240:p.Ile708Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20332,0.44864,-0.0336937678714022,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,40.96,-,0.1269,3.786,-4.6033,gain_of_function,-0.521166591767054,0.9089702808138007,,,0.0586,benign,0.071655904,neutral,0.084361615,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708M,NP_000240:p.Ile708Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2528,0.76497,0.2567619469517029,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,40.96,-,0.1142,3.786,-5.9818,gain_of_function,-0.489199060582452,0.9129167035443948,,,0.0648,benign,0.014922749,neutral,0.021130969,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708N,NP_000240:p.Ile708Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09625,0.52687,0.3697873705284732,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,631395,Uncertain significance,1,40.96,-,-0.0321,3.786,-5.9818,loss_of_function,-0.149292401303838,0.9548785103136195,,,0.0618,benign,0.045908668,neutral,0.059703301,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708P,NP_000240:p.Ile708Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.65959,0.32041,1.9718430615710707,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.1428,3.786,-6.7188,loss_of_function,-0.173343699349365,0.9519093542421341,,,0.0963,benign,0.064183628,neutral,0.002855661,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708Q,NP_000240:p.Ile708Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29246,0.43605,0.4376313800386366,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.0532,3.786,-4.7188,loss_of_function,-0.337899998487033,0.9315947195076212,,,0.101,benign,0.015557901,neutral,0.072944056,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708R,NP_000240:p.Ile708Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.201,0.7466,0.1305520463481579,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.96,-,-0.1087,3.786,-3.9115,loss_of_function,-0.519379580764421,0.9091908890553282,,,0.0745,benign,0.017173955,neutral,0.070180583,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708S,NP_000240:p.Ile708Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01779,0.76054,0.5073335080840288,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,-0.0221,3.786,-3.3496,loss_of_function,0.0617439157049924,0.9809311483360914,,,0.0565,benign,0.052996911,neutral,0.084306781,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708T,NP_000240:p.Ile708Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00968,0.33912,0.2863520446852008,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,820762,Conflicting classifications of pathogenicity,1,40.96,-,0.0615,3.786,-3.2594,gain_of_function,0.0623793102246975,0.981009588405829,,,0.0601,benign,-0.085445771,destabilizing,-0.066341721,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708V,NP_000240:p.Ile708Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14681,0.04456,0.0370383720224276,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,40.96,-,0.174,3.786,-3.1745,gain_of_function,-0.0055964150388267,0.9726179191912289,,,0.0591,benign,-0.027598051,neutral,0.036953951,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708W,NP_000240:p.Ile708Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17049,1.06871,-0.1492685852081687,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.96,-,-0.1245,3.786,-21.5915,loss_of_function,-0.965313194513782,0.854139951919334,,,0.2775,benign,0.1239983,stabilizing,0.061090839,neutral,https://doi.org/10.1101/2022.10.22.513328 +I708Y,NP_000240:p.Ile708Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36125,0.78197,0.3033684816265231,Neutral,Neutral,False,0.011,,,,,,,Uncertain,Uncertain,Uncertain,101.0,,False,101.0,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,40.96,-,-0.0605,3.786,-7.3037,loss_of_function,-0.676370596454089,0.8898101959001687,,,0.1389,benign,0.047794125,neutral,0.001304612,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709A,NP_000240:p.Pro709Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.83219,0.86088,0.1035827110740628,Neutral,Neutral,False,0.006,0.0,,,0.00169,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,3230771,Uncertain significance,1,51.74,-,0.0852,3.4615,-3.7415,gain_of_function,0.0351625023655843,0.9776496470775742,,,0.0593,benign,0.035917889,neutral,0.147504347,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709C,NP_000240:p.Pro709Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21733,1.46361,0.7892012824159028,Neutral,Neutral,False,0.006,0.0,,,-0.0458,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,51.74,-,0.0342,3.4615,-7.3264,gain_of_function,-0.308011633606849,0.935284467141316,,,0.1529,benign,0.081022172,neutral,-0.039776879,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709D,NP_000240:p.Pro709Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48646,0.64864,0.2285689761123827,Neutral,Neutral,False,0.006,0.09534,,,-0.11053,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,51.74,-,0.0227,3.4615,-4.5191,gain_of_function,-0.197235864074005,0.9489598433334582,,,0.1603,benign,0.073704704,neutral,-0.028119855,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709E,NP_000240:p.Pro709Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48005,0.5881,0.0053126730923153,Neutral,Neutral,False,0.006,-0.01138,,,-0.03352,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0449,3.4615,-3.3264,gain_of_function,-0.221429108365235,0.9459731638602648,,,0.1228,benign,0.098866755,neutral,0.238417475,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709F,NP_000240:p.Pro709Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42548,0.35748,-0.2732747291052112,Neutral,Neutral,False,0.006,0.0,,,-0.24003,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0007,3.4615,-8.3263,gain_of_function,-0.904612300396884,0.8616335361729,,,0.1704,benign,0.048213057,neutral,-0.031738587,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709G,NP_000240:p.Pro709Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12341,1.84898,0.8928842103959835,Neutral,Neutral,False,0.006,0.0,,,-0.01328,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,51.74,-,0.0679,3.4615,-4.3264,gain_of_function,-0.232775926633525,0.9445723881395712,,,0.1178,benign,-0.10979644,destabilizing,0.022682796,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709H,NP_000240:p.Pro709His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57851,1.00034,-0.238518575721775,Neutral,Neutral,False,0.006,0.0,,,-0.25338,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0312,3.4615,-6.7414,gain_of_function,-0.673586149417449,0.8901539385875247,,,0.0908,benign,0.04422943,neutral,-0.042372459,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709I,NP_000240:p.Pro709Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.17008,1.57721,-0.1686533166478937,Uncertain,Uncertain,False,0.006,0.0,,,-0.00425,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0295,3.4615,-6.0045,gain_of_function,-0.43423141999401,0.9197025120890923,,,0.1267,benign,-0.033698699,neutral,-0.005865367,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709K,NP_000240:p.Pro709Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90413,0.8915,-0.0733204357845751,Neutral,Neutral,False,0.006,0.00046,,,0.01919,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0498,3.4615,-4.0045,gain_of_function,-0.294069206577034,0.9370056732811449,,,0.1327,benign,0.030796461,neutral,0.09037102,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709L,NP_000240:p.Pro709Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.03952,0.22857,-0.5141663320652129,Neutral,Neutral,False,0.006,0.0,,,-0.00993,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1049812,Uncertain significance,0,51.74,-,0.0233,3.4615,-6.3264,gain_of_function,-0.0417437400030341,0.968155496864489,,,0.0796,benign,-0.043288633,neutral,-0.067587339,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709M,NP_000240:p.Pro709Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.04957,0.23163,-0.2102135020871065,Neutral,Neutral,False,0.006,6e-05,,,0.01408,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0723,3.4615,-6.3264,gain_of_function,-0.127601482274728,0.9575562753061564,,,0.1473,benign,-0.022287332,neutral,0.208486239,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709N,NP_000240:p.Pro709Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.53819,1.09864,0.0923392208940143,Neutral,Neutral,False,0.006,0.00352,,,0.01547,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,51.74,-,0.0483,3.4615,-5.7415,gain_of_function,-0.378022412865295,0.926641568537209,,,0.1295,benign,-0.018881509,neutral,0.062823406,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709Q,NP_000240:p.Pro709Gln,"hg19,3:g.37091999C>A, hg38,3:g.37050508C>A",,,0.475,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95569,0.62075,0.0100216730435892,Neutral,Neutral,False,0.006,0.00204,,,-0.03839,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0466,3.4615,-5.7415,gain_of_function,-0.509859603495525,0.9103661394827621,,,0.0871,benign,0.000957486,neutral,0.028120007,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709R,NP_000240:p.Pro709Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.88338,0.9415,-0.4106342835667315,Neutral,Neutral,False,0.006,-0.23544,,,0.11626,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,2708014,Uncertain significance,1,51.74,-,0.0157,3.4615,-3.6826,gain_of_function,-0.116539414223743,0.9589218983363395,,,0.0976,benign,7.78278854378004e-05,neutral,0.010822704,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709S,NP_000240:p.Pro709Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21776,1.16361,0.2769983264944936,Neutral,Neutral,False,0.006,0.0,,,-0.01272,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,51.74,-,0.0895,3.4615,-2.9689,gain_of_function,0.0498706766120219,0.9794653854540066,,,0.0659,benign,0.045694104,neutral,0.164730732,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709T,NP_000240:p.Pro709Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51768,1.14932,0.1716351928571824,Neutral,Neutral,False,0.006,0.0,,,-0.03317,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,51.74,-,0.0704,3.4615,-4.3264,gain_of_function,0.0307124269536531,0.9771002809517672,,,0.0602,benign,-0.018628285,neutral,0.222413482,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709V,NP_000240:p.Pro709Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57189,1.05136,0.0416539595071102,Neutral,Neutral,False,0.006,0.0,,,-0.02424,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,0.0784,3.4615,-5.1565,gain_of_function,-0.030887535689844,0.9694957058165704,,,0.1012,benign,-0.008290462,neutral,-0.069077589,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709W,NP_000240:p.Pro709Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4958,0.66327,-0.746347418441547,Neutral,Neutral,False,0.006,0.0001,,,-0.01087,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,-0.0067,3.4615,-7.3264,loss_of_function,-0.61191481153827,0.8977673250647943,,,0.2363,benign,0.098719177,neutral,0.069904113,neutral,https://doi.org/10.1101/2022.10.22.513328 +P709Y,NP_000240:p.Pro709Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23549,-0.16156,-0.2351118607437574,Neutral,Neutral,False,0.006,0.0255,,,0.0751,,,Uncertain,Neutral,Uncertain,58.1,,False,58.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,51.74,-,-0.0681,3.4615,-21.6142,loss_of_function,-1.14685749496916,0.831728131945197,,,0.1638,benign,0.069791962,neutral,0.14074475,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710A,NP_000240:p.Asn710Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.175,0.87415,0.0051951172440578,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,62.15,-,0.0615,3.2972,-5.1898,gain_of_function,-0.228164495670123,0.9451416737647089,,,0.0725,benign,0.053799561,neutral,0.059553073,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710C,NP_000240:p.Asn710Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06153,1.48027,0.4308748177270205,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,62.15,-,-0.0732,3.2972,-21.7995,loss_of_function,-1.11254388533284,0.8359641803361572,,,0.0938,benign,0.008209188,neutral,0.006684984,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710D,NP_000240:p.Asn710Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39507,1.23469,0.9212751621617388,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1612218,Conflicting classifications of pathogenicity,1,62.15,-,0.0671,3.2972,-3.4674,gain_of_function,-0.0469125760242976,0.9675173990443217,,,0.0675,benign,0.072461111,neutral,-0.027025163,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710E,NP_000240:p.Asn710Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07599,0.6415,0.6801900874617813,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0379,3.2972,-3.8679,gain_of_function,-0.506511674271265,0.9107794445927109,,,0.1083,benign,0.014212029,neutral,0.1604738,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710F,NP_000240:p.Asn710Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.54973,-0.61293,-1.4790538647678646,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,-0.0804,3.2972,-21.7995,loss_of_function,-1.28039913242687,0.8152422872767254,,,0.189,benign,0.012615352,neutral,0.054884419,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710G,NP_000240:p.Asn710Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21836,1.81497,1.2240862123750458,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,62.15,-,0.0256,3.2972,-6.1898,gain_of_function,-0.60370992804744,0.898780225889794,,,0.0968,benign,0.031483253,neutral,0.0912287,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710H,NP_000240:p.Asn710His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15062,0.31497,-0.710085028383382,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,583197,Uncertain significance,1,62.15,-,0.0584,3.2972,-4.8113,gain_of_function,-0.27110623613534,0.9398404742543497,,,0.057,benign,0.072145637,neutral,0.196636243,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710I,NP_000240:p.Asn710Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78862,0.61156,-0.4405968490183182,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,480879,Uncertain significance,1,62.15,-,-0.0735,3.2972,-21.7995,loss_of_function,-0.376336968746135,0.9268496382484605,,,0.0818,benign,0.058746854,neutral,0.156933303,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710K,NP_000240:p.Asn710Lys,"hg38,3:g.37050512C>G",,3.9823819423e-06,0.417,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.47457,1.12993,0.2468867771695926,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,237330,Uncertain significance,2,62.15,-,0.0725,3.2972,-2.4032,gain_of_function,-0.131272854755507,0.9571030408124772,,,0.0761,benign,0.047543779,neutral,0.094312462,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710L,NP_000240:p.Asn710Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.09043,-0.40544,-0.902168186834022,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,-0.0041,3.2972,-6.9267,loss_of_function,-0.375104219117818,0.9270018223857412,,,0.0931,benign,-0.016356358,neutral,0.018078443,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710M,NP_000240:p.Asn710Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.24868,0.1,-0.5297076812723811,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0388,3.2972,-7.5117,gain_of_function,-0.397892430890471,0.924188595539731,,,0.1509,benign,-0.010288345,neutral,0.0575405,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710P,NP_000240:p.Asn710Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16355,1.75476,3.970486638416287,Neutral,Uncertain,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,62.15,-,-0.1079,3.2972,-5.9268,loss_of_function,-0.34041145234002,0.931284678093568,,,0.1165,benign,-0.008060679,neutral,0.206105741,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710Q,NP_000240:p.Asn710Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12238,-0.01429,0.1602628152530455,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0705,3.2972,-4.6049,gain_of_function,-0.058234077210591,0.966119748741956,,,0.0963,benign,-0.06238207,neutral,-0.031210992,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710R,NP_000240:p.Asn710Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11183,1.03027,-0.4869677503741865,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0331,3.2972,-3.8113,gain_of_function,-0.23682625933637,0.9440723706389181,,,0.0837,benign,0.010866999,neutral,0.142881601,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710S,NP_000240:p.Asn710Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95115,1.87551,0.6519614076478031,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1786354,Uncertain significance,1,62.15,-,0.095,3.2972,-4.5118,gain_of_function,-0.176535201835467,0.9515153601647319,,,0.0561,benign,0.090697607,neutral,0.08558373,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710T,NP_000240:p.Asn710Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34761,2.79864,0.1792929054100017,Uncertain,Uncertain,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,62.15,-,0.0526,3.2972,-3.1194,gain_of_function,-0.177371892378787,0.9514120699056386,,,0.0634,benign,0.05241473,neutral,0.157165092,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710V,NP_000240:p.Asn710Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36563,1.09252,-0.3174114732435062,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0171,3.2972,-5.3418,gain_of_function,-0.285768534207298,0.938030399336153,,,0.0757,benign,0.027426025,neutral,0.155653638,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710W,NP_000240:p.Asn710Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.33578,-0.9432,-1.5066042117361182,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,-0.0855,3.2972,-21.7995,loss_of_function,-1.28039913242687,0.8152422872767254,,,0.3369,benign,0.077162781,neutral,-0.112168221,neutral,https://doi.org/10.1101/2022.10.22.513328 +N710Y,NP_000240:p.Asn710Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.71584,-0.74082,-1.2646221214393183,Neutral,Neutral,False,0.003,,,,,,,Uncertain,Uncertain,Uncertain,35.0,,False,35.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,62.15,-,0.0038,3.2972,-8.5116,gain_of_function,-0.582157777086882,0.9014408598296745,,,0.0739,benign,-0.015629085,neutral,0.131616156,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711A,NP_000240:p.Ser711Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59173,-0.06293,-0.0309475371098261,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,-,-,uncertain,neutral,,,,80.85,B,0.1148,3.224,-2.9143,gain_of_function,-0.189112093687497,0.9499627306670565,,,0.0673,benign,0.080321027,neutral,0.001905158,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711C,NP_000240:p.Ser711Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00416,0.22789,0.6049528306712967,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,2600683,Uncertain significance,1,80.85,B,-0.0326,3.224,-21.9024,loss_of_function,-0.205698750766723,0.9479150917629436,,,0.079,benign,0.048028762,neutral,0.023573511,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711D,NP_000240:p.Ser711Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.65287,-0.10748,0.1534831412371523,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0074,3.224,-4.6147,gain_of_function,-0.708649334220005,0.8858253544152668,,,0.1976,benign,-0.029532653,neutral,0.031267021,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711E,NP_000240:p.Ser711Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.79774,0.2466,-0.1350322259803488,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0366,3.224,-4.1553,gain_of_function,-0.732272843168934,0.8829090093226764,,,0.2428,benign,0.140848085,stabilizing,-0.079326333,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711F,NP_000240:p.Ser711Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59829,-0.99932,-0.5804860961802333,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0076,3.224,-8.6146,gain_of_function,-1.38425904472676,0.8024206803677995,,,0.1496,benign,0.120091622,stabilizing,-0.160537016,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711G,NP_000240:p.Ser711Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90227,0.99116,0.9340937480417838,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,DOWN,-,neutral,neutral,,,,80.85,B,0.0927,3.224,-5.4448,gain_of_function,-0.54300073945787,0.9062748341040563,,,0.0857,benign,0.012470677,neutral,0.131749576,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711H,NP_000240:p.Ser711His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17104,-0.05612,-0.4393144387974707,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0292,3.224,-4.1553,gain_of_function,-0.548071226177996,0.905648877600505,,,0.1416,benign,0.010222802,neutral,0.039745114,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711I,NP_000240:p.Ser711Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15149,-0.78129,-0.5695243103951653,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0045,3.224,-8.6146,gain_of_function,-1.07658508827872,0.8404033287095404,,,0.1354,benign,0.042963565,neutral,-0.233280155,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711K,NP_000240:p.Ser711Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41753,-0.63844,-0.2216134065723218,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0184,3.224,-4.4448,gain_of_function,-0.316644110265243,0.9342187795250505,,,0.288,benign,-0.033681915,neutral,-0.005904925,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711L,NP_000240:p.Ser711Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.54924,-0.9119,-0.8528803643042432,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0134,3.224,-7.6146,gain_of_function,-0.556900783830388,0.9045588601443784,,,0.0901,benign,0.091612912,neutral,-0.145742927,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711M,NP_000240:p.Ser711Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4262,-0.24728,-0.3910822258297275,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0372,3.224,-8.6146,gain_of_function,-0.7843261888088,0.876482973316005,,,0.1709,benign,0.122049065,stabilizing,-0.190717464,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711N,NP_000240:p.Ser711Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.10487,0.01429,-0.072552198736111,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0855,3.224,-4.2928,gain_of_function,-0.394310013797231,0.924630848404539,,,0.1058,benign,-0.036088534,neutral,0.0655714,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711P,NP_000240:p.Ser711Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.2918,1.45612,1.112389832948818,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,140884,Conflicting classifications of pathogenicity,1,80.85,B,-0.0393,3.224,-3.0298,loss_of_function,-0.109618839933891,0.9597762499448049,,,0.059,benign,0.017306948,neutral,0.096316032,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711Q,NP_000240:p.Ser711Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.26379,-0.21122,-0.0669533529526433,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0591,3.224,-5.6147,gain_of_function,-0.560663097274419,0.9040943989005806,,,0.2021,benign,0.045295858,neutral,-0.11049672,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711R,NP_000240:p.Ser711Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06915,-0.22313,-0.535946382173681,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0122,3.224,-4.6147,gain_of_function,-0.734261307708485,0.882663531446623,,,0.2316,benign,0.060318251,neutral,0.080923258,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711T,NP_000240:p.Ser711Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01064,-0.02925,-0.074766416508652,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,neutral,,,UP,-,neutral,neutral,,,,80.85,B,0.1187,3.224,-3.9709,gain_of_function,-0.109378043165233,0.9598059765394487,,,0.0671,benign,0.071954836,neutral,0.004824406,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711V,NP_000240:p.Ser711Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47845,-0.68673,-0.4800396753447988,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0383,3.224,-7.0297,gain_of_function,-1.48555561724075,0.78991552024167,,,0.1191,benign,0.039298588,neutral,-0.071383132,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711W,NP_000240:p.Ser711Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47957,-0.83095,-1.1123396419416014,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,-0.0699,3.224,-21.9024,loss_of_function,-1.38425904472676,0.8024206803677995,,,0.2081,benign,0.186694186,stabilizing,-0.354983938,neutral,https://doi.org/10.1101/2022.10.22.513328 +S711Y,NP_000240:p.Ser711Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65567,-1.21088,-0.5018697055028315,Neutral,Neutral,False,0.005,,,,,,,Uncertain,Uncertain,Uncertain,56.7,,False,56.7,,uncertain,,,UP,-,neutral,neutral,,,,80.85,B,0.0028,3.224,-8.6146,gain_of_function,-0.963191286576328,0.8544019035122875,,,0.1229,benign,-0.013811622,neutral,-0.039246421,neutral,https://doi.org/10.1101/2022.10.22.513328 +W712A,NP_000240:p.Trp712Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.44731,4.27381,5.9297964164158685,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2582,2.549,-5.8073,loss_of_function,-1.78020879068749,0.7535403001905197,,,0.7943,pathogenic,-0.015719986,neutral,-1.024444531,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712C,NP_000240:p.Trp712Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.33561,5.1915,6.215035146216647,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,"1467462, 834315","Uncertain significance, Uncertain significance","1, 1",85.01,H,-0.2762,2.549,-21.9024,loss_of_function,-2.99184168766898,0.6039630438746939,,,0.8749,pathogenic,-0.018913547,neutral,-0.862950003,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712D,NP_000240:p.Trp712Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.08614,5.97007,7.22725884587605,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2887,2.549,-7.0297,loss_of_function,-2.8968064197549,0.6156952398750183,,,0.9555,pathogenic,-0.000897875,neutral,-1.051528224,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712E,NP_000240:p.Trp712Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.92028,5.7568,7.124677682335659,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2911,2.549,-3.6605,loss_of_function,-1.64315098565684,0.7704602191562616,,,0.9234,pathogenic,-0.067804994,neutral,-1.055786401,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712F,NP_000240:p.Trp712Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32736,1.97449,1.6575504728639348,Neutral,Neutral,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.1149,2.549,-6.6147,loss_of_function,-1.16251145505586,0.8297956353894503,,,0.5688,pathogenic,-0.00129054,neutral,-0.668973401,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712G,NP_000240:p.Trp712Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.78856,6.48503,7.627488342756933,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2526,2.549,-7.6146,loss_of_function,-2.66846800095234,0.6438838391455304,,,0.6197,pathogenic,-0.073120073,neutral,-1.153167152,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712H,NP_000240:p.Trp712His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.44146,3.94354,4.5224986181679965,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2558,2.549,-7.6146,loss_of_function,-2.0709529732315,0.7176476488577085,,,0.9145,pathogenic,0.038501325,neutral,-0.950281764,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712I,NP_000240:p.Trp712Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.75618,4.77381,5.242437241508752,Uncertain,Uncertain,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2371,2.549,-4.4448,loss_of_function,-1.96030790386409,0.7313068899876596,,,0.8358,pathogenic,-0.03748429,neutral,-0.875883803,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712K,NP_000240:p.Trp712Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.59715,6.44354,7.344711095954397,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.3203,2.549,-7.0297,loss_of_function,-2.20763358750839,0.700774294456362,,,0.969,pathogenic,0.051192224,neutral,-0.974964436,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712L,NP_000240:p.Trp712Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91885,4.2898,4.353437633531967,Uncertain,Uncertain,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,405437,Conflicting classifications of pathogenicity,1,85.01,H,-0.1982,2.549,-4.3668,loss_of_function,-2.02820395898252,0.7229250561297448,,,0.6815,pathogenic,-0.034602003,neutral,-0.95978415,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712M,NP_000240:p.Trp712Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33114,3.7,4.602267129895772,Uncertain,Uncertain,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2177,2.549,-5.8073,loss_of_function,-1.95743587199334,0.7316614451077365,,,0.8631,pathogenic,-0.08034607,neutral,-0.989615695,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712N,NP_000240:p.Trp712Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.39747,5.45068,6.136216920931679,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.3729,2.549,-21.9024,loss_of_function,-2.0805588296167,0.7164617965700711,,,0.943,pathogenic,-0.03033384,neutral,-1.050418137,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712P,NP_000240:p.Trp712Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.18513,10.64762,9.5739412675087,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.4111,2.549,-21.9024,loss_of_function,-3.07564078972333,0.5936179634479027,,,0.927,pathogenic,-0.018510455,neutral,-0.95484266,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712Q,NP_000240:p.Trp712Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.7351,5.13367,6.181135251047443,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2783,2.549,-5.1553,loss_of_function,-1.95510059671038,0.7319497371064413,,,0.9392,pathogenic,-0.114397751,destabilizing,-0.924610145,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712R,NP_000240:p.Trp712Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.19489,5.50646,6.563440017242385,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,2834358,Uncertain significance,1,85.01,H,-0.2364,2.549,-4.7078,loss_of_function,-2.25819372584675,0.6945325963393488,,,0.9421,pathogenic,-0.002234204,neutral,-1.026898429,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712S,NP_000240:p.Trp712Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.23851,5.63946,6.913071846722672,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,495764,Uncertain significance,1,85.01,H,-0.2655,2.549,-7.6146,loss_of_function,-2.0662783499576,0.7182247356348685,,,0.6601,pathogenic,-0.10200985,destabilizing,-1.050701548,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712T,NP_000240:p.Trp712Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.44741,4.26769,6.223277658428421,Destabilizing,Destabilizing,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.3011,2.549,-6.0297,loss_of_function,-2.03261321564421,0.7223807291182458,,,0.8065,pathogenic,-0.011601994,neutral,-1.028256317,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712V,NP_000240:p.Trp712Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47855,4.13571,5.505349092047617,Uncertain,Uncertain,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.2267,2.549,-4.0297,loss_of_function,-2.00608071844238,0.7256561916321342,,,0.779,pathogenic,0.027591391,neutral,-0.950766064,damaging,https://doi.org/10.1101/2022.10.22.513328 +W712Y,NP_000240:p.Trp712Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41054,1.97585,2.0577843653672225,Neutral,Uncertain,False,0.014,,,,,,,,,,6.0,,False,6.0,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,85.01,H,-0.1514,2.549,-4.3668,loss_of_function,-1.18038395641534,0.8275892577617779,,,0.7258,pathogenic,-0.005234387,neutral,-0.365904571,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713A,NP_000240:p.Lys713Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36268,0.45952,0.5378059761086187,Neutral,Neutral,False,0.019,0.06234,,,1.11406,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0155,2.3912,-5.188,loss_of_function,-1.59875707609748,0.7759406903497764,,,0.4621,ambiguous,0.016604882,neutral,-0.311916826,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713C,NP_000240:p.Lys713Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72877,1.15884,1.1549259013640527,Neutral,Neutral,False,0.019,0.01338,,,1.1375,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.1711,2.3912,-21.9352,loss_of_function,-1.03459960592801,0.8455864772281726,,,0.6651,pathogenic,0.016151651,neutral,-0.522338609,damaging,https://doi.org/10.1101/2022.10.22.513328 +K713D,NP_000240:p.Lys713Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30146,1.73401,0.9756245284818218,Neutral,Neutral,False,0.019,0.18262,,,0.77895,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.1421,2.3912,-8.6473,loss_of_function,-1.71480765030657,0.7616141344042284,,,0.7312,pathogenic,0.049673017,neutral,-0.492430594,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713E,NP_000240:p.Lys713Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46492,0.50714,0.4191631214346419,Neutral,Neutral,False,0.019,0.23176,,,1.36416,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0335,2.3912,-3.8401,loss_of_function,-1.34040827034117,0.8078341009973163,,,0.1834,benign,0.05719454,neutral,-0.365548684,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713F,NP_000240:p.Lys713Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0777,0.03912,-0.3056411218514815,Neutral,Neutral,False,0.019,0.09878,,,0.72269,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.45,H,-0.1042,2.3912,-8.6473,loss_of_function,-1.71610390977702,0.761454109915337,,,0.7945,pathogenic,0.032058994,neutral,-0.528522886,damaging,https://doi.org/10.1101/2022.10.22.513328 +K713G,NP_000240:p.Lys713Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37102,2.04388,1.6776134451068527,Uncertain,Neutral,False,0.019,0.07738,,,0.9428,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0872,2.3912,-7.6474,loss_of_function,-2.30049673317291,0.6893102490545244,,,0.5477,ambiguous,-0.002299978,neutral,-0.45629621,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713H,NP_000240:p.Lys713His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80948,0.78435,0.0357126845084221,Neutral,Neutral,False,0.019,-0.04576,,,0.98932,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0313,2.3912,-6.3255,loss_of_function,-1.05022874316616,0.8436570450771556,,,0.3356,benign,-0.053013409,neutral,-0.485391905,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713I,NP_000240:p.Lys713Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48169,-0.05578,-0.1090234163591824,Neutral,Neutral,False,0.019,0.08136,,,1.07794,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.45,H,-0.1393,2.3912,-21.9352,loss_of_function,-2.84265290926423,0.6223805432695071,,,0.4155,ambiguous,0.075350156,neutral,-0.613491816,damaging,https://doi.org/10.1101/2022.10.22.513328 +K713L,NP_000240:p.Lys713Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44027,0.17891,-0.3696337338605743,Neutral,Neutral,False,0.019,-0.01266,,,1.13265,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.45,H,-0.0548,2.3912,-5.6474,loss_of_function,-1.99429292616322,0.7271114060221777,,,0.3768,ambiguous,0.057139361,neutral,-0.647258534,damaging,https://doi.org/10.1101/2022.10.22.513328 +K713M,NP_000240:p.Lys713Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33076,0.8551,0.0586668103554355,Neutral,Neutral,False,0.019,-0.0011,,,0.93688,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.111,2.3912,-21.9352,loss_of_function,-1.72363299518395,0.760524637019263,,,0.2426,benign,0.00012432,neutral,-0.313707192,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713N,NP_000240:p.Lys713Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78747,1.42619,0.7027925033847165,Neutral,Neutral,False,0.019,0.07296,,,0.72272,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,"1786523, 951886","Uncertain significance, Uncertain significance","1, 1",87.45,H,-0.0352,2.3912,-5.4775,loss_of_function,-1.70590763752149,0.7627128496148211,,,0.5146,ambiguous,0.034992662,neutral,-0.287612216,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713P,NP_000240:p.Lys713Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33987,6.0983,3.5244111672509946,Uncertain,Uncertain,False,0.019,0.00944,,,1.11075,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.2074,2.3912,-8.6473,loss_of_function,-3.36592581231375,0.5577819958567094,,,0.7635,pathogenic,0.044377728,neutral,-0.31256623,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713Q,NP_000240:p.Lys713Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15321,0.55034,0.5021589562471093,Neutral,Neutral,False,0.019,0.04766,,,0.76232,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1786489,Uncertain significance,1,87.45,H,-0.0084,2.3912,-3.947,loss_of_function,-0.739399416723304,0.8820292269052039,,,0.1184,benign,-0.006900804,neutral,-0.304978667,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713R,NP_000240:p.Lys713Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47434,-0.38231,-0.0158327551085446,Neutral,Neutral,False,0.019,-0.45224,,,0.43525,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.45,H,0.0684,2.3912,-1.7648,gain_of_function,-0.311701382994829,0.9348289640006189,,,0.0856,benign,0.041533466,neutral,-0.218098803,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713S,NP_000240:p.Lys713Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90974,1.39592,0.8859852802864693,Neutral,Neutral,False,0.019,-0.0189,,,0.87344,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0271,2.3912,-5.4775,loss_of_function,-0.799081524374113,0.8746614128290149,,,0.5288,ambiguous,-0.031985207,neutral,-0.31688331,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713T,NP_000240:p.Lys713Thr,"hg19,3:g.37092011A>C",,,0.727,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53617,0.85476,0.5061223781570545,Neutral,Neutral,False,0.019,0.01124,,,0.74244,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,237331,Uncertain significance,2,87.45,H,-0.0449,2.3912,-6.6474,loss_of_function,-1.69963613949799,0.7634870721286553,,,0.2687,benign,-0.043709022,neutral,-0.282821328,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713V,NP_000240:p.Lys713Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00702,-0.12381,-0.0023811467506112,Neutral,Neutral,False,0.019,0.09464,,,1.13389,,,Uncertain,Uncertain,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,87.45,H,-0.0502,2.3912,-7.6474,loss_of_function,-2.13623633519444,0.7095883545039348,,,0.4093,ambiguous,-0.003971831,neutral,-0.365523416,neutral,https://doi.org/10.1101/2022.10.22.513328 +K713W,NP_000240:p.Lys713Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30116,-0.03163,-0.7455751604715644,Neutral,Neutral,False,0.019,0.12226,,,0.61314,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.45,H,-0.181,2.3912,-21.9352,loss_of_function,-2.82357844150954,0.6247353048144759,,,0.7718,pathogenic,0.067267879,neutral,-0.595819996,damaging,https://doi.org/10.1101/2022.10.22.513328 +K713Y,NP_000240:p.Lys713Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.767,-0.07313,-0.2526869112852498,Neutral,Neutral,False,0.019,0.12248,,,0.93135,,,Uncertain,Neutral,Uncertain,64.1,,False,64.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.45,H,-0.084,2.3912,-7.6474,loss_of_function,-1.69419060418315,0.76415932874499,,,0.6267,pathogenic,-0.028099189,neutral,-0.526138747,damaging,https://doi.org/10.1101/2022.10.22.513328 +W714A,NP_000240:p.Trp714Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69097,1.71259,2.198191337452835,Neutral,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.4301,1.5768,-21.9601,loss_of_function,-2.48548501851567,0.6664732658056602,,,0.7069,pathogenic,0.04680464,neutral,-0.036068194,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714C,NP_000240:p.Trp714Cys,"hg19,3:g.37092015G>T, hg38,3:g.37050524G>C, hg38,3:g.37050524G>T",,,"0.752, 0.816","cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37884,2.72483,2.619185018152641,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3659,1.5768,-21.9601,loss_of_function,-2.77019236216469,0.6313258680896687,,,0.8636,pathogenic,0.081828765,neutral,-0.439542941,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714D,NP_000240:p.Trp714Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70644,2.07211,2.717122491518798,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3815,1.5768,-7.6724,loss_of_function,-2.36950521436162,0.6807910851192724,,,0.8693,pathogenic,0.051923975,neutral,-0.202072226,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714E,NP_000240:p.Trp714Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.24109,2.26837,2.289324674648975,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.39,1.5768,-5.5025,loss_of_function,-2.35933299250924,0.6820468557731607,,,0.8521,pathogenic,0.003583238,neutral,-0.190272805,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714F,NP_000240:p.Trp714Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56506,0.64422,0.9554366960208308,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.2068,1.5768,-7.0874,loss_of_function,-2.56318254805399,0.6568814304239923,,,0.4756,ambiguous,0.026819805,neutral,0.03593521,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714G,NP_000240:p.Trp714Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.62383,3.12483,3.5294074701075995,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1786588,Uncertain significance,1,89.06,H,-0.3475,1.5768,-8.6723,loss_of_function,-3.27356055978748,0.5691845758677149,,,0.4542,ambiguous,-0.038815881,neutral,-0.209936043,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714H,NP_000240:p.Trp714His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.15905,1.83333,1.4057163090113105,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3298,1.5768,-4.585,loss_of_function,-1.23655677066451,0.820654669359745,,,0.7558,pathogenic,-0.029268612,neutral,-0.027478373,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714I,NP_000240:p.Trp714Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21847,1.00204,1.0525413528443002,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3482,1.5768,-8.6723,loss_of_function,-2.86494340556028,0.6196287598818263,,,0.8342,pathogenic,0.063609702,neutral,-0.277874197,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714K,NP_000240:p.Trp714Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14539,1.97857,2.026277022524174,Neutral,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.4005,1.5768,-5.213,loss_of_function,-2.18909670958823,0.7030626900148405,,,0.8621,pathogenic,0.075730488,neutral,-0.196802543,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714L,NP_000240:p.Trp714Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.93649,1.90374,0.928323397286916,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.2965,1.5768,-6.0874,loss_of_function,-2.10323864746026,0.7136619510597406,,,0.6284,pathogenic,0.07035191,neutral,-0.24488408,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714M,NP_000240:p.Trp714Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.8322,1.84932,1.3525043557656171,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3218,1.5768,-8.6723,loss_of_function,-2.76678110738473,0.631746990800889,,,0.7797,pathogenic,-0.063701497,neutral,-0.159497522,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714N,NP_000240:p.Trp714Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.3103,2.32789,2.0639526539468944,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3897,1.5768,-7.6724,loss_of_function,-3.30117325196307,0.5657757622366162,,,0.823,pathogenic,0.014198853,neutral,-0.225664937,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714P,NP_000240:p.Trp714Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94755,7.44456,6.946164385185548,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.5008,1.5768,-21.9601,loss_of_function,-2.8804150564868,0.6177187695687286,,,0.975,pathogenic,0.011428989,neutral,-0.918770766,damaging,https://doi.org/10.1101/2022.10.22.513328 +W714Q,NP_000240:p.Trp714Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.68956,2.23537,2.066811753601661,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3776,1.5768,-7.0874,loss_of_function,-2.37342975069934,0.680306597301906,,,0.8463,pathogenic,0.011629121,neutral,-0.12317032,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714R,NP_000240:p.Trp714Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51058,1.66361,1.6130350163539031,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,820798,Uncertain significance,2,89.06,H,-0.3221,1.5768,-3.972,loss_of_function,-0.673570718119556,0.8901558435962166,,,0.8164,pathogenic,0.094007919,neutral,-0.047280719,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714S,NP_000240:p.Trp714Ser,"hg38,3:g.37050523G>C",,,0.884,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.59443,2.27415,2.8388767060592404,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3523,1.5768,-7.0874,loss_of_function,-1.91521686317346,0.736873422695489,,,0.5977,pathogenic,-0.019313093,neutral,-0.222753967,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714T,NP_000240:p.Trp714Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34351,1.44286,2.271925763333713,Uncertain,Uncertain,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.404,1.5768,-8.6723,loss_of_function,-2.34980092117556,0.6832235992246224,,,0.7541,pathogenic,0.04387407,neutral,-0.179084193,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714V,NP_000240:p.Trp714Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76308,1.29898,1.2983310329271514,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.3296,1.5768,-6.6724,loss_of_function,-3.23763276630656,0.5736198968199155,,,0.7364,pathogenic,0.047426935,neutral,-0.289071844,neutral,https://doi.org/10.1101/2022.10.22.513328 +W714Y,NP_000240:p.Trp714Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81177,0.62755,0.9744018457618944,Neutral,Neutral,False,0.043,,,,,,,Uncertain,Uncertain,Uncertain,45.6,,False,45.6,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.06,H,-0.2485,1.5768,-5.8651,loss_of_function,-1.19019231686084,0.8263784061514845,,,0.5359,ambiguous,0.014256754,neutral,0.007972368,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715A,NP_000240:p.Thr715Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59808,-0.31939,1.06657960161382,Neutral,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,87.68,H,0.0354,2.8182,-2.8606,gain_of_function,-0.080729733605607,0.9633426381410697,,,0.0857,benign,0.03988827,neutral,-0.040394674,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715C,NP_000240:p.Thr715Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77632,-0.15918,1.1204694275247484,Neutral,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,87.68,H,-0.0302,2.8182,-8.6933,loss_of_function,-2.07491162104819,0.7171589499451779,,,0.3731,ambiguous,0.033067177,neutral,-0.234095804,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715D,NP_000240:p.Thr715Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70899,3.21939,2.37191949803653,Uncertain,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,-,uncertain,neutral,,,,87.68,H,-0.1099,2.8182,-8.6933,loss_of_function,-1.67051728279039,0.7670818232320854,,,0.4053,ambiguous,0.029171836,neutral,-0.074958698,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715E,NP_000240:p.Thr715Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.08297,3.48673,1.8505783385663788,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0802,2.8182,-7.6934,loss_of_function,-1.70816904211872,0.7624336770239181,,,0.2696,benign,0.054060783,neutral,-0.206335061,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715F,NP_000240:p.Thr715Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.81805,5.13435,0.2320180100554553,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.1694,2.8182,-21.9812,loss_of_function,-2.15232629036144,0.7076020339326459,,,0.2921,benign,0.06261473,neutral,-0.617068432,damaging,https://doi.org/10.1101/2022.10.22.513328 +T715G,NP_000240:p.Thr715Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43999,2.38197,2.9083237448939583,Uncertain,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,87.68,H,-0.1357,2.8182,-21.9812,loss_of_function,-3.16927869589866,0.5820582731095523,,,0.2887,benign,-0.030253179,neutral,-0.118320667,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715H,NP_000240:p.Thr715His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.93184,4.58197,1.0953205057994393,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0819,2.8182,-8.6933,loss_of_function,-2.5907006024042,0.6534842999242276,,,0.2458,benign,0.069610204,neutral,-0.42069762,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715I,NP_000240:p.Thr715Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.87225,-0.99728,-0.9962178973372844,Neutral,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0059,2.8182,-5.8861,loss_of_function,-0.460658107191171,0.9164401119229071,,,0.1526,benign,0.067929994,neutral,-0.078006276,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715K,NP_000240:p.Thr715Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74852,7.63061,2.336747156462564,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0491,2.8182,-3.1389,loss_of_function,-0.546663727309167,0.9058226347010191,,,0.1591,benign,0.127315337,stabilizing,-0.328016534,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715L,NP_000240:p.Thr715Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76719,0.33265,-0.4903315537247599,Neutral,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.059,2.8182,-6.1085,loss_of_function,-0.665920467266118,0.8911002744841827,,,0.1073,benign,0.062906705,neutral,-0.288645371,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715M,NP_000240:p.Thr715Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56024,1.57313,0.5431780394875354,Neutral,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0202,2.8182,-4.993,loss_of_function,-1.13592596640675,0.8330776397489028,,,0.0813,benign,0.011687999,neutral,-0.022851745,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715N,NP_000240:p.Thr715Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48211,1.97347,1.4065146480636372,Uncertain,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,-,uncertain,neutral,,,,87.68,H,-0.0347,2.8182,-5.6935,loss_of_function,-0.716518240777465,0.8848539302685613,,,0.1243,benign,-0.040167351,neutral,-0.256249145,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715P,NP_000240:p.Thr715Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0084,8.72007,4.030740919244199,Uncertain,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,-,-,uncertain,neutral,,,,87.68,H,-0.2265,2.8182,-21.9812,loss_of_function,-3.16927869589866,0.5820582731095523,,,0.4037,ambiguous,0.062540732,neutral,-0.79255845,damaging,https://doi.org/10.1101/2022.10.22.513328 +T715Q,NP_000240:p.Thr715Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.92738,2.36973,1.3347403917889746,Uncertain,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.0288,2.8182,-2.6935,loss_of_function,-0.747661578355496,0.8810092550380979,,,0.1883,benign,-0.039472931,neutral,-0.163762839,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715R,NP_000240:p.Thr715Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.76036,9.49082,1.3318290425455748,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.065,2.8182,-5.6935,loss_of_function,-0.583837125736082,0.9012335426101019,,,0.1324,benign,-0.029010552,neutral,0.127785538,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715S,NP_000240:p.Thr715Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2735,1.53912,2.0704247237195994,Neutral,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,neutral,,,DOWN,-,neutral,neutral,,,,87.68,H,0.0623,2.8182,-4.6935,gain_of_function,-1.30691168990625,0.8119692863409133,,,0.1248,benign,0.04353513,neutral,-0.137663203,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715V,NP_000240:p.Thr715Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.33155,-2.01939,-1.174198921296662,Uncertain,Neutral,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,0.0172,2.8182,-3.7866,gain_of_function,-0.966835036463757,0.8539520790545491,,,0.1225,benign,-0.059268046,neutral,0.014838296,neutral,https://doi.org/10.1101/2022.10.22.513328 +T715W,NP_000240:p.Thr715Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),14.37709,9.37449,1.1196666813031868,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.1623,2.8182,-21.9812,loss_of_function,-2.80945213152638,0.6264792114832467,,,0.5989,pathogenic,0.043374592,neutral,-0.685032273,damaging,https://doi.org/10.1101/2022.10.22.513328 +T715Y,NP_000240:p.Thr715Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.48545,8.00816,1.073714609063098,Destabilizing,Uncertain,False,0.099,,,,,,,,,,0.0,,False,0.0,,uncertain,,,UP,-,neutral,neutral,,,,87.68,H,-0.1709,2.8182,-21.9812,loss_of_function,-2.80945213152638,0.6264792114832467,,,0.3091,benign,0.044301816,neutral,-0.700068299,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716A,NP_000240:p.Val716Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.64873,1.90782,2.471436370007286,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,650453,Uncertain significance,1,90.0,I,-0.1149,1.8145,-8.6933,loss_of_function,-1.32798869874492,0.8093673091568282,,,0.2345,benign,0.034958684,neutral,-0.609512422,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716C,NP_000240:p.Val716Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73704,1.75782,2.4133633987600867,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.2106,1.8145,-21.9812,loss_of_function,-2.75170005303061,0.6336087615882776,,,0.8654,pathogenic,-0.0670374,neutral,-0.163404746,neutral,https://doi.org/10.1101/2022.10.22.513328 +V716D,NP_000240:p.Val716Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79141,3.36497,3.707964617878053,Destabilizing,Destabilizing,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.3493,1.8145,-21.9812,loss_of_function,-2.45695660338517,0.6699951263237179,,,0.9452,pathogenic,-0.184216291,destabilizing,-0.96921471,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716E,NP_000240:p.Val716Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53714,2.33367,3.157151093434632,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.0,I,-0.3066,1.8145,-21.9812,loss_of_function,-2.03345920464526,0.7222762909555269,,,0.7838,pathogenic,-0.021797008,neutral,-1.055044198,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716F,NP_000240:p.Val716Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.40685,1.63095,2.0256701386620306,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.192,1.8145,-8.6933,loss_of_function,-2.27859688578269,0.6920138064558834,,,0.5648,pathogenic,-0.08069922,neutral,-1.026156975,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716G,NP_000240:p.Val716Gly,"hg38,3:g.37050529T>G",,,0.854,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.62612,4.09558,4.488027762316746,Destabilizing,Destabilizing,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.3085,1.8145,-21.9812,loss_of_function,-3.43009539817616,0.5498601982428164,,,0.5555,ambiguous,-0.14127621,destabilizing,-1.007192688,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716H,NP_000240:p.Val716His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.33237,2.64014,2.744556564908161,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.2845,1.8145,-8.6933,loss_of_function,-2.3362998312545,0.6848903218703152,,,0.9457,pathogenic,0.023817786,neutral,-1.083450709,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716I,NP_000240:p.Val716Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3468,-0.44048,0.1268417198601323,Neutral,Neutral,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.0179,1.8145,-2.3185,loss_of_function,-0.345294697182288,0.9306818367814473,,,0.0905,benign,-0.069630192,neutral,-0.098527801,neutral,https://doi.org/10.1101/2022.10.22.513328 +V716K,NP_000240:p.Val716Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.01073,4.57823,3.950417455002362,Destabilizing,Destabilizing,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.2726,1.8145,-7.6934,loss_of_function,-1.44773570253253,0.7945844253945816,,,0.8487,pathogenic,-0.038354478,neutral,-1.013801401,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716L,NP_000240:p.Val716Leu,"hg38,3:g.37050528G>T",,1.99131785416e-05,0.439,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13698,0.20782,0.1502572413465402,Neutral,Neutral,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,1520625,Conflicting classifications of pathogenicity,1,90.0,I,-0.0861,1.8145,-2.9386,loss_of_function,-0.446579977131257,0.9181780707334225,,,0.4552,ambiguous,0.0510666,neutral,-0.43574784,neutral,https://doi.org/10.1101/2022.10.22.513328 +V716M,NP_000240:p.Val716Met,"hg19,3:g.37050528G>A, hg19,3:g.37092019G>A, hg38,3:g.37050528G>A",0.0018468984842695,0.0011828428053686,0.523,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0344,0.39728,1.0839234702170846,Neutral,Neutral,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,41639,Benign,3,90.0,I,-0.1165,1.8145,-7.1085,loss_of_function,-2.19050424718611,0.7028889281331874,,,0.2091,benign,0.012816618,neutral,-0.645073031,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716N,NP_000240:p.Val716Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89116,3.09762,2.508406046216603,Destabilizing,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.2642,1.8145,-7.6934,loss_of_function,-1.90779411229366,0.7377897684910534,,,0.7554,pathogenic,-0.003292872,neutral,-1.025256194,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716P,NP_000240:p.Val716Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.8525,11.32823,7.180878712467278,Destabilizing,Destabilizing,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.387,1.8145,-21.9812,loss_of_function,-3.43009539817616,0.5498601982428164,,,0.9774,pathogenic,-0.175080363,destabilizing,-1.091123886,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716Q,NP_000240:p.Val716Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29231,1.77619,2.427333062110315,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.0,I,-0.2311,1.8145,-5.1085,loss_of_function,-1.63583945477172,0.7713628347356085,,,0.7753,pathogenic,0.015196995,neutral,-0.981984356,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716R,NP_000240:p.Val716Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.8442,4.68878,2.891471213198656,Destabilizing,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.3666,1.8145,-21.9812,loss_of_function,-3.17684714428677,0.5811239408152726,,,0.8096,pathogenic,-0.053682092,neutral,-1.049217245,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716S,NP_000240:p.Val716Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.10459,3.03571,3.3852006960406587,Destabilizing,Destabilizing,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.2864,1.8145,-21.9812,loss_of_function,-2.3414749616324,0.6842514470057159,,,0.4312,ambiguous,0.051831241,neutral,-0.743548864,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716T,NP_000240:p.Val716Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.44338,1.21156,2.107775302601315,Uncertain,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.0,I,-0.114,1.8145,-4.7866,loss_of_function,-0.875720820457272,0.8652002173937854,,,0.1665,benign,-0.037477439,neutral,0.01381165,neutral,https://doi.org/10.1101/2022.10.22.513328 +V716W,NP_000240:p.Val716Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),17.84819,6.72857,2.719983321247308,Destabilizing,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.3004,1.8145,-21.9812,loss_of_function,-3.02870641238838,0.5994120578523573,,,0.9764,pathogenic,-0.219878895,destabilizing,-1.055173747,damaging,https://doi.org/10.1101/2022.10.22.513328 +V716Y,NP_000240:p.Val716Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.97431,4.1483,2.989882991809718,Destabilizing,Uncertain,False,0.076,,,,,,,,,,0.7,,False,0.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.0,I,-0.3033,1.8145,-21.9812,loss_of_function,-3.02870641238838,0.5994120578523573,,,0.9357,pathogenic,0.028964499,neutral,-1.107733164,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717A,NP_000240:p.Glu717Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11104,-0.30544,0.0799246104984846,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.2319,0.9506,-21.9847,loss_of_function,-3.73307279866668,0.5124573442893015,,,0.6725,pathogenic,0.24153447,stabilizing,-0.681133947,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717C,NP_000240:p.Glu717Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.11157,0.42959,0.7793237202474462,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.3012,0.9506,-21.9847,loss_of_function,-3.01685795616751,0.6008747612648441,,,0.9851,pathogenic,0.267924775,stabilizing,-0.864079808,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717D,NP_000240:p.Glu717Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.46649,1.0966,0.7392188513828074,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,487010,Uncertain significance,2,90.18,I,-0.1217,0.9506,-7.112,loss_of_function,-2.72673891947734,0.636690237735659,,,0.9245,pathogenic,0.08607779,neutral,-0.895743663,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717F,NP_000240:p.Glu717Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33258,-0.42007,-0.4444128486096632,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2789,0.9506,-21.9847,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.9948,pathogenic,-0.086059569,destabilizing,-1.001727547,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717G,NP_000240:p.Glu717Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40182,1.34286,1.158860093415431,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.2576,0.9506,-21.9847,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.7316,pathogenic,0.268715701,stabilizing,-0.866521877,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717H,NP_000240:p.Glu717His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18066,-0.24728,0.0319388692942479,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2023,0.9506,-8.6968,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.9707,pathogenic,0.177659716,stabilizing,-0.581069104,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717I,NP_000240:p.Glu717Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48674,-0.60102,-0.5567258795438418,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2842,0.9506,-21.9847,loss_of_function,-3.87090808039857,0.4954414450707034,,,0.9674,pathogenic,-0.046953228,neutral,-0.974807876,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717K,NP_000240:p.Glu717Lys,"hg19,3:g.37092022G>A, hg38,3:g.37050531G>A",,,0.907,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.17597,-0.37721,0.1151685587791506,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,820788,Uncertain significance,2,90.18,I,-0.1699,0.9506,-5.527,loss_of_function,-2.37179875461318,0.6805079453506735,,,0.7179,pathogenic,0.163581109,stabilizing,-0.487600193,neutral,https://doi.org/10.1101/2022.10.22.513328 +E717L,NP_000240:p.Glu717Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.23551,0.07653,-0.6038219169091946,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2864,0.9506,-21.9847,loss_of_function,-2.9472680425929,0.6094657035920764,,,0.9715,pathogenic,-0.365490071,destabilizing,-0.981554713,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717M,NP_000240:p.Glu717Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25095,-0.12517,-0.1806072622667459,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2352,0.9506,-21.9847,loss_of_function,-3.87090808039857,0.4954414450707034,,,0.9528,pathogenic,0.198655652,stabilizing,-0.992677863,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717N,NP_000240:p.Glu717Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32559,0.65408,0.4727981812725806,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.2581,0.9506,-21.9847,loss_of_function,-2.10748702481538,0.7131374847546773,,,0.9374,pathogenic,0.227407659,stabilizing,-0.8688253,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717P,NP_000240:p.Glu717Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.79918,7.45442,5.705926581300456,Destabilizing,Destabilizing,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.3889,0.9506,-21.9847,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.9941,pathogenic,0.075950497,neutral,-0.992184201,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717Q,NP_000240:p.Glu717Gln,"hg19,3:g.37092022G>C, hg38,3:g.37050531G>C",,,0.856,"cBioPortal,COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50179,-0.09456,0.2922496597688501,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.1068,0.9506,-2.8641,loss_of_function,-1.43259758031402,0.7964532412651801,,,0.3733,ambiguous,0.078305942,neutral,-0.10423723,neutral,https://doi.org/10.1101/2022.10.22.513328 +E717R,NP_000240:p.Glu717Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.68827,-0.36054,-0.2973226750322111,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2466,0.9506,-8.6968,loss_of_function,-2.4198283933721,0.674578639861117,,,0.8063,pathogenic,0.236546673,stabilizing,-0.431692259,neutral,https://doi.org/10.1101/2022.10.22.513328 +E717S,NP_000240:p.Glu717Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6212,0.65,0.6348151140772081,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.1694,0.9506,-7.112,loss_of_function,-2.32179518929932,0.6866809339879824,,,0.7388,pathogenic,0.219388815,stabilizing,-0.875293434,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717T,NP_000240:p.Glu717Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78164,-0.19524,0.3663152043681672,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.18,I,-0.1853,0.9506,-7.112,loss_of_function,-2.65300489792717,0.6457927742119155,,,0.8387,pathogenic,0.257956347,stabilizing,-0.888037787,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717V,NP_000240:p.Glu717Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42176,-0.18673,-0.3632947696766753,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.18,I,-0.2451,0.9506,-21.9847,loss_of_function,-3.87090808039857,0.4954414450707034,,,0.9076,pathogenic,0.141433574,stabilizing,-0.961319772,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717W,NP_000240:p.Glu717Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56939,-0.35748,-0.8712704988807418,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2889,0.9506,-21.9847,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.9983,pathogenic,-0.024081462,neutral,-0.974009277,damaging,https://doi.org/10.1101/2022.10.22.513328 +E717Y,NP_000240:p.Glu717Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33514,-0.31429,-0.3435619287657304,Neutral,Neutral,False,0.066,,,,,,,Uncertain,Uncertain,Uncertain,45.7,,False,45.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.18,I,-0.2797,0.9506,-21.9847,loss_of_function,-4.27835418370103,0.44514182842907346,,,0.9899,pathogenic,0.077389167,neutral,-0.998746377,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718A,NP_000240:p.His718Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24075,0.96361,1.053709960731675,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.2038,0.9996,-21.9847,loss_of_function,-3.70646334336108,0.5157423073557433,,,0.9541,pathogenic,0.142145567,stabilizing,-0.611512186,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718C,NP_000240:p.His718Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16238,0.92823,1.3603824362426076,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.2583,0.9996,-21.9847,loss_of_function,-3.70646334336108,0.5157423073557433,,,0.6447,pathogenic,0.134769704,stabilizing,-0.278582705,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718D,NP_000240:p.His718Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61369,1.59354,1.0807399385336505,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.167,0.9996,-5.527,loss_of_function,-3.41475255775102,0.5517542867745832,,,0.9145,pathogenic,0.182005597,stabilizing,-0.795369095,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718E,NP_000240:p.His718Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.118,1.40306,1.1392784354320111,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.1947,0.9996,-8.6968,loss_of_function,-2.75930232226906,0.6326702540772201,,,0.9003,pathogenic,0.060432818,neutral,-0.314155431,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718F,NP_000240:p.His718Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.78319,-0.33946,-0.4671023305034166,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.1495,0.9996,-7.112,loss_of_function,-1.43082890866894,0.7966715854952302,,,0.6778,pathogenic,0.037195294,neutral,-0.12508128,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718G,NP_000240:p.His718Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.40669,2.27517,1.8799634750565,Uncertain,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.2864,0.9996,-21.9847,loss_of_function,-4.2482917592026,0.448853063891464,,,0.9184,pathogenic,0.240361738,stabilizing,-0.788942693,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718I,NP_000240:p.His718Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.0883,0.08605,0.3240038323064953,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.2222,0.9996,-8.6968,loss_of_function,-3.80859390192206,0.5031341908432155,,,0.9442,pathogenic,0.174514037,stabilizing,-1.017196004,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718K,NP_000240:p.His718Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64375,0.31054,0.9062374383045336,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.1789,0.9996,-8.6968,loss_of_function,-3.45889767735799,0.5463045289419965,,,0.8149,pathogenic,0.009392647,neutral,-0.257174556,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718L,NP_000240:p.His718Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.12092,-0.01429,0.0772951689387152,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.1858,0.9996,-8.6968,loss_of_function,-2.80572020543089,0.6269399213793937,,,0.8108,pathogenic,0.246200993,stabilizing,-0.922743428,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718M,NP_000240:p.His718Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35173,0.84388,0.6083949906525382,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.2037,0.9996,-21.9847,loss_of_function,-3.80859390192206,0.5031341908432155,,,0.9194,pathogenic,0.084606828,neutral,-0.307129452,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718N,NP_000240:p.His718Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78266,0.63469,0.8110135675663516,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.121,0.9996,-4.449,loss_of_function,-2.05238905555188,0.7199393825007188,,,0.3339,benign,-0.021429892,neutral,0.037555202,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718P,NP_000240:p.His718Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.19984,8.4119,5.517517862074737,Destabilizing,Destabilizing,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90071,Likely pathogenic,3,89.53,I,-0.367,0.9996,-21.9847,loss_of_function,-4.2482917592026,0.448853063891464,,,0.9795,pathogenic,-0.73660856,destabilizing,-1.026032638,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718Q,NP_000240:p.His718Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06752,0.17517,1.0503300493334884,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2717365,Uncertain significance,1,89.53,I,-0.091,0.9996,-6.112,loss_of_function,-2.46295357267252,0.6692547946486316,,,0.7715,pathogenic,0.108539793,neutral,-0.234273788,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718R,NP_000240:p.His718Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19865,0.42177,0.449673762263631,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,820806,Uncertain significance,1,89.53,I,-0.1642,0.9996,-7.112,loss_of_function,-2.89080277200752,0.6164363960124729,,,0.5931,pathogenic,0.134020824,stabilizing,-0.159642088,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718S,NP_000240:p.His718Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.03853,1.41293,1.502117706564582,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.1338,0.9996,-7.112,loss_of_function,-2.30412258429051,0.6888626342172816,,,0.8727,pathogenic,0.108832979,neutral,-0.435867145,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718T,NP_000240:p.His718Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40837,0.93265,1.079374277622509,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.1868,0.9996,-8.6968,loss_of_function,-2.95305374390709,0.6087514531531891,,,0.9046,pathogenic,0.08235662,neutral,-0.438829401,neutral,https://doi.org/10.1101/2022.10.22.513328 +H718V,NP_000240:p.His718Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07116,-0.08673,0.3779975577533878,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.53,I,-0.2464,0.9996,-21.9847,loss_of_function,-3.80859390192206,0.5031341908432155,,,0.9123,pathogenic,0.264203863,stabilizing,-0.880872411,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718W,NP_000240:p.His718Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65688,0.28776,-0.5911047001644104,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.53,I,-0.2417,0.9996,-21.9847,loss_of_function,-2.70947197117458,0.6388218592511431,,,0.7781,pathogenic,0.326739753,stabilizing,-0.539991831,damaging,https://doi.org/10.1101/2022.10.22.513328 +H718Y,NP_000240:p.His718Tyr,"hg38,3:g.37050534C>T",0.0209248996751385,0.0056348011691715,0.898,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35171,-0.45646,-0.3357918906937696,Neutral,Neutral,False,0.119,,,,,,,Uncertain,Uncertain,Uncertain,50.2,,False,50.2,,neutral,neutral,neutral,UP,-,neutral,neutral,36547,Benign,3,89.53,I,-0.0901,0.9996,-5.2375,loss_of_function,-1.28272892343321,0.8149546723172887,,,0.2246,benign,0.144745416,stabilizing,-0.185199046,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719A,NP_000240:p.Ile719Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43216,3.17891,2.9446834408057034,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.1793,1.7494,-5.375,loss_of_function,-0.703586994761962,0.8864503051314118,,,0.1885,benign,0.065174839,neutral,-0.072435534,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719C,NP_000240:p.Ile719Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.28499,3.18878,2.9774186267968448,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.1711,1.7494,-7.6969,loss_of_function,-0.810814249912458,0.8732129964815352,,,0.5129,ambiguous,0.066377361,neutral,0.088152829,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719D,NP_000240:p.Ile719Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.48401,4.52279,3.4327814946136845,Destabilizing,Destabilizing,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.3881,1.7494,-21.9847,loss_of_function,-2.10987089672679,0.7128431934550556,,,0.6843,pathogenic,0.261668351,stabilizing,-0.539438334,damaging,https://doi.org/10.1101/2022.10.22.513328 +I719E,NP_000240:p.Ile719Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.08131,4.05748,2.952980085994943,Destabilizing,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.369,1.7494,-21.9847,loss_of_function,-2.10987089672679,0.7128431934550556,,,0.5821,pathogenic,0.141807617,stabilizing,-0.347298039,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719F,NP_000240:p.Ile719Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53771,1.73401,1.709294151740959,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.86,I,-0.225,1.7494,-21.9847,loss_of_function,-1.41397817976615,0.7987518243220897,,,0.1755,benign,0.261175666,stabilizing,-0.721989153,damaging,https://doi.org/10.1101/2022.10.22.513328 +I719G,NP_000240:p.Ile719Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99428,4.41088,4.608757371045265,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.3547,1.7494,-21.9847,loss_of_function,-2.27766796619675,0.6921284824797427,,,0.485,ambiguous,0.202519484,stabilizing,-0.293886393,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719H,NP_000240:p.Ile719His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.6586,3.46633,2.350977149441992,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.3546,1.7494,-21.9847,loss_of_function,-1.95823646702012,0.7315626108751697,,,0.4623,ambiguous,0.1439526,stabilizing,-0.231397305,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719K,NP_000240:p.Ile719Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34114,3.93912,2.966280545223279,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.86,I,-0.2937,1.7494,-8.6968,loss_of_function,-2.27766796619675,0.6921284824797427,,,0.3742,ambiguous,-0.035149333,neutral,-0.132438474,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719L,NP_000240:p.Ile719Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19357,0.55102,1.0460744087056622,Neutral,Neutral,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,-,-,uncertain,neutral,525695,Uncertain significance,2,89.86,I,-0.0555,1.7494,-3.6095,loss_of_function,-0.251985986560704,0.9422008876093955,,,0.1118,benign,0.049472794,neutral,-0.10086973,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719M,NP_000240:p.Ile719Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29889,2.1068,1.820452707668555,Uncertain,Neutral,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,-,-,uncertain,neutral,1053041,Uncertain significance,1,89.86,I,-0.0871,1.7494,-8.6968,loss_of_function,-1.45138293233746,0.7941341713376524,,,0.0999,benign,0.206352746,stabilizing,-0.302595244,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719N,NP_000240:p.Ile719Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53328,4.12993,2.737894023844277,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.2333,1.7494,-8.6968,loss_of_function,-2.10987089672679,0.7128431934550556,,,0.2688,benign,0.179983221,stabilizing,-0.222690358,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719P,NP_000240:p.Ile719Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.9233,8.79252,6.997851045493096,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.4081,1.7494,-21.9847,loss_of_function,-2.27766796619675,0.6921284824797427,,,0.885,pathogenic,-0.000179905,neutral,-1.043083071,damaging,https://doi.org/10.1101/2022.10.22.513328 +I719Q,NP_000240:p.Ile719Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.75426,2.8068,2.622540308799066,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.3287,1.7494,-21.9847,loss_of_function,-2.10987089672679,0.7128431934550556,,,0.4444,ambiguous,0.047526555,neutral,-0.020168144,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719R,NP_000240:p.Ile719Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.51362,3.80238,2.426067252037202,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.86,I,-0.3124,1.7494,-7.112,loss_of_function,-2.27766796619675,0.6921284824797427,,,0.2719,benign,0.069212054,neutral,-0.061603037,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719S,NP_000240:p.Ile719Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.01699,4.07993,3.671448220772926,Destabilizing,Destabilizing,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.86,I,-0.2368,1.7494,-8.6968,loss_of_function,-1.53637292197223,0.7836420746839962,,,0.2099,benign,0.107586219,neutral,-0.134612297,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719T,NP_000240:p.Ile719Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.04421,2.08537,2.6008317915934835,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,230725,Uncertain significance,2,89.86,I,-0.1332,1.7494,-4.697,loss_of_function,-1.04094291684213,0.8448033893433388,,,0.0923,benign,0.067967715,neutral,-0.017317761,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719V,NP_000240:p.Ile719Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14131,0.50238,1.047576483239161,Neutral,Neutral,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,186721,Conflicting classifications of pathogenicity,1,89.86,I,-0.0011,1.7494,-0.7722,loss_of_function,-0.0426739248471075,0.968040664643286,,,0.0504,benign,0.089029189,neutral,0.075411314,neutral,https://doi.org/10.1101/2022.10.22.513328 +I719W,NP_000240:p.Ile719Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.90397,2.84558,1.94602597312572,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.86,I,-0.3139,1.7494,-21.9847,loss_of_function,-1.46660326483895,0.7922552065278828,,,0.7625,pathogenic,0.192154014,stabilizing,-0.98033963,damaging,https://doi.org/10.1101/2022.10.22.513328 +I719Y,NP_000240:p.Ile719Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.60828,2.53333,2.1563885679493286,Uncertain,Uncertain,True,0.183,,,,,,,,,,9.6,,True,9.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.86,I,-0.255,1.7494,-8.6968,loss_of_function,-1.40604972111638,0.7997306002323513,,,0.5046,ambiguous,0.227892747,stabilizing,-0.525363956,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720A,NP_000240:p.Val720Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.39574,2.8381,3.014111437115247,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1392850,Uncertain significance,1,90.87,I,-0.1101,1.8674,-8.6968,loss_of_function,-1.72377492123315,0.7605071161108328,,,0.4325,ambiguous,0.179264555,stabilizing,-0.999422835,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720C,NP_000240:p.Val720Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.70652,2.70884,2.7453923063012384,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,I,-0.1379,1.8674,-8.6968,loss_of_function,-1.59704767373185,0.7761517177297921,,,0.7357,pathogenic,0.233508771,stabilizing,-0.730526605,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720D,NP_000240:p.Val720Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.30708,3.79558,4.150761803341688,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1786853,Uncertain significance,1,90.87,I,-0.3445,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.9229,pathogenic,-1.627305029,destabilizing,-1.029567276,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720E,NP_000240:p.Val720Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.71938,3.71565,3.4850646644061865,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.87,I,-0.3018,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.8712,pathogenic,-1.662116676,destabilizing,-1.052467585,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720F,NP_000240:p.Val720Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90132,1.26224,0.9545199122929912,Neutral,Neutral,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.1641,1.8674,-4.1734,loss_of_function,-1.50180901993113,0.7879090219150894,,,0.1913,benign,0.300196784,stabilizing,-0.665558967,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720G,NP_000240:p.Val720Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.38519,4.56395,5.282679685295337,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90076,Conflicting classifications of pathogenicity,1,90.87,I,-0.3037,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.5681,pathogenic,-0.533967023,destabilizing,-1.051415579,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720H,NP_000240:p.Val720His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.94339,4.02653,2.193327275251754,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.3474,1.8674,-21.9847,loss_of_function,-1.90184460607509,0.7385242408042636,,,0.894,pathogenic,-0.203477232,destabilizing,-1.040707952,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720I,NP_000240:p.Val720Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.18285,0.08435,0.2459743358985139,Neutral,Neutral,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,1786844,Uncertain significance,1,90.87,I,-0.0115,1.8674,-2.0105,loss_of_function,-0.0501391624912919,0.9671190738154498,,,0.068,benign,-0.031404713,neutral,0.067936822,neutral,https://doi.org/10.1101/2022.10.22.513328 +V720K,NP_000240:p.Val720Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.65442,7.87075,5.359430952218052,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.3407,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.903,pathogenic,-1.565646098,destabilizing,-1.005041461,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720L,NP_000240:p.Val720Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.96274,0.72755,0.1817498171423409,Neutral,Neutral,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.072,1.8674,-1.1195,loss_of_function,-0.0618222867613146,0.9656767807926535,,,0.098,benign,-0.100888513,destabilizing,-0.107384073,neutral,https://doi.org/10.1101/2022.10.22.513328 +V720M,NP_000240:p.Val720Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07077,2.2102,0.8321430093185705,Uncertain,Neutral,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.1146,1.8674,-7.6969,loss_of_function,-0.950897784565862,0.8559195482591573,,,0.1495,benign,0.093711875,neutral,-0.377309516,neutral,https://doi.org/10.1101/2022.10.22.513328 +V720N,NP_000240:p.Val720Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.37064,2.92075,2.782105838402521,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,I,-0.3323,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.7767,pathogenic,-0.834916704,destabilizing,-1.066695765,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720P,NP_000240:p.Val720Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75492,9.92959,6.765830945078382,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,I,-0.3822,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.8832,pathogenic,-1.345836579,destabilizing,-1.086449061,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720Q,NP_000240:p.Val720Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.55884,4.0483,2.580845106460191,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.87,I,-0.3124,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.8313,pathogenic,-0.644040266,destabilizing,-1.028607673,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720R,NP_000240:p.Val720Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.4767,9.36088,4.058515704401822,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.3617,1.8674,-21.9847,loss_of_function,-2.23831702281521,0.6969863946073466,,,0.8658,pathogenic,-1.696190318,destabilizing,-1.043260759,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720S,NP_000240:p.Val720Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.1687,3.89048,3.9734521944764793,Destabilizing,Destabilizing,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,I,-0.2815,1.8674,-21.9847,loss_of_function,-2.04718017633453,0.7205824236922815,,,0.6129,pathogenic,-0.734993698,destabilizing,-1.087430443,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720T,NP_000240:p.Val720Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60182,2.30884,2.486568608401433,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.87,I,-0.1969,1.8674,-21.9847,loss_of_function,-2.04718017633453,0.7205824236922815,,,0.4627,ambiguous,0.148613648,stabilizing,-0.98695893,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720W,NP_000240:p.Val720Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),15.61014,4.53163,2.704188571165369,Destabilizing,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.2176,1.8674,-6.6969,loss_of_function,-1.36005926285362,0.8054081669118207,,,0.8723,pathogenic,-0.354759369,destabilizing,-1.043913339,damaging,https://doi.org/10.1101/2022.10.22.513328 +V720Y,NP_000240:p.Val720Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.62314,2.6619,2.1449561157915147,Uncertain,Uncertain,True,0.215,,,,,,,,,,0.0,,True,0.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.87,I,-0.2985,1.8674,-21.9847,loss_of_function,-1.90184460607509,0.7385242408042636,,,0.7303,pathogenic,-0.019937514,neutral,-1.094762455,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721A,NP_000240:p.Tyr721Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.81767,3.07041,4.275008784481197,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3256,1.3601,-21.9812,loss_of_function,-3.12737436270492,0.5872314036860486,,,0.8,pathogenic,0.075607564,neutral,-1.053141314,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721C,NP_000240:p.Tyr721Cys,"hg19,3:g.37092035A>G",,1.1944577162e-05,0.774,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.89123,3.26565,4.559124506838108,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,90078,Conflicting classifications of pathogenicity,1,91.62,H,-0.2182,1.3601,-6.6935,loss_of_function,-1.24126019378813,0.8200740272132035,,,0.1751,benign,0.099302262,neutral,-0.764790674,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721D,NP_000240:p.Tyr721Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.47107,4.72415,5.627568785509421,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3398,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.8928,pathogenic,-0.007037604,neutral,-1.014278163,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721E,NP_000240:p.Tyr721Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.9589,3.84184,4.940525979715013,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3685,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.9681,pathogenic,-0.037181334,neutral,-1.06281563,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721F,NP_000240:p.Tyr721Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60468,0.28946,0.3751935991795257,Neutral,Neutral,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,-,-,uncertain,neutral,,,,91.62,H,-0.0545,1.3601,-0.7048,loss_of_function,-0.350366191733869,0.9300557558601253,,,0.0799,benign,0.022225221,neutral,-0.173062637,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y721G,NP_000240:p.Tyr721Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.47193,4.97619,6.4241127749468285,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3283,1.3601,-8.6933,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.6454,pathogenic,0.117872914,stabilizing,-1.002956873,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721H,NP_000240:p.Tyr721His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.61017,2.25578,3.081526112554425,Uncertain,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,633306,Uncertain significance,2,91.62,H,-0.2333,1.3601,-21.9812,loss_of_function,-1.55221916040478,0.7816858411799603,,,0.6221,pathogenic,0.148210246,stabilizing,-0.896919786,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721I,NP_000240:p.Tyr721Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93753,3.47313,3.045039083765188,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3376,1.3601,-21.9812,loss_of_function,-2.43246715716896,0.6730183722118417,,,0.7775,pathogenic,0.223885484,stabilizing,-0.890768227,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721K,NP_000240:p.Tyr721Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.96501,4.84388,5.8005313929945785,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3938,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.9787,pathogenic,0.070148295,neutral,-1.104692925,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721L,NP_000240:p.Tyr721Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18769,3.0949,2.37097156331487,Uncertain,Uncertain,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.2337,1.3601,-6.1085,loss_of_function,-1.99772189320611,0.7266880967149193,,,0.5995,pathogenic,0.16592526,stabilizing,-0.946787067,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721M,NP_000240:p.Tyr721Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.48505,1.65918,2.6024801454323385,Neutral,Uncertain,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.1909,1.3601,-7.1085,loss_of_function,-1.62551162539208,0.7726378152896634,,,0.7379,pathogenic,0.03640032,neutral,-0.425927041,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y721N,NP_000240:p.Tyr721Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.66392,4.1102,4.310505975837482,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3188,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.6403,pathogenic,0.00778743,neutral,-1.007374102,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721P,NP_000240:p.Tyr721Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.64865,10.67449,10.08033256830132,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.4498,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.9639,pathogenic,-1.185574902,destabilizing,-1.033156143,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721Q,NP_000240:p.Tyr721Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.7571,2.7568,4.149097250260361,Uncertain,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3433,1.3601,-21.9812,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.928,pathogenic,-0.006523092,neutral,-1.064777544,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721R,NP_000240:p.Tyr721Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.81505,3.77279,4.495947592793269,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3213,1.3601,-8.6933,loss_of_function,-3.68200420693737,0.5187618114705849,,,0.9538,pathogenic,-0.002452219,neutral,-1.086175386,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721S,NP_000240:p.Tyr721Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.20522,4.12721,5.384608621322237,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,820740,Uncertain significance,2,91.62,H,-0.2523,1.3601,-6.6935,loss_of_function,-1.15004667763404,0.8313344242519747,,,0.4918,ambiguous,0.091395226,neutral,-0.958619428,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721T,NP_000240:p.Tyr721Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.58575,3.47551,4.325724443605577,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.3489,1.3601,-21.9812,loss_of_function,-3.12737436270492,0.5872314036860486,,,0.8225,pathogenic,-0.019447339,neutral,-1.044799627,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721V,NP_000240:p.Tyr721Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.80648,3.10272,3.3596649264741223,Destabilizing,Destabilizing,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,DOWN,-,neutral,neutral,,,,91.62,H,-0.2543,1.3601,-7.6934,loss_of_function,-2.95986916500002,0.6079100828088734,,,0.6549,pathogenic,0.172315867,stabilizing,-1.045743935,damaging,https://doi.org/10.1101/2022.10.22.513328 +Y721W,NP_000240:p.Tyr721Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.50356,2.33299,1.025071691359234,Uncertain,Uncertain,True,0.196,,,,,,,,,,0.0,,True,0.0,,uncertain,,,UP,-,neutral,neutral,,,,91.62,H,-0.1673,1.3601,-7.1085,loss_of_function,-1.56616945016219,0.7799636643787835,,,0.516,ambiguous,0.375862053,stabilizing,-0.81623265,damaging,https://doi.org/10.1101/2022.10.22.513328 +K722A,NP_000240:p.Lys722Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.40815,0.05408,0.2426558286592028,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.1236,1.3221,-7.112,loss_of_function,-2.73706818467873,0.6354150799280165,,,0.535,ambiguous,0.192895453,stabilizing,-0.069365522,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722C,NP_000240:p.Lys722Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23243,0.83469,1.0295764976332424,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.2697,1.3221,-21.9847,loss_of_function,-3.79564868629279,0.5047322902684349,,,0.8003,pathogenic,0.22125851,stabilizing,-0.297357491,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722D,NP_000240:p.Lys722Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.71017,1.01361,0.6994809998787138,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.2356,1.3221,-7.6969,loss_of_function,-2.51398559876262,0.6629548415309742,,,0.752,pathogenic,0.160382526,stabilizing,-0.105253702,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722E,NP_000240:p.Lys722Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34862,0.54592,0.3321847407714634,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,582479,Uncertain significance,2,90.8,H,-0.2244,1.3221,-21.9847,loss_of_function,-2.62853603937275,0.6488134785332229,,,0.2936,benign,0.157516496,stabilizing,0.016574607,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722F,NP_000240:p.Lys722Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32478,0.05238,-0.2952781052086273,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.8,H,-0.2707,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.939,pathogenic,0.322560225,stabilizing,-0.391160074,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722G,NP_000240:p.Lys722Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25313,1.21735,1.1846520956022566,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.2587,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.5357,ambiguous,0.061992055,neutral,-0.079368776,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722H,NP_000240:p.Lys722His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50801,0.23027,-0.0251614016789403,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.1418,1.3221,-8.6968,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.4421,ambiguous,0.077332593,neutral,-0.169530521,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722I,NP_000240:p.Lys722Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94534,-0.02789,-0.4883620584740111,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.8,H,-0.2379,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.7317,pathogenic,0.197080375,stabilizing,-0.919969104,damaging,https://doi.org/10.1101/2022.10.22.513328 +K722L,NP_000240:p.Lys722Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19765,-0.10646,-0.589564187088657,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.8,H,-0.2366,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.6406,pathogenic,-0.271424963,destabilizing,-0.851523458,damaging,https://doi.org/10.1101/2022.10.22.513328 +K722M,NP_000240:p.Lys722Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18864,-0.37109,-0.1157055072936413,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.2096,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.5198,ambiguous,0.236266404,stabilizing,-0.253353199,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722N,NP_000240:p.Lys722Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41244,0.75408,0.5513445481735446,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.2178,1.3221,-21.9847,loss_of_function,-2.11470292356551,0.7122466750551502,,,0.6432,pathogenic,0.165713327,stabilizing,-0.110458199,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722P,NP_000240:p.Lys722Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2573,4.0602,5.515016090716747,Uncertain,Uncertain,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.266,1.3221,-0.8578,loss_of_function,-1.15517408835949,0.8307014404247546,,,0.6012,pathogenic,0.083549406,neutral,-0.081963565,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722Q,NP_000240:p.Lys722Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18199,-0.24898,0.3451357149966849,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.1259,1.3221,-7.6969,loss_of_function,-3.05591191693478,0.5960535119290202,,,0.2002,benign,0.089684464,neutral,-0.079507462,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722R,NP_000240:p.Lys722Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09415,-0.47347,-0.2122513421084171,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.8,H,-0.0573,1.3221,-7.112,loss_of_function,-0.556796879933896,0.9045716871811784,,,0.0883,benign,0.096932594,neutral,-0.10883991,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722S,NP_000240:p.Lys722Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46235,0.60578,0.6027736750291085,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.1317,1.3221,-6.6969,loss_of_function,-2.56812946324838,0.6562707289451473,,,0.5958,pathogenic,0.184699697,stabilizing,-0.125537991,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722T,NP_000240:p.Lys722Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83825,0.48265,0.3915302433272022,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.1486,1.3221,-7.6969,loss_of_function,-2.73752855942065,0.6353582462196011,,,0.3416,ambiguous,0.094913441,neutral,-0.121329519,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722V,NP_000240:p.Lys722Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.51808,-0.37075,-0.2529119473060714,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.8,H,-0.154,1.3221,-8.6968,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.6302,pathogenic,0.16756061,stabilizing,-0.30506228,neutral,https://doi.org/10.1101/2022.10.22.513328 +K722W,NP_000240:p.Lys722Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14823,-0.55714,-0.8843663552309944,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.8,H,-0.2797,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.8919,pathogenic,0.554539301,stabilizing,-0.57911517,damaging,https://doi.org/10.1101/2022.10.22.513328 +K722Y,NP_000240:p.Lys722Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4211,-0.10374,-0.2149978152528242,Neutral,Neutral,False,0.092,,,,,,,Uncertain,Uncertain,Uncertain,82.5,,True,82.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.8,H,-0.2555,1.3221,-21.9847,loss_of_function,-4.3599214018877,0.43507227623048966,,,0.8246,pathogenic,0.309204502,stabilizing,-0.276775673,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723C,NP_000240:p.Ala723Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.66519,1.79014,0.866795246659236,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.1515,1.148,-5.8861,loss_of_function,-1.65674789421434,0.7687816676069642,,,0.5301,ambiguous,-0.017158504,neutral,-0.14026307,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723D,NP_000240:p.Ala723Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2229,3.28503,1.8371500852140727,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.3154,1.148,-21.9812,loss_of_function,-3.50931221012561,0.5400808059739167,,,0.7638,pathogenic,0.213484905,stabilizing,-0.929519018,damaging,https://doi.org/10.1101/2022.10.22.513328 +A723E,NP_000240:p.Ala723Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00012,3.09762,1.2697022821665274,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2281,1.148,-7.6934,loss_of_function,-2.60721709135465,0.6514453233436694,,,0.6291,pathogenic,0.062671648,neutral,-0.262522557,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723F,NP_000240:p.Ala723Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.37968,2.23231,-0.8019309084650728,Uncertain,Uncertain,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2837,1.148,-21.9812,loss_of_function,-3.62065176308165,0.5263358301713577,,,0.5099,ambiguous,0.111650809,stabilizing,-0.232060281,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723G,NP_000240:p.Ala723Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92675,2.07245,1.860784737000776,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.58,H,-0.1462,1.148,-6.1085,loss_of_function,-1.6350857121761,0.7714558849901056,,,0.1657,benign,0.082030517,neutral,-0.251268494,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723H,NP_000240:p.Ala723His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.98145,2.95442,-0.0730840577570718,Uncertain,Uncertain,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2201,1.148,-8.6933,loss_of_function,-3.62065176308165,0.5263358301713577,,,0.7506,pathogenic,0.041712334,neutral,-0.155359144,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723I,NP_000240:p.Ala723Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.98664,1.73469,0.0468186227466699,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2055,1.148,-8.6933,loss_of_function,-3.38942411053069,0.5548811081504269,,,0.382,ambiguous,-0.117107068,destabilizing,-0.834758825,damaging,https://doi.org/10.1101/2022.10.22.513328 +A723K,NP_000240:p.Ala723Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00783,2.67687,0.5109433417418898,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.3057,1.148,-21.9812,loss_of_function,-3.9010523512453,0.4917201055972309,,,0.8503,pathogenic,0.007958553,neutral,0.027974172,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723L,NP_000240:p.Ala723Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29012,5.78537,-0.2773759764438549,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2051,1.148,-7.6934,loss_of_function,-2.70349912936373,0.639559212365854,,,0.3649,ambiguous,0.206820287,stabilizing,-0.275946859,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723M,NP_000240:p.Ala723Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.10995,0.87075,-0.1787115517836901,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2368,1.148,-21.9812,loss_of_function,-2.80221251660517,0.6273729489670962,,,0.3411,ambiguous,0.022870215,neutral,0.002744054,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723N,NP_000240:p.Ala723Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.13736,2.65442,0.8386219273862833,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2128,1.148,-7.6934,loss_of_function,-2.51497460985151,0.6628327471527918,,,0.5137,ambiguous,0.057687597,neutral,-0.141009875,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723P,NP_000240:p.Ala723Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.5774,11.06803,6.075771105394698,Destabilizing,Destabilizing,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.3551,1.148,-21.9812,loss_of_function,-4.09955883195785,0.4672142880184373,,,0.8271,pathogenic,-0.162235883,destabilizing,-1.054121897,damaging,https://doi.org/10.1101/2022.10.22.513328 +A723Q,NP_000240:p.Ala723Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62973,2.26156,0.5130259809337686,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2832,1.148,-21.9812,loss_of_function,-2.52882518763793,0.6611228798911463,,,0.672,pathogenic,0.072185354,neutral,-0.212587718,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723R,NP_000240:p.Ala723Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35988,2.49048,-0.0898677344443021,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.3164,1.148,-21.9812,loss_of_function,-3.948480472483,0.48586505802909125,,,0.7894,pathogenic,0.107869654,neutral,-0.360406504,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723S,NP_000240:p.Ala723Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.86414,1.71259,1.1806768108652546,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.58,H,-0.1058,1.148,-3.8355,loss_of_function,-0.280044708245761,0.9387370112027413,,,0.11,benign,0.055580629,neutral,-0.166968958,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723T,NP_000240:p.Ala723Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01006,1.78197,0.8339266906370637,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,560782,Uncertain significance,2,90.58,H,-0.1166,1.148,-4.7866,loss_of_function,-1.25232060518647,0.8187086086983965,,,0.1239,benign,0.095684496,neutral,-0.161921604,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723V,NP_000240:p.Ala723Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20894,2.0,0.0738333657836032,Uncertain,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.1182,1.148,-5.6935,loss_of_function,-1.11773326903144,0.8353235458852931,,,0.1654,benign,0.130441621,stabilizing,-0.377127518,neutral,https://doi.org/10.1101/2022.10.22.513328 +A723W,NP_000240:p.Ala723Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36621,1.76837,-0.7894625330583627,Neutral,Neutral,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2947,1.148,-21.9812,loss_of_function,-3.62065176308165,0.5263358301713577,,,0.9158,pathogenic,0.164768396,stabilizing,-0.65108024,damaging,https://doi.org/10.1101/2022.10.22.513328 +A723Y,NP_000240:p.Ala723Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48162,0.80986,-0.5771849881282304,Uncertain,Uncertain,False,0.068,,,,,,,,,,13.4,,True,13.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.58,H,-0.2351,1.148,-8.6933,loss_of_function,-1.52247051839986,0.7853583398891841,,,0.6789,pathogenic,0.004898936,neutral,-0.225729732,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724A,NP_000240:p.Leu724Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.04684,3.42823,3.856761891285446,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.1352,2.1398,-5.1085,loss_of_function,-1.51392542980538,0.7864132393642002,,,0.3334,benign,0.009463179,neutral,-0.125455422,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724C,NP_000240:p.Leu724Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.9393,3.04286,3.967652291241924,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.1274,2.1398,-5.6935,loss_of_function,-1.30185136297297,0.8125939886089243,,,0.265,benign,-0.02517491,neutral,-0.128093236,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724D,NP_000240:p.Leu724Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.90295,4.91599,5.006122634906712,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.3428,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.9584,pathogenic,-1.236094559,destabilizing,-1.106968324,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724E,NP_000240:p.Leu724Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.45881,3.89218,4.677539622782865,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.3109,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.8719,pathogenic,-0.576631125,destabilizing,-1.049002142,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724F,NP_000240:p.Leu724Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.33514,0.26973,2.778319895772774,Uncertain,Uncertain,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.47,H,-0.0478,2.1398,-1.0211,loss_of_function,0.0265481135455206,0.9765861924224943,,,0.044,benign,0.004937198,neutral,-0.084214173,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724G,NP_000240:p.Leu724Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.25627,5.90544,5.931624629206708,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.2961,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.6601,pathogenic,-0.056276465,neutral,-1.011065948,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724H,NP_000240:p.Leu724His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.68245,2.95306,3.8018484104919614,Uncertain,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.2637,2.1398,-21.9812,loss_of_function,-1.53074391363882,0.784336981222427,,,0.5322,ambiguous,-0.146601139,destabilizing,-1.016099101,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724I,NP_000240:p.Leu724Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3379,1.24932,1.8286862843530765,Neutral,Neutral,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.47,H,0.0018,2.1398,-2.9386,gain_of_function,-0.197232317394292,0.9489602811745088,,,0.0777,benign,-0.007716679,neutral,-0.076743588,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724K,NP_000240:p.Leu724Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.28011,5.51054,7.024046134605247,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.47,H,-0.3099,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.8665,pathogenic,-0.151449156,destabilizing,-1.044694933,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724M,NP_000240:p.Leu724Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25824,0.55952,2.2692119381781937,Neutral,Uncertain,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.47,H,-0.0222,2.1398,-3.0788,loss_of_function,-0.49575468043631,0.9121074059150283,,,0.0865,benign,0.005012464,neutral,-0.006610985,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724N,NP_000240:p.Leu724Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.49782,3.44592,3.771022201734369,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.2891,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.7426,pathogenic,-0.297968723,destabilizing,-1.082936796,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724P,NP_000240:p.Leu724Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.70839,11.48741,9.667976304544045,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.3047,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.9031,pathogenic,-1.290253101,destabilizing,-1.060689659,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724Q,NP_000240:p.Leu724Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.55266,2.41837,3.6216968088643378,Uncertain,Uncertain,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.2421,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.5613,ambiguous,0.010552158,neutral,-1.071213565,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724R,NP_000240:p.Leu724Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.49275,6.22483,5.858499298570369,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.47,H,-0.3015,2.1398,-21.9812,loss_of_function,-2.379697476164,0.6795328405141197,,,0.7822,pathogenic,-0.760462238,destabilizing,-1.061618273,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724S,NP_000240:p.Leu724Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.76257,4.71769,4.906808577748501,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1787116,Uncertain significance,1,90.47,H,-0.1788,2.1398,-7.6934,loss_of_function,-0.567319092130189,0.9032727098798725,,,0.4391,ambiguous,0.104010116,neutral,-0.861856595,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724T,NP_000240:p.Leu724Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.736,3.85306,3.9862232230133934,Destabilizing,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.47,H,-0.1515,2.1398,-7.6934,loss_of_function,-1.23017461869466,0.8214425522105813,,,0.3936,ambiguous,0.089748499,neutral,-0.66240051,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724V,NP_000240:p.Leu724Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.69159,2.22687,2.3065272697495764,Uncertain,Uncertain,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2566505,Uncertain significance,1,90.47,H,-0.0486,2.1398,-5.6935,loss_of_function,-0.296909045770729,0.9366550923782747,,,0.0823,benign,0.028578198,neutral,-0.231776292,neutral,https://doi.org/10.1101/2022.10.22.513328 +L724W,NP_000240:p.Leu724Trp,"hg38,3:g.37050553T>G",,,0.793,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.07522,2.13707,4.8352080244753415,Uncertain,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.47,H,-0.2539,2.1398,-21.9812,loss_of_function,-1.53074391363882,0.784336981222427,,,0.2624,benign,0.181992177,stabilizing,-0.987090968,damaging,https://doi.org/10.1101/2022.10.22.513328 +L724Y,NP_000240:p.Leu724Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),8.76247,1.01361,4.315701462894942,Uncertain,Destabilizing,False,0.055,,,,,,,,,,0.1,,True,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.47,H,-0.2468,2.1398,-21.9812,loss_of_function,-0.983641913830733,0.8518772537423182,,,0.3114,benign,0.093499358,neutral,-0.9536876,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725A,NP_000240:p.Arg725Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36328,0.28129,1.3866073997217516,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2056,1.2844,-5.375,loss_of_function,-2.29242753247259,0.6903063997074345,,,0.7183,pathogenic,0.137452778,stabilizing,-0.293539008,neutral,https://doi.org/10.1101/2022.10.22.513328 +R725C,NP_000240:p.Arg725Cys,"hg19,3:g.37092046C>T, hg38,3:g.37050555C>T",,1.59268638412e-05,0.912,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.07021,1.03741,1.7724382274915496,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90081,Conflicting classifications of pathogenicity,1,87.7,H,-0.2993,1.2844,-21.9847,loss_of_function,-3.25575768631272,0.5713823578654854,,,0.1846,benign,0.200266843,stabilizing,-0.952290521,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725D,NP_000240:p.Arg725Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.80438,4.16701,1.5723707931377575,Destabilizing,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.3814,1.2844,-21.9847,loss_of_function,-2.64290444387321,0.6470396850614799,,,0.9353,pathogenic,0.103755486,neutral,-1.020539245,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725E,NP_000240:p.Arg725Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.61173,2.11837,1.4053484010572463,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.3267,1.2844,-21.9847,loss_of_function,-3.43567738294679,0.5491710968088197,,,0.7187,pathogenic,0.247497268,stabilizing,-0.909849193,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725F,NP_000240:p.Arg725Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.1107,1.55068,0.7417833521535108,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.7,H,-0.3226,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.8697,pathogenic,0.251512684,stabilizing,-1.017590709,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725G,NP_000240:p.Arg725Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42123,1.76327,1.830453697308505,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"229812, 187049","Uncertain significance, Uncertain significance","2, 2",87.7,H,-0.3258,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.4848,ambiguous,0.271109549,stabilizing,-0.547085499,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725H,NP_000240:p.Arg725His,"hg19,3:g.37092047G>A, hg38,3:g.37050556G>A",3.18451054073e-05,0.0001871376696184,0.931,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.3354,3.16531,0.8604131625786976,Destabilizing,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90082,Conflicting classifications of pathogenicity,1,87.7,H,-0.1923,1.2844,-8.6968,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.1767,benign,0.173731345,stabilizing,-0.880310181,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725I,NP_000240:p.Arg725Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18506,0.66633,0.9288942581079452,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.3198,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.672,pathogenic,0.099394415,neutral,-1.035598225,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725K,NP_000240:p.Arg725Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04797,0.73163,0.8187928718982737,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.7,H,-0.0772,1.2844,-1.7083,loss_of_function,-0.808470276146796,0.8735023623163664,,,0.1899,benign,0.026673828,neutral,-0.090587095,neutral,https://doi.org/10.1101/2022.10.22.513328 +R725L,NP_000240:p.Arg725Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.0304,0.60306,0.4751815018827193,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2928,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.5451,ambiguous,0.033511801,neutral,-1.034486081,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725M,NP_000240:p.Arg725Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.15633,0.5068,0.8056239028131287,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2587,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.7086,pathogenic,0.117246513,stabilizing,-0.769625352,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725N,NP_000240:p.Arg725Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.043,2.32007,1.1249054467292663,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2324,1.2844,-7.6969,loss_of_function,-3.43567738294679,0.5491710968088197,,,0.8811,pathogenic,0.11945852,stabilizing,-1.029934303,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725P,NP_000240:p.Arg725Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.10563,5.45272,4.431253529334563,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.4325,1.2844,-21.9847,loss_of_function,-2.64652640157686,0.6465925508699656,,,0.9127,pathogenic,0.016454508,neutral,-1.114637414,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725Q,NP_000240:p.Arg725Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44555,0.19388,1.0957696619851836,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.1841,1.2844,-6.112,loss_of_function,-2.44224289693678,0.671811547655847,,,0.1444,benign,0.07026924,neutral,-0.312110765,neutral,https://doi.org/10.1101/2022.10.22.513328 +R725S,NP_000240:p.Arg725Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35503,1.16497,1.5724789931456051,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1310660,Uncertain significance,2,87.7,H,-0.215,1.2844,-7.112,loss_of_function,-2.31485722006422,0.6875374330193104,,,0.7817,pathogenic,0.217512536,stabilizing,-0.511940544,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725T,NP_000240:p.Arg725Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95248,1.11905,1.4616531909395476,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2953,1.2844,-21.9847,loss_of_function,-2.30156585077716,0.6891782654493243,,,0.6924,pathogenic,0.18656423,stabilizing,-0.725162677,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725V,NP_000240:p.Arg725Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59052,0.83878,1.115539595993131,Neutral,Neutral,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.7,H,-0.2391,1.2844,-8.6968,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.7192,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +R725W,NP_000240:p.Arg725Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.02441,1.94252,0.6114488341565735,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.7,H,-0.3081,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.4023,ambiguous,0.282435323,stabilizing,-1.04470828,damaging,https://doi.org/10.1101/2022.10.22.513328 +R725Y,NP_000240:p.Arg725Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.34772,1.81497,0.8729728865743421,Uncertain,Uncertain,False,0.02,,,,,,,Uncertain,Uncertain,Uncertain,41.2,,True,41.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.7,H,-0.3119,1.2844,-21.9847,loss_of_function,-3.93722115820529,0.48725503129727593,,,0.6749,pathogenic,0.110675448,stabilizing,-1.061793489,damaging,https://doi.org/10.1101/2022.10.22.513328 +S726A,NP_000240:p.Ser726Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00752,-0.20884,-0.202026646349922,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,-,-,uncertain,neutral,,,,83.6,H,0.0845,2.8955,-2.9281,gain_of_function,-0.476991321029603,0.9144237608326893,,,0.0843,benign,0.007629194,neutral,0.019966853,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726C,NP_000240:p.Ser726Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14959,0.20782,0.5352045660306989,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0632,2.8955,-21.9707,loss_of_function,-1.46960915554592,0.7918841264046426,,,0.0834,benign,0.248654178,stabilizing,0.008832696,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726D,NP_000240:p.Ser726Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09538,-0.19014,0.1110012695798645,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0317,2.8955,-6.361,loss_of_function,-0.967564870029772,0.8538619803929465,,,0.2889,benign,0.0186358,neutral,0.055762809,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726E,NP_000240:p.Ser726Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25081,-0.20136,-0.1023978568527367,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0014,2.8955,-5.683,loss_of_function,-1.01576128295955,0.8479120864702405,,,0.4019,ambiguous,0.021991238,neutral,0.066763016,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726F,NP_000240:p.Ser726Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.03028,-0.63027,-0.7028638496593986,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0229,2.8955,-8.6829,loss_of_function,-1.54770928706561,0.7822425894178842,,,0.1565,benign,0.084264833,neutral,-0.083565886,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726G,NP_000240:p.Ser726Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32603,0.82585,0.5067824775077584,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,DOWN,-,neutral,neutral,,,,83.6,H,0.0592,2.8955,-6.098,gain_of_function,-1.57156747627731,0.7792972728192341,,,0.0772,benign,0.037814307,neutral,-0.04544659,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726H,NP_000240:p.Ser726His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64265,-0.47925,-0.5272828146681685,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0161,2.8955,-7.098,loss_of_function,-2.01313544918521,0.724785278279428,,,0.2442,benign,0.091718553,neutral,0.090401996,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726I,NP_000240:p.Ser726Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45866,-0.3449,-0.4474155798376988,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0939,2.8955,-21.9707,loss_of_function,-1.91527034593676,0.7368668201964859,,,0.1716,benign,0.070886272,neutral,-0.003237931,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726K,NP_000240:p.Ser726Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37831,-0.42381,-0.4080469547639292,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0087,2.8955,-3.825,loss_of_function,-0.948766128705148,0.856182703242692,,,0.4815,ambiguous,-0.011745438,neutral,0.150052396,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726L,NP_000240:p.Ser726Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.91722,-1.01224,-0.9468019300664072,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,1787200,Uncertain significance,1,83.6,H,-0.008,2.8955,-5.8756,loss_of_function,-0.492559287925618,0.9125018802197391,,,0.0979,benign,0.020448828,neutral,0.073876237,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726M,NP_000240:p.Ser726Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.86578,-0.68163,-0.5216228715430121,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,0.0066,2.8955,-8.6829,gain_of_function,-0.760368619873326,0.879440558437945,,,0.1876,benign,0.078539136,neutral,0.021433742,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726N,NP_000240:p.Ser726Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34895,-0.38231,-0.1365383869324654,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,0.049,2.8955,-5.5131,gain_of_function,-0.564743852888798,0.9035906256619909,,,0.1003,benign,0.002808994,neutral,-0.047936237,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726P,NP_000240:p.Ser726Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32623,4.95408,5.003187132423593,Uncertain,Uncertain,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.1661,2.8955,-21.9707,loss_of_function,-1.64614240985753,0.770090924937253,,,0.3925,ambiguous,0.026631634,neutral,-1.061868234,damaging,https://doi.org/10.1101/2022.10.22.513328 +S726Q,NP_000240:p.Ser726Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.77096,-0.36156,-0.0545876887123097,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,0.0336,2.8955,-4.683,gain_of_function,-1.16364986612654,0.8296550974386105,,,0.3855,ambiguous,0.075407393,neutral,0.026454762,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726R,NP_000240:p.Ser726Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.66172,-0.20544,-0.704425994707425,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0091,2.8955,-2.8756,loss_of_function,-0.921292157665067,0.8595743916150641,,,0.392,ambiguous,0.04384309,neutral,0.034878218,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726T,NP_000240:p.Ser726Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4516,-0.2898,-0.1210994578883012,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,neutral,,,UP,-,neutral,neutral,2452037,Uncertain significance,1,83.6,H,0.0977,2.8955,-2.1594,gain_of_function,-0.139755764911707,0.9560558173259748,,,0.0727,benign,0.056600451,neutral,-0.032917626,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726V,NP_000240:p.Ser726Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22411,-0.37109,-0.3698449298031386,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,0.0078,2.8955,-7.098,gain_of_function,-1.38109540821018,0.8028112343642364,,,0.1681,benign,0.047999698,neutral,-0.036073575,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726W,NP_000240:p.Ser726Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.75216,-0.45136,-1.1248168686575577,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.1004,2.8955,-21.9707,loss_of_function,-1.48121065729298,0.7904519097614732,,,0.2351,benign,0.060373402,neutral,-0.209598052,neutral,https://doi.org/10.1101/2022.10.22.513328 +S726Y,NP_000240:p.Ser726Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82004,-0.86156,-0.6456836627803503,Neutral,Neutral,False,0.026,,,,,,,Uncertain,Uncertain,Uncertain,60.7,,True,60.7,,uncertain,,,UP,-,neutral,neutral,,,,83.6,H,-0.0277,2.8955,-8.6829,loss_of_function,-1.6538942638725,0.7691339510404492,,,0.1304,benign,0.110643424,stabilizing,-0.099223956,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727A,NP_000240:p.His727Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.87381,1.22313,0.8733956665744099,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0711,3.1205,-6.354,gain_of_function,-1.38754687315345,0.8020147947596036,,,0.2194,benign,0.069296267,neutral,-0.141615479,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727C,NP_000240:p.His727Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.39671,1.47585,1.1800851289826502,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0098,3.1205,-7.6759,gain_of_function,-1.51597551813356,0.7861601539716706,,,0.112,benign,0.092738588,neutral,-0.323209776,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727D,NP_000240:p.His727Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.12459,1.97109,1.4796372103286828,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0121,3.1205,-8.6758,gain_of_function,-1.66562368841471,0.767685942204144,,,0.1925,benign,0.166430195,stabilizing,-0.213353495,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727E,NP_000240:p.His727Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.87748,2.11701,1.1535934720154732,Uncertain,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,-0.0673,3.1205,-21.9637,loss_of_function,-1.59544979811623,0.7763489770243472,,,0.2395,benign,0.191505617,stabilizing,-0.236499627,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727F,NP_000240:p.His727Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.59999,-0.57551,-0.5781627885284718,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,78.03,H,0.056,3.1205,-5.091,gain_of_function,-0.848501002718849,0.8685605302945604,,,0.2199,benign,0.033706019,neutral,0.028081353,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727G,NP_000240:p.His727Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14847,2.37857,2.220013512592645,Uncertain,Uncertain,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,-0.0033,3.1205,-4.7691,loss_of_function,-1.21125874722608,0.8237777348902046,,,0.2081,benign,0.129608638,stabilizing,-0.43045025,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727I,NP_000240:p.His727Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61523,-0.08163,-0.1320007247628646,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,78.03,H,-0.027,3.1205,-8.6758,loss_of_function,-1.29516241700042,0.8134197454769586,,,0.2395,benign,0.174887878,stabilizing,-0.371874932,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727K,NP_000240:p.His727Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.79864,-0.40204,0.763694595484018,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,78.03,H,0.0333,3.1205,-5.354,gain_of_function,-1.58208954152897,0.7779983136583858,,,0.2172,benign,0.098694819,neutral,-0.113763573,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727L,NP_000240:p.His727Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.65375,0.7983,-0.2448984142456822,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,126989,Uncertain significance,2,78.03,H,0.038,3.1205,-3.091,gain_of_function,-0.461995158995025,0.9162750515808918,,,0.1097,benign,0.167412732,stabilizing,-0.246750994,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727M,NP_000240:p.His727Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.41254,0.25714,0.2871344230156164,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,78.03,H,0.0712,3.1205,-6.354,gain_of_function,-1.41565710670331,0.7985445591632774,,,0.4075,ambiguous,0.102545985,neutral,-0.464635467,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727N,NP_000240:p.His727Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37237,0.88129,0.8172815462294236,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0725,3.1205,-4.7691,gain_of_function,-1.31588895330588,0.8108610344670277,,,0.0845,benign,0.059221051,neutral,-0.09551834,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727P,NP_000240:p.His727Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.34382,8.28265,5.024403090346419,Destabilizing,Destabilizing,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,-0.1718,3.1205,-21.9637,loss_of_function,-2.94028890569793,0.6103272848109447,,,0.2817,benign,0.272704727,stabilizing,-0.985765308,damaging,https://doi.org/10.1101/2022.10.22.513328 +H727Q,NP_000240:p.His727Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5623,0.42687,0.812317268527053,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,2754348,Uncertain significance,1,78.03,H,0.1072,3.1205,-5.506,gain_of_function,-1.60512153406202,0.7751549918410574,,,0.1385,benign,0.029833624,neutral,-0.295903664,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727R,NP_000240:p.His727Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46627,-0.6381,0.2800953676212797,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,954831,Uncertain significance,1,78.03,H,0.0545,3.1205,-2.4861,gain_of_function,-0.66496459546998,0.8912182777845322,,,0.0888,benign,0.024700052,neutral,-0.12296803,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727S,NP_000240:p.His727Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.32598,1.23435,1.412304537171209,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0754,3.1205,-4.354,gain_of_function,-0.938899850076865,0.8574007049088257,,,0.1578,benign,0.007479909,neutral,-0.084634731,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727T,NP_000240:p.His727Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48789,0.93367,0.7984520314172069,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0187,3.1205,-6.6759,gain_of_function,-1.48693510014583,0.7897452217390538,,,0.1991,benign,0.137945827,stabilizing,-0.198338928,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727V,NP_000240:p.His727Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11878,0.25442,0.0459510845053262,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,78.03,H,0.0248,3.1205,-7.091,gain_of_function,-0.684251020419127,0.8888373499183267,,,0.2012,benign,0.100205887,neutral,-0.364388456,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727W,NP_000240:p.His727Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.07342,-0.27857,-0.4967255738025128,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,78.03,H,0.0265,3.1205,-7.6759,gain_of_function,-1.92670364811618,0.7354553679530812,,,0.3401,ambiguous,0.113263939,stabilizing,-0.088992972,neutral,https://doi.org/10.1101/2022.10.22.513328 +H727Y,NP_000240:p.His727Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.18863,-0.73605,-0.2346089229659004,Neutral,Neutral,False,0.045,,,,,,,Uncertain,Uncertain,Uncertain,65.3,,True,65.3,,neutral,neutral,neutral,UP,-,neutral,neutral,999886,Uncertain significance,1,78.03,H,0.1194,3.1205,-2.4092,gain_of_function,-0.0682048265683154,0.9648888500629448,,,0.0721,benign,0.103653413,neutral,0.035450455,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728A,NP_000240:p.Ile728Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.98309,2.75918,3.1336296578359377,Uncertain,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.279,1.5859,-21.9777,loss_of_function,-1.7342691741962,0.7592115904039888,,,0.3744,ambiguous,0.189436726,stabilizing,-0.761137398,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728C,NP_000240:p.Ile728Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.53072,2.20306,3.0741631531651747,Uncertain,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.259,1.5859,-21.9777,loss_of_function,-1.82928932246885,0.7474812609380639,,,0.4245,ambiguous,-0.046697141,neutral,0.105023586,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728D,NP_000240:p.Ile728Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.37252,4.93095,4.08325538247716,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.3353,1.5859,-8.6899,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.8978,pathogenic,0.457527637,stabilizing,-1.002244538,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728E,NP_000240:p.Ile728Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.70731,4.7466,3.5670631618401325,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.384,1.5859,-21.9777,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.8565,pathogenic,0.343495955,stabilizing,-1.029234688,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728F,NP_000240:p.Ile728Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.73499,2.73741,1.150178678287217,Uncertain,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,1484214,Uncertain significance,1,88.25,-,-0.1385,1.5859,-2.0901,loss_of_function,-0.472009687523669,0.9150387483207684,,,0.1013,benign,0.130486537,stabilizing,-0.103762345,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728G,NP_000240:p.Ile728Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.69859,5.08469,4.994259717109142,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.3697,1.5859,-21.9777,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.6267,pathogenic,0.204567861,stabilizing,-0.999467801,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728H,NP_000240:p.Ile728His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93832,3.32687,2.3715056336301457,Destabilizing,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.3696,1.5859,-21.9777,loss_of_function,-2.09274138325438,0.7149578485074326,,,0.5877,pathogenic,0.253113147,stabilizing,-1.003901305,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728K,NP_000240:p.Ile728Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.99747,6.56565,4.926714982174378,Uncertain,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.25,-,-0.3765,1.5859,-21.9777,loss_of_function,-1.93603650410169,0.7343032178295734,,,0.7435,pathogenic,0.129869499,stabilizing,-0.95347587,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728L,NP_000240:p.Ile728Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26121,0.28265,0.759177488970546,Neutral,Neutral,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.25,-,-0.0553,1.5859,-0.6402,loss_of_function,-0.0495692471663739,0.9671894304150815,,,0.0544,benign,0.009945447,neutral,0.005435129,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728M,NP_000240:p.Ile728Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06356,2.15952,1.4287040624392349,Uncertain,Neutral,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,-,-,uncertain,neutral,647498,Uncertain significance,1,88.25,-,-0.0902,1.5859,-6.368,loss_of_function,-0.914387207231728,0.8604268144432893,,,0.089,benign,0.047590349,neutral,0.0057455,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728N,NP_000240:p.Ile728Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.63938,3.29694,2.9275913884226936,Destabilizing,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.3162,1.5859,-21.9777,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.499,ambiguous,0.129525367,stabilizing,-0.919597153,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728P,NP_000240:p.Ile728Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.86397,9.47381,6.591118142316157,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.4231,1.5859,-21.9777,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.78,pathogenic,0.342618216,stabilizing,-0.998229685,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728Q,NP_000240:p.Ile728Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.00009,3.54286,2.715458646756313,Destabilizing,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.2708,1.5859,-7.6899,loss_of_function,-3.02010710701708,0.6004736504410576,,,0.6456,pathogenic,0.352700995,stabilizing,-0.930286011,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728R,NP_000240:p.Ile728Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.9619,8.1085,3.92028133941504,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.25,-,-0.4033,1.5859,-21.9777,loss_of_function,-1.93540287629171,0.7343814397972819,,,0.5942,pathogenic,0.23418048,stabilizing,-1.149993602,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728S,NP_000240:p.Ile728Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.39497,3.79626,3.887143820679365,Destabilizing,Destabilizing,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.2416,1.5859,-6.69,loss_of_function,-2.49362777710163,0.6654680343604226,,,0.4084,ambiguous,0.284688113,stabilizing,-0.975026798,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728T,NP_000240:p.Ile728Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.61423,2.7432,2.913061739593008,Uncertain,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.1554,1.5859,-6.105,loss_of_function,-1.72717970575828,0.7600867921588467,,,0.3248,benign,0.147690255,stabilizing,-0.743137564,damaging,https://doi.org/10.1101/2022.10.22.513328 +I728V,NP_000240:p.Ile728Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.86007,1.09286,1.2997225840875848,Uncertain,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.25,-,-0.0422,1.5859,-5.8826,loss_of_function,-0.399648783374602,0.9239717721220487,,,0.0718,benign,0.13172266,stabilizing,-0.027472341,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728W,NP_000240:p.Ile728Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.80862,8.36327,2.5577094496619845,Destabilizing,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.25,-,-0.3289,1.5859,-21.9777,loss_of_function,-2.09274138325438,0.7149578485074326,,,0.6612,pathogenic,0.213830991,stabilizing,-0.399029024,neutral,https://doi.org/10.1101/2022.10.22.513328 +I728Y,NP_000240:p.Ile728Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.02874,3.29456,2.063915931597396,Destabilizing,Uncertain,False,0.058,,,,,,,,,,0.4,,False,0.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.25,-,-0.2581,1.5859,-6.368,loss_of_function,-1.26438944135961,0.8172186991670518,,,0.4492,ambiguous,0.149532315,stabilizing,-0.55870479,damaging,https://doi.org/10.1101/2022.10.22.513328 +L729A,NP_000240:p.Leu729Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.58972,1.34626,2.314516789156831,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.0849,2.6497,-4.4421,loss_of_function,-0.488500748745826,0.9130029108179308,,,0.2222,benign,0.075949307,neutral,-0.078343629,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729C,NP_000240:p.Leu729Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.7428,1.50136,2.573417946460149,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.0839,2.6497,-6.368,loss_of_function,-0.563891302773841,0.9036958738005851,,,0.3002,benign,0.121711129,stabilizing,-0.020386248,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729D,NP_000240:p.Leu729Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42493,2.02721,2.471253138703998,Uncertain,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.2959,2.6497,-21.9777,loss_of_function,-2.6408602810231,0.6472920389479946,,,0.6703,pathogenic,0.159814882,stabilizing,-0.030036993,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729E,NP_000240:p.Leu729Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.55241,2.60646,2.2799801099534145,Uncertain,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.191,2.6497,-7.6899,loss_of_function,-1.87208830648318,0.7421976848500286,,,0.3324,benign,0.045148142,neutral,-0.038520086,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729F,NP_000240:p.Leu729Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57222,0.71531,0.4027104919756963,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.74,-,-0.0206,2.6497,-4.8826,loss_of_function,-1.38209396487921,0.8026879615749274,,,0.1,benign,0.076892891,neutral,-0.062036872,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729G,NP_000240:p.Leu729Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24899,6.18605,3.544094538455161,Uncertain,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.2492,2.6497,-21.9777,loss_of_function,-3.11808673669592,0.5883779701250869,,,0.5217,ambiguous,0.200071367,stabilizing,-0.896064309,damaging,https://doi.org/10.1101/2022.10.22.513328 +L729H,NP_000240:p.Leu729His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.59893,1.35136,1.4202628199769265,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.2168,2.6497,-21.9777,loss_of_function,-1.92184748950881,0.7360548654432323,,,0.1429,benign,0.029230329,neutral,-0.058309339,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729I,NP_000240:p.Leu729Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22531,-0.34694,0.7620177714258238,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.74,-,0.0448,2.6497,-3.69,gain_of_function,-0.083465153025453,0.9630049479605597,,,0.0782,benign,0.061745913,neutral,-0.129024744,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729K,NP_000240:p.Leu729Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5889,1.60102,2.165582469819676,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.74,-,-0.1782,2.6497,-5.3681,loss_of_function,-1.44929513406454,0.7943919120594356,,,0.2128,benign,0.004689201,neutral,-0.013988611,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729M,NP_000240:p.Leu729Met,"hg19,3:g.37092058C>A",,,0.531,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.12129,0.86939,0.9067459743001284,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.74,-,0.0062,2.6497,-6.69,gain_of_function,-0.0799105997640198,0.9634437610083055,,,0.1,benign,0.147230134,stabilizing,-0.011927355,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729N,NP_000240:p.Leu729Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21701,1.08061,2.1246803590569163,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.1693,2.6497,-7.6899,loss_of_function,-1.24783256276535,0.8192626618883128,,,0.3498,ambiguous,0.001651597,neutral,-0.089070832,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729P,NP_000240:p.Leu729Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.77462,5.53707,6.202763690215258,Destabilizing,Destabilizing,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,525858,Uncertain significance,1,89.74,-,-0.2578,2.6497,-21.9777,loss_of_function,-3.11808673669592,0.5883779701250869,,,0.6985,pathogenic,0.203946779,stabilizing,-1.023336754,damaging,https://doi.org/10.1101/2022.10.22.513328 +L729Q,NP_000240:p.Leu729Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.99455,0.87143,2.045258792376814,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.1141,2.6497,-6.105,loss_of_function,-0.870445090303642,0.8658515113982719,,,0.1233,benign,0.115369737,stabilizing,0.018863961,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729R,NP_000240:p.Leu729Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1836,1.48503,1.571082628531063,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.74,-,-0.1787,2.6497,-7.105,loss_of_function,-1.83817533789304,0.7463842737152494,,,0.1281,benign,0.01318205,neutral,0.031294465,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729S,NP_000240:p.Leu729Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.43675,2.27313,2.601687470773478,Uncertain,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.1082,2.6497,-3.0461,loss_of_function,-0.529386069856104,0.9079555782714952,,,0.1772,benign,0.024037978,neutral,-0.057605936,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729T,NP_000240:p.Leu729Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.79583,1.30442,2.1708311210156386,Neutral,Uncertain,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,89.74,-,-0.1016,2.6497,-7.105,loss_of_function,-0.265784593201894,0.9404974362360361,,,0.1764,benign,0.028703573,neutral,-0.087228366,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729V,NP_000240:p.Leu729Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60216,0.05204,1.14614351732026,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,90085,Uncertain significance,2,89.74,-,0.0158,2.6497,-2.2637,gain_of_function,-0.68258197908235,0.8890433946901837,,,0.0815,benign,-0.011589008,neutral,-0.040255118,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729W,NP_000240:p.Leu729Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43965,0.61599,0.100638716454196,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.74,-,-0.207,2.6497,-21.9777,loss_of_function,-2.61348559253849,0.650671470792598,,,0.171,benign,0.213621627,stabilizing,0.01947918,neutral,https://doi.org/10.1101/2022.10.22.513328 +L729Y,NP_000240:p.Leu729Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92362,1.66565,0.5509803979068129,Neutral,Neutral,False,0.061,,,,,,,,,,15.2,,False,15.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.74,-,-0.1189,2.6497,-6.105,loss_of_function,-1.59771309706537,0.7760695705738636,,,0.2297,benign,0.037810706,neutral,0.035915068,neutral,https://doi.org/10.1101/2022.10.22.513328 +P730A,NP_000240:p.Pro730Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.65671,1.66599,0.6412429036592828,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.11,-,-0.0958,1.3944,-1.9351,loss_of_function,-1.99463934729138,0.7270686399979067,,,0.2378,benign,0.199450748,stabilizing,-0.853124965,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730C,NP_000240:p.Pro730Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.11699,1.97823,0.958417622362306,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.11,-,-0.1548,1.3944,-7.105,loss_of_function,-3.43609881150682,0.5491190710443332,,,0.6839,pathogenic,0.094986329,neutral,-0.877410652,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730D,NP_000240:p.Pro730Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.17271,3.74116,3.0588158077597947,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.11,-,-0.2566,1.3944,-21.9777,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9939,pathogenic,0.745974294,stabilizing,-1.014027813,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730E,NP_000240:p.Pro730Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.65608,4.76939,3.616422831845807,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.1726,1.3944,-8.6899,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9764,pathogenic,0.674079114,stabilizing,-0.975721312,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730F,NP_000240:p.Pro730Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),9.04084,5.66122,2.793703100553507,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2592,1.3944,-21.9777,loss_of_function,-3.64836015305031,0.5229152025548854,,,0.8375,pathogenic,0.2933791,stabilizing,-1.003847985,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730G,NP_000240:p.Pro730Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.95658,4.34762,3.186439685786068,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,,,,88.11,-,-0.1303,1.3944,-5.8826,loss_of_function,-3.08352484687152,0.5926446689460769,,,0.8734,pathogenic,0.259948,stabilizing,-1.021607923,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730H,NP_000240:p.Pro730His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),18.06702,5.72041,3.129603555629219,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2368,1.3944,-21.9777,loss_of_function,-3.64836015305031,0.5229152025548854,,,0.9108,pathogenic,0.014975573,neutral,-0.993415125,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730I,NP_000240:p.Pro730Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61652,1.04762,0.2461711237614544,Neutral,Neutral,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2422,1.3944,-21.9777,loss_of_function,-3.12845037820891,0.5870985685284352,,,0.4442,ambiguous,0.08111905,neutral,-0.718989219,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730K,NP_000240:p.Pro730Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.80071,9.30272,6.104113585261578,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.1643,1.3944,-8.6899,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9828,pathogenic,-0.083588698,destabilizing,-1.002205851,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730L,NP_000240:p.Pro730Leu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09406,2.17347,0.6103550497298584,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,840441,Uncertain significance,2,88.11,-,-0.1739,1.3944,-7.6899,loss_of_function,-1.93494050267647,0.7344385202685473,,,0.2221,benign,0.139315039,stabilizing,-0.762531855,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730M,NP_000240:p.Pro730Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08918,2.84796,1.3496523570848944,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.1977,1.3944,-21.9777,loss_of_function,-3.65760212189775,0.5217742725367255,,,0.6394,pathogenic,0.261725889,stabilizing,-1.009655306,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730N,NP_000240:p.Pro730Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.45251,3.18333,1.7799716091841993,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.11,-,-0.2248,1.3944,-21.9777,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9784,pathogenic,0.367007223,stabilizing,-1.038704498,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730Q,NP_000240:p.Pro730Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),7.09645,3.90986,2.4226919032929963,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2265,1.3944,-21.9777,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9111,pathogenic,0.252781849,stabilizing,-0.994961897,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730R,NP_000240:p.Pro730Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),13.24694,9.51497,5.030454792802607,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2001,1.3944,-8.6899,loss_of_function,-4.41609802126969,0.42813721808111943,,,0.9387,pathogenic,0.026590945,neutral,-0.904672447,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730S,NP_000240:p.Pro730Ser,"hg19,3:g.37092061C>T, hg38,3:g.37050570C>T",,,0.887,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.38305,3.12211,1.8329789290114136,Destabilizing,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,DOWN,-,destabilizing,neutral,2566510,Uncertain significance,1,88.11,-,-0.1197,1.3944,-6.69,loss_of_function,-3.43609881150682,0.5491190710443332,,,0.6704,pathogenic,0.232225122,stabilizing,-1.0207814,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730T,NP_000240:p.Pro730Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.80797,2.7034,0.9022384018166002,Uncertain,Uncertain,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.11,-,-0.134,1.3944,-7.105,loss_of_function,-3.43609881150682,0.5491190710443332,,,0.5209,ambiguous,0.14134711,stabilizing,-0.887260988,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730V,NP_000240:p.Pro730Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31906,0.11769,-0.3706058227961106,Neutral,Neutral,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.1196,1.3944,-6.69,loss_of_function,-2.05141081298267,0.7200601474947018,,,0.304,benign,0.036727974,neutral,-0.330153991,neutral,https://doi.org/10.1101/2022.10.22.513328 +P730W,NP_000240:p.Pro730Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),20.49698,11.19252,4.967578652041957,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.1937,1.3944,-6.69,loss_of_function,-2.54414259661017,0.6592319308969063,,,0.967,pathogenic,0.296094004,stabilizing,-1.039526602,damaging,https://doi.org/10.1101/2022.10.22.513328 +P730Y,NP_000240:p.Pro730Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),12.14664,7.21361,3.960673910792884,Destabilizing,Destabilizing,False,0.039,,,,,,,,,,0.1,,False,0.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.11,-,-0.2601,1.3944,-21.9777,loss_of_function,-3.25115667571067,0.5719503570869073,,,0.9353,pathogenic,0.322351547,stabilizing,-0.917620736,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731A,NP_000240:p.Pro731Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91225,1.10714,0.1795895746798703,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.78,B,-0.151,1.0574,-6.69,loss_of_function,-1.40536262284308,0.7998154231806186,,,0.1666,benign,0.13977699,stabilizing,-0.504753802,neutral,https://doi.org/10.1101/2022.10.22.513328 +P731C,NP_000240:p.Pro731Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.12524,1.80272,0.8057119079734593,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.78,B,-0.2617,1.0574,-21.9777,loss_of_function,-3.70253721504775,0.5162269917040428,,,0.5613,ambiguous,0.118412662,stabilizing,-0.737893607,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731D,NP_000240:p.Pro731Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05054,1.75306,0.9448647190056632,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.78,B,-0.2198,1.0574,-8.6899,loss_of_function,-2.89553611633172,0.6158520600646988,,,0.8011,pathogenic,0.266065979,stabilizing,-0.919587081,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731E,NP_000240:p.Pro731Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.28566,2.21293,0.5449052956731415,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2714,1.0574,-21.9777,loss_of_function,-3.55209362601897,0.5347993986874547,,,0.5813,pathogenic,0.412088909,stabilizing,-1.00972401,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731F,NP_000240:p.Pro731Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48207,1.31667,-0.3697966815303016,Neutral,Neutral,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2902,1.0574,-21.9777,loss_of_function,-4.58230125528439,0.40761926763864664,,,0.8331,pathogenic,0.344251599,stabilizing,-0.983569894,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731G,NP_000240:p.Pro731Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.22976,2.00884,1.4736243667742903,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.78,B,-0.1705,1.0574,-7.6899,loss_of_function,-4.58230125528439,0.40761926763864664,,,0.4846,ambiguous,0.094630806,neutral,-0.05527283,neutral,https://doi.org/10.1101/2022.10.22.513328 +P731H,NP_000240:p.Pro731His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.87975,1.52857,0.0553652103343565,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,1327071,Uncertain significance,1,89.78,B,-0.2678,1.0574,-21.9777,loss_of_function,-4.58230125528439,0.40761926763864664,,,0.3926,ambiguous,0.190525973,stabilizing,-0.833746648,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731I,NP_000240:p.Pro731Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.41621,1.45918,-0.4680652794379847,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2732,1.0574,-21.9777,loss_of_function,-4.24454449714114,0.4493156670274848,,,0.6934,pathogenic,0.419625565,stabilizing,-1.022404781,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731K,NP_000240:p.Pro731Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.45592,1.37925,0.3321647879700612,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.1953,1.0574,-8.6899,loss_of_function,-3.09464666295198,0.5912716699637045,,,0.4384,ambiguous,0.082947395,neutral,-0.427167511,neutral,https://doi.org/10.1101/2022.10.22.513328 +P731L,NP_000240:p.Pro731Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.101,0.2415,-0.6626134649195892,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.21,1.0574,-8.6899,loss_of_function,-4.24454449714114,0.4493156670274848,,,0.2956,benign,0.231799166,stabilizing,-0.838493936,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731M,NP_000240:p.Pro731Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08111,0.7102,-0.2093574423360361,Neutral,Neutral,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2287,1.0574,-21.9777,loss_of_function,-4.24454449714114,0.4493156670274848,,,0.6275,pathogenic,0.249346401,stabilizing,-0.874250691,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731N,NP_000240:p.Pro731Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.94433,1.57823,0.4743842602414028,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.78,B,-0.2558,1.0574,-21.9777,loss_of_function,-3.97687859913005,0.4823592817506844,,,0.6595,pathogenic,0.099431978,neutral,-0.570707189,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731Q,NP_000240:p.Pro731Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.34672,0.63844,0.1904832948351953,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.1897,1.0574,-8.6899,loss_of_function,-3.44020991378332,0.5486115514808709,,,0.3123,benign,0.074177263,neutral,-0.603054661,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731R,NP_000240:p.Pro731Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.44042,0.64796,-0.0423025936456261,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2989,1.0574,-21.9777,loss_of_function,-3.38356971356268,0.5556038391344074,,,0.2568,benign,-0.038141224,neutral,-0.263828234,neutral,https://doi.org/10.1101/2022.10.22.513328 +P731S,NP_000240:p.Pro731Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.25293,2.23673,0.5042347468938798,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,DOWN,-,neutral,neutral,234735,Uncertain significance,2,89.78,B,-0.1415,1.0574,-4.8826,loss_of_function,-2.16416017419225,0.7061411294958462,,,0.2352,benign,0.165365536,stabilizing,-0.441699618,neutral,https://doi.org/10.1101/2022.10.22.513328 +P731T,NP_000240:p.Pro731Thr,"hg19,3:g.37092064C>A",,,0.709,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.08573,1.99694,0.2105071853834245,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.78,B,-0.1421,1.0574,-2.6239,loss_of_function,-2.49360143603769,0.6654712861903147,,,0.2495,benign,0.17231914,stabilizing,-0.806247455,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731V,NP_000240:p.Pro731Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.96679,1.28571,-0.2302719318714413,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2286,1.0574,-21.9777,loss_of_function,-3.84460057466587,0.4986891321695047,,,0.4666,ambiguous,0.196204066,stabilizing,-0.928723425,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731W,NP_000240:p.Pro731Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.79875,0.89694,-0.5659751302933153,Uncertain,Uncertain,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.3027,1.0574,-21.9777,loss_of_function,-4.58230125528439,0.40761926763864664,,,0.8515,pathogenic,0.440746822,stabilizing,-1.047834743,damaging,https://doi.org/10.1101/2022.10.22.513328 +P731Y,NP_000240:p.Pro731Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.89312,1.1449,-0.2763171764425176,Neutral,Neutral,False,0.016,,,,,,,,,,5.6,,False,5.6,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.78,B,-0.2912,1.0574,-21.9777,loss_of_function,-4.58230125528439,0.40761926763864664,,,0.7791,pathogenic,0.442777732,stabilizing,-1.008763893,damaging,https://doi.org/10.1101/2022.10.22.513328 +K732A,NP_000240:p.Lys732Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08743,1.0381,0.3083577034831175,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.0452,2.078,-5.3646,loss_of_function,-1.03403374348313,0.8456563334958327,,,0.1819,benign,0.065504434,neutral,0.017396111,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732C,NP_000240:p.Lys732Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.35306,1.5432,1.0280745402738505,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.2001,2.078,-21.9742,loss_of_function,-1.71336247249503,0.7617925430067657,,,0.4336,ambiguous,0.210842833,stabilizing,0.006473592,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732D,NP_000240:p.Lys732Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14484,2.20646,0.3866535598845028,Uncertain,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.163,2.078,-7.1015,loss_of_function,-1.60497828680875,0.7751726758534115,,,0.3848,ambiguous,0.24010225,stabilizing,-0.019667036,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732E,NP_000240:p.Lys732Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39516,1.35544,0.1560256394914816,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,479701,Uncertain significance,2,88.46,G,-0.0738,2.078,-6.1015,loss_of_function,-0.468722954952496,0.9154444986445377,,,0.1025,benign,0.131293326,stabilizing,0.096779655,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732F,NP_000240:p.Lys732Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73041,1.28741,-0.2876830222033133,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.46,G,-0.201,2.078,-21.9742,loss_of_function,-2.52795946397945,0.6612297543164658,,,0.5827,pathogenic,0.260144653,stabilizing,0.056607676,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732G,NP_000240:p.Lys732Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70735,2.18435,1.0217460232935127,Uncertain,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.1111,2.078,-6.6865,loss_of_function,-1.21839963061891,0.8228961859092949,,,0.2206,benign,0.111851054,stabilizing,-0.012951805,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732H,NP_000240:p.Lys732His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55582,1.25374,0.0056161710152963,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.062,2.078,-6.6865,loss_of_function,-1.65742236042618,0.7686984040989362,,,0.2279,benign,0.114827079,stabilizing,0.065648579,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732I,NP_000240:p.Lys732Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62066,0.8568,-0.2699602233998804,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.46,G,-0.1683,2.078,-21.9742,loss_of_function,-3.05598385429083,0.5960446311926427,,,0.2295,benign,-0.031715823,neutral,-0.106954486,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732L,NP_000240:p.Lys732Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80036,1.00612,-0.5574997593953518,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.46,G,-0.167,2.078,-21.9742,loss_of_function,-3.05598385429083,0.5960446311926427,,,0.2206,benign,0.180282123,stabilizing,-0.047120032,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732M,NP_000240:p.Lys732Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30697,1.24456,-0.0802461471737098,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.0671,2.078,-7.6864,loss_of_function,-3.05598385429083,0.5960446311926427,,,0.1697,benign,0.186345428,stabilizing,-0.114009116,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732N,NP_000240:p.Lys732Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.18494,1.57551,0.3039279336775036,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.0595,2.078,-4.599,loss_of_function,-1.03697394154164,0.8452933631937614,,,0.2689,benign,0.100766321,neutral,-0.011659357,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732P,NP_000240:p.Lys732Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23852,4.10238,1.86302761001847,Uncertain,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.2211,2.078,-5.6865,loss_of_function,-1.80409840420847,0.7505911042304101,,,0.3988,ambiguous,0.205757992,stabilizing,-0.541250279,damaging,https://doi.org/10.1101/2022.10.22.513328 +K732Q,NP_000240:p.Lys732Gln,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.58031,0.58946,0.2950414076280216,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,495765,Uncertain significance,2,88.46,G,-0.0461,2.078,-5.6865,loss_of_function,-0.54020359410671,0.9066201444106561,,,0.0958,benign,0.13916129,stabilizing,0.040858791,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732R,NP_000240:p.Lys732Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19633,0.5619,-0.2688916666793367,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.46,G,0.0288,2.078,-3.8791,gain_of_function,-0.0578340270317211,0.9661691353245531,,,0.0674,benign,0.106385443,neutral,0.066225962,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732S,NP_000240:p.Lys732Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.89624,1.4619,0.5344074463485645,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.0492,2.078,-4.1629,loss_of_function,-0.768531455229,0.8784328484960134,,,0.2093,benign,0.09118546,neutral,0.118216232,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732T,NP_000240:p.Lys732Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95205,1.31259,0.2759014706974383,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,1497563,Uncertain significance,1,88.46,G,-0.0593,2.078,-3.8285,loss_of_function,-0.644908818463789,0.8936941829083875,,,0.1259,benign,0.120506371,stabilizing,0.119254711,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732V,NP_000240:p.Lys732Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.07042,0.81939,-0.1106779435101551,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,88.46,G,-0.1522,2.078,-21.9742,loss_of_function,-3.05598385429083,0.5960446311926427,,,0.2038,benign,0.142340879,stabilizing,0.056242595,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732W,NP_000240:p.Lys732Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31026,0.82585,-0.67648148272412,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.46,G,-0.1422,2.078,-8.6864,loss_of_function,-2.52795946397945,0.6612297543164658,,,0.5728,pathogenic,0.567338884,stabilizing,-0.087502351,neutral,https://doi.org/10.1101/2022.10.22.513328 +K732Y,NP_000240:p.Lys732Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91413,1.02483,-0.1851949928794355,Neutral,Neutral,False,0.007,,,,,,,Uncertain,Uncertain,Uncertain,64.3,,False,64.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.46,G,-0.113,2.078,-7.6864,loss_of_function,-1.8060494360436,0.7503502474580241,,,0.4379,ambiguous,0.247322598,stabilizing,-0.048673395,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733A,NP_000240:p.His733Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.53481,-0.0381,0.57247961307511,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0822,3.1395,-4.5201,gain_of_function,-0.433568294522606,0.9197843755717139,,,0.1133,benign,0.055417532,neutral,0.026397095,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733C,NP_000240:p.His733Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20471,0.37687,1.3048418975164733,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0064,3.1395,-8.6899,gain_of_function,-0.192337658348205,0.9495645315811618,,,0.0822,benign,-0.036965851,neutral,0.04866772,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733D,NP_000240:p.His733Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14494,0.08435,0.803638956961509,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0337,3.1395,-4.7831,gain_of_function,-0.42566822801678,0.9207596464442677,,,0.1042,benign,-0.037919419,neutral,0.046451617,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733E,NP_000240:p.His733Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56632,0.10748,0.5433148865590994,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0217,3.1395,-4.8826,gain_of_function,-0.989667537845605,0.8511333846133264,,,0.1382,benign,-0.033875464,neutral,-0.017608729,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733F,NP_000240:p.His733Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38624,0.01259,-0.0766442148988622,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,-0.0285,3.1395,-21.9777,loss_of_function,-1.48975392856581,0.7893972346365775,,,0.1961,benign,0.223825932,stabilizing,-0.264228635,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733G,NP_000240:p.His733Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14484,0.99796,1.3382874486270162,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0008,3.1395,-4.2977,gain_of_function,-0.814909159198349,0.8727074759584694,,,0.1214,benign,-0.024908216,neutral,-0.118680313,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733I,NP_000240:p.His733Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.99027,0.16088,0.2895340922922923,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,-0.0134,3.1395,-6.368,loss_of_function,-0.711740389039855,0.8854437606996893,,,0.1452,benign,0.156888308,stabilizing,-0.147526959,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733K,NP_000240:p.His733Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.26253,0.15238,0.3657796223207787,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,0.0401,3.1395,-4.3681,gain_of_function,-0.5425779021775,0.9063270337764351,,,0.1052,benign,0.003964297,neutral,0.082955537,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733L,NP_000240:p.His733Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.12978,0.16973,-0.1017454465256739,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,0.0244,3.1395,-6.105,gain_of_function,-1.36208874780878,0.8051576250256741,,,0.0874,benign,0.225384534,stabilizing,-0.175548556,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733M,NP_000240:p.His733Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.01248,0.53776,0.2512512948797113,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,0.0661,3.1395,-7.6899,gain_of_function,-0.90993231061633,0.8609767757513405,,,0.2636,benign,0.087158667,neutral,-0.084330965,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733N,NP_000240:p.His733Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.03385,0.16293,0.6083693522959451,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0763,3.1395,-4.3681,gain_of_function,-0.343345924699658,0.9309224146345757,,,0.0669,benign,-0.102119478,destabilizing,0.040158739,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733P,NP_000240:p.His733Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.85153,3.64932,1.656170732345486,Uncertain,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,820871,Uncertain significance,1,88.87,G,-0.0921,3.1395,-6.69,loss_of_function,-0.66443185236391,0.8912840454376934,,,0.1006,benign,0.171873668,stabilizing,-0.561454181,damaging,https://doi.org/10.1101/2022.10.22.513328 +H733Q,NP_000240:p.His733Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82844,-0.25068,0.528439857261477,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.1089,3.1395,-5.5201,gain_of_function,-0.43237120158837,0.9199321578555262,,,0.088,benign,0.009586515,neutral,0.008880907,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733R,NP_000240:p.His733Arg,"hg38,3:g.37050580A>G",,3.9802896059e-06,0.502,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.20874,0.11122,0.0391923364934898,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,479690,Uncertain significance,2,88.87,G,0.0508,3.1395,-3.5607,gain_of_function,-0.265522312995554,0.9405298149818988,,,0.0591,benign,-0.018819889,neutral,0.045827065,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733S,NP_000240:p.His733Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20262,-0.12517,0.6830080271870714,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0886,3.1395,-2.105,gain_of_function,-0.398248618900248,0.9241446237844512,,,0.0987,benign,-0.022286778,neutral,0.031181961,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733T,NP_000240:p.His733Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64605,0.51327,0.6150432688189164,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,0.0326,3.1395,-4.2977,gain_of_function,-0.412380706536651,0.9224000038587837,,,0.1079,benign,-0.061289898,neutral,0.091220347,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733V,NP_000240:p.His733Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.42924,0.27415,0.433972582362821,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.87,G,-0.0495,3.1395,-21.9777,loss_of_function,-1.64249162031631,0.7705416184470798,,,0.1263,benign,0.10415862,neutral,-0.021805736,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733W,NP_000240:p.His733Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.69303,-0.1381,-0.5882317391009739,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.87,G,0.0231,3.1395,-8.6899,gain_of_function,-1.48975392856581,0.7893972346365775,,,0.2258,benign,0.088831306,neutral,-0.064008389,neutral,https://doi.org/10.1101/2022.10.22.513328 +H733Y,NP_000240:p.His733Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24258,-0.08367,-0.0438180975817081,Neutral,Neutral,False,0.013,,,,,,,Uncertain,Uncertain,Uncertain,57.2,,False,57.2,,neutral,neutral,neutral,UP,-,neutral,neutral,479712,Likely benign,3,88.87,G,0.0213,3.1395,-21.9777,gain_of_function,-1.48975392856581,0.7893972346365775,,,0.0764,benign,0.058960527,neutral,-0.080373208,neutral,https://doi.org/10.1101/2022.10.22.513328 +F734A,NP_000240:p.Phe734Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.31001,2.07891,3.511343120914932,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.2072,1.8791,-8.6864,loss_of_function,-2.1881107767928,0.7031844043747094,,,0.5027,ambiguous,0.116520238,stabilizing,-0.712977196,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734C,NP_000240:p.Phe734Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.47704,2.17891,3.835370772316409,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.161,1.8791,-5.8791,loss_of_function,-1.1219904361779,0.8347979944719633,,,0.1756,benign,0.133635745,stabilizing,-0.532961513,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734D,NP_000240:p.Phe734Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.44046,2.89762,4.580680163679521,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.398,1.8791,-21.9742,loss_of_function,-3.7349228619114,0.5122289521873327,,,0.8469,pathogenic,0.118891816,stabilizing,-1.00625509,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734E,NP_000240:p.Phe734Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89332,2.91803,4.123644251438918,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.2894,1.8791,-6.6865,loss_of_function,-3.7349228619114,0.5122289521873327,,,0.8834,pathogenic,0.121814091,stabilizing,-1.076781921,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734G,NP_000240:p.Phe734Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.04378,3.79116,5.500597496658268,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3104,1.8791,-21.9742,loss_of_function,-3.9691030573639,0.4833191799233465,,,0.7324,pathogenic,0.122157273,stabilizing,-0.958920378,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734H,NP_000240:p.Phe734His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.07637,1.81361,2.254682392899211,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3026,1.8791,-21.9742,loss_of_function,-2.55598798626117,0.6577696060554443,,,0.5624,ambiguous,-0.003740424,neutral,-0.717298263,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734I,NP_000240:p.Phe734Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.05916,1.91565,2.3546515610466434,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.135,1.8791,-5.5166,loss_of_function,-1.95021439882123,0.7325529429750637,,,0.1261,benign,0.02667518,neutral,-0.42108069,neutral,https://doi.org/10.1101/2022.10.22.513328 +F734K,NP_000240:p.Phe734Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.48801,5.39966,4.14162805468673,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3013,1.8791,-7.6864,loss_of_function,-2.55005108694548,0.6585025220342665,,,0.8575,pathogenic,0.22682979,stabilizing,-1.016042209,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734L,NP_000240:p.Phe734Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63831,1.61905,1.4700870911551691,Neutral,Neutral,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.0763,1.8791,-1.4386,loss_of_function,-0.593156464239589,0.9000830612328581,,,0.4522,ambiguous,-0.013061279,neutral,0.04685473,neutral,https://doi.org/10.1101/2022.10.22.513328 +F734M,NP_000240:p.Phe734Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.51032,1.48027,1.7877402723689018,Neutral,Neutral,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.1234,1.8791,-4.599,loss_of_function,-1.44525164578331,0.7948910846096019,,,0.3086,benign,-0.044792589,neutral,0.056295471,neutral,https://doi.org/10.1101/2022.10.22.513328 +F734N,NP_000240:p.Phe734Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.95438,2.36224,3.448014815827655,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3277,1.8791,-21.9742,loss_of_function,-3.7349228619114,0.5122289521873327,,,0.6979,pathogenic,0.20972696,stabilizing,-0.993235997,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734P,NP_000240:p.Phe734Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.60272,11.37993,7.728786644655063,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3984,1.8791,-21.9742,loss_of_function,-3.9691030573639,0.4833191799233465,,,0.9572,pathogenic,0.072253748,neutral,-1.00901411,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734Q,NP_000240:p.Phe734Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.41188,2.18231,3.154962067936107,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.2619,1.8791,-8.6864,loss_of_function,-3.38501296815492,0.5554256679551582,,,0.7457,pathogenic,0.107665906,neutral,-0.998311112,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734R,NP_000240:p.Phe734Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14268,4.92619,3.328158231043459,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.3027,1.8791,-7.6864,loss_of_function,-2.56240357730367,0.6569775951186564,,,0.7228,pathogenic,0.099763109,neutral,-1.091529309,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734S,NP_000240:p.Phe734Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.10958,3.34422,4.443991480817481,Destabilizing,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.176,1.8791,-6.6865,loss_of_function,-1.18463618621088,0.8270643158692081,,,0.4319,ambiguous,0.138035362,stabilizing,-0.729985281,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734T,NP_000240:p.Phe734Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.93336,2.54082,3.746846328470703,Uncertain,Destabilizing,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.2244,1.8791,-7.1015,loss_of_function,-3.15767488104446,0.5834907753080416,,,0.5596,ambiguous,0.077816807,neutral,-0.693448489,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734V,NP_000240:p.Phe734Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.43613,1.68197,2.708136677881737,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,88.44,G,-0.1455,1.8791,-8.6864,loss_of_function,-2.5389023255432,0.6598788474427523,,,0.1469,benign,0.110162526,stabilizing,-0.693819228,damaging,https://doi.org/10.1101/2022.10.22.513328 +F734W,NP_000240:p.Phe734Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.70709,1.54354,0.8448391883948242,Uncertain,Uncertain,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,88.44,G,-0.1189,1.8791,-6.3646,loss_of_function,-1.27355454730094,0.8160872579492017,,,0.3854,ambiguous,0.061354814,neutral,0.042334278,neutral,https://doi.org/10.1101/2022.10.22.513328 +F734Y,NP_000240:p.Phe734Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44859,0.55782,0.878460401171904,Neutral,Neutral,False,0.028,,,,,,,,,,4.2,,False,4.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,88.44,G,-0.094,1.8791,-7.6864,loss_of_function,-0.528330904296257,0.9080858394832814,,,0.1553,benign,0.002157134,neutral,-0.232654638,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735A,NP_000240:p.Thr735Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42949,0.43503,0.2847738927211468,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,DOWN,-,neutral,neutral,,,,83.06,G,0.0531,3.0044,-2.7558,gain_of_function,-0.189004861927965,0.9499759685317766,,,0.0629,benign,0.043919719,neutral,0.099452557,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735C,NP_000240:p.Thr735Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.01397,0.55782,0.9053976811644312,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,DOWN,-,neutral,neutral,,,,83.06,G,-0.0808,3.0044,-21.9742,loss_of_function,-1.8413281815081,0.7459950521129733,,,0.2507,benign,0.110175954,stabilizing,-0.054627437,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735D,NP_000240:p.Thr735Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57572,1.43844,0.9713478061291227,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,-,-,uncertain,neutral,,,,83.06,G,-0.1606,3.0044,-21.9742,loss_of_function,-2.24965517646089,0.6955866885427182,,,0.2998,benign,-0.003817047,neutral,0.124384622,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735E,NP_000240:p.Thr735Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.02249,0.69218,0.5154290230536379,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.06,3.0044,-7.1015,loss_of_function,-1.55559097622514,0.781269587246555,,,0.2047,benign,-0.111046731,destabilizing,0.20146039,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735F,NP_000240:p.Thr735Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.26928,0.28129,-0.0063840215554467,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.0793,3.0044,-7.6864,loss_of_function,-1.70472047834364,0.7628594055667726,,,0.1792,benign,0.042064433,neutral,-0.058692124,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735G,NP_000240:p.Thr735Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21722,1.35408,1.332175775984994,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,DOWN,-,neutral,neutral,,,,83.06,G,-0.0405,3.0044,-6.6865,loss_of_function,-1.09476029415432,0.8381595819157547,,,0.152,benign,0.127574637,stabilizing,0.109818486,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735H,NP_000240:p.Thr735His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57568,0.92619,0.1443176394011858,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.0647,3.0044,-8.6864,loss_of_function,-1.80488962498306,0.7504934272583684,,,0.1739,benign,-0.076410378,neutral,-0.038573611,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735I,NP_000240:p.Thr735Ile,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30776,0.70102,-0.1149070942343161,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,970336,Conflicting classifications of pathogenicity,1,83.06,G,0.0163,3.0044,-4.8791,gain_of_function,-1.10433483624885,0.8369775954076728,,,0.1286,benign,0.054962746,neutral,-0.04428643,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735K,NP_000240:p.Thr735Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52264,1.02891,0.2817223998922358,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.0522,3.0044,-7.1015,loss_of_function,-1.86399013663632,0.7431974117721768,,,0.1395,benign,-0.065014584,neutral,0.109170766,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735L,NP_000240:p.Thr735Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.73582,-0.07721,-0.3431131912921836,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.0227,3.0044,-2.3467,loss_of_function,-1.17573345460085,0.8281633667213778,,,0.0749,benign,0.043818436,neutral,-0.044204872,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735M,NP_000240:p.Thr735Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.85763,0.20136,-0.0185460542784787,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,0.0031,3.0044,-3.7796,gain_of_function,-1.41517280610394,0.798604346542001,,,0.0772,benign,0.025400891,neutral,0.036866574,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735N,NP_000240:p.Thr735Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30315,0.76224,0.539418298124242,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,-,-,uncertain,neutral,,,,83.06,G,-0.0158,3.0044,-5.3646,loss_of_function,-1.43473395223728,0.7961895040791501,,,0.1148,benign,-0.040060598,neutral,-0.05803998,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735P,NP_000240:p.Thr735Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.62949,5.48401,6.007052166725832,Uncertain,Uncertain,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,-,-,uncertain,neutral,,,,83.06,G,-0.2093,3.0044,-21.9742,loss_of_function,-2.85933320270595,0.620321344865625,,,0.1085,benign,0.074001234,neutral,-0.264987822,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735Q,NP_000240:p.Thr735Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.06729,0.32041,0.434396503422223,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.0423,3.0044,-8.6864,loss_of_function,-1.12704476121891,0.8341740331433745,,,0.1652,benign,-0.034052278,neutral,0.237570277,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735R,NP_000240:p.Thr735Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00679,0.95952,-0.1744768972225785,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,1419080,Uncertain significance,1,83.06,G,-0.0455,3.0044,-5.2271,loss_of_function,-0.823183857426777,0.8716859564363987,,,0.0971,benign,0.074913296,neutral,0.006125764,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735S,NP_000240:p.Thr735Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1181,0.40612,0.8315092267958374,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,neutral,,,DOWN,-,neutral,neutral,,,,83.06,G,0.0895,3.0044,-2.7323,gain_of_function,-0.112046834736807,0.9594765116314312,,,0.0839,benign,-0.029087327,neutral,-0.01934494,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735V,NP_000240:p.Thr735Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.63127,0.61531,0.0611809262793533,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,0.0342,3.0044,-3.8285,gain_of_function,-1.08805054574894,0.8389879068642985,,,0.1086,benign,0.0219658,neutral,0.118741526,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735W,NP_000240:p.Thr735Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.00908,-0.39184,-0.495488378021654,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.1451,3.0044,-21.9742,loss_of_function,-2.50574823582578,0.6639717519750862,,,0.3954,ambiguous,0.069688622,neutral,-0.13360468,neutral,https://doi.org/10.1101/2022.10.22.513328 +T735Y,NP_000240:p.Thr735Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.11753,0.97789,0.0973544535245157,Neutral,Neutral,False,0.023,,,,,,,Uncertain,Uncertain,Uncertain,37.5,,False,37.5,,uncertain,,,UP,-,neutral,neutral,,,,83.06,G,-0.1537,3.0044,-21.9742,loss_of_function,-2.28277197270445,0.6914983879259039,,,0.2083,benign,-0.007369174,neutral,-0.089064359,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736A,NP_000240:p.Glu736Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29915,0.57007,0.1149791035073255,Neutral,Neutral,False,0.008,-0.08098,,,-0.01139,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.0249,2.3105,-5.9425,loss_of_function,-1.65265172669366,0.769287343460335,,,0.1188,benign,0.038194595,neutral,-0.118926873,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736C,NP_000240:p.Glu736Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5163,0.63707,0.6002278993211629,Neutral,Neutral,False,0.008,-0.07596,,,-0.03767,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.1753,2.3105,-21.8152,loss_of_function,-2.45163449088924,0.6706521462733483,,,0.6564,pathogenic,0.217818399,stabilizing,-0.142498341,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736D,NP_000240:p.Glu736Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.0021,0.4381,0.0012117358319829,Neutral,Neutral,False,0.008,0.0227,,,-0.13634,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,0.0207,2.3105,-3.7201,gain_of_function,-0.19893324925299,0.9487502994867897,,,0.1084,benign,-0.060282151,neutral,0.086869145,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736F,NP_000240:p.Glu736Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43362,0.13639,-0.4183673673510918,Neutral,Neutral,False,0.008,-0.08354,,,-0.09468,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1529,2.3105,-21.8152,loss_of_function,-2.68842630155927,0.6414199675777079,,,0.6376,pathogenic,0.567187112,stabilizing,-0.180728195,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736G,NP_000240:p.Glu736Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.77906,1.31122,0.5429456924175166,Neutral,Neutral,False,0.008,-0.08166,,,-0.07003,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.052,2.3105,-6.2055,loss_of_function,-1.81000256643691,0.7498622296767613,,,0.101,benign,0.098439921,neutral,-0.171750112,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736H,NP_000240:p.Glu736His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.065,0.1602,-0.3907139881190363,Neutral,Neutral,False,0.008,-0.12186,,,-0.02026,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.0611,2.3105,-5.5275,loss_of_function,-1.60344543585406,0.7753619077905064,,,0.2797,benign,0.169784097,stabilizing,-0.104548321,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736I,NP_000240:p.Glu736Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13853,0.30578,-0.2434765785052745,Neutral,Neutral,False,0.008,-0.06976,,,0.04858,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1582,2.3105,-21.8152,loss_of_function,-2.88490573635164,0.617164390783827,,,0.3032,benign,0.331794471,stabilizing,-0.116102573,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736K,NP_000240:p.Glu736Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59153,-0.2119,-0.2713918245943508,Neutral,Neutral,False,0.008,-0.11056,,,0.00541,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.0317,2.3105,-2.9729,loss_of_function,-1.56377072269103,0.780259789611665,,,0.0837,benign,-0.04707544,neutral,-0.156954322,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736L,NP_000240:p.Glu736Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.35941,-0.17347,-0.5333254186905861,Neutral,Neutral,False,0.008,-0.08082,,,0.01711,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1604,2.3105,-21.8152,loss_of_function,-2.1982945402008,0.7019272089045855,,,0.3156,benign,0.286470198,stabilizing,-0.117214177,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736M,NP_000240:p.Glu736Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01106,0.72823,-0.2191865655051911,Neutral,Neutral,False,0.008,-0.0762,,,0.07025,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1092,2.3105,-21.8152,loss_of_function,-2.88490573635164,0.617164390783827,,,0.3571,ambiguous,0.226951899,stabilizing,-0.237084662,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736N,NP_000240:p.Glu736Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27978,0.29218,-0.1191644930095592,Neutral,Neutral,False,0.008,-0.09398,,,-0.0424,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.0415,2.3105,-4.068,loss_of_function,-0.98796236357998,0.8513438900302956,,,0.1788,benign,0.034524994,neutral,-0.135748072,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736P,NP_000240:p.Glu736Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.69598,5.86463,3.570862862066272,Uncertain,Uncertain,False,0.008,-0.10992,,,0.05456,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.2629,2.3105,-21.8152,loss_of_function,-3.15677198852001,0.583602238265916,,,0.5915,pathogenic,0.025700304,neutral,-0.589647583,damaging,https://doi.org/10.1101/2022.10.22.513328 +E736Q,NP_000240:p.Glu736Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.58091,-0.56871,-0.0048497064302477,Neutral,Neutral,False,0.008,-0.0964,,,-0.01842,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,0.0115,2.3105,-4.2055,gain_of_function,-0.412745613155036,0.922354955782815,,,0.1065,benign,0.119501607,stabilizing,-0.125287797,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736R,NP_000240:p.Glu736Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.45884,-0.08095,-0.4536933320380421,Neutral,Neutral,False,0.008,-0.12972,,,0.0353,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1012,2.3105,-4.7201,loss_of_function,-1.71183005566688,0.7619817213505181,,,0.1425,benign,0.136114497,stabilizing,-0.22574447,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736S,NP_000240:p.Glu736Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.1885,0.41224,0.1329795568075914,Neutral,Neutral,False,0.008,-0.0931,,,-0.04473,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.0383,2.3105,-5.9425,loss_of_function,-1.37047797946343,0.8041219662410484,,,0.1395,benign,0.049478629,neutral,-0.030237047,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736T,NP_000240:p.Glu736Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28258,-0.05884,0.0417647925590203,Neutral,Neutral,False,0.008,-0.09306,,,0.00958,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,82.73,T,-0.0531,2.3105,-5.7201,loss_of_function,-1.44917729233809,0.7944064597348626,,,0.1503,benign,0.02884442,neutral,0.038945403,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736V,NP_000240:p.Glu736Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09154,0.00272,-0.1748470402212709,Neutral,Neutral,False,0.008,-0.07622,,,-0.22145,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,82.73,T,-0.0513,2.3105,-8.5273,loss_of_function,-2.88490573635164,0.617164390783827,,,0.173,benign,0.190966104,stabilizing,-0.047754362,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736W,NP_000240:p.Glu736Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.74294,0.99388,-0.6548318874062364,Neutral,Neutral,False,0.008,-0.09644,,,0.09121,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.163,2.3105,-21.8152,loss_of_function,-2.68842630155927,0.6414199675777079,,,0.7543,pathogenic,0.598964476,stabilizing,-0.228964364,neutral,https://doi.org/10.1101/2022.10.22.513328 +E736Y,NP_000240:p.Glu736Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4106,-0.12789,-0.3159142325990011,Neutral,Neutral,False,0.008,-0.08268,,,0.00526,,,Uncertain,Neutral,Uncertain,92.2,,False,92.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,82.73,T,-0.1537,2.3105,-21.8152,loss_of_function,-2.68842630155927,0.6414199675777079,,,0.4671,ambiguous,0.553790534,stabilizing,-0.21364926,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737A,NP_000240:p.Asp737Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.08491,0.05782,0.3608059342706299,Neutral,Neutral,False,0.005,-0.23664,,,-0.00927,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,83.47,S,-0.118,1.5914,-5.7201,loss_of_function,-1.95058394916044,0.7325073216272551,,,0.2473,benign,-0.018984453,neutral,-0.205753502,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737C,NP_000240:p.Asp737Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.25458,0.21224,1.0158656311606606,Neutral,Neutral,False,0.005,-0.23142,,,0.01128,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.47,S,-0.2416,1.5914,-21.8152,loss_of_function,-3.02554125040252,0.5998028001694564,,,0.6346,pathogenic,-0.022757575,neutral,-0.062794623,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737E,NP_000240:p.Asp737Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36753,0.32517,0.1088207006786878,Neutral,Neutral,False,0.005,-0.04024,,,0.01845,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.0721,1.5914,-7.5274,loss_of_function,-1.56206267087724,0.780470650264746,,,0.2895,benign,-0.05544161,neutral,-0.007891508,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737F,NP_000240:p.Asp737Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43883,0.69116,-0.0364061755468414,Neutral,Neutral,False,0.005,-0.21822,,,0.03369,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.3002,1.5914,-21.8152,loss_of_function,-3.37985917299268,0.5560619089666907,,,0.7283,pathogenic,0.18938229,stabilizing,-0.608591757,damaging,https://doi.org/10.1101/2022.10.22.513328 +D737G,NP_000240:p.Asp737Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30988,1.21633,1.2249106888090118,Neutral,Neutral,False,0.005,-0.24128,,,-0.02522,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,661958,Uncertain significance,2,83.47,S,-0.1281,1.5914,-5.5275,loss_of_function,-2.25376612379535,0.6950791881070011,,,0.1455,benign,-0.047418445,neutral,-0.198803262,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737H,NP_000240:p.Asp737His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25847,0.70476,-0.0181056052788236,Neutral,Neutral,False,0.005,-0.38538,,,-0.08651,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.1365,1.5914,-7.5274,loss_of_function,-2.43019487187244,0.6732988880356253,,,0.3575,ambiguous,0.047454986,neutral,-0.320076296,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737I,NP_000240:p.Asp737Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62933,0.68231,0.0724107377915345,Neutral,Neutral,False,0.005,-0.22206,,,-0.04796,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2924,1.5914,-21.8152,loss_of_function,-3.57853594648274,0.5315350685793436,,,0.5555,ambiguous,0.547607874,stabilizing,-0.512527065,damaging,https://doi.org/10.1101/2022.10.22.513328 +D737K,NP_000240:p.Asp737Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.48668,0.42449,0.4022739764590111,Neutral,Neutral,False,0.005,-0.32494,,,0.03213,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.1887,1.5914,-5.7201,loss_of_function,-2.88106171844587,0.6176389385226729,,,0.4661,ambiguous,-0.021576293,neutral,-0.209351507,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737L,NP_000240:p.Asp737Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52295,0.02721,-0.2806319440255683,Neutral,Neutral,False,0.005,-0.2344,,,-0.10733,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2183,1.5914,-8.5273,loss_of_function,-3.57853594648274,0.5315350685793436,,,0.5842,pathogenic,0.026643414,neutral,-0.553662295,damaging,https://doi.org/10.1101/2022.10.22.513328 +D737M,NP_000240:p.Asp737Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55088,0.65952,-0.0300944568394107,Neutral,Neutral,False,0.005,-0.23026,,,-0.00299,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2248,1.5914,-21.8152,loss_of_function,-3.57853594648274,0.5315350685793436,,,0.7262,pathogenic,0.098497539,neutral,-0.347446545,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737N,NP_000240:p.Asp737Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.51182,0.48571,0.1535830987326575,Neutral,Neutral,False,0.005,-0.23594,,,0.01751,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,-,-,uncertain,neutral,629824,Uncertain significance,1,83.47,S,-0.072,1.5914,-3.2421,loss_of_function,-0.79661258678079,0.8749662055695754,,,0.086,benign,-0.014975683,neutral,-0.145031476,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737P,NP_000240:p.Asp737Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.69696,6.77483,4.4429690316111445,Destabilizing,Destabilizing,False,0.005,-0.24816,,,0.1158,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.47,S,-0.3371,1.5914,-21.8152,loss_of_function,-2.69347214355997,0.640797053488673,,,0.8277,pathogenic,-0.002369636,neutral,-0.524621749,damaging,https://doi.org/10.1101/2022.10.22.513328 +D737Q,NP_000240:p.Asp737Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12235,0.24966,0.2863765205158658,Neutral,Neutral,False,0.005,-0.24072,,,-0.05618,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.1542,1.5914,-7.5274,loss_of_function,-1.79142322355436,0.7521558675760344,,,0.446,ambiguous,0.045720872,neutral,-0.052780846,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737R,NP_000240:p.Asp737Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50101,0.58776,0.1640829936965432,Neutral,Neutral,False,0.005,-0.36776,,,-0.32871,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2171,1.5914,-5.2055,loss_of_function,-2.48003384902152,0.6671462179668954,,,0.4618,ambiguous,-0.025632345,neutral,-0.231576545,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737S,NP_000240:p.Asp737Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.47149,0.17449,0.6034226759272421,Neutral,Neutral,False,0.005,-0.23958,,,-0.00216,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,83.47,S,-0.1204,1.5914,-4.9425,loss_of_function,-1.76842430865471,0.7549951059274369,,,0.1468,benign,-0.062003055,neutral,0.009996028,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737T,NP_000240:p.Asp737Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70131,0.12449,0.4647222723315597,Neutral,Neutral,False,0.005,-0.22978,,,-0.01864,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,83.47,S,-0.1555,1.5914,-5.9425,loss_of_function,-1.78390230072491,0.7530843327940017,,,0.2837,benign,-0.021445561,neutral,-0.104448988,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737V,NP_000240:p.Asp737Val,"hg38,3:g.37050592A>T",,3.9797193502e-06,0.957,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42775,-0.2415,0.1761151367137131,Neutral,Neutral,False,0.005,-0.22786,,,-0.00023,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,90090,Conflicting classifications of pathogenicity,1,83.47,S,-0.1742,1.5914,-7.5274,loss_of_function,-3.35354627596795,0.5593102616257223,,,0.3371,benign,0.051736413,neutral,-0.368478821,neutral,https://doi.org/10.1101/2022.10.22.513328 +D737W,NP_000240:p.Asp737Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56681,0.25986,-0.4843982739406938,Neutral,Neutral,False,0.005,-0.22904,,,-0.01919,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2807,1.5914,-21.8152,loss_of_function,-3.37985917299268,0.5560619089666907,,,0.9148,pathogenic,0.34535865,stabilizing,-0.713491136,damaging,https://doi.org/10.1101/2022.10.22.513328 +D737Y,NP_000240:p.Asp737Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34883,0.4517,0.047989463262183,Neutral,Neutral,False,0.005,-0.23018,,,0.02997,,,Uncertain,Neutral,Uncertain,61.2,,False,61.2,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,83.47,S,-0.2451,1.5914,-21.8152,loss_of_function,-3.37985917299268,0.5560619089666907,,,0.2682,benign,0.121764944,stabilizing,-0.507871393,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738A,NP_000240:p.Gly738Ala,"hg38,3:g.37050595G>C",,,0.718,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.63105,0.85612,1.130870419211383,Uncertain,Uncertain,False,0.01,0.3092,,,-0.14348,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.1486,1.5474,-4.0794,loss_of_function,-1.35725178118156,0.8057547532472611,,,0.2907,benign,0.030174294,neutral,0.059934882,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738C,NP_000240:p.Gly738Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.20039,1.30884,1.40538595017248,Uncertain,Uncertain,False,0.01,-0.22418,,,-0.09438,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2986,1.5474,-21.7594,loss_of_function,-2.18990300799611,0.7029631516943451,,,0.3791,ambiguous,0.089890552,neutral,-0.027536436,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738D,NP_000240:p.Gly738Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.56839,0.78435,0.5912871264290606,Uncertain,Uncertain,False,0.01,0.16686,,,-0.36348,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2211,1.5474,-6.4716,loss_of_function,-2.07417893316536,0.7172494009749597,,,0.7123,pathogenic,-0.071912762,neutral,0.309985371,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738E,NP_000240:p.Gly738Glu,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18786,0.71054,0.9168767170052584,Uncertain,Uncertain,False,0.01,0.463,,,-0.30319,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,36548,Conflicting classifications of pathogenicity,1,85.05,S,-0.2225,1.5474,-6.8867,loss_of_function,-2.04006090089513,0.7214613051503824,,,0.6443,pathogenic,0.073573379,neutral,0.145688182,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738F,NP_000240:p.Gly738Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.50525,0.25238,0.289119036143175,Uncertain,Uncertain,False,0.01,-1.09972,,,-0.10411,,,Uncertain,Uncertain,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.3367,1.5474,-21.7594,loss_of_function,-3.75541036133662,0.5096997505121132,,,0.9173,pathogenic,-0.070916063,neutral,-0.547137971,damaging,https://doi.org/10.1101/2022.10.22.513328 +G738H,NP_000240:p.Gly738His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.92922,0.22959,0.3086120080224219,Neutral,Neutral,False,0.01,-0.11562,,,-0.06672,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2385,1.5474,-7.4716,loss_of_function,-3.75541036133662,0.5096997505121132,,,0.7292,pathogenic,0.036523711,neutral,-0.185070463,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738I,NP_000240:p.Gly738Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.22334,4.06565,1.6024747542628706,Destabilizing,Uncertain,False,0.01,-0.51006,,,-0.22128,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.3824,1.5474,-21.7594,loss_of_function,-3.39462167461286,0.5542394638232767,,,0.7755,pathogenic,0.084650028,neutral,-0.66518718,damaging,https://doi.org/10.1101/2022.10.22.513328 +G738K,NP_000240:p.Gly738Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.91224,0.37279,0.5331714365777476,Neutral,Neutral,False,0.01,-0.0147,,,-0.02185,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2517,1.5474,-6.1497,loss_of_function,-2.11633399902103,0.7120453172081582,,,0.689,pathogenic,-0.066003474,neutral,-0.301888727,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738L,NP_000240:p.Gly738Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.07156,0.20034,0.4233096714098061,Uncertain,Uncertain,False,0.01,-0.90434,,,-0.36,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2777,1.5474,-7.4716,loss_of_function,-3.39462167461286,0.5542394638232767,,,0.8412,pathogenic,0.064609665,neutral,-0.562818442,damaging,https://doi.org/10.1101/2022.10.22.513328 +G738M,NP_000240:p.Gly738Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.52404,0.34524,0.5894128461138498,Neutral,Neutral,False,0.01,-1.12374,,,-0.31392,,,Uncertain,Uncertain,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.221,1.5474,-8.4715,loss_of_function,-3.39462167461286,0.5542394638232767,,,0.8162,pathogenic,0.08416248,neutral,-0.274309029,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738N,NP_000240:p.Gly738Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.09284,-0.14184,0.3388418996701753,Uncertain,Uncertain,False,0.01,0.12394,,,-0.16945,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2198,1.5474,-6.1497,loss_of_function,-2.32226797068699,0.6866225686671157,,,0.6278,pathogenic,-0.016669197,neutral,0.158356495,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738P,NP_000240:p.Gly738Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.30441,1.02687,5.428063414250242,Uncertain,Destabilizing,False,0.01,0.00848,,,0.55988,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.3965,1.5474,-21.7594,loss_of_function,-2.62736741772957,0.6489577460085396,,,0.9493,pathogenic,-0.213151505,destabilizing,-0.211820608,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738Q,NP_000240:p.Gly738Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.33522,0.15272,0.8818732799654774,Uncertain,Uncertain,False,0.01,0.1743,,,-0.37959,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2243,1.5474,-6.4716,loss_of_function,-1.90359200921103,0.7383085221922957,,,0.5807,pathogenic,-0.012381173,neutral,-0.189844292,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738R,NP_000240:p.Gly738Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.94703,0.55102,0.4393931444482069,Neutral,Neutral,False,0.01,-0.01222,,,-0.06783,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2225,1.5474,-3.5648,loss_of_function,-1.48465558208544,0.7900266304545526,,,0.457,ambiguous,0.059748378,neutral,-0.340256803,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738S,NP_000240:p.Gly738Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.54378,1.05578,1.0919278792884668,Uncertain,Uncertain,False,0.01,0.30598,,,0.00516,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.1616,1.5474,-5.4717,loss_of_function,-1.70008147111448,0.7634320955086649,,,0.1897,benign,0.023996869,neutral,0.200189926,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738T,NP_000240:p.Gly738Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93518,1.27347,1.5363013932948446,Uncertain,Uncertain,False,0.01,-0.05076,,,-0.15903,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2487,1.5474,-7.4716,loss_of_function,-2.54125315143108,0.6595886357067872,,,0.4835,ambiguous,0.03841155,neutral,-0.21330327,neutral,https://doi.org/10.1101/2022.10.22.513328 +G738V,NP_000240:p.Gly738Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.38744,4.17925,1.6553954807694398,Destabilizing,Uncertain,False,0.01,-0.32626,,,-0.24868,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.2527,1.5474,-7.4716,loss_of_function,-3.0866103366095,0.5922637622452541,,,0.6522,pathogenic,0.094060002,neutral,-0.676950077,damaging,https://doi.org/10.1101/2022.10.22.513328 +G738W,NP_000240:p.Gly738Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.93281,0.17619,0.1316744048980522,Uncertain,Uncertain,False,0.01,-0.92578,,,-0.8286,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.3365,1.5474,-21.7594,loss_of_function,-3.75541036133662,0.5096997505121132,,,0.7497,pathogenic,-0.336298271,destabilizing,-0.737464805,damaging,https://doi.org/10.1101/2022.10.22.513328 +G738Y,NP_000240:p.Gly738Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92396,0.16633,0.3617162551257613,Uncertain,Uncertain,False,0.01,-0.86472,,,-0.2663,,,Uncertain,Neutral,Uncertain,85.3,,False,85.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,85.05,S,-0.3371,1.5474,-21.7594,loss_of_function,-3.75541036133662,0.5096997505121132,,,0.7974,pathogenic,0.177070648,stabilizing,-0.545397188,damaging,https://doi.org/10.1101/2022.10.22.513328 +N739A,NP_000240:p.Asn739Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30086,-0.44048,1.1371149960882787,Neutral,Neutral,False,0.019,0.0294,,,-0.06459,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.8,S,0.0437,3.0084,-3.4748,gain_of_function,-0.371218391719254,0.9274815315470243,,,0.1407,benign,-0.016185318,neutral,0.038202564,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739C,NP_000240:p.Asn739Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.69774,-0.24014,1.4373876341760496,Neutral,Neutral,False,0.019,0.01586,,,0.03661,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.8,S,-0.0241,3.0084,-6.9772,loss_of_function,-0.306178344212404,0.935510788495199,,,0.0981,benign,0.01312147,neutral,-0.100604968,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739D,NP_000240:p.Asn739Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.3193,0.90408,1.8397624196372708,Neutral,Neutral,False,0.019,0.33034,,,-0.06275,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.8,S,0.042,3.0084,-3.1699,gain_of_function,-1.03904065146017,0.8450382258497815,,,0.1244,benign,-0.023875906,neutral,0.041336302,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739E,NP_000240:p.Asn739Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60675,2.02789,1.450726592505907,Uncertain,Neutral,False,0.019,0.5888,,,0.01266,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0075,3.0084,-7.5622,loss_of_function,-1.12222320478652,0.834769258961463,,,0.3649,ambiguous,-0.027279622,neutral,0.145284434,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739F,NP_000240:p.Asn739Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.81906,-0.04796,-0.9743317248824036,Neutral,Neutral,False,0.019,0.0327,,,-0.02228,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0313,3.0084,-6.9772,loss_of_function,-1.53991352366455,0.7832049839709891,,,0.4042,ambiguous,-0.104648477,destabilizing,0.088638151,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739G,NP_000240:p.Asn739Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84127,1.32517,2.765761049631628,Neutral,Uncertain,False,0.019,0.00096,,,-0.01481,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,87.8,S,0.0144,3.0084,-3.1699,gain_of_function,-2.66491351619065,0.6443226437369165,,,0.1988,benign,0.136832766,stabilizing,-0.062592266,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739H,NP_000240:p.Asn739His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.23261,0.72823,0.0344716434446612,Neutral,Neutral,False,0.019,0.01284,,,0.02676,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,0.0246,3.0084,-6.2403,gain_of_function,-1.49230523960647,0.7890822728140477,,,0.0779,benign,0.014048297,neutral,0.134250668,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739I,NP_000240:p.Asn739Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.86031,0.10408,-0.4465357172183415,Neutral,Neutral,False,0.019,0.06038,,,0.18497,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0275,3.0084,-7.5622,loss_of_function,-1.40226850693442,0.8001973947905786,,,0.166,benign,-0.061819597,neutral,0.132824325,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739K,NP_000240:p.Asn739Lys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.11799,1.21735,1.2709141277699687,Neutral,Neutral,False,0.019,-0.08324,,,-0.06788,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,525639,Uncertain significance,2,87.8,S,0.0196,3.0084,-7.5622,gain_of_function,-2.66491351619065,0.6443226437369165,,,0.2969,benign,-0.040480286,neutral,-0.080430461,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739L,NP_000240:p.Asn739Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-2.08707,-0.37211,-0.6253244316288276,Uncertain,Uncertain,False,0.019,0.02712,,,-0.00712,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0339,3.0084,-7.5622,loss_of_function,-1.30492611669573,0.8122144072795933,,,0.2153,benign,-0.059533694,neutral,0.045603302,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739M,NP_000240:p.Asn739Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.67477,0.27551,0.020851648818061,Neutral,Neutral,False,0.019,0.20686,,,-0.01823,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,0.012,3.0084,-7.5622,gain_of_function,-1.16088334985574,0.8299966265555322,,,0.244,benign,-0.003300124,neutral,0.036083538,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739P,NP_000240:p.Asn739Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44491,4.68537,3.628090492731925,Uncertain,Uncertain,False,0.019,0.11848,,,-0.05322,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,87.8,S,-0.2157,3.0084,-21.85,loss_of_function,-2.66491351619065,0.6443226437369165,,,0.7764,pathogenic,-0.004038833,neutral,-0.074739074,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739Q,NP_000240:p.Asn739Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.4704,0.63367,0.966809912850842,Neutral,Neutral,False,0.019,0.08798,,,0.02005,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,0.0237,3.0084,-8.5621,gain_of_function,-1.76266763923997,0.7557057723501787,,,0.2694,benign,-0.035884048,neutral,0.12148977,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739R,NP_000240:p.Asn739Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.55773,1.11054,0.449612941140759,Neutral,Neutral,False,0.019,-0.24662,,,-0.55287,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0126,3.0084,-7.5622,loss_of_function,-2.66491351619065,0.6443226437369165,,,0.2736,benign,0.022174234,neutral,-0.254581825,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739S,NP_000240:p.Asn739Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.09352,0.24456,1.850459312142432,Neutral,Neutral,False,0.019,0.03406,,,-0.01356,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1787837,Uncertain significance,1,87.8,S,0.0789,3.0084,-2.4748,gain_of_function,-0.141212171936961,0.9558760224661131,,,0.0564,benign,0.011992459,neutral,0.008365775,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739T,NP_000240:p.Asn739Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38209,0.22177,1.133593842867444,Neutral,Neutral,False,0.019,0.04154,,,0.03459,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,-,-,uncertain,neutral,1484913,Uncertain significance,1,87.8,S,0.0285,3.0084,-2.6315,gain_of_function,-0.108397068570832,0.9599270788045915,,,0.0744,benign,0.040107205,neutral,-0.049335333,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739V,NP_000240:p.Asn739Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.88699,-0.05,-0.1227730407110616,Neutral,Neutral,False,0.019,0.0428,,,0.04535,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0116,3.0084,-5.7549,loss_of_function,-1.20081404837115,0.8250671430943377,,,0.1562,benign,-0.093562414,destabilizing,0.159596284,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739W,NP_000240:p.Asn739Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.12248,0.2602,-0.8420662758666642,Neutral,Neutral,False,0.019,0.31928,,,0.0655,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.1124,3.0084,-21.85,loss_of_function,-2.21053027554697,0.7004166955084519,,,0.6211,pathogenic,-0.072903091,neutral,0.217196433,neutral,https://doi.org/10.1101/2022.10.22.513328 +N739Y,NP_000240:p.Asn739Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.66817,-0.78163,-0.6906340553074763,Neutral,Neutral,False,0.019,0.03476,,,-0.03507,,,,Neutral,,15.7,,False,15.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,87.8,S,-0.0149,3.0084,-6.9772,loss_of_function,-1.55329724867978,0.7815527501367554,,,0.1215,benign,-0.073541514,neutral,0.19835709,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740A,NP_000240:p.Ile740Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.02204,3.4568,3.724350155257941,Destabilizing,Destabilizing,False,0.037,0.0,,,-0.04009,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.2108,1.5349,-7.6794,loss_of_function,-1.19643507155166,0.8256077320299482,,,0.7532,pathogenic,0.113725039,stabilizing,-0.500408413,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740C,NP_000240:p.Ile740Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.96815,2.47551,3.437588482665012,Uncertain,Uncertain,False,0.037,-0.00642,,,0.02949,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.2637,1.5349,-21.9672,loss_of_function,-2.45056307078267,0.6707844141246931,,,0.7555,pathogenic,-0.078817925,neutral,-0.083610122,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740D,NP_000240:p.Ile740Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75208,3.84626,4.617299178611893,Destabilizing,Destabilizing,False,0.037,0.05104,,,-0.0684,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.4077,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9867,pathogenic,-0.193892261,destabilizing,-1.000766574,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740E,NP_000240:p.Ile740Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.75374,3.44116,4.23444468674665,Destabilizing,Destabilizing,False,0.037,0.04776,,,-0.00471,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.3886,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9796,pathogenic,0.046233694,neutral,-0.99559297,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740F,NP_000240:p.Ile740Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.89579,2.22891,2.599186650535535,Uncertain,Uncertain,False,0.037,0.04084,,,0.00303,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.04,E,-0.1564,1.5349,-4.6795,loss_of_function,-1.34233217642883,0.8075965929247654,,,0.2258,benign,-0.038427361,neutral,-0.185199684,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740G,NP_000240:p.Ile740Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.21072,6.30986,5.687645643863535,Destabilizing,Destabilizing,False,0.037,0.2166,,,0.13971,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.3743,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9354,pathogenic,-0.106974848,destabilizing,-0.995325341,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740H,NP_000240:p.Ile740His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.69563,3.37075,3.430727177554484,Destabilizing,Destabilizing,False,0.037,0.00662,,,0.16378,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.3743,1.5349,-21.9672,loss_of_function,-2.33069467767092,0.6855822835167424,,,0.9304,pathogenic,0.108549138,neutral,-0.968989383,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740K,NP_000240:p.Ile740Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.02418,7.22721,6.1083955664608265,Destabilizing,Destabilizing,False,0.037,0.0037,,,-0.18631,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.04,E,-0.3811,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.96,pathogenic,-0.133309515,destabilizing,-0.985005383,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740L,NP_000240:p.Ile740Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16938,1.47007,1.236127861297494,Neutral,Neutral,False,0.037,0.00214,,,-0.02125,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,91.04,E,-0.0811,1.5349,-4.7726,loss_of_function,-0.359391917446788,0.9289415212666597,,,0.1584,benign,0.006426302,neutral,-0.488852978,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740M,NP_000240:p.Ile740Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.5283,2.33776,1.903768228354024,Uncertain,Neutral,False,0.037,0.05006,,,0.01271,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,-,-,uncertain,neutral,1063733,Uncertain significance,1,91.04,E,-0.0949,1.5349,-6.3575,loss_of_function,-0.885756974343355,0.8639612444623113,,,0.1881,benign,0.032336641,neutral,-0.05554149,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740N,NP_000240:p.Ile740Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.67048,3.46429,3.247628892229057,Destabilizing,Destabilizing,False,0.037,0.0021,,,-0.01,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,486869,Uncertain significance,1,91.04,E,-0.3208,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.8734,pathogenic,-0.004494748,neutral,-1.021400081,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740P,NP_000240:p.Ile740Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),6.75722,10.35714,6.171428358968787,Destabilizing,Destabilizing,False,0.037,0.13974,,,0.94713,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.4277,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9701,pathogenic,-0.089719109,destabilizing,-0.99382288,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740Q,NP_000240:p.Ile740Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.46162,2.65204,3.3539370566039826,Uncertain,Destabilizing,False,0.037,0.0,,,-0.13057,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.3484,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9529,pathogenic,-0.180228006,destabilizing,-1.012030113,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740R,NP_000240:p.Ile740Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.32035,6.71327,5.101329711349854,Destabilizing,Destabilizing,False,0.037,0.0082,,,0.08559,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.04,E,-0.408,1.5349,-21.9672,loss_of_function,-2.73272004239569,0.6359518623101953,,,0.9289,pathogenic,-0.181769174,destabilizing,-0.968863739,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740S,NP_000240:p.Ile740Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.74508,3.71497,4.478648006191324,Destabilizing,Destabilizing,False,0.037,0.0017,,,-0.02867,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.3242,1.5349,-21.9672,loss_of_function,-2.45056307078267,0.6707844141246931,,,0.8115,pathogenic,0.075977373,neutral,-0.968678371,damaging,https://doi.org/10.1101/2022.10.22.513328 +I740T,NP_000240:p.Ile740Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.53129,2.66463,3.201359100175856,Uncertain,Uncertain,False,0.037,0.0016,,,0.12,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,449063,Uncertain significance,2,91.04,E,-0.1681,1.5349,-7.6794,loss_of_function,-2.1881768280184,0.7031762502868448,,,0.6819,pathogenic,0.084839344,neutral,-0.504446204,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740V,NP_000240:p.Ile740Val,"hg19,3:g.37092091A>G",,,0.403,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55685,0.69728,1.5144814992758215,Neutral,Neutral,False,0.037,0.0,,,-0.01426,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,91.04,E,-0.0219,1.5349,-0.9721,loss_of_function,-0.0464162249428628,0.9675786740667441,,,0.0693,benign,-0.076582221,neutral,0.073722192,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740W,NP_000240:p.Ile740Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),5.45893,2.62721,4.260839280535815,Uncertain,Destabilizing,False,0.037,0.01174,,,-0.0154,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.04,E,-0.3336,1.5349,-21.9672,loss_of_function,-2.33069467767092,0.6855822835167424,,,0.9322,pathogenic,0.22018356,stabilizing,-0.49937908,neutral,https://doi.org/10.1101/2022.10.22.513328 +I740Y,NP_000240:p.Ile740Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),10.65428,2.77211,3.856105839952936,Uncertain,Destabilizing,False,0.037,0.17092,,,0.05043,,,,Neutral,,2.0,,False,2.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,91.04,E,-0.3424,1.5349,-21.9672,loss_of_function,-2.33069467767092,0.6855822835167424,,,0.7757,pathogenic,0.043121281,neutral,-0.879491661,damaging,https://doi.org/10.1101/2022.10.22.513328 +L741A,NP_000240:p.Leu741Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.95464,0.79252,1.306616838521247,Neutral,Neutral,False,0.065,0.82668,,,0.37781,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.1773,1.7923,-7.0945,loss_of_function,-2.24136004886427,0.6966107300901071,,,0.8424,pathogenic,-0.022834965,neutral,-0.1665907,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741C,NP_000240:p.Leu741Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80273,1.06463,1.647229732955913,Neutral,Neutral,False,0.065,0.71116,,,0.36526,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.2424,1.7923,-21.9672,loss_of_function,-3.29501995695597,0.5665353924734285,,,0.8342,pathogenic,-0.031423223,neutral,-0.029950497,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741D,NP_000240:p.Leu741Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73475,2.01224,1.7729703159242387,Uncertain,Neutral,False,0.065,1.04466,,,0.39237,,,Uncertain,Uncertain,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.3747,1.7923,-21.9672,loss_of_function,-3.61161144929118,0.5274518656771461,,,0.9926,pathogenic,0.028712224,neutral,-0.771816268,damaging,https://doi.org/10.1101/2022.10.22.513328 +L741E,NP_000240:p.Leu741Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56597,0.77313,1.289568237754746,Neutral,Neutral,False,0.065,0.73744,,,0.34491,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.3428,1.7923,-21.9672,loss_of_function,-3.61161144929118,0.5274518656771461,,,0.9216,pathogenic,-0.079752618,neutral,-0.23703681,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741F,NP_000240:p.Leu741Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.37221,0.51259,0.2422253277596114,Neutral,Neutral,False,0.065,0.17052,,,0.57892,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.64,E,-0.1138,1.7923,-7.6794,loss_of_function,-2.76680971702224,0.6317434589133895,,,0.4213,ambiguous,0.145348586,stabilizing,-0.258750265,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741G,NP_000240:p.Leu741Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.5158,2.17177,2.5515814135864727,Uncertain,Uncertain,False,0.065,0.90298,,,0.38903,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.2602,1.7923,-8.6793,loss_of_function,-2.87073961556438,0.6189132121349769,,,0.9586,pathogenic,0.102633444,neutral,-0.641306736,damaging,https://doi.org/10.1101/2022.10.22.513328 +L741H,NP_000240:p.Leu741His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29239,0.85374,0.815845510861456,Neutral,Neutral,False,0.065,0.66106,,,0.20817,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.2278,1.7923,-8.6793,loss_of_function,-3.65205766345035,0.522458741309722,,,0.7369,pathogenic,0.005852006,neutral,0.023429849,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741I,NP_000240:p.Leu741Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.27848,-0.66395,0.092406985029827,Neutral,Neutral,False,0.065,-0.0343,,,-0.05214,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.64,E,-0.0342,1.7923,-3.7253,loss_of_function,-1.28329787614248,0.8148844345534922,,,0.1877,benign,-0.00748191,neutral,-0.132531164,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741K,NP_000240:p.Leu741Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.10055,0.38163,1.092403023446555,Neutral,Neutral,False,0.065,0.15134,,,0.38232,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.64,E,-0.2608,1.7923,-6.0945,loss_of_function,-2.7893308551929,0.6289632025625845,,,0.806,pathogenic,-0.24587898,destabilizing,-0.066603957,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741M,NP_000240:p.Leu741Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.38325,0.10748,0.5756981654867745,Neutral,Neutral,False,0.065,-0.53302,,,0.02253,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,-,-,uncertain,neutral,187247,Uncertain significance,2,89.64,E,-0.0685,1.7923,-5.8721,loss_of_function,-1.66010851340193,0.7683667959087342,,,0.2727,benign,-0.017278567,neutral,-0.016863606,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741N,NP_000240:p.Leu741Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72052,0.91803,1.493101582854773,Neutral,Neutral,False,0.065,0.87304,,,0.41167,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.321,1.7923,-21.9672,loss_of_function,-2.57758419254959,0.6551035334426093,,,0.946,pathogenic,-0.072999499,neutral,-0.021291075,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741P,NP_000240:p.Leu741Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),4.37312,2.36361,5.132686248251885,Uncertain,Destabilizing,False,0.065,0.78268,,,0.38404,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.3366,1.7923,-21.9672,loss_of_function,-4.16286314048015,0.45939930973142834,,,0.9878,pathogenic,-0.045240901,neutral,-0.887271272,damaging,https://doi.org/10.1101/2022.10.22.513328 +L741Q,NP_000240:p.Leu741Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60415,-0.16088,1.247823836338831,Neutral,Neutral,False,0.065,0.50516,,,0.3139,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.274,1.7923,-21.9672,loss_of_function,-2.65479285797061,0.6455720488103798,,,0.6206,pathogenic,-0.150645546,destabilizing,0.036096979,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741R,NP_000240:p.Leu741Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48026,0.44694,0.6392458559998995,Neutral,Neutral,False,0.065,0.15636,,,0.28815,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.64,E,-0.2575,1.7923,-7.0945,loss_of_function,-2.47497296282949,0.6677709892759416,,,0.6038,pathogenic,-0.07337268,neutral,0.072435355,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741S,NP_000240:p.Leu741Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16479,0.77211,1.865555126694093,Neutral,Neutral,False,0.065,0.82408,,,0.31323,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.2836,1.7923,-21.9672,loss_of_function,-2.1942552499473,0.7024258632041568,,,0.8686,pathogenic,-0.11193434,destabilizing,-0.168456677,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741T,NP_000240:p.Leu741Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.02566,0.38741,1.2235405569515811,Neutral,Neutral,False,0.065,0.59104,,,0.39631,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.1677,1.7923,-4.592,loss_of_function,-2.1177464196952,0.711870952506001,,,0.7516,pathogenic,-0.100740103,destabilizing,0.035709378,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741V,NP_000240:p.Leu741Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49156,-0.37279,0.4070763477143518,Neutral,Neutral,False,0.065,0.3968,,,0.42958,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.64,E,-0.0625,1.7923,-2.1559,loss_of_function,-1.29931255573933,0.8129074068243497,,,0.2105,benign,-0.077534234,neutral,-0.061277802,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741W,NP_000240:p.Leu741Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41421,0.84456,0.0508419626653233,Neutral,Neutral,False,0.065,-0.29884,,,0.20412,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.64,E,-0.2858,1.7923,-21.9672,loss_of_function,-3.65205766345035,0.522458741309722,,,0.7042,pathogenic,0.718386995,stabilizing,-0.369485884,neutral,https://doi.org/10.1101/2022.10.22.513328 +L741Y,NP_000240:p.Leu741Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.4494,0.23095,0.3860426372521158,Neutral,Neutral,False,0.065,0.44084,,,0.28437,,,Uncertain,Neutral,Uncertain,63.9,,False,63.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.64,E,-0.2109,1.7923,-8.6793,loss_of_function,-3.05796334752495,0.5958002608329461,,,0.8098,pathogenic,0.178814594,stabilizing,-0.336511484,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742A,NP_000240:p.Gln742Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22558,0.8017,1.3133076172370195,Neutral,Neutral,False,0.082,0.00438,,,-0.0788,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.0901,1.4405,-7.1015,loss_of_function,-3.67628331877673,0.519468060662803,,,0.5048,ambiguous,-0.001161466,neutral,0.019838227,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742C,NP_000240:p.Gln742Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56609,0.55204,1.5670063146234932,Neutral,Neutral,False,0.082,0.0026,,,0.05882,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.2122,1.4405,-21.9742,loss_of_function,-3.67628331877673,0.519468060662803,,,0.7944,pathogenic,-0.01434639,neutral,0.140955913,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742D,NP_000240:p.Gln742Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59396,0.6449,1.7363531106842072,Neutral,Neutral,False,0.082,-0.0504,,,0.06554,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.1847,1.4405,-8.6864,loss_of_function,-1.62828034244959,0.7722960144834877,,,0.9591,pathogenic,0.052173891,neutral,-0.155341901,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742E,NP_000240:p.Gln742Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.865,0.07721,1.3351351797716453,Neutral,Neutral,False,0.082,-0.0266,,,-0.01431,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.0698,1.4405,-2.1319,loss_of_function,-1.15443332390413,0.8307928885152489,,,0.1928,benign,0.052575547,neutral,0.001430344,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742F,NP_000240:p.Gln742Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.17274,0.17721,0.4435709693878958,Neutral,Neutral,False,0.082,0.00434,,,0.11743,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.1524,1.4405,-8.6864,loss_of_function,-3.32960574673912,0.56226574317935,,,0.9488,pathogenic,0.106969271,neutral,-0.034039222,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742G,NP_000240:p.Gln742Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24575,1.98231,2.49262874124642,Neutral,Uncertain,False,0.082,-0.01574,,,-0.05158,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.2366,1.4405,-21.9742,loss_of_function,-3.8172417294154,0.502066608151487,,,0.7714,pathogenic,0.049401659,neutral,-0.171999214,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742H,NP_000240:p.Gln742His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.22712,0.79728,0.9981958146499617,Neutral,Neutral,False,0.082,0.00298,,,-0.03508,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.0941,1.4405,-7.6864,loss_of_function,-1.42063393845418,0.7979301644565182,,,0.7028,pathogenic,0.113483596,stabilizing,-0.152957112,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742I,NP_000240:p.Gln742Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16127,-0.30748,0.3061246227589786,Neutral,Neutral,False,0.082,0.03974,,,0.03183,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.2016,1.4405,-21.9742,loss_of_function,-3.45286952375318,0.5470487103513196,,,0.6786,pathogenic,0.092436021,neutral,-0.263795094,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742K,NP_000240:p.Gln742Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.06698,1.16224,1.2919121861056848,Neutral,Neutral,False,0.082,0.07648,,,0.05412,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.1181,1.4405,-6.1015,loss_of_function,-1.60754957792781,0.7748552474708243,,,0.2789,benign,-0.075420048,neutral,0.086413321,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742L,NP_000240:p.Gln742Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.73909,-1.1398,0.0351714970545202,Neutral,Neutral,False,0.082,0.03434,,,0.16501,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.1069,1.4405,-6.6865,loss_of_function,-2.75865529034373,0.6327501307959693,,,0.2181,benign,0.086060818,neutral,-0.010164988,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742M,NP_000240:p.Gln742Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.58762,0.29048,0.5493233977534062,Neutral,Neutral,False,0.082,0.07176,,,-0.0441,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.0881,1.4405,-8.6864,loss_of_function,-2.57456752086298,0.6554759444882429,,,0.5739,pathogenic,0.017609788,neutral,0.281481429,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742N,NP_000240:p.Gln742Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.44227,1.27177,1.5002512827085115,Neutral,Neutral,False,0.082,0.00612,,,-0.02455,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.1816,1.4405,-21.9742,loss_of_function,-2.43847681031184,0.6722764747024876,,,0.8353,pathogenic,0.009445214,neutral,-0.251929727,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742P,NP_000240:p.Gln742Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.48181,0.2017,1.7949488934099738,Neutral,Neutral,False,0.082,-0.02242,,,0.08729,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.2565,1.4405,-5.6865,loss_of_function,-1.99829941975963,0.7266168005017344,,,0.2598,benign,-0.094884382,destabilizing,-0.023423302,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742R,NP_000240:p.Gln742Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.67571,1.19694,0.9738273118151012,Neutral,Neutral,False,0.082,0.1371,,,0.02524,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,1787984,Uncertain significance,1,90.37,E,-0.1197,1.4405,-6.6865,loss_of_function,-2.12354192156126,0.7111554921794795,,,0.3029,benign,0.090177606,neutral,0.012869461,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742S,NP_000240:p.Gln742Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.36986,1.32959,1.7156710675946796,Neutral,Neutral,False,0.082,-0.0117,,,0.01385,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.1844,1.4405,-21.9742,loss_of_function,-3.67628331877673,0.519468060662803,,,0.7143,pathogenic,-0.078296268,neutral,-0.069825179,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742T,NP_000240:p.Gln742Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.56904,0.17653,1.2012468339032445,Neutral,Neutral,False,0.082,0.03312,,,-0.03695,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,90.37,E,-0.1147,1.4405,-6.3646,loss_of_function,-3.67628331877673,0.519468060662803,,,0.6057,pathogenic,0.018578678,neutral,0.107729839,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742V,NP_000240:p.Gln742Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84593,-0.32619,0.4184251534366745,Neutral,Neutral,False,0.082,-0.00336,,,-0.08184,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,90.37,E,-0.1338,1.4405,-8.6864,loss_of_function,-3.45286952375318,0.5470487103513196,,,0.4798,ambiguous,-0.006147356,neutral,-0.10733057,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742W,NP_000240:p.Gln742Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.24632,0.06565,0.2625658143242215,Neutral,Neutral,False,0.082,0.03768,,,0.02776,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.2196,1.4405,-21.9742,loss_of_function,-3.32960574673912,0.56226574317935,,,0.9406,pathogenic,0.307358061,stabilizing,-0.391507604,neutral,https://doi.org/10.1101/2022.10.22.513328 +Q742Y,NP_000240:p.Gln742Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29573,0.7415,0.6469615543615472,Neutral,Neutral,False,0.082,0.0196,,,0.02825,,,Uncertain,Neutral,Uncertain,40.8,,False,40.8,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,90.37,E,-0.2225,1.4405,-21.9742,loss_of_function,-3.32960574673912,0.56226574317935,,,0.8951,pathogenic,0.549264136,stabilizing,-0.082817518,neutral,https://doi.org/10.1101/2022.10.22.513328 +L743A,NP_000240:p.Leu743Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.74643,2.22517,1.9314365753994245,Uncertain,Neutral,False,0.107,1.38562,,,0.87309,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.178,1.7285,-6.091,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9048,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743C,NP_000240:p.Leu743Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78895,2.01497,2.216647151809957,Uncertain,Uncertain,False,0.107,1.2872,,,0.80905,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.2483,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9386,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743D,NP_000240:p.Leu743Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.03255,2.79014,2.301382413212488,Uncertain,Uncertain,False,0.107,2.36938,,,0.74059,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.3806,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9989,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743E,NP_000240:p.Leu743Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39866,1.88027,1.7301428076358345,Neutral,Neutral,False,0.107,2.37068,,,0.91584,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.3486,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9908,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743F,NP_000240:p.Leu743Phe,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.29471,2.20102,0.9635638631010474,Uncertain,Neutral,False,0.107,1.7028,,,-0.0501,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,UP,-,neutral,neutral,655144,Uncertain significance,2,89.48,E,-0.1925,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.8267,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743G,NP_000240:p.Leu743Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.73397,3.83469,3.1014502961827666,Uncertain,Uncertain,False,0.107,2.2836,,,0.98413,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.3339,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9905,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743H,NP_000240:p.Leu743His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.0716,2.42415,1.5272185389247823,Uncertain,Uncertain,False,0.107,1.15692,,,0.36751,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1494331,Uncertain significance,1,89.48,E,-0.3014,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9866,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743I,NP_000240:p.Leu743Ile,"hg38,3:g.37050609C>A",,,0.361,"COSMIC,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.64892,0.42381,0.5876147646587665,Neutral,Neutral,False,0.107,0.29244,,,0.21459,,,Uncertain,Neutral,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.48,E,-0.0294,1.7285,-1.6207,loss_of_function,-0.313861087453958,0.934562346390405,,,0.0957,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743K,NP_000240:p.Leu743Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70186,1.60306,1.7381450549929256,Neutral,Neutral,False,0.107,1.22476,,,0.94694,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.48,E,-0.3476,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.987,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743M,NP_000240:p.Leu743Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.16871,1.06327,0.8569845628287392,Neutral,Neutral,False,0.107,-0.11278,,,0.37378,,,Uncertain,Neutral,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,89.48,E,-0.1565,1.7285,-21.9637,loss_of_function,-2.41689312493339,0.6749410015968429,,,0.3687,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743N,NP_000240:p.Leu743Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14317,2.37313,1.904236151027076,Uncertain,Uncertain,False,0.107,1.71318,,,0.76387,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.3269,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743P,NP_000240:p.Leu743Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.99493,5.06905,5.0826120730814015,Uncertain,Uncertain,False,0.107,1.87682,,,0.78546,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1788027,Uncertain significance,1,89.48,E,-0.3425,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9883,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743Q,NP_000240:p.Leu743Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.41283,1.33367,1.5610507090784156,Neutral,Neutral,False,0.107,1.74848,,,0.88232,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.2798,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9787,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743R,NP_000240:p.Leu743Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01041,1.75408,1.338370158581629,Neutral,Neutral,False,0.107,1.72124,,,0.66433,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,UP,-,neutral,neutral,219801,Uncertain significance,2,89.48,E,-0.2714,1.7285,-8.6758,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9767,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743S,NP_000240:p.Leu743Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.47686,2.6398,2.432846276072884,Uncertain,Uncertain,False,0.107,2.06344,,,0.96257,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.2894,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9842,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743T,NP_000240:p.Leu743Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23565,1.51599,1.9520042694604256,Uncertain,Uncertain,False,0.107,1.21918,,,0.67176,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.1893,1.7285,-7.6759,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9043,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743V,NP_000240:p.Leu743Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.2281,0.43707,0.8821382971420505,Neutral,Neutral,False,0.107,0.21452,,,0.30261,,,Uncertain,Neutral,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,89.48,E,-0.066,1.7285,-1.6873,loss_of_function,-0.370852614998872,0.9275266870379285,,,0.1215,benign,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743W,NP_000240:p.Leu743Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.09653,2.10782,0.7412336506822239,Uncertain,Neutral,False,0.107,2.38732,,,-0.16777,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.48,E,-0.2917,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.963,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L743Y,NP_000240:p.Leu743Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4754,2.01361,1.2765009716808489,Uncertain,Neutral,False,0.107,3.01926,,,0.31267,,,Uncertain,Uncertain,Uncertain,40.3,,False,40.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,89.48,E,-0.2846,1.7285,-21.9637,loss_of_function,-3.80349608088044,0.5037635217952673,,,0.9775,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744C,NP_000240:p.Ala744Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.05442,0.26224,0.5249321444210616,Neutral,Neutral,False,0.079,-0.29896,,,0.22242,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.2971,0.4579,-21.9742,loss_of_function,-2.76271172844142,0.6322493595784009,,,0.8524,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744D,NP_000240:p.Ala744Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.50033,0.65918,0.4090881164968191,Neutral,Neutral,False,0.079,1.61364,,,0.33831,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3788,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9964,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744E,NP_000240:p.Ala744Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.21332,0.33231,0.0692505659892139,Neutral,Neutral,False,0.079,0.32396,,,0.71394,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3645,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9916,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744F,NP_000240:p.Ala744Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.15275,1.3898,-0.4435993908715591,Neutral,Neutral,False,0.079,7.0507,,,-0.88882,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3472,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9688,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744G,NP_000240:p.Ala744Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81643,1.1602,1.0525244200169876,Neutral,Neutral,False,0.079,1.1268,,,0.47713,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1788118,Uncertain significance,1,86.27,E,-0.2177,0.4579,-7.6864,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.7737,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744H,NP_000240:p.Ala744His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1385,0.05408,-0.2415039711836419,Neutral,Neutral,False,0.079,7.8589,,,0.69011,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3513,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9926,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744I,NP_000240:p.Ala744Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.14069,0.10952,-0.5504017902617214,Neutral,Neutral,False,0.079,-0.41066,,,-0.00206,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3367,0.4579,-21.9742,loss_of_function,-3.67722534922408,0.5193517660903864,,,0.9509,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744K,NP_000240:p.Ala744Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.81746,0.04626,-0.0567408673271091,Neutral,Neutral,False,0.079,0.40726,,,1.09767,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3691,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744L,NP_000240:p.Ala744Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.01318,-0.31565,-0.7977801316741651,Neutral,Neutral,False,0.079,-0.8774,,,-0.99738,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3415,0.4579,-21.9742,loss_of_function,-3.67722534922408,0.5193517660903864,,,0.8139,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744M,NP_000240:p.Ala744Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.07546,0.19864,-0.3431575201177117,Neutral,Neutral,False,0.079,-1.55912,,,-0.94188,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3002,0.4579,-21.9742,loss_of_function,-3.67722534922408,0.5193517660903864,,,0.9094,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744N,NP_000240:p.Ala744Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.35895,0.09558,0.1264123392424465,Neutral,Neutral,False,0.079,0.85122,,,0.30429,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3492,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9893,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744P,NP_000240:p.Ala744Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.37436,3.22653,4.741072180063916,Destabilizing,Destabilizing,False,0.079,0.70626,,,0.28316,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,1788107,Uncertain significance,1,86.27,E,-0.4186,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9955,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744Q,NP_000240:p.Ala744Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40994,0.09524,0.0874782276458152,Neutral,Neutral,False,0.079,0.0541,,,0.4912,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3467,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9758,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744R,NP_000240:p.Ala744Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.77621,0.01361,-0.4425179592004946,Neutral,Neutral,False,0.079,0.38182,,,1.56888,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3798,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9798,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744S,NP_000240:p.Ala744Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.05978,0.34966,0.4011885122562036,Neutral,Neutral,False,0.079,0.33192,,,0.3059,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.27,E,-0.2618,0.4579,-21.9742,loss_of_function,-2.36101062105022,0.6818397509026161,,,0.58,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744T,NP_000240:p.Ala744Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79954,0.55306,0.07649521554141,Neutral,Neutral,False,0.079,0.86602,,,-0.16399,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.1766,0.4579,-4.1015,loss_of_function,-1.32897886444505,0.8092450722407686,,,0.4842,ambiguous,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744V,NP_000240:p.Ala744Val,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07987,0.12789,-0.4264546554210696,Neutral,Neutral,False,0.079,-0.14626,,,-0.62277,,,Uncertain,Neutral,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,934519,Uncertain significance,2,86.27,E,-0.1851,0.4579,-6.3646,loss_of_function,-2.47537073002711,0.6677218845295941,,,0.7732,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744W,NP_000240:p.Ala744Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43275,-1.88776,-0.8752454419792127,Neutral,Neutral,False,0.079,8.98786,,,-0.88755,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3581,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +A744Y,NP_000240:p.Ala744Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.93003,-1.43878,-0.3453908396546851,Neutral,Neutral,False,0.079,7.61474,,,0.4582,,,Uncertain,Uncertain,Uncertain,38.9,,False,38.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.27,E,-0.3664,0.4579,-21.9742,loss_of_function,-4.34316700224335,0.43714062311696333,,,0.9896,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +N745A,NP_000240:p.Asn745Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.0987,0.69422,1.035975534306612,Uncertain,Uncertain,False,0.042,-0.04162,,,0.0665,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.73,E,-0.1098,1.5742,-7.6864,loss_of_function,-1.77140110904267,0.7546276170322936,,,0.4063,ambiguous,-0.000952469,neutral,-0.051022468,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745C,NP_000240:p.Asn745Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.47591,0.80646,1.2564446490804777,Neutral,Neutral,False,0.042,-0.01876,,,0.1037,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.73,E,-0.1465,1.5742,-5.1015,loss_of_function,-1.61479303446959,0.7739610357351893,,,0.2694,benign,-0.015218621,neutral,-0.081187962,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745D,NP_000240:p.Asn745Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.98651,0.85442,0.6273369289388558,Neutral,Neutral,False,0.042,0.0241,,,0.20581,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,-,uncertain,neutral,1172336,Uncertain significance,2,86.73,E,-0.0906,1.5742,-3.2942,loss_of_function,-0.453539120966043,0.9173189576772256,,,0.1756,benign,0.006092467,neutral,0.093612837,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745E,NP_000240:p.Asn745Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31341,1.40918,0.8387030268746439,Neutral,Neutral,False,0.042,-0.01792,,,-0.08279,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.1452,1.5742,-8.6864,loss_of_function,-2.29842267407835,0.6895662936614132,,,0.7259,pathogenic,-0.017407697,neutral,0.037791879,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745F,NP_000240:p.Asn745Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.82471,0.4449,0.2233634416301266,Neutral,Neutral,False,0.042,0.10168,,,0.05315,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.2398,1.5742,-21.9742,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.8512,pathogenic,0.098006593,neutral,-0.483208536,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745G,NP_000240:p.Asn745Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.18858,2.58741,1.9629779247599053,Uncertain,Uncertain,False,0.042,-0.0292,,,0.09682,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.73,E,-0.2135,1.5742,-21.9742,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.5195,ambiguous,0.024687395,neutral,-0.164662653,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745H,NP_000240:p.Asn745His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.57857,-0.26122,0.287405977070112,Neutral,Neutral,False,0.042,0.03992,,,0.01032,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,1788149,Uncertain significance,1,86.73,E,-0.1877,1.5742,-21.9742,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.1654,benign,0.041492039,neutral,-0.028430544,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745I,NP_000240:p.Asn745Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34066,0.48435,0.4606873749120621,Neutral,Neutral,False,0.042,0.10104,,,0.00906,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.233,1.5742,-21.9742,loss_of_function,-3.45042732005463,0.5473502027666408,,,0.5779,pathogenic,-0.102546653,destabilizing,-0.307929857,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745K,NP_000240:p.Asn745Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.20801,0.98503,0.9301696181472168,Neutral,Neutral,False,0.042,0.0505,,,0.01173,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.11,1.5742,-7.1015,loss_of_function,-1.28216328295105,0.8150245011834357,,,0.6946,pathogenic,-0.590749033,destabilizing,-0.458631765,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745L,NP_000240:p.Asn745Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.78234,0.13367,0.2580511738211594,Neutral,Neutral,False,0.042,-0.00088,,,0.1516,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.2394,1.5742,-21.9742,loss_of_function,-3.45042732005463,0.5473502027666408,,,0.5889,pathogenic,-0.060204067,neutral,-0.070551075,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745M,NP_000240:p.Asn745Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.54507,0.93129,0.7290864846935871,Neutral,Neutral,False,0.042,0.11618,,,0.03566,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.1936,1.5742,-21.9742,loss_of_function,-3.45042732005463,0.5473502027666408,,,0.6581,pathogenic,-0.024421345,neutral,-0.26511923,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745P,NP_000240:p.Asn745Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.6037,2.83537,2.320660321671766,Uncertain,Uncertain,False,0.042,-0.12984,,,0.08199,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.73,E,-0.3483,1.5742,-21.9742,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.9718,pathogenic,-0.072459403,neutral,-0.279147966,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745Q,NP_000240:p.Asn745Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.56976,0.41599,0.9936392467148092,Neutral,Neutral,False,0.042,-0.00354,,,0.11619,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.1038,1.5742,-7.6864,loss_of_function,-1.10882860123959,0.8364228357609864,,,0.612,pathogenic,-0.035029595,neutral,0.021771113,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745R,NP_000240:p.Asn745Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43618,1.06361,0.7095613665532285,Neutral,Neutral,False,0.042,0.02138,,,0.05428,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.1503,1.5742,-8.6864,loss_of_function,-2.35908524480136,0.6820774404679931,,,0.6539,pathogenic,0.060027641,neutral,0.02897886,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745S,NP_000240:p.Asn745Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06641,1.15374,0.9386948173270668,Neutral,Neutral,False,0.042,-0.0473,,,0.14268,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,86.73,E,-0.0533,1.5742,-2.5166,loss_of_function,-0.801461917474757,0.8743675509919564,,,0.0662,benign,0.004006866,neutral,-0.111556416,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745T,NP_000240:p.Asn745Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42644,0.75884,0.976615582541326,Neutral,Neutral,False,0.042,-0.00444,,,0.08717,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,86.73,E,-0.1242,1.5742,-6.6865,loss_of_function,-1.63937711256761,0.7709261074494711,,,0.2543,benign,0.002090232,neutral,-0.053222513,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745V,NP_000240:p.Asn745Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.00414,-0.02449,0.4831493146826682,Neutral,Neutral,False,0.042,0.00276,,,0.2343,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.2263,1.5742,-21.9742,loss_of_function,-2.81584088741233,0.6256905133725625,,,0.4426,ambiguous,-0.076794135,neutral,-0.22360068,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745W,NP_000240:p.Asn745Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36295,0.76837,0.0925909700738392,Neutral,Neutral,False,0.042,0.10238,,,0.15386,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.245,1.5742,-21.9742,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.9464,pathogenic,0.035570982,neutral,-0.474937698,neutral,https://doi.org/10.1101/2022.10.22.513328 +N745Y,NP_000240:p.Asn745Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.08927,0.56905,0.3831295100029913,Neutral,Neutral,False,0.042,0.09822,,,-0.00669,,,Uncertain,Neutral,Uncertain,22.1,,False,22.1,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,86.73,E,-0.1556,1.5742,-8.6864,loss_of_function,-3.58328977162436,0.5309482042547944,,,0.4085,ambiguous,0.020506376,neutral,-0.249390908,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746A,NP_000240:p.Leu746Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78871,0.5585,0.9205382444273758,Neutral,Neutral,False,0.028,1.34502,,3e-05,0.54811,,0.13111,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.3999,0.1983,-21.9707,loss_of_function,-3.73392250071969,0.5123524477467168,,,0.9838,pathogenic,-0.115795397,destabilizing,0.010449174,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746C,NP_000240:p.Leu746Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.34594,3.98537,1.8607175913207723,Uncertain,Neutral,False,0.028,0.86832,,2e-05,0.15009,,0.01982,Neutral,Neutral,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.3891,0.1983,-21.9707,loss_of_function,-3.1108251551375,0.5892744194116061,,,0.9951,pathogenic,0.043850078,neutral,-0.132536464,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746D,NP_000240:p.Leu746Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14008,3.89898,1.1994557240127548,Uncertain,Neutral,False,0.028,2.10102,,-0.06501,0.26152,,-0.0,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.5214,0.1983,-21.9707,loss_of_function,-4.1999292713107,0.45482345992932294,,,0.9995,pathogenic,0.00572373,neutral,0.025036763,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746E,NP_000240:p.Leu746Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59849,2.95306,0.894174636291406,Uncertain,Neutral,False,0.028,2.09538,,-0.0801,0.90529,,-0.00455,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.4895,0.1983,-21.9707,loss_of_function,-4.1999292713107,0.45482345992932294,,,0.996,pathogenic,-0.059078955,neutral,-0.091748658,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746F,NP_000240:p.Leu746Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59562,2.9432,0.5501521479235316,Uncertain,Neutral,False,0.028,4.75032,,3e-05,1.01915,,0.03266,Neutral,Destabilizing,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.35,H,-0.2655,0.1983,-8.6829,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9551,pathogenic,-0.021354932,neutral,-0.036347275,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746G,NP_000240:p.Leu746Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97437,3.45884,1.9424249212286784,Uncertain,Neutral,False,0.028,1.66704,,3e-05,0.42021,,-0.35478,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.4747,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9955,pathogenic,0.038032142,neutral,-0.069145468,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746H,NP_000240:p.Leu746His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31023,4.00306,0.6802575991088472,Uncertain,Neutral,False,0.028,4.9569,,3e-05,0.85127,,0.00269,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.4423,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9906,pathogenic,-0.093062655,destabilizing,-0.03881756,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746I,NP_000240:p.Leu746Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.07138,2.91871,0.4076408620370997,Uncertain,Neutral,False,0.028,0.54732,,2e-05,0.16615,,0.13511,Neutral,Neutral,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.35,H,-0.274,0.1983,-21.9707,loss_of_function,-2.41948513573052,0.6746210153499016,,,0.5954,pathogenic,-0.10535195,destabilizing,0.1728852,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746K,NP_000240:p.Leu746Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48767,3.92075,0.8191462729764878,Uncertain,Neutral,False,0.028,0.77694,,0.12552,0.65063,,0.0,Neutral,Neutral,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.35,H,-0.4885,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.991,pathogenic,-0.002497205,neutral,-0.001469239,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746M,NP_000240:p.Leu746Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.41279,3.30646,0.5455205112578678,Uncertain,Neutral,False,0.028,1.04168,,-0.02994,0.66831,,0.25861,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,80.35,H,-0.2214,0.1983,-7.098,loss_of_function,-1.98373843816869,0.7284143678020809,,,0.7144,pathogenic,0.165599887,stabilizing,-0.008564716,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746N,NP_000240:p.Leu746Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17322,3.51735,1.0818775513380798,Uncertain,Neutral,False,0.028,1.94738,,1e-05,0.49128,,0.0309,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.4677,0.1983,-21.9707,loss_of_function,-4.1999292713107,0.45482345992932294,,,0.9944,pathogenic,0.016193028,neutral,-0.081448284,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746P,NP_000240:p.Leu746Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.60274,7.74728,7.240043280636051,Uncertain,Uncertain,False,0.028,2.00042,,0.0,0.82293,,0.0,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,918533,Uncertain significance,2,80.35,H,-0.4833,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9964,pathogenic,-0.116619656,destabilizing,-0.05891005,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746Q,NP_000240:p.Leu746Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31909,3.42211,0.9666989367028902,Uncertain,Neutral,False,0.028,2.25964,,2e-05,0.88929,,-0.00348,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.4207,0.1983,-21.9707,loss_of_function,-4.1999292713107,0.45482345992932294,,,0.9868,pathogenic,-0.059751678,neutral,-0.081191874,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746R,NP_000240:p.Leu746Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85803,3.11837,0.5578126508016381,Uncertain,Neutral,False,0.028,2.3912,,0.22463,0.69359,,-0.00295,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.35,H,-0.4801,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9844,pathogenic,-0.019528531,neutral,-0.050286338,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746S,NP_000240:p.Leu746Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.75375,4.22041,1.41314698160959,Uncertain,Neutral,False,0.028,1.8431,,3e-05,0.58921,,0.14,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.3625,0.1983,-8.6829,loss_of_function,-3.04904327254363,0.5969014527411234,,,0.9921,pathogenic,-0.0576972,neutral,0.010431037,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746T,NP_000240:p.Leu746Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37147,3.79048,1.0941906177836265,Uncertain,Neutral,False,0.028,0.91318,,2e-05,0.69557,,0.0,Neutral,Neutral,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.3352,0.1983,-8.6829,loss_of_function,-2.95487037573336,0.6085271881922537,,,0.9623,pathogenic,-0.001719849,neutral,0.129266556,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746V,NP_000240:p.Leu746Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80274,3.07211,0.6691361347946941,Uncertain,Neutral,False,0.028,0.732,,2e-05,0.24691,,0.10831,Neutral,Neutral,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,80.35,H,-0.2344,0.1983,-7.098,loss_of_function,-0.0874717918547733,0.9625103245109725,,,0.7218,pathogenic,-0.093782505,destabilizing,0.052212333,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746W,NP_000240:p.Leu746Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.30692,2.3068,0.0060658387123607,Uncertain,Neutral,False,0.028,1.80726,,3e-05,0.67035,,-0.06416,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.35,H,-0.4325,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9924,pathogenic,0.013601917,neutral,-0.243280949,neutral,https://doi.org/10.1101/2022.10.22.513328 +L746Y,NP_000240:p.Leu746Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.60619,2.8017,0.5892379855677823,Uncertain,Neutral,False,0.028,2.91642,,3e-05,0.93058,,0.0067,Neutral,Uncertain,Uncertain,64.4,,False,64.4,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,80.35,H,-0.4254,0.1983,-21.9707,loss_of_function,-4.36024035123061,0.43503290162475294,,,0.9926,pathogenic,-0.014051166,neutral,-0.127054682,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747A,NP_000240:p.Pro747Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.32691,-0.14626,-0.6265456534530706,Uncertain,Uncertain,False,0.02,0.04162,,1e-05,0.17098,,-0.0,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,78.28,H,-0.1634,1.7704,-21.9707,loss_of_function,-2.31562281504398,0.6874429195764954,,,0.2308,benign,-0.053046415,neutral,0.010636229,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747C,NP_000240:p.Pro747Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.09605,0.8085,0.1533987941635722,Uncertain,Uncertain,False,0.02,0.01542,,2e-05,-0.03282,,0.0189,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.28,H,-0.1283,1.7704,-8.6829,loss_of_function,-2.84561668583829,0.6220146621768218,,,0.7948,pathogenic,0.066543709,neutral,-0.130114735,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747D,NP_000240:p.Pro747Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.15918,-0.00306,-0.8086313576151188,Uncertain,Uncertain,False,0.02,-0.00286,,0.005,-0.00219,,0.0,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.28,H,-0.1491,1.7704,-7.6829,loss_of_function,-1.85468913511662,0.7443456294309843,,,0.8708,pathogenic,-0.027075032,neutral,0.037623183,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747E,NP_000240:p.Pro747Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.09315,-0.21224,-1.035033782421061,Neutral,Neutral,False,0.02,0.05444,,0.04873,-0.02399,,0.06075,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.1167,1.7704,-4.5131,loss_of_function,-1.84994698900375,0.7449310519681066,,,0.6447,pathogenic,0.016935821,neutral,0.036041346,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747F,NP_000240:p.Pro747Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.38731,0.12959,-0.96302276168427,Uncertain,Uncertain,False,0.02,0.07312,,-0.09411,-0.04281,,-0.50216,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.1567,1.7704,-8.6829,loss_of_function,-1.20154524435995,0.8249768762403208,,,0.8661,pathogenic,0.237306904,stabilizing,-0.33607181,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747G,NP_000240:p.Pro747Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.91082,0.8619,0.0862905786068612,Uncertain,Uncertain,False,0.02,-0.53976,,0.00014,-0.09916,,0.0,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,78.28,H,-0.11,1.7704,-8.6829,loss_of_function,-3.71443769682284,0.5147578656864273,,,0.5963,pathogenic,0.006538058,neutral,0.070045232,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747H,NP_000240:p.Pro747His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.92522,0.16497,-1.0358778595671063,Uncertain,Uncertain,False,0.02,0.02592,,0.07645,-0.03629,,0.26425,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.1241,1.7704,-6.683,loss_of_function,-2.25793666190844,0.6945643311318639,,,0.4254,ambiguous,0.116477189,stabilizing,-0.177051692,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747I,NP_000240:p.Pro747Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.14155,0.11088,-0.9477134949580446,Uncertain,Uncertain,False,0.02,-0.21224,,0.01751,-0.06746,,-0.04454,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.2076,1.7704,-21.9707,loss_of_function,-3.5766123114403,0.5317725431910993,,,0.7609,pathogenic,0.152372048,stabilizing,-0.290948839,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747K,NP_000240:p.Pro747Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.23253,-0.10238,-0.7941045847397477,Uncertain,Uncertain,False,0.02,0.08216,,-0.01313,-0.01286,,0.16894,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.0993,1.7704,-2.7288,loss_of_function,-1.94078424799617,0.7337171042408819,,,0.6838,pathogenic,0.108683351,neutral,-0.017327142,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747L,NP_000240:p.Pro747Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.29776,-0.27687,-1.141965368018392,Uncertain,Uncertain,False,0.02,0.02558,,0.01251,0.01812,,-0.05906,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.1443,1.7704,-8.6829,loss_of_function,-3.5766123114403,0.5317725431910993,,,0.3703,ambiguous,0.153219275,stabilizing,-0.281791379,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747M,NP_000240:p.Pro747Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83325,-0.35068,-0.7771552949712673,Neutral,Neutral,False,0.02,0.0229,,-0.31242,-0.12139,,-0.00085,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.1631,1.7704,-21.9707,loss_of_function,-3.5766123114403,0.5317725431910993,,,0.6915,pathogenic,0.073853698,neutral,-0.252537874,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747N,NP_000240:p.Pro747Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.34198,-0.02211,-0.6550433199497957,Uncertain,Uncertain,False,0.02,-0.05472,,0.04767,-0.00454,,0.01041,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.28,H,-0.1035,1.7704,-4.9826,loss_of_function,-1.64397236430182,0.7703588191658696,,,0.6672,pathogenic,0.006925203,neutral,0.074686329,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747Q,NP_000240:p.Pro747Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.11284,0.04014,-0.6361209980332361,Uncertain,Uncertain,False,0.02,0.0621,,0.05041,-0.01216,,-0.08747,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.124,1.7704,-8.6829,loss_of_function,-2.00189498290744,0.7261729247437391,,,0.3975,ambiguous,0.002974012,neutral,0.103760334,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747R,NP_000240:p.Pro747Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.31672,0.33741,-0.9187628520062624,Uncertain,Uncertain,False,0.02,0.01218,,0.1577,0.07215,,0.1303,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,525769,Uncertain significance,2,78.28,H,-0.1552,1.7704,-6.683,loss_of_function,-3.39441706231444,0.5542647234099737,,,0.4799,ambiguous,0.183093812,stabilizing,0.039500259,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747S,NP_000240:p.Pro747Ser,"hg19,3:g.37092112C>T, hg38,3:g.37050621C>T",,3.9794342836e-06,0.848,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.82635,0.41599,-0.5994074701744606,Uncertain,Uncertain,False,0.02,0.02786,,2e-05,-0.00016,,0.0417,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,127622,Uncertain significance,2,78.28,H,-0.0754,1.7704,-4.7761,loss_of_function,-1.38891467479784,0.8018459383199494,,,0.3198,benign,0.15973245,stabilizing,-0.06848142,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747T,NP_000240:p.Pro747Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.74543,0.38095,-0.6486340898985088,Uncertain,Uncertain,False,0.02,0.01998,,4e-05,0.03707,,-0.00477,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.28,H,-0.088,1.7704,-4.8756,loss_of_function,-0.918007988574573,0.8599798254746573,,,0.1812,benign,-0.091162206,destabilizing,-0.084512133,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747V,NP_000240:p.Pro747Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.58285,0.26871,-0.7227584777399687,Uncertain,Uncertain,False,0.02,0.00972,,0.00264,-0.07395,,-0.0,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.163,1.7704,-21.9707,loss_of_function,-3.5766123114403,0.5317725431910993,,,0.5487,ambiguous,0.135428303,stabilizing,-0.140464757,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747W,NP_000240:p.Pro747Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.95715,-0.02619,-1.5172491034546798,Neutral,Neutral,False,0.02,0.0367,,-0.51476,-0.01516,,-0.00173,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.237,1.7704,-21.9707,loss_of_function,-3.16313615529268,0.5828165757051157,,,0.9062,pathogenic,0.429747102,stabilizing,-0.436301995,neutral,https://doi.org/10.1101/2022.10.22.513328 +P747Y,NP_000240:p.Pro747Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.18282,-0.04422,-0.9961337555885952,Uncertain,Uncertain,False,0.02,0.06238,,-0.17109,-0.0311,,-0.0,Neutral,Neutral,Uncertain,49.9,,False,49.9,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.28,H,-0.2255,1.7704,-21.9707,loss_of_function,-3.16313615529268,0.5828165757051157,,,0.8247,pathogenic,0.227329986,stabilizing,-0.362782888,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748A,NP_000240:p.Asp748Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69172,1.15612,0.3691923294855354,Neutral,Neutral,False,0.022,0.00172,,,0.13765,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,78.58,H,-0.1066,1.7038,-5.5131,loss_of_function,-2.95295848337322,0.6087632131584902,,,0.4641,ambiguous,0.019620188,neutral,-0.214565088,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748C,NP_000240:p.Asp748Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.00242,2.1017,1.1462345383719532,Uncertain,Neutral,False,0.022,-0.07984,,,0.09099,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.58,H,-0.232,1.7038,-21.9707,loss_of_function,-3.28442212190685,0.5678437054892639,,,0.9073,pathogenic,-0.005137152,neutral,-0.128001693,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748E,NP_000240:p.Asp748Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.48645,0.97313,-0.1350934807758902,Neutral,Neutral,False,0.022,0.05386,,,-0.02252,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.0464,1.7038,-4.5131,loss_of_function,-0.484116405942899,0.9135441621894013,,,0.4227,ambiguous,0.038907951,neutral,-0.040509637,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748F,NP_000240:p.Asp748Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2022,0.60068,-0.1223166256622743,Neutral,Neutral,False,0.022,-0.5556,,,0.09721,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2907,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.9065,pathogenic,0.189390001,stabilizing,-0.017099854,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748G,NP_000240:p.Asp748Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.32532,2.09286,1.1392559137040057,Uncertain,Neutral,False,0.022,0.49658,,,0.16476,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,78.58,H,-0.1019,1.7038,-2.4162,loss_of_function,-2.12779142158447,0.7106308872799515,,,0.5047,ambiguous,0.070487861,neutral,-0.062855456,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748H,NP_000240:p.Asp748His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14876,0.93537,-0.1752252663208897,Neutral,Neutral,False,0.022,-0.0849,,,-0.10852,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,405434,Uncertain significance,2,78.58,H,-0.1321,1.7038,-8.6829,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.687,pathogenic,0.164429783,stabilizing,0.161003732,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748I,NP_000240:p.Asp748Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.31608,0.84932,-0.0759412006876419,Neutral,Neutral,False,0.022,-0.20018,,,0.06832,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2829,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.8468,pathogenic,0.155509091,stabilizing,-0.379718527,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748K,NP_000240:p.Asp748Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.11831,1.06803,0.2804119627748841,Neutral,Neutral,False,0.022,-0.01398,,,-0.07428,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.1791,1.7038,-5.8756,loss_of_function,-1.93973191066914,0.7338470163045837,,,0.8563,pathogenic,0.118134623,stabilizing,-0.146919896,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748L,NP_000240:p.Asp748Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.94221,0.86054,-0.4035308004009924,Neutral,Neutral,False,0.022,-0.41472,,,0.16704,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2766,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.7495,pathogenic,0.191358038,stabilizing,-0.393142622,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748M,NP_000240:p.Asp748Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.14583,1.49048,0.012750107544881,Neutral,Neutral,False,0.022,-0.61208,,,0.07685,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.1475,1.7038,-8.6829,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.9146,pathogenic,0.045962234,neutral,-0.250531228,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748N,NP_000240:p.Asp748Asn,"hg19,3:g.37092115G>A, hg38,3:g.37050624G>A",,,0.489,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56942,1.08163,0.1566011300823444,Neutral,Neutral,False,0.022,-0.199,,,0.11822,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,-,-,uncertain,neutral,187193,Uncertain significance,2,78.58,H,-0.067,1.7038,-4.2907,loss_of_function,-1.11628525183176,0.8355023050130502,,,0.2414,benign,0.079843196,neutral,-0.121176946,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748P,NP_000240:p.Asp748Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70413,6.07279,5.080085205342653,Uncertain,Uncertain,False,0.022,-0.0348,,,0.12751,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.58,H,-0.3275,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.9847,pathogenic,-0.032685336,neutral,-0.084501668,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748Q,NP_000240:p.Asp748Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25093,1.10476,0.3054309099048546,Neutral,Neutral,False,0.022,0.00038,,,-0.33777,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.1446,1.7038,-7.6829,loss_of_function,-1.47501755785173,0.7912164538942884,,,0.7303,pathogenic,0.147169805,stabilizing,-0.116289779,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748R,NP_000240:p.Asp748Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.62733,1.62381,0.1785835287145043,Neutral,Neutral,False,0.022,0.07292,,,0.08136,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2245,1.7038,-8.6829,loss_of_function,-2.12983191741239,0.710378986090883,,,0.8513,pathogenic,0.139060278,stabilizing,0.003384327,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748S,NP_000240:p.Asp748Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91127,1.51701,0.5569843019091671,Neutral,Neutral,False,0.022,0.01754,,,0.05123,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,78.58,H,-0.1241,1.7038,-7.6829,loss_of_function,-2.47324002020969,0.6679849227231666,,,0.3004,benign,0.026321766,neutral,-0.167605732,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748T,NP_000240:p.Asp748Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.3519,1.46701,0.2742630595613721,Neutral,Neutral,False,0.022,-0.05748,,,-0.05005,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,78.58,H,-0.1511,1.7038,-7.098,loss_of_function,-3.28442212190685,0.5678437054892639,,,0.6812,pathogenic,0.056716258,neutral,-0.118409348,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748V,NP_000240:p.Asp748Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.14509,0.70612,0.0646092182865754,Neutral,Neutral,False,0.022,-0.21584,,,-0.14202,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2376,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.618,pathogenic,0.068187648,neutral,-0.243283394,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748W,NP_000240:p.Asp748Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.34806,0.31259,-0.660315913063218,Neutral,Neutral,False,0.022,-0.59618,,,0.14249,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.2711,1.7038,-21.9707,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.9889,pathogenic,0.385767671,stabilizing,0.042609475,neutral,https://doi.org/10.1101/2022.10.22.513328 +D748Y,NP_000240:p.Asp748Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2622,0.45612,-0.0585826486241053,Neutral,Neutral,False,0.022,-0.09928,,,0.19371,,,Uncertain,Neutral,Uncertain,58.7,,False,58.7,,neutral,neutral,neutral,UP,-,mixed_effects,neutral,,,,78.58,H,-0.1677,1.7038,-8.6829,loss_of_function,-3.69332350666278,0.5173644329407006,,,0.6231,pathogenic,0.213534431,stabilizing,0.013655798,neutral,https://doi.org/10.1101/2022.10.22.513328 +L749A,NP_000240:p.Leu749Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.10699,0.91259,1.2435633218759736,Neutral,Neutral,False,0.061,2.79698,,,1.13635,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4118,0.0691,-21.9707,loss_of_function,-4.11363834323059,0.46547615869585895,,,0.9816,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749C,NP_000240:p.Leu749Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.70001,1.37313,1.9696939784691747,Neutral,Neutral,False,0.061,2.28388,,,1.38218,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.401,0.0691,-21.9707,loss_of_function,-4.56848941896318,0.4093243522288362,,,0.9906,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749D,NP_000240:p.Leu749Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57659,1.38333,1.4726534464020906,Neutral,Neutral,False,0.061,3.08756,,,1.10492,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.5333,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9995,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749E,NP_000240:p.Leu749Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.81308,0.80884,1.0702226623117752,Neutral,Neutral,False,0.061,2.6785,,,1.50677,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.5014,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9975,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749F,NP_000240:p.Leu749Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.65495,1.02109,0.7306675433482107,Neutral,Neutral,False,0.061,0.93146,,,0.23704,,,Uncertain,Neutral,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,75.77,H,-0.2774,0.0691,-8.6829,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9679,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749G,NP_000240:p.Leu749Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.24998,2.4983,2.230599066281264,Uncertain,Uncertain,False,0.061,3.40636,,,1.41323,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4866,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9962,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749H,NP_000240:p.Leu749His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.57247,1.40612,0.8461984995796359,Neutral,Neutral,False,0.061,2.01362,,,1.01965,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4542,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9953,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749I,NP_000240:p.Leu749Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.59371,0.10816,0.4990545789523459,Neutral,Neutral,False,0.061,1.91306,,,0.40237,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,75.77,H,-0.2859,0.0691,-21.9707,loss_of_function,-3.01404175373714,0.6012224241863561,,,0.7805,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749K,NP_000240:p.Leu749Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56589,1.17551,1.0832774567083423,Neutral,Neutral,False,0.061,2.19742,,,0.93094,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,75.77,H,-0.5004,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9943,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749M,NP_000240:p.Leu749Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.15951,0.66803,0.728033058410365,Neutral,Neutral,False,0.061,0.28994,,,0.26522,,,Uncertain,Neutral,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,75.77,H,-0.2363,0.0691,-7.6829,loss_of_function,-1.89843575112596,0.7389450672540404,,,0.7746,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749N,NP_000240:p.Leu749Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.65375,1.13231,1.2324181001015562,Neutral,Neutral,False,0.061,2.9536,,,1.36954,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4796,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9967,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749P,NP_000240:p.Leu749Pro,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.79697,9.04456,7.198761918215921,Uncertain,Uncertain,False,0.061,2.96444,,,1.41776,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,90097,Pathogenic,3,75.77,H,-0.4952,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.999,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749Q,NP_000240:p.Leu749Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.89882,0.72245,1.2113403701102343,Neutral,Neutral,False,0.061,2.31196,,,1.17234,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4325,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9942,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749R,NP_000240:p.Leu749Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.85694,1.1068,0.7255466600189037,Neutral,Neutral,False,0.061,2.22556,,,0.64525,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,UP,-,neutral,neutral,1788353,Uncertain significance,1,75.77,H,-0.492,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.986,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749S,NP_000240:p.Leu749Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.43919,1.67041,1.6233298086355326,Neutral,Neutral,False,0.061,3.08394,,,1.3824,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4422,0.0691,-21.9707,loss_of_function,-4.56848941896318,0.4093243522288362,,,0.9954,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749T,NP_000240:p.Leu749Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.80478,1.1051,1.4136369414149126,Neutral,Neutral,False,0.061,2.37812,,,0.88749,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.4149,0.0691,-21.9707,loss_of_function,-4.56848941896318,0.4093243522288362,,,0.9752,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749V,NP_000240:p.Leu749Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.4129,0.25986,0.7029321168910257,Neutral,Neutral,False,0.061,2.5371,,,0.93439,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,75.77,H,-0.3222,0.0691,-21.9707,loss_of_function,-3.01404175373714,0.6012224241863561,,,0.8459,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749W,NP_000240:p.Leu749Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.61164,0.66293,0.2047384847296263,Neutral,Neutral,False,0.061,3.21716,,,1.22021,,,Uncertain,Destabilizing,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,75.77,H,-0.4444,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9931,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +L749Y,NP_000240:p.Leu749Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.69791,0.86293,0.8901122976601339,Neutral,Neutral,False,0.061,2.23364,,,0.95841,,,Uncertain,Uncertain,Uncertain,54.3,,True,54.3,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,75.77,H,-0.4373,0.0691,-21.9707,loss_of_function,-4.74271889426873,0.38781555451421934,,,0.9948,pathogenic,,,,,https://doi.org/10.1101/2022.10.22.513328 +Y750A,NP_000240:p.Tyr750Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72127,0.76156,1.249515124533254,Neutral,Neutral,False,0.132,0.24158,,,0.33714,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4297,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9962,pathogenic,-0.079514629,neutral,0.192590537,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750C,NP_000240:p.Tyr750Cys,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.06646,1.25442,1.7113936181546756,Neutral,Neutral,False,0.132,0.28898,,,0.5122,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,851963,Uncertain significance,2,72.18,H,-0.3326,0.2276,-8.6793,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9439,pathogenic,-0.020635886,neutral,0.013535005,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750D,NP_000240:p.Tyr750Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01584,1.21361,1.0138253259052366,Neutral,Neutral,False,0.132,0.38442,,,0.55898,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4439,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9955,pathogenic,-0.186263193,destabilizing,0.246668386,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750E,NP_000240:p.Tyr750Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.46435,0.90102,0.8894783937499459,Neutral,Neutral,False,0.132,0.22954,,,0.32255,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4726,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9981,pathogenic,-0.073463943,neutral,0.282100935,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750F,NP_000240:p.Tyr750Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.06821,0.12347,0.1982448334866354,Neutral,Neutral,False,0.132,-0.39426,,,-0.0842,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,-,-,uncertain,neutral,,,,72.18,H,-0.1806,0.2276,-4.979,loss_of_function,-0.617449485110356,0.8970840642441458,,,0.3843,ambiguous,0.00164673,neutral,0.002231031,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750G,NP_000240:p.Tyr750Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.76641,1.80578,1.902765428596647,Neutral,Neutral,False,0.132,0.1888,,,0.22757,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.5003,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9815,pathogenic,-0.160527356,destabilizing,0.175698749,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750H,NP_000240:p.Tyr750His,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.74974,0.77211,0.5162557444911525,Neutral,Neutral,False,0.132,-0.0004,,,0.10959,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,489897,Uncertain significance,2,72.18,H,-0.3374,0.2276,-21.9672,loss_of_function,-3.00348972977434,0.6025250817791521,,,0.9771,pathogenic,-0.070149469,neutral,0.12947669,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750I,NP_000240:p.Tyr750Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07603,-0.14592,0.3430584134542813,Neutral,Neutral,False,0.132,0.1614,,,0.34283,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4418,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9933,pathogenic,0.006796172,neutral,-0.073720622,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750K,NP_000240:p.Tyr750Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01492,0.71633,0.8465471115142736,Neutral,Neutral,False,0.132,0.0297,,,0.27795,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4979,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9975,pathogenic,-0.075024168,neutral,0.264674626,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750L,NP_000240:p.Tyr750Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.37031,-0.17313,0.0920874584351583,Neutral,Neutral,False,0.132,0.07436,,,0.50745,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4189,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9456,pathogenic,-0.001530752,neutral,0.053319788,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750M,NP_000240:p.Tyr750Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.43896,0.61054,0.5244149601771666,Neutral,Neutral,False,0.132,-0.39024,,,0.46432,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.371,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.991,pathogenic,-0.099086726,destabilizing,0.032670179,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750N,NP_000240:p.Tyr750Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.78116,0.78844,0.8061946563971286,Neutral,Neutral,False,0.132,0.19514,,,0.18845,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4229,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9816,pathogenic,-0.130680929,destabilizing,0.178414274,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750P,NP_000240:p.Tyr750Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.94168,7.8017,5.463221491609729,Destabilizing,Destabilizing,False,0.132,0.62234,,,1.04783,,,Uncertain,Uncertain,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.5539,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9968,pathogenic,-0.049718364,neutral,0.264252576,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750Q,NP_000240:p.Tyr750Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.49598,0.38537,1.0632057766935712,Neutral,Neutral,False,0.132,0.1849,,,0.33377,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4474,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9958,pathogenic,-0.116540209,destabilizing,0.283497408,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750R,NP_000240:p.Tyr750Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31143,0.62789,0.5717248953971518,Neutral,Neutral,False,0.132,-0.36978,,,0.40288,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4933,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9873,pathogenic,0.097323446,neutral,0.083397901,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750S,NP_000240:p.Tyr750Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72306,1.0915,1.3752109012169929,Neutral,Neutral,False,0.132,0.25696,,,0.49577,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,2756268,Uncertain significance,1,72.18,H,-0.4344,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9825,pathogenic,-0.135408296,destabilizing,0.218236551,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750T,NP_000240:p.Tyr750Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.37522,0.61054,1.2757652514051363,Neutral,Neutral,False,0.132,0.17758,,,0.35178,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4531,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.997,pathogenic,0.108203746,neutral,0.181882628,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750V,NP_000240:p.Tyr750Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.79599,0.4881,0.5589107995119685,Neutral,Neutral,False,0.132,0.17454,,,0.57443,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,DOWN,-,neutral,neutral,,,,72.18,H,-0.4313,0.2276,-21.9672,loss_of_function,-4.72637294355195,0.3898334779844229,,,0.9822,pathogenic,-0.028759387,neutral,-0.039429465,neutral,https://doi.org/10.1101/2022.10.22.513328 +Y750W,NP_000240:p.Tyr750Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28468,-0.38401,-0.1057136037997308,Neutral,Neutral,False,0.132,-0.00826,,,0.2501,,,Uncertain,Neutral,Uncertain,78.5,,True,78.5,,uncertain,,,UP,-,neutral,neutral,,,,72.18,H,-0.3473,0.2276,-21.9672,loss_of_function,-3.00348972977434,0.6025250817791521,,,0.8868,pathogenic,-0.08847348,destabilizing,-0.067518962,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751A,NP_000240:p.Lys751Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.19715,0.19354,0.2589058431244867,Neutral,Neutral,False,0.106,0.05064,,,-0.00229,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.2368,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.951,pathogenic,-0.081637684,destabilizing,-0.043755869,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751C,NP_000240:p.Lys751Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.92692,1.03503,1.1262884532759356,Neutral,Neutral,False,0.106,0.16858,,,-0.05507,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.307,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9554,pathogenic,0.017587091,neutral,-0.153194703,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751D,NP_000240:p.Lys751Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05052,1.08163,0.5530084460425455,Neutral,Neutral,False,0.106,-0.16858,,,0.09844,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.3458,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9929,pathogenic,0.081390916,neutral,0.220708123,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751E,NP_000240:p.Lys751Glu,"hg19,3:g.37092124A>G",,,0.938,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.70646,0.86939,0.1252251249269748,Neutral,Neutral,False,0.106,-0.35472,,,-0.08073,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.2617,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9357,pathogenic,0.03978574,neutral,0.075713866,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751F,NP_000240:p.Lys751Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.20785,0.67415,-0.0036080325398518,Neutral,Neutral,False,0.106,0.09604,,,0.14639,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,72.16,H,-0.3079,0.9163,-21.9601,loss_of_function,-3.96040142135428,0.4843934053285996,,,0.9934,pathogenic,0.212526384,stabilizing,-0.277398404,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751G,NP_000240:p.Lys751Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.01927,1.36939,1.198658141710674,Neutral,Neutral,False,0.106,0.29112,,,0.12008,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.296,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9626,pathogenic,-0.018510281,neutral,0.138755072,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751H,NP_000240:p.Lys751His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56008,0.88605,0.0489670830641786,Neutral,Neutral,False,0.106,0.11862,,,0.02666,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.1739,0.9163,-7.6724,loss_of_function,-3.44470255165565,0.5480569309780455,,,0.7571,pathogenic,0.023567681,neutral,0.020915342,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751I,NP_000240:p.Lys751Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.91415,0.43027,-0.2105256553555068,Neutral,Neutral,False,0.106,-0.12374,,,0.05319,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,72.16,H,-0.2751,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9671,pathogenic,0.664117401,stabilizing,-0.535826649,damaging,https://doi.org/10.1101/2022.10.22.513328 +K751L,NP_000240:p.Lys751Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24407,0.35952,-0.3678126037945084,Neutral,Neutral,False,0.106,-0.0178,,,-0.06235,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,72.16,H,-0.2738,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9155,pathogenic,0.171095622,stabilizing,-0.349036586,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751M,NP_000240:p.Lys751Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.07091,0.81293,-0.0180467417589486,Neutral,Neutral,False,0.106,-0.19972,,,0.05402,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.2468,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9097,pathogenic,0.121403369,stabilizing,-0.119472398,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751N,NP_000240:p.Lys751Asn,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.5678,0.68265,0.4446975186668495,Neutral,Neutral,False,0.106,0.09542,,,0.06934,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1788468,Uncertain significance,1,72.16,H,-0.255,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9816,pathogenic,0.005193535,neutral,0.202602817,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751P,NP_000240:p.Lys751Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.83913,6.51667,5.789482994639138,Uncertain,Uncertain,False,0.106,0.0451,,,0.39506,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.4111,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.993,pathogenic,0.080872529,neutral,0.062363423,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751Q,NP_000240:p.Lys751Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16747,0.61973,0.3089350782900096,Neutral,Neutral,False,0.106,0.08226,,,0.04473,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.236,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.6228,pathogenic,-0.009907855,neutral,0.091817627,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751R,NP_000240:p.Lys751Arg,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.08888,0.45476,-0.1292316834591755,Neutral,Neutral,False,0.106,0.0876,,,-0.15725,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,-,-,uncertain,neutral,90100,Likely benign,3,72.16,H,-0.0673,0.9163,-1.7655,loss_of_function,-0.0293099603967238,0.9696904590166234,,,0.0726,benign,0.059657193,neutral,0.164702426,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751S,NP_000240:p.Lys751Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.34799,0.68571,0.6886460152465337,Neutral,Neutral,False,0.106,0.15234,,,0.03621,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.2469,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9711,pathogenic,-0.06803088,neutral,-0.045409393,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751T,NP_000240:p.Lys751Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.90722,0.39252,0.3761103176796598,Neutral,Neutral,False,0.106,0.39256,,,0.05793,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.2588,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.8895,pathogenic,0.048380998,neutral,-0.047482098,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751V,NP_000240:p.Lys751Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.36602,0.44388,0.0130520780247822,Neutral,Neutral,False,0.106,0.22266,,,0.07787,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,72.16,H,-0.259,0.9163,-21.9601,loss_of_function,-4.41597790545111,0.4281520464954255,,,0.9275,pathogenic,0.129787144,stabilizing,-0.469017171,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751W,NP_000240:p.Lys751Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77852,0.82619,-0.6057149868652395,Neutral,Neutral,False,0.106,-0.3855,,,0.0892,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,72.16,H,-0.3169,0.9163,-21.9601,loss_of_function,-3.96040142135428,0.4843934053285996,,,0.9765,pathogenic,0.373291027,stabilizing,-0.050662101,neutral,https://doi.org/10.1101/2022.10.22.513328 +K751Y,NP_000240:p.Lys751Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.28867,0.80068,0.0297360062623536,Neutral,Neutral,False,0.106,0.07316,,,0.06884,,,Uncertain,Neutral,Uncertain,67.9,,True,67.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,72.16,H,-0.2927,0.9163,-21.9601,loss_of_function,-3.96040142135428,0.4843934053285996,,,0.9722,pathogenic,0.216784027,stabilizing,-0.262463327,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752A,NP_000240:p.Val752Ala,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.1744,0.10136,0.2723485960804073,Neutral,Neutral,False,0.151,2.30312,,,0.56061,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,2045801,Uncertain significance,1,70.66,H,-0.2984,0.5553,-21.9459,loss_of_function,-3.86772928396362,0.495833870573767,,,0.9832,pathogenic,0.651164741,stabilizing,-0.012355939,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752C,NP_000240:p.Val752Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72631,1.10034,0.978067457817688,Neutral,Neutral,False,0.151,1.82178,,,0.66918,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.2585,0.5553,-8.6581,loss_of_function,-2.87256038000586,0.6186884369986857,,,0.9918,pathogenic,0.171349118,stabilizing,0.211492304,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752D,NP_000240:p.Val752Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.84342,0.11361,0.4867551990005908,Neutral,Neutral,False,0.151,2.16322,,,0.33681,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.465,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9942,pathogenic,1.026707048,stabilizing,0.348927915,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752E,NP_000240:p.Val752Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.01873,0.22551,0.225633643424668,Neutral,Neutral,False,0.151,0.69834,,,0.22462,,,Uncertain,Neutral,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,70.66,H,-0.4223,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.993,pathogenic,0.958007742,stabilizing,0.229360462,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752F,NP_000240:p.Val752Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.65309,-0.47449,-0.0552560642008698,Neutral,Neutral,False,0.151,3.10444,,,-0.52389,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.3755,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9541,pathogenic,1.199777547,stabilizing,-0.092004562,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752G,NP_000240:p.Val752Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72405,1.49762,0.9125567767187776,Neutral,Neutral,False,0.151,3.01508,,,1.58766,,,Uncertain,Destabilizing,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.4242,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9585,pathogenic,0.716706876,stabilizing,0.148710837,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752H,NP_000240:p.Val752His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.31899,0.13027,0.0583365265896967,Neutral,Neutral,False,0.151,8.67096,,,-0.81327,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.468,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9974,pathogenic,0.927043742,stabilizing,0.091907026,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752I,NP_000240:p.Val752Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.81393,-0.20034,-0.3821958211376897,Neutral,Neutral,False,0.151,0.54282,,,0.44937,,,Uncertain,Neutral,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.1386,0.5553,-3.2659,loss_of_function,-1.40144739806431,0.8002987614770013,,,0.2713,benign,0.2704598,stabilizing,0.110495279,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752K,NP_000240:p.Val752Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.64522,0.33299,0.1812756697484896,Neutral,Neutral,False,0.151,4.86172,,,2.3457,,,Uncertain,Destabilizing,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.4612,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.995,pathogenic,1.057519277,stabilizing,0.243904401,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752L,NP_000240:p.Val752Leu,"hg19,3:g.37092127G>C, hg38,3:g.37050636G>C",3.1841049481e-05,,0.881,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.8601,-0.13673,-0.631486613096498,Neutral,Neutral,False,0.151,-0.15202,,,-0.30333,,,Uncertain,Neutral,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,820971,Uncertain significance,2,70.66,H,-0.2312,0.5553,-8.6581,loss_of_function,-2.65383402664347,0.6456904174677023,,,0.9679,pathogenic,1.805521467,stabilizing,0.037278493,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752M,NP_000240:p.Val752Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.81355,-0.2483,-0.1262040847916629,Neutral,Neutral,False,0.151,-0.18394,,,0.09125,,,Uncertain,Neutral,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.3081,0.5553,-21.9459,loss_of_function,-2.65383402664347,0.6456904174677023,,,0.9704,pathogenic,1.474322166,stabilizing,0.086435573,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752N,NP_000240:p.Val752Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.53531,0.43299,0.3339082130158033,Neutral,Neutral,False,0.151,2.99134,,,0.76425,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.4528,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9808,pathogenic,0.65897136,stabilizing,0.356778086,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752P,NP_000240:p.Val752Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.12875,7.60034,4.547415017110939,Uncertain,Uncertain,False,0.151,2.57208,,,1.20215,,,Uncertain,Destabilizing,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.5027,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9945,pathogenic,0.465400422,stabilizing,0.184959877,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752Q,NP_000240:p.Val752Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.46595,0.52483,0.3274306466847215,Neutral,Neutral,False,0.151,2.83516,,,0.68032,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,70.66,H,-0.4329,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9936,pathogenic,1.08086015,stabilizing,0.164745442,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752R,NP_000240:p.Val752Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.40567,0.61497,-0.0348850896083591,Neutral,Neutral,False,0.151,7.61422,,,1.61884,,,Uncertain,Destabilizing,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.4822,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9869,pathogenic,1.031490583,stabilizing,0.290959739,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752S,NP_000240:p.Val752Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.16534,0.97313,0.5658021434747262,Neutral,Neutral,False,0.151,2.9925,,,1.17529,,,Uncertain,Destabilizing,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.402,0.5553,-21.9459,loss_of_function,-3.86772928396362,0.495833870573767,,,0.9749,pathogenic,0.832632712,stabilizing,0.199029061,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752T,NP_000240:p.Val752Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.42286,0.4102,0.4591789432587279,Neutral,Neutral,False,0.151,2.03472,,,0.37626,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,70.66,H,-0.2496,0.5553,-8.6581,loss_of_function,-3.32042145337755,0.5633995531028388,,,0.9599,pathogenic,0.187097485,stabilizing,0.267732479,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752W,NP_000240:p.Val752Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29044,-0.38231,-0.4834687133672349,Neutral,Neutral,False,0.151,17.89948,,,-0.57797,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.4161,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9988,pathogenic,1.342909575,stabilizing,-0.146396475,neutral,https://doi.org/10.1101/2022.10.22.513328 +V752Y,NP_000240:p.Val752Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.57152,-0.60476,0.0249866281444821,Neutral,Neutral,False,0.151,10.05732,,,-0.20894,,,Uncertain,Uncertain,Uncertain,73.0,,True,73.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,70.66,H,-0.419,0.5553,-21.9459,loss_of_function,-4.17454395196668,0.4579573022239975,,,0.9888,pathogenic,1.047426483,stabilizing,-0.077429342,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753A,NP_000240:p.Phe753Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.1046,0.0915,0.7565705315903981,Neutral,Neutral,False,0.176,4.72638,,,2.85091,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.4478,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9974,pathogenic,-0.177944834,destabilizing,0.380890514,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753C,NP_000240:p.Phe753Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33428,0.6068,1.388859008559834,Neutral,Neutral,False,0.176,4.30526,,,3.2975,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.4159,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9984,pathogenic,-0.013647197,neutral,0.279455907,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753D,NP_000240:p.Phe753Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08913,0.53265,0.7760032764867472,Uncertain,Uncertain,False,0.176,6.00322,,,3.51324,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5708,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9994,pathogenic,-0.279642414,destabilizing,0.524222238,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753E,NP_000240:p.Phe753Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26544,0.13503,0.5870836566944628,Neutral,Neutral,False,0.176,5.17418,,,3.38799,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5401,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9989,pathogenic,-0.403221875,destabilizing,0.554362436,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753G,NP_000240:p.Phe753Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.08673,1.19524,1.5685031599567656,Uncertain,Uncertain,False,0.176,5.36718,,,3.45288,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.4831,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.998,pathogenic,-0.108393249,destabilizing,0.430941191,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753H,NP_000240:p.Phe753His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.98543,0.18741,0.3040294310292446,Neutral,Neutral,False,0.176,2.44092,,,1.35035,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.4754,0.0001,-21.9459,loss_of_function,-2.94401468562039,0.6098673336658194,,,0.998,pathogenic,-0.038623452,neutral,0.362097511,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753I,NP_000240:p.Phe753Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.05239,0.54966,0.1277519373474556,Neutral,Neutral,False,0.176,3.20356,,,2.37465,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.3917,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9976,pathogenic,0.125544246,stabilizing,0.178948194,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753K,NP_000240:p.Phe753Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.55195,0.03639,0.6234812890272762,Neutral,Neutral,False,0.176,5.00744,,,3.82845,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.547,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.999,pathogenic,-0.36364286,destabilizing,0.404232291,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753L,NP_000240:p.Phe753Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.18712,-0.38878,-0.1624966119979853,Neutral,Neutral,False,0.176,3.05352,,,2.51783,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.3538,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9996,pathogenic,0.036367205,neutral,0.15830028,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753M,NP_000240:p.Phe753Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.04708,0.06327,0.1911122828338185,Neutral,Neutral,False,0.176,1.43386,,,2.11126,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.3848,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9969,pathogenic,0.089424907,neutral,0.171530837,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753N,NP_000240:p.Phe753Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.33304,0.11327,0.6251034379791622,Neutral,Neutral,False,0.176,4.57756,,,3.3574,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5004,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.999,pathogenic,-0.132111146,destabilizing,0.38768604,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753P,NP_000240:p.Phe753Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.97435,9.07177,4.833463994842005,Uncertain,Uncertain,False,0.176,5.22314,,,3.95417,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5711,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9999,pathogenic,-0.035419094,neutral,0.399491133,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753Q,NP_000240:p.Phe753Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.0824,-0.07585,0.6342181691048351,Neutral,Neutral,False,0.176,4.37502,,,3.05128,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5025,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9985,pathogenic,-0.185988963,destabilizing,0.462589913,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753R,NP_000240:p.Phe753Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.44541,-0.19694,0.2948238627199562,Neutral,Neutral,False,0.176,7.7768,,,3.58676,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.5484,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9962,pathogenic,-0.094184066,destabilizing,0.436742,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753S,NP_000240:p.Phe753Ser,"hg38,3:g.37050640T>C",,,0.978,"COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.26687,0.51259,0.93182101018728,Neutral,Neutral,False,0.176,4.33518,,,3.40484,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,3230775,Likely pathogenic,1,68.55,H,-0.4268,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9972,pathogenic,-0.362512784,destabilizing,0.418590726,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753T,NP_000240:p.Phe753Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.44572,0.83673,0.6701168569285817,Neutral,Neutral,False,0.176,4.35708,,,3.06981,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.4731,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9976,pathogenic,-0.33415121,destabilizing,0.406288173,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753V,NP_000240:p.Phe753Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.60297,0.50646,0.2721787645652779,Neutral,Neutral,False,0.176,4.16524,,,3.00894,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,68.55,H,-0.3861,0.0001,-21.9459,loss_of_function,-4.63125957706114,0.40157531532979357,,,0.9964,pathogenic,0.011502714,neutral,0.237279979,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753W,NP_000240:p.Phe753Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.21364,-1.00782,-0.2862447034290527,Neutral,Neutral,False,0.176,2.67712,,,0.6478,,,Uncertain,Uncertain,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,68.55,H,-0.3713,0.0001,-21.9459,loss_of_function,-2.94401468562039,0.6098673336658194,,,0.978,pathogenic,0.283626674,stabilizing,-0.07855547,neutral,https://doi.org/10.1101/2022.10.22.513328 +F753Y,NP_000240:p.Phe753Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.15271,-0.36122,0.1229808127498788,Neutral,Neutral,False,0.176,1.54762,,,1.52875,,,Uncertain,Destabilizing,Uncertain,78.7,,True,78.7,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,68.55,H,-0.3396,0.0001,-21.9459,loss_of_function,-2.94401468562039,0.6098673336658194,,,0.9793,pathogenic,0.028054812,neutral,0.096513309,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754A,NP_000240:p.Glu754Ala,"hg19,3:g.37092134A>C",,,0.940,"cBioPortal,saturation",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.22161,-0.16633,0.3363715450484628,Neutral,Neutral,False,0.081,0.35276,,,0.51538,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.3168,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.983,pathogenic,0.053271858,neutral,-0.118535332,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754C,NP_000240:p.Glu754Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.60205,0.18163,0.9763048238016504,Neutral,Neutral,False,0.081,0.49186,,,0.37041,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.3862,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9961,pathogenic,0.233367327,stabilizing,-0.366322442,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754D,NP_000240:p.Glu754Asp,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.595,0.29422,0.1829454645585082,Neutral,Neutral,False,0.081,-0.51102,,,0.12617,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,485803,Uncertain significance,1,66.64,T,-0.2825,0.0252,-21.9424,loss_of_function,-2.92914592458191,0.6117028966374852,,,0.9971,pathogenic,0.090335352,neutral,-0.13153022,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754F,NP_000240:p.Glu754Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.97679,-0.1585,0.0280587737921256,Neutral,Neutral,False,0.081,0.47704,,,0.38961,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3638,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9995,pathogenic,0.294710786,stabilizing,-0.557516465,damaging,https://doi.org/10.1101/2022.10.22.513328 +E754G,NP_000240:p.Glu754Gly,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.54153,0.52755,0.936418438511169,Neutral,Neutral,False,0.081,0.38914,,,0.51307,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.3426,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9738,pathogenic,0.134805691,stabilizing,-0.186250236,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754H,NP_000240:p.Glu754His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.14557,-0.16429,0.0106468407274801,Neutral,Neutral,False,0.081,0.315,,,0.72315,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3551,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9982,pathogenic,0.152663204,stabilizing,-0.332928879,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754I,NP_000240:p.Glu754Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.89252,-0.2017,-0.0018190456947975,Neutral,Neutral,False,0.081,0.31436,,,0.33426,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3692,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9985,pathogenic,0.168367408,stabilizing,-0.44984981,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754K,NP_000240:p.Glu754Lys,"hg19,3:g.37092133G>A",,,0.921,"cBioPortal,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.95084,-0.29354,0.1546824954172126,Neutral,Neutral,False,0.081,0.05846,,,0.49994,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,220259,Uncertain significance,1,66.64,T,-0.271,0.0252,-8.6545,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9916,pathogenic,0.126912819,stabilizing,-0.266555578,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754L,NP_000240:p.Glu754Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.68944,-0.41156,-0.3489139905464161,Neutral,Neutral,False,0.081,0.25466,,,0.52687,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3713,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9973,pathogenic,0.175628394,stabilizing,-0.495379679,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754M,NP_000240:p.Glu754Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-1.16904,-0.24626,0.0010702092526093,Neutral,Neutral,False,0.081,0.19432,,,0.49795,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3201,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9985,pathogenic,0.139865114,stabilizing,-0.449860512,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754N,NP_000240:p.Glu754Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.72269,-0.38265,0.2019616161646176,Neutral,Neutral,False,0.081,0.69964,,,0.43013,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.343,0.0252,-21.9424,loss_of_function,-2.92914592458191,0.6117028966374852,,,0.9989,pathogenic,-0.030469829,neutral,-0.159672465,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754P,NP_000240:p.Glu754Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.39665,6.52653,5.630677547992608,Uncertain,Uncertain,False,0.081,0.91608,,,0.41512,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.4738,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9989,pathogenic,0.130947471,stabilizing,-0.029413285,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754Q,NP_000240:p.Glu754Gln,"hg19,3:g.37092133G>C, hg38,3:g.37050642G>C",,,0.876,"cBioPortal,COSMIC,saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.52782,-0.25,0.2628882747244093,Neutral,Neutral,False,0.081,0.25592,,,0.52435,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,2820198,Uncertain significance,1,66.64,T,-0.2893,0.0252,-21.9424,loss_of_function,-2.92914592458191,0.6117028966374852,,,0.9319,pathogenic,0.110986701,stabilizing,-0.138180519,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754R,NP_000240:p.Glu754Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.50324,-0.25884,-0.1013343927234949,Neutral,Neutral,False,0.081,0.18196,,,0.45333,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3993,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9865,pathogenic,0.068076561,neutral,-0.189266692,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754S,NP_000240:p.Glu754Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.59139,-0.17959,0.4680630475631797,Neutral,Neutral,False,0.081,-0.32458,,,0.86506,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.3303,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9857,pathogenic,0.129575431,stabilizing,-0.16252452,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754T,NP_000240:p.Glu754Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.30793,0.27177,0.3401776078015123,Neutral,Neutral,False,0.081,1.05472,,,0.97896,,,Uncertain,Uncertain,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,66.64,T,-0.3462,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9956,pathogenic,0.02869128,neutral,-0.122287089,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754V,NP_000240:p.Glu754Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.28306,-0.35408,0.1644463364094689,Neutral,Neutral,False,0.081,0.5992,,,0.5569,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,66.64,T,-0.33,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.995,pathogenic,0.139828801,stabilizing,-0.361547052,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754W,NP_000240:p.Glu754Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.84223,-0.58231,-0.4489281893111241,Neutral,Neutral,False,0.081,0.12694,,,0.31704,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3739,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9996,pathogenic,0.47273366,stabilizing,-0.471223895,neutral,https://doi.org/10.1101/2022.10.22.513328 +E754Y,NP_000240:p.Glu754Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.83544,-0.1102,0.1232113711163679,Neutral,Neutral,False,0.081,0.23868,,,0.40105,,,Uncertain,Neutral,Uncertain,88.9,,True,88.9,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,66.64,T,-0.3646,0.0252,-21.9424,loss_of_function,-4.60736257201595,0.40452542378073597,,,0.9989,pathogenic,0.274479992,stabilizing,-0.368471129,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755A,NP_000240:p.Arg755Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.42651,0.77415,0.5253406513683001,Neutral,Neutral,False,0.027,0.8776,,,0.06223,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4083,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9977,pathogenic,0.096778542,neutral,-0.0699505,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755C,NP_000240:p.Arg755Cys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.21013,0.87449,1.1713140904611337,Neutral,Neutral,False,0.027,0.20642,,,0.02039,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4172,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.988,pathogenic,0.216172231,stabilizing,-0.271809007,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755D,NP_000240:p.Arg755Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.16981,1.22857,0.8261627403241308,Uncertain,Uncertain,False,0.027,-0.19012,,,-0.0133,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4994,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9964,pathogenic,0.095077389,neutral,0.043350342,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755E,NP_000240:p.Arg755Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.97106,0.74218,0.5967520505648407,Neutral,Neutral,False,0.027,0.81682,,,-0.00488,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4446,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9885,pathogenic,0.016259191,neutral,0.128351,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755F,NP_000240:p.Arg755Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.16776,0.42381,0.4528420020248058,Neutral,Neutral,False,0.027,-0.63654,,,-0.2581,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.64,T,-0.4405,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9987,pathogenic,0.471462302,stabilizing,-0.554435484,damaging,https://doi.org/10.1101/2022.10.22.513328 +R755G,NP_000240:p.Arg755Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.66314,1.53435,1.1954919859964193,Neutral,Neutral,False,0.027,0.82724,,,0.0636,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,219292,Pathogenic,3,59.64,T,-0.4437,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9938,pathogenic,0.23308365,stabilizing,-0.050784299,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755H,NP_000240:p.Arg755His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.41141,-0.51837,0.3826746950894238,Neutral,Neutral,False,0.027,-0.09172,,,-0.29793,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.3781,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9673,pathogenic,0.079456753,neutral,-0.17934151,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755I,NP_000240:p.Arg755Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.36251,0.41156,0.3096118085992472,Uncertain,Uncertain,False,0.027,0.13848,,,-0.19378,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4377,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9964,pathogenic,0.302684462,stabilizing,-0.354956644,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755K,NP_000240:p.Arg755Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.56007,0.23844,0.4300482613889772,Neutral,Neutral,False,0.027,-0.04916,,,-0.09608,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,59.64,T,-0.2986,0.0001,-21.9388,loss_of_function,-2.92914592458191,0.6117028966374852,,,0.9514,pathogenic,-0.036780981,neutral,-0.137523432,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755L,NP_000240:p.Arg755Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.25945,0.20578,-0.0379332528902864,Neutral,Neutral,False,0.027,-0.18384,,,0.06352,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4108,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9887,pathogenic,0.700094813,stabilizing,-0.448569039,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755M,NP_000240:p.Arg755Met,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.28125,0.74762,0.3034034983666184,Neutral,Neutral,False,0.027,-0.54302,,,-0.3013,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1788687,Uncertain significance,1,59.64,T,-0.3766,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.999,pathogenic,0.510498831,stabilizing,-0.386583316,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755N,NP_000240:p.Arg755Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.72946,0.04286,0.5030604190137467,Neutral,Neutral,False,0.027,0.57104,,,0.16619,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4232,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9957,pathogenic,0.274218602,stabilizing,-0.017719202,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755P,NP_000240:p.Arg755Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.42268,5.52755,6.158469196404481,Destabilizing,Destabilizing,False,0.027,1.04914,,,-0.05322,,,Uncertain,Uncertain,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.5504,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9981,pathogenic,0.219817154,stabilizing,-0.135301929,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755Q,NP_000240:p.Arg755Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.76425,0.20408,0.5952218887384472,Neutral,Neutral,False,0.027,0.53186,,,-0.07207,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.383,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9765,pathogenic,-0.082545533,destabilizing,-0.146954241,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755S,NP_000240:p.Arg755Ser,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.77998,0.20102,0.8634022016960854,Neutral,Neutral,False,0.027,0.22068,,,-0.07362,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,"2133431, 90106","Pathogenic, Uncertain significance","1, 3",59.64,T,-0.4089,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9981,pathogenic,0.025216941,neutral,-0.021283361,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755T,NP_000240:p.Arg755Thr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.23184,0.21361,0.7304361954639554,Neutral,Neutral,False,0.027,0.54568,,,0.0676,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,1788685,Uncertain significance,1,59.64,T,-0.4132,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9981,pathogenic,0.013090173,neutral,-0.027340398,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755V,NP_000240:p.Arg755Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),2.42751,0.32551,0.4330847317474928,Uncertain,Uncertain,False,0.027,0.81902,,,-0.05732,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,DOWN,-,neutral,neutral,,,,59.64,T,-0.4248,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9959,pathogenic,0.176809272,stabilizing,-0.343555866,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755W,NP_000240:p.Arg755Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.55401,0.53061,0.07847785618106,Neutral,Neutral,False,0.027,0.15096,,,-0.78807,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.64,T,-0.4261,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9859,pathogenic,0.61710137,stabilizing,-0.334049169,neutral,https://doi.org/10.1101/2022.10.22.513328 +R755Y,NP_000240:p.Arg755Tyr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),1.17619,0.55204,0.5439678708161477,Neutral,Neutral,False,0.027,0.31032,,,-0.37219,,,Uncertain,Neutral,Uncertain,88.0,,True,88.0,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,59.64,T,-0.4298,0.0001,-21.9388,loss_of_function,-4.60685471320517,0.4045881194435078,,,0.9924,pathogenic,0.438899142,stabilizing,-0.45840491,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756A,NP_000240:p.Cys756Ala,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.24422,-0.31531,-0.2803363729335029,Neutral,Neutral,False,0.024,0.88214,,,0.20342,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.27,-,-0.4909,0.0001,-21.9171,loss_of_function,-2.69891994721179,0.6401245168439379,,,0.9843,pathogenic,0.482024923,stabilizing,0.099967743,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756D,NP_000240:p.Cys756Asp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.73838,0.15442,-0.0502483705479966,Neutral,Neutral,False,0.024,0.31092,,,0.6195,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,55.27,-,-0.5981,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9985,pathogenic,0.299782174,stabilizing,0.125874068,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756E,NP_000240:p.Cys756Glu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.29166,-0.3085,-0.2920690119681002,Neutral,Neutral,False,0.024,-0.11928,,,0.99008,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5857,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9996,pathogenic,0.244258691,stabilizing,0.101245901,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756F,NP_000240:p.Cys756Phe,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.2968,0.42381,-0.8108682504826514,Neutral,Neutral,False,0.024,2.34688,,,-1.08278,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.4848,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9874,pathogenic,0.660800199,stabilizing,0.0204258,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756G,NP_000240:p.Cys756Gly,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.27206,0.14728,0.534843862099969,Neutral,Neutral,False,0.024,1.02878,,,0.4262,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,495766,Uncertain significance,2,55.27,-,-0.4833,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.968,pathogenic,0.423517072,stabilizing,0.1375449,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756H,NP_000240:p.Cys756His,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.36719,0.1898,-0.4877532052227101,Neutral,Neutral,False,0.024,2.26854,,,-1.66916,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5966,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9987,pathogenic,0.081252435,neutral,0.103661945,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756I,NP_000240:p.Cys756Ile,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19675,-0.29966,-0.9871204391702072,Neutral,Neutral,False,0.024,0.23822,,,-0.39879,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5147,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9951,pathogenic,0.548057961,stabilizing,0.042672954,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756K,NP_000240:p.Cys756Lys,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39091,-0.24082,-0.4200275231150163,Neutral,Neutral,False,0.024,0.15424,,,-0.30668,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5863,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9997,pathogenic,0.30788993,stabilizing,0.145039386,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756L,NP_000240:p.Cys756Leu,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.39688,-0.63163,-1.1936995331463651,Neutral,Neutral,False,0.024,1.01304,,,-0.3119,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5478,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9742,pathogenic,0.551250652,stabilizing,-0.066157431,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756M,NP_000240:p.Cys756Met,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.66547,-0.34762,-0.7982701628472416,Neutral,Neutral,False,0.024,-1.33862,,,-0.94074,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.515,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.992,pathogenic,0.638731216,stabilizing,-0.008629946,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756N,NP_000240:p.Cys756Asn,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.20984,-0.17449,-0.1917864289545939,Neutral,Neutral,False,0.024,0.90072,,,-0.61651,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5405,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9966,pathogenic,0.415955749,stabilizing,0.193997661,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756P,NP_000240:p.Cys756Pro,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),3.59639,-0.07687,4.623029417772178,Uncertain,Destabilizing,False,0.024,-0.33688,,,-0.12745,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,-,-,uncertain,neutral,,,,55.27,-,-0.6092,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9989,pathogenic,0.261439745,stabilizing,-0.013534145,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756Q,NP_000240:p.Cys756Gln,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.13086,-0.36905,-0.2486065993627551,Neutral,Neutral,False,0.024,0.48258,,,-0.07715,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5645,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9991,pathogenic,0.423749802,stabilizing,0.078862529,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756R,NP_000240:p.Cys756Arg,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.25297,-0.30578,-0.7320056351696463,Neutral,Neutral,False,0.024,1.457,,,-0.68404,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5431,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.998,pathogenic,0.491462171,stabilizing,0.138800543,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756S,NP_000240:p.Cys756Ser,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.29907,-0.31769,0.1310256686830013,Neutral,Neutral,False,0.024,0.9142,,,-0.2987,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,DOWN,-,mixed_effects,neutral,,,,55.27,-,-0.4816,0.0001,-21.9171,loss_of_function,-2.69891994721179,0.6401245168439379,,,0.9892,pathogenic,0.397088643,stabilizing,0.107686125,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756T,NP_000240:p.Cys756Thr,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.19615,-0.27823,-0.1619154960483382,Neutral,Neutral,False,0.024,0.58756,,,-0.13099,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5163,0.0001,-21.9171,loss_of_function,-2.69891994721179,0.6401245168439379,,,0.9927,pathogenic,0.464363639,stabilizing,0.172506725,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756V,NP_000240:p.Cys756Val,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),0.2356,-0.22517,-0.7051300001909894,Neutral,Neutral,False,0.024,-0.05556,,,-0.01011,,,Uncertain,Neutral,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.5128,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9798,pathogenic,0.630129383,stabilizing,0.068583316,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756W,NP_000240:p.Cys756Trp,,,,,saturation,DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.82699,-0.38503,-1.192828172902698,Neutral,Neutral,False,0.024,1.3527,,,-1.86755,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,,,,55.27,-,-0.488,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.998,pathogenic,0.981985005,stabilizing,-0.113344153,neutral,https://doi.org/10.1101/2022.10.22.513328 +C756Y,NP_000240:p.Cys756Tyr,,,,,"saturation,clinvar",DNA mismatch repair protein Mlh1 C-terminus (PF16413),-0.33587,0.20986,-0.6508094774779277,Neutral,Neutral,False,0.024,1.83132,,,-0.91047,,,Uncertain,Uncertain,Uncertain,74.5,,False,74.5,,neutral,neutral,neutral,UP,-,neutral,neutral,525793,Uncertain significance,1,55.27,-,-0.4942,0.0001,-21.9171,loss_of_function,-4.24122270465398,0.44972574553188804,,,0.9959,pathogenic,0.708463456,stabilizing,-0.014915544,neutral,https://doi.org/10.1101/2022.10.22.513328 diff --git a/tools/MAVISpBenchmark/example/config.yaml b/tools/MAVISpBenchmark/example/config.yaml new file mode 100644 index 0000000..a1a643e --- /dev/null +++ b/tools/MAVISpBenchmark/example/config.yaml @@ -0,0 +1,85 @@ +modes: + simple: + experimental_column: "Experimental data (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_column_classification: "Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_thresholds: [-1,-0.161,1] + normalization: + Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" + Uncertain: + - "Uncertain" + - "uncertain" + comparisons: + - name: "Rosetta-FoldX_consensus_with_GEMME" + columns: ["Stability classification, alphafold, (Rosetta, FoldX)", "GEMME classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + - name: "Rosetta-FoldX_consensus_with_DeMaSK" + columns: ["Stability classification, alphafold, (Rosetta, FoldX)", "DeMaSk classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["DeMaSk classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + Neutral: ["DeMaSk classification", "Stability classification, alphafold, (Rosetta, FoldX)"] + - name: "RaSP-FoldX_consensus_with_GEMME" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "GEMME classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + - name: "RaSP-FoldX_consensus_with_DeMaSK" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "DeMaSk classification"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)"] + - name: "RaSP-FoldX_consensus_comparison" + columns: ["Stability classification, alphafold, (RaSP, FoldX)"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["Stability classification, alphafold, (RaSP, FoldX)"] + ensemble: + experimental_column: "Experimental data (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_column_classification: "Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_thresholds: [-1,-0.161,1] + normalization: + Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" + Uncertain: + - "Uncertain" + - "uncertain" + comparisons: + - name: "RaSP-FoldX_consensus_comparison" + columns: ["Stability classification, (RaSP, FoldX) [md]"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["Stability classification, (RaSP, FoldX) [md]"] + Neutral: ["Stability classification, (RaSP, FoldX) [md]"] diff --git a/tools/MAVISpBenchmark/example/exclude_residues.csv b/tools/MAVISpBenchmark/example/exclude_residues.csv new file mode 100644 index 0000000..ac78c4f --- /dev/null +++ b/tools/MAVISpBenchmark/example/exclude_residues.csv @@ -0,0 +1,19 @@ +protein,position +MLH1,E34 +MLH1,C39 +MLH1,N38 +MLH1,A42 +MLH1,D63 +MLH1,T66 +MLH1,I68 +MLH1,V76 +MLH1,T82 +MLH1,S83 +MLH1,K84 +MLH1,R100 +MLH1,G101 +MLH1,A103 +MLH1,T148 +MLH1,I150 + + diff --git a/tools/MAVISpBenchmark/example/readme.txt b/tools/MAVISpBenchmark/example/readme.txt new file mode 100644 index 0000000..a7229b6 --- /dev/null +++ b/tools/MAVISpBenchmark/example/readme.txt @@ -0,0 +1,5 @@ +The folder contains an example of MAVISpBenchmark.py and a test_logic folder with an analysis designed to test the classification logic. +For the test_logic folder, please follow the instructions in the README inside the folder. +To run the example: +bash run.sh + diff --git a/tools/MAVISpBenchmark/example/run.sh b/tools/MAVISpBenchmark/example/run.sh new file mode 100644 index 0000000..1d21e26 --- /dev/null +++ b/tools/MAVISpBenchmark/example/run.sh @@ -0,0 +1,2 @@ +module load python/3.10/modulefile +python ../MAVISpBenchmark.py -S -y config.yaml -rr exclude_residues.csv -sp diff --git a/tools/MAVISpBenchmark/test_classification_logic/config.yaml b/tools/MAVISpBenchmark/test_classification_logic/config.yaml new file mode 100644 index 0000000..859569e --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/config.yaml @@ -0,0 +1,48 @@ +modes: + simple: + experimental_column: "Experimental data (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_column_classification: "Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" + experimental_thresholds: [-1,-0.161,1] + normalization: + Damaging: + - "Damaging" + - "damaging" + - "Destabilizing" + - "destabilizing" + - "pathogenic" + - "Pathogenic" + Neutral: + - "Neutral" + - "neutral" + - "Benign" + - "benign" + Uncertain: + - "Uncertain" + - "uncertain" + comparisons: + - name: "RaSP-FoldX_consensus_with_GEMME_local" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "GEMME classification", "Local Int. classification (PMS2_AFmulti)"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + Neutral: ["GEMME classification", "Stability classification, alphafold, (RaSP, FoldX)"] + - name: "RaSP-FoldX_consensus_with_DeMaSK_local" + columns: ["Stability classification, alphafold, (RaSP, FoldX)", "DeMaSk classification", "Local Int. classification (PMS2_AFmulti)"] + priority: + class_order: ["Damaging", "Neutral"] + priority_for_classification: + Damaging: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)", "Local Int. classification (PMS2_AFmulti)"] + Neutral: ["DeMaSk classification", "Stability classification, alphafold, (RaSP, FoldX)","Local Int. classification (PMS2_AFmulti)"] + weighted: + weights: + "DeMaSk classification": 0.4 + "Stability classification, alphafold, (RaSP, FoldX)": 0.3 + "Local Int. classification (PMS2_AFmulti)": 0.3 + threshold: 0.5 + voting: + target_class: "Damaging" + logic: "majority" + fallback: "Neutral" + handle_uncertain: "return_uncertain" + diff --git a/tools/MAVISpBenchmark/test_classification_logic/generate_test.py b/tools/MAVISpBenchmark/test_classification_logic/generate_test.py new file mode 100644 index 0000000..3d8621f --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/generate_test.py @@ -0,0 +1,56 @@ +import itertools +import pandas as pd +import random + +def random_mutation(): + aa = list("ACDEFGHIKLMNPQRSTVWY") + return f"{random.choice(aa)}{random.randint(1, 50)}{random.choice(aa)}" + +def demask_value(label): + return random.uniform(-0.5, -0.25) if label == "Damaging" else random.uniform(-0.249, 0.249) + +def gemme_value(label): + return random.uniform(-5, -3) if label == "Damaging" else random.uniform(-2.9, 2.9) + +def dhfr_pca_value(label): + if label == "Damaging": + return random.uniform(-1, -0.161) + elif label == "Neutral": + return random.uniform(-0.161, 1) + else: + return None + +# Colonne +columns = [ + "Stability classification, alphafold, (RaSP, FoldX)", # binaria + "Experimental data (DHFR-PCA yeast, Stability (MAVEdb))", # numerica + "Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))", # binaria + "DeMaSk delta fitness", # binaria -> numerica + "GEMME Score", # binaria -> numerica + "Local Int. classification (PMS2_AFmulti)" # binaria +] + +classes = ["Damaging", "Neutral"] + +rows = [] + +# Generiamo tutte le combinazioni delle 5 colonne binarie (tranne la numerica) +for combo in itertools.product(classes, repeat=5): + mutation = random_mutation() + exp_class = combo[2] # colonna di classificazione DHFR + row = { + "Mutation": mutation, + columns[0]: combo[0], + columns[2]: exp_class, + columns[1]: dhfr_pca_value(exp_class), # numero coerente con la classificazione + columns[3]: demask_value(combo[3]), + columns[4]: gemme_value(combo[4]), + columns[5]: combo[4] # Local Int. puoi usare lo stesso combo[4] o random + } + rows.append(row) + +df = pd.DataFrame(rows) +df["Relative Side Chain Solvent Accessibility in wild-type"] = 20 +df.to_csv("test-simple_mode.csv", index=False) +print(f"Generated CSV with {len(df)} simulated mutations.") + diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/DeMaSk_comparison/confusion_matrix/confusion_matrix.pdf b/tools/MAVISpBenchmark/test_classification_logic/output/simple/DeMaSk_comparison/confusion_matrix/confusion_matrix.pdf new file mode 100644 index 0000000000000000000000000000000000000000..80f6ba64d68d78a620e96682236f07fb255b3273 GIT binary patch literal 14233 zcmbt*2|Sct)VN3(B7~IXu_eOn!(_?6WM7LY+gP&C3`r_$cu{tdB}X4<;)XayWXs{AQ*p#g!0 zP>`SV0fdSQgtR*3PlAwIPE;pvKX(Xe=HyPIKp4=$0#Z{$kbGU?j!M4`(Dn1BLReY{ z{Z>izSH) 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(MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted +test,I14P,Damaging,Damaging,-0.5485085786261057,-0.3340722883498666,-4.6959095698817945,Damaging,20,P,I14,14,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,T27C,Damaging,Damaging,-0.8803614167413731,-0.4139538328824924,0.9461846974284502,Neutral,20,C,T27,27,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,E6N,Damaging,Damaging,-0.7356710431721634,-0.0769904108245136,-3.141806966360965,Damaging,20,N,E6,6,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,H50M,Damaging,Damaging,-0.998593243402809,-0.1588468841129663,0.8560932142605653,Neutral,20,M,H50,50,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,P44H,Damaging,Neutral,0.3767558319512597,-0.4658575818770757,-4.986566986228106,Damaging,20,H,P44,44,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,Y44F,Damaging,Neutral,-0.0501824586466818,-0.3785292512407085,-0.2023682565158941,Neutral,20,F,Y44,44,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,K20D,Damaging,Neutral,0.6371370383946783,0.1510999845000993,-4.528905844781005,Damaging,20,D,K20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,C45G,Damaging,Neutral,0.6393425266852282,-0.1509539613007354,1.6595875787614562,Neutral,20,G,C45,45,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,A41V,Damaging,Damaging,-0.3283089355278537,-0.2803002435666951,-4.876314012494955,Damaging,20,V,A41,41,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,E10M,Damaging,Damaging,-0.7370379461789627,-0.3214186934116215,1.1474094601164295,Neutral,20,M,E10,10,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,Y20H,Damaging,Damaging,-0.9989914381849928,0.0300216938014584,-3.965052306717274,Damaging,20,H,Y20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,L1A,Damaging,Damaging,-0.1979900946385598,0.0288808485661375,2.153271501206184,Neutral,20,A,L1,1,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,H3G,Damaging,Neutral,-0.0598036353722254,-0.4246044413718888,-4.69821421785013,Damaging,20,G,H3,3,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,D37P,Damaging,Neutral,0.36664692422511,-0.4094545805223015,1.237884481755286,Neutral,20,P,D37,37,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,F48L,Damaging,Neutral,0.3173533213673072,-0.1963804686524297,-3.876805130951463,Damaging,20,L,F48,48,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/DeMaSk_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/weighted/scatter_plot_data.csv @@ -0,0 +1,33 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted +test,I14P,Damaging,Damaging,-0.5485085786261057,-0.3340722883498666,-4.6959095698817945,Damaging,20,P,I14,14,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging 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a/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/weighted/scatter_plot_data.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/weighted/scatter_plot_data.csv new file mode 100644 index 0000000..1267558 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/weighted/scatter_plot_data.csv @@ -0,0 +1,33 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted +test,I14P,Damaging,Damaging,-0.5485085786261057,-0.3340722883498666,-4.6959095698817945,Damaging,20,P,I14,14,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,T27C,Damaging,Damaging,-0.8803614167413731,-0.4139538328824924,0.9461846974284502,Neutral,20,C,T27,27,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,E6N,Damaging,Damaging,-0.7356710431721634,-0.0769904108245136,-3.141806966360965,Damaging,20,N,E6,6,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,H50M,Damaging,Damaging,-0.998593243402809,-0.1588468841129663,0.8560932142605653,Neutral,20,M,H50,50,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,P44H,Damaging,Neutral,0.3767558319512597,-0.4658575818770757,-4.986566986228106,Damaging,20,H,P44,44,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,Y44F,Damaging,Neutral,-0.0501824586466818,-0.3785292512407085,-0.2023682565158941,Neutral,20,F,Y44,44,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,K20D,Damaging,Neutral,0.6371370383946783,0.1510999845000993,-4.528905844781005,Damaging,20,D,K20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,C45G,Damaging,Neutral,0.6393425266852282,-0.1509539613007354,1.6595875787614562,Neutral,20,G,C45,45,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,A41V,Damaging,Damaging,-0.3283089355278537,-0.2803002435666951,-4.876314012494955,Damaging,20,V,A41,41,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,E10M,Damaging,Damaging,-0.7370379461789627,-0.3214186934116215,1.1474094601164295,Neutral,20,M,E10,10,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,Y20H,Damaging,Damaging,-0.9989914381849928,0.0300216938014584,-3.965052306717274,Damaging,20,H,Y20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,L1A,Damaging,Damaging,-0.1979900946385598,0.0288808485661375,2.153271501206184,Neutral,20,A,L1,1,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,H3G,Damaging,Neutral,-0.0598036353722254,-0.4246044413718888,-4.69821421785013,Damaging,20,G,H3,3,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,D37P,Damaging,Neutral,0.36664692422511,-0.4094545805223015,1.237884481755286,Neutral,20,P,D37,37,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,F48L,Damaging,Neutral,0.3173533213673072,-0.1963804686524297,-3.876805130951463,Damaging,20,L,F48,48,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,M47K,Damaging,Neutral,0.7463088706999101,-0.1358274445583226,-0.8230034568152051,Neutral,20,K,M47,47,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,A28Q,Neutral,Damaging,-0.3221317079095906,-0.3087920630094767,-4.754677928808771,Damaging,20,Q,A28,28,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,A32N,Neutral,Damaging,-0.4212454418294219,-0.2921331326574343,0.6357300840986171,Neutral,20,N,A32,32,Neutral,Damaging,Neutral,Neutral,Damaging,Neutral +test,E39W,Neutral,Damaging,-0.5353579982689727,0.0470734351833524,-4.883273998489387,Damaging,20,W,E39,39,Damaging,Neutral,Damaging,Neutral,Damaging,Neutral +test,I41S,Neutral,Damaging,-0.6912392907322666,-0.0884927076041201,-0.5619626372673805,Neutral,20,S,I41,41,Neutral,Neutral,Neutral,Neutral,Neutral,Neutral +test,P19I,Neutral,Neutral,0.9799280219318778,-0.3501649112752728,-3.4106096833519564,Damaging,20,I,P19,19,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,R32Y,Neutral,Neutral,0.658046432593992,-0.3149445757924626,0.6872347557663745,Neutral,20,Y,R32,32,Neutral,Damaging,Neutral,Neutral,Damaging,Neutral +test,M14Y,Neutral,Neutral,0.9915797469195372,0.1307947578388297,-3.4575855507813937,Damaging,20,Y,M14,14,Damaging,Neutral,Damaging,Neutral,Damaging,Neutral +test,K13W,Neutral,Neutral,0.7905405581843895,-0.2396392286705926,-1.081310512778089,Neutral,20,W,K13,13,Neutral,Neutral,Neutral,Neutral,Neutral,Neutral +test,A22H,Neutral,Damaging,-0.2938196604587407,-0.3872766625738478,-4.095397891142913,Damaging,20,H,A22,22,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,N41V,Neutral,Damaging,-0.994865351166023,-0.4193790411700899,-2.7674185937144364,Neutral,20,V,N41,41,Neutral,Damaging,Neutral,Neutral,Damaging,Neutral +test,T2S,Neutral,Damaging,-0.2779951359078824,0.0739089459286583,-3.489098671741628,Damaging,20,S,T2,2,Damaging,Neutral,Damaging,Neutral,Damaging,Neutral +test,H14P,Neutral,Damaging,-0.4768551501441169,-0.2140586217501936,0.5262383574443557,Neutral,20,P,H14,14,Neutral,Neutral,Neutral,Neutral,Neutral,Neutral +test,S49V,Neutral,Neutral,0.5565686731350925,-0.3454096969634498,-4.034562362338098,Damaging,20,V,S49,49,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,D14G,Neutral,Neutral,0.659091680630824,-0.3354905139394618,-2.6786180756788176,Neutral,20,G,D14,14,Neutral,Damaging,Neutral,Neutral,Damaging,Neutral +test,L18F,Neutral,Neutral,0.91369580695709,0.1813318611928225,-3.450391375055921,Damaging,20,F,L18,18,Damaging,Neutral,Damaging,Neutral,Damaging,Neutral +test,C38K,Neutral,Neutral,0.4869402545147832,0.2383180868944767,0.9465927732772572,Neutral,20,K,C38,38,Neutral,Neutral,Neutral,Neutral,Neutral,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_GEMME_local/priority/scatter_plot.pdf b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_GEMME_local/priority/scatter_plot.pdf new file mode 100644 index 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a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv new file mode 100644 index 0000000..9406793 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,RaSP-FoldX_consensus_with_DeMaSK_local_priority,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,Damaging,-0.5485085786261057,Damaging +T27C,Damaging,-0.8803614167413731,Damaging +E6N,Damaging,-0.7356710431721634,Damaging +H50M,Damaging,-0.998593243402809,Damaging +P44H,Damaging,0.3767558319512597,Neutral +Y44F,Damaging,-0.0501824586466818,Neutral +K20D,Damaging,0.6371370383946783,Neutral +C45G,Damaging,0.6393425266852282,Neutral +A41V,Damaging,-0.3283089355278537,Damaging +E10M,Damaging,-0.7370379461789627,Damaging +Y20H,Damaging,-0.9989914381849928,Damaging +L1A,Damaging,-0.1979900946385598,Damaging +H3G,Damaging,-0.0598036353722254,Neutral +D37P,Damaging,0.36664692422511,Neutral +F48L,Damaging,0.3173533213673072,Neutral +M47K,Damaging,0.7463088706999101,Neutral +A28Q,Damaging,-0.3221317079095906,Damaging +A32N,Damaging,-0.4212454418294219,Damaging +E39W,Damaging,-0.5353579982689727,Damaging +I41S,Neutral,-0.6912392907322666,Damaging +P19I,Damaging,0.9799280219318778,Neutral +R32Y,Damaging,0.658046432593992,Neutral +M14Y,Damaging,0.9915797469195372,Neutral +K13W,Neutral,0.7905405581843895,Neutral +A22H,Damaging,-0.2938196604587407,Damaging +N41V,Damaging,-0.994865351166023,Damaging +T2S,Damaging,-0.2779951359078824,Damaging +H14P,Neutral,-0.4768551501441169,Damaging +S49V,Damaging,0.5565686731350925,Neutral +D14G,Damaging,0.659091680630824,Neutral +L18F,Damaging,0.91369580695709,Neutral +C38K,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv new file mode 100644 index 0000000..f0261b8 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv @@ -0,0 +1,15 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted,WT_res,Mut_class,WT_class +test,P44H,Damaging,Neutral,0.3767558319512597,-0.4658575818770757,-4.986566986228106,Damaging,20,H,P44,44,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging,P,Basic,Nonpolar +test,Y44F,Damaging,Neutral,-0.0501824586466818,-0.3785292512407085,-0.2023682565158941,Neutral,20,F,Y44,44,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging,Y,Aromatic,Aromatic +test,K20D,Damaging,Neutral,0.6371370383946783,0.1510999845000993,-4.528905844781005,Damaging,20,D,K20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging,K,Acidic,Basic +test,C45G,Damaging,Neutral,0.6393425266852282,-0.1509539613007354,1.6595875787614562,Neutral,20,G,C45,45,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral,C,Nonpolar,Polar +test,H3G,Damaging,Neutral,-0.0598036353722254,-0.4246044413718888,-4.69821421785013,Damaging,20,G,H3,3,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging,H,Nonpolar,Basic +test,D37P,Damaging,Neutral,0.36664692422511,-0.4094545805223015,1.237884481755286,Neutral,20,P,D37,37,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging,D,Nonpolar,Acidic +test,F48L,Damaging,Neutral,0.3173533213673072,-0.1963804686524297,-3.876805130951463,Damaging,20,L,F48,48,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging,F,Nonpolar,Aromatic 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv new file mode 100644 index 0000000..d1ad506 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,GEMME Score,GEMME classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-4.6959095698817945,Damaging,-0.5485085786261057,Damaging +T27C,0.9461846974284502,Neutral,-0.8803614167413731,Damaging +E6N,-3.141806966360965,Damaging,-0.7356710431721634,Damaging +H50M,0.8560932142605653,Neutral,-0.998593243402809,Damaging +P44H,-4.986566986228106,Damaging,0.3767558319512597,Neutral +Y44F,-0.2023682565158941,Neutral,-0.0501824586466818,Neutral +K20D,-4.528905844781005,Damaging,0.6371370383946783,Neutral +C45G,1.6595875787614562,Neutral,0.6393425266852282,Neutral +A41V,-4.876314012494955,Damaging,-0.3283089355278537,Damaging +E10M,1.1474094601164295,Neutral,-0.7370379461789627,Damaging +Y20H,-3.965052306717274,Damaging,-0.9989914381849928,Damaging +L1A,2.153271501206184,Neutral,-0.1979900946385598,Damaging +H3G,-4.69821421785013,Damaging,-0.0598036353722254,Neutral +D37P,1.237884481755286,Neutral,0.36664692422511,Neutral +F48L,-3.876805130951463,Damaging,0.3173533213673072,Neutral +M47K,-0.8230034568152051,Neutral,0.7463088706999101,Neutral +A28Q,-4.754677928808771,Damaging,-0.3221317079095906,Damaging +A32N,0.6357300840986171,Neutral,-0.4212454418294219,Damaging +E39W,-4.883273998489387,Damaging,-0.5353579982689727,Damaging +I41S,-0.5619626372673805,Neutral,-0.6912392907322666,Damaging +P19I,-3.4106096833519564,Damaging,0.9799280219318778,Neutral +R32Y,0.6872347557663745,Neutral,0.658046432593992,Neutral +M14Y,-3.4575855507813937,Damaging,0.9915797469195372,Neutral +K13W,-1.081310512778089,Neutral,0.7905405581843895,Neutral +A22H,-4.095397891142913,Damaging,-0.2938196604587407,Damaging +N41V,-2.7674185937144364,Neutral,-0.994865351166023,Damaging +T2S,-3.489098671741628,Damaging,-0.2779951359078824,Damaging +H14P,0.5262383574443557,Neutral,-0.4768551501441169,Damaging +S49V,-4.034562362338098,Damaging,0.5565686731350925,Neutral +D14G,-2.6786180756788176,Neutral,0.659091680630824,Neutral +L18F,-3.450391375055921,Damaging,0.91369580695709,Neutral +C38K,0.9465927732772572,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/metrics.csv 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-0,0 +1,33 @@ +Mutation,DeMaSk delta fitness,DeMaSk classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-0.3340722883498666,Damaging,-0.5485085786261057,Damaging +T27C,-0.4139538328824924,Damaging,-0.8803614167413731,Damaging +E6N,-0.0769904108245136,Neutral,-0.7356710431721634,Damaging +H50M,-0.1588468841129663,Neutral,-0.998593243402809,Damaging +P44H,-0.4658575818770757,Damaging,0.3767558319512597,Neutral +Y44F,-0.3785292512407085,Damaging,-0.0501824586466818,Neutral +K20D,0.1510999845000993,Neutral,0.6371370383946783,Neutral +C45G,-0.1509539613007354,Neutral,0.6393425266852282,Neutral +A41V,-0.2803002435666951,Damaging,-0.3283089355278537,Damaging +E10M,-0.3214186934116215,Damaging,-0.7370379461789627,Damaging +Y20H,0.0300216938014584,Neutral,-0.9989914381849928,Damaging +L1A,0.0288808485661375,Neutral,-0.1979900946385598,Damaging +H3G,-0.4246044413718888,Damaging,-0.0598036353722254,Neutral +D37P,-0.4094545805223015,Damaging,0.36664692422511,Neutral +F48L,-0.1963804686524297,Neutral,0.3173533213673072,Neutral +M47K,-0.1358274445583226,Neutral,0.7463088706999101,Neutral +A28Q,-0.3087920630094767,Damaging,-0.3221317079095906,Damaging +A32N,-0.2921331326574343,Damaging,-0.4212454418294219,Damaging +E39W,0.0470734351833524,Neutral,-0.5353579982689727,Damaging +I41S,-0.0884927076041201,Neutral,-0.6912392907322666,Damaging +P19I,-0.3501649112752728,Damaging,0.9799280219318778,Neutral +R32Y,-0.3149445757924626,Damaging,0.658046432593992,Neutral +M14Y,0.1307947578388297,Neutral,0.9915797469195372,Neutral +K13W,-0.2396392286705926,Neutral,0.7905405581843895,Neutral +A22H,-0.3872766625738478,Damaging,-0.2938196604587407,Damaging +N41V,-0.4193790411700899,Damaging,-0.994865351166023,Damaging +T2S,0.0739089459286583,Neutral,-0.2779951359078824,Damaging +H14P,-0.2140586217501936,Neutral,-0.4768551501441169,Damaging +S49V,-0.3454096969634498,Damaging,0.5565686731350925,Neutral +D14G,-0.3354905139394618,Damaging,0.659091680630824,Neutral +L18F,0.1813318611928225,Neutral,0.91369580695709,Neutral +C38K,0.2383180868944767,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/voting/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/voting/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv new file mode 100644 index 0000000..72394eb --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/voting/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv @@ -0,0 +1,2 @@ +sensitivity,specificity,accuracy,precision,F1 score 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/voting/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv new file mode 100644 index 0000000..d1ad506 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/voting/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,GEMME Score,GEMME classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-4.6959095698817945,Damaging,-0.5485085786261057,Damaging +T27C,0.9461846974284502,Neutral,-0.8803614167413731,Damaging +E6N,-3.141806966360965,Damaging,-0.7356710431721634,Damaging +H50M,0.8560932142605653,Neutral,-0.998593243402809,Damaging +P44H,-4.986566986228106,Damaging,0.3767558319512597,Neutral 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/weighted/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,DeMaSk delta fitness,DeMaSk classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-0.3340722883498666,Damaging,-0.5485085786261057,Damaging +T27C,-0.4139538328824924,Damaging,-0.8803614167413731,Damaging +E6N,-0.0769904108245136,Neutral,-0.7356710431721634,Damaging +H50M,-0.1588468841129663,Neutral,-0.998593243402809,Damaging +P44H,-0.4658575818770757,Damaging,0.3767558319512597,Neutral +Y44F,-0.3785292512407085,Damaging,-0.0501824586466818,Neutral +K20D,0.1510999845000993,Neutral,0.6371370383946783,Neutral +C45G,-0.1509539613007354,Neutral,0.6393425266852282,Neutral +A41V,-0.2803002435666951,Damaging,-0.3283089355278537,Damaging 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/weighted/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv new file mode 100644 index 0000000..d1ad506 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/weighted/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,GEMME Score,GEMME classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-4.6959095698817945,Damaging,-0.5485085786261057,Damaging +T27C,0.9461846974284502,Neutral,-0.8803614167413731,Damaging +E6N,-3.141806966360965,Damaging,-0.7356710431721634,Damaging +H50M,0.8560932142605653,Neutral,-0.998593243402809,Damaging +P44H,-4.986566986228106,Damaging,0.3767558319512597,Neutral 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+R32Y,0.6872347557663745,Neutral,0.658046432593992,Neutral +M14Y,-3.4575855507813937,Damaging,0.9915797469195372,Neutral +K13W,-1.081310512778089,Neutral,0.7905405581843895,Neutral +A22H,-4.095397891142913,Damaging,-0.2938196604587407,Damaging +N41V,-2.7674185937144364,Neutral,-0.994865351166023,Damaging +T2S,-3.489098671741628,Damaging,-0.2779951359078824,Damaging +H14P,0.5262383574443557,Neutral,-0.4768551501441169,Damaging +S49V,-4.034562362338098,Damaging,0.5565686731350925,Neutral +D14G,-2.6786180756788176,Neutral,0.659091680630824,Neutral +L18F,-3.450391375055921,Damaging,0.91369580695709,Neutral +C38K,0.9465927732772572,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_DeMaSK_local_comparison/weighted/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/metrics.csv 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HcmV?d00001 diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv new file mode 100644 index 0000000..94decf1 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,RaSP-FoldX_consensus_with_GEMME_local_priority,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,Damaging,-0.5485085786261057,Damaging +T27C,Damaging,-0.8803614167413731,Damaging +E6N,Damaging,-0.7356710431721634,Damaging +H50M,Damaging,-0.998593243402809,Damaging +P44H,Damaging,0.3767558319512597,Neutral +Y44F,Damaging,-0.0501824586466818,Neutral +K20D,Damaging,0.6371370383946783,Neutral +C45G,Damaging,0.6393425266852282,Neutral +A41V,Damaging,-0.3283089355278537,Damaging +E10M,Damaging,-0.7370379461789627,Damaging +Y20H,Damaging,-0.9989914381849928,Damaging +L1A,Damaging,-0.1979900946385598,Damaging +H3G,Damaging,-0.0598036353722254,Neutral +D37P,Damaging,0.36664692422511,Neutral +F48L,Damaging,0.3173533213673072,Neutral +M47K,Damaging,0.7463088706999101,Neutral +A28Q,Damaging,-0.3221317079095906,Damaging +A32N,Neutral,-0.4212454418294219,Damaging +E39W,Damaging,-0.5353579982689727,Damaging +I41S,Neutral,-0.6912392907322666,Damaging +P19I,Damaging,0.9799280219318778,Neutral +R32Y,Neutral,0.658046432593992,Neutral +M14Y,Damaging,0.9915797469195372,Neutral +K13W,Neutral,0.7905405581843895,Neutral +A22H,Damaging,-0.2938196604587407,Damaging +N41V,Neutral,-0.994865351166023,Damaging +T2S,Damaging,-0.2779951359078824,Damaging +H14P,Neutral,-0.4768551501441169,Damaging +S49V,Damaging,0.5565686731350925,Neutral +D14G,Neutral,0.659091680630824,Neutral +L18F,Damaging,0.91369580695709,Neutral +C38K,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv new file mode 100644 index 0000000..bca0094 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/divergent_classification_analysis/discordant_damaging/discordant_classification_damaging.csv @@ -0,0 +1,13 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted,WT_res,Mut_class,WT_class +test,P44H,Damaging,Neutral,0.3767558319512597,-0.4658575818770757,-4.986566986228106,Damaging,20,H,P44,44,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging,P,Basic,Nonpolar +test,Y44F,Damaging,Neutral,-0.0501824586466818,-0.3785292512407085,-0.2023682565158941,Neutral,20,F,Y44,44,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging,Y,Aromatic,Aromatic 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@@ -0,0 +1,33 @@ +Mutation,DeMaSk delta fitness,DeMaSk classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-0.3340722883498666,Damaging,-0.5485085786261057,Damaging +T27C,-0.4139538328824924,Damaging,-0.8803614167413731,Damaging +E6N,-0.0769904108245136,Neutral,-0.7356710431721634,Damaging +H50M,-0.1588468841129663,Neutral,-0.998593243402809,Damaging +P44H,-0.4658575818770757,Damaging,0.3767558319512597,Neutral +Y44F,-0.3785292512407085,Damaging,-0.0501824586466818,Neutral +K20D,0.1510999845000993,Neutral,0.6371370383946783,Neutral +C45G,-0.1509539613007354,Neutral,0.6393425266852282,Neutral +A41V,-0.2803002435666951,Damaging,-0.3283089355278537,Damaging +E10M,-0.3214186934116215,Damaging,-0.7370379461789627,Damaging +Y20H,0.0300216938014584,Neutral,-0.9989914381849928,Damaging +L1A,0.0288808485661375,Neutral,-0.1979900946385598,Damaging +H3G,-0.4246044413718888,Damaging,-0.0598036353722254,Neutral +D37P,-0.4094545805223015,Damaging,0.36664692422511,Neutral +F48L,-0.1963804686524297,Neutral,0.3173533213673072,Neutral +M47K,-0.1358274445583226,Neutral,0.7463088706999101,Neutral +A28Q,-0.3087920630094767,Damaging,-0.3221317079095906,Damaging +A32N,-0.2921331326574343,Damaging,-0.4212454418294219,Damaging +E39W,0.0470734351833524,Neutral,-0.5353579982689727,Damaging +I41S,-0.0884927076041201,Neutral,-0.6912392907322666,Damaging +P19I,-0.3501649112752728,Damaging,0.9799280219318778,Neutral +R32Y,-0.3149445757924626,Damaging,0.658046432593992,Neutral +M14Y,0.1307947578388297,Neutral,0.9915797469195372,Neutral +K13W,-0.2396392286705926,Neutral,0.7905405581843895,Neutral +A22H,-0.3872766625738478,Damaging,-0.2938196604587407,Damaging +N41V,-0.4193790411700899,Damaging,-0.994865351166023,Damaging +T2S,0.0739089459286583,Neutral,-0.2779951359078824,Damaging +H14P,-0.2140586217501936,Neutral,-0.4768551501441169,Damaging +S49V,-0.3454096969634498,Damaging,0.5565686731350925,Neutral +D14G,-0.3354905139394618,Damaging,0.659091680630824,Neutral +L18F,0.1813318611928225,Neutral,0.91369580695709,Neutral +C38K,0.2383180868944767,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv new file mode 100644 index 0000000..72394eb --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/DeMaSk/metrics.csv @@ -0,0 +1,2 @@ +sensitivity,specificity,accuracy,precision,F1 score 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv new file mode 100644 index 0000000..d1ad506 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/confusion_matrix_data.csv @@ -0,0 +1,33 @@ +Mutation,GEMME Score,GEMME classification,"Experimental data (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))" +I14P,-4.6959095698817945,Damaging,-0.5485085786261057,Damaging +T27C,0.9461846974284502,Neutral,-0.8803614167413731,Damaging +E6N,-3.141806966360965,Damaging,-0.7356710431721634,Damaging +H50M,0.8560932142605653,Neutral,-0.998593243402809,Damaging +P44H,-4.986566986228106,Damaging,0.3767558319512597,Neutral +Y44F,-0.2023682565158941,Neutral,-0.0501824586466818,Neutral +K20D,-4.528905844781005,Damaging,0.6371370383946783,Neutral +C45G,1.6595875787614562,Neutral,0.6393425266852282,Neutral +A41V,-4.876314012494955,Damaging,-0.3283089355278537,Damaging +E10M,1.1474094601164295,Neutral,-0.7370379461789627,Damaging +Y20H,-3.965052306717274,Damaging,-0.9989914381849928,Damaging +L1A,2.153271501206184,Neutral,-0.1979900946385598,Damaging +H3G,-4.69821421785013,Damaging,-0.0598036353722254,Neutral +D37P,1.237884481755286,Neutral,0.36664692422511,Neutral +F48L,-3.876805130951463,Damaging,0.3173533213673072,Neutral +M47K,-0.8230034568152051,Neutral,0.7463088706999101,Neutral +A28Q,-4.754677928808771,Damaging,-0.3221317079095906,Damaging +A32N,0.6357300840986171,Neutral,-0.4212454418294219,Damaging +E39W,-4.883273998489387,Damaging,-0.5353579982689727,Damaging +I41S,-0.5619626372673805,Neutral,-0.6912392907322666,Damaging +P19I,-3.4106096833519564,Damaging,0.9799280219318778,Neutral +R32Y,0.6872347557663745,Neutral,0.658046432593992,Neutral +M14Y,-3.4575855507813937,Damaging,0.9915797469195372,Neutral +K13W,-1.081310512778089,Neutral,0.7905405581843895,Neutral +A22H,-4.095397891142913,Damaging,-0.2938196604587407,Damaging +N41V,-2.7674185937144364,Neutral,-0.994865351166023,Damaging +T2S,-3.489098671741628,Damaging,-0.2779951359078824,Damaging +H14P,0.5262383574443557,Neutral,-0.4768551501441169,Damaging +S49V,-4.034562362338098,Damaging,0.5565686731350925,Neutral +D14G,-2.6786180756788176,Neutral,0.659091680630824,Neutral +L18F,-3.450391375055921,Damaging,0.91369580695709,Neutral +C38K,0.9465927732772572,Neutral,0.4869402545147832,Neutral diff --git a/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/metrics.csv b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/metrics.csv new file mode 100644 index 0000000..72394eb --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/RaSP-FoldX_consensus_with_GEMME_local_comparison/priority/confusion_matrix/predictors_confusion_matrices_for_comparison/GEMME/metrics.csv @@ -0,0 +1,2 @@ +sensitivity,specificity,accuracy,precision,F1 score +0.5,0.5,0.5,0.5,0.5 diff --git a/tools/MAVISpBenchmark/test_classification_logic/readme.txt b/tools/MAVISpBenchmark/test_classification_logic/readme.txt new file mode 100644 index 0000000..0e60b30 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/readme.txt @@ -0,0 +1,2 @@ +The folder contains scripts for generating a test dataset (test-simple_mode.csv) that can be used to verify the classification logic defined in the config file. +Please update the config file with the desired classifications and then run: diff --git a/tools/MAVISpBenchmark/test_classification_logic/run.sh b/tools/MAVISpBenchmark/test_classification_logic/run.sh new file mode 100644 index 0000000..552961a --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/run.sh @@ -0,0 +1,3 @@ +module load python/3.10/modulefile +python generate_test.py +python ../MAVISpBenchmark.py -S -y config.yaml -sp diff --git a/tools/MAVISpBenchmark/test_classification_logic/test-simple_mode.csv b/tools/MAVISpBenchmark/test_classification_logic/test-simple_mode.csv new file mode 100644 index 0000000..339f2cf --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/test-simple_mode.csv @@ -0,0 +1,33 @@ +Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type +H26R,Damaging,Damaging,-0.9138424753955585,-0.30558404977582576,-3.6719067800750302,Damaging,20 +H20S,Damaging,Damaging,-0.2500427131763433,-0.4292542291432637,1.6202659115008067,Neutral,20 +W39N,Damaging,Damaging,-0.6408294657998488,-0.15843425153810586,-3.99380845769009,Damaging,20 +K1P,Damaging,Damaging,-0.538955782029624,-0.21400341416745436,-0.4287200074428097,Neutral,20 +M24Y,Damaging,Neutral,0.4116792395467811,-0.3758376257231001,-4.56224015075135,Damaging,20 +L33V,Damaging,Neutral,0.16666762566930657,-0.4997202124678864,2.2503515259841502,Neutral,20 +N50K,Damaging,Neutral,0.3559573388651833,0.16703414053234344,-3.3911718707106973,Damaging,20 +Y48Q,Damaging,Neutral,0.9776181075282564,0.040080831174836795,1.2418065477336415,Neutral,20 +M42W,Damaging,Damaging,-0.8772188325277104,-0.33837203254557346,-3.077516204531838,Damaging,20 +D35P,Damaging,Damaging,-0.3892253615558938,-0.28207469612409497,0.46708751277597793,Neutral,20 +I49E,Damaging,Damaging,-0.857796376661998,0.11407462223906512,-4.307322289709608,Damaging,20 +S11Q,Damaging,Damaging,-0.7051236980178488,0.2167040193663392,-0.8912208445772345,Neutral,20 +V40S,Damaging,Neutral,0.2579367322003576,-0.3345438260565904,-3.278915911066803,Damaging,20 +K38Y,Damaging,Neutral,0.6495790745993425,-0.26543461439504934,-2.1846933694253057,Neutral,20 +L42E,Damaging,Neutral,0.23275678391591184,-0.03285070023351866,-4.372983896738399,Damaging,20 +L42R,Damaging,Neutral,0.14570673834105638,-0.07354322874612496,0.6698198564620723,Neutral,20 +A21H,Neutral,Damaging,-0.45832299768225127,-0.28789176355150375,-4.4250443564134745,Damaging,20 +W10Y,Neutral,Damaging,-0.1719961873305197,-0.4537507271727793,2.4886422907077654,Neutral,20 +Q41V,Neutral,Damaging,-0.6559505908630578,0.08623960958153598,-4.620051597594035,Damaging,20 +M14L,Neutral,Damaging,-0.8802017348803544,0.15626831436530741,0.296936074035798,Neutral,20 +R34G,Neutral,Neutral,0.3145974015091395,-0.3478735940856562,-3.0722303776479287,Damaging,20 +F50Q,Neutral,Neutral,0.23414078040145034,-0.3264789012788487,2.1462849061099463,Neutral,20 +R7S,Neutral,Neutral,0.30233086361436545,0.12152255717540456,-3.764040040893436,Damaging,20 +F19M,Neutral,Neutral,0.27492131635199657,0.08566053919394567,-0.4895247961269975,Neutral,20 +V35L,Neutral,Damaging,-0.6830647491382567,-0.386228773423699,-4.47569078191841,Damaging,20 +P35T,Neutral,Damaging,-0.48396325194771306,-0.26168869473829326,-2.3709606213608065,Neutral,20 +D20G,Neutral,Damaging,-0.929668817975552,-0.13003162368587348,-4.7002175012449285,Damaging,20 +D34H,Neutral,Damaging,-0.8301211686962708,-0.21485535583941395,-1.9655069401147807,Neutral,20 +E27K,Neutral,Neutral,0.6123952815666374,-0.45685331292638365,-4.997414789242996,Damaging,20 +R41W,Neutral,Neutral,0.037028644382641446,-0.37329782811026957,0.5791618700720478,Neutral,20 +W29W,Neutral,Neutral,0.29022475121857394,-0.24757625956727172,-4.915581895590696,Damaging,20 +C33P,Neutral,Neutral,0.4921428354037565,0.0076676448203421566,2.4735720004343897,Neutral,20 From 4fb515be928fc86287088701df9243bf041dc4b1 Mon Sep 17 00:00:00 2001 From: Matteo Arnaudi Date: Tue, 20 Jan 2026 23:19:14 +0100 Subject: [PATCH 2/2] Update MAVISpBenchmark.py with mcc_normlaized, better visyualization data and analysis of concordant classification --- tools/MAVISpBenchmark/MAVISpBenchmark.py | 143 ++++++++++++++++++----- 1 file changed, 112 insertions(+), 31 deletions(-) diff --git a/tools/MAVISpBenchmark/MAVISpBenchmark.py b/tools/MAVISpBenchmark/MAVISpBenchmark.py index 6241e21..813fd4f 100644 --- a/tools/MAVISpBenchmark/MAVISpBenchmark.py +++ b/tools/MAVISpBenchmark/MAVISpBenchmark.py @@ -166,6 +166,13 @@ def metrics(array, else: mcc = "nan" + N_ref = GLOBAL_DATASET_SIZE + + if mcc != "nan" and dataset_size > 0 and N_ref > 0: + mcc_norm = round(mcc * np.sqrt(dataset_size / N_ref), 3) + else: + mcc_norm = "nan" + # Collect metrics metric = { "sensitivity": sensitivity, @@ -174,9 +181,11 @@ def metrics(array, "precision": precision, "F1 score": F1_score, "MCC": mcc, + "MCC_norm": mcc_norm, "dataset_size": dataset_size } + # Save to CSV protein_performance_metric = pd.DataFrame([metric]) protein_performance_metric.to_csv(f"{output_path}/metrics.csv", index=False) @@ -326,6 +335,10 @@ def plot_accessibility_kde(df, output_path : str Base path for saving the figure (PDF and PNG). """ + if "divergent" in output_path: + output_file_name = "divergent_classification_accessibility" + else: + output_file_name = "concordant_classification_accessibility" plt.figure(figsize=(12,6)) sn.kdeplot(df[col_name], fill=True, color="blue", alpha=0.5) plt.axvline(threshold, color="red", linestyle="--", label=f"Threshold = {threshold}") @@ -334,8 +347,8 @@ def plot_accessibility_kde(df, plt.title("Distribution of Side Chain Solvent Accessibility") plt.legend(loc='center left', bbox_to_anchor=(1, 0.5)) plt.tight_layout() - plt.savefig(f"{output_path}/divergent_classification_accessibility.png", dpi=300) - plt.savefig(f"{output_path}/divergent_classification_accessibility.pdf") + plt.savefig(f"{output_path}/{output_file_name}.png", dpi=300) + plt.savefig(f"{output_path}/{output_file_name}.pdf") plt.close() @@ -441,6 +454,12 @@ def plot_distribution_with_highlighted_mutations(df, data_column, mavisp_classif mutations_list: list of str A list of mutations (strings) to be highlighted in the plot. ''' + # Convert to numeric if possible + numeric_data = pd.to_numeric(df[data_column], errors="coerce") + + if numeric_data.isna().all(): + print(f"Skipping KDE plot for {data_column}: categorical data") + return fig, ax = plt.subplots(figsize=(12, 6)) # Create the distribution plot for all data sn.kdeplot(df[data_column],fill = True) @@ -515,18 +534,19 @@ def performance_histogram_plot(df, output_path, color_palette): output_path (str): The path where the plot should be saved. """ + plot_df = df.drop(columns=["dataset_size"], errors="ignore").copy() # Step 1: Ensure 'method' is the first column (reorder columns) - columns_order = ['method'] + [col for col in df.columns if col != 'method'] - df = df[columns_order] + columns_order = ['method'] + [col for col in plot_df.columns if col != 'method'] + plot_df = plot_df[columns_order] # Step 2: Ensure all metric columns are of float type - for col in df.columns[1:]: - df[col] = df[col].astype(float) + for col in plot_df.columns[1:]: + plot_df[col] = plot_df[col].astype(float) # Step 3: Define metrics and number of methods - metrics = df.columns[1:] + metrics = plot_df.columns[1:] num_metrics = len(metrics) - num_methods = len(df['method'].unique()) + num_methods = len(plot_df['method'].unique()) # Step 4: Create a color palette using seaborn palette = sn.color_palette(color_palette, num_methods) # 'Set2' palette, can be changed @@ -540,10 +560,10 @@ def performance_histogram_plot(df, output_path, color_palette): indices = np.arange(num_metrics) # Positions for each metric # Step 7: Plot the bars for each method side by side within each metric group - for i, method in enumerate(df['method']): + for i, method in enumerate(plot_df['method']): # Offset the positions of the bars for each method offset = i * bar_width - ax.bar(indices + offset, df.iloc[i, 1:], width=bar_width, label=method, color=color_map[method], alpha=0.7) + ax.bar(indices + offset, plot_df.iloc[i, 1:], width=bar_width, label=method, color=color_map[method], alpha=0.7) # Step 8: Set the x-axis labels and ticks ax.set_xticks(indices + bar_width * (num_methods - 1) / 2) @@ -823,12 +843,12 @@ def validate_yaml(config, input_flags): raise ValueError(f"Threshold in {comp['name']} weighted logic must be between 0 and 1.") # Check somma pesi = 1 (entro tolleranza numerica) - weight_sum = sum(weighted["weights"].values()) - if abs(weight_sum - 1.0) > 1e-6: - raise ValueError( - f"In '{comp['name']}' weighted logic, the sum of weights must be 1. " - f"Currently: {weight_sum}" - ) + # weight_sum = sum(weighted["weights"].values()) + #if abs(weight_sum - 1.0) > 1e-6: + #raise ValueError( + # f"In '{comp['name']}' weighted logic, the sum of weights must be 1. " + # f"Currently: {weight_sum}" + #) # --------------------------- # CSV columns validation # --------------------------- @@ -1122,21 +1142,73 @@ def run_full_analysis(df_confusion_matrix, config, args, selected_mode,remove_po experimental_thresholds = experimental_thresholds) divergent_classification_neutral = divergent_classification.loc[divergent_classification[comp_col] == "Neutral"] divergent_classification_damging = divergent_classification.loc[divergent_classification[comp_col] == "Damaging"] - for discordant_classification_df,output in zip([divergent_classification_neutral,divergent_classification_damging], - [divergent_classification_neutral_path,divergent_classification_damaging_path]): - if selected_mode == "simple": - accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type" - else: - accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type (average) [md]" - plot_accessibility_kde(discordant_classification_df, - accessibility_column, - 20, - output) - plot_residue_mutation_distribution(discordant_classification_df,"Mut_res","wt_res_position",output) - discordant_type = output.split("_")[-1] - discordant_classification_df.to_csv(f"{output}/discordant_classification_{discordant_type}.csv",index=False) - - + # ============================= + # Concordant classification + # ============================= + concordant_classification = df_confusion_matrix_plot.loc[ + df_confusion_matrix_plot[comp_col] == + df_confusion_matrix_plot[experiment_column_classification] + ].copy() + + concordant_path = f"{cm_path}/concordant_classification_analysis" + neutral_conc_path = f"{concordant_path}/concordant_neutral" + damaging_conc_path = f"{concordant_path}/concordant_damaging" + + os.makedirs(neutral_conc_path, exist_ok=True) + os.makedirs(damaging_conc_path, exist_ok=True) + + concordant_classification.to_csv( + f"{concordant_path}/concordant_classification.csv", index=False + ) + + concordant_neutral = concordant_classification.loc[ + concordant_classification[comp_col] == "Neutral" + ] + + concordant_damaging = concordant_classification.loc[ + concordant_classification[comp_col] == "Damaging" + ] + # ============================= + # Plot settings + # ============================= + if selected_mode == "simple": + accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type" + else: + accessibility_column = "Relative Side Chain Solvent Accessibility in wild-type (average) [md]" + # ============================= + # Plot ALL groups + # ============================= + plot_groups = [ + (divergent_classification_neutral, divergent_classification_neutral_path, "discordant_neutral"), + (divergent_classification_damging, divergent_classification_damaging_path, "discordant_damaging"), + (concordant_neutral, neutral_conc_path, "concordant_neutral"), + (concordant_damaging, damaging_conc_path, "concordant_damaging"), + ] + + for df_group, output_path, label in plot_groups: + + if df_group.empty: + print(f"⚠️ Skipping {label}: no data") + continue + + plot_accessibility_kde( + df_group, + accessibility_column, + 20, + output_path + ) + + plot_residue_mutation_distribution( + df_group, + "Mut_res", + "wt_res_position", + output_path + ) + + df_group.to_csv( + f"{output_path}/{label}.csv", + index=False + ) # save in csv format the data used for the confusion matrix df_confusion_matrix_data = df_confusion_matrix_plot[["Mutation",comp_col,experiment_column,experiment_column_classification]] df_confusion_matrix_data.to_csv(f"{cm_path}/confusion_matrix_data.csv",sep=",",index=False) @@ -1160,6 +1232,7 @@ def run_full_analysis(df_confusion_matrix, config, args, selected_mode,remove_po def main(): + global GLOBAL_DATASET_SIZE prot_pos_to_remove = [] if args.residues_to_exclude: position_to_remove = pd.read_csv(args.residues_to_exclude) @@ -1219,6 +1292,14 @@ def main(): # ---------------------- process input file --------------------------- # df_merged = process_input_files(config,mode) + exp_col_class = config["experimental_column_classification"] + df_filtered = df_merged.dropna(subset=[exp_col_class]) + df_filtered = df_filtered[df_filtered[exp_col_class].isin(['Damaging','Neutral'])] + + # ----------------------- + # Set global dataset size here + # ----------------------- + GLOBAL_DATASET_SIZE = len(df_filtered) # ------------------------ plots the result --------------------------- # run_full_analysis(df_merged,config,args,mode,prot_pos_to_remove,mutations_to_be_excluded)

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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/priority/scatter_plot_data.csv new file mode 100644 index 0000000..1267558 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/priority/scatter_plot_data.csv @@ -0,0 +1,33 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted +test,I14P,Damaging,Damaging,-0.5485085786261057,-0.3340722883498666,-4.6959095698817945,Damaging,20,P,I14,14,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,T27C,Damaging,Damaging,-0.8803614167413731,-0.4139538328824924,0.9461846974284502,Neutral,20,C,T27,27,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,E6N,Damaging,Damaging,-0.7356710431721634,-0.0769904108245136,-3.141806966360965,Damaging,20,N,E6,6,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,H50M,Damaging,Damaging,-0.998593243402809,-0.1588468841129663,0.8560932142605653,Neutral,20,M,H50,50,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,P44H,Damaging,Neutral,0.3767558319512597,-0.4658575818770757,-4.986566986228106,Damaging,20,H,P44,44,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,Y44F,Damaging,Neutral,-0.0501824586466818,-0.3785292512407085,-0.2023682565158941,Neutral,20,F,Y44,44,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging +test,K20D,Damaging,Neutral,0.6371370383946783,0.1510999845000993,-4.528905844781005,Damaging,20,D,K20,20,Damaging,Neutral,Damaging,Damaging,Damaging,Damaging +test,C45G,Damaging,Neutral,0.6393425266852282,-0.1509539613007354,1.6595875787614562,Neutral,20,G,C45,45,Neutral,Neutral,Damaging,Neutral,Damaging,Neutral +test,A41V,Damaging,Damaging,-0.3283089355278537,-0.2803002435666951,-4.876314012494955,Damaging,20,V,A41,41,Damaging,Damaging,Damaging,Damaging,Damaging,Damaging +test,E10M,Damaging,Damaging,-0.7370379461789627,-0.3214186934116215,1.1474094601164295,Neutral,20,M,E10,10,Neutral,Damaging,Damaging,Damaging,Damaging,Damaging 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b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/voting/scatter_plot_data.csv new file mode 100644 index 0000000..1267558 --- /dev/null +++ b/tools/MAVISpBenchmark/test_classification_logic/output/simple/GEMME_comparison/scatter_plots/RaSP-FoldX_consensus_with_DeMaSK_local/voting/scatter_plot_data.csv @@ -0,0 +1,33 @@ +protein,Mutation,"Stability classification, alphafold, (RaSP, FoldX)","Experimental data classification (DHFR-PCA yeast, Stability (MAVEdb))","Experimental data (DHFR-PCA yeast, Stability (MAVEdb))",DeMaSk delta fitness,GEMME Score,Local Int. classification (PMS2_AFmulti),Relative Side Chain Solvent Accessibility in wild-type,Mut_res,wt_res_position,Position,GEMME classification,DeMaSk classification,RaSP-FoldX_consensus_with_GEMME_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_voting,RaSP-FoldX_consensus_with_DeMaSK_local_priority,RaSP-FoldX_consensus_with_DeMaSK_local_weighted 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