From 84c8aeb97bc331bf2f5ca8dd3bcefac79ca2dee4 Mon Sep 17 00:00:00 2001 From: Eleni Kiahaki Date: Mon, 18 May 2026 13:16:35 +0200 Subject: [PATCH 1/5] updated docs and added method in core.py --- cancermuts/core.py | 30 +- cancermuts/datasources.py | 29 +- docs/metatable.csv | 256 +-- docs/metatable_non_canonical.csv | 2639 +++++++++++++------------ docs/metatable_pancancer.csv | 290 +-- docs/my_table.pdf | Bin 25695 -> 26164 bytes docs/my_table_pancancer.pdf | Bin 28448 -> 29005 bytes docs/tutorial.md | 170 +- docs/tutorial.py | 65 +- docs/tutorial_alternative_isoforms.py | 70 +- docs/tutorial_pancancer.py | 56 +- 11 files changed, 1815 insertions(+), 1790 deletions(-) diff --git a/cancermuts/core.py b/cancermuts/core.py index 12f8c4dc..c404a7bb 100644 --- a/cancermuts/core.py +++ b/cancermuts/core.py @@ -185,6 +185,32 @@ def add_variant(self, var): existing.metadata[k] = var.metadata[k] self.log.debug(" metadata %s was added anew" % k) + def variants_at_position(self, position, variant_types=None): + + if position not in self.sequence_numbering: + raise ValueError(f"Position {position} is outside sequence bounds: 1-{len(self.sequence)}") + if variant_types is None: + variant_types = ProteinVariant.VARIANT_TYPES + elif isinstance(variant_types, str): + variant_types = {variant_types} + else: + variant_types = set(variant_types) + + invalid_variant_types = variant_types - ProteinVariant.VARIANT_TYPES + if invalid_variant_types: + raise ValueError(f"Invalid variant type(s): {invalid_variant_types}") + matching_variants = [] + for variant in self.variants: + if variant.variant_type not in variant_types: + continue + if variant.variant_type == "insertion": + if position in {variant.start, variant.start + 1}: + matching_variants.append(variant) + elif variant.start <= position <= variant.end: + matching_variants.append(variant) + return matching_variants + + def properties_at_position(self, position, property_name=None): """ If property_name is provided, return a dict of properties mapped @@ -228,7 +254,7 @@ class ProteinVariant(object): metadata : :obj:`dict` Dictionary encoding variant-associated metadata. """ - + VARIANT_TYPES = {"missense", "deletion", "insertion", "delins"} @logger_init def __init__(self, start, end, ref, alt, sources=None, metadata=None): """Constructor for the ProteinVariant class. @@ -432,7 +458,7 @@ def get_variant_table(self, variant_types=None, metadata=[], metadata_formatter= variant_types = {variant_types} else: variant_types = set(variant_types) - invalid_var_types = variant_types - {"missense", "delins", "insertion", "deletion"} + invalid_var_types = variant_types - ProteinVariant.VARIANT_TYPES if invalid_var_types: raise ValueError(f"Invalid variant type(s): {invalid_var_types}") variants = [v for v in variants if v.variant_type in variant_types] diff --git a/cancermuts/datasources.py b/cancermuts/datasources.py index 3839f105..c02d7554 100644 --- a/cancermuts/datasources.py +++ b/cancermuts/datasources.py @@ -2117,9 +2117,11 @@ def _parse_db_file(self, sequence): return sorted(sites, key=lambda x: int(x[1:])) - def add_position_properties(self, sequence, properties=None): + def add_sequence_properties(self, sequence, properties=None): if properties is None: properties = ["phosphorylation"] + elif isinstance(properties, str): + properties = [properties] if "phosphorylation" not in properties: return @@ -2133,24 +2135,27 @@ def add_position_properties(self, sequence, properties=None): try: site_seq_idx = sequence.seq2index(site) - position = sequence.positions[site_seq_idx] except Exception: self.log.warning(f"NetPhos site {site_label} is outside the protein sequence; it will be skipped") continue - if position.wt_residue_type != wt: + if sequence.sequence[site_seq_idx] != wt: self.log.warning(f"for NetPhos site {site_label}, residue {wt} is " - f"{position.wt_residue_type} in wild-type sequence; it will be skipped") + f"{sequence.sequence[site_seq_idx]} in wild-type sequence; it will be skipped") continue - if prop_name in position.properties: - prop = position.properties[prop_name] - if self not in prop.sources: - prop.sources.append(self) - self.log.info(f"site {site_label} already annotated as phosphorylation; source will be added") - else: - prop = position_properties_classes[prop_name](sources=[self], position=position) - position.add_property(prop) + already_annotated = False + if prop_name in sequence.properties: + for prop in sequence.properties[prop_name]: + if prop.positions == [site]: + if self not in prop.sources: + prop.sources.append(self) + self.log.info(f"site {site_label} already annotated as phosphorylation; source will be added") + already_annotated = True + + if not already_annotated: + prop = sequence_properties_classes[prop_name](sources=[self], positions=[site]) + sequence.add_property(prop) self.log.info(f"adding {site_label} to site {prop.name}") class GlyGen(StaticSource, object): diff --git a/docs/metatable.csv b/docs/metatable.csv index 556e9372..2f62387a 100644 --- a/docs/metatable.csv +++ b/docs/metatable.csv @@ -1,128 +1,128 @@ -,aa_position,ref_aa,alt_aa,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,ptm_sources,linear_motif,structure,sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status -0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1,2,P,R,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87426038-87426038, hg38,16:87392432-87392432","hg19,16:g.87426038C>G, hg38,16:g.87392432C>G",0.145,,,0.0000000000000000,,,,2358122,Uncertain significance,not specified,1,,,,,, -2,3,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -3,4,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -4,5,K,,,,Ubq,,,,,,,,PhosphoSite,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -5,6,T,,P,,,,,,,,,,"NetPhos,PhosphoSite,dbPTM","PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -6,7,F,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -7,8,K,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -8,9,Q,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -9,10,R,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -10,11,R,L,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,ClinVar,,,"hg19,16:87426065-87426065, hg38,16:87392459-87392459","hg19,16:g.87426065G>T, hg38,16:g.87392459G>T",0.226,,,0.0000000000000000,,,,2226367,Uncertain significance,not specified,1,,,,,, -11,12,T,,P,,,,,,,,,,"NetPhos,PhosphoSite","NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -12,13,F,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -13,14,E,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -14,15,Q,R,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,,,3542641,Uncertain significance,not specified,1,,,,,, -15,16,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -16,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -17,18,E,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -18,19,D,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -19,20,V,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,21,R,,,Me,,,,,,,,,PhosphoSite,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -21,22,L,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,23,I,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -23,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -24,25,E,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,,,781343,Benign,not provided,1,,,,,, -25,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -26,27,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -27,28,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -28,29,T,I,P,,,,,,,,,,"PhosphoSite,dbPTM",,,ClinVar,,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,,,2493543,Uncertain significance,not specified,1,,,,,, -29,29,T,N,P,,,,,,,,,,"PhosphoSite,dbPTM",,,ClinVar,,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,,,4051121,Uncertain significance,not specified,1,,,,,, -30,30,K,,,,Ubq,,,Ac,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,,,,, -31,31,I,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -32,32,P,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -33,33,V,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -34,34,I,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -35,35,I,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -36,36,E,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -37,37,R,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -38,38,Y,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -39,39,K,R,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,cBioPortal,coadread_tcga_pan_can_atlas_2018,Colorectal Adenocarcinoma,"hg19,16:87435800-87435800","hg19,16:g.87435800A>G",0.065,,,,,,,,,,,,,,,, -40,40,G,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -41,41,E,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -42,42,K,,,,Ubq,,,,,,,,PhosphoSite,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -43,43,Q,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -44,44,L,F,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,ClinVar,,,"hg19,16:87435814-87435814, hg38,16:87402208-87402208","hg19,16:g.87435814C>T, hg38,16:g.87402208C>T",0.359,,,,,,,2298840,Uncertain significance,not specified,1,,,,,, -45,44,L,P,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,ClinVar,,,"hg19,16:87435815-87435815, hg38,16:87402209-87402209","hg19,16:g.87435815T>C, hg38,16:g.87402209T>C",0.632,,,,,,,2298841,Uncertain significance,not specified,1,,,,,, -46,45,P,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -47,46,V,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -48,47,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -49,48,D,,,,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -50,49,K,,,,Ubq,,,Ac,,,,,PhosphoSite,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -51,50,T,R,P,,,,,,,,,,PhosphoSite,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,ClinVar,,,"hg19,16:87435833-87435833, hg38,16:87402227-87402227","hg19,16:g.87435833C>G, hg38,16:g.87402227C>G",0.415,,,0.0000039767440011,,,,3870023,Uncertain significance,not specified,1,,,,,, -52,51,K,,,,Ubq,,,Ac,,,,,"PhosphoSite,dbPTM","FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -53,52,F,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -54,53,L,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -55,54,V,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -56,55,P,L,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,ClinVar,,,"hg19,16:87435848-87435848, hg38,16:87402242-87402242","hg19,16:g.87435848C>T, hg38,16:g.87402242C>T",0.673,,,,,,,4549291,Uncertain significance,not specified,1,,,,,, -57,56,D,G,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,ClinVar,,,"hg19,16:87435851-87435851, hg38,16:87402245-87402245","hg19,16:g.87435851A>G, hg38,16:g.87402245A>G",0.408,,,,,,,2291996,Uncertain significance,not specified,1,,,,,, -58,57,H,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, -59,58,V,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, -60,59,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -61,60,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -62,61,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -63,62,E,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -64,63,L,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -65,64,I,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -66,65,K,E,,,Ubq,,,,,,,,"PhosphoSite,dbPTM","MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,COSMIC",coadread_genentech,Colorectal Adenocarcinoma,"hg19,16:87435877-87435877, hg38,16:87402271-87402271","hg19,16:g.87435877A>G, hg38,16:g.87402271A>G",0.314,"large_intestine, colon","carcinoma, adenocarcinoma",0.0000278640235650,,,,,,,,,,,,, -67,66,I,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -68,67,I,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -69,68,R,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -70,69,R,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -71,70,R,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -72,71,L,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -73,72,Q,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -74,73,L,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -75,74,N,S,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,ClinVar,,,"hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,,,4103060,Uncertain significance,not specified,1,,,,,, -76,75,A,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -77,76,N,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -78,77,Q,R,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,ClinVar,,,"hg19,16:87436555-87436555, hg38,16:87402949-87402949","hg19,16:g.87436555A>G, hg38,16:g.87402949A>G",0.403,,,,,,,3292933,Uncertain significance,not specified,1,,,,,, -79,78,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -80,79,F,L,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436562-87436562, hg38,16:87402956-87402956","hg19,16:g.87436562C>A, hg38,16:g.87402956C>A",0.291,,,,0.0000318430773150,,,3542642,Uncertain significance,not specified,1,,,,,, -81,80,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -82,81,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -83,82,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -84,83,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -85,84,N,K,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436577-87436577, hg38,16:87402971-87402971","hg19,16:g.87436577C>A, hg38,16:g.87402971C>A",0.290,,,0.0000079612763518,0.0000318390219052,,,3542644,Uncertain significance,not specified,1,,,,,, -86,85,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -87,86,H,D,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436581-87436581, hg38,16:87402975-87402975","hg19,16:g.87436581C>G, hg38,16:g.87402975C>G",0.241,,,0.0000278613618634,0.0000318430773150,,,2553606,Uncertain significance,not specified,1,,,,,, -88,87,S,,,,,,,,,,,,,"SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -89,88,M,T,,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,ClinVar,,,"hg19,16:87436588-87436588, hg38,16:87402982-87402982","hg19,16:g.87436588T>C, hg38,16:g.87402982T>C",0.502,,,,,,,3870024,Uncertain significance,not specified,1,,,,,, -90,89,V,,,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -91,90,S,,,,,,,,,,,,,"WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -92,91,V,I,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,ClinVar,,,"hg19,16:87436596-87436596, hg38,16:87402990-87402990","hg19,16:g.87436596G>A, hg38,16:g.87402990G>A",0.172,,,0.0000875329243159,0.0000636942675159,,,2406999,Uncertain significance,not specified,1,,,,,, -93,92,S,C,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,ClinVar,,,"hg19,16:87436600-87436600, hg38,16:87402994-87402994","hg19,16:g.87436600C>G, hg38,16:g.87402994C>G",0.275,,,0.0000079569687132,,,,4103061,Uncertain significance,not specified,1,,,,,, -94,93,T,,P,,,,,,,,,,NetPhos,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -95,94,P,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM",,,,,,,,,,,,,,,,,,,,,,, -96,95,I,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM",,,,,,,,,,,,,,,,,,,,,,, -97,96,S,,P,,,,,,,,,,NetPhos,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM",,,,,,,,,,,,,,,,,,,,,,, -98,97,E,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM",,,,,,,,,,,,,,,,,,,,,,, -99,98,V,L,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436617-87436617, hg38,16:87403011-87403011","hg19,16:g.87436617G>T, hg38,16:g.87403011G>T",0.047,,,0.0000039774399605,,,,3542643,Uncertain significance,not specified,1,,,,,, -100,99,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -101,100,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -102,101,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -103,102,E,K,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436629-87436629, hg38,16:87403023-87403023","hg19,16:g.87436629G>A, hg38,16:g.87403023G>A",0.315,,,,,,,3122723,Uncertain significance,not specified,1,,,,,, -104,103,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -105,104,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -106,105,E,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -107,106,D,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -108,107,G,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -109,108,F,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -110,109,L,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -111,110,Y,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -112,111,M,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -113,112,V,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -114,113,Y,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, -115,114,A,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, -116,115,S,,P,,,,,,,,,,NetPhos,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, -117,116,Q,,,,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, -118,117,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -119,118,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -120,119,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -121,120,G,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -122,121,M,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -123,122,K,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -124,123,L,S,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,cBioPortal,coadread_dfci_2016,Colorectal Adenocarcinoma,"hg19,16:87436693-87436693","hg19,16:g.87436693T>C",0.044,,,,,,,,,,,,,,,, -125,124,S,,P,,,,,,,,,,NetPhos,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -126,125,V,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +,aa_position,ref_aa,alt_aa,variant_hgvs,variant_start,variant_end,variant_type,sources,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,linear_motif,structure,ptm_sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status +0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1,2,P,R,p.Pro2Arg,2.0,2.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87426038-87426038, hg38,16:87392432-87392432","hg19,16:g.87426038C>G, hg38,16:g.87392432C>G",0.145,,,0.0000000000000000,,0.0000000000000000,,2358122,Uncertain significance,not specified,1,,,,,, +2,3,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +3,4,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +4,5,K,,,,,,,,,Ubq,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +5,6,T,,,,,,,P,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,"NetPhos,PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +6,7,F,,,,,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, +7,8,K,,,,,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, +8,9,Q,,,,,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, +9,10,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +10,11,R,L,p.Arg11Leu,11.0,11.0,missense,ClinVar,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,"hg19,16:87426065-87426065, hg38,16:87392459-87392459","hg19,16:g.87426065G>T, hg38,16:g.87392459G>T",0.226,,,0.0000000000000000,,0.0000000000000000,,2226367,Uncertain significance,not specified,1,,,,,, +11,12,T,,,,,,,P,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,"NetPhos,PhosphoSite",,,,,,,,,,,,,,,,,,,,, +12,13,F,,,,,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +13,14,E,,,,,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +14,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,0.0000175821084464,,3542641,Uncertain significance,not specified,1,,,,,, +15,16,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +16,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +17,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +18,19,D,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +19,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,21,R,,,,,,,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +21,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,23,I,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +23,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +24,25,E,Q,p.Glu25Gln,25.0,25.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,0.0110493838012693,0.0119310076514071,781343,Benign,not provided,1,,,,,, +25,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +26,27,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +27,28,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +28,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,0.0001230314960630,,2493543,Uncertain significance,not specified,1,,,,,, +29,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,0.0003805588778950,0.0012820512820513,4051121,Uncertain significance,not specified,1,,,,,, +30,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +31,31,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +32,32,P,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +33,33,V,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +34,34,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +35,35,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +36,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +37,37,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +38,38,Y,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +39,39,K,R,p.Lys39Arg,39.0,39.0,missense,cBioPortal,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,coadread_tcga_pan_can_atlas_2018,Colorectal Adenocarcinoma,"hg19,16:87435800-87435800","hg19,16:g.87435800A>G",0.065,,,,,,,,,,,,,,,, +40,40,G,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +41,41,E,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +42,42,K,,,,,,,,,Ubq,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +43,43,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +44,44,L,F,p.Leu44Phe,44.0,44.0,missense,ClinVar,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,"hg19,16:87435814-87435814, hg38,16:87402208-87402208","hg19,16:g.87435814C>T, hg38,16:g.87402208C>T",0.359,,,,,,,2298840,Uncertain significance,not specified,1,,,,,, +45,44,L,P,p.Leu44Pro,44.0,44.0,missense,ClinVar,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,"hg19,16:87435815-87435815, hg38,16:87402209-87402209","hg19,16:g.87435815T>C, hg38,16:g.87402209T>C",0.632,,,,,,,2298841,Uncertain significance,not specified,1,,,,,, +46,45,P,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +47,46,V,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +48,47,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +49,48,D,,,,,,,,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +50,49,K,,,,,,,,,Ubq,,,Ac,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +51,50,T,R,p.Thr50Arg,50.0,50.0,missense,ClinVar,P,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,PhosphoSite,,,"hg19,16:87435833-87435833, hg38,16:87402227-87402227","hg19,16:g.87435833C>G, hg38,16:g.87402227C>G",0.415,,,0.0000039767440011,,0.0000087908996607,,3870023,Uncertain significance,not specified,1,,,,,, +52,51,K,,,,,,,,,Ubq,,,Ac,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +53,52,F,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +54,53,L,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +55,54,V,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +56,55,P,L,p.Pro55Leu,55.0,55.0,missense,ClinVar,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,"hg19,16:87435848-87435848, hg38,16:87402242-87402242","hg19,16:g.87435848C>T, hg38,16:g.87402242C>T",0.673,,,,,,,4549291,Uncertain significance,not specified,1,,,,,, +57,56,D,G,p.Asp56Gly,56.0,56.0,missense,ClinVar,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,"hg19,16:87435851-87435851, hg38,16:87402245-87402245","hg19,16:g.87435851A>G, hg38,16:g.87402245A>G",0.408,,,,,,,2291996,Uncertain significance,not specified,1,,,,,, +58,57,H,,,,,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, +59,58,V,,,,,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, +60,59,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +61,60,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +62,61,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +63,62,E,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +64,63,L,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +65,64,I,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +66,65,K,E,p.Lys65Glu,65.0,65.0,missense,"COSMIC,cBioPortal",,,Ubq,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"PhosphoSite,dbPTM",coadread_genentech,Colorectal Adenocarcinoma,"hg19,16:87435877-87435877, hg38,16:87402271-87402271","hg19,16:g.87435877A>G, hg38,16:g.87402271A>G",0.314,"large_intestine, colon","carcinoma, adenocarcinoma",0.0000278640235650,,0.0001740543049431,,,,,,,,,,, +67,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +68,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +69,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +70,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +71,70,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +72,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +73,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +74,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +75,74,N,S,p.Asn74Ser,74.0,74.0,missense,ClinVar,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,"hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,0.0003594066522904,0.0000648088139987,4103060,Uncertain significance,not specified,1,,,,,, +76,75,A,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +77,76,N,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +78,77,Q,R,p.Gln77Arg,77.0,77.0,missense,ClinVar,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,"hg19,16:87436555-87436555, hg38,16:87402949-87402949","hg19,16:g.87436555A>G, hg38,16:g.87402949A>G",0.403,,,,,,,3292933,Uncertain significance,not specified,1,,,,,, +79,78,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +80,79,F,L,p.Phe79Leu,79.0,79.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436562-87436562, hg38,16:87402956-87402956","hg19,16:g.87436562C>A, hg38,16:g.87402956C>A",0.291,,,,0.0000318430773150,,0.0000648256190847,3542642,Uncertain significance,not specified,1,,,,,, +81,80,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +82,81,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +83,82,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +84,83,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +85,84,N,K,p.Asn84Lys,84.0,84.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436577-87436577, hg38,16:87402971-87402971","hg19,16:g.87436577C>A, hg38,16:g.87402971C>A",0.290,,,0.0000079612763518,0.0000318390219052,0.0000176167993799,0.0011792452830189,3542644,Uncertain significance,not specified,1,,,,,, +86,85,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +87,86,H,D,p.His86Asp,86.0,86.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436581-87436581, hg38,16:87402975-87402975","hg19,16:g.87436581C>G, hg38,16:g.87402975C>G",0.241,,,0.0000278613618634,0.0000318430773150,0.0003806002609830,0.0006410256410256,2553606,Uncertain significance,not specified,1,,,,,, +88,87,S,,,,,,,,,,,,,,,,,"SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, +89,88,M,T,p.Met88Thr,88.0,88.0,missense,ClinVar,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436588-87436588, hg38,16:87402982-87402982","hg19,16:g.87436588T>C, hg38,16:g.87402982T>C",0.502,,,,,,,3870024,Uncertain significance,not specified,1,,,,,, +90,89,V,,,,,,,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, +91,90,S,,,,,,,,,,,,,,,,,"WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, +92,91,V,I,p.Val91Ile,91.0,91.0,missense,ClinVar,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436596-87436596, hg38,16:87402990-87402990","hg19,16:g.87436596G>A, hg38,16:g.87402990G>A",0.172,,,0.0000875329243159,0.0000636942675159,0.0001496189118305,0.0001148105625718,2406999,Uncertain significance,not specified,1,,,,,, +93,92,S,C,p.Ser92Cys,92.0,92.0,missense,ClinVar,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436600-87436600, hg38,16:87402994-87402994","hg19,16:g.87436600C>G, hg38,16:g.87402994C>G",0.275,,,0.0000079569687132,,0.0000176000563202,,4103061,Uncertain significance,not specified,1,,,,,, +94,93,T,,,,,,,P,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +95,94,P,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM",,,,,,,,,,,,,,,,,,,,,,, +96,95,I,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM",,,,,,,,,,,,,,,,,,,,,,, +97,96,S,,,,,,,P,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +98,97,E,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM",,,,,,,,,,,,,,,,,,,,,,, +99,98,V,L,p.Val98Leu,98.0,98.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436617-87436617, hg38,16:87403011-87403011","hg19,16:g.87436617G>T, hg38,16:g.87403011G>T",0.047,,,0.0000039774399605,,0.0000087947653557,,3542643,Uncertain significance,not specified,1,,,,,, +100,99,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +101,100,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +102,101,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +103,102,E,K,p.Glu102Lys,102.0,102.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436629-87436629, hg38,16:87403023-87403023","hg19,16:g.87436629G>A, hg38,16:g.87403023G>A",0.315,,,,,,,3122723,Uncertain significance,not specified,1,,,,,, +104,103,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +105,104,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +106,105,E,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +107,106,D,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +108,107,G,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +109,108,F,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +110,109,L,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +111,110,Y,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +112,111,M,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +113,112,V,I,p.Val112Ile,112.0,112.0,missense,ClinVar,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,"hg19,16:87436659-87436659, hg38,16:87403053-87403053","hg19,16:g.87436659G>A, hg38,16:g.87403053G>A",0.193,,,,,,,4837135,Uncertain significance,not specified,1,,,,,, +114,113,Y,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, +115,114,A,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, +116,115,S,,,,,,,P,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +117,116,Q,,,,,,,,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, +118,117,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +119,118,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +120,119,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +121,120,G,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +122,121,M,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +123,122,K,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +124,123,L,S,p.Leu123Ser,123.0,123.0,missense,cBioPortal,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,coadread_dfci_2016,Colorectal Adenocarcinoma,"hg19,16:87436693-87436693","hg19,16:g.87436693T>C",0.044,,,,,,,,,,,,,,,, +125,124,S,,,,,,,P,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +126,125,V,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, diff --git a/docs/metatable_non_canonical.csv b/docs/metatable_non_canonical.csv index 7fd812ea..efc79b9a 100644 --- a/docs/metatable_non_canonical.csv +++ b/docs/metatable_non_canonical.csv @@ -1,1319 +1,1320 @@ -,aa_position,ref_aa,alt_aa,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,ptm_sources,linear_motif,structure,sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status -0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1,2,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -2,3,V,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548373-46548373","hg38,11:g.46548373A>T",0.373,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -3,3,V,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548374-46548374","hg38,11:g.46548374C>G",0.261,"eye, uveal_tract","malignant_melanoma, spindle, B",,,,,,,,,,,,,, -4,4,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -5,5,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548367-46548367","hg38,11:g.46548367G>A",0.414,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -6,6,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548365-46548365","hg38,11:g.46548365C>T",0.340,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -7,7,K,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569912-46569912, hg38,11:46548362-46548362","hg19,11:g.46569912T>G, hg38,11:g.46548362T>G",0.392,,,,,,,4090636,Uncertain significance,not specified,1,,,,,, -8,8,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -9,9,A,T,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548356-46548356","hg38,11:g.46548356C>T",0.250,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -10,10,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -11,11,R,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569899-46569899, hg38,11:46548349-46548349","hg19,11:g.46569899C>T, hg38,11:g.46548349C>T",0.373,,,,,,,2298372,Uncertain significance,not specified,1,,,,,, -12,11,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548350-46548350","hg38,11:g.46548350G>A",0.619,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -13,12,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -14,13,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -15,14,W,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548339-46548339","hg38,11:g.46548339C>A",0.441,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -16,15,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -17,16,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548334-46548334","hg38,11:g.46548334C>T",0.568,stomach,carcinoma,,,,,,,,,,,,,, -18,17,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -19,18,R,Q,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46569878-46569878, hg38,11:46548328-46548328","hg19,11:g.46569878C>T, hg38,11:g.46548328C>T",0.286,stomach,"carcinoma, adenocarcinoma",,,,,3860390,Uncertain significance,not specified,1,,,,,, -20,18,R,W,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46569879-46569879, hg38,11:46548329-46548329","hg19,11:g.46569879G>A, hg38,11:g.46548329G>A",0.516,endometrium,"carcinoma, endometrioid_carcinoma",,,,,3534690,Uncertain significance,not specified,1,,,,,, -21,19,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -22,20,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -23,21,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -24,22,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -25,23,M,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569864-46569864, hg38,11:46548314-46548314","hg19,11:g.46569864T>C, hg38,11:g.46548314T>C",0.032,,,,,,,2558800,Uncertain significance,not specified,1,,,,,, -26,24,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -27,25,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -28,26,Q,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548304-46548304","hg38,11:g.46548304T>C",0.434,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -29,27,R,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569851-46569851, hg38,11:46548301-46548301","hg19,11:g.46569851C>T, hg38,11:g.46548301C>T",0.391,,,,,,,2345873,Uncertain significance,not specified,1,,,,,, -30,27,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548302-46548302","hg38,11:g.46548302G>A",0.625,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -31,28,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -32,29,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -33,30,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -34,31,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -35,32,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -36,33,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -37,34,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548279-46548279","hg38,11:g.46548279T>A",0.438,prostate,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -38,35,D,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548278-46548278","hg38,11:g.46548278C>G",0.509,cervix,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -39,36,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -40,37,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -41,38,R,Q,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46569818-46569818, hg38,11:46548268-46548268","hg19,11:g.46569818C>T, hg38,11:g.46548268C>T",0.386,endometrium,"carcinoma, endometrioid_carcinoma",,,,,4046062,Uncertain significance,not specified,1,,,,,, -42,38,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548269-46548269","hg38,11:g.46548269G>A",0.465,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -43,39,W,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548264-46548264","hg38,11:g.46548264C>A",0.419,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, Hodgkin_lymphoma, nodular_sclerosing",,,,,,,,,,,,,, -44,40,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -45,41,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -46,42,W,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569805-46569805, hg38,11:46548255-46548255","hg19,11:g.46569805C>A, hg38,11:g.46548255C>A",0.464,,,,,,,4371838,,,,,,,,, -47,43,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -48,44,G,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548250-46548250","hg38,11:g.46548250C>T",0.453,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -49,45,K,E,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46569798-46569798, hg38,11:46548248-46548248","hg19,11:g.46569798T>C, hg38,11:g.46548248T>C",0.310,,,,,,,3534725,Uncertain significance,not specified,1,,,,,, -50,45,K,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46548246-46548246","hg38,11:g.46548246C>A",0.171,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -51,46,R,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547874-46547874","hg38,11:g.46547874C>T",0.122,lung,"carcinoma, non_small_cell_carcinoma",,,,,,,,,,,,,, -52,47,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -53,48,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -54,49,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -55,50,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -56,51,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547860-46547860","hg38,11:g.46547860C>T",0.277,"skin, ear",malignant_melanoma,,,,,,,,,,,,,, -57,52,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -58,53,P,A,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547854-46547854","hg38,11:g.46547854G>C",0.433,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -59,54,R,C,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46569401-46569401, hg38,11:46547851-46547851","hg19,11:g.46569401G>A, hg38,11:g.46547851G>A",0.607,"urinary_tract, bladder",carcinoma,,,,,4640162,Uncertain significance,not specified,1,,,,,, -60,54,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547850-46547850","hg38,11:g.46547850C>T",0.542,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -61,55,S,Y,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46547847-46547847","hg38,11:g.46547847G>T",0.575,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, -62,56,T,A,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547845-46547845","hg38,11:g.46547845T>C",0.516,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -63,57,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -64,58,L,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547839-46547839","hg38,11:g.46547839A>C",0.255,pleura,"mesothelioma, epithelial",,,,,,,,,,,,,, -65,59,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -66,60,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -67,61,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -68,62,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -69,63,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547823-46547823","hg38,11:g.46547823G>A",0.587,"biliary_tract, gallbladder","carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -70,63,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547824-46547824","hg38,11:g.46547824G>A",0.553,skin,malignant_melanoma,,,,,,,,,,,,,, -71,64,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -72,65,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -73,66,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -74,67,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -75,68,L,F,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46568837-46568837, hg38,11:46547287-46547287","hg19,11:g.46568837T>G, hg38,11:g.46547287T>G",0.198,,,,,,,4090675,Uncertain significance,not specified,1,,,,,, -76,69,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -77,70,S,C,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46547282-46547282","hg38,11:g.46547282G>C",0.710,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -78,70,S,T,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46568833-46568833, hg38,11:46547283-46547283","hg19,11:g.46568833A>T, hg38,11:g.46547283A>T",0.286,,,,,,,4640153,Uncertain significance,not specified,1,,,,,, -79,71,T,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547280-46547280","hg38,11:g.46547280T>A",0.278,skin,malignant_melanoma,,,,,,,,,,,,,, -80,72,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -81,73,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -82,74,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -83,75,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -84,76,N,T,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547264-46547264","hg38,11:g.46547264T>G",0.384,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -85,77,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -86,78,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -87,79,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -88,80,T,M,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46568802-46568802, hg38,11:46547252-46547252","hg19,11:g.46568802G>A, hg38,11:g.46547252G>A",0.563,"biliary_tract, gallbladder, urinary_tract, bladder","carcinoma, small_cell_carcinoma, carcinoma, transitional_cell_carcinoma",,,,,869202,Uncertain significance,Neural tube defect,0,,,,,, -89,81,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -90,82,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -91,83,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -92,84,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -93,85,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -94,86,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -95,87,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -96,88,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -97,89,H,N,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46568776-46568776, hg38,11:46547226-46547226","hg19,11:g.46568776G>T, hg38,11:g.46547226G>T",0.268,,,,,,,3860365,Uncertain significance,not specified,1,,,,,, -98,90,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46547222-46547222","hg38,11:g.46547222G>A",0.633,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, -99,91,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -100,92,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -101,93,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -102,94,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -103,95,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46568758-46568758, hg38,11:46547208-46547208","hg19,11:g.46568758G>A, hg38,11:g.46547208G>A",0.403,,,,,,,4090621,Uncertain significance,not specified,1,,,,,, -104,95,R,H,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46568757-46568757, hg38,11:46547207-46547207","hg19,11:g.46568757C>T, hg38,11:g.46547207C>T",0.204,"endometrium, large_intestine, colon, transverse","adenoma, tubulovillous, carcinoma, adenocarcinoma, carcinoma, endometrioid_carcinoma, hyperplasia, atypical",,,,,2220299,Uncertain significance,not specified,1,,,,,, -105,96,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547205-46547205","hg38,11:g.46547205G>A",0.492,"haematopoietic_and_lymphoid_tissue, central_nervous_system, stomach","carcinoma, lymphoid_neoplasm, primary_central_nervous_system_lymphoma",,,,,,,,,,,,,, -106,96,R,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547204-46547204","hg38,11:g.46547204C>A",0.622,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -107,97,T,I,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46547201-46547201","hg38,11:g.46547201G>A",0.548,,malignant_melanoma,,,,,,,,,,,,,, -108,98,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -109,99,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -110,100,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -111,101,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -112,102,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -113,103,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -114,104,H,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547181-46547181","hg38,11:g.46547181G>A",0.658,"central_nervous_system, frontal_lobe","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -115,105,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547177-46547177","hg38,11:g.46547177G>A",0.752,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -116,105,P,S,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46568728-46568728, hg38,11:46547178-46547178","hg19,11:g.46568728G>A, hg38,11:g.46547178G>A",0.699,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,4640157,Uncertain significance,not specified,1,,,,,, -117,106,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -118,107,I,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547172-46547172","hg38,11:g.46547172T>G",0.280,liver,carcinoma,,,,,,,,,,,,,, -119,107,I,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547172-46547172","hg38,11:g.46547172T>C",0.247,"liver, lung","carcinoma, adenocarcinoma, carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -120,108,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -121,109,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -122,110,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547163-46547163","hg38,11:g.46547163G>A",0.421,skin,malignant_melanoma,,,,,,,,,,,,,, -123,110,L,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547162-46547162","hg38,11:g.46547162A>C",0.684,pancreas,"carcinoma, ductal_carcinoma",,,,,,,,,,,,,, -124,111,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -125,112,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -126,113,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -127,114,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -128,115,C,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547147-46547147","hg38,11:g.46547147C>A",0.634,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -129,116,L,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547144-46547144","hg38,11:g.46547144A>G",0.681,"haematopoietic_and_lymphoid_tissue, lymph_node, urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma, lymphoid_neoplasm, Hodgkin_lymphoma, nodular_sclerosing",,,,,,,,,,,,,, -130,117,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -131,118,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -132,119,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547136-46547136","hg38,11:g.46547136C>T",0.450,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -133,120,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -134,121,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -135,122,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -136,123,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -137,124,D,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46547121-46547121","hg38,11:g.46547121C>A",0.669,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -138,125,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -139,126,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -140,127,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -141,128,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545772-46545772","hg38,11:g.46545772C>A",0.633,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, -142,129,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -143,130,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -144,131,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -145,132,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -146,133,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -147,134,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -148,135,D,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545752-46545752","hg38,11:g.46545752C>A",0.517,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -149,136,S,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545747-46545747","hg38,11:g.46545747G>C",0.337,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -150,137,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -151,138,N,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46567292-46567292, hg38,11:46545742-46545742","hg19,11:g.46567292T>C, hg38,11:g.46545742T>C",0.102,,,,,,,3114887,Uncertain significance,not specified,1,,,,,, -152,139,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -153,140,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -154,141,A,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46567283-46567283, hg38,11:46545733-46545733","hg19,11:g.46567283G>A, hg38,11:g.46545733G>A",0.499,,,,,,,3346128,Uncertain significance,AMBRA1-related disorder,0,,,,,, -155,142,S,C,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46567280-46567280, hg38,11:46545730-46545730","hg19,11:g.46567280G>C, hg38,11:g.46545730G>C",0.452,,,,,,,3292364,Uncertain significance,not specified,1,,,,,, -156,142,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46545730-46545730","hg38,11:g.46545730G>A",0.649,"skin, skin, face","carcinoma, basal_cell_carcinoma, carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, -157,143,L,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545728-46545728","hg38,11:g.46545728G>T",0.375,"central_nervous_system, brain",glioma,,,,,,,,,,,,,, -158,143,L,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545728-46545728","hg38,11:g.46545728G>C",0.312,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -159,144,A,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46567274-46567274, hg38,11:46545724-46545724","hg19,11:g.46567274G>A, hg38,11:g.46545724G>A",0.563,,,,,,,691340,Uncertain significance,Esophageal atresia,0,,,,,, -160,145,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -161,146,H,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545718-46545718","hg38,11:g.46545718T>G",0.767,breast,carcinoma,,,,,,,,,,,,,, -162,147,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -163,148,T,M,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46567262-46567262, hg38,11:46545712-46545712","hg19,11:g.46567262G>A, hg38,11:g.46545712G>A",0.580,prostate,"carcinoma, adenocarcinoma",,,,,4640149,Uncertain significance,not specified,1,,,,,, -164,149,A,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545709-46545709","hg38,11:g.46545709G>T",0.256,skin,malignant_melanoma,,,,,,,,,,,,,, -165,150,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -166,151,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -167,152,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -168,153,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -169,154,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -170,155,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -171,156,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -172,157,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545685-46545685","hg38,11:g.46545685G>A",0.251,"large_intestine, skin","carcinoma, adenocarcinoma, malignant_melanoma",,,,,,,,,,,,,, -173,158,N,D,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46567233-46567233, hg38,11:46545683-46545683","hg19,11:g.46567233T>C, hg38,11:g.46545683T>C",0.151,,,,,,,2595914,Uncertain significance,not specified,1,,,,,, -174,158,N,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46567232-46567232, hg38,11:46545682-46545682","hg19,11:g.46567232T>C, hg38,11:g.46545682T>C",0.097,,,,,,,2285400,Uncertain significance,not specified,1,,,,,, -175,159,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -176,160,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -177,161,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -178,162,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -179,163,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -180,164,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -181,165,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -182,166,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -183,167,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545655-46545655","hg38,11:g.46545655C>T",0.378,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -184,168,R,W,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46567203-46567203, hg38,11:46545653-46545653","hg19,11:g.46567203G>A, hg38,11:g.46545653G>A",0.338,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,3292323,Uncertain significance,not specified,1,,,,,, -185,169,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -186,170,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545647-46545647","hg38,11:g.46545647G>A",0.496,skin,malignant_melanoma,,,,,,,,,,,,,, -187,171,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -188,172,A,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545640-46545640","hg38,11:g.46545640G>T",0.213,liver,"other, neoplasm",,,,,,,,,,,,,, -189,172,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545640-46545640","hg38,11:g.46545640G>A",0.035,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -190,173,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -191,174,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -192,175,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -193,176,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -194,177,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -195,178,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -196,179,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -197,180,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -198,181,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -199,182,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545610-46545610","hg38,11:g.46545610C>T",0.293,breast,"carcinoma, basal_(triple-negative)_carcinoma",,,,,,,,,,,,,, -200,183,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -201,184,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46545605-46545606","hg38,11:g.46545605_46545606delinsAA",,"skin, lip",malignant_melanoma,,,,,,,,,,,,,, -202,185,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -203,186,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46544037-46544037","hg38,11:g.46544037C>T",0.437,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -204,187,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46544032-46544032","hg38,11:g.46544032T>A",0.378,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -205,188,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -206,189,D,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46544028-46544028","hg38,11:g.46544028C>A",0.604,"skin, extremity","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, -207,190,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -208,191,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -209,192,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46544018-46544018","hg38,11:g.46544018C>A",0.669,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -210,193,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -211,194,Y,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46544013-46544013","hg38,11:g.46544013A>G",0.241,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -212,195,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -213,196,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -214,197,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -215,198,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -216,199,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -217,200,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -218,201,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -219,202,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543988-46543988","hg38,11:g.46543988G>A",0.430,skin,"malignant_melanoma, amelanotic",,,,,,,,,,,,,, -220,203,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -221,204,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -222,205,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -223,206,Q,H,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46565525-46565525, hg38,11:46543975-46543975","hg19,11:g.46565525C>G, hg38,11:g.46543975C>G",0.512,,,,,,,4371832,,,,,,,,, -224,206,Q,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543977-46543977","hg38,11:g.46543977G>T",0.487,liver,"other, neoplasm",,,,,,,,,,,,,, -225,207,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -226,208,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -227,209,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -228,210,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543389-46543389","hg38,11:g.46543389C>T",0.301,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -229,211,P,A,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564936-46564936, hg38,11:46543386-46543386","hg19,11:g.46564936G>C, hg38,11:g.46543386G>C",0.036,,,,,,,3534714,Uncertain significance,not specified,1,,,,,, -230,212,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -231,213,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -232,214,P,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564926-46564926, hg38,11:46543376-46543376","hg19,11:g.46564926G>A, hg38,11:g.46543376G>A",0.368,,,,,,,3534739,Uncertain significance,not specified,1,,,,,, -233,214,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543377-46543377","hg38,11:g.46543377G>A",0.124,"skin, skin, head_neck, skin, trunk","malignant_melanoma, malignant_melanoma, nodular",,,,,,,,,,,,,, -234,215,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -235,216,D,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543371-46543371","hg38,11:g.46543371C>G",0.403,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -236,216,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543371-46543371","hg38,11:g.46543371C>T",0.224,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -237,217,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543367-46543367","hg38,11:g.46543367C>A",0.200,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -238,218,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -239,219,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -240,220,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -241,221,S,Y,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564905-46564905, hg38,11:46543355-46543355","hg19,11:g.46564905G>T, hg38,11:g.46543355G>T",0.151,,,,,,,2468515,Uncertain significance,not specified,1,,,,,, -242,222,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -243,223,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -244,224,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543346-46543346","hg38,11:g.46543346C>T",0.477,"soft_tissue, fibrous_tissue_and_uncertain_origin, gastrointestinal_tract_(site_indeterminate), stomach","carcinoma, adenocarcinoma, gastrointestinal_stromal_tumour",,,,,,,,,,,,,, -245,224,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543347-46543347","hg38,11:g.46543347G>T",0.528,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -246,225,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543342-46543342","hg38,11:g.46543342C>A",0.277,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -247,226,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543341-46543341","hg38,11:g.46543341G>A",0.620,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -248,226,R,H,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46564890-46564890, hg38,11:46543340-46543340","hg19,11:g.46564890C>T, hg38,11:g.46543340C>T",0.458,ovary,"carcinoma, serous_carcinoma",,,,,4090603,Uncertain significance,not specified,1,,,,,, -249,227,A,T,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543338-46543338","hg38,11:g.46543338C>T",0.056,,malignant_melanoma,,,,,,,,,,,,,, -250,227,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543336-46543337","hg38,11:g.46543336_46543337delinsAA",,"skin, lower_extremity","carcinoma, Merkel_cell_carcinoma",,,,,,,,,,,,,, -251,228,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -252,229,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -253,230,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -254,231,S,L,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543325-46543325","hg38,11:g.46543325G>A",0.366,skin,malignant_melanoma,,,,,,,,,,,,,, -255,232,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -256,233,P,A,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543320-46543320","hg38,11:g.46543320G>C",0.359,"biliary_tract, bile_duct",carcinoma,,,,,,,,,,,,,, -257,234,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -258,235,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543313-46543313","hg38,11:g.46543313C>T",0.453,stomach,"carcinoma, adenocarcinoma, carcinoma, intestinal_adenocarcinoma",,,,,,,,,,,,,, -259,236,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -260,237,T,M,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543307-46543307","hg38,11:g.46543307G>A",0.534,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -261,238,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -262,239,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -263,240,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -264,241,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -265,242,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -266,243,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -267,244,L,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564837-46564837, hg38,11:46543287-46543287","hg19,11:g.46564837G>C, hg38,11:g.46543287G>C",0.244,,,,,,,4640167,Uncertain significance,not specified,1,,,,,, -268,245,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -269,246,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -270,247,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -271,248,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -272,249,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -273,250,R,C,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46564819-46564819, hg38,11:46543269-46543269","hg19,11:g.46564819G>A, hg38,11:g.46543269G>A",0.498,"large_intestine, colon, right","carcinoma, adenocarcinoma",,,,,4045991,Uncertain significance,not specified,1,,,,,, -274,251,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543265-46543265","hg38,11:g.46543265G>A",0.332,skin,malignant_melanoma,,,,,,,,,,,,,, -275,252,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -276,253,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -277,254,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -278,255,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543252-46543252","hg38,11:g.46543252C>A",0.234,oesophagus,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -279,256,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -280,257,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -281,258,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -282,259,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -283,260,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -284,261,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -285,262,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -286,263,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543228-46543228","hg38,11:g.46543228T>A",0.135,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, acute_myeloid_leukaemia",,,,,,,,,,,,,, -287,264,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -288,265,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -289,266,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -290,267,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -291,268,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -292,269,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -293,270,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -294,271,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -295,272,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543202-46543202","hg38,11:g.46543202G>A",0.179,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -296,273,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -297,274,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543196-46543196","hg38,11:g.46543196G>A",0.109,"skin, trunk","malignant_melanoma, desmoplastic",,,,,,,,,,,,,, -298,275,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -299,276,Q,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543190-46543190","hg38,11:g.46543190T>G",0.057,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -300,277,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -301,278,S,P,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543185-46543185","hg38,11:g.46543185A>G",0.172,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -302,279,T,P,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543182-46543182","hg38,11:g.46543182T>G",0.186,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -303,280,E,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543178-46543178","hg38,11:g.46543178T>C",0.082,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -304,281,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -305,282,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -306,283,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -307,284,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -308,285,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -309,286,A,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543161-46543161","hg38,11:g.46543161C>G",0.078,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -310,287,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -311,288,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -312,289,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -313,290,L,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543148-46543148","hg38,11:g.46543148A>G",0.322,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -314,291,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -315,292,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -316,293,R,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543139-46543139","hg38,11:g.46543139C>A",0.188,"skin, shoulder","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -317,294,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -318,295,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -319,296,Y,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543131-46543131","hg38,11:g.46543131A>C",0.286,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -320,297,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -321,298,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -322,299,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -323,300,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -324,301,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -325,302,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -326,303,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -327,304,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -328,305,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543104-46543104","hg38,11:g.46543104G>A",0.117,skin,malignant_melanoma,,,,,,,,,,,,,, -329,306,G,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543101-46543101","hg38,11:g.46543101C>A",0.352,placenta,choriocarcinoma,,,,,,,,,,,,,, -330,307,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -331,308,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -332,309,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -333,310,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543089-46543089","hg38,11:g.46543089G>A",0.322,skin,malignant_melanoma,,,,,,,,,,,,,, -334,311,C,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543085-46543085","hg38,11:g.46543085C>A",0.622,autonomic_ganglia,neuroblastoma,,,,,,,,,,,,,, -335,312,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -336,313,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543079-46543079","hg38,11:g.46543079C>T",0.059,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -337,314,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -338,315,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -339,316,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -340,317,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -341,318,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543064-46543064","hg38,11:g.46543064C>T",0.255,"skin, extremity",malignant_melanoma,,,,,,,,,,,,,, -342,319,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -343,320,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -344,321,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -345,322,L,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46543053-46543053","hg38,11:g.46543053G>T",0.113,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -346,323,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -347,324,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -348,325,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -349,326,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -350,327,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -351,328,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -352,329,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -353,330,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -354,331,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -355,332,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -356,333,S,C,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46543019-46543019","hg38,11:g.46543019G>C",0.156,,,,,,,,,,,,,,,, -357,334,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -358,335,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -359,336,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -360,337,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -361,338,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -362,339,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -363,340,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -364,341,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -365,342,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -366,343,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -367,344,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -368,345,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -369,346,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -370,347,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542978-46542978","hg38,11:g.46542978C>T",0.326,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -371,348,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542975-46542975","hg38,11:g.46542975G>A",0.322,skin,malignant_melanoma,,,,,,,,,,,,,, -372,349,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -373,350,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -374,351,P,R,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564515-46564515, hg38,11:46542965-46542965","hg19,11:g.46564515G>C, hg38,11:g.46542965G>C",0.170,,,,,,,3860407,Uncertain significance,not specified,1,,,,,, -375,352,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -376,353,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -377,354,Q,R,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564506-46564506, hg38,11:46542956-46542956","hg19,11:g.46564506T>C, hg38,11:g.46542956T>C",0.381,,,,,,,4046079,Uncertain significance,not specified,1,,,,,, -378,355,A,T,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564504-46564504, hg38,11:46542954-46542954","hg19,11:g.46564504C>T, hg38,11:g.46542954C>T",0.168,,,,,,,4090647,Uncertain significance,not specified,1,,,,,, -379,356,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -380,357,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -381,358,T,A,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564495-46564495, hg38,11:46542945-46542945","hg19,11:g.46564495T>C, hg38,11:g.46542945T>C",0.127,,,,,,,3114906,Likely benign,not specified,1,,,,,, -382,358,T,M,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542944-46542944","hg38,11:g.46542944G>A",0.096,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -383,359,Q,R,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564491-46564491, hg38,11:46542941-46542941","hg19,11:g.46564491T>C, hg38,11:g.46542941T>C",0.046,,,,,,,2219448,Uncertain significance,not specified,1,,,,,, -384,360,Q,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542938-46542938","hg38,11:g.46542938T>C",0.111,liver,carcinoma,,,,,,,,,,,,,, -385,361,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -386,362,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -387,363,G,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542929-46542929","hg38,11:g.46542929C>T",0.338,,malignant_melanoma,,,,,,,,,,,,,, -388,364,L,F,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46564477-46564477, hg38,11:46542927-46542927","hg19,11:g.46564477G>A, hg38,11:g.46542927G>A",0.117,"oesophagus, skin, extremity","carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,869203,Uncertain significance,Neural tube defect,0,,,,,, -389,365,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -390,366,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -391,367,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542918-46542918","hg38,11:g.46542918G>A",0.468,"large_intestine, stomach","carcinoma, carcinoma, adenocarcinoma",,,,,,,,,,,,,, -392,368,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -393,369,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -394,370,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -395,371,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -396,372,S,G,P,,,,,,,,,,NetPhos,,,"COSMIC,ClinVar",,,"hg19,11:46564453-46564453, hg38,11:46542903-46542903","hg19,11:g.46564453T>C, hg38,11:g.46542903T>C",0.338,stomach,"carcinoma, adenocarcinoma",,,,,4090707,Uncertain significance,not specified,1,,,,,, -397,373,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -398,374,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -399,375,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -400,376,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -401,377,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -402,378,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -403,379,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -404,380,G,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542878-46542878","hg38,11:g.46542878C>T",0.293,"skin, head_neck",malignant_melanoma,,,,,,,,,,,,,, -405,381,N,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542875-46542875","hg38,11:g.46542875T>A",0.407,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -406,382,T,M,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564422-46564422, hg38,11:46542872-46542872","hg19,11:g.46564422G>A, hg38,11:g.46542872G>A",0.359,,,,,,,4640161,Uncertain significance,not specified,1,,,,,, -407,383,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -408,384,R,H,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46564416-46564416, hg38,11:46542866-46542866","hg19,11:g.46564416C>T, hg38,11:g.46542866C>T",0.300,"large_intestine, oesophagus, oesophagus, middle_third","carcinoma, adenocarcinoma, carcinoma, squamous_cell_carcinoma",,,,,2481072,Uncertain significance,not specified,1,,,,,, -409,385,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -410,386,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -411,387,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -412,388,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -413,389,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -414,390,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -415,391,T,S,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564395-46564395, hg38,11:46542845-46542845","hg19,11:g.46564395G>C, hg38,11:g.46542845G>C",0.138,,,,,,,3860423,Uncertain significance,not specified,1,,,,,, -416,392,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564393-46564393, hg38,11:46542843-46542843","hg19,11:g.46564393G>A, hg38,11:g.46542843G>A",0.422,,,,,,,3292375,Uncertain significance,not specified,1,,,,,, -417,392,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542842-46542842","hg38,11:g.46542842C>T",0.291,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -418,393,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542839-46542839","hg38,11:g.46542839C>T",0.346,"autonomic_ganglia, endometrium, prostate","carcinoma, adenocarcinoma, hyperplasia, atypical, neuroblastoma",,,,,,,,,,,,,, -419,394,S,C,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564386-46564386, hg38,11:46542836-46542836","hg19,11:g.46564386G>C, hg38,11:g.46542836G>C",0.350,,,,,,,2533188,Uncertain significance,not specified,1,,,,,, -420,395,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542832-46542832","hg38,11:g.46542832C>A",0.276,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -421,396,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -422,397,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -423,398,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -424,399,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -425,400,S,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542818-46542818","hg38,11:g.46542818G>C",0.270,"endometrium, skin, mucosal, anorectal","carcinoma, endometrioid_carcinoma, malignant_melanoma",,,,,,,,,,,,,, -426,400,S,Y,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564368-46564368, hg38,11:46542818-46542818","hg19,11:g.46564368G>T, hg38,11:g.46542818G>T",0.272,,,,,,,4090696,Uncertain significance,not specified,1,,,,,, -427,401,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -428,402,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -429,403,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542810-46542810","hg38,11:g.46542810G>A",0.116,skin,malignant_melanoma,,,,,,,,,,,,,, -430,404,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -431,405,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -432,406,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -433,407,H,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542798-46542798","hg38,11:g.46542798G>A",0.275,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -434,408,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -435,409,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -436,410,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -437,411,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -438,412,P,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542782-46542782","hg38,11:g.46542782G>T",0.213,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -439,413,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542779-46542779","hg38,11:g.46542779C>A",0.335,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -440,414,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -441,415,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -442,416,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -443,417,S,A,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542768-46542768","hg38,11:g.46542768A>C",0.068,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -444,417,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542767-46542767","hg38,11:g.46542767G>A",0.468,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -445,418,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542765-46542765","hg38,11:g.46542765C>T",0.276,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, -446,418,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542765-46542765","hg38,11:g.46542765C>G",0.162,cervix,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -447,419,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -448,420,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -449,421,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542755-46542755","hg38,11:g.46542755C>T",0.358,"haematopoietic_and_lymphoid_tissue, skin","lymphoid_neoplasm, NK-T_cell_lymphoma, malignant_melanoma",,,,,,,,,,,,,, -450,422,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -451,423,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -452,424,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -453,425,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -454,426,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -455,427,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -456,428,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -457,429,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564282-46564282, hg38,11:46542732-46542732","hg19,11:g.46564282G>A, hg38,11:g.46542732G>A",0.373,,,,,,,2237750,Uncertain significance,not specified,1,,,,,, -458,430,S,Y,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542728-46542728","hg38,11:g.46542728G>T",0.245,skin,malignant_melanoma,,,,,,,,,,,,,, -459,431,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -460,432,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -461,433,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -462,434,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542716-46542716","hg38,11:g.46542716G>A",0.128,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -463,435,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -464,436,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -465,437,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542707-46542707","hg38,11:g.46542707G>A",0.475,"large_intestine, stomach","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -466,437,P,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564258-46564258, hg38,11:46542708-46542708","hg19,11:g.46564258G>A, hg38,11:g.46542708G>A",0.443,,,,,,,2553334,Uncertain significance,not specified,1,,,,,, -467,438,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -468,439,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -469,440,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -470,441,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -471,442,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -472,443,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -473,444,S,L,P,,,,,,,,,,NetPhos,,,"COSMIC,ClinVar",,,"hg19,11:46564236-46564236, hg38,11:46542686-46542686","hg19,11:g.46564236G>A, hg38,11:g.46542686G>A",0.464,"cervix, endometrium, skin","carcinoma, basal_cell_carcinoma, carcinoma, endometrioid_carcinoma, carcinoma, squamous_cell_carcinoma",,,,,2381197,Uncertain significance,not specified,1,,,,,, -474,444,S,W,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542686-46542686","hg38,11:g.46542686G>C",0.539,stomach,carcinoma,,,,,,,,,,,,,, -475,445,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542684-46542684","hg38,11:g.46542684C>T",0.283,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, -476,446,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -477,447,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -478,448,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -479,449,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -480,450,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -481,451,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -482,452,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -483,453,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -484,454,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -485,455,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -486,456,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -487,457,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -488,458,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -489,459,Q,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542642-46542642","hg38,11:g.46542642G>T",0.194,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, -490,459,Q,R,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46564191-46564191, hg38,11:46542641-46542641","hg19,11:g.46564191T>C, hg38,11:g.46542641T>C",0.084,stomach,"carcinoma, adenocarcinoma",,,,,3534683,Uncertain significance,not specified,1,,,,,, -491,460,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -492,461,S,F,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564185-46564185, hg38,11:46542635-46542635","hg19,11:g.46564185G>A, hg38,11:g.46542635G>A",0.573,,,,,,,2263064,Uncertain significance,not specified,1,,,,,, -493,462,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -494,463,Y,C,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542629-46542629","hg38,11:g.46542629T>C",0.543,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -495,463,Y,F,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46564179-46564179, hg38,11:46542629-46542629","hg19,11:g.46564179T>A, hg38,11:g.46542629T>A",0.387,,,,,,,2240350,Uncertain significance,not specified,1,,,,,, -496,464,T,A,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542627-46542627","hg38,11:g.46542627T>C",0.324,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -497,465,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -498,466,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -499,467,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -500,468,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -501,469,G,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542612-46542612","hg38,11:g.46542612C>T",0.241,skin,"malignant_melanoma, acral_lentiginous",,,,,,,,,,,,,, -502,470,R,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542608-46542608","hg38,11:g.46542608C>A",0.363,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -503,471,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -504,472,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -505,473,P,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564149-46564149, hg38,11:46542599-46542599","hg19,11:g.46564149G>A, hg38,11:g.46542599G>A",0.063,,,,,,,3114750,Uncertain significance,not specified,1,,,,,, -506,474,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -507,475,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -508,476,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -509,477,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -510,478,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -511,479,T,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542581-46542581","hg38,11:g.46542581G>A",0.099,skin,malignant_melanoma,,,,,,,,,,,,,, -512,480,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -513,481,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -514,482,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -515,483,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -516,484,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -517,485,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -518,486,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -519,487,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -520,488,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -521,489,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -522,490,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -523,491,N,Y,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564096-46564096, hg38,11:46542546-46542546","hg19,11:g.46564096T>A, hg38,11:g.46542546T>A",0.287,,,,,,,2389632,Uncertain significance,not specified,1,,,,,, -524,492,S,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542542-46542542","hg38,11:g.46542542G>C",0.318,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -525,493,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -526,494,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -527,495,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -528,496,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542531-46542531","hg38,11:g.46542531G>A",0.499,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -529,496,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542530-46542530","hg38,11:g.46542530C>T",0.281,"large_intestine, upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, adenocarcinoma, carcinoma, nasopharyngeal_carcinoma",,,,,,,,,,,,,, -530,497,H,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542528-46542528","hg38,11:g.46542528G>T",0.085,"central_nervous_system, brain",primitive_neuroectodermal_tumour-medulloblastoma,,,,,,,,,,,,,, -531,498,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -532,499,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -533,500,Q,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542518-46542518","hg38,11:g.46542518T>A",0.415,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -534,500,Q,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542518-46542518","hg38,11:g.46542518T>C",0.216,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -535,501,C,R,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46564066-46564066, hg38,11:46542516-46542516","hg19,11:g.46564066A>G, hg38,11:g.46542516A>G",0.754,,,,,,,4090687,Uncertain significance,not specified,1,,,,,, -536,502,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -537,503,L,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542509-46542509","hg38,11:g.46542509A>G",0.646,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -538,504,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -539,505,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542504-46542504","hg38,11:g.46542504G>A",0.647,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, -540,506,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -541,507,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -542,508,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -543,509,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -544,510,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -545,511,D,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542485-46542485","hg38,11:g.46542485T>C",0.415,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -546,512,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -547,513,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -548,514,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -549,515,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542474-46542474","hg38,11:g.46542474C>T",0.387,"urinary_tract, bladder","carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -550,516,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -551,517,D,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542468-46542468","hg38,11:g.46542468C>G",0.445,skin,"benign_melanocytic_nevus, dysplastic",,,,,,,,,,,,,, -552,517,D,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542468-46542468","hg38,11:g.46542468C>A",0.455,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -553,518,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -554,519,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -555,520,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -556,521,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -557,522,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542452-46542452","hg38,11:g.46542452C>A",0.438,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -558,523,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542450-46542450","hg38,11:g.46542450C>T",0.176,"skin, arm","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -559,524,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -560,525,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542443-46542443","hg38,11:g.46542443G>A",0.083,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -561,525,P,S,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46563994-46563994, hg38,11:46542444-46542444","hg19,11:g.46563994G>A, hg38,11:g.46542444G>A",0.117,"haematopoietic_and_lymphoid_tissue, abdomen","lymphoid_neoplasm, Burkitt_lymphoma, endemic_variant",,,,,2389611,Uncertain significance,not specified,1,,,,,, -562,526,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -563,527,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -564,528,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -565,529,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -566,530,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -567,531,Q,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542425-46542425","hg38,11:g.46542425T>A",0.445,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -568,532,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -569,533,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -570,534,L,F,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563967-46563967, hg38,11:46542417-46542417","hg19,11:g.46563967G>A, hg38,11:g.46542417G>A",0.400,,,,,,,3860373,Uncertain significance,not specified,1,,,,,, -571,535,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -572,536,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -573,537,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -574,538,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -575,539,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542402-46542402","hg38,11:g.46542402C>T",0.405,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -576,540,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -577,541,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542396-46542396","hg38,11:g.46542396C>T",0.257,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -578,541,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542396-46542396","hg38,11:g.46542396C>G",0.223,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -579,542,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -580,543,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -581,544,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -582,545,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -583,546,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -584,547,H,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542378-46542378","hg38,11:g.46542378G>A",0.398,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -585,548,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -586,549,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -587,550,T,P,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542369-46542369","hg38,11:g.46542369T>G",0.306,breast,carcinoma,,,,,,,,,,,,,, -588,551,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -589,552,H,Y,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563913-46563913, hg38,11:46542363-46542363","hg19,11:g.46563913G>A, hg38,11:g.46542363G>A",0.284,,,,,,,2634662,Uncertain significance,AMBRA1-related disorder,1,,,,,, -590,553,S,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542359-46542359","hg38,11:g.46542359C>T",0.171,stomach,carcinoma,,,,,,,,,,,,,, -591,554,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -592,555,E,A,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563903-46563903, hg38,11:46542353-46542353","hg19,11:g.46563903T>G, hg38,11:g.46542353T>G",0.375,,,,,,,3114761,Uncertain significance,not specified,1,,,,,, -593,556,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -594,557,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -595,558,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -596,559,N,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563891-46563891, hg38,11:46542341-46542341","hg19,11:g.46563891T>A, hg38,11:g.46542341T>A",0.222,,,,,,,4640151,Uncertain significance,not specified,1,,,,,, -597,560,L,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542339-46542339","hg38,11:g.46542339G>T",0.184,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -598,561,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -599,562,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542333-46542333","hg38,11:g.46542333G>A",0.407,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",,,,,,,,,,,,,, -600,562,R,H,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563882-46563882, hg38,11:46542332-46542332","hg19,11:g.46563882C>T, hg38,11:g.46542332C>T",0.276,,,,,,,2407162,Uncertain significance,not specified,1,,,,,, -601,563,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -602,564,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -603,565,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -604,566,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -605,567,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542318-46542318","hg38,11:g.46542318G>A",0.570,skin,malignant_melanoma,,,,,,,,,,,,,, -606,568,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -607,569,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542312-46542312","hg38,11:g.46542312G>A",0.605,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -608,570,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -609,571,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -610,572,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -611,573,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -612,574,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -613,575,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -614,576,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -615,577,F,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542288-46542288","hg38,11:g.46542288A>G",0.490,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, -616,578,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -617,579,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -618,580,D,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542278-46542278","hg38,11:g.46542278T>A",0.544,liver,carcinoma,,,,,,,,,,,,,, -619,581,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -620,582,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -621,583,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563820-46563820, hg38,11:46542270-46542270","hg19,11:g.46563820G>A, hg38,11:g.46542270G>A",0.719,,,,,,,2522640,Uncertain significance,not specified,1,,,,,, -622,584,W,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542265-46542265","hg38,11:g.46542265C>A",0.746,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -623,585,E,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542263-46542263","hg38,11:g.46542263T>C",0.601,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -624,586,R,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563810-46563810, hg38,11:46542260-46542260","hg19,11:g.46563810C>A, hg38,11:g.46542260C>A",0.679,,,,,,,4640152,Uncertain significance,not specified,1,,,,,, -625,587,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -626,588,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -627,589,P,A,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542252-46542252","hg38,11:g.46542252G>C",0.266,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -628,590,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -629,591,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -630,592,S,Y,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46563792-46563792, hg38,11:46542242-46542242","hg19,11:g.46563792G>T, hg38,11:g.46542242G>T",0.192,,,,,,,3534688,Uncertain significance,not specified,1,,,,,, -631,593,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -632,594,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -633,595,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542234-46542234","hg38,11:g.46542234C>T",0.205,"lung, lung, right_lower_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -634,595,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542234-46542234","hg38,11:g.46542234C>G",0.197,skin,malignant_melanoma,,,,,,,,,,,,,, -635,596,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -636,597,S,G,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46563778-46563778, hg38,11:46542228-46542228","hg19,11:g.46563778T>C, hg38,11:g.46542228T>C",0.089,,,,,,,4640158,Uncertain significance,not specified,1,,,,,, -637,598,S,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542224-46542224","hg38,11:g.46542224G>A",0.246,"soft_tissue, blood_vessel, skin, scalp",angiosarcoma,,,,,,,,,,,,,, -638,599,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -639,600,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -640,601,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542214-46542214","hg38,11:g.46542214C>A, hg38,11:g.46542214C>G",0.088,"liver, stomach, stomach, gastroesophageal_junction","carcinoma, adenocarcinoma, carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -641,602,V,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542213-46542213","hg38,11:g.46542213C>T",0.109,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, -642,603,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542210-46542210","hg38,11:g.46542210G>A",0.040,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -643,604,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -644,605,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542202-46542203","hg38,11:g.46542202_46542203delinsAA",,skin,malignant_melanoma,,,,,,,,,,,,,, -645,606,F,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542200-46542200","hg38,11:g.46542200A>G",0.213,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -646,606,F,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563751-46563751, hg38,11:46542201-46542201","hg19,11:g.46563751A>C, hg38,11:g.46542201A>C",0.275,,,,,,,2494699,Uncertain significance,not specified,1,,,,,, -647,607,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -648,608,S,T,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46563744-46563744, hg38,11:46542194-46542194","hg19,11:g.46563744C>G, hg38,11:g.46542194C>G",0.091,,,,,,,2477165,Uncertain significance,not specified,1,,,,,, -649,609,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -650,610,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -651,611,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -652,612,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -653,613,G,D,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563729-46563729, hg38,11:46542179-46542179","hg19,11:g.46563729C>T, hg38,11:g.46542179C>T",0.408,,,,,,,2282062,Uncertain significance,not specified,1,,,,,, -654,614,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -655,615,Q,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542174-46542174","hg38,11:g.46542174G>T",0.442,liver,"other, neoplasm",,,,,,,,,,,,,, -656,615,Q,P,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563723-46563723, hg38,11:46542173-46542173","hg19,11:g.46563723T>G, hg38,11:g.46542173T>G",0.380,,,,,,,3114781,Uncertain significance,not specified,1,,,,,, -657,616,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -658,617,P,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563717-46563717, hg38,11:46542167-46542167","hg19,11:g.46563717G>A, hg38,11:g.46542167G>A",0.374,,,,,,,4046011,Uncertain significance,not specified,1,,,,,, -659,618,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -660,619,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -661,620,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -662,621,R,W,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563706-46563706, hg38,11:46542156-46542156","hg19,11:g.46563706G>A, hg38,11:g.46542156G>A",0.488,,,,,,,3534701,Uncertain significance,not specified,1,,,,,, -663,622,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -664,623,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542150-46542150","hg38,11:g.46542150C>T",0.411,stomach,"carcinoma, intestinal_adenocarcinoma",,,,,,,,,,,,,, -665,624,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -666,625,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -667,626,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -668,627,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -669,628,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -670,629,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -671,630,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -672,631,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542124-46542124","hg38,11:g.46542124C>G",0.418,"small_intestine, duodenum","adenoma, tubulovillous",,,,,,,,,,,,,, -673,632,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -674,633,E,G,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563669-46563669, hg38,11:46542119-46542119","hg19,11:g.46563669T>C, hg38,11:g.46542119T>C",0.431,,,,,,,4640155,Uncertain significance,not specified,1,,,,,, -675,634,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -676,635,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -677,636,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -678,637,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -679,638,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -680,639,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -681,640,P,L,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46563648-46563648, hg38,11:46542098-46542098","hg19,11:g.46563648G>A, hg38,11:g.46542098G>A",0.414,large_intestine,"carcinoma, adenocarcinoma",,,,,2225802,Uncertain significance,not specified,1,,,,,, -682,640,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542099-46542099","hg38,11:g.46542099G>A",0.293,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -683,641,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -684,642,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542093-46542093","hg38,11:g.46542093C>T",0.437,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -685,643,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -686,644,R,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542086-46542086","hg38,11:g.46542086C>A",0.543,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -687,645,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -688,646,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -689,647,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -690,648,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -691,649,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -692,650,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -693,651,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -694,652,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -695,653,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -696,654,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -697,655,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -698,656,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -699,657,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -700,658,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542045-46542045","hg38,11:g.46542045C>T",0.570,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -701,659,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -702,660,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -703,661,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -704,662,T,A,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542033-46542033","hg38,11:g.46542033T>C",0.312,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -705,663,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -706,664,S,P,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46542027-46542027","hg38,11:g.46542027A>G",0.279,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, -707,665,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -708,666,R,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542020-46542020","hg38,11:g.46542020C>A",0.514,"urinary_tract, bladder","carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -709,667,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -710,668,G,E,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563564-46563564, hg38,11:46542014-46542014","hg19,11:g.46563564C>T, hg38,11:g.46542014C>T",0.479,,,,,,,3860402,Uncertain significance,not specified,1,,,,,, -711,669,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -712,670,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -713,671,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -714,672,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -715,673,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541998-46541998","hg38,11:g.46541998C>A",0.275,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -716,673,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46542000-46542000","hg38,11:g.46542000C>T",0.576,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -717,674,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -718,675,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -719,676,H,D,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46563541-46563541, hg38,11:46541991-46541991","hg19,11:g.46563541G>C, hg38,11:g.46541991G>C",0.314,,,,,,,4090546,Uncertain significance,not specified,1,,,,,, -720,677,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -721,678,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -722,679,M,I,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46563530-46563530, hg38,11:46541980-46541980","hg19,11:g.46563530C>G, hg38,11:g.46541980C>A, hg38,11:g.46541980C>G",0.365,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, chronic_myelomonocytic_leukaemia",,,,,4090700,Uncertain significance,not specified,1,,,,,, -723,680,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -724,681,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541976-46541976","hg38,11:g.46541976C>G",0.434,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, chronic_myelomonocytic_leukaemia",,,,,,,,,,,,,, -725,682,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541971-46541971","hg38,11:g.46541971C>A",0.415,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -726,683,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -727,684,S,F,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46563516-46563516, hg38,11:46541966-46541966","hg19,11:g.46563516G>A, hg38,11:g.46541966G>A",0.415,,,,,,,2226306,Uncertain significance,not specified,1,,,,,, -728,684,S,T,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46563517-46563517, hg38,11:46541967-46541967","hg19,11:g.46563517A>T, hg38,11:g.46541967A>T",0.283,,,,,,,2249602,Uncertain significance,not specified,1,,,,,, -729,685,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541964-46541964","hg38,11:g.46541964C>T",0.580,"oesophagus, middle_third","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -730,685,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541964-46541964","hg38,11:g.46541964C>G",0.502,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -731,686,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541961-46541961","hg38,11:g.46541961C>T",0.497,skin,malignant_melanoma,,,,,,,,,,,,,, -732,687,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -733,688,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -734,689,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46541952-46541952","hg38,11:g.46541952G>A",0.472,,malignant_melanoma,,,,,,,,,,,,,, -735,690,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -736,691,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -737,692,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -738,693,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -739,694,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -740,695,E,D,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46534351-46534351, hg38,11:46512801-46512801","hg19,11:g.46534351T>G, hg38,11:g.46512801T>G",0.531,,,,,,,4640156,Uncertain significance,not specified,1,,,,,, -741,696,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -742,697,S,P,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46512797-46512797","hg38,11:g.46512797A>G",0.581,skin,malignant_melanoma,,,,,,,,,,,,,, -743,698,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -744,699,I,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46534341-46534341, hg38,11:46512791-46512791","hg19,11:g.46534341T>C, hg38,11:g.46512791T>C",0.310,,,,,,,3860379,Uncertain significance,not specified,1,,,,,, -745,700,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -746,701,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -747,702,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46512781-46512781","hg38,11:g.46512781G>A",0.696,"skin, trunk","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, -748,703,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46534329-46534329, hg38,11:46512779-46512779","hg19,11:g.46534329G>A, hg38,11:g.46512779G>A",0.704,,,,,,,4045998,Uncertain significance,not specified,1,,,,,, -749,703,R,H,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46534328-46534328, hg38,11:46512778-46512778","hg19,11:g.46534328C>T, hg38,11:g.46512778C>T",0.588,stomach,"carcinoma, intestinal_adenocarcinoma",,,,,3292353,Uncertain significance,not specified,1,,,,,, -750,704,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -751,705,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46512773-46512773","hg38,11:g.46512773C>T",0.472,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -752,706,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -753,707,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -754,708,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -755,709,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46512760-46512760","hg38,11:g.46512760G>A",0.607,skin,malignant_melanoma,,,,,,,,,,,,,, -756,709,S,T,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46512761-46512761","hg38,11:g.46512761A>T",0.482,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -757,710,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -758,711,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -759,712,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -760,713,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -761,714,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -762,715,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -763,716,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -764,717,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -765,718,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46512734-46512734","hg38,11:g.46512734G>A",0.390,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, acute_lymphoblastic_B_cell_leukaemia",,,,,,,,,,,,,, -766,719,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46512730-46512730","hg38,11:g.46512730G>A",0.444,"large_intestine, large_intestine, colon, right, upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, adenocarcinoma, carcinoma, nasopharyngeal_carcinoma, non_keratinizing",,,,,,,,,,,,,, -767,720,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494204-46494204","hg38,11:g.46494204C>A",0.296,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -768,721,D,E,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515751-46515751, hg38,11:46494201-46494201","hg19,11:g.46515751G>C, hg38,11:g.46494201G>C",0.472,,,,,,,3114802,Uncertain significance,not specified,1,,,,,, -769,721,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494203-46494203","hg38,11:g.46494203C>T",0.379,"skin, scalp",malignant_melanoma,,,,,,,,,,,,,, -770,722,N,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515749-46515749, hg38,11:46494199-46494199","hg19,11:g.46515749T>C, hg38,11:g.46494199T>C",0.304,,,,,,,3036278,Likely benign,AMBRA1-related disorder,0,,,,,, -771,723,G,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494196-46494196","hg38,11:g.46494196C>T",0.608,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -772,724,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494194-46494194","hg38,11:g.46494194C>T",0.385,stomach,"carcinoma, carcinoma, diffuse_adenocarcinoma",,,,,,,,,,,,,, -773,725,R,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494190-46494190","hg38,11:g.46494190C>A",0.580,"central_nervous_system, brain","glioma, astrocytoma_Grade_III, pleomorphic_xanthoastrocytoma",,,,,,,,,,,,,, -774,726,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -775,727,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494183-46494183","hg38,11:g.46494183C>A",0.736,"biliary_tract, gallbladder","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -776,728,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -777,729,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -778,730,A,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494176-46494176","hg38,11:g.46494176C>G",0.453,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -779,731,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -780,732,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494170-46494170","hg38,11:g.46494170G>A",0.649,"upper_aerodigestive_tract, mouth",carcinoma,,,,,,,,,,,,,, -781,732,R,H,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515719-46515719, hg38,11:46494169-46494169","hg19,11:g.46515719C>T, hg38,11:g.46494169C>T",0.545,,,,,,,3860433,Uncertain significance,not specified,1,,,,,, -782,733,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -783,734,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -784,735,R,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515710-46515710, hg38,11:46494160-46494160","hg19,11:g.46515710C>A, hg38,11:g.46494160C>A",0.661,,,,,,,3114803,Uncertain significance,not specified,1,,,,,, -785,735,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494160-46494160","hg38,11:g.46494160C>T",0.465,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, -786,735,R,W,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46515711-46515711, hg38,11:46494161-46494161","hg19,11:g.46515711G>A, hg38,11:g.46494161G>A",0.691,"large_intestine, colon, right, lung","carcinoma, adenocarcinoma, carcinoma, non_small_cell_carcinoma",,,,,3534694,Uncertain significance,not specified,1,,,,,, -787,736,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -788,737,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -789,738,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -790,739,P,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515699-46515699, hg38,11:46494149-46494149","hg19,11:g.46515699G>A, hg38,11:g.46494149G>A",0.456,,,,,,,4090655,Uncertain significance,not specified,1,,,,,, -791,740,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -792,741,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -793,742,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -794,743,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494136-46494136","hg38,11:g.46494136C>T",0.728,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -795,744,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -796,745,V,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515681-46515681, hg38,11:46494131-46494131","hg19,11:g.46515681C>T, hg38,11:g.46494131C>T",0.367,,,,,,,4046082,Uncertain significance,not specified,1,,,,,, -797,746,P,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515677-46515677, hg38,11:46494127-46494127","hg19,11:g.46515677G>T, hg38,11:g.46494127G>T",0.750,,,,,,,4640154,Uncertain significance,not specified,1,,,,,, -798,747,R,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46494124-46494124","hg38,11:g.46494124C>A",0.737,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -799,748,R,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46493707-46493707","hg38,11:g.46493707G>A",0.804,"large_intestine, caecum, prostate","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -800,748,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46493706-46493706","hg38,11:g.46493706C>T",0.764,"large_intestine, colon, ascending","adenoma, tubulovillous, high_grade_dysplasia, carcinoma, adenocarcinoma",,,,,,,,,,,,,, -801,749,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -802,750,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -803,751,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -804,752,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -805,753,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -806,754,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -807,755,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -808,756,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -809,757,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -810,758,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -811,759,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -812,760,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -813,761,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -814,762,H,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46493665-46493665","hg38,11:g.46493665G>A",0.669,skin,malignant_melanoma,,,,,,,,,,,,,, -815,763,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -816,764,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -817,765,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -818,766,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -819,767,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -820,768,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -821,769,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -822,770,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -823,771,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -824,772,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -825,773,S,F,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515181-46515181, hg38,11:46493631-46493631","hg19,11:g.46515181G>A, hg38,11:g.46493631G>A",0.738,,,,,,,869204,Uncertain significance,Neural tube defect,0,,,,,, -826,774,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -827,775,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -828,776,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -829,777,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -830,778,V,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46515167-46515167, hg38,11:46493617-46493617","hg19,11:g.46515167C>T, hg38,11:g.46493617C>T",0.171,,,,,,,4640166,Uncertain significance,not specified,1,,,,,, -831,779,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -832,780,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -833,781,G,E,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443598-46443598","hg38,11:g.46443598C>T",0.744,skin,"malignant_melanoma, spitzoid",,,,,,,,,,,,,, -834,782,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -835,783,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -836,784,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -837,785,G,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46465137-46465137, hg38,11:46443587-46443587","hg19,11:g.46465137C>T, hg38,11:g.46443587C>T",0.309,,,,,,,4640150,Uncertain significance,not specified,1,,,,,, -838,786,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -839,787,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -840,788,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -841,789,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -842,790,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -843,791,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -844,792,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -845,793,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -846,794,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -847,795,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -848,796,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -849,797,N,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443550-46443550","hg38,11:g.46443550T>C",0.201,prostate,adenoma,,,,,,,,,,,,,, -850,798,T,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46443547-46443547","hg38,11:g.46443547G>T",0.539,endometrium,carcinoma,,,,,,,,,,,,,, -851,798,T,S,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46443547-46443547","hg38,11:g.46443547G>C",0.535,"lung, right_upper_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -852,799,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -853,800,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -854,801,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443538-46443538","hg38,11:g.46443538C>T",0.850,"biliary_tract, bile_duct, endometrium","carcinoma, carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -855,801,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443539-46443539","hg38,11:g.46443539G>A",0.744,salivary_gland,"carcinoma, adenoid_cystic_carcinoma",,,,,,,,,,,,,, -856,802,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443536-46443536","hg38,11:g.46443536G>A",0.365,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -857,802,L,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443535-46443535","hg38,11:g.46443535A>G",0.613,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -858,803,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -859,804,W,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443530-46443530","hg38,11:g.46443530A>G",0.920,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -860,805,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -861,806,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -862,807,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -863,808,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -864,809,K,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443515-46443515","hg38,11:g.46443515T>G",0.262,testis,"germ_cell_tumour, teratoma",,,,,,,,,,,,,, -865,810,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -866,811,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -867,812,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -868,813,P,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443502-46443502","hg38,11:g.46443502G>T",0.348,skin,malignant_melanoma,,,,,,,,,,,,,, -869,814,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -870,815,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -871,816,S,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46443493-46443493","hg38,11:g.46443493C>T",0.253,"small_intestine, duodenum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -872,817,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -873,818,A,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46465038-46465038, hg38,11:46443488-46443488","hg19,11:g.46465038C>A, hg38,11:g.46443488C>A",0.115,,,,,,,4371824,,,,,,,,, -874,818,A,T,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46465038-46465038, hg38,11:46443488-46443488","hg19,11:g.46465038C>T, hg38,11:g.46443488C>T",0.178,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,4371825,,,,,,,,, -875,818,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46435037-46435037","hg38,11:g.46435037G>A",0.323,"skin, trunk","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, -876,819,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -877,820,V,M,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46456582-46456582, hg38,11:46435032-46435032","hg19,11:g.46456582C>T, hg38,11:g.46435032C>T",0.070,liver,"carcinoma, hepatocellular_carcinoma",,,,,2513817,Uncertain significance,not specified,1,,,,,, -878,821,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -879,822,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -880,823,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -881,824,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46435020-46435020","hg38,11:g.46435020C>T",0.523,"biliary_tract, bile_duct",carcinoma,,,,,,,,,,,,,, -882,825,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -883,826,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -884,827,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -885,828,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -886,829,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -887,830,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -888,831,N,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434999-46434999","hg38,11:g.46434999T>C",0.371,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, -889,832,D,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434996-46434996","hg38,11:g.46434996C>T",0.214,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -890,833,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -891,834,S,G,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46456540-46456540, hg38,11:46434990-46434990","hg19,11:g.46456540T>C, hg38,11:g.46434990T>C",0.405,,,,,,,4640163,Uncertain significance,not specified,1,,,,,, -892,835,C,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434987-46434987","hg38,11:g.46434987A>C",0.602,"haematopoietic_and_lymphoid_tissue, haematopoietic_and_lymphoid_tissue, lymph_node","lymphoid_neoplasm, chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma, lymphoid_neoplasm, chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma, Richter_transformation",,,,,,,,,,,,,, -893,835,C,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434987-46434987","hg38,11:g.46434987A>G",0.658,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -894,836,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -895,837,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -896,838,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -897,839,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -898,840,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -899,841,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -900,842,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -901,843,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -902,844,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -903,845,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -904,846,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -905,847,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -906,848,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -907,849,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434944-46434944","hg38,11:g.46434944G>A",0.559,breast,"carcinoma, metaplastic_carcinoma",,,,,,,,,,,,,, -908,850,S,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434941-46434941","hg38,11:g.46434941C>A",0.294,lung,"carcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -909,850,S,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434942-46434942","hg38,11:g.46434942T>G",0.194,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -910,851,S,R,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46434937-46434937","hg38,11:g.46434937G>T",0.245,pancreas,"carcinoid-endocrine_tumour, non_functioning",,,,,,,,,,,,,, -911,852,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434934-46434934","hg38,11:g.46434934C>A",0.126,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -912,853,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -913,854,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -914,855,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -915,856,P,S,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46456474-46456474, hg38,11:46434924-46434924","hg19,11:g.46456474G>A, hg38,11:g.46434924G>A",0.367,"skin, skin, scalp","carcinoma, basal_cell_carcinoma, malignant_melanoma, malignant_melanoma, spitzoid",,,,,2545775,Uncertain significance,not specified,1,,,,,, -916,857,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -917,858,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -918,859,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -919,860,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -920,861,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -921,862,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -922,863,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -923,864,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -924,865,S,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434896-46434896","hg38,11:g.46434896G>A",0.598,"skin, skin, head_neck","carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, -925,866,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -926,867,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -927,868,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434888-46434888","hg38,11:g.46434888G>A",0.511,"skin, upper_back","adnexal_tumour, malignant_adnexal_tumour, eccrine_porocarcinoma",,,,,,,,,,,,,, -928,869,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -929,870,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -930,871,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -931,872,G,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434876-46434876","hg38,11:g.46434876C>T",0.385,prostate,carcinoma,,,,,,,,,,,,,, -932,873,E,G,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46456422-46456422, hg38,11:46434872-46434872","hg19,11:g.46456422T>C, hg38,11:g.46434872T>C",0.454,,,,,,,3534732,Uncertain significance,not specified,1,,,,,, -933,873,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434873-46434873","hg38,11:g.46434873C>T",0.363,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -934,874,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -935,875,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434867-46434867","hg38,11:g.46434867G>A",0.245,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -936,876,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -937,877,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -938,878,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -939,879,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -940,880,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -941,881,G,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46434849-46434849","hg38,11:g.46434849C>A",0.476,skin,malignant_melanoma,,,,,,,,,,,,,, -942,882,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -943,883,N,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433623-46433623","hg38,11:g.46433623T>C",0.291,liver,carcinoma,,,,,,,,,,,,,, -944,884,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433619-46433619","hg38,11:g.46433619G>A",0.382,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -945,885,I,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433617-46433617","hg38,11:g.46433617T>C",0.258,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -946,886,S,L,P,,,,,,,,,,NetPhos,,,"COSMIC,ClinVar",,,"hg19,11:46455163-46455163, hg38,11:46433613-46433613","hg19,11:g.46455163G>A, hg38,11:g.46433613G>A",0.529,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,4090693,Uncertain significance,not specified,1,,,,,, -947,887,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -948,888,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -949,889,L,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433604-46433604","hg38,11:g.46433604A>T",0.502,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -950,890,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46433601-46433601","hg38,11:g.46433601G>A",0.532,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -951,891,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433598-46433598","hg38,11:g.46433598G>A",0.547,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -952,892,M,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433594-46433594","hg38,11:g.46433594C>A",0.355,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -953,892,M,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433596-46433596","hg38,11:g.46433596T>A",0.347,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -954,892,M,V,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46455146-46455146, hg38,11:46433596-46433596","hg19,11:g.46455146T>C, hg38,11:g.46433596T>C",0.356,lung,"carcinoma, carcinoma, squamous_cell_carcinoma",,,,,2553565,Uncertain significance,not specified,1,,,,,, -955,893,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433592-46433592","hg38,11:g.46433592C>A",0.547,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -956,894,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -957,895,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -958,896,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -959,897,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -960,898,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -961,899,G,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433575-46433575","hg38,11:g.46433575C>A",0.573,lung,"carcinoma, large_cell_neuroendocrine_carcinoma",,,,,,,,,,,,,, -962,900,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -963,901,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -964,902,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -965,903,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -966,904,R,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433559-46433559","hg38,11:g.46433559C>T",0.447,"haematopoietic_and_lymphoid_tissue, central_nervous_system","lymphoid_neoplasm, primary_central_nervous_system_lymphoma",,,,,,,,,,,,,, -967,904,R,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433558-46433558","hg38,11:g.46433558C>G",0.293,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -968,905,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -969,906,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -970,907,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -971,908,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -972,909,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -973,910,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -974,911,T,A,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46455089-46455089, hg38,11:46433539-46433539","hg19,11:g.46455089T>C, hg38,11:g.46433539T>C",0.398,,,,,,,2308603,Uncertain significance,not specified,1,,,,,, -975,912,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433536-46433536","hg38,11:g.46433536C>T",0.241,"upper_aerodigestive_tract, mouth",carcinoma,,,,,,,,,,,,,, -976,913,H,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433531-46433531","hg38,11:g.46433531G>T",0.239,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, -977,914,M,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46455080-46455080, hg38,11:46433530-46433530","hg19,11:g.46455080T>C, hg38,11:g.46433530T>C",0.365,,,,,,,869205,Uncertain significance,Neural tube defect,0,,,,,, -978,915,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -979,916,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -980,917,Q,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433519-46433519","hg38,11:g.46433519C>A",0.270,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -981,918,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -982,919,F,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433513-46433513","hg38,11:g.46433513G>T",0.368,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, -983,920,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -984,921,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -985,922,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -986,923,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -987,924,A,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46455049-46455049, hg38,11:46433499-46433499","hg19,11:g.46455049G>A, hg38,11:g.46433499G>A",0.249,,,,,,,3114816,Uncertain significance,not specified,1,,,,,, -988,925,H,Y,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46455047-46455047, hg38,11:46433497-46433497","hg19,11:g.46455047G>A, hg38,11:g.46433497G>A",0.438,,,,,,,3860358,Uncertain significance,not specified,1,,,,,, -989,926,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -990,927,G,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433490-46433490","hg38,11:g.46433490C>A",0.524,skin,malignant_melanoma,,,,,,,,,,,,,, -991,928,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -992,929,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -993,930,S,Y,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46433481-46433481","hg38,11:g.46433481G>T",0.486,skin,malignant_melanoma,,,,,,,,,,,,,, -994,931,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -995,932,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -996,933,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -997,934,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -998,935,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -999,936,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1000,937,V,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46439590-46439590, hg38,11:46418040-46418040","hg19,11:g.46439590C>T, hg38,11:g.46418040C>T",0.241,,,,,,,2385069,Uncertain significance,not specified,1,,,,,, -1001,938,L,P,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46439586-46439586, hg38,11:46418036-46418036","hg19,11:g.46439586A>G, hg38,11:g.46418036A>G",0.661,,,,,,,3114825,Uncertain significance,not specified,1,,,,,, -1002,939,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1003,940,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46418030-46418030","hg38,11:g.46418030G>A",0.694,"skin, thyroid","carcinoma, malignant_melanoma",,,,,,,,,,,,,, -1004,941,M,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46418026-46418026","hg38,11:g.46418026C>A",0.282,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -1005,942,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1006,943,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1007,944,D,Y,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46439569-46439569, hg38,11:46418019-46418019","hg19,11:g.46439569C>A, hg38,11:g.46418019C>A",0.509,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,4371818,,,,,,,,, -1008,945,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1009,946,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46418012-46418012","hg38,11:g.46418012C>T",0.363,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1010,946,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46418013-46418013","hg38,11:g.46418013G>A",0.636,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -1011,947,R,I,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46418009-46418009","hg38,11:g.46418009C>A",0.580,lung,carcinoma,,,,,,,,,,,,,, -1012,948,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1013,949,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1014,950,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1015,951,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1016,952,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1017,953,S,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46417991-46417991","hg38,11:g.46417991G>C",0.389,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, -1018,954,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1019,955,R,H,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46439535-46439535, hg38,11:46417985-46417985","hg19,11:g.46439535C>T, hg38,11:g.46417985C>T",0.445,"large_intestine, colon, transverse","carcinoma, adenocarcinoma",,,,,4046048,Uncertain significance,not specified,1,,,,,, -1020,956,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1021,957,L,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46417979-46417979","hg38,11:g.46417979A>G",0.571,"central_nervous_system, brain","glioma, astrocytoma_Grade_III, anaplastic",,,,,,,,,,,,,, -1022,958,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1023,959,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46417972-46417972","hg38,11:g.46417972C>A",0.070,liver,carcinoma,,,,,,,,,,,,,, -1024,960,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1025,961,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1026,962,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1027,963,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1028,964,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1029,965,A,T,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46417956-46417956","hg38,11:g.46417956C>T",0.410,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1030,966,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1031,967,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1032,968,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1033,969,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1034,970,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1035,971,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1036,972,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1037,973,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1038,974,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1039,975,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1040,976,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1041,977,R,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46439469-46439469, hg38,11:46417919-46417919","hg19,11:g.46439469C>T, hg38,11:g.46417919C>T",0.454,,,,,,,4046017,Uncertain significance,not specified,1,,,,,, -1042,978,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1043,979,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1044,980,A,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46410366-46410366","hg38,11:g.46410366G>T",0.478,liver,"other, neoplasm",,,,,,,,,,,,,, -1045,981,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1046,982,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1047,983,S,F,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46431907-46431907, hg38,11:46410357-46410357","hg19,11:g.46431907G>A, hg38,11:g.46410357G>A",0.314,,,,,,,869206,Uncertain significance,Neural tube defect,0,,,,,, -1048,984,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1049,985,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1050,986,E,K,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46431899-46431899, hg38,11:46410349-46410349","hg19,11:g.46431899C>T, hg38,11:g.46410349C>T",0.462,,,,,,,3114832,Uncertain significance,not specified,1,,,,,, -1051,987,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1052,988,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1053,989,W,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46410338-46410338","hg38,11:g.46410338C>A",0.489,skin,malignant_melanoma,,,,,,,,,,,,,, -1054,989,W,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46410339-46410339","hg38,11:g.46410339C>A",0.427,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1055,990,D,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46410336-46410336","hg38,11:g.46410336T>C",0.375,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1056,991,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1057,992,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1058,993,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1059,994,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1060,995,T,M,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46431871-46431871, hg38,11:46410321-46410321","hg19,11:g.46431871G>A, hg38,11:g.46410321G>A",0.199,"skin, mucosal, anorectal",malignant_melanoma,,,,,2636716,Uncertain significance,AMBRA1-related disorder,1,,,,,, -1061,996,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1062,997,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1063,998,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1064,999,V,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46431860-46431860, hg38,11:46410310-46410310","hg19,11:g.46431860C>T, hg38,11:g.46410310C>T",0.072,,,,,,,2540529,Uncertain significance,not specified,1,,,,,, -1065,1000,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1066,1001,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1067,1002,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1068,1003,S,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46410297-46410297","hg38,11:g.46410297C>T",0.128,"skin, head_neck","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, -1069,1003,S,T,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46431847-46431847, hg38,11:46410297-46410297","hg19,11:g.46431847C>G, hg38,11:g.46410297C>G",0.092,,,,,,,2517107,Uncertain significance,not specified,1,,,,,, -1070,1004,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1071,1005,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1072,1006,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1073,1007,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1074,1008,R,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46431832-46431832, hg38,11:46410282-46410282","hg19,11:g.46431832C>T, hg38,11:g.46410282C>T",0.231,,,,,,,3114845,Uncertain significance,not specified,1,,,,,, -1075,1008,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46410283-46410283","hg38,11:g.46410283G>A",0.399,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1076,1009,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1077,1010,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1078,1011,T,I,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46430254-46430254, hg38,11:46408704-46408704","hg19,11:g.46430254G>A, hg38,11:g.46408704G>A",0.198,,,,,,,3860339,Uncertain significance,not specified,1,,,,,, -1079,1012,S,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46408701-46408701","hg38,11:g.46408701C>T",0.128,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -1080,1013,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1081,1014,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1082,1015,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1083,1016,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1084,1017,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1085,1018,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1086,1019,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1087,1020,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1088,1021,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1089,1022,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1090,1023,G,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46430218-46430218, hg38,11:46408668-46408668","hg19,11:g.46430218C>A, hg38,11:g.46408668C>A",0.704,,,,,,,4090665,Uncertain significance,not specified,1,,,,,, -1091,1023,G,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408669-46408669","hg38,11:g.46408669C>A",0.702,skin,malignant_melanoma,,,,,,,,,,,,,, -1092,1024,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1093,1025,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1094,1026,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1095,1027,A,V,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408656-46408656","hg38,11:g.46408656G>A",0.419,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1096,1028,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1097,1029,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1098,1030,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408648-46408648","hg38,11:g.46408648G>A",0.535,breast,carcinoma,,,,,,,,,,,,,, -1099,1031,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1100,1032,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1101,1033,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408638-46408638","hg38,11:g.46408638C>T",0.085,"skin, ear","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1102,1033,R,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408639-46408639","hg38,11:g.46408639G>A",0.413,liver,"other, neoplasm",,,,,,,,,,,,,, -1103,1034,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1104,1035,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408633-46408633","hg38,11:g.46408633G>A",0.426,"haematopoietic_and_lymphoid_tissue, mediastinum","lymphoid_neoplasm, primary_mediastinal_diffuse_large_B_cell_lymphoma",,,,,,,,,,,,,, -1105,1036,A,T,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46430180-46430180, hg38,11:46408630-46408630","hg19,11:g.46430180C>T, hg38,11:g.46408630C>T",0.082,,,,,,,2221144,Likely benign,not specified,1,,,,,, -1106,1037,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1107,1038,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1108,1039,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1109,1040,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1110,1041,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1111,1042,Q,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408611-46408611","hg38,11:g.46408611T>G",0.433,parathyroid,carcinoma,,,,,,,,,,,,,, -1112,1043,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1113,1044,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1114,1045,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1115,1046,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1116,1047,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1117,1048,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1118,1049,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1119,1050,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1120,1051,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1121,1052,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1122,1053,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1123,1054,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1124,1055,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1125,1056,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1126,1057,Q,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408567-46408567","hg38,11:g.46408567G>T",0.422,liver,"other, neoplasm",,,,,,,,,,,,,, -1127,1058,T,I,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46408563-46408563","hg38,11:g.46408563G>A",0.427,"large_intestine, large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1128,1059,E,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408561-46408561","hg38,11:g.46408561C>G",0.312,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1129,1060,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1130,1061,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1131,1062,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408552-46408552","hg38,11:g.46408552C>T",0.092,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1132,1063,P,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408549-46408549","hg38,11:g.46408549G>A",0.080,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1133,1064,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408544-46408544","hg38,11:g.46408544C>A",0.290,"lung, middle_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1134,1065,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408542-46408542","hg38,11:g.46408542G>A",0.068,"skin, skin, lower_leg",malignant_melanoma,,,,,,,,,,,,,, -1135,1066,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1136,1067,T,A,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46430087-46430087, hg38,11:46408537-46408537","hg19,11:g.46430087T>C, hg38,11:g.46408537T>C",0.043,,,,,,,3860414,Likely benign,not specified,1,,,,,, -1137,1068,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1138,1069,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1139,1070,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1140,1071,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1141,1072,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408521-46408521","hg38,11:g.46408521G>A",0.113,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1142,1073,G,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46408518-46408518","hg38,11:g.46408518C>T",0.098,skin,"malignant_melanoma, nodular",,,,,,,,,,,,,, -1143,1074,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1144,1075,G,D,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419493-46419493, hg38,11:46397943-46397943","hg19,11:g.46419493C>T, hg38,11:g.46397943C>T",0.206,,,,,,,3114849,Uncertain significance,not specified,1,,,,,, -1145,1076,E,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397941-46397941","hg38,11:g.46397941C>T",0.176,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1146,1077,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1147,1078,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1148,1079,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1149,1080,Y,C,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397928-46397928","hg38,11:g.46397928T>C",0.194,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1150,1081,G,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397926-46397926","hg38,11:g.46397926C>A",0.297,skin,malignant_melanoma,,,,,,,,,,,,,, -1151,1082,A,V,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46419472-46419472, hg38,11:46397922-46397922","hg19,11:g.46419472G>A, hg38,11:g.46397922G>A",0.105,liver,"other, neoplasm",,,,,4640160,Uncertain significance,not specified,1,,,,,, -1152,1083,S,C,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397920-46397920","hg38,11:g.46397920T>A",0.210,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, -1153,1083,S,G,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46419470-46419470, hg38,11:46397920-46397920","hg19,11:g.46419470T>C, hg38,11:g.46397920T>C",0.095,,,,,,,4090683,Likely benign,not specified,1,,,,,, -1154,1084,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1155,1085,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1156,1086,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1157,1087,A,G,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419457-46419457, hg38,11:46397907-46397907","hg19,11:g.46419457G>C, hg38,11:g.46397907G>C",0.344,,,,,,,3534747,Uncertain significance,not specified,1,,,,,, -1158,1087,A,V,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419457-46419457, hg38,11:46397907-46397907","hg19,11:g.46419457G>A, hg38,11:g.46397907G>A",0.358,,,,,,,3114852,Uncertain significance,not specified,1,,,,,, -1159,1088,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1160,1089,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1161,1090,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1162,1091,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1163,1092,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1164,1093,R,K,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419439-46419439, hg38,11:46397889-46397889","hg19,11:g.46419439C>T, hg38,11:g.46397889C>T",0.528,,,,,,,2275458,Uncertain significance,not specified,1,,,,,, -1165,1094,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1166,1095,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1167,1096,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1168,1097,E,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397877-46397877","hg38,11:g.46397877T>C",0.441,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1169,1098,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1170,1099,G,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397872-46397872","hg38,11:g.46397872C>T",0.718,stomach,carcinoma,,,,,,,,,,,,,, -1171,1100,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1172,1101,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1173,1102,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1174,1103,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397860-46397860","hg38,11:g.46397860C>T",0.434,"large_intestine, colon, descending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1175,1104,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1176,1105,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1177,1106,R,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397850-46397850","hg38,11:g.46397850C>A",0.623,skin,malignant_melanoma,,,,,,,,,,,,,, -1178,1106,R,W,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419401-46419401, hg38,11:46397851-46397851","hg19,11:g.46419401G>A, hg38,11:g.46397851G>A",0.550,,,,,,,4090596,Uncertain significance,not specified,1,,,,,, -1179,1107,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1180,1108,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1181,1109,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1182,1110,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1183,1111,T,N,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397835-46397835","hg38,11:g.46397835G>T",0.335,liver,carcinoma,,,,,,,,,,,,,, -1184,1112,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1185,1113,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1186,1114,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1187,1115,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1188,1116,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1189,1117,G,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419368-46419368, hg38,11:46397818-46397818","hg19,11:g.46419368C>T, hg38,11:g.46397818C>T",0.410,,,,,,,4090566,Uncertain significance,not specified,1,,,,,, -1190,1118,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1191,1119,G,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397812-46397812","hg38,11:g.46397812C>T",0.580,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1192,1120,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1193,1121,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1194,1122,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1195,1123,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1196,1124,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1197,1125,S,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397793-46397793","hg38,11:g.46397793C>T",0.399,skin,malignant_melanoma,,,,,,,,,,,,,, -1198,1126,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1199,1127,R,C,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419338-46419338, hg38,11:46397788-46397788","hg19,11:g.46419338G>A, hg38,11:g.46397788G>A",0.624,,,,,,,4090632,Uncertain significance,not specified,1,,,,,, -1200,1127,R,H,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397787-46397787","hg38,11:g.46397787C>T",0.508,stomach,carcinoma,,,,,,,,,,,,,, -1201,1127,R,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419337-46419337, hg38,11:46397787-46397787","hg19,11:g.46419337C>A, hg38,11:g.46397787C>A",0.651,,,,,,,4046072,Uncertain significance,not specified,1,,,,,, -1202,1128,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1203,1129,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1204,1130,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1205,1131,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1206,1132,S,A,P,,,,,,,,,,NetPhos,,,ClinVar,,,"hg19,11:46419323-46419323, hg38,11:46397773-46397773","hg19,11:g.46419323A>C, hg38,11:g.46397773A>C",0.335,,,,,,,2331452,Uncertain significance,not specified,1,,,,,, -1207,1133,Q,E,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397770-46397770","hg38,11:g.46397770G>C",0.392,breast,"carcinoma, ductal_carcinoma",,,,,,,,,,,,,, -1208,1134,T,M,P,,,,,,,,,,NetPhos,,,"COSMIC,ClinVar",,,"hg19,11:46419316-46419316, hg38,11:46397766-46397766","hg19,11:g.46419316G>A, hg38,11:g.46397766G>A",0.437,"large_intestine, caecum, stomach","carcinoma, adenocarcinoma",,,,,3534741,Uncertain significance,not specified,1,,,,,, -1209,1135,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1210,1136,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1211,1137,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1212,1138,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1213,1139,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1214,1140,A,S,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397749-46397749","hg38,11:g.46397749C>A",0.113,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1215,1141,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1216,1142,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1217,1143,T,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397739-46397739","hg38,11:g.46397739G>T",0.100,breast,carcinoma,,,,,,,,,,,,,, -1218,1144,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397736-46397736","hg38,11:g.46397736G>A",0.074,skin,malignant_melanoma,,,,,,,,,,,,,, -1219,1145,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1220,1146,P,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419280-46419280, hg38,11:46397730-46397730","hg19,11:g.46419280G>A, hg38,11:g.46397730G>A",0.171,,,,,,,2214651,Uncertain significance,not specified,1,,,,,, -1221,1147,Q,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397727-46397727","hg38,11:g.46397727T>C",0.150,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1222,1148,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1223,1149,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1224,1150,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1225,1151,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1226,1152,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1227,1153,G,E,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419259-46419259, hg38,11:46397709-46397709","hg19,11:g.46419259C>T, hg38,11:g.46397709C>T",0.045,,,,,,,2589176,Uncertain significance,not specified,1,,,,,, -1228,1154,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1229,1155,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1230,1156,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1231,1157,E,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397696-46397696","hg38,11:g.46397696C>A",0.177,"large_intestine, large_intestine, colon, upper_aerodigestive_tract, head_neck","carcinoma, carcinoma, adenocarcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1232,1158,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1233,1159,G,E,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397691-46397691","hg38,11:g.46397691C>T",0.055,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1234,1159,G,R,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397692-46397692","hg38,11:g.46397692C>T",0.096,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1235,1159,G,W,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397692-46397692","hg38,11:g.46397692C>A",0.147,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, -1236,1160,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1237,1161,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1238,1162,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1239,1163,E,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397679-46397679","hg38,11:g.46397679T>C",0.378,oesophagus,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1240,1164,R,Q,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46419226-46419226, hg38,11:46397676-46397676","hg19,11:g.46419226C>T, hg38,11:g.46397676C>T",0.127,cervix,"carcinoma, squamous_cell_carcinoma",,,,,3534680,Uncertain significance,not specified,1,,,,,, -1241,1165,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1242,1166,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1243,1167,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1244,1168,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1245,1169,R,Q,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419211-46419211, hg38,11:46397661-46397661","hg19,11:g.46419211C>T, hg38,11:g.46397661C>T",0.340,,,,,,,4046054,Uncertain significance,not specified,1,,,,,, -1246,1169,R,W,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419212-46419212, hg38,11:46397662-46397662","hg19,11:g.46419212G>A, hg38,11:g.46397662G>A",0.485,,,,,,,3114868,Uncertain significance,not specified,1,,,,,, -1247,1170,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1248,1171,A,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397656-46397656","hg38,11:g.46397656C>G",0.237,breast,carcinoma,,,,,,,,,,,,,, -1249,1172,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1250,1173,W,C,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397648-46397648","hg38,11:g.46397648C>A",0.213,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1251,1174,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1252,1175,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1253,1176,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1254,1177,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1255,1178,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1256,1179,P,L,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419181-46419181, hg38,11:46397631-46397631","hg19,11:g.46419181G>A, hg38,11:g.46397631G>A",0.091,,,,,,,3292343,Uncertain significance,not specified,1,,,,,, -1257,1180,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1258,1181,R,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397625-46397625","hg38,11:g.46397625C>T",0.059,"large_intestine, large_intestine, rectum","adenoma, tubular, high_grade_dysplasia, carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1259,1181,R,W,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46419176-46419176, hg38,11:46397626-46397626","hg19,11:g.46419176G>A, hg38,11:g.46397626G>A",0.212,"central_nervous_system, brain, endometrium, large_intestine, oesophagus, soft_tissue","carcinoma, adenocarcinoma, carcinoma, endometrioid_carcinoma, glioma, primitive_neuroectodermal_tumour-medulloblastoma, sarcoma",,,,,3534685,Uncertain significance,not specified,1,,,,,, -1260,1182,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1261,1183,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1262,1184,T,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -1263,1185,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1264,1186,P,Q,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397610-46397610","hg38,11:g.46397610G>T",0.138,skin,malignant_melanoma,,,,,,,,,,,,,, -1265,1187,T,I,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419157-46419157, hg38,11:46397607-46397607","hg19,11:g.46419157G>A, hg38,11:g.46397607G>A",0.188,,,,,,,4046028,Uncertain significance,not specified,1,,,,,, -1266,1188,L,M,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397605-46397605","hg38,11:g.46397605G>T",0.233,skin,malignant_melanoma,,,,,,,,,,,,,, -1267,1189,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1268,1190,S,Y,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397598-46397598","hg38,11:g.46397598G>T",0.092,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1269,1191,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397595-46397595","hg38,11:g.46397595G>A",0.244,"skin, trunk","malignant_melanoma, desmoplastic",,,,,,,,,,,,,, -1270,1192,S,F,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397592-46397592","hg38,11:g.46397592G>A",0.187,"skin, head_neck, skin, upper_arm","carcinoma, squamous_cell_carcinoma, malignant_melanoma, desmoplastic",,,,,,,,,,,,,, -1271,1193,P,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419140-46419140, hg38,11:46397590-46397590","hg19,11:g.46419140G>A, hg38,11:g.46397590G>A",0.091,,,,,,,2523012,Uncertain significance,not specified,1,,,,,, -1272,1194,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1273,1195,P,S,,,,,,,,,,,,,,"COSMIC,ClinVar",,,"hg19,11:46419134-46419134, hg38,11:46397584-46397584","hg19,11:g.46419134G>A, hg38,11:g.46397584G>A",0.059,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,4046092,Uncertain significance,not specified,1,,,,,, -1274,1196,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1275,1197,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1276,1198,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1277,1199,S,P,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419122-46419122, hg38,11:46397572-46397572","hg19,11:g.46419122A>G, hg38,11:g.46397572A>G",0.076,,,,,,,3534684,Likely benign,not specified,1,,,,,, -1278,1200,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1279,1201,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397565-46397565","hg38,11:g.46397565G>A",0.079,"endometrium, lung","carcinoma, endometrioid_carcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1280,1202,S,G,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397563-46397563","hg38,11:g.46397563T>C",0.089,"large_intestine, colon, transverse","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -1281,1203,A,P,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397560-46397560","hg38,11:g.46397560C>G",0.166,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -1282,1204,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1283,1205,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1284,1206,P,L,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397550-46397550","hg38,11:g.46397550G>A",0.445,"biliary_tract, gallbladder","carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, -1285,1207,T,N,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419097-46419097, hg38,11:46397547-46397547","hg19,11:g.46419097G>T, hg38,11:g.46397547G>T",0.153,,,,,,,2608803,Uncertain significance,not specified,1,,,,,, -1286,1208,L,H,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419094-46419094, hg38,11:46397544-46397544","hg19,11:g.46419094A>T, hg38,11:g.46397544A>T",0.080,,,,,,,4090689,Uncertain significance,not specified,1,,,,,, -1287,1209,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1288,1210,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1289,1211,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1290,1212,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1291,1213,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1292,1214,N,S,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419076-46419076, hg38,11:46397526-46397526","hg19,11:g.46419076T>C, hg38,11:g.46397526T>C",0.181,,,,,,,2389222,Likely benign,not specified,1,,,,,, -1293,1215,N,D,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397524-46397524","hg38,11:g.46397524T>C",0.127,skin,malignant_melanoma,,,,,,,,,,,,,, -1294,1216,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1295,1217,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1296,1218,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1297,1219,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1298,1220,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1299,1221,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1300,1222,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1301,1223,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1302,1224,S,N,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,11:46397496-46397496","hg38,11:g.46397496C>T",0.090,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -1303,1225,R,T,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419043-46419043, hg38,11:46397493-46397493","hg19,11:g.46419043C>G, hg38,11:g.46397493C>G",0.085,,,,,,,2458405,Uncertain significance,not specified,1,,,,,, -1304,1226,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1305,1227,D,G,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397487-46397487","hg38,11:g.46397487T>C",0.172,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, diffuse_large_B_cell_lymphoma",,,,,,,,,,,,,, -1306,1228,A,T,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419035-46419035, hg38,11:46397485-46397485","hg19,11:g.46419035C>T, hg38,11:g.46397485C>T",0.132,,,,,,,4090529,Uncertain significance,not specified,1,,,,,, -1307,1229,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1308,1230,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1309,1231,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1310,1232,R,G,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419023-46419023, hg38,11:46397473-46397473","hg19,11:g.46419023T>C, hg38,11:g.46397473T>C",0.067,,,,,,,2629998,Uncertain significance,AMBRA1-related disorder,1,,,,,, -1311,1232,R,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397472-46397472","hg38,11:g.46397472C>T",0.109,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -1312,1233,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1313,1234,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1314,1235,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1315,1236,R,W,,,,,,,,,,,,,,ClinVar,,,"hg19,11:46419011-46419011, hg38,11:46397461-46397461","hg19,11:g.46419011G>A, hg38,11:g.46397461G>A",0.269,,,,,,,3860349,Uncertain significance,not specified,1,,,,,, -1316,1237,N,K,,,,,,,,,,,,,,COSMIC,,,"hg38,11:46397456-46397456","hg38,11:g.46397456G>T",0.135,liver,"other, neoplasm",,,,,,,,,,,,,, -1317,1238,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +,aa_position,ref_aa,alt_aa,variant_hgvs,variant_start,variant_end,variant_type,sources,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,linear_motif,structure,ptm_sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status +0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1,2,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +2,3,V,D,p.Val3Asp,3.0,3.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548373-46548373","hg38,11:g.46548373A>T",0.373,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +3,3,V,L,p.Val3Leu,3.0,3.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548374-46548374","hg38,11:g.46548374C>G",0.261,"eye, uveal_tract","malignant_melanoma, spindle, B",,,,,,,,,,,,,, +4,4,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +5,5,P,L,p.Pro5Leu,5.0,5.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548367-46548367","hg38,11:g.46548367G>A",0.414,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +6,6,E,K,p.Glu6Lys,6.0,6.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548365-46548365","hg38,11:g.46548365C>T",0.340,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +7,7,K,Q,p.Lys7Gln,7.0,7.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569912-46569912, hg38,11:46548362-46548362","hg19,11:g.46569912T>G, hg38,11:g.46548362T>G",0.392,,,,,,,4090636,Uncertain significance,not specified,1,,,,,, +8,8,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +9,9,A,T,p.Ala9Thr,9.0,9.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548356-46548356","hg38,11:g.46548356C>T",0.250,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +10,10,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +11,11,R,Q,p.Arg11Gln,11.0,11.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569899-46569899, hg38,11:46548349-46548349","hg19,11:g.46569899C>T, hg38,11:g.46548349C>T",0.373,,,,,,,2298372,Uncertain significance,not specified,1,,,,,, +12,11,R,W,p.Arg11Trp,11.0,11.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548350-46548350","hg38,11:g.46548350G>A",0.619,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +13,12,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +14,13,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +15,14,W,C,p.Trp14Cys,14.0,14.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548339-46548339","hg38,11:g.46548339C>A",0.441,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +16,15,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +17,16,R,Q,p.Arg16Gln,16.0,16.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548334-46548334","hg38,11:g.46548334C>T",0.568,stomach,carcinoma,,,,,,,,,,,,,, +18,17,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +19,18,R,Q,p.Arg18Gln,18.0,18.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46569878-46569878, hg38,11:46548328-46548328","hg19,11:g.46569878C>T, hg38,11:g.46548328C>T",0.286,stomach,"carcinoma, adenocarcinoma",,,,,3860390,Uncertain significance,not specified,1,,,,,, +20,18,R,W,p.Arg18Trp,18.0,18.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46569879-46569879, hg38,11:46548329-46548329","hg19,11:g.46569879G>A, hg38,11:g.46548329G>A",0.516,endometrium,"carcinoma, endometrioid_carcinoma",,,,,3534690,Uncertain significance,not specified,1,,,,,, +21,19,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +22,20,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +23,21,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +24,22,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +25,23,M,V,p.Met23Val,23.0,23.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569864-46569864, hg38,11:46548314-46548314","hg19,11:g.46569864T>C, hg38,11:g.46548314T>C",0.032,,,,,,,2558800,Uncertain significance,not specified,1,,,,,, +26,24,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +27,25,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +28,26,Q,R,p.Gln26Arg,26.0,26.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548304-46548304","hg38,11:g.46548304T>C",0.434,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +29,27,R,Q,p.Arg27Gln,27.0,27.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569851-46569851, hg38,11:46548301-46548301","hg19,11:g.46569851C>T, hg38,11:g.46548301C>T",0.391,,,,,,,2345873,Uncertain significance,not specified,1,,,,,, +30,27,R,W,p.Arg27Trp,27.0,27.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548302-46548302","hg38,11:g.46548302G>A",0.625,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +31,28,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +32,29,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +33,30,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +34,31,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +35,32,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +36,33,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +37,34,E,D,p.Glu34Asp,34.0,34.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548279-46548279","hg38,11:g.46548279T>A",0.438,prostate,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +38,35,D,H,p.Asp35His,35.0,35.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548278-46548278","hg38,11:g.46548278C>G",0.509,cervix,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +39,36,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +40,37,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +41,38,R,Q,p.Arg38Gln,38.0,38.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46569818-46569818, hg38,11:46548268-46548268","hg19,11:g.46569818C>T, hg38,11:g.46548268C>T",0.386,endometrium,"carcinoma, endometrioid_carcinoma",,,,,4046062,Uncertain significance,not specified,1,,,,,, +42,38,R,W,p.Arg38Trp,38.0,38.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548269-46548269","hg38,11:g.46548269G>A",0.465,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +43,39,W,C,p.Trp39Cys,39.0,39.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548264-46548264","hg38,11:g.46548264C>A",0.419,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, Hodgkin_lymphoma, nodular_sclerosing",,,,,,,,,,,,,, +44,40,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +45,41,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +46,42,W,C,p.Trp42Cys,42.0,42.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569805-46569805, hg38,11:46548255-46548255","hg19,11:g.46569805C>A, hg38,11:g.46548255C>A",0.464,,,,,,,4371838,,,,,,,,, +47,43,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +48,44,G,D,p.Gly44Asp,44.0,44.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548250-46548250","hg38,11:g.46548250C>T",0.453,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +49,45,K,E,p.Lys45Glu,45.0,45.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46569798-46569798, hg38,11:46548248-46548248","hg19,11:g.46569798T>C, hg38,11:g.46548248T>C",0.310,,,,,,,3534725,Uncertain significance,not specified,1,,,,,, +50,45,K,N,p.Lys45Asn,45.0,45.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46548246-46548246","hg38,11:g.46548246C>A",0.171,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +51,46,R,K,p.Arg46Lys,46.0,46.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547874-46547874","hg38,11:g.46547874C>T",0.122,lung,"carcinoma, non_small_cell_carcinoma",,,,,,,,,,,,,, +52,47,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +53,48,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +54,49,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +55,50,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +56,51,D,N,p.Asp51Asn,51.0,51.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547860-46547860","hg38,11:g.46547860C>T",0.277,"skin, ear",malignant_melanoma,,,,,,,,,,,,,, +57,52,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +58,53,P,A,p.Pro53Ala,53.0,53.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547854-46547854","hg38,11:g.46547854G>C",0.433,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +59,54,R,C,p.Arg54Cys,54.0,54.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46569401-46569401, hg38,11:46547851-46547851","hg19,11:g.46569401G>A, hg38,11:g.46547851G>A",0.607,"urinary_tract, bladder",carcinoma,,,,,4640162,Uncertain significance,not specified,1,,,,,, +60,54,R,H,p.Arg54His,54.0,54.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547850-46547850","hg38,11:g.46547850C>T",0.542,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +61,55,S,Y,p.Ser55Tyr,55.0,55.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46547847-46547847","hg38,11:g.46547847G>T",0.575,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, +62,56,T,A,p.Thr56Ala,56.0,56.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547845-46547845","hg38,11:g.46547845T>C",0.516,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +63,57,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +64,58,L,V,p.Leu58Val,58.0,58.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547839-46547839","hg38,11:g.46547839A>C",0.255,pleura,"mesothelioma, epithelial",,,,,,,,,,,,,, +65,59,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +66,60,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +67,61,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +68,62,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +69,63,P,L,p.Pro63Leu,63.0,63.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547823-46547823","hg38,11:g.46547823G>A",0.587,"biliary_tract, gallbladder","carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +70,63,P,S,p.Pro63Ser,63.0,63.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547824-46547824","hg38,11:g.46547824G>A",0.553,skin,malignant_melanoma,,,,,,,,,,,,,, +71,64,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +72,65,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +73,66,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +74,67,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +75,68,L,F,p.Leu68Phe,68.0,68.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46568837-46568837, hg38,11:46547287-46547287","hg19,11:g.46568837T>G, hg38,11:g.46547287T>G",0.198,,,,,,,4090675,Uncertain significance,not specified,1,,,,,, +76,69,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +77,70,S,C,p.Ser70Cys,70.0,70.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46547282-46547282","hg38,11:g.46547282G>C",0.710,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +78,70,S,T,p.Ser70Thr,70.0,70.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46568833-46568833, hg38,11:46547283-46547283","hg19,11:g.46568833A>T, hg38,11:g.46547283A>T",0.286,,,,,,,4640153,Uncertain significance,not specified,1,,,,,, +79,71,T,S,p.Thr71Ser,71.0,71.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547280-46547280","hg38,11:g.46547280T>A",0.278,skin,malignant_melanoma,,,,,,,,,,,,,, +80,72,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +81,73,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +82,74,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +83,75,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +84,76,N,T,p.Asn76Thr,76.0,76.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547264-46547264","hg38,11:g.46547264T>G",0.384,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +85,77,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +86,78,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +87,79,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +88,80,T,M,p.Thr80Met,80.0,80.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46568802-46568802, hg38,11:46547252-46547252","hg19,11:g.46568802G>A, hg38,11:g.46547252G>A",0.563,"biliary_tract, gallbladder, urinary_tract, bladder","carcinoma, small_cell_carcinoma, carcinoma, transitional_cell_carcinoma",,,,,869202,Uncertain significance,Neural tube defect,0,,,,,, +89,81,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +90,82,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +91,83,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +92,84,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +93,85,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +94,86,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +95,87,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +96,88,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +97,89,H,N,p.His89Asn,89.0,89.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46568776-46568776, hg38,11:46547226-46547226","hg19,11:g.46568776G>T, hg38,11:g.46547226G>T",0.268,,,,,,,3860365,Uncertain significance,not specified,1,,,,,, +98,90,S,F,p.Ser90Phe,90.0,90.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46547222-46547222","hg38,11:g.46547222G>A",0.633,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, +99,91,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +100,92,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +101,93,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +102,94,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +103,95,R,C,p.Arg95Cys,95.0,95.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46568758-46568758, hg38,11:46547208-46547208","hg19,11:g.46568758G>A, hg38,11:g.46547208G>A",0.403,,,,,,,4090621,Uncertain significance,not specified,1,,,,,, +104,95,R,H,p.Arg95His,95.0,95.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46568757-46568757, hg38,11:46547207-46547207","hg19,11:g.46568757C>T, hg38,11:g.46547207C>T",0.204,"endometrium, large_intestine, colon, transverse","adenoma, tubulovillous, carcinoma, adenocarcinoma, carcinoma, endometrioid_carcinoma, hyperplasia, atypical",,,,,2220299,Uncertain significance,not specified,1,,,,,, +105,96,R,C,p.Arg96Cys,96.0,96.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547205-46547205","hg38,11:g.46547205G>A",0.492,"haematopoietic_and_lymphoid_tissue, central_nervous_system, stomach","carcinoma, lymphoid_neoplasm, primary_central_nervous_system_lymphoma",,,,,,,,,,,,,, +106,96,R,L,p.Arg96Leu,96.0,96.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547204-46547204","hg38,11:g.46547204C>A",0.622,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +107,97,T,I,p.Thr97Ile,97.0,97.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46547201-46547201","hg38,11:g.46547201G>A",0.548,,malignant_melanoma,,,,,,,,,,,,,, +108,98,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +109,99,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +110,100,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +111,101,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +112,102,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +113,103,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +114,104,H,Y,p.His104Tyr,104.0,104.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547181-46547181","hg38,11:g.46547181G>A",0.658,"central_nervous_system, frontal_lobe","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +115,105,P,L,p.Pro105Leu,105.0,105.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547177-46547177","hg38,11:g.46547177G>A",0.752,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +116,105,P,S,p.Pro105Ser,105.0,105.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46568728-46568728, hg38,11:46547178-46547178","hg19,11:g.46568728G>A, hg38,11:g.46547178G>A",0.699,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,4640157,Uncertain significance,not specified,1,,,,,, +117,106,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +118,107,I,L,p.Ile107Leu,107.0,107.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547172-46547172","hg38,11:g.46547172T>G",0.280,liver,carcinoma,,,,,,,,,,,,,, +119,107,I,V,p.Ile107Val,107.0,107.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547172-46547172","hg38,11:g.46547172T>C",0.247,"liver, lung","carcinoma, adenocarcinoma, carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +120,108,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +121,109,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +122,110,L,F,p.Leu110Phe,110.0,110.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547163-46547163","hg38,11:g.46547163G>A",0.421,skin,malignant_melanoma,,,,,,,,,,,,,, +123,110,L,R,p.Leu110Arg,110.0,110.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547162-46547162","hg38,11:g.46547162A>C",0.684,pancreas,"carcinoma, ductal_carcinoma",,,,,,,,,,,,,, +124,111,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +125,112,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +126,113,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +127,114,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +128,115,C,F,p.Cys115Phe,115.0,115.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547147-46547147","hg38,11:g.46547147C>A",0.634,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +129,116,L,P,p.Leu116Pro,116.0,116.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547144-46547144","hg38,11:g.46547144A>G",0.681,"haematopoietic_and_lymphoid_tissue, lymph_node, urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma, lymphoid_neoplasm, Hodgkin_lymphoma, nodular_sclerosing",,,,,,,,,,,,,, +130,117,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +131,118,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +132,119,E,K,p.Glu119Lys,119.0,119.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547136-46547136","hg38,11:g.46547136C>T",0.450,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +133,120,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +134,121,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +135,122,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +136,123,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +137,124,D,Y,p.Asp124Tyr,124.0,124.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46547121-46547121","hg38,11:g.46547121C>A",0.669,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +138,125,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +139,126,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +140,127,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +141,128,G,V,p.Gly128Val,128.0,128.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545772-46545772","hg38,11:g.46545772C>A",0.633,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, +142,129,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +143,130,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +144,131,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +145,132,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +146,133,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +147,134,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +148,135,D,Y,p.Asp135Tyr,135.0,135.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545752-46545752","hg38,11:g.46545752C>A",0.517,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +149,136,S,R,p.Ser136Arg,136.0,136.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545747-46545747","hg38,11:g.46545747G>C",0.337,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +150,137,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +151,138,N,S,p.Asn138Ser,138.0,138.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46567292-46567292, hg38,11:46545742-46545742","hg19,11:g.46567292T>C, hg38,11:g.46545742T>C",0.102,,,,,,,3114887,Uncertain significance,not specified,1,,,,,, +152,139,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +153,140,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +154,141,A,V,p.Ala141Val,141.0,141.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46567283-46567283, hg38,11:46545733-46545733","hg19,11:g.46567283G>A, hg38,11:g.46545733G>A",0.499,,,,,,,3346128,Uncertain significance,AMBRA1-related disorder,0,,,,,, +155,142,S,C,p.Ser142Cys,142.0,142.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46567280-46567280, hg38,11:46545730-46545730","hg19,11:g.46567280G>C, hg38,11:g.46545730G>C",0.452,,,,,,,3292364,Uncertain significance,not specified,1,,,,,, +156,142,S,F,p.Ser142Phe,142.0,142.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46545730-46545730","hg38,11:g.46545730G>A",0.649,"skin, skin, face","carcinoma, basal_cell_carcinoma, carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, +157,143,L,M,p.Leu143Met,143.0,143.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545728-46545728","hg38,11:g.46545728G>T",0.375,"central_nervous_system, brain",glioma,,,,,,,,,,,,,, +158,143,L,V,p.Leu143Val,143.0,143.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545728-46545728","hg38,11:g.46545728G>C",0.312,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +159,144,A,V,p.Ala144Val,144.0,144.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46567274-46567274, hg38,11:46545724-46545724","hg19,11:g.46567274G>A, hg38,11:g.46545724G>A",0.563,,,,,,,691340,Uncertain significance,Esophageal atresia,0,,,,,, +160,145,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +161,146,H,P,p.His146Pro,146.0,146.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545718-46545718","hg38,11:g.46545718T>G",0.767,breast,carcinoma,,,,,,,,,,,,,, +162,147,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +163,148,T,M,p.Thr148Met,148.0,148.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46567262-46567262, hg38,11:46545712-46545712","hg19,11:g.46567262G>A, hg38,11:g.46545712G>A",0.580,prostate,"carcinoma, adenocarcinoma",,,,,4640149,Uncertain significance,not specified,1,,,,,, +164,149,A,D,p.Ala149Asp,149.0,149.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545709-46545709","hg38,11:g.46545709G>T",0.256,skin,malignant_melanoma,,,,,,,,,,,,,, +165,150,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +166,151,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +167,152,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +168,153,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +169,154,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +170,155,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +171,156,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +172,157,A,V,p.Ala157Val,157.0,157.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545685-46545685","hg38,11:g.46545685G>A",0.251,"large_intestine, skin","carcinoma, adenocarcinoma, malignant_melanoma",,,,,,,,,,,,,, +173,158,N,D,p.Asn158Asp,158.0,158.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46567233-46567233, hg38,11:46545683-46545683","hg19,11:g.46567233T>C, hg38,11:g.46545683T>C",0.151,,,,,,,2595914,Uncertain significance,not specified,1,,,,,, +174,158,N,S,p.Asn158Ser,158.0,158.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46567232-46567232, hg38,11:46545682-46545682","hg19,11:g.46567232T>C, hg38,11:g.46545682T>C",0.097,,,,,,,2285400,Uncertain significance,not specified,1,,,,,, +175,159,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +176,160,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +177,161,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +178,162,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +179,163,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +180,164,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +181,165,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +182,166,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +183,167,R,Q,p.Arg167Gln,167.0,167.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545655-46545655","hg38,11:g.46545655C>T",0.378,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +184,168,R,W,p.Arg168Trp,168.0,168.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46567203-46567203, hg38,11:46545653-46545653","hg19,11:g.46567203G>A, hg38,11:g.46545653G>A",0.338,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,3292323,Uncertain significance,not specified,1,,,,,, +185,169,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +186,170,P,S,p.Pro170Ser,170.0,170.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545647-46545647","hg38,11:g.46545647G>A",0.496,skin,malignant_melanoma,,,,,,,,,,,,,, +187,171,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +188,172,A,D,p.Ala172Asp,172.0,172.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545640-46545640","hg38,11:g.46545640G>T",0.213,liver,"other, neoplasm",,,,,,,,,,,,,, +189,172,A,V,p.Ala172Val,172.0,172.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545640-46545640","hg38,11:g.46545640G>A",0.035,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +190,173,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +191,174,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +192,175,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +193,176,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +194,177,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +195,178,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +196,179,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +197,180,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +198,181,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +199,182,R,Q,p.Arg182Gln,182.0,182.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545610-46545610","hg38,11:g.46545610C>T",0.293,breast,"carcinoma, basal_(triple-negative)_carcinoma",,,,,,,,,,,,,, +200,183,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +201,184,R,C,p.Arg184Cys,184.0,184.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46545605-46545606","hg38,11:g.46545605_46545606delinsAA",,"skin, lip",malignant_melanoma,,,,,,,,,,,,,, +202,185,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +203,186,V,M,p.Val186Met,186.0,186.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46544037-46544037","hg38,11:g.46544037C>T",0.437,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +204,187,R,S,p.Arg187Ser,187.0,187.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46544032-46544032","hg38,11:g.46544032T>A",0.378,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +205,188,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +206,189,D,Y,p.Asp189Tyr,189.0,189.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46544028-46544028","hg38,11:g.46544028C>A",0.604,"skin, extremity","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, +207,190,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +208,191,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +209,192,G,V,p.Gly192Val,192.0,192.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46544018-46544018","hg38,11:g.46544018C>A",0.669,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +210,193,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +211,194,Y,H,p.Tyr194His,194.0,194.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46544013-46544013","hg38,11:g.46544013A>G",0.241,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +212,195,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +213,196,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +214,197,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +215,198,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +216,199,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +217,200,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +218,201,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +219,202,P,L,p.Pro202Leu,202.0,202.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543988-46543988","hg38,11:g.46543988G>A",0.430,skin,"malignant_melanoma, amelanotic",,,,,,,,,,,,,, +220,203,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +221,204,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +222,205,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +223,206,Q,H,p.Gln206His,206.0,206.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46565525-46565525, hg38,11:46543975-46543975","hg19,11:g.46565525C>G, hg38,11:g.46543975C>G",0.512,,,,,,,4371832,,,,,,,,, +224,206,Q,K,p.Gln206Lys,206.0,206.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543977-46543977","hg38,11:g.46543977G>T",0.487,liver,"other, neoplasm",,,,,,,,,,,,,, +225,207,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +226,208,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +227,209,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +228,210,E,K,p.Glu210Lys,210.0,210.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543389-46543389","hg38,11:g.46543389C>T",0.301,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +229,211,P,A,p.Pro211Ala,211.0,211.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564936-46564936, hg38,11:46543386-46543386","hg19,11:g.46564936G>C, hg38,11:g.46543386G>C",0.036,,,,,,,3534714,Uncertain significance,not specified,1,,,,,, +230,212,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +231,213,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +232,214,P,L,p.Pro214Leu,214.0,214.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564926-46564926, hg38,11:46543376-46543376","hg19,11:g.46564926G>A, hg38,11:g.46543376G>A",0.368,,,,,,,3534739,Uncertain significance,not specified,1,,,,,, +233,214,P,S,p.Pro214Ser,214.0,214.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543377-46543377","hg38,11:g.46543377G>A",0.124,"skin, skin, head_neck, skin, trunk","malignant_melanoma, malignant_melanoma, nodular",,,,,,,,,,,,,, +234,215,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +235,216,D,H,p.Asp216His,216.0,216.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543371-46543371","hg38,11:g.46543371C>G",0.403,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +236,216,D,N,p.Asp216Asn,216.0,216.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543371-46543371","hg38,11:g.46543371C>T",0.224,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +237,217,G,V,p.Gly217Val,217.0,217.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543367-46543367","hg38,11:g.46543367C>A",0.200,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +238,218,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +239,219,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +240,220,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +241,221,S,Y,p.Ser221Tyr,221.0,221.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564905-46564905, hg38,11:46543355-46543355","hg19,11:g.46564905G>T, hg38,11:g.46543355G>T",0.151,,,,,,,2468515,Uncertain significance,not specified,1,,,,,, +242,222,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +243,223,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +244,224,R,H,p.Arg224His,224.0,224.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543346-46543346","hg38,11:g.46543346C>T",0.477,"soft_tissue, fibrous_tissue_and_uncertain_origin, gastrointestinal_tract_(site_indeterminate), stomach","carcinoma, adenocarcinoma, gastrointestinal_stromal_tumour",,,,,,,,,,,,,, +245,224,R,S,p.Arg224Ser,224.0,224.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543347-46543347","hg38,11:g.46543347G>T",0.528,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +246,225,Q,H,p.Gln225His,225.0,225.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543342-46543342","hg38,11:g.46543342C>A",0.277,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +247,226,R,C,p.Arg226Cys,226.0,226.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543341-46543341","hg38,11:g.46543341G>A",0.620,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +248,226,R,H,p.Arg226His,226.0,226.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46564890-46564890, hg38,11:46543340-46543340","hg19,11:g.46564890C>T, hg38,11:g.46543340C>T",0.458,ovary,"carcinoma, serous_carcinoma",,,,,4090603,Uncertain significance,not specified,1,,,,,, +249,227,A,T,p.Ala227Thr,227.0,227.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543338-46543338","hg38,11:g.46543338C>T",0.056,,malignant_melanoma,,,,,,,,,,,,,, +250,227,A,V,p.Ala227Val,227.0,227.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543336-46543337","hg38,11:g.46543336_46543337delinsAA",,"skin, lower_extremity","carcinoma, Merkel_cell_carcinoma",,,,,,,,,,,,,, +251,228,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +252,229,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +253,230,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +254,231,S,L,p.Ser231Leu,231.0,231.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543325-46543325","hg38,11:g.46543325G>A",0.366,skin,malignant_melanoma,,,,,,,,,,,,,, +255,232,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +256,233,P,A,p.Pro233Ala,233.0,233.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543320-46543320","hg38,11:g.46543320G>C",0.359,"biliary_tract, bile_duct",carcinoma,,,,,,,,,,,,,, +257,234,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +258,235,R,H,p.Arg235His,235.0,235.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543313-46543313","hg38,11:g.46543313C>T",0.453,stomach,"carcinoma, adenocarcinoma, carcinoma, intestinal_adenocarcinoma",,,,,,,,,,,,,, +259,236,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +260,237,T,M,p.Thr237Met,237.0,237.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543307-46543307","hg38,11:g.46543307G>A",0.534,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +261,238,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +262,239,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +263,240,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +264,241,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +265,242,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +266,243,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +267,244,L,V,p.Leu244Val,244.0,244.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564837-46564837, hg38,11:46543287-46543287","hg19,11:g.46564837G>C, hg38,11:g.46543287G>C",0.244,,,,,,,4640167,Uncertain significance,not specified,1,,,,,, +268,245,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +269,246,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +270,247,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +271,248,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +272,249,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +273,250,R,C,p.Arg250Cys,250.0,250.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46564819-46564819, hg38,11:46543269-46543269","hg19,11:g.46564819G>A, hg38,11:g.46543269G>A",0.498,"large_intestine, colon, right","carcinoma, adenocarcinoma",,,,,4045991,Uncertain significance,not specified,1,,,,,, +274,251,S,F,p.Ser251Phe,251.0,251.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543265-46543265","hg38,11:g.46543265G>A",0.332,skin,malignant_melanoma,,,,,,,,,,,,,, +275,252,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +276,253,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +277,254,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +278,255,Q,H,p.Gln255His,255.0,255.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543252-46543252","hg38,11:g.46543252C>A",0.234,oesophagus,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +279,256,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +280,257,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +281,258,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +282,259,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +283,260,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +284,261,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +285,262,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +286,263,Q,H,p.Gln263His,263.0,263.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543228-46543228","hg38,11:g.46543228T>A",0.135,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, acute_myeloid_leukaemia",,,,,,,,,,,,,, +287,264,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +288,265,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +289,266,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +290,267,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +291,268,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +292,269,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +293,270,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +294,271,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +295,272,P,L,p.Pro272Leu,272.0,272.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543202-46543202","hg38,11:g.46543202G>A",0.179,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +296,273,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +297,274,P,L,p.Pro274Leu,274.0,274.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543196-46543196","hg38,11:g.46543196G>A",0.109,"skin, trunk","malignant_melanoma, desmoplastic",,,,,,,,,,,,,, +298,275,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +299,276,Q,P,p.Gln276Pro,276.0,276.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543190-46543190","hg38,11:g.46543190T>G",0.057,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +300,277,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +301,278,S,P,p.Ser278Pro,278.0,278.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543185-46543185","hg38,11:g.46543185A>G",0.172,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +302,279,T,P,p.Thr279Pro,279.0,279.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543182-46543182","hg38,11:g.46543182T>G",0.186,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +303,280,E,G,p.Glu280Gly,280.0,280.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543178-46543178","hg38,11:g.46543178T>C",0.082,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +304,281,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +305,282,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +306,283,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +307,284,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +308,285,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +309,286,A,P,p.Ala286Pro,286.0,286.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543161-46543161","hg38,11:g.46543161C>G",0.078,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +310,287,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +311,288,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +312,289,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +313,290,L,P,p.Leu290Pro,290.0,290.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543148-46543148","hg38,11:g.46543148A>G",0.322,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +314,291,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +315,292,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +316,293,R,L,p.Arg293Leu,293.0,293.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543139-46543139","hg38,11:g.46543139C>A",0.188,"skin, shoulder","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +317,294,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +318,295,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +319,296,Y,D,p.Tyr296Asp,296.0,296.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543131-46543131","hg38,11:g.46543131A>C",0.286,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +320,297,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +321,298,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +322,299,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +323,300,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +324,301,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +325,302,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +326,303,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +327,304,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +328,305,L,F,p.Leu305Phe,305.0,305.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543104-46543104","hg38,11:g.46543104G>A",0.117,skin,malignant_melanoma,,,,,,,,,,,,,, +329,306,G,W,p.Gly306Trp,306.0,306.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543101-46543101","hg38,11:g.46543101C>A",0.352,placenta,choriocarcinoma,,,,,,,,,,,,,, +330,307,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +331,308,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +332,309,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +333,310,L,F,p.Leu310Phe,310.0,310.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543089-46543089","hg38,11:g.46543089G>A",0.322,skin,malignant_melanoma,,,,,,,,,,,,,, +334,311,C,F,p.Cys311Phe,311.0,311.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543085-46543085","hg38,11:g.46543085C>A",0.622,autonomic_ganglia,neuroblastoma,,,,,,,,,,,,,, +335,312,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +336,313,R,H,p.Arg313His,313.0,313.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543079-46543079","hg38,11:g.46543079C>T",0.059,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +337,314,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +338,315,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +339,316,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +340,317,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +341,318,R,Q,p.Arg318Gln,318.0,318.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543064-46543064","hg38,11:g.46543064C>T",0.255,"skin, extremity",malignant_melanoma,,,,,,,,,,,,,, +342,319,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +343,320,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +344,321,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +345,322,L,I,p.Leu322Ile,322.0,322.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46543053-46543053","hg38,11:g.46543053G>T",0.113,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +346,323,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +347,324,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +348,325,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +349,326,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +350,327,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +351,328,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +352,329,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +353,330,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +354,331,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +355,332,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +356,333,S,C,p.Ser333Cys,333.0,333.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46543019-46543019","hg38,11:g.46543019G>C",0.156,,,,,,,,,,,,,,,, +357,334,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +358,335,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +359,336,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +360,337,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +361,338,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +362,339,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +363,340,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +364,341,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +365,342,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +366,343,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +367,344,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +368,345,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +369,346,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +370,347,E,K,p.Glu347Lys,347.0,347.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542978-46542978","hg38,11:g.46542978C>T",0.326,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +371,348,P,S,p.Pro348Ser,348.0,348.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542975-46542975","hg38,11:g.46542975G>A",0.322,skin,malignant_melanoma,,,,,,,,,,,,,, +372,349,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +373,350,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +374,351,P,R,p.Pro351Arg,351.0,351.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564515-46564515, hg38,11:46542965-46542965","hg19,11:g.46564515G>C, hg38,11:g.46542965G>C",0.170,,,,,,,3860407,Uncertain significance,not specified,1,,,,,, +375,352,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +376,353,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +377,354,Q,R,p.Gln354Arg,354.0,354.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564506-46564506, hg38,11:46542956-46542956","hg19,11:g.46564506T>C, hg38,11:g.46542956T>C",0.381,,,,,,,4046079,Uncertain significance,not specified,1,,,,,, +378,355,A,T,p.Ala355Thr,355.0,355.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564504-46564504, hg38,11:46542954-46542954","hg19,11:g.46564504C>T, hg38,11:g.46542954C>T",0.168,,,,,,,4090647,Uncertain significance,not specified,1,,,,,, +379,356,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +380,357,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +381,358,T,A,p.Thr358Ala,358.0,358.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564495-46564495, hg38,11:46542945-46542945","hg19,11:g.46564495T>C, hg38,11:g.46542945T>C",0.127,,,,,,,3114906,Likely benign,not specified,1,,,,,, +382,358,T,M,p.Thr358Met,358.0,358.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542944-46542944","hg38,11:g.46542944G>A",0.096,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +383,359,Q,R,p.Gln359Arg,359.0,359.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564491-46564491, hg38,11:46542941-46542941","hg19,11:g.46564491T>C, hg38,11:g.46542941T>C",0.046,,,,,,,2219448,Uncertain significance,not specified,1,,,,,, +384,360,Q,R,p.Gln360Arg,360.0,360.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542938-46542938","hg38,11:g.46542938T>C",0.111,liver,carcinoma,,,,,,,,,,,,,, +385,361,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +386,362,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +387,363,G,D,p.Gly363Asp,363.0,363.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542929-46542929","hg38,11:g.46542929C>T",0.338,,malignant_melanoma,,,,,,,,,,,,,, +388,364,L,F,p.Leu364Phe,364.0,364.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46564477-46564477, hg38,11:46542927-46542927","hg19,11:g.46564477G>A, hg38,11:g.46542927G>A",0.117,"oesophagus, skin, extremity","carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,869203,Uncertain significance,Neural tube defect,0,,,,,, +389,365,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +390,366,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +391,367,R,W,p.Arg367Trp,367.0,367.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542918-46542918","hg38,11:g.46542918G>A",0.468,"large_intestine, stomach","carcinoma, carcinoma, adenocarcinoma",,,,,,,,,,,,,, +392,368,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +393,369,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +394,370,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +395,371,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +396,372,S,G,p.Ser372Gly,372.0,372.0,missense,"COSMIC,ClinVar",P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564453-46564453, hg38,11:46542903-46542903","hg19,11:g.46564453T>C, hg38,11:g.46542903T>C",0.338,stomach,"carcinoma, adenocarcinoma",,,,,4090707,Uncertain significance,not specified,1,,,,,, +397,373,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +398,374,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +399,375,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +400,376,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +401,377,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +402,378,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +403,379,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +404,380,G,D,p.Gly380Asp,380.0,380.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542878-46542878","hg38,11:g.46542878C>T",0.293,"skin, head_neck",malignant_melanoma,,,,,,,,,,,,,, +405,381,N,I,p.Asn381Ile,381.0,381.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542875-46542875","hg38,11:g.46542875T>A",0.407,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +406,382,T,M,p.Thr382Met,382.0,382.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564422-46564422, hg38,11:46542872-46542872","hg19,11:g.46564422G>A, hg38,11:g.46542872G>A",0.359,,,,,,,4640161,Uncertain significance,not specified,1,,,,,, +407,383,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +408,384,R,H,p.Arg384His,384.0,384.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46564416-46564416, hg38,11:46542866-46542866","hg19,11:g.46564416C>T, hg38,11:g.46542866C>T",0.300,"large_intestine, oesophagus, oesophagus, middle_third","carcinoma, adenocarcinoma, carcinoma, squamous_cell_carcinoma",,,,,2481072,Uncertain significance,not specified,1,,,,,, +409,385,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +410,386,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +411,387,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +412,388,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +413,389,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +414,390,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +415,391,T,S,p.Thr391Ser,391.0,391.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564395-46564395, hg38,11:46542845-46542845","hg19,11:g.46564395G>C, hg38,11:g.46542845G>C",0.138,,,,,,,3860423,Uncertain significance,not specified,1,,,,,, +416,392,R,C,p.Arg392Cys,392.0,392.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564393-46564393, hg38,11:46542843-46542843","hg19,11:g.46564393G>A, hg38,11:g.46542843G>A",0.422,,,,,,,3292375,Uncertain significance,not specified,1,,,,,, +417,392,R,H,p.Arg392His,392.0,392.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542842-46542842","hg38,11:g.46542842C>T",0.291,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +418,393,R,H,p.Arg393His,393.0,393.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542839-46542839","hg38,11:g.46542839C>T",0.346,"autonomic_ganglia, endometrium, prostate","carcinoma, adenocarcinoma, hyperplasia, atypical, neuroblastoma",,,,,,,,,,,,,, +419,394,S,C,p.Ser394Cys,394.0,394.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564386-46564386, hg38,11:46542836-46542836","hg19,11:g.46564386G>C, hg38,11:g.46542836G>C",0.350,,,,,,,2533188,Uncertain significance,not specified,1,,,,,, +420,395,L,F,p.Leu395Phe,395.0,395.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542832-46542832","hg38,11:g.46542832C>A",0.276,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +421,396,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +422,397,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +423,398,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +424,399,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +425,400,S,C,p.Ser400Cys,400.0,400.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542818-46542818","hg38,11:g.46542818G>C",0.270,"endometrium, skin, mucosal, anorectal","carcinoma, endometrioid_carcinoma, malignant_melanoma",,,,,,,,,,,,,, +426,400,S,Y,p.Ser400Tyr,400.0,400.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564368-46564368, hg38,11:46542818-46542818","hg19,11:g.46564368G>T, hg38,11:g.46542818G>T",0.272,,,,,,,4090696,Uncertain significance,not specified,1,,,,,, +427,401,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +428,402,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +429,403,P,S,p.Pro403Ser,403.0,403.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542810-46542810","hg38,11:g.46542810G>A",0.116,skin,malignant_melanoma,,,,,,,,,,,,,, +430,404,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +431,405,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +432,406,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +433,407,H,Y,p.His407Tyr,407.0,407.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542798-46542798","hg38,11:g.46542798G>A",0.275,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +434,408,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +435,409,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +436,410,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +437,411,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +438,412,P,H,p.Pro412His,412.0,412.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542782-46542782","hg38,11:g.46542782G>T",0.213,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +439,413,G,V,p.Gly413Val,413.0,413.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542779-46542779","hg38,11:g.46542779C>A",0.335,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +440,414,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +441,415,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +442,416,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +443,417,S,A,p.Ser417Ala,417.0,417.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542768-46542768","hg38,11:g.46542768A>C",0.068,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +444,417,S,F,p.Ser417Phe,417.0,417.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542767-46542767","hg38,11:g.46542767G>A",0.468,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +445,418,E,K,p.Glu418Lys,418.0,418.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542765-46542765","hg38,11:g.46542765C>T",0.276,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, +446,418,E,Q,p.Glu418Gln,418.0,418.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542765-46542765","hg38,11:g.46542765C>G",0.162,cervix,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +447,419,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +448,420,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +449,421,R,Q,p.Arg421Gln,421.0,421.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542755-46542755","hg38,11:g.46542755C>T",0.358,"haematopoietic_and_lymphoid_tissue, skin","lymphoid_neoplasm, NK-T_cell_lymphoma, malignant_melanoma",,,,,,,,,,,,,, +450,422,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +451,423,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +452,424,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +453,425,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +454,426,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +455,427,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +456,428,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +457,429,R,C,p.Arg429Cys,429.0,429.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564282-46564282, hg38,11:46542732-46542732","hg19,11:g.46564282G>A, hg38,11:g.46542732G>A",0.373,,,,,,,2237750,Uncertain significance,not specified,1,,,,,, +458,430,S,Y,p.Ser430Tyr,430.0,430.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542728-46542728","hg38,11:g.46542728G>T",0.245,skin,malignant_melanoma,,,,,,,,,,,,,, +459,431,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +460,432,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +461,433,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +462,434,S,F,p.Ser434Phe,434.0,434.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542716-46542716","hg38,11:g.46542716G>A",0.128,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +463,435,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +464,436,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +465,437,P,L,p.Pro437Leu,437.0,437.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542707-46542707","hg38,11:g.46542707G>A",0.475,"large_intestine, stomach","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +466,437,P,S,p.Pro437Ser,437.0,437.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564258-46564258, hg38,11:46542708-46542708","hg19,11:g.46564258G>A, hg38,11:g.46542708G>A",0.443,,,,,,,2553334,Uncertain significance,not specified,1,,,,,, +467,438,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +468,439,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +469,440,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +470,441,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +471,442,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +472,443,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +473,444,S,L,p.Ser444Leu,444.0,444.0,missense,"COSMIC,ClinVar",P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564236-46564236, hg38,11:46542686-46542686","hg19,11:g.46564236G>A, hg38,11:g.46542686G>A",0.464,"cervix, endometrium, skin","carcinoma, basal_cell_carcinoma, carcinoma, endometrioid_carcinoma, carcinoma, squamous_cell_carcinoma",,,,,2381197,Uncertain significance,not specified,1,,,,,, +474,444,S,W,p.Ser444Trp,444.0,444.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542686-46542686","hg38,11:g.46542686G>C",0.539,stomach,carcinoma,,,,,,,,,,,,,, +475,445,V,M,p.Val445Met,445.0,445.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542684-46542684","hg38,11:g.46542684C>T",0.283,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, +476,446,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +477,447,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +478,448,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +479,449,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +480,450,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +481,451,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +482,452,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +483,453,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +484,454,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +485,455,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +486,456,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +487,457,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +488,458,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +489,459,Q,K,p.Gln459Lys,459.0,459.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542642-46542642","hg38,11:g.46542642G>T",0.194,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, +490,459,Q,R,p.Gln459Arg,459.0,459.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46564191-46564191, hg38,11:46542641-46542641","hg19,11:g.46564191T>C, hg38,11:g.46542641T>C",0.084,stomach,"carcinoma, adenocarcinoma",,,,,3534683,Uncertain significance,not specified,1,,,,,, +491,460,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +492,461,S,F,p.Ser461Phe,461.0,461.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564185-46564185, hg38,11:46542635-46542635","hg19,11:g.46564185G>A, hg38,11:g.46542635G>A",0.573,,,,,,,2263064,Uncertain significance,not specified,1,,,,,, +493,462,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +494,463,Y,C,p.Tyr463Cys,463.0,463.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542629-46542629","hg38,11:g.46542629T>C",0.543,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +495,463,Y,F,p.Tyr463Phe,463.0,463.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46564179-46564179, hg38,11:46542629-46542629","hg19,11:g.46564179T>A, hg38,11:g.46542629T>A",0.387,,,,,,,2240350,Uncertain significance,not specified,1,,,,,, +496,464,T,A,p.Thr464Ala,464.0,464.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542627-46542627","hg38,11:g.46542627T>C",0.324,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +497,465,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +498,466,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +499,467,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +500,468,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +501,469,G,R,p.Gly469Arg,469.0,469.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542612-46542612","hg38,11:g.46542612C>T",0.241,skin,"malignant_melanoma, acral_lentiginous",,,,,,,,,,,,,, +502,470,R,M,p.Arg470Met,470.0,470.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542608-46542608","hg38,11:g.46542608C>A",0.363,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +503,471,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +504,472,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +505,473,P,L,p.Pro473Leu,473.0,473.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564149-46564149, hg38,11:46542599-46542599","hg19,11:g.46564149G>A, hg38,11:g.46542599G>A",0.063,,,,,,,3114750,Uncertain significance,not specified,1,,,,,, +506,474,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +507,475,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +508,476,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +509,477,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +510,478,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +511,479,T,I,p.Thr479Ile,479.0,479.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542581-46542581","hg38,11:g.46542581G>A",0.099,skin,malignant_melanoma,,,,,,,,,,,,,, +512,480,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +513,481,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +514,482,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +515,483,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +516,484,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +517,485,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +518,486,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +519,487,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +520,488,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +521,489,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +522,490,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +523,491,N,Y,p.Asn491Tyr,491.0,491.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564096-46564096, hg38,11:46542546-46542546","hg19,11:g.46564096T>A, hg38,11:g.46542546T>A",0.287,,,,,,,2389632,Uncertain significance,not specified,1,,,,,, +524,492,S,W,p.Ser492Trp,492.0,492.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542542-46542542","hg38,11:g.46542542G>C",0.318,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +525,493,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +526,494,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +527,495,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +528,496,R,C,p.Arg496Cys,496.0,496.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542531-46542531","hg38,11:g.46542531G>A",0.499,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +529,496,R,H,p.Arg496His,496.0,496.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542530-46542530","hg38,11:g.46542530C>T",0.281,"large_intestine, upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, adenocarcinoma, carcinoma, nasopharyngeal_carcinoma",,,,,,,,,,,,,, +530,497,H,N,p.His497Asn,497.0,497.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542528-46542528","hg38,11:g.46542528G>T",0.085,"central_nervous_system, brain",primitive_neuroectodermal_tumour-medulloblastoma,,,,,,,,,,,,,, +531,498,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +532,499,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +533,500,Q,L,p.Gln500Leu,500.0,500.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542518-46542518","hg38,11:g.46542518T>A",0.415,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +534,500,Q,R,p.Gln500Arg,500.0,500.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542518-46542518","hg38,11:g.46542518T>C",0.216,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +535,501,C,R,p.Cys501Arg,501.0,501.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46564066-46564066, hg38,11:46542516-46542516","hg19,11:g.46564066A>G, hg38,11:g.46542516A>G",0.754,,,,,,,4090687,Uncertain significance,not specified,1,,,,,, +536,502,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +537,503,L,P,p.Leu503Pro,503.0,503.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542509-46542509","hg38,11:g.46542509A>G",0.646,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +538,504,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +539,505,R,C,p.Arg505Cys,505.0,505.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542504-46542504","hg38,11:g.46542504G>A",0.647,"central_nervous_system, brain","glioma, astrocytoma_Grade_IV, glioblastoma_multiforme",,,,,,,,,,,,,, +540,506,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +541,507,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +542,508,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +543,509,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +544,510,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +545,511,D,G,p.Asp511Gly,511.0,511.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542485-46542485","hg38,11:g.46542485T>C",0.415,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +546,512,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +547,513,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +548,514,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +549,515,E,K,p.Glu515Lys,515.0,515.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542474-46542474","hg38,11:g.46542474C>T",0.387,"urinary_tract, bladder","carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +550,516,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +551,517,D,H,p.Asp517His,517.0,517.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542468-46542468","hg38,11:g.46542468C>G",0.445,skin,"benign_melanocytic_nevus, dysplastic",,,,,,,,,,,,,, +552,517,D,Y,p.Asp517Tyr,517.0,517.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542468-46542468","hg38,11:g.46542468C>A",0.455,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +553,518,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +554,519,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +555,520,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +556,521,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +557,522,G,V,p.Gly522Val,522.0,522.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542452-46542452","hg38,11:g.46542452C>A",0.438,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +558,523,E,K,p.Glu523Lys,523.0,523.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542450-46542450","hg38,11:g.46542450C>T",0.176,"skin, arm","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +559,524,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +560,525,P,L,p.Pro525Leu,525.0,525.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542443-46542443","hg38,11:g.46542443G>A",0.083,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +561,525,P,S,p.Pro525Ser,525.0,525.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46563994-46563994, hg38,11:46542444-46542444","hg19,11:g.46563994G>A, hg38,11:g.46542444G>A",0.117,"haematopoietic_and_lymphoid_tissue, abdomen","lymphoid_neoplasm, Burkitt_lymphoma, endemic_variant",,,,,2389611,Uncertain significance,not specified,1,,,,,, +562,526,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +563,527,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +564,528,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +565,529,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +566,530,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +567,531,Q,L,p.Gln531Leu,531.0,531.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542425-46542425","hg38,11:g.46542425T>A",0.445,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +568,532,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +569,533,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +570,534,L,F,p.Leu534Phe,534.0,534.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563967-46563967, hg38,11:46542417-46542417","hg19,11:g.46563967G>A, hg38,11:g.46542417G>A",0.400,,,,,,,3860373,Uncertain significance,not specified,1,,,,,, +571,535,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +572,536,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +573,537,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +574,538,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +575,539,E,K,p.Glu539Lys,539.0,539.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542402-46542402","hg38,11:g.46542402C>T",0.405,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +576,540,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +577,541,E,K,p.Glu541Lys,541.0,541.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542396-46542396","hg38,11:g.46542396C>T",0.257,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +578,541,E,Q,p.Glu541Gln,541.0,541.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542396-46542396","hg38,11:g.46542396C>G",0.223,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +579,542,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +580,543,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +581,544,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +582,545,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +583,546,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +584,547,H,Y,p.His547Tyr,547.0,547.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542378-46542378","hg38,11:g.46542378G>A",0.398,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +585,548,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +586,549,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +587,550,T,P,p.Thr550Pro,550.0,550.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542369-46542369","hg38,11:g.46542369T>G",0.306,breast,carcinoma,,,,,,,,,,,,,, +588,551,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +589,552,H,Y,p.His552Tyr,552.0,552.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563913-46563913, hg38,11:46542363-46542363","hg19,11:g.46563913G>A, hg38,11:g.46542363G>A",0.284,,,,,,,2634662,Uncertain significance,AMBRA1-related disorder,1,,,,,, +590,553,S,N,p.Ser553Asn,553.0,553.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542359-46542359","hg38,11:g.46542359C>T",0.171,stomach,carcinoma,,,,,,,,,,,,,, +591,554,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +592,555,E,A,p.Glu555Ala,555.0,555.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563903-46563903, hg38,11:46542353-46542353","hg19,11:g.46563903T>G, hg38,11:g.46542353T>G",0.375,,,,,,,3114761,Uncertain significance,not specified,1,,,,,, +593,556,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +594,557,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +595,558,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +596,559,N,I,p.Asn559Ile,559.0,559.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563891-46563891, hg38,11:46542341-46542341","hg19,11:g.46563891T>A, hg38,11:g.46542341T>A",0.222,,,,,,,4640151,Uncertain significance,not specified,1,,,,,, +597,560,L,M,p.Leu560Met,560.0,560.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542339-46542339","hg38,11:g.46542339G>T",0.184,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +598,561,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +599,562,R,C,p.Arg562Cys,562.0,562.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542333-46542333","hg38,11:g.46542333G>A",0.407,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",,,,,,,,,,,,,, +600,562,R,H,p.Arg562His,562.0,562.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563882-46563882, hg38,11:46542332-46542332","hg19,11:g.46563882C>T, hg38,11:g.46542332C>T",0.276,,,,,,,2407162,Uncertain significance,not specified,1,,,,,, +601,563,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +602,564,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +603,565,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +604,566,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +605,567,R,C,p.Arg567Cys,567.0,567.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542318-46542318","hg38,11:g.46542318G>A",0.570,skin,malignant_melanoma,,,,,,,,,,,,,, +606,568,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +607,569,R,C,p.Arg569Cys,569.0,569.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542312-46542312","hg38,11:g.46542312G>A",0.605,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +608,570,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +609,571,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +610,572,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +611,573,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +612,574,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +613,575,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +614,576,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +615,577,F,L,p.Phe577Leu,577.0,577.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542288-46542288","hg38,11:g.46542288A>G",0.490,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, +616,578,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +617,579,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +618,580,D,V,p.Asp580Val,580.0,580.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542278-46542278","hg38,11:g.46542278T>A",0.544,liver,carcinoma,,,,,,,,,,,,,, +619,581,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +620,582,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +621,583,R,C,p.Arg583Cys,583.0,583.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563820-46563820, hg38,11:46542270-46542270","hg19,11:g.46563820G>A, hg38,11:g.46542270G>A",0.719,,,,,,,2522640,Uncertain significance,not specified,1,,,,,, +622,584,W,C,p.Trp584Cys,584.0,584.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542265-46542265","hg38,11:g.46542265C>A",0.746,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +623,585,E,G,p.Glu585Gly,585.0,585.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542263-46542263","hg38,11:g.46542263T>C",0.601,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +624,586,R,I,p.Arg586Ile,586.0,586.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563810-46563810, hg38,11:46542260-46542260","hg19,11:g.46563810C>A, hg38,11:g.46542260C>A",0.679,,,,,,,4640152,Uncertain significance,not specified,1,,,,,, +625,587,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +626,588,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +627,589,P,A,p.Pro589Ala,589.0,589.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542252-46542252","hg38,11:g.46542252G>C",0.266,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +628,590,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +629,591,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +630,592,S,Y,p.Ser592Tyr,592.0,592.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46563792-46563792, hg38,11:46542242-46542242","hg19,11:g.46563792G>T, hg38,11:g.46542242G>T",0.192,,,,,,,3534688,Uncertain significance,not specified,1,,,,,, +631,593,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +632,594,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +633,595,E,K,p.Glu595Lys,595.0,595.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542234-46542234","hg38,11:g.46542234C>T",0.205,"lung, lung, right_lower_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +634,595,E,Q,p.Glu595Gln,595.0,595.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542234-46542234","hg38,11:g.46542234C>G",0.197,skin,malignant_melanoma,,,,,,,,,,,,,, +635,596,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +636,597,S,G,p.Ser597Gly,597.0,597.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46563778-46563778, hg38,11:46542228-46542228","hg19,11:g.46563778T>C, hg38,11:g.46542228T>C",0.089,,,,,,,4640158,Uncertain significance,not specified,1,,,,,, +637,598,S,F,p.Ser598Phe,598.0,598.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542224-46542224","hg38,11:g.46542224G>A",0.246,"soft_tissue, blood_vessel, skin, scalp",angiosarcoma,,,,,,,,,,,,,, +638,599,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +639,600,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +640,601,Q,H,p.Gln601His,601.0,601.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542214-46542214","hg38,11:g.46542214C>A, hg38,11:g.46542214C>G",0.088,"liver, stomach, stomach, gastroesophageal_junction","carcinoma, adenocarcinoma, carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +641,602,V,I,p.Val602Ile,602.0,602.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542213-46542213","hg38,11:g.46542213C>T",0.109,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, +642,603,P,S,p.Pro603Ser,603.0,603.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542210-46542210","hg38,11:g.46542210G>A",0.040,"stomach, gastroesophageal_junction","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +643,604,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +644,605,S,F,p.Ser605Phe,605.0,605.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542202-46542203","hg38,11:g.46542202_46542203delinsAA",,skin,malignant_melanoma,,,,,,,,,,,,,, +645,606,F,S,p.Phe606Ser,606.0,606.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542200-46542200","hg38,11:g.46542200A>G",0.213,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +646,606,F,V,p.Phe606Val,606.0,606.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563751-46563751, hg38,11:46542201-46542201","hg19,11:g.46563751A>C, hg38,11:g.46542201A>C",0.275,,,,,,,2494699,Uncertain significance,not specified,1,,,,,, +647,607,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +648,608,S,T,p.Ser608Thr,608.0,608.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46563744-46563744, hg38,11:46542194-46542194","hg19,11:g.46563744C>G, hg38,11:g.46542194C>G",0.091,,,,,,,2477165,Uncertain significance,not specified,1,,,,,, +649,609,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +650,610,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +651,611,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +652,612,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +653,613,G,D,p.Gly613Asp,613.0,613.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563729-46563729, hg38,11:46542179-46542179","hg19,11:g.46563729C>T, hg38,11:g.46542179C>T",0.408,,,,,,,2282062,Uncertain significance,not specified,1,,,,,, +654,614,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +655,615,Q,K,p.Gln615Lys,615.0,615.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542174-46542174","hg38,11:g.46542174G>T",0.442,liver,"other, neoplasm",,,,,,,,,,,,,, +656,615,Q,P,p.Gln615Pro,615.0,615.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563723-46563723, hg38,11:46542173-46542173","hg19,11:g.46563723T>G, hg38,11:g.46542173T>G",0.380,,,,,,,3114781,Uncertain significance,not specified,1,,,,,, +657,616,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +658,617,P,L,p.Pro617Leu,617.0,617.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563717-46563717, hg38,11:46542167-46542167","hg19,11:g.46563717G>A, hg38,11:g.46542167G>A",0.374,,,,,,,4046011,Uncertain significance,not specified,1,,,,,, +659,618,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +660,619,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +661,620,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +662,621,R,W,p.Arg621Trp,621.0,621.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563706-46563706, hg38,11:46542156-46542156","hg19,11:g.46563706G>A, hg38,11:g.46542156G>A",0.488,,,,,,,3534701,Uncertain significance,not specified,1,,,,,, +663,622,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +664,623,E,K,p.Glu623Lys,623.0,623.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542150-46542150","hg38,11:g.46542150C>T",0.411,stomach,"carcinoma, intestinal_adenocarcinoma",,,,,,,,,,,,,, +665,624,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +666,625,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +667,626,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +668,627,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +669,628,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +670,629,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +671,630,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +672,631,R,S,p.Arg631Ser,631.0,631.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542124-46542124","hg38,11:g.46542124C>G",0.418,"small_intestine, duodenum","adenoma, tubulovillous",,,,,,,,,,,,,, +673,632,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +674,633,E,G,p.Glu633Gly,633.0,633.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563669-46563669, hg38,11:46542119-46542119","hg19,11:g.46563669T>C, hg38,11:g.46542119T>C",0.431,,,,,,,4640155,Uncertain significance,not specified,1,,,,,, +675,634,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +676,635,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +677,636,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +678,637,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +679,638,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +680,639,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +681,640,P,L,p.Pro640Leu,640.0,640.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46563648-46563648, hg38,11:46542098-46542098","hg19,11:g.46563648G>A, hg38,11:g.46542098G>A",0.414,large_intestine,"carcinoma, adenocarcinoma",,,,,2225802,Uncertain significance,not specified,1,,,,,, +682,640,P,S,p.Pro640Ser,640.0,640.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542099-46542099","hg38,11:g.46542099G>A",0.293,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +683,641,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +684,642,E,K,p.Glu642Lys,642.0,642.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542093-46542093","hg38,11:g.46542093C>T",0.437,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +685,643,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +686,644,R,M,p.Arg644Met,644.0,644.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542086-46542086","hg38,11:g.46542086C>A",0.543,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +687,645,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +688,646,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +689,647,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +690,648,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +691,649,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +692,650,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +693,651,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +694,652,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +695,653,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +696,654,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +697,655,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +698,656,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +699,657,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +700,658,E,K,p.Glu658Lys,658.0,658.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542045-46542045","hg38,11:g.46542045C>T",0.570,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +701,659,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +702,660,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +703,661,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +704,662,T,A,p.Thr662Ala,662.0,662.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542033-46542033","hg38,11:g.46542033T>C",0.312,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +705,663,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +706,664,S,P,p.Ser664Pro,664.0,664.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46542027-46542027","hg38,11:g.46542027A>G",0.279,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, +707,665,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +708,666,R,I,p.Arg666Ile,666.0,666.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542020-46542020","hg38,11:g.46542020C>A",0.514,"urinary_tract, bladder","carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +709,667,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +710,668,G,E,p.Gly668Glu,668.0,668.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563564-46563564, hg38,11:46542014-46542014","hg19,11:g.46563564C>T, hg38,11:g.46542014C>T",0.479,,,,,,,3860402,Uncertain significance,not specified,1,,,,,, +711,669,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +712,670,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +713,671,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +714,672,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +715,673,E,D,p.Glu673Asp,673.0,673.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541998-46541998","hg38,11:g.46541998C>A",0.275,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +716,673,E,K,p.Glu673Lys,673.0,673.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46542000-46542000","hg38,11:g.46542000C>T",0.576,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +717,674,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +718,675,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +719,676,H,D,p.His676Asp,676.0,676.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46563541-46563541, hg38,11:46541991-46541991","hg19,11:g.46563541G>C, hg38,11:g.46541991G>C",0.314,,,,,,,4090546,Uncertain significance,not specified,1,,,,,, +720,677,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +721,678,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +722,679,M,I,p.Met679Ile,679.0,679.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46563530-46563530, hg38,11:46541980-46541980","hg19,11:g.46563530C>G, hg38,11:g.46541980C>A, hg38,11:g.46541980C>G",0.365,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, chronic_myelomonocytic_leukaemia",,,,,4090700,Uncertain significance,not specified,1,,,,,, +723,680,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +724,681,E,Q,p.Glu681Gln,681.0,681.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541976-46541976","hg38,11:g.46541976C>G",0.434,haematopoietic_and_lymphoid_tissue,"haematopoietic_neoplasm, chronic_myelomonocytic_leukaemia",,,,,,,,,,,,,, +725,682,E,D,p.Glu682Asp,682.0,682.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541971-46541971","hg38,11:g.46541971C>A",0.415,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +726,683,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +727,684,S,F,p.Ser684Phe,684.0,684.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46563516-46563516, hg38,11:46541966-46541966","hg19,11:g.46563516G>A, hg38,11:g.46541966G>A",0.415,,,,,,,2226306,Uncertain significance,not specified,1,,,,,, +728,684,S,T,p.Ser684Thr,684.0,684.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46563517-46563517, hg38,11:46541967-46541967","hg19,11:g.46563517A>T, hg38,11:g.46541967A>T",0.283,,,,,,,2249602,Uncertain significance,not specified,1,,,,,, +729,685,E,K,p.Glu685Lys,685.0,685.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541964-46541964","hg38,11:g.46541964C>T",0.580,"oesophagus, middle_third","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +730,685,E,Q,p.Glu685Gln,685.0,685.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541964-46541964","hg38,11:g.46541964C>G",0.502,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +731,686,E,K,p.Glu686Lys,686.0,686.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541961-46541961","hg38,11:g.46541961C>T",0.497,skin,malignant_melanoma,,,,,,,,,,,,,, +732,687,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +733,688,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +734,689,L,F,p.Leu689Phe,689.0,689.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46541952-46541952","hg38,11:g.46541952G>A",0.472,,malignant_melanoma,,,,,,,,,,,,,, +735,690,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +736,691,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +737,692,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +738,693,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +739,694,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +740,695,E,D,p.Glu695Asp,695.0,695.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46534351-46534351, hg38,11:46512801-46512801","hg19,11:g.46534351T>G, hg38,11:g.46512801T>G",0.531,,,,,,,4640156,Uncertain significance,not specified,1,,,,,, +741,696,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +742,697,S,P,p.Ser697Pro,697.0,697.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46512797-46512797","hg38,11:g.46512797A>G",0.581,skin,malignant_melanoma,,,,,,,,,,,,,, +743,698,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +744,699,I,V,p.Ile699Val,699.0,699.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46534341-46534341, hg38,11:46512791-46512791","hg19,11:g.46534341T>C, hg38,11:g.46512791T>C",0.310,,,,,,,3860379,Uncertain significance,not specified,1,,,,,, +745,700,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +746,701,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +747,702,S,F,p.Ser702Phe,702.0,702.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46512781-46512781","hg38,11:g.46512781G>A",0.696,"skin, trunk","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, +748,703,R,C,p.Arg703Cys,703.0,703.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46534329-46534329, hg38,11:46512779-46512779","hg19,11:g.46534329G>A, hg38,11:g.46512779G>A",0.704,,,,,,,4045998,Uncertain significance,not specified,1,,,,,, +749,703,R,H,p.Arg703His,703.0,703.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46534328-46534328, hg38,11:46512778-46512778","hg19,11:g.46534328C>T, hg38,11:g.46512778C>T",0.588,stomach,"carcinoma, intestinal_adenocarcinoma",,,,,3292353,Uncertain significance,not specified,1,,,,,, +750,704,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +751,705,D,N,p.Asp705Asn,705.0,705.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46512773-46512773","hg38,11:g.46512773C>T",0.472,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +752,706,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +753,707,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +754,708,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +755,709,S,F,p.Ser709Phe,709.0,709.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46512760-46512760","hg38,11:g.46512760G>A",0.607,skin,malignant_melanoma,,,,,,,,,,,,,, +756,709,S,T,p.Ser709Thr,709.0,709.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46512761-46512761","hg38,11:g.46512761A>T",0.482,"large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +757,710,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +758,711,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +759,712,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +760,713,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +761,714,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +762,715,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +763,716,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +764,717,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +765,718,P,S,p.Pro718Ser,718.0,718.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46512734-46512734","hg38,11:g.46512734G>A",0.390,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, acute_lymphoblastic_B_cell_leukaemia",,,,,,,,,,,,,, +766,719,A,V,p.Ala719Val,719.0,719.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46512730-46512730","hg38,11:g.46512730G>A",0.444,"large_intestine, large_intestine, colon, right, upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, adenocarcinoma, carcinoma, nasopharyngeal_carcinoma, non_keratinizing",,,,,,,,,,,,,, +767,720,R,S,p.Arg720Ser,720.0,720.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494204-46494204","hg38,11:g.46494204C>A",0.296,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +768,721,D,E,p.Asp721Glu,721.0,721.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515751-46515751, hg38,11:46494201-46494201","hg19,11:g.46515751G>C, hg38,11:g.46494201G>C",0.472,,,,,,,3114802,Uncertain significance,not specified,1,,,,,, +769,721,D,N,p.Asp721Asn,721.0,721.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494203-46494203","hg38,11:g.46494203C>T",0.379,"skin, scalp",malignant_melanoma,,,,,,,,,,,,,, +770,722,N,S,p.Asn722Ser,722.0,722.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515749-46515749, hg38,11:46494199-46494199","hg19,11:g.46515749T>C, hg38,11:g.46494199T>C",0.304,,,,,,,3036278,Likely benign,AMBRA1-related disorder,0,,,,,, +771,723,G,D,p.Gly723Asp,723.0,723.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494196-46494196","hg38,11:g.46494196C>T",0.608,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +772,724,D,N,p.Asp724Asn,724.0,724.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494194-46494194","hg38,11:g.46494194C>T",0.385,stomach,"carcinoma, carcinoma, diffuse_adenocarcinoma",,,,,,,,,,,,,, +773,725,R,I,p.Arg725Ile,725.0,725.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494190-46494190","hg38,11:g.46494190C>A",0.580,"central_nervous_system, brain","glioma, astrocytoma_Grade_III, pleomorphic_xanthoastrocytoma",,,,,,,,,,,,,, +774,726,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +775,727,R,S,p.Arg727Ser,727.0,727.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494183-46494183","hg38,11:g.46494183C>A",0.736,"biliary_tract, gallbladder","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +776,728,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +777,729,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +778,730,A,P,p.Ala730Pro,730.0,730.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494176-46494176","hg38,11:g.46494176C>G",0.453,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +779,731,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +780,732,R,C,p.Arg732Cys,732.0,732.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494170-46494170","hg38,11:g.46494170G>A",0.649,"upper_aerodigestive_tract, mouth",carcinoma,,,,,,,,,,,,,, +781,732,R,H,p.Arg732His,732.0,732.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515719-46515719, hg38,11:46494169-46494169","hg19,11:g.46515719C>T, hg38,11:g.46494169C>T",0.545,,,,,,,3860433,Uncertain significance,not specified,1,,,,,, +782,733,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +783,734,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +784,735,R,L,p.Arg735Leu,735.0,735.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515710-46515710, hg38,11:46494160-46494160","hg19,11:g.46515710C>A, hg38,11:g.46494160C>A",0.661,,,,,,,3114803,Uncertain significance,not specified,1,,,,,, +785,735,R,Q,p.Arg735Gln,735.0,735.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494160-46494160","hg38,11:g.46494160C>T",0.465,kidney,"carcinoma, clear_cell_renal_cell_carcinoma",,,,,,,,,,,,,, +786,735,R,W,p.Arg735Trp,735.0,735.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46515711-46515711, hg38,11:46494161-46494161","hg19,11:g.46515711G>A, hg38,11:g.46494161G>A",0.691,"large_intestine, colon, right, lung","carcinoma, adenocarcinoma, carcinoma, non_small_cell_carcinoma",,,,,3534694,Uncertain significance,not specified,1,,,,,, +787,736,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +788,737,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +789,738,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +790,739,P,S,p.Pro739Ser,739.0,739.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515699-46515699, hg38,11:46494149-46494149","hg19,11:g.46515699G>A, hg38,11:g.46494149G>A",0.456,,,,,,,4090655,Uncertain significance,not specified,1,,,,,, +791,740,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +792,741,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +793,742,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +794,743,R,H,p.Arg743His,743.0,743.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494136-46494136","hg38,11:g.46494136C>T",0.728,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +795,744,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +796,745,V,I,p.Val745Ile,745.0,745.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515681-46515681, hg38,11:46494131-46494131","hg19,11:g.46515681C>T, hg38,11:g.46494131C>T",0.367,,,,,,,4046082,Uncertain significance,not specified,1,,,,,, +797,746,P,Q,p.Pro746Gln,746.0,746.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515677-46515677, hg38,11:46494127-46494127","hg19,11:g.46515677G>T, hg38,11:g.46494127G>T",0.750,,,,,,,4640154,Uncertain significance,not specified,1,,,,,, +798,747,R,M,p.Arg747Met,747.0,747.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46494124-46494124","hg38,11:g.46494124C>A",0.737,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +799,748,R,C,p.Arg748Cys,748.0,748.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46493707-46493707","hg38,11:g.46493707G>A",0.804,"large_intestine, caecum, prostate","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +800,748,R,H,p.Arg748His,748.0,748.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46493706-46493706","hg38,11:g.46493706C>T",0.764,"large_intestine, colon, ascending","adenoma, tubulovillous, high_grade_dysplasia, carcinoma, adenocarcinoma",,,,,,,,,,,,,, +801,749,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +802,750,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +803,751,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +804,752,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +805,753,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +806,754,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +807,755,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +808,756,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +809,757,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +810,758,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +811,759,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +812,760,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +813,761,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +814,762,H,Y,p.His762Tyr,762.0,762.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46493665-46493665","hg38,11:g.46493665G>A",0.669,skin,malignant_melanoma,,,,,,,,,,,,,, +815,763,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +816,764,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +817,765,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +818,766,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +819,767,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +820,768,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +821,769,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +822,770,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +823,771,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +824,772,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +825,773,S,F,p.Ser773Phe,773.0,773.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515181-46515181, hg38,11:46493631-46493631","hg19,11:g.46515181G>A, hg38,11:g.46493631G>A",0.738,,,,,,,869204,Uncertain significance,Neural tube defect,0,,,,,, +826,774,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +827,775,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +828,776,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +829,777,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +830,778,V,I,p.Val778Ile,778.0,778.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46515167-46515167, hg38,11:46493617-46493617","hg19,11:g.46515167C>T, hg38,11:g.46493617C>T",0.171,,,,,,,4640166,Uncertain significance,not specified,1,,,,,, +831,779,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +832,780,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +833,781,G,E,p.Gly781Glu,781.0,781.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443598-46443598","hg38,11:g.46443598C>T",0.744,skin,"malignant_melanoma, spitzoid",,,,,,,,,,,,,, +834,782,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +835,783,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +836,784,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +837,785,G,S,p.Gly785Ser,785.0,785.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46465137-46465137, hg38,11:46443587-46443587","hg19,11:g.46465137C>T, hg38,11:g.46443587C>T",0.309,,,,,,,4640150,Uncertain significance,not specified,1,,,,,, +838,786,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +839,787,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +840,788,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +841,789,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +842,790,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +843,791,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +844,792,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +845,793,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +846,794,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +847,795,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +848,796,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +849,797,N,S,p.Asn797Ser,797.0,797.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443550-46443550","hg38,11:g.46443550T>C",0.201,prostate,adenoma,,,,,,,,,,,,,, +850,798,T,N,p.Thr798Asn,798.0,798.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46443547-46443547","hg38,11:g.46443547G>T",0.539,endometrium,carcinoma,,,,,,,,,,,,,, +851,798,T,S,p.Thr798Ser,798.0,798.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46443547-46443547","hg38,11:g.46443547G>C",0.535,"lung, right_upper_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +852,799,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +853,800,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +854,801,R,Q,p.Arg801Gln,801.0,801.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443538-46443538","hg38,11:g.46443538C>T",0.850,"biliary_tract, bile_duct, endometrium","carcinoma, carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +855,801,R,W,p.Arg801Trp,801.0,801.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443539-46443539","hg38,11:g.46443539G>A",0.744,salivary_gland,"carcinoma, adenoid_cystic_carcinoma",,,,,,,,,,,,,, +856,802,L,F,p.Leu802Phe,802.0,802.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443536-46443536","hg38,11:g.46443536G>A",0.365,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +857,802,L,P,p.Leu802Pro,802.0,802.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443535-46443535","hg38,11:g.46443535A>G",0.613,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +858,803,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +859,804,W,R,p.Trp804Arg,804.0,804.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443530-46443530","hg38,11:g.46443530A>G",0.920,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +860,805,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +861,806,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +862,807,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +863,808,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +864,809,K,Q,p.Lys809Gln,809.0,809.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443515-46443515","hg38,11:g.46443515T>G",0.262,testis,"germ_cell_tumour, teratoma",,,,,,,,,,,,,, +865,810,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +866,811,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +867,812,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +868,813,P,H,p.Pro813His,813.0,813.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443502-46443502","hg38,11:g.46443502G>T",0.348,skin,malignant_melanoma,,,,,,,,,,,,,, +869,814,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +870,815,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +871,816,S,N,p.Ser816Asn,816.0,816.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46443493-46443493","hg38,11:g.46443493C>T",0.253,"small_intestine, duodenum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +872,817,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +873,818,A,S,p.Ala818Ser,818.0,818.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46465038-46465038, hg38,11:46443488-46443488","hg19,11:g.46465038C>A, hg38,11:g.46443488C>A",0.115,,,,,,,4371824,,,,,,,,, +874,818,A,T,p.Ala818Thr,818.0,818.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46465038-46465038, hg38,11:46443488-46443488","hg19,11:g.46465038C>T, hg38,11:g.46443488C>T",0.178,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,4371825,,,,,,,,, +875,818,A,V,p.Ala818Val,818.0,818.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46435037-46435037","hg38,11:g.46435037G>A",0.323,"skin, trunk","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, +876,819,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +877,820,V,M,p.Val820Met,820.0,820.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46456582-46456582, hg38,11:46435032-46435032","hg19,11:g.46456582C>T, hg38,11:g.46435032C>T",0.070,liver,"carcinoma, hepatocellular_carcinoma",,,,,2513817,Uncertain significance,not specified,1,,,,,, +878,821,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +879,822,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +880,823,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +881,824,V,M,p.Val824Met,824.0,824.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46435020-46435020","hg38,11:g.46435020C>T",0.523,"biliary_tract, bile_duct",carcinoma,,,,,,,,,,,,,, +882,825,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +883,826,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +884,827,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +885,828,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +886,829,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +887,830,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +888,831,N,D,p.Asn831Asp,831.0,831.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434999-46434999","hg38,11:g.46434999T>C",0.371,"urinary_tract, bladder","carcinoma, carcinoma, transitional_cell_carcinoma",,,,,,,,,,,,,, +889,832,D,N,p.Asp832Asn,832.0,832.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434996-46434996","hg38,11:g.46434996C>T",0.214,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +890,833,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +891,834,S,G,p.Ser834Gly,834.0,834.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46456540-46456540, hg38,11:46434990-46434990","hg19,11:g.46456540T>C, hg38,11:g.46434990T>C",0.405,,,,,,,4640163,Uncertain significance,not specified,1,,,,,, +892,835,C,G,p.Cys835Gly,835.0,835.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434987-46434987","hg38,11:g.46434987A>C",0.602,"haematopoietic_and_lymphoid_tissue, haematopoietic_and_lymphoid_tissue, lymph_node","lymphoid_neoplasm, chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma, lymphoid_neoplasm, chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma, Richter_transformation",,,,,,,,,,,,,, +893,835,C,R,p.Cys835Arg,835.0,835.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434987-46434987","hg38,11:g.46434987A>G",0.658,"large_intestine, colon, ascending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +894,836,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +895,837,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +896,838,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +897,839,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +898,840,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +899,841,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +900,842,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +901,843,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +902,844,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +903,845,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +904,846,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +905,847,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +906,848,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +907,849,P,L,p.Pro849Leu,849.0,849.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434944-46434944","hg38,11:g.46434944G>A",0.559,breast,"carcinoma, metaplastic_carcinoma",,,,,,,,,,,,,, +908,850,S,I,p.Ser850Ile,850.0,850.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434941-46434941","hg38,11:g.46434941C>A",0.294,lung,"carcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +909,850,S,R,p.Ser850Arg,850.0,850.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434942-46434942","hg38,11:g.46434942T>G",0.194,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +910,851,S,R,p.Ser851Arg,851.0,851.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46434937-46434937","hg38,11:g.46434937G>T",0.245,pancreas,"carcinoid-endocrine_tumour, non_functioning",,,,,,,,,,,,,, +911,852,Q,H,p.Gln852His,852.0,852.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434934-46434934","hg38,11:g.46434934C>A",0.126,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +912,853,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +913,854,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +914,855,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +915,856,P,S,p.Pro856Ser,856.0,856.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46456474-46456474, hg38,11:46434924-46434924","hg19,11:g.46456474G>A, hg38,11:g.46434924G>A",0.367,"skin, skin, scalp","carcinoma, basal_cell_carcinoma, malignant_melanoma, malignant_melanoma, spitzoid",,,,,2545775,Uncertain significance,not specified,1,,,,,, +916,857,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +917,858,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +918,859,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +919,860,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +920,861,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +921,862,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +922,863,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +923,864,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +924,865,S,F,p.Ser865Phe,865.0,865.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434896-46434896","hg38,11:g.46434896G>A",0.598,"skin, skin, head_neck","carcinoma, squamous_cell_carcinoma, malignant_melanoma",,,,,,,,,,,,,, +925,866,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +926,867,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +927,868,P,S,p.Pro868Ser,868.0,868.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434888-46434888","hg38,11:g.46434888G>A",0.511,"skin, upper_back","adnexal_tumour, malignant_adnexal_tumour, eccrine_porocarcinoma",,,,,,,,,,,,,, +928,869,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +929,870,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +930,871,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +931,872,G,S,p.Gly872Ser,872.0,872.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434876-46434876","hg38,11:g.46434876C>T",0.385,prostate,carcinoma,,,,,,,,,,,,,, +932,873,E,G,p.Glu873Gly,873.0,873.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46456422-46456422, hg38,11:46434872-46434872","hg19,11:g.46456422T>C, hg38,11:g.46434872T>C",0.454,,,,,,,3534732,Uncertain significance,not specified,1,,,,,, +933,873,E,K,p.Glu873Lys,873.0,873.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434873-46434873","hg38,11:g.46434873C>T",0.363,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +934,874,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +935,875,L,F,p.Leu875Phe,875.0,875.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434867-46434867","hg38,11:g.46434867G>A",0.245,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +936,876,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +937,877,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +938,878,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +939,879,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +940,880,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +941,881,G,C,p.Gly881Cys,881.0,881.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46434849-46434849","hg38,11:g.46434849C>A",0.476,skin,malignant_melanoma,,,,,,,,,,,,,, +942,882,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +943,883,N,D,p.Asn883Asp,883.0,883.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433623-46433623","hg38,11:g.46433623T>C",0.291,liver,carcinoma,,,,,,,,,,,,,, +944,884,A,V,p.Ala884Val,884.0,884.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433619-46433619","hg38,11:g.46433619G>A",0.382,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +945,885,I,V,p.Ile885Val,885.0,885.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433617-46433617","hg38,11:g.46433617T>C",0.258,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +946,886,S,L,p.Ser886Leu,886.0,886.0,missense,"COSMIC,ClinVar",P,,,,,,,,,,,,NetPhos,,,"hg19,11:46455163-46455163, hg38,11:46433613-46433613","hg19,11:g.46455163G>A, hg38,11:g.46433613G>A",0.529,skin,"carcinoma, basal_cell_carcinoma, malignant_melanoma",,,,,4090693,Uncertain significance,not specified,1,,,,,, +947,887,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +948,888,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +949,889,L,Q,p.Leu889Gln,889.0,889.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433604-46433604","hg38,11:g.46433604A>T",0.502,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +950,890,S,F,p.Ser890Phe,890.0,890.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46433601-46433601","hg38,11:g.46433601G>A",0.532,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +951,891,P,L,p.Pro891Leu,891.0,891.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433598-46433598","hg38,11:g.46433598G>A",0.547,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +952,892,M,I,p.Met892Ile,892.0,892.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433594-46433594","hg38,11:g.46433594C>A",0.355,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +953,892,M,L,p.Met892Leu,892.0,892.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433596-46433596","hg38,11:g.46433596T>A",0.347,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +954,892,M,V,p.Met892Val,892.0,892.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46455146-46455146, hg38,11:46433596-46433596","hg19,11:g.46455146T>C, hg38,11:g.46433596T>C",0.356,lung,"carcinoma, carcinoma, squamous_cell_carcinoma",,,,,2553565,Uncertain significance,not specified,1,,,,,, +955,893,G,V,p.Gly893Val,893.0,893.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433592-46433592","hg38,11:g.46433592C>A",0.547,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +956,894,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +957,895,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +958,896,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +959,897,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +960,898,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +961,899,G,C,p.Gly899Cys,899.0,899.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433575-46433575","hg38,11:g.46433575C>A",0.573,lung,"carcinoma, large_cell_neuroendocrine_carcinoma",,,,,,,,,,,,,, +962,900,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +963,901,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +964,902,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +965,903,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +966,904,R,K,p.Arg904Lys,904.0,904.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433559-46433559","hg38,11:g.46433559C>T",0.447,"haematopoietic_and_lymphoid_tissue, central_nervous_system","lymphoid_neoplasm, primary_central_nervous_system_lymphoma",,,,,,,,,,,,,, +967,904,R,S,p.Arg904Ser,904.0,904.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433558-46433558","hg38,11:g.46433558C>G",0.293,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +968,905,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +969,906,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +970,907,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +971,908,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +972,909,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +973,910,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +974,911,T,A,p.Thr911Ala,911.0,911.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46455089-46455089, hg38,11:46433539-46433539","hg19,11:g.46455089T>C, hg38,11:g.46433539T>C",0.398,,,,,,,2308603,Uncertain significance,not specified,1,,,,,, +975,912,E,K,p.Glu912Lys,912.0,912.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433536-46433536","hg38,11:g.46433536C>T",0.241,"upper_aerodigestive_tract, mouth",carcinoma,,,,,,,,,,,,,, +976,913,H,Q,p.His913Gln,913.0,913.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433531-46433531","hg38,11:g.46433531G>T",0.239,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, +977,914,M,V,p.Met914Val,914.0,914.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46455080-46455080, hg38,11:46433530-46433530","hg19,11:g.46455080T>C, hg38,11:g.46433530T>C",0.365,,,,,,,869205,Uncertain significance,Neural tube defect,0,,,,,, +978,915,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +979,916,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +980,917,Q,H,p.Gln917His,917.0,917.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433519-46433519","hg38,11:g.46433519C>A",0.270,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +981,918,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +982,919,F,L,p.Phe919Leu,919.0,919.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433513-46433513","hg38,11:g.46433513G>T",0.368,liver,"carcinoma, hepatocellular_carcinoma",,,,,,,,,,,,,, +983,920,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +984,921,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +985,922,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +986,923,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +987,924,A,V,p.Ala924Val,924.0,924.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46455049-46455049, hg38,11:46433499-46433499","hg19,11:g.46455049G>A, hg38,11:g.46433499G>A",0.249,,,,,,,3114816,Uncertain significance,not specified,1,,,,,, +988,925,H,Y,p.His925Tyr,925.0,925.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46455047-46455047, hg38,11:46433497-46433497","hg19,11:g.46455047G>A, hg38,11:g.46433497G>A",0.438,,,,,,,3860358,Uncertain significance,not specified,1,,,,,, +989,926,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +990,927,G,V,p.Gly927Val,927.0,927.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433490-46433490","hg38,11:g.46433490C>A",0.524,skin,malignant_melanoma,,,,,,,,,,,,,, +991,928,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +992,929,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +993,930,S,Y,p.Ser930Tyr,930.0,930.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46433481-46433481","hg38,11:g.46433481G>T",0.486,skin,malignant_melanoma,,,,,,,,,,,,,, +994,931,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +995,932,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +996,933,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +997,934,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +998,935,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +999,936,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1000,937,V,I,p.Val937Ile,937.0,937.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46439590-46439590, hg38,11:46418040-46418040","hg19,11:g.46439590C>T, hg38,11:g.46418040C>T",0.241,,,,,,,2385069,Uncertain significance,not specified,1,,,,,, +1001,938,L,P,p.Leu938Pro,938.0,938.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46439586-46439586, hg38,11:46418036-46418036","hg19,11:g.46439586A>G, hg38,11:g.46418036A>G",0.661,,,,,,,3114825,Uncertain significance,not specified,1,,,,,, +1002,939,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1003,940,P,L,p.Pro940Leu,940.0,940.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46418030-46418030","hg38,11:g.46418030G>A",0.694,"skin, thyroid","carcinoma, malignant_melanoma",,,,,,,,,,,,,, +1004,941,M,I,p.Met941Ile,941.0,941.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46418026-46418026","hg38,11:g.46418026C>A",0.282,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +1005,942,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1006,943,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1007,944,D,Y,p.Asp944Tyr,944.0,944.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46439569-46439569, hg38,11:46418019-46418019","hg19,11:g.46439569C>A, hg38,11:g.46418019C>A",0.509,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,4371818,,,,,,,,, +1008,945,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1009,946,R,Q,p.Arg946Gln,946.0,946.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46418012-46418012","hg38,11:g.46418012C>T",0.363,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1010,946,R,W,p.Arg946Trp,946.0,946.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46418013-46418013","hg38,11:g.46418013G>A",0.636,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +1011,947,R,I,p.Arg947Ile,947.0,947.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46418009-46418009","hg38,11:g.46418009C>A",0.580,lung,carcinoma,,,,,,,,,,,,,, +1012,948,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1013,949,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1014,950,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1015,951,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1016,952,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1017,953,S,C,p.Ser953Cys,953.0,953.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46417991-46417991","hg38,11:g.46417991G>C",0.389,ovary,"carcinoma, serous_carcinoma",,,,,,,,,,,,,, +1018,954,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1019,955,R,H,p.Arg955His,955.0,955.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46439535-46439535, hg38,11:46417985-46417985","hg19,11:g.46439535C>T, hg38,11:g.46417985C>T",0.445,"large_intestine, colon, transverse","carcinoma, adenocarcinoma",,,,,4046048,Uncertain significance,not specified,1,,,,,, +1020,956,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1021,957,L,P,p.Leu957Pro,957.0,957.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46417979-46417979","hg38,11:g.46417979A>G",0.571,"central_nervous_system, brain","glioma, astrocytoma_Grade_III, anaplastic",,,,,,,,,,,,,, +1022,958,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1023,959,E,D,p.Glu959Asp,959.0,959.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46417972-46417972","hg38,11:g.46417972C>A",0.070,liver,carcinoma,,,,,,,,,,,,,, +1024,960,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1025,961,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1026,962,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1027,963,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1028,964,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1029,965,A,T,p.Ala965Thr,965.0,965.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46417956-46417956","hg38,11:g.46417956C>T",0.410,"upper_aerodigestive_tract, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1030,966,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1031,967,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1032,968,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1033,969,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1034,970,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1035,971,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1036,972,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1037,973,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1038,974,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1039,975,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1040,976,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1041,977,R,Q,p.Arg977Gln,977.0,977.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46439469-46439469, hg38,11:46417919-46417919","hg19,11:g.46439469C>T, hg38,11:g.46417919C>T",0.454,,,,,,,4046017,Uncertain significance,not specified,1,,,,,, +1042,978,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1043,979,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1044,980,A,D,p.Ala980Asp,980.0,980.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46410366-46410366","hg38,11:g.46410366G>T",0.478,liver,"other, neoplasm",,,,,,,,,,,,,, +1045,981,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1046,982,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1047,983,S,F,p.Ser983Phe,983.0,983.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46431907-46431907, hg38,11:46410357-46410357","hg19,11:g.46431907G>A, hg38,11:g.46410357G>A",0.314,,,,,,,869206,Uncertain significance,Neural tube defect,0,,,,,, +1048,984,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1049,985,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1050,986,E,K,p.Glu986Lys,986.0,986.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46431899-46431899, hg38,11:46410349-46410349","hg19,11:g.46431899C>T, hg38,11:g.46410349C>T",0.462,,,,,,,3114832,Uncertain significance,not specified,1,,,,,, +1051,987,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1052,988,Y,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1053,989,W,C,p.Trp989Cys,989.0,989.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46410338-46410338","hg38,11:g.46410338C>A",0.489,skin,malignant_melanoma,,,,,,,,,,,,,, +1054,989,W,L,p.Trp989Leu,989.0,989.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46410339-46410339","hg38,11:g.46410339C>A",0.427,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1055,990,D,G,p.Asp990Gly,990.0,990.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46410336-46410336","hg38,11:g.46410336T>C",0.375,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1056,991,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1057,992,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1058,993,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1059,994,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1060,995,T,M,p.Thr995Met,995.0,995.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46431871-46431871, hg38,11:46410321-46410321","hg19,11:g.46431871G>A, hg38,11:g.46410321G>A",0.199,"skin, mucosal, anorectal",malignant_melanoma,,,,,2636716,Uncertain significance,AMBRA1-related disorder,1,,,,,, +1061,996,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1062,997,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1063,998,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1064,999,V,I,p.Val999Ile,999.0,999.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46431860-46431860, hg38,11:46410310-46410310","hg19,11:g.46431860C>T, hg38,11:g.46410310C>T",0.072,,,,,,,2540529,Uncertain significance,not specified,1,,,,,, +1065,1000,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1066,1001,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1067,1002,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1068,1003,S,N,p.Ser1003Asn,1003.0,1003.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46410297-46410297","hg38,11:g.46410297C>T",0.128,"skin, head_neck","malignant_melanoma, superficial_spreading",,,,,,,,,,,,,, +1069,1003,S,T,p.Ser1003Thr,1003.0,1003.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46431847-46431847, hg38,11:46410297-46410297","hg19,11:g.46431847C>G, hg38,11:g.46410297C>G",0.092,,,,,,,2517107,Uncertain significance,not specified,1,,,,,, +1070,1004,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1071,1005,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1072,1006,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1073,1007,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1074,1008,R,Q,p.Arg1008Gln,1008.0,1008.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46431832-46431832, hg38,11:46410282-46410282","hg19,11:g.46431832C>T, hg38,11:g.46410282C>T",0.231,,,,,,,3114845,Uncertain significance,not specified,1,,,,,, +1075,1008,R,W,p.Arg1008Trp,1008.0,1008.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46410283-46410283","hg38,11:g.46410283G>A",0.399,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1076,1009,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1077,1010,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1078,1011,T,I,p.Thr1011Ile,1011.0,1011.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46430254-46430254, hg38,11:46408704-46408704","hg19,11:g.46430254G>A, hg38,11:g.46408704G>A",0.198,,,,,,,3860339,Uncertain significance,not specified,1,,,,,, +1079,1012,S,N,p.Ser1012Asn,1012.0,1012.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46408701-46408701","hg38,11:g.46408701C>T",0.128,lung,"carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +1080,1013,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1081,1014,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1082,1015,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1083,1016,W,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1084,1017,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1085,1018,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1086,1019,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1087,1020,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1088,1021,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1089,1022,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1090,1023,G,V,p.Gly1023Val,1023.0,1023.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46430218-46430218, hg38,11:46408668-46408668","hg19,11:g.46430218C>A, hg38,11:g.46408668C>A",0.704,,,,,,,4090665,Uncertain significance,not specified,1,,,,,, +1091,1023,G,W,p.Gly1023Trp,1023.0,1023.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408669-46408669","hg38,11:g.46408669C>A",0.702,skin,malignant_melanoma,,,,,,,,,,,,,, +1092,1024,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1093,1025,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1094,1026,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1095,1027,A,V,p.Ala1027Val,1027.0,1027.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408656-46408656","hg38,11:g.46408656G>A",0.419,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1096,1028,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1097,1029,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1098,1030,L,F,p.Leu1030Phe,1030.0,1030.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408648-46408648","hg38,11:g.46408648G>A",0.535,breast,carcinoma,,,,,,,,,,,,,, +1099,1031,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1100,1032,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1101,1033,R,Q,p.Arg1033Gln,1033.0,1033.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408638-46408638","hg38,11:g.46408638C>T",0.085,"skin, ear","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1102,1033,R,W,p.Arg1033Trp,1033.0,1033.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408639-46408639","hg38,11:g.46408639G>A",0.413,liver,"other, neoplasm",,,,,,,,,,,,,, +1103,1034,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1104,1035,P,S,p.Pro1035Ser,1035.0,1035.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408633-46408633","hg38,11:g.46408633G>A",0.426,"haematopoietic_and_lymphoid_tissue, mediastinum","lymphoid_neoplasm, primary_mediastinal_diffuse_large_B_cell_lymphoma",,,,,,,,,,,,,, +1105,1036,A,T,p.Ala1036Thr,1036.0,1036.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46430180-46430180, hg38,11:46408630-46408630","hg19,11:g.46430180C>T, hg38,11:g.46408630C>T",0.082,,,,,,,2221144,Likely benign,not specified,1,,,,,, +1106,1037,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1107,1038,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1108,1039,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1109,1040,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1110,1041,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1111,1042,Q,P,p.Gln1042Pro,1042.0,1042.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408611-46408611","hg38,11:g.46408611T>G",0.433,parathyroid,carcinoma,,,,,,,,,,,,,, +1112,1043,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1113,1044,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1114,1045,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1115,1046,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1116,1047,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1117,1048,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1118,1049,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1119,1050,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1120,1051,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1121,1052,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1122,1053,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1123,1054,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1124,1055,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1125,1056,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1126,1057,Q,K,p.Gln1057Lys,1057.0,1057.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408567-46408567","hg38,11:g.46408567G>T",0.422,liver,"other, neoplasm",,,,,,,,,,,,,, +1127,1058,T,I,p.Thr1058Ile,1058.0,1058.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46408563-46408563","hg38,11:g.46408563G>A",0.427,"large_intestine, large_intestine, colon","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1128,1059,E,Q,p.Glu1059Gln,1059.0,1059.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408561-46408561","hg38,11:g.46408561C>G",0.312,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1129,1060,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1130,1061,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1131,1062,V,M,p.Val1062Met,1062.0,1062.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408552-46408552","hg38,11:g.46408552C>T",0.092,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1132,1063,P,S,p.Pro1063Ser,1063.0,1063.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408549-46408549","hg38,11:g.46408549G>A",0.080,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1133,1064,E,D,p.Glu1064Asp,1064.0,1064.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408544-46408544","hg38,11:g.46408544C>A",0.290,"lung, middle_lobe","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1134,1065,P,L,p.Pro1065Leu,1065.0,1065.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408542-46408542","hg38,11:g.46408542G>A",0.068,"skin, skin, lower_leg",malignant_melanoma,,,,,,,,,,,,,, +1135,1066,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1136,1067,T,A,p.Thr1067Ala,1067.0,1067.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46430087-46430087, hg38,11:46408537-46408537","hg19,11:g.46430087T>C, hg38,11:g.46408537T>C",0.043,,,,,,,3860414,Likely benign,not specified,1,,,,,, +1137,1068,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1138,1069,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1139,1070,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1140,1071,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1141,1072,P,L,p.Pro1072Leu,1072.0,1072.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408521-46408521","hg38,11:g.46408521G>A",0.113,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1142,1073,G,D,p.Gly1073Asp,1073.0,1073.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46408518-46408518","hg38,11:g.46408518C>T",0.098,skin,"malignant_melanoma, nodular",,,,,,,,,,,,,, +1143,1074,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1144,1075,G,D,p.Gly1075Asp,1075.0,1075.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419493-46419493, hg38,11:46397943-46397943","hg19,11:g.46419493C>T, hg38,11:g.46397943C>T",0.206,,,,,,,3114849,Uncertain significance,not specified,1,,,,,, +1145,1076,E,K,p.Glu1076Lys,1076.0,1076.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397941-46397941","hg38,11:g.46397941C>T",0.176,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1146,1077,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1147,1078,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1148,1079,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1149,1080,Y,C,p.Tyr1080Cys,1080.0,1080.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397928-46397928","hg38,11:g.46397928T>C",0.194,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1150,1081,G,C,p.Gly1081Cys,1081.0,1081.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397926-46397926","hg38,11:g.46397926C>A",0.297,skin,malignant_melanoma,,,,,,,,,,,,,, +1151,1082,A,V,p.Ala1082Val,1082.0,1082.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46419472-46419472, hg38,11:46397922-46397922","hg19,11:g.46419472G>A, hg38,11:g.46397922G>A",0.105,liver,"other, neoplasm",,,,,4640160,Uncertain significance,not specified,1,,,,,, +1152,1083,S,C,p.Ser1083Cys,1083.0,1083.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397920-46397920","hg38,11:g.46397920T>A",0.210,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, +1153,1083,S,G,p.Ser1083Gly,1083.0,1083.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46419470-46419470, hg38,11:46397920-46397920","hg19,11:g.46419470T>C, hg38,11:g.46397920T>C",0.095,,,,,,,4090683,Likely benign,not specified,1,,,,,, +1154,1084,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1155,1085,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1156,1086,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1157,1087,A,G,p.Ala1087Gly,1087.0,1087.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419457-46419457, hg38,11:46397907-46397907","hg19,11:g.46419457G>C, hg38,11:g.46397907G>C",0.344,,,,,,,3534747,Uncertain significance,not specified,1,,,,,, +1158,1087,A,V,p.Ala1087Val,1087.0,1087.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419457-46419457, hg38,11:46397907-46397907","hg19,11:g.46419457G>A, hg38,11:g.46397907G>A",0.358,,,,,,,3114852,Uncertain significance,not specified,1,,,,,, +1159,1088,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1160,1089,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1161,1090,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1162,1091,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1163,1092,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1164,1093,R,K,p.Arg1093Lys,1093.0,1093.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419439-46419439, hg38,11:46397889-46397889","hg19,11:g.46419439C>T, hg38,11:g.46397889C>T",0.528,,,,,,,2275458,Uncertain significance,not specified,1,,,,,, +1165,1094,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1166,1095,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1167,1096,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1168,1097,E,G,p.Glu1097Gly,1097.0,1097.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397877-46397877","hg38,11:g.46397877T>C",0.441,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1169,1098,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1170,1099,G,S,p.Gly1099Ser,1099.0,1099.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397872-46397872","hg38,11:g.46397872C>T",0.718,stomach,carcinoma,,,,,,,,,,,,,, +1171,1100,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1172,1101,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1173,1102,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1174,1103,V,M,p.Val1103Met,1103.0,1103.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397860-46397860","hg38,11:g.46397860C>T",0.434,"large_intestine, colon, descending","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1175,1104,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1176,1105,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1177,1106,R,L,p.Arg1106Leu,1106.0,1106.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397850-46397850","hg38,11:g.46397850C>A",0.623,skin,malignant_melanoma,,,,,,,,,,,,,, +1178,1106,R,W,p.Arg1106Trp,1106.0,1106.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419401-46419401, hg38,11:46397851-46397851","hg19,11:g.46419401G>A, hg38,11:g.46397851G>A",0.550,,,,,,,4090596,Uncertain significance,not specified,1,,,,,, +1179,1107,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1180,1108,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1181,1109,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1182,1110,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1183,1111,T,N,p.Thr1111Asn,1111.0,1111.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397835-46397835","hg38,11:g.46397835G>T",0.335,liver,carcinoma,,,,,,,,,,,,,, +1184,1112,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1185,1113,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1186,1114,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1187,1115,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1188,1116,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1189,1117,G,S,p.Gly1117Ser,1117.0,1117.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419368-46419368, hg38,11:46397818-46397818","hg19,11:g.46419368C>T, hg38,11:g.46397818C>T",0.410,,,,,,,4090566,Uncertain significance,not specified,1,,,,,, +1190,1118,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1191,1119,G,S,p.Gly1119Ser,1119.0,1119.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397812-46397812","hg38,11:g.46397812C>T",0.580,stomach,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1192,1120,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1193,1121,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1194,1122,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1195,1123,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1196,1124,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1197,1125,S,N,p.Ser1125Asn,1125.0,1125.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397793-46397793","hg38,11:g.46397793C>T",0.399,skin,malignant_melanoma,,,,,,,,,,,,,, +1198,1126,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1199,1127,R,C,p.Arg1127Cys,1127.0,1127.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419338-46419338, hg38,11:46397788-46397788","hg19,11:g.46419338G>A, hg38,11:g.46397788G>A",0.624,,,,,,,4090632,Uncertain significance,not specified,1,,,,,, +1200,1127,R,H,p.Arg1127His,1127.0,1127.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397787-46397787","hg38,11:g.46397787C>T",0.508,stomach,carcinoma,,,,,,,,,,,,,, +1201,1127,R,L,p.Arg1127Leu,1127.0,1127.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419337-46419337, hg38,11:46397787-46397787","hg19,11:g.46419337C>A, hg38,11:g.46397787C>A",0.651,,,,,,,4046072,Uncertain significance,not specified,1,,,,,, +1202,1128,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1203,1129,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1204,1130,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1205,1131,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1206,1132,S,A,p.Ser1132Ala,1132.0,1132.0,missense,ClinVar,P,,,,,,,,,,,,NetPhos,,,"hg19,11:46419323-46419323, hg38,11:46397773-46397773","hg19,11:g.46419323A>C, hg38,11:g.46397773A>C",0.335,,,,,,,2331452,Uncertain significance,not specified,1,,,,,, +1207,1133,Q,E,p.Gln1133Glu,1133.0,1133.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397770-46397770","hg38,11:g.46397770G>C",0.392,breast,"carcinoma, ductal_carcinoma",,,,,,,,,,,,,, +1208,1134,T,M,p.Thr1134Met,1134.0,1134.0,missense,"COSMIC,ClinVar",P,,,,,,,,,,,,NetPhos,,,"hg19,11:46419316-46419316, hg38,11:46397766-46397766","hg19,11:g.46419316G>A, hg38,11:g.46397766G>A",0.437,"large_intestine, caecum, stomach","carcinoma, adenocarcinoma",,,,,3534741,Uncertain significance,not specified,1,,,,,, +1209,1135,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1210,1136,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1211,1137,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1212,1138,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1213,1139,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1214,1140,A,S,p.Ala1140Ser,1140.0,1140.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397749-46397749","hg38,11:g.46397749C>A",0.113,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1215,1141,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1216,1142,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1217,1143,T,N,p.Thr1143Asn,1143.0,1143.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397739-46397739","hg38,11:g.46397739G>T",0.100,breast,carcinoma,,,,,,,,,,,,,, +1218,1144,S,F,p.Ser1144Phe,1144.0,1144.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397736-46397736","hg38,11:g.46397736G>A",0.074,skin,malignant_melanoma,,,,,,,,,,,,,, +1219,1145,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1220,1146,P,L,p.Pro1146Leu,1146.0,1146.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419280-46419280, hg38,11:46397730-46397730","hg19,11:g.46419280G>A, hg38,11:g.46397730G>A",0.171,,,,,,,2214651,Uncertain significance,not specified,1,,,,,, +1221,1147,Q,R,p.Gln1147Arg,1147.0,1147.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397727-46397727","hg38,11:g.46397727T>C",0.150,"large_intestine, colon, sigmoid","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1222,1148,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1223,1149,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1224,1150,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1225,1151,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1226,1152,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1227,1153,G,E,p.Gly1153Glu,1153.0,1153.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419259-46419259, hg38,11:46397709-46397709","hg19,11:g.46419259C>T, hg38,11:g.46397709C>T",0.045,,,,,,,2589176,Uncertain significance,not specified,1,,,,,, +1228,1154,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1229,1155,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1230,1156,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1231,1157,E,D,p.Glu1157Asp,1157.0,1157.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397696-46397696","hg38,11:g.46397696C>A",0.177,"large_intestine, large_intestine, colon, upper_aerodigestive_tract, head_neck","carcinoma, carcinoma, adenocarcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1232,1158,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1233,1159,G,E,p.Gly1159Glu,1159.0,1159.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397691-46397691","hg38,11:g.46397691C>T",0.055,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1234,1159,G,R,p.Gly1159Arg,1159.0,1159.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397692-46397692","hg38,11:g.46397692C>T",0.096,"large_intestine, rectum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1235,1159,G,W,p.Gly1159Trp,1159.0,1159.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397692-46397692","hg38,11:g.46397692C>A",0.147,kidney,"carcinoma, papillary_renal_cell_carcinoma",,,,,,,,,,,,,, +1236,1160,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1237,1161,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1238,1162,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1239,1163,E,G,p.Glu1163Gly,1163.0,1163.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397679-46397679","hg38,11:g.46397679T>C",0.378,oesophagus,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1240,1164,R,Q,p.Arg1164Gln,1164.0,1164.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46419226-46419226, hg38,11:46397676-46397676","hg19,11:g.46419226C>T, hg38,11:g.46397676C>T",0.127,cervix,"carcinoma, squamous_cell_carcinoma",,,,,3534680,Uncertain significance,not specified,1,,,,,, +1241,1165,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1242,1166,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1243,1167,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1244,1168,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1245,1169,R,Q,p.Arg1169Gln,1169.0,1169.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419211-46419211, hg38,11:46397661-46397661","hg19,11:g.46419211C>T, hg38,11:g.46397661C>T",0.340,,,,,,,4046054,Uncertain significance,not specified,1,,,,,, +1246,1169,R,W,p.Arg1169Trp,1169.0,1169.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419212-46419212, hg38,11:46397662-46397662","hg19,11:g.46419212G>A, hg38,11:g.46397662G>A",0.485,,,,,,,3114868,Uncertain significance,not specified,1,,,,,, +1247,1170,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1248,1171,A,P,p.Ala1171Pro,1171.0,1171.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397656-46397656","hg38,11:g.46397656C>G",0.237,breast,carcinoma,,,,,,,,,,,,,, +1249,1172,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1250,1173,W,C,p.Trp1173Cys,1173.0,1173.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397648-46397648","hg38,11:g.46397648C>A",0.213,lung,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1251,1174,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1252,1175,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1253,1176,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1254,1177,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1255,1178,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1256,1179,P,L,p.Pro1179Leu,1179.0,1179.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419181-46419181, hg38,11:46397631-46397631","hg19,11:g.46419181G>A, hg38,11:g.46397631G>A",0.091,,,,,,,3292343,Uncertain significance,not specified,1,,,,,, +1257,1180,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1258,1181,R,Q,p.Arg1181Gln,1181.0,1181.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397625-46397625","hg38,11:g.46397625C>T",0.059,"large_intestine, large_intestine, rectum","adenoma, tubular, high_grade_dysplasia, carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1259,1181,R,W,p.Arg1181Trp,1181.0,1181.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46419176-46419176, hg38,11:46397626-46397626","hg19,11:g.46419176G>A, hg38,11:g.46397626G>A",0.212,"central_nervous_system, brain, endometrium, large_intestine, oesophagus, soft_tissue","carcinoma, adenocarcinoma, carcinoma, endometrioid_carcinoma, glioma, primitive_neuroectodermal_tumour-medulloblastoma, sarcoma",,,,,3534685,Uncertain significance,not specified,1,,,,,, +1260,1182,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1261,1183,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1262,1184,T,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +1263,1185,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1264,1186,P,Q,p.Pro1186Gln,1186.0,1186.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397610-46397610","hg38,11:g.46397610G>T",0.138,skin,malignant_melanoma,,,,,,,,,,,,,, +1265,1187,T,I,p.Thr1187Ile,1187.0,1187.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419157-46419157, hg38,11:46397607-46397607","hg19,11:g.46419157G>A, hg38,11:g.46397607G>A",0.188,,,,,,,4046028,Uncertain significance,not specified,1,,,,,, +1266,1188,L,M,p.Leu1188Met,1188.0,1188.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397605-46397605","hg38,11:g.46397605G>T",0.233,skin,malignant_melanoma,,,,,,,,,,,,,, +1267,1189,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1268,1190,S,Y,p.Ser1190Tyr,1190.0,1190.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397598-46397598","hg38,11:g.46397598G>T",0.092,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1269,1191,S,F,p.Ser1191Phe,1191.0,1191.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397595-46397595","hg38,11:g.46397595G>A",0.244,"skin, trunk","malignant_melanoma, desmoplastic",,,,,,,,,,,,,, +1270,1192,S,F,p.Ser1192Phe,1192.0,1192.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397592-46397592","hg38,11:g.46397592G>A",0.187,"skin, head_neck, skin, upper_arm","carcinoma, squamous_cell_carcinoma, malignant_melanoma, desmoplastic",,,,,,,,,,,,,, +1271,1193,P,S,p.Pro1193Ser,1193.0,1193.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419140-46419140, hg38,11:46397590-46397590","hg19,11:g.46419140G>A, hg38,11:g.46397590G>A",0.091,,,,,,,2523012,Uncertain significance,not specified,1,,,,,, +1272,1194,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1273,1195,P,S,p.Pro1195Ser,1195.0,1195.0,missense,"COSMIC,ClinVar",,,,,,,,,,,,,,,,"hg19,11:46419134-46419134, hg38,11:46397584-46397584","hg19,11:g.46419134G>A, hg38,11:g.46397584G>A",0.059,"skin, head_neck","carcinoma, squamous_cell_carcinoma",,,,,4046092,Uncertain significance,not specified,1,,,,,, +1274,1196,I,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1275,1197,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1276,1198,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1277,1199,S,A,p.Ser1199Ala,1199.0,1199.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419122-46419122, hg38,11:46397572-46397572","hg19,11:g.46419122A>C, hg38,11:g.46397572A>C",0.046,,,,,,,4834181,Uncertain significance,not specified,1,,,,,, +1278,1199,S,P,p.Ser1199Pro,1199.0,1199.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419122-46419122, hg38,11:46397572-46397572","hg19,11:g.46419122A>G, hg38,11:g.46397572A>G",0.076,,,,,,,3534684,Likely benign,not specified,1,,,,,, +1279,1200,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1280,1201,P,L,p.Pro1201Leu,1201.0,1201.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397565-46397565","hg38,11:g.46397565G>A",0.079,"endometrium, lung","carcinoma, endometrioid_carcinoma, carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1281,1202,S,G,p.Ser1202Gly,1202.0,1202.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397563-46397563","hg38,11:g.46397563T>C",0.089,"large_intestine, colon, transverse","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +1282,1203,A,P,p.Ala1203Pro,1203.0,1203.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397560-46397560","hg38,11:g.46397560C>G",0.166,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +1283,1204,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1284,1205,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1285,1206,P,L,p.Pro1206Leu,1206.0,1206.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397550-46397550","hg38,11:g.46397550G>A",0.445,"biliary_tract, gallbladder","carcinoma, small_cell_carcinoma",,,,,,,,,,,,,, +1286,1207,T,N,p.Thr1207Asn,1207.0,1207.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419097-46419097, hg38,11:46397547-46397547","hg19,11:g.46419097G>T, hg38,11:g.46397547G>T",0.153,,,,,,,2608803,Uncertain significance,not specified,1,,,,,, +1287,1208,L,H,p.Leu1208His,1208.0,1208.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419094-46419094, hg38,11:46397544-46397544","hg19,11:g.46419094A>T, hg38,11:g.46397544A>T",0.080,,,,,,,4090689,Uncertain significance,not specified,1,,,,,, +1288,1209,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1289,1210,C,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1290,1211,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1291,1212,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1292,1213,T,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1293,1214,N,S,p.Asn1214Ser,1214.0,1214.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419076-46419076, hg38,11:46397526-46397526","hg19,11:g.46419076T>C, hg38,11:g.46397526T>C",0.181,,,,,,,2389222,Likely benign,not specified,1,,,,,, +1294,1215,N,D,p.Asn1215Asp,1215.0,1215.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397524-46397524","hg38,11:g.46397524T>C",0.127,skin,malignant_melanoma,,,,,,,,,,,,,, +1295,1216,N,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1296,1217,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1297,1218,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1298,1219,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1299,1220,D,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1300,1221,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1301,1222,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1302,1223,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1303,1224,S,N,p.Ser1224Asn,1224.0,1224.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,11:46397496-46397496","hg38,11:g.46397496C>T",0.090,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +1304,1225,R,T,p.Arg1225Thr,1225.0,1225.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419043-46419043, hg38,11:46397493-46397493","hg19,11:g.46419043C>G, hg38,11:g.46397493C>G",0.085,,,,,,,2458405,Uncertain significance,not specified,1,,,,,, +1305,1226,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1306,1227,D,G,p.Asp1227Gly,1227.0,1227.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397487-46397487","hg38,11:g.46397487T>C",0.172,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, diffuse_large_B_cell_lymphoma",,,,,,,,,,,,,, +1307,1228,A,T,p.Ala1228Thr,1228.0,1228.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419035-46419035, hg38,11:46397485-46397485","hg19,11:g.46419035C>T, hg38,11:g.46397485C>T",0.132,,,,,,,4090529,Uncertain significance,not specified,1,,,,,, +1308,1229,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1309,1230,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1310,1231,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1311,1232,R,G,p.Arg1232Gly,1232.0,1232.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419023-46419023, hg38,11:46397473-46397473","hg19,11:g.46419023T>C, hg38,11:g.46397473T>C",0.067,,,,,,,2629998,Uncertain significance,AMBRA1-related disorder,1,,,,,, +1312,1232,R,K,p.Arg1232Lys,1232.0,1232.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397472-46397472","hg38,11:g.46397472C>T",0.109,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +1313,1233,G,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1314,1234,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1315,1235,P,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1316,1236,R,W,p.Arg1236Trp,1236.0,1236.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,11:46419011-46419011, hg38,11:46397461-46397461","hg19,11:g.46419011G>A, hg38,11:g.46397461G>A",0.269,,,,,,,3860349,Uncertain significance,not specified,1,,,,,, +1317,1237,N,K,p.Asn1237Lys,1237.0,1237.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,11:46397456-46397456","hg38,11:g.46397456G>T",0.135,liver,"other, neoplasm",,,,,,,,,,,,,, +1318,1238,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, diff --git a/docs/metatable_pancancer.csv b/docs/metatable_pancancer.csv index ddf54fe8..f3e82371 100644 --- a/docs/metatable_pancancer.csv +++ b/docs/metatable_pancancer.csv @@ -1,145 +1,145 @@ -,aa_position,ref_aa,alt_aa,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,ptm_sources,linear_motif,structure,sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status -0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -1,2,P,R,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87426038-87426038, hg38,16:87392432-87392432","hg19,16:g.87426038C>G, hg38,16:g.87392432C>G",0.145,,,0.0000000000000000,,,,2358122,Uncertain significance,not specified,1,,,,,, -2,2,P,S,,,,,,,,,,,,,,cBioPortal,"ccle_broad_2019, ccle_broad_2025, ccle_genentech_2014",Mixed Cancer Types,"hg19,16:87392431-87392431, hg19,16:87426037-87426037","hg19,16:g.87392431C>T, hg19,16:g.87426037C>T",0.055,,,0.0000405975966223,,,,,,,,,,,,, -3,3,S,L,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,16:87392435-87392435","hg38,16:g.87392435C>T",0.227,"eye, urinary_tract, bladder","carcinoma, small_cell_carcinoma, retinoblastoma",0.0012579161967554,,,,,,,,,,,,, -4,3,S,W,P,,,,,,,,,,NetPhos,,,COSMIC,,,"hg38,16:87392435-87392435","hg38,16:g.87392435C>G",0.158,oesophagus,"carcinoma, squamous_cell_carcinoma",0.0000216882102889,0.0000321957501610,,,,,,,,,,,, -5,4,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -6,5,K,,,,Ubq,,,,,,,,PhosphoSite,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -7,6,T,,P,,,,,,,,,,"NetPhos,PhosphoSite,dbPTM","PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -8,7,F,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, -9,8,K,N,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,COSMIC,,,"hg38,16:87392451-87392451","hg38,16:g.87392451G>T",0.159,"skin, back","adnexal_tumour, malignant_adnexal_tumour, spiradenocarcinoma",0.0000000000000000,,,,,,,,,,,,, -10,9,Q,H,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,cBioPortal,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87426060-87426060","hg19,16:g.87426060G>C",0.156,,,,,,,,,,,,,,,, -11,10,R,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -12,11,R,L,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,"cBioPortal,ClinVar",lusc_cptac_2021,Lung Squamous Cell Carcinoma,"hg19,16:87426065-87426065, hg38,16:87392459-87392459","hg19,16:g.87426065G>T, hg38,16:g.87392459G>T",0.226,,,0.0000000000000000,,,,2226367,Uncertain significance,not specified,1,,,,,, -13,12,T,S,P,,,,,,,,,,"NetPhos,PhosphoSite","NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,COSMIC,,,"hg38,16:87392461-87392461","hg38,16:g.87392461A>T",0.097,"haematopoietic_and_lymphoid_tissue, abdomen","lymphoid_neoplasm, Burkitt_lymphoma, endemic_variant",,,,,,,,,,,,,, -14,13,F,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -15,14,E,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, -16,15,Q,R,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,,,3542641,Uncertain significance,not specified,1,,,,,, -17,16,R,G,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87398820-87398820","hg38,16:g.87398820A>G",0.762,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -18,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -19,18,E,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,19,D,Y,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,cBioPortal,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, -21,20,V,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,21,R,G,,Me,,,,,,,,,PhosphoSite,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,cBioPortal,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, -23,21,R,Q,,Me,,,,,,,,,PhosphoSite,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,"cBioPortal,COSMIC","coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, -24,22,L,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -25,23,I,F,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,"cBioPortal,COSMIC",nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -26,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -27,25,E,Q,,,,,,,,,,,,,,"cBioPortal,ClinVar",prad_msk_mdanderson_2023,Prostate,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,,,781343,Benign,not provided,1,,,,,, -28,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -29,27,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -30,28,P,L,,,,,,,,,,,,,,"cBioPortal,COSMIC","skcm_tcga_gdc, skcm_tcga_pan_can_atlas_2018, skcm_tcga_pub_2015",Cutaneous Melanoma,"hg19,16:87398857-87398857, hg19,16:87432463-87432463, hg38,16:87398857-87398857","hg19,16:g.87398857C>T, hg19,16:g.87432463C>T, hg38,16:g.87398857C>T",0.411,skin,malignant_melanoma,,,,,,,,,,,,,, -31,29,T,A,P,,,,,,,,,,"PhosphoSite,dbPTM",,,"cBioPortal,COSMIC",gbc_shanghai_2014,Gallbladder Cancer,"hg19,16:87432465-87432465, hg38,16:87398859-87398859","hg19,16:g.87432465A>G, hg38,16:g.87398859A>G",0.147,"biliary_tract, gallbladder","carcinoma, adenocarcinoma",,0.0000955170657157,,,,,,,,,,,, -32,29,T,I,P,,,,,,,,,,"PhosphoSite,dbPTM",,,ClinVar,,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,,,2493543,Uncertain significance,not specified,1,,,,,, -33,29,T,N,P,,,,,,,,,,"PhosphoSite,dbPTM",,,ClinVar,,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,,,4051121,Uncertain significance,not specified,1,,,,,, -34,30,K,,,,Ubq,,,Ac,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,,,,, -35,31,I,N,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,cBioPortal,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, -36,32,P,L,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,"cBioPortal,COSMIC",bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -37,32,P,Q,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,cBioPortal,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, -38,32,P,S,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,COSMIC,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -39,33,V,A,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,cBioPortal,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, -40,34,I,T,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,cBioPortal,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, -41,35,I,V,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,"cBioPortal,COSMIC",mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, -42,36,E,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -43,37,R,Q,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,"cBioPortal,COSMIC","luad_tcga_pan_can_atlas_2018, nsclc_tcga_broad_2016, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018","Endometrial Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer","hg19,16:87402188-87402188, hg19,16:87435794-87435794, hg38,16:87402188-87402188","hg19,16:g.87402188G>A, hg19,16:g.87435794G>A, hg38,16:g.87402188G>A",0.514,lung,"carcinoma, adenocarcinoma",0.0000039783893888,,,,,,,,,,,,, -44,38,Y,H,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,"cBioPortal,COSMIC","ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub",Endometrial Carcinoma,"hg19,16:87402190-87402190, hg19,16:87435796-87435796, hg38,16:87402190-87402190","hg19,16:g.87402190T>C, hg19,16:g.87435796T>C, hg38,16:g.87402190T>C",0.363,endometrium,"carcinoma, endometrioid_carcinoma",0.0000039770919504,,,,,,,,,,,,, -45,39,K,R,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,"cBioPortal,COSMIC","coad_tcga_gdc, coadread_tcga_pan_can_atlas_2018","Colon Adenocarcinoma, Colorectal Adenocarcinoma","hg19,16:87402194-87402194, hg19,16:87435800-87435800, hg38,16:87402194-87402194","hg19,16:g.87402194A>G, hg19,16:g.87435800A>G, hg38,16:g.87402194A>G",0.065,"large_intestine, caecum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -46,40,G,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -47,41,E,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -48,42,K,,,,Ubq,,,,,,,,PhosphoSite,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -49,43,Q,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -50,44,L,F,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,ClinVar,,,"hg19,16:87435814-87435814, hg38,16:87402208-87402208","hg19,16:g.87435814C>T, hg38,16:g.87402208C>T",0.359,,,,,,,2298840,Uncertain significance,not specified,1,,,,,, -51,44,L,P,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,ClinVar,,,"hg19,16:87435815-87435815, hg38,16:87402209-87402209","hg19,16:g.87435815T>C, hg38,16:g.87402209T>C",0.632,,,,,,,2298841,Uncertain significance,not specified,1,,,,,, -52,45,P,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, -53,46,V,F,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,cBioPortal,hgsoc_tcga_gdc,High-Grade Serous Ovarian Cancer,"hg19,16:87402214-87402214","hg19,16:g.87402214G>T",,,,,,,,,,,,,,,,, -54,47,L,M,,,,,,,,,,,,,,cBioPortal,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435823-87435823","hg19,16:g.87435823C>A",0.340,,,,,,,,,,,,,,,, -55,48,D,Y,,,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,cBioPortal,cscc_ranson_2022,Cutaneous Squamous Cell Carcinoma,"hg19,16:87402220-87402220","hg19,16:g.87402220G>T",,,,,,,,,,,,,,,,, -56,49,K,N,,,Ubq,,,Ac,,,,,PhosphoSite,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,"cBioPortal,COSMIC","mixed_allen_2018, skcm_dfci_2015","Cutaneous Melanoma, Mixed Cancer Types","hg19,16:87435831-87435831, hg38,16:87402225-87402225","hg19,16:g.87435831A>C, hg38,16:g.87402225A>C",0.495,skin,malignant_melanoma,,,,,,,,,,,,,, -57,50,T,I,P,,,,,,,,,,PhosphoSite,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,COSMIC,,,"hg38,16:87402227-87402227","hg38,16:g.87402227C>T",0.502,"upper_aerodigestive_tract, mouth, gingiva","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -58,50,T,R,P,,,,,,,,,,PhosphoSite,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,ClinVar,,,"hg19,16:87435833-87435833, hg38,16:87402227-87402227","hg19,16:g.87435833C>G, hg38,16:g.87402227C>G",0.415,,,0.0000039767440011,,,,3870023,Uncertain significance,not specified,1,,,,,, -59,51,K,,,,Ubq,,,Ac,,,,,"PhosphoSite,dbPTM","FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -60,52,F,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -61,53,L,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -62,54,V,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, -63,55,P,L,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,ClinVar,,,"hg19,16:87435848-87435848, hg38,16:87402242-87402242","hg19,16:g.87435848C>T, hg38,16:g.87402242C>T",0.673,,,,,,,4549291,Uncertain significance,not specified,1,,,,,, -64,56,D,G,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,ClinVar,,,"hg19,16:87435851-87435851, hg38,16:87402245-87402245","hg19,16:g.87435851A>G, hg38,16:g.87402245A>G",0.408,,,,,,,2291996,Uncertain significance,not specified,1,,,,,, -65,56,D,N,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,"cBioPortal,COSMIC","prad_fhcrc, prad_p1000, stad_tcga, stad_tcga_gdc, stad_tcga_pan_can_atlas_2018, stes_tcga_pub","Esophagogastric Adenocarcinoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma","hg19,16:87402244-87402244, hg19,16:87435850-87435850, hg38,16:87402244-87402244","hg19,16:g.87402244G>A, hg19,16:g.87435850G>A, hg38,16:g.87402244G>A",0.341,"prostate, stomach","carcinoma, adenocarcinoma",,,,,,,,,,,,,, -66,57,H,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, -67,58,V,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, -68,59,N,K,,,,,,,,,,,,,,cBioPortal,luad_mskcc_2023_met_organotropism,Lung Adenocarcinoma,"hg19,16:87435861-87435861","hg19,16:g.87435861C>A",0.281,,,,,,,,,,,,,,,, -69,60,M,I,,,,,,,,,,,,,,"cBioPortal,COSMIC","blca_msk_tcga_2020, blca_tcga_gdc, blca_tcga_pan_can_atlas_2018, blca_tcga_pub_2017",Bladder Urothelial Carcinoma,"hg19,16:87402258-87402258, hg19,16:87435864-87435864, hg38,16:87402258-87402258","hg19,16:g.87402258G>A, hg19,16:g.87435864G>A, hg38,16:g.87402258G>A",0.261,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, -70,60,M,V,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87402256-87402256","hg38,16:g.87402256A>G",0.277,liver,carcinoma,0.0000994502390784,0.0004138545778683,,,,,,,,,,,, -71,61,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -72,62,E,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -73,63,L,F,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,COSMIC,,,"hg38,16:87402265-87402265","hg38,16:g.87402265C>T",0.293,"skin, head_neck","malignant_melanoma, nodular",,,,,,,,,,,,,, -74,64,I,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -75,65,K,E,,,Ubq,,,,,,,,"PhosphoSite,dbPTM","MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,COSMIC",coadread_genentech,Colorectal Adenocarcinoma,"hg19,16:87435877-87435877, hg38,16:87402271-87402271","hg19,16:g.87435877A>G, hg38,16:g.87402271A>G",0.314,"large_intestine, colon","carcinoma, adenocarcinoma",0.0000278640235650,,,,,,,,,,,,, -76,66,I,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -77,67,I,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -78,68,R,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -79,69,R,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -80,70,R,C,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,COSMIC","ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -81,70,R,H,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,COSMIC",ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, -82,71,L,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -83,72,Q,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -84,73,L,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -85,74,N,S,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,ClinVar","gbm_mayo_pdx_sarkaria_2019, pancan_pdmr_2025","Diffuse Glioma, Mixed Cancer Types","hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,,,4103060,Uncertain significance,not specified,1,,,,,, -86,75,A,D,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,cBioPortal,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87402943-87402943, hg19,16:87436549-87436549","hg19,16:g.87402943C>A, hg19,16:g.87436549C>A",0.206,,,,,,,,,,,,,,,, -87,76,N,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -88,77,Q,R,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"cBioPortal,ClinVar",ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402949-87402949, hg19,16:87436555-87436555, hg38,16:87402949-87402949","hg19,16:g.87402949A>G, hg19,16:g.87436555A>G, hg38,16:g.87402949A>G",0.403,,,,,,,3292933,Uncertain significance,not specified,1,,,,,, -89,78,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -90,79,F,L,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436562-87436562, hg38,16:87402956-87402956","hg19,16:g.87436562C>A, hg38,16:g.87402956C>A",0.291,,,,0.0000318430773150,,,3542642,Uncertain significance,not specified,1,,,,,, -91,80,F,L,,,,,,,,,,,,,,cBioPortal,pancan_hcmi_2025,Mixed Cancer Types,"hg19,16:87402959-87402959","hg19,16:g.87402959C>A",,,,,,,,,,,,,,,,, -92,81,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -93,82,L,F,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87402965-87402965","hg38,16:g.87402965G>T",0.295,liver,"other, neoplasm",,,,,,,,,,,,,, -94,83,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -95,84,N,K,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436577-87436577, hg38,16:87402971-87402971","hg19,16:g.87436577C>A, hg38,16:g.87402971C>A",0.290,,,0.0000079612763518,0.0000318390219052,,,3542644,Uncertain significance,not specified,1,,,,,, -96,85,G,R,,,,,,,,,,,,,,cBioPortal,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402972-87402972","hg19,16:g.87402972G>A",,,,,,,,,,,,,,,,, -97,86,H,D,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436581-87436581, hg38,16:87402975-87402975","hg19,16:g.87436581C>G, hg38,16:g.87402975C>G",0.241,,,0.0000278613618634,0.0000318430773150,,,2553606,Uncertain significance,not specified,1,,,,,, -98,87,S,,,,,,,,,,,,,"SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -99,88,M,T,,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,ClinVar,,,"hg19,16:87436588-87436588, hg38,16:87402982-87402982","hg19,16:g.87436588T>C, hg38,16:g.87402982T>C",0.502,,,,,,,3870024,Uncertain significance,not specified,1,,,,,, -100,89,V,F,,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,"cBioPortal,COSMIC","lusc_tcga, lusc_tcga_pan_can_atlas_2018, lusc_tcga_pub, nsclc_tcga_broad_2016","Lung Squamous Cell Carcinoma, Non-Small Cell Lung Cancer","hg19,16:87436590-87436590, hg38,16:87402984-87402984","hg19,16:g.87436590G>T, hg38,16:g.87402984G>T",0.578,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, -101,90,S,,,,,,,,,,,,,"WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -102,91,V,I,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,"COSMIC,ClinVar",,,"hg19,16:87436596-87436596, hg38,16:87402990-87402990","hg19,16:g.87436596G>A, hg38,16:g.87402990G>A",0.172,endometrium,"carcinoma, endometrioid_carcinoma",0.0000875329243159,0.0000636942675159,,,2406999,Uncertain significance,not specified,1,,,,,, -103,92,S,C,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,ClinVar,,,"hg19,16:87436600-87436600, hg38,16:87402994-87402994","hg19,16:g.87436600C>G, hg38,16:g.87402994C>G",0.275,,,0.0000079569687132,,,,4103061,Uncertain significance,not specified,1,,,,,, -104,93,T,,P,,,,,,,,,,NetPhos,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, -105,94,P,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM",,,,,,,,,,,,,,,,,,,,,,, -106,95,I,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM",,,,,,,,,,,,,,,,,,,,,,, -107,96,S,,P,,,,,,,,,,NetPhos,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM",,,,,,,,,,,,,,,,,,,,,,, -108,97,E,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM",,,,,,,,,,,,,,,,,,,,,,, -109,98,V,A,,,,,,,,,,,,,,cBioPortal,lihc_amc_prv,Hepatocellular Carcinoma,"hg19,16:87436618-87436618","hg19,16:g.87436618T>C",0.265,,,0.0000000000000000,,,,,,,,,,,,, -110,98,V,L,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436617-87436617, hg38,16:87403011-87403011","hg19,16:g.87436617G>T, hg38,16:g.87403011G>T",0.047,,,0.0000039774399605,,,,3542643,Uncertain significance,not specified,1,,,,,, -111,98,V,M,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87403011-87403011","hg38,16:g.87403011G>A",0.395,"stomach, gastroesophageal_junction",carcinoid-endocrine_tumour,,,,,,,,,,,,,, -112,99,Y,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -113,100,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -114,101,S,,P,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,,,,, -115,102,E,K,,,,,,,,,,,,,,ClinVar,,,"hg19,16:87436629-87436629, hg38,16:87403023-87403023","hg19,16:g.87436629G>A, hg38,16:g.87403023G>A",0.315,,,,,,,3122723,Uncertain significance,not specified,1,,,,,, -116,103,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -117,104,D,H,,,,,,,,,,,,,,cBioPortal,lung_smc_2016,Lung,"hg19,16:87436635-87436635","hg19,16:g.87436635G>C",0.654,,,,,,,,,,,,,,,, -118,105,E,K,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM",,cBioPortal,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87403032-87403032, hg19,16:87436638-87436638","hg19,16:g.87403032G>A, hg19,16:g.87436638G>A",0.220,,,,,,,,,,,,,,,, -119,106,D,G,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,cBioPortal,"metastatic_solid_tumors_mich_2017, pancan_pdmr_2025",Mixed Cancer Types,"hg19,16:87436642-87436642","hg19,16:g.87436642A>G",0.866,,,0.0000278396436526,,,,,,,,,,,,, -120,107,G,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -121,108,F,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -122,109,L,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -123,110,Y,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -124,111,M,V,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,cBioPortal,"ccle_broad_2019, ccle_broad_2025, coad_cptac_2019","Colon Adenocarcinoma, Mixed Cancer Types","hg19,16:87403050-87403050, hg19,16:87436656-87436656","hg19,16:g.87403050A>G, hg19,16:g.87436656A>G",0.274,,,0.0000039771235851,,,,,,,,,,,,, -125,112,V,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, -126,113,Y,C,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,"cBioPortal,COSMIC","acbc_mskcc_2015, acc_2019, bcc_unige_2016, kich_tcga","Adenoid Cystic Breast Cancer, Adenoid Cystic Carcinoma, Basal Cell Carcinoma, Chromophobe Renal Cell Carcinoma","hg19,16:87436663-87436663, hg38,16:87403057-87403057","hg19,16:g.87436663A>G, hg38,16:g.87403057A>G",0.771,"breast, liver, oesophagus, middle_third, prostate, skin, skin, face, skin, foot","carcinoma, carcinoma, adenocarcinoma, carcinoma, adenoid_cystic_carcinoma, carcinoma, basal_cell_carcinoma, carcinoma, hepatocellular_carcinoma, carcinoma, squamous_cell_carcinoma, malignant_melanoma",0.0012870707888934,,,,,,,,,,,,, -127,114,A,T,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,cBioPortal,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87403059-87403059, hg19,16:87436665-87436665","hg19,16:g.87403059G>A, hg19,16:g.87436665G>A",0.411,,,,,,,,,,,,,,,, -128,114,A,V,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,cBioPortal,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87436666-87436666","hg19,16:g.87436666C>T",0.436,,,,,,,,,,,,,,,, -129,115,S,F,P,,,,,,,,,,NetPhos,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,cBioPortal,cscc_ucsf_2021,Cutaneous Squamous Cell Carcinoma,"hg19,16:87436669-87436670","hg19,16:g.87436669_87436670delinsTT",,,,,,,,,,,,,,,,, -130,116,Q,,,,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, -131,117,E,V,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87403069-87403069","hg38,16:g.87403069A>T",0.640,lung,"carcinoma, adenocarcinoma",0.0000000000000000,,,,,,,,,,,,, -132,118,T,A,,,,,,,,,,,,,,cBioPortal,"pancan_pdmr_2025, pptc_2019, prad_msk_mdanderson_2023","Mixed Cancer Types, Prostate","hg19,16:87436677-87436677","hg19,16:g.87436677A>G",0.435,,,0.0006486451424587,,,,,,,,,,,,, -133,118,T,M,,,,,,,,,,,,,,COSMIC,,,"hg38,16:87403072-87403072","hg38,16:g.87403072C>T",0.370,"central_nervous_system, brain",primitive_neuroectodermal_tumour-medulloblastoma,0.0000363134577674,,,,,,,,,,,,, -134,119,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -135,120,G,E,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,cBioPortal,cscc_ranson_2022,Cutaneous Squamous Cell Carcinoma,"hg19,16:87403078-87403078","hg19,16:g.87403078G>A",,,,,,,,,,,,,,,,, -136,120,G,R,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,"cBioPortal,COSMIC",stad_utokyo,Stomach Adenocarcinoma,"hg19,16:87436683-87436683, hg38,16:87403077-87403077","hg19,16:g.87436683G>A, hg38,16:g.87403077G>A",0.705,stomach,"carcinoma, carcinoma, diffuse_adenocarcinoma",0.0000040617714198,0.0000318511912346,,,,,,,,,,,, -137,120,G,V,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,COSMIC,,,"hg38,16:87403078-87403078","hg38,16:g.87403078G>T",0.678,liver,"other, neoplasm",,,,,,,,,,,,,, -138,121,M,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -139,122,K,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -140,123,L,S,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,"cBioPortal,COSMIC",coadread_dfci_2016,Colorectal Adenocarcinoma,"hg19,16:87436693-87436693, hg38,16:87403087-87403087","hg19,16:g.87436693T>C, hg38,16:g.87403087T>C",0.044,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -141,123,L,V,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,cBioPortal,ucec_tcga_pan_can_atlas_2018,Endometrial Carcinoma,"hg19,16:87436692-87436692","hg19,16:g.87436692T>G",0.025,,,,,,,,,,,,,,,, -142,124,S,,P,,,,,,,,,,NetPhos,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, -143,125,V,A,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,cBioPortal,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436699-87436699","hg19,16:g.87436699T>C",0.035,,,0.0000393528640140,0.0000637429882713,,,,,,,,,,,, +,aa_position,ref_aa,alt_aa,variant_hgvs,variant_start,variant_end,variant_type,sources,phosphorylation_site,methylation_site,ubiquitination_site,cleavage_site,s-nitrosylation_site,acetylation_site,sumoyylation_site,glycosylation_site,glycosylation_subtype,disorder_propensity,linear_motif,structure,ptm_sources,cancer_study,cancer_type,genomic_coordinates,genomic_mutation,REVEL_score,cancer_site,cancer_histology,gnomad_exome_af,gnomad_genome_af,gnomad_popmax_exome_af,gnomad_popmax_genome_af,clinvar_variant_id,clinvar_germline_classification,clinvar_germline_condition,clinvar_germline_review_status,clinvar_oncogenicity_classification,clinvar_oncogenicity_condition,clinvar_oncogenicity_review_status,clinvar_clinical_impact_classification,clinvar_clinical_impact_condition,clinvar_clinical_impact_review_status +0,1,M,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +1,2,P,R,p.Pro2Arg,2.0,2.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87426038-87426038, hg38,16:87392432-87392432","hg19,16:g.87426038C>G, hg38,16:g.87392432C>G",0.145,,,0.0000000000000000,,,,2358122,Uncertain significance,not specified,1,,,,,, +2,2,P,S,p.Pro2Ser,2.0,2.0,missense,cBioPortal,,,,,,,,,,,,,,"ccle_broad_2019, ccle_broad_2025, ccle_genentech_2014",Mixed Cancer Types,"hg19,16:87392431-87392431, hg19,16:87426037-87426037","hg19,16:g.87392431C>T, hg19,16:g.87426037C>T",0.055,,,0.0000405975966223,,,,,,,,,,,,, +3,3,S,L,p.Ser3Leu,3.0,3.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,16:87392435-87392435","hg38,16:g.87392435C>T",0.227,"eye, urinary_tract, bladder","carcinoma, small_cell_carcinoma, retinoblastoma",0.0012579161967554,,,,,,,,,,,,, +4,3,S,W,p.Ser3Trp,3.0,3.0,missense,COSMIC,P,,,,,,,,,,,,NetPhos,,,"hg38,16:87392435-87392435","hg38,16:g.87392435C>G",0.158,oesophagus,"carcinoma, squamous_cell_carcinoma",0.0000216882102889,0.0000321957501610,,,,,,,,,,,, +5,4,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +6,5,K,,,,,,,,,Ubq,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +7,6,T,,,,,,,P,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,"NetPhos,PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +8,7,F,,,,,,,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,,,,,,,,,,,,,,,,,,, +9,8,K,N,p.Lys8Asn,8.0,8.0,missense,COSMIC,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,,,"hg38,16:87392451-87392451","hg38,16:g.87392451G>T",0.159,"skin, back","adnexal_tumour, malignant_adnexal_tumour, spiradenocarcinoma",0.0000000000000000,,,,,,,,,,,,, +10,9,Q,H,p.Gln9His,9.0,9.0,missense,cBioPortal,,,,,,,,,,,"PCSK cleavage site (CLV_PCSK_SKI1_1), 5-9, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87426060-87426060","hg19,16:g.87426060G>C",0.156,,,,,,,,,,,,,,,, +11,10,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +12,11,R,L,p.Arg11Leu,11.0,11.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,lusc_cptac_2021,Lung Squamous Cell Carcinoma,"hg19,16:87426065-87426065, hg38,16:87392459-87392459","hg19,16:g.87426065G>T, hg38,16:g.87392459G>T",0.226,,,0.0000000000000000,,,,2226367,Uncertain significance,not specified,1,,,,,, +13,12,T,S,p.Thr12Ser,12.0,12.0,missense,COSMIC,P,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 10-12, ELM|14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,"NetPhos,PhosphoSite",,,"hg38,16:87392461-87392461","hg38,16:g.87392461A>T",0.097,"haematopoietic_and_lymphoid_tissue, abdomen","lymphoid_neoplasm, Burkitt_lymphoma, endemic_variant",,,,,,,,,,,,,, +14,13,F,,,,,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +15,14,E,,,,,,,,,,,,,,,,,"14-3-3 binding phosphopeptide motif (LIG_14-3-3_CanoR_1), 10-14, ELM",,,,,,,,,,,,,,,,,,,,,,, +16,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,,,3542641,Uncertain significance,not specified,1,,,,,, +17,16,R,G,p.Arg16Gly,16.0,16.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87398820-87398820","hg38,16:g.87398820A>G",0.762,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +18,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +19,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,19,D,Y,p.Asp19Tyr,19.0,19.0,missense,cBioPortal,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, +21,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,21,R,G,p.Arg21Gly,21.0,21.0,missense,cBioPortal,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, +23,21,R,Q,p.Arg21Gln,21.0,21.0,missense,"COSMIC,cBioPortal",,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,"coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, +24,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +25,23,I,F,p.Ile23Phe,23.0,23.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +26,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +27,25,E,Q,p.Glu25Gln,25.0,25.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,,,,prad_msk_mdanderson_2023,Prostate,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,,,781343,Benign,not provided,1,,,,,, +28,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +29,27,H,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +30,28,P,L,p.Pro28Leu,28.0,28.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,,,,"skcm_tcga_gdc, skcm_tcga_pan_can_atlas_2018, skcm_tcga_pub_2015",Cutaneous Melanoma,"hg19,16:87398857-87398857, hg19,16:87432463-87432463, hg38,16:87398857-87398857","hg19,16:g.87398857C>T, hg19,16:g.87432463C>T, hg38,16:g.87398857C>T",0.411,skin,malignant_melanoma,,,,,,,,,,,,,, +31,29,T,A,p.Thr29Ala,29.0,29.0,missense,"COSMIC,cBioPortal",P,,,,,,,,,,,,"PhosphoSite,dbPTM",gbc_shanghai_2014,Gallbladder Cancer,"hg19,16:87432465-87432465, hg38,16:87398859-87398859","hg19,16:g.87432465A>G, hg38,16:g.87398859A>G",0.147,"biliary_tract, gallbladder","carcinoma, adenocarcinoma",,0.0000955170657157,,,,,,,,,,,, +32,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,,,2493543,Uncertain significance,not specified,1,,,,,, +33,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,,,4051121,Uncertain significance,not specified,1,,,,,, +34,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +35,31,I,N,p.Ile31Asn,31.0,31.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, +36,32,P,L,p.Pro32Leu,32.0,32.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +37,32,P,Q,p.Pro32Gln,32.0,32.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, +38,32,P,S,p.Pro32Ser,32.0,32.0,missense,COSMIC,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +39,33,V,A,p.Val33Ala,33.0,33.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, +40,34,I,T,p.Ile34Thr,34.0,34.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, +41,35,I,V,p.Ile35Val,35.0,35.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, +42,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +43,37,R,Q,p.Arg37Gln,37.0,37.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"luad_tcga_pan_can_atlas_2018, nsclc_tcga_broad_2016, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018","Endometrial Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer","hg19,16:87402188-87402188, hg19,16:87435794-87435794, hg38,16:87402188-87402188","hg19,16:g.87402188G>A, hg19,16:g.87435794G>A, hg38,16:g.87402188G>A",0.514,lung,"carcinoma, adenocarcinoma",0.0000039783893888,,,,,,,,,,,,, +44,38,Y,H,p.Tyr38His,38.0,38.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub",Endometrial Carcinoma,"hg19,16:87402190-87402190, hg19,16:87435796-87435796, hg38,16:87402190-87402190","hg19,16:g.87402190T>C, hg19,16:g.87435796T>C, hg38,16:g.87402190T>C",0.363,endometrium,"carcinoma, endometrioid_carcinoma",0.0000039770919504,,,,,,,,,,,,, +45,39,K,R,p.Lys39Arg,39.0,39.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"coad_tcga_gdc, coadread_tcga_pan_can_atlas_2018","Colon Adenocarcinoma, Colorectal Adenocarcinoma","hg19,16:87402194-87402194, hg19,16:87435800-87435800, hg38,16:87402194-87402194","hg19,16:g.87402194A>G, hg19,16:g.87435800A>G, hg38,16:g.87402194A>G",0.065,"large_intestine, caecum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +46,40,G,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +47,41,E,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +48,42,K,,,,,,,,,Ubq,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +49,43,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +50,44,L,F,p.Leu44Phe,44.0,44.0,missense,ClinVar,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,"hg19,16:87435814-87435814, hg38,16:87402208-87402208","hg19,16:g.87435814C>T, hg38,16:g.87402208C>T",0.359,,,,,,,2298840,Uncertain significance,not specified,1,,,,,, +51,44,L,P,p.Leu44Pro,44.0,44.0,missense,ClinVar,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,"hg19,16:87435815-87435815, hg38,16:87402209-87402209","hg19,16:g.87435815T>C, hg38,16:g.87402209T>C",0.632,,,,,,,2298841,Uncertain significance,not specified,1,,,,,, +52,45,P,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, +53,46,V,F,p.Val46Phe,46.0,46.0,missense,cBioPortal,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,hgsoc_tcga_gdc,High-Grade Serous Ovarian Cancer,"hg19,16:87402214-87402214","hg19,16:g.87402214G>T",,,,,,,,,,,,,,,,, +54,47,L,M,p.Leu47Met,47.0,47.0,missense,cBioPortal,,,,,,,,,,,,,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435823-87435823","hg19,16:g.87435823C>A",0.340,,,,,,,,,,,,,,,, +55,48,D,Y,p.Asp48Tyr,48.0,48.0,missense,cBioPortal,,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,cscc_ranson_2022,Cutaneous Squamous Cell Carcinoma,"hg19,16:87402220-87402220","hg19,16:g.87402220G>T",,,,,,,,,,,,,,,,, +56,49,K,N,p.Lys49Asn,49.0,49.0,missense,"COSMIC,cBioPortal",,,Ubq,,,Ac,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,PhosphoSite,"mixed_allen_2018, skcm_dfci_2015","Cutaneous Melanoma, Mixed Cancer Types","hg19,16:87435831-87435831, hg38,16:87402225-87402225","hg19,16:g.87435831A>C, hg38,16:g.87402225A>C",0.495,skin,malignant_melanoma,,,,,,,,,,,,,, +57,50,T,I,p.Thr50Ile,50.0,50.0,missense,COSMIC,P,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,PhosphoSite,,,"hg38,16:87402227-87402227","hg38,16:g.87402227C>T",0.502,"upper_aerodigestive_tract, mouth, gingiva","carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +58,50,T,R,p.Thr50Arg,50.0,50.0,missense,ClinVar,P,,,,,,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,PhosphoSite,,,"hg19,16:87435833-87435833, hg38,16:87402227-87402227","hg19,16:g.87435833C>G, hg38,16:g.87402227C>G",0.415,,,0.0000039767440011,,,,3870023,Uncertain significance,not specified,1,,,,,, +59,51,K,,,,,,,,,Ubq,,,Ac,,,,,"FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, +60,52,F,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +61,53,L,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +62,54,V,,,,,,,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM|FHA phosphopeptide ligands (LIG_FHA_1), 48-54, ELM",,,,,,,,,,,,,,,,,,,,,,, +63,55,P,L,p.Pro55Leu,55.0,55.0,missense,ClinVar,,,,,,,,,,,"PP4 EVH1-binding docking motifs (DOC_PP4_FxxP_1), 52-55, ELM|Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,"hg19,16:87435848-87435848, hg38,16:87402242-87402242","hg19,16:g.87435848C>T, hg38,16:g.87402242C>T",0.673,,,,,,,4549291,Uncertain significance,not specified,1,,,,,, +64,56,D,G,p.Asp56Gly,56.0,56.0,missense,ClinVar,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,"hg19,16:87435851-87435851, hg38,16:87402245-87402245","hg19,16:g.87435851A>G, hg38,16:g.87402245A>G",0.408,,,,,,,2291996,Uncertain significance,not specified,1,,,,,, +65,56,D,N,p.Asp56Asn,56.0,56.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,"prad_fhcrc, prad_p1000, stad_tcga, stad_tcga_gdc, stad_tcga_pan_can_atlas_2018, stes_tcga_pub","Esophagogastric Adenocarcinoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma","hg19,16:87402244-87402244, hg19,16:87435850-87435850, hg38,16:87402244-87402244","hg19,16:g.87402244G>A, hg19,16:g.87435850G>A, hg38,16:g.87402244G>A",0.341,"prostate, stomach","carcinoma, adenocarcinoma",,,,,,,,,,,,,, +66,57,H,,,,,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, +67,58,V,,,,,,,,,,,,,,,,,"Arc N-lobe binding ligand (LIG_Arc_Nlobe_1), 54-58, ELM",,,,,,,,,,,,,,,,,,,,,,, +68,59,N,K,p.Asn59Lys,59.0,59.0,missense,cBioPortal,,,,,,,,,,,,,,luad_mskcc_2023_met_organotropism,Lung Adenocarcinoma,"hg19,16:87435861-87435861","hg19,16:g.87435861C>A",0.281,,,,,,,,,,,,,,,, +69,60,M,I,p.Met60Ile,60.0,60.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,,,,"blca_msk_tcga_2020, blca_tcga_gdc, blca_tcga_pan_can_atlas_2018, blca_tcga_pub_2017",Bladder Urothelial Carcinoma,"hg19,16:87402258-87402258, hg19,16:87435864-87435864, hg38,16:87402258-87402258","hg19,16:g.87402258G>A, hg19,16:g.87435864G>A, hg38,16:g.87402258G>A",0.261,"urinary_tract, bladder",carcinoma,,,,,,,,,,,,,, +70,60,M,V,p.Met60Val,60.0,60.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87402256-87402256","hg38,16:g.87402256A>G",0.277,liver,carcinoma,0.0000994502390784,0.0004138545778683,,,,,,,,,,,, +71,61,S,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +72,62,E,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +73,63,L,F,p.Leu63Phe,63.0,63.0,missense,COSMIC,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,"hg38,16:87402265-87402265","hg38,16:g.87402265C>T",0.293,"skin, head_neck","malignant_melanoma, nodular",,,,,,,,,,,,,, +74,64,I,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +75,65,K,E,p.Lys65Glu,65.0,65.0,missense,"COSMIC,cBioPortal",,,Ubq,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,"PhosphoSite,dbPTM",coadread_genentech,Colorectal Adenocarcinoma,"hg19,16:87435877-87435877, hg38,16:87402271-87402271","hg19,16:g.87435877A>G, hg38,16:g.87402271A>G",0.314,"large_intestine, colon","carcinoma, adenocarcinoma",0.0000278640235650,,,,,,,,,,,,, +76,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +77,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +78,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +79,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +80,70,R,C,p.Arg70Cys,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +81,70,R,H,p.Arg70His,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, +82,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +83,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +84,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +85,74,N,S,p.Asn74Ser,74.0,74.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"gbm_mayo_pdx_sarkaria_2019, pancan_pdmr_2025","Diffuse Glioma, Mixed Cancer Types","hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,,,4103060,Uncertain significance,not specified,1,,,,,, +86,75,A,D,p.Ala75Asp,75.0,75.0,missense,cBioPortal,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87402943-87402943, hg19,16:87436549-87436549","hg19,16:g.87402943C>A, hg19,16:g.87436549C>A",0.206,,,,,,,,,,,,,,,, +87,76,N,,,,,,,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +88,77,Q,R,p.Gln77Arg,77.0,77.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402949-87402949, hg19,16:87436555-87436555, hg38,16:87402949-87402949","hg19,16:g.87402949A>G, hg19,16:g.87436555A>G, hg38,16:g.87402949A>G",0.403,,,,,,,3292933,Uncertain significance,not specified,1,,,,,, +89,78,A,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +90,79,F,L,p.Phe79Leu,79.0,79.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436562-87436562, hg38,16:87402956-87402956","hg19,16:g.87436562C>A, hg38,16:g.87402956C>A",0.291,,,,0.0000318430773150,,,3542642,Uncertain significance,not specified,1,,,,,, +91,80,F,L,p.Phe80Leu,80.0,80.0,missense,cBioPortal,,,,,,,,,,,,,,pancan_hcmi_2025,Mixed Cancer Types,"hg19,16:87402959-87402959","hg19,16:g.87402959C>A",,,,,,,,,,,,,,,,, +92,81,L,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +93,82,L,F,p.Leu82Phe,82.0,82.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87402965-87402965","hg38,16:g.87402965G>T",0.295,liver,"other, neoplasm",,,,,,,,,,,,,, +94,83,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +95,84,N,K,p.Asn84Lys,84.0,84.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436577-87436577, hg38,16:87402971-87402971","hg19,16:g.87436577C>A, hg38,16:g.87402971C>A",0.290,,,0.0000079612763518,0.0000318390219052,,,3542644,Uncertain significance,not specified,1,,,,,, +96,85,G,R,p.Gly85Arg,85.0,85.0,missense,cBioPortal,,,,,,,,,,,,,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402972-87402972","hg19,16:g.87402972G>A",,,,,,,,,,,,,,,,, +97,86,H,D,p.His86Asp,86.0,86.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436581-87436581, hg38,16:87402975-87402975","hg19,16:g.87436581C>G, hg38,16:g.87402975C>G",0.241,,,0.0000278613618634,0.0000318430773150,,,2553606,Uncertain significance,not specified,1,,,,,, +98,87,S,,,,,,,,,,,,,,,,,"SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, +99,88,M,T,p.Met88Thr,88.0,88.0,missense,ClinVar,,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436588-87436588, hg38,16:87402982-87402982","hg19,16:g.87436588T>C, hg38,16:g.87402982T>C",0.502,,,,,,,3870024,Uncertain significance,not specified,1,,,,,, +100,89,V,F,p.Val89Phe,89.0,89.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,"lusc_tcga, lusc_tcga_pan_can_atlas_2018, lusc_tcga_pub, nsclc_tcga_broad_2016","Lung Squamous Cell Carcinoma, Non-Small Cell Lung Cancer","hg19,16:87436590-87436590, hg38,16:87402984-87402984","hg19,16:g.87436590G>T, hg38,16:g.87402984G>T",0.578,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +101,90,S,,,,,,,,,,,,,,,,,"WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,,,,,,,,,,,,,,,,,,, +102,91,V,I,p.Val91Ile,91.0,91.0,missense,"COSMIC,ClinVar",,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436596-87436596, hg38,16:87402990-87402990","hg19,16:g.87436596G>A, hg38,16:g.87402990G>A",0.172,endometrium,"carcinoma, endometrioid_carcinoma",0.0000875329243159,0.0000636942675159,,,2406999,Uncertain significance,not specified,1,,,,,, +103,92,S,C,p.Ser92Cys,92.0,92.0,missense,ClinVar,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,,,,"hg19,16:87436600-87436600, hg38,16:87402994-87402994","hg19,16:g.87436600C>G, hg38,16:g.87402994C>G",0.275,,,0.0000079569687132,,,,4103061,Uncertain significance,not specified,1,,,,,, +104,93,T,,,,,,,P,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 87-93, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +105,94,P,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM|SH3 domain ligands (LIG_SH3_3), 88-94, ELM",,,,,,,,,,,,,,,,,,,,,,, +106,95,I,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM|WW domain ligands (DOC_WW_Pin1_4), 90-95, ELM",,,,,,,,,,,,,,,,,,,,,,, +107,96,S,,,,,,,P,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM|Cks1 ligand (DOC_CKS1_1), 91-96, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +108,97,E,,,,,,,,,,,,,,,,,"SCF ubiquitin ligase binding Phosphodegrons (DEG_SCF_FBW7_2), 91-97, ELM",,,,,,,,,,,,,,,,,,,,,,, +109,98,V,A,p.Val98Ala,98.0,98.0,missense,cBioPortal,,,,,,,,,,,,,,lihc_amc_prv,Hepatocellular Carcinoma,"hg19,16:87436618-87436618","hg19,16:g.87436618T>C",0.265,,,0.0000000000000000,,,,,,,,,,,,, +110,98,V,L,p.Val98Leu,98.0,98.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436617-87436617, hg38,16:87403011-87403011","hg19,16:g.87436617G>T, hg38,16:g.87403011G>T",0.047,,,0.0000039774399605,,,,3542643,Uncertain significance,not specified,1,,,,,, +111,98,V,M,p.Val98Met,98.0,98.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87403011-87403011","hg38,16:g.87403011G>A",0.395,"stomach, gastroesophageal_junction",carcinoid-endocrine_tumour,,,,,,,,,,,,,, +112,99,Y,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +113,100,E,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +114,101,S,,,,,,,P,,,,,,,,,,,,NetPhos,,,,,,,,,,,,,,,,,,,,, +115,102,E,K,p.Glu102Lys,102.0,102.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87436629-87436629, hg38,16:87403023-87403023","hg19,16:g.87436629G>A, hg38,16:g.87403023G>A",0.315,,,,,,,3122723,Uncertain significance,not specified,1,,,,,, +116,103,K,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +117,104,D,H,p.Asp104His,104.0,104.0,missense,cBioPortal,,,,,,,,,,,,,,lung_smc_2016,Lung,"hg19,16:87436635-87436635","hg19,16:g.87436635G>C",0.654,,,,,,,,,,,,,,,, +118,105,E,K,p.Glu105Lys,105.0,105.0,missense,cBioPortal,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM",,,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87403032-87403032, hg19,16:87436638-87436638","hg19,16:g.87403032G>A, hg19,16:g.87436638G>A",0.220,,,,,,,,,,,,,,,, +119,106,D,G,p.Asp106Gly,106.0,106.0,missense,cBioPortal,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,"metastatic_solid_tumors_mich_2017, pancan_pdmr_2025",Mixed Cancer Types,"hg19,16:87436642-87436642","hg19,16:g.87436642A>G",0.866,,,0.0000278396436526,,,,,,,,,,,,, +120,107,G,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +121,108,F,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +122,109,L,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +123,110,Y,,,,,,,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,,,,,,,,,,,,,,,,,,, +124,111,M,V,p.Met111Val,111.0,111.0,missense,cBioPortal,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,"ccle_broad_2019, ccle_broad_2025, coad_cptac_2019","Colon Adenocarcinoma, Mixed Cancer Types","hg19,16:87403050-87403050, hg19,16:87436656-87436656","hg19,16:g.87403050A>G, hg19,16:g.87436656A>G",0.274,,,0.0000039771235851,,,,,,,,,,,,, +125,112,V,I,p.Val112Ile,112.0,112.0,missense,ClinVar,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM",,,,,"hg19,16:87436659-87436659, hg38,16:87403053-87403053","hg19,16:g.87436659G>A, hg38,16:g.87403053G>A",0.193,,,,,,,4837135,Uncertain significance,not specified,1,,,,,, +126,113,Y,C,p.Tyr113Cys,113.0,113.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,"acbc_mskcc_2015, acc_2019, bcc_unige_2016, kich_tcga","Adenoid Cystic Breast Cancer, Adenoid Cystic Carcinoma, Basal Cell Carcinoma, Chromophobe Renal Cell Carcinoma","hg19,16:87436663-87436663, hg38,16:87403057-87403057","hg19,16:g.87436663A>G, hg38,16:g.87403057A>G",0.771,"breast, liver, oesophagus, middle_third, prostate, skin, skin, face, skin, foot","carcinoma, carcinoma, adenocarcinoma, carcinoma, adenoid_cystic_carcinoma, carcinoma, basal_cell_carcinoma, carcinoma, hepatocellular_carcinoma, carcinoma, squamous_cell_carcinoma, malignant_melanoma",0.0012870707888934,,,,,,,,,,,,, +127,114,A,T,p.Ala114Thr,114.0,114.0,missense,cBioPortal,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,"ccle_broad_2019, ccle_broad_2025",Mixed Cancer Types,"hg19,16:87403059-87403059, hg19,16:87436665-87436665","hg19,16:g.87403059G>A, hg19,16:g.87436665G>A",0.411,,,,,,,,,,,,,,,, +128,114,A,V,p.Ala114Val,114.0,114.0,missense,cBioPortal,,,,,,,,,,,"Atg8 protein family ligands (LIG_LIR_Gen_1), 105-114, ELM|Atg8 protein family ligands (LIG_LIR_Gen_1), 106-114, ELM|Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87436666-87436666","hg19,16:g.87436666C>T",0.436,,,,,,,,,,,,,,,, +129,115,S,F,p.Ser115Phe,115.0,115.0,missense,cBioPortal,P,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,NetPhos,cscc_ucsf_2021,Cutaneous Squamous Cell Carcinoma,"hg19,16:87436669-87436670","hg19,16:g.87436669_87436670delinsTT",,,,,,,,,,,,,,,,, +130,116,Q,,,,,,,,,,,,,,,,,"Phosphotyrosine ligands bound by SH2 domains (LIG_SH2_STAT3), 113-116, ELM",,,,,,,,,,,,,,,,,,,,,,, +131,117,E,V,p.Glu117Val,117.0,117.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87403069-87403069","hg38,16:g.87403069A>T",0.640,lung,"carcinoma, adenocarcinoma",0.0000000000000000,,,,,,,,,,,,, +132,118,T,A,p.Thr118Ala,118.0,118.0,missense,cBioPortal,,,,,,,,,,,,,,"pancan_pdmr_2025, pptc_2019, prad_msk_mdanderson_2023","Mixed Cancer Types, Prostate","hg19,16:87436677-87436677","hg19,16:g.87436677A>G",0.435,,,0.0006486451424587,,,,,,,,,,,,, +133,118,T,M,p.Thr118Met,118.0,118.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87403072-87403072","hg38,16:g.87403072C>T",0.370,"central_nervous_system, brain",primitive_neuroectodermal_tumour-medulloblastoma,0.0000363134577674,,,,,,,,,,,,, +134,119,F,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, +135,120,G,E,p.Gly120Glu,120.0,120.0,missense,cBioPortal,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,cscc_ranson_2022,Cutaneous Squamous Cell Carcinoma,"hg19,16:87403078-87403078","hg19,16:g.87403078G>A",,,,,,,,,,,,,,,,, +136,120,G,R,p.Gly120Arg,120.0,120.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,stad_utokyo,Stomach Adenocarcinoma,"hg19,16:87436683-87436683, hg38,16:87403077-87403077","hg19,16:g.87436683G>A, hg38,16:g.87403077G>A",0.705,stomach,"carcinoma, carcinoma, diffuse_adenocarcinoma",0.0000040617714198,0.0000318511912346,,,,,,,,,,,, +137,120,G,V,p.Gly120Val,120.0,120.0,missense,COSMIC,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,"hg38,16:87403078-87403078","hg38,16:g.87403078G>T",0.678,liver,"other, neoplasm",,,,,,,,,,,,,, +138,121,M,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +139,122,K,,,,,,,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,,,,,,,,,,,,,,,,,,,,, +140,123,L,S,p.Leu123Ser,123.0,123.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,coadread_dfci_2016,Colorectal Adenocarcinoma,"hg19,16:87436693-87436693, hg38,16:87403087-87403087","hg19,16:g.87436693T>C, hg38,16:g.87403087T>C",0.044,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +141,123,L,V,p.Leu123Val,123.0,123.0,missense,cBioPortal,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,ucec_tcga_pan_can_atlas_2018,Endometrial Carcinoma,"hg19,16:87436692-87436692","hg19,16:g.87436692T>G",0.025,,,,,,,,,,,,,,,, +142,124,S,,,,,,,P,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,NetPhos,,,,,,,,,,,,,,,,,,,,, +143,125,V,A,p.Val125Ala,125.0,125.0,missense,cBioPortal,,,,,,,,,,,"PDZ domain ligands (LIG_PDZ_Class_2), 120-125, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436699-87436699","hg19,16:g.87436699T>C",0.035,,,0.0000393528640140,0.0000637429882713,,,,,,,,,,,, diff --git a/docs/my_table.pdf b/docs/my_table.pdf index 158ddf8c2b7f7e3fcb621828e2a970b005905bb4..7d35428ecac6b97521948667af9bbe86cb249720 100644 GIT binary patch delta 7960 zcmZu!by(DE(>@>wQqoAt($d=@B}htlcT0D>f*>lAOG>JwNG?c&G?IdJqlh9YNQ&?+ zN3Zjq1K;!4{ATBwd*+^*XRe*^#;feZD|>>6Ht}RZlmus)4aF#q(y45v#rS-@@iWf2 z^s~yVjj>=ir{c8)L0*rF!2S982OFt8-76aoQPi$rL%qo{7CbH{E~)zj0oQ}?9mZ6b z3TI_Wu1M5Ri1BBc22ZH(i=UW!*ZsVXKAqI?jc(Rsj#Ar%O9Xyqxz{lF>+9{dk&KijcQ_m36uMlcZzCC3u;x`uuT>$p?Go zrNW(quffToPjuzkUc;N}8`qlFUFzgxR7B!PKqw_RQ}YmiZ9(vz&VXYc#~!Jj()wuu zvG0-s-&`_}4i9a)Kd+D4-X0Tpax=CtQ5uBiQyTgt#os~PFdSx|Kl&ciZ&o*76&*Uj zpBK9xM56ovr^iha6#7Pn 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This step might take a few minutes as Cancermuts interrogates the cBioPortal online database. The final result of this step will have modified the `seq` Sequence object we have created by adding mutations to the positions of the -respective residues. In this case, Cancermuts identified only three +respective residues. In this case, Cancermuts identified only four mutations for cBioPortal: ```py ->>> print(seq.positions[38].mutations) -[] +>>> seq.variants_at_position(39) +[] ->>> print(seq.positions[64].mutations) -[] +>>> seq.variants_at_position(65) +[] ->>> print(seq.positions[122].mutations) -[] +>>> seq.variants_at_position(123) +[, ] ``` Each mutation is recorded in a Mutation object that can be further explored: ```py ->>> seq.positions[64].mutations -[] +>>> seq.variants_at_position(65) +[] ->>> seq.positions[64].mutations[0].sources -[] +>>> seq.variants_at_position(65)[0].sources +[] ->>> seq.positions[64].mutations[0].mutated_residue_type +>>> seq.variants_at_position(65)[0].alt 'E' ->>> seq.positions[38].mutations[0].metadata +>>> seq.variants_at_position(39)[0].metadata {'cancer_type': [], - 'cancer_study': [], - 'genomic_mutations': [G from cBioPortal>], - 'genomic_coordinates': []} + 'cancer_study': [], + 'genomic_mutations': [G from cBioPortal>], + 'genomic_coordinates': []} ``` {% hint style='info' %} @@ -400,14 +400,15 @@ this newfound mutation. We see now that the details obtained by both cBioPortal and COSMIC are present: ```py ->>> seq.positions[64].mutations[0] - +>>> seq.variants_at_position(65)[0] + + +>>> seq.variants_at_position(65)[0].sources +[, + ] ->>> seq.positions[64].mutations[0].sources -[, - ] ->>> seq.positions[64].mutations[0].metadata +>>> seq.variants_at_position(65)[0].metadata {'cancer_type': [], 'cancer_study': [], 'genomic_mutations': [G from cBioPortal>, @@ -445,27 +446,27 @@ Once the RefSeq is set, we can annotate the sequence object with all ClinVar mis Once complete, mutations identified by ClinVar will be added to the appropriate positions in the sequence: ```py ->>> seq.positions[14].mutations -[] +>>> seq.variants_at_position(15) +[] ``` Each mutation is recorded in a Mutation object that can be further explored: ```py ->>> seq.positions[14].mutations -[] +>>> seq.variants_at_position(15) +[] ->>> seq.positions[14].mutations[0].sources -[] +>>> seq.variants_at_position(15)[0].sources +[] ->>> seq.positions[14].mutations[0].mutated_residue_type +>>> seq.variants_at_position(15)[0].alt 'R' ->>> seq.positions[14].mutations[0].metadata['clinvar_germline_condition'] +>>> seq.variants_at_position(15)[0].metadata['clinvar_germline_condition'] [ClinvarGermlineCondition(source=, conditions=['not specified'])] ->>> seq.positions[14].mutations[0].metadata['clinvar_germline_classification'] +>>> seq.variants_at_position(15)[0].metadata['clinvar_germline_classification'] [ClinvarGermlineClassification(source=, classification='Uncertain significance')] ``` @@ -496,8 +497,8 @@ class: we can check that the mutations have been annotated with the REVEL score: ```py ->>> seq.positions[64].mutations[0].metadata['revel_score'] -[, ] +>>> seq.variants_at_position(65)[0].metadata['revel_score'] +[, ] ``` In this case we see the same score twice, as the mutation was previously @@ -549,7 +550,7 @@ We can then annotate our sequence with the local REVEL database: We can now check that REVEL scores have been annotated for our mutations: ```py ->>> seq.positions[64].mutations[0].metadata['revel_score'] +>>> seq.variants_at_position(65)[0].metadata['revel_score']) [] ``` @@ -594,24 +595,22 @@ all supported non-bottlenecked populations and then finding the maximum frequenc Finally we can check the downloaded metadata: ```py ->>> seq.positions[64].mutations[0].metadata['gnomad_exome_allele_frequency'] +>>> seq.variants_at_position(65)[0].metadata['gnomad_exome_allele_frequency'] [, ] ->>> seq.positions[64].mutations[0].metadata['gnomad_genome_allele_frequency'] -[, - ] +>>> seq.variants_at_position(65)[0].metadata['gnomad_genome_allele_frequency'] +[] ``` here Cancermuts could assign an exome allele frequency for the associated genomic mutations, however it wasn't able to download or calculate the corresponding genome allele frequency. -### Position properties +### Sequence properties -We will further annotate our sequence object with properties connected to each single -residue. For the moment, these are post-translation modifications from Phosphosite and -order/disorder propensity from MobiDB. +We will further annotate our sequence object with properties connected to single +residue or short sequence fragments. We import the relative data source class, similarly as what done previously: @@ -644,7 +643,7 @@ dictionary associating each PTM to a file name: ``` the keys of the dictionaries should be the options supported in the `properties` -argument of the `add_position_properties` (see below). +argument of the `add_sequence_properties` (see below). Once the object is created we can add the position properties to our sequence object. If no `properties` is supplied, all of them will be considered. Otherwise, @@ -664,24 +663,24 @@ that we want to be annotated, as follows: So, for instance: ```py ->>> ps.add_position_properties(seq, +>>> ps.add_sequence_properties(seq, properties=['phosphorylation', 'ubiquitination']) ``` However, in this case we will consider all of them: ```py ->>> ps.add_position_properties(seq) +>>> ps.add_sequence_properties(seq) ``` Once again, we can check the result: ```py ->>> seq.positions[4].properties -{'ptm_ubiquitination': } +>>> seq.properties_at_position(5) +{'ptm_ubiquitination': []} ->>> seq.positions[28].properties -{'ptm_phosphorylation': } +>>> seq.properties_at_position(29) +{'ptm_phosphorylation': []} ``` #### Post-translational modifications with dbPTM @@ -740,11 +739,11 @@ If a glycosylation site is already annotated with a more specific subtype (for e Once again, we can check the result: ```py ->>> seq.positions[18].properties -{'ptm_glycosylation': } +>>> seq.properties_at_position(19, 'ptm_glycosylation') +{} ->>> seq.positions[42].properties -{'ptm_phosphorylation': } +>>> seq.properties_at_position(29, 'ptm_phosphorylation') +{'ptm_phosphorylation': []} ``` #### Predicted phosphorylation sites with NetPhos @@ -775,21 +774,21 @@ Once the object is created, we can add the position properties to our sequence object: ```py ->>> np.add_position_properties(seq) +>>> np.add_sequence_properties(seq) ``` Optionally, since NetPhos currently only supports phosphorylation, the `properties` argument can also be specified explicitly: ```py ->>> np.add_position_properties(seq, properties=['phosphorylation']) +>>> np.add_sequence_properties(seq, properties=['phosphorylation']) ``` Once again, we can check the result: ```py ->>> seq.positions[51].properties -{'ptm_phosphorylation': } +>>> seq.properties_at_position(3, 'ptm_phosphorylation') +{'ptm_phosphorylation': []} ``` In this case, the phosphorylation annotation was added from a NetPhos prediction @@ -816,11 +815,8 @@ If multiple glycosylation annotations are available for the same position, they We can inspect the result as follows: ```py ->>> seq.positions[45].properties -{'ptm_glycosylation': } - ->>> seq.positions[45].properties['ptm_glycosylation'].metadata -{'subtypes': ['N-GlcNAc', 'O-GalNAc']} +>>> seq.properties_at_position(46, 'ptm_glycosylation') +{} ``` Only canonical isoforms are supported by the GlyGen datasource. @@ -831,17 +827,17 @@ protein of interest using the consensus of the entry. This works similarly as be ```py mdb = MobiDB() -mdb.add_position_properties(seq) +mdb.add_sequence_properties(seq) ``` We can then check the annotation as done previously: ```py ->>> seq.positions[0].properties['mobidb_disorder_propensity'] - +>>> seq.properties_at_position(1,'mobidb_disorder_propensity') +{} ->>> seq.positions[10].properties['mobidb_disorder_propensity'] - +>>> seq.properties_at_position(11,'mobidb_disorder_propensity') +{} ``` There are four types of annotations, here listed in order of priority. @@ -857,17 +853,13 @@ There are four types of annotations, here listed in order of priority. If none of these data are available for the consensus, the residue will not be annotated. For more information about the types of evidence, please see the [MobiDB vocabulary](https://mobidb.bio.unipd.it/about/vocabulary) -### Sequence properties -We further annotate properties to the sequence, i.e. properties that cover -multiple residues. We first import the respective classes: +#### Predictions of short linear motifs from ELM ```py >>> from cancermuts.datasources import ELMPredictions ``` -#### Predictions of short linear motifs from ELM - We annotate the sequence using predictions for short linear motifs from the [Eukaryotic Linear Motif](http://elm.eu.org) database: @@ -886,9 +878,10 @@ We can check the linear motifs we have collected: ```py >>> seq.properties -{'linear_motif': [, - , - , +{'ptm_acetylation': [, +, +], 'ptm_methylation': [], 'ptm_phosphorylation': [, +, ... ``` @@ -897,11 +890,6 @@ and their specifics: ```py >>> seq.properties['linear_motif'][0].type 'NRD cleavage site' - ->>> seq.properties['linear_motif'][0].positions -[, - , - ] ``` Alternatively, and in a very similar fashion, it is possible to use the [gget Python @@ -1005,27 +993,25 @@ using the CSV file works as you would expect: # adds mutations to the seq object >>> ma.add_mutations(seq) -# adds PTM annotations to the sequence object ->>> ma.add_position_properties(seq) +# adds annotations to the sequence object +>>> ma.add_sequence_properties(seq) # alternatively, if we want to add genomic mutations metadata, we need to # explicitly add it in the metadata argument instead. The following commented # line adds mutations with the corresponding metadata to the seq obejct # >>> ma.add_mutations(seq, metadata=['genomic_mutations']) -# adds structure or linear motif annotation to the sequence object ->>> ma.add_sequence_properties(seq) ``` We can then verify: ```py ->>> seq.positions[0].mutations -[] +>>> seq.variants_at_position(1) +[] ->>> seq.positions[2].properties['ptm_phosphorylation'] - +>>> seq.properties_at_position(3, 'ptm_phosphorylation') +{'ptm_phosphorylation': []} >>> seq.properties['linear_motif'] [] diff --git a/docs/tutorial.py b/docs/tutorial.py index dfad4c0b..6d2a88ba 100644 --- a/docs/tutorial.py +++ b/docs/tutorial.py @@ -19,8 +19,8 @@ # this prints the downloaded protein sequence print(seq.sequence) -# the seq.positions attribute is an ordered list of the protein positions: -print(seq.positions[0:3]) +# the seq.sequence_numbering attribute is an ordered list of the protein positions: +print(seq.sequence_numbering[0:3]) # import data sources classes from cancermuts.datasources import cBioPortal, COSMIC, ClinVar @@ -35,13 +35,13 @@ cb.add_mutations(seq, metadata=['cancer_type', 'cancer_study', 'genomic_mutations']) # let us check out some of the mutations -print(seq.positions[38].mutations) -print(seq.positions[64].mutations) -print(seq.positions[122].mutations) +print(seq.variants_at_position(39)) +print(seq.variants_at_position(65)) +print(seq.variants_at_position(123)) -print(seq.positions[64].mutations[0].sources) -print(seq.positions[64].mutations[0].mutated_residue_type) -print(seq.positions[38].mutations[0].metadata) +print(seq.variants_at_position(65)[0].sources) +print(seq.variants_at_position(65)[0].alt) +print(seq.variants_at_position(39)[0].metadata) # add mutations from COSMIC cosmic = COSMIC( @@ -63,9 +63,9 @@ ) # let's check them out -print(seq.positions[64].mutations[0]) -print(seq.positions[64].mutations[0].sources) -print(seq.positions[64].mutations[0].metadata) +print(seq.variants_at_position(65)[0]) +print(seq.variants_at_position(65)[0].sources) +print(seq.variants_at_position(65)[0].metadata) # add mutations from ClinVar clinvar = ClinVar() @@ -85,11 +85,11 @@ ]) # Check ClinVar Variant -print(seq.positions[14].mutations) -print(seq.positions[14].mutations[0].sources) -print(seq.positions[14].mutations[0].mutated_residue_type) -print(seq.positions[14].mutations[0].metadata['clinvar_germline_condition']) -print(seq.positions[14].mutations[0].metadata['clinvar_germline_classification']) +print(seq.variants_at_position(15)) +print(seq.variants_at_position(15)[0].sources) +print(seq.variants_at_position(15)[0].alt) +print(seq.variants_at_position(15)[0].metadata['clinvar_germline_condition']) +print(seq.variants_at_position(15)[0].metadata['clinvar_germline_classification']) # add annotations from MyVariant (REVEL) from cancermuts.datasources import MyVariant @@ -97,7 +97,7 @@ mv = MyVariant() mv.add_metadata(seq) -print(seq.positions[64].mutations[0].metadata['revel_score']) +print(seq.variants_at_position(65)[0].metadata['revel_score']) # add annotations from gnomAD from cancermuts.datasources import gnomAD @@ -105,42 +105,49 @@ gnomad = gnomAD(version='2.1') gnomad.add_metadata(seq, md_type=[ 'gnomad_exome_allele_frequency', - 'gnomad_genome_allele_frequency' + 'gnomad_genome_allele_frequency', + 'gnomad_popmax_exome_allele_frequency', + 'gnomad_popmax_genome_allele_frequency' ]) -print(seq.positions[64].mutations[0].metadata['gnomad_exome_allele_frequency']) -print(seq.positions[64].mutations[0].metadata['gnomad_genome_allele_frequency']) +print(seq.variants_at_position(65)[0].metadata['gnomad_exome_allele_frequency']) +print(seq.variants_at_position(65)[0].metadata['gnomad_genome_allele_frequency']) from cancermuts.datasources import PhosphoSite, dbPTM, GlyGen, MobiDB, NetPhos # add annotations from PhosphoSite ps = PhosphoSite('/data/databases/phosphosite/') -ps.add_position_properties(seq) +ps.add_sequence_properties(seq) -print(seq.positions[4].properties) -print(seq.positions[28].properties) +print(seq.properties_at_position(5)) +print(seq.properties_at_position(29)) # add annotations from dbPTM db = dbPTM('/data/databases/dbPTM/') -db.add_position_properties(seq) +db.add_sequence_properties(seq) + +print(seq.properties_at_position(19, 'ptm_glycosylation')) +print(seq.properties_at_position(29, 'ptm_phosphorylation')) # add annotations from GlyGen gg = GlyGen( '/data/databases/GlyGen/', database_file='human_proteoform_glycosylation_sites_uniprotkb_filtered.csv' ) -gg.add_position_properties(seq) +gg.add_sequence_properties(seq) +print(seq.properties_at_position(46, 'ptm_glycosylation')) # add annotations from NetPhos np = NetPhos('/data/databases/netphos_human_proteome/netphos_human_isoforms/raw/') -np.add_position_properties(seq) +np.add_sequence_properties(seq) +print(seq.properties_at_position(3, 'ptm_phosphorylation')) # add annotations from MobiDB mdb = MobiDB() -mdb.add_position_properties(seq) +mdb.add_sequence_properties(seq) -print(seq.positions[0].properties['mobidb_disorder_propensity']) -print(seq.positions[10].properties['mobidb_disorder_propensity']) +print(seq.properties_at_position(1,'mobidb_disorder_propensity')) +print(seq.properties_at_position(11,'mobidb_disorder_propensity')) # add annotations from ELM from cancermuts.datasources import ELMPredictions diff --git a/docs/tutorial_alternative_isoforms.py b/docs/tutorial_alternative_isoforms.py index f0e895c5..0cbe1d25 100644 --- a/docs/tutorial_alternative_isoforms.py +++ b/docs/tutorial_alternative_isoforms.py @@ -5,7 +5,7 @@ MobiDB, MyVariant, RevelDatabase, ManualAnnotation, ClinVar, NetPhos ) from cancermuts.exceptions import * -from cancermuts.core import Mutation +from cancermuts.core import ProteinVariant from cancermuts.metadata import GenomicMutation from cancermuts.table import Table @@ -21,8 +21,8 @@ # this prints the downloaded isoform sequence print(seq.sequence) -# the seq.positions attribute is an ordered list of the protein positions: -print(seq.positions[0:5]) +# the seq.sequence_numbering attribute is an ordered list of the protein positions: +print(seq.sequence_numbering[0:3]) # confirm non-canonical status print("Is the sequence canonical?", seq.is_canonical) @@ -46,13 +46,18 @@ metadata=['genomic_coordinates', 'genomic_mutations', 'cancer_site', 'cancer_histology'] ) -positions_with_mut = [p for p in seq.positions if p.mutations] -if positions_with_mut: - first_pos = positions_with_mut[0] - first_mut = first_pos.mutations[0] - print("First COSMIC mutation:", first_mut, "at position", first_pos.sequence_position) - print("Sources:", first_mut.sources) - print("Metadata:", first_mut.metadata) +cosmic_variants = [] +seen = set() +for position in seq.sequence_numbering: + for variant in seq.variants_at_position(position): + if variant.hgvs not in seen and any(source.name == "COSMIC" for source in variant.sources): + cosmic_variants.append((position, variant)) + seen.add(variant.hgvs) +if cosmic_variants: + first_position, first_mutation = cosmic_variants[0] + print("First COSMIC mutation:", first_mutation, "at position", first_position) + print("Sources:", first_mutation.sources) + print("Metadata:", first_mutation.metadata) else: print( "No COSMIC mutations found for transcript:", @@ -84,35 +89,30 @@ 'clinvar_clinical_impact_classification' ]) -is_cv = lambda m: m.metadata.get("clinvar_variant_id") is not None - -positions_with_cv = [ - p for p in seq.positions - if p.mutations and any(is_cv(m) for m in p.mutations) -] - -if positions_with_cv: - first_pos = positions_with_cv[0] - first_mut = [m for m in first_pos.mutations if is_cv(m)][0] - print("First ClinVar mutation:", first_mut, "at position", first_pos.sequence_position) - - last_pos = positions_with_cv[-1] - last_mutations = [m for m in last_pos.mutations if is_cv(m)] - last_mut = last_mutations[-1] - - if last_pos == first_pos and last_mut == first_mut: +clinvar_variants = [] +seen = set() +for position in seq.sequence_numbering: + for variant in seq.variants_at_position(position): + if variant.hgvs not in seen and variant.metadata.get("clinvar_variant_id"): + clinvar_variants.append((position, variant)) + seen.add(variant.hgvs) +if clinvar_variants: + first_position, first_mutation = clinvar_variants[0] + print("First ClinVar mutation:", first_mutation, "at position", first_position) + last_position, last_mutation = clinvar_variants[-1] + if last_position == first_position and last_mutation == first_mutation: print("(Only one ClinVar mutation found)") else: - print("Last ClinVar mutation:", last_mut, "at position", last_pos.sequence_position) + print("Last ClinVar mutation:", last_mutation, "at position", last_position) else: - print("No ClinVar mutations found for refseq:", seq.aliases['refseq']) + print("No ClinVar mutations found for RefSeq:", seq.aliases["refseq"]) # annotate with REVEL using local database rl = RevelDatabase("/data/databases/REVEL/revel_with_transcript_ids") rl.add_metadata(seq) # print annotated mutation and REVEL score -mut = seq.positions[819].mutations[0] +mut = seq.variants_at_position(820)[0] print("Mutation:", mut) print("REVEL score:", mut.metadata.get('revel_score', [])) @@ -120,7 +120,7 @@ ps = PhosphoSite('/data/databases/phosphosite/') try: - ps.add_position_properties(seq) + ps.add_sequence_properties(seq) except UnexpectedIsoformError: print("PhosphoSite annotations will not be added, as a non-canonical isoform has been provided") @@ -128,7 +128,7 @@ db = dbPTM('/data/databases/dbPTM/') try: - db.add_position_properties(seq) + db.add_sequence_properties(seq) except UnexpectedIsoformError: print("dbPTM annotations will not be added, as a non-canonical isoform has been provided") @@ -136,19 +136,19 @@ gg = GlyGen('/data/databases/GlyGen/', database_file='human_proteoform_glycosylation_sites_uniprotkb_filtered.csv') try: - gg.add_position_properties(seq) + gg.add_sequence_properties(seq) except UnexpectedIsoformError: print("GlyGen annotations will not be added, as a non-canonical isoform has been provided") # NetPhos supports non-canonical isoforms through isoform-specific local files np = NetPhos('/data/databases/netphos_human_proteome/netphos_human_isoforms/raw/') -np.add_position_properties(seq) +np.add_sequence_properties(seq) # MobiDB does not support non-canonical isoforms mdb = MobiDB() try: - mdb.add_position_properties(seq) + mdb.add_sequence_properties(seq) except UnexpectedIsoformError: print("MobiDB annotations will not be added, as a non-canonical isoform has been provided") diff --git a/docs/tutorial_pancancer.py b/docs/tutorial_pancancer.py index a6892912..700cc402 100644 --- a/docs/tutorial_pancancer.py +++ b/docs/tutorial_pancancer.py @@ -19,8 +19,8 @@ # this prints the downloaded protein sequence print(seq.sequence) -# the seq.positions attribute is an ordered list of the protein positions: -print(seq.positions[0:3]) +# the seq.sequence_numbering attribute is an ordered list of the protein positions: +print(seq.sequence_numbering[0:3]) # import data sources classes from cancermuts.datasources import cBioPortal, COSMIC, ClinVar @@ -31,13 +31,13 @@ cb.add_mutations(seq, metadata=['cancer_type', 'cancer_study', 'genomic_mutations']) # let us check out some of the mutations -print(seq.positions[38].mutations) -print(seq.positions[64].mutations) -print(seq.positions[122].mutations) +print(seq.variants_at_position(39)) +print(seq.variants_at_position(65)) +print(seq.variants_at_position(123)) -print(seq.positions[64].mutations[0].sources) -print(seq.positions[64].mutations[0].mutated_residue_type) -print(seq.positions[38].mutations[0].metadata) +print(seq.variants_at_position(65)[0].sources) +print(seq.variants_at_position(65)[0].alt) +print(seq.variants_at_position(39)[0].metadata) # add mutations from COSMIC cosmic = COSMIC( @@ -54,9 +54,9 @@ ) # let's check them out -print(seq.positions[64].mutations[0]) -print(seq.positions[64].mutations[0].sources) -print(seq.positions[64].mutations[0].metadata) +print(seq.variants_at_position(65)[0]) +print(seq.variants_at_position(65)[0].sources) +print(seq.variants_at_position(65)[0].metadata) # add mutations from ClinVar clinvar = ClinVar() @@ -76,11 +76,11 @@ ]) # Check ClinVar Variant -print(seq.positions[14].mutations) -print(seq.positions[14].mutations[0].sources) -print(seq.positions[14].mutations[0].mutated_residue_type) -print(seq.positions[14].mutations[0].metadata['clinvar_germline_condition']) -print(seq.positions[14].mutations[0].metadata['clinvar_germline_classification']) +print(seq.variants_at_position(15)) +print(seq.variants_at_position(15)[0].sources) +print(seq.variants_at_position(15)[0].alt) +print(seq.variants_at_position(15)[0].metadata['clinvar_germline_condition']) +print(seq.variants_at_position(15)[0].metadata['clinvar_germline_classification']) # add annotations from MyVariant (REVEL) from cancermuts.datasources import MyVariant @@ -88,7 +88,7 @@ mv = MyVariant() mv.add_metadata(seq) -print(seq.positions[64].mutations[0].metadata['revel_score']) +print(seq.variants_at_position(65)[0].metadata['revel_score']) # add annotations from gnomAD from cancermuts.datasources import gnomAD @@ -99,36 +99,36 @@ 'gnomad_genome_allele_frequency' ]) -print(seq.positions[64].mutations[0].metadata['gnomad_exome_allele_frequency']) -print(seq.positions[64].mutations[0].metadata['gnomad_genome_allele_frequency']) +print(seq.variants_at_position(65)[0].metadata['gnomad_exome_allele_frequency']) +print(seq.variants_at_position(65)[0].metadata['gnomad_genome_allele_frequency']) from cancermuts.datasources import PhosphoSite, dbPTM, GlyGen, MobiDB, NetPhos # add annotations from PhosphoSite ps = PhosphoSite('/data/databases/phosphosite/') -ps.add_position_properties(seq) +ps.add_sequence_properties(seq) -print(seq.positions[4].properties) -print(seq.positions[28].properties) +print(seq.properties_at_position(5)) +print(seq.properties_at_position(29)) # add annotations from dbPTM db = dbPTM('/data/databases/dbPTM/') -db.add_position_properties(seq) +db.add_sequence_properties(seq) # add annotations from GlyGen gg = GlyGen('/data/databases/GlyGen/', database_file='human_proteoform_glycosylation_sites_uniprotkb_filtered.csv') -gg.add_position_properties(seq) +gg.add_sequence_properties(seq) # add annotations from NetPhos np = NetPhos('/data/databases/netphos_human_proteome/netphos_human_isoforms/raw/') -np.add_position_properties(seq) +np.add_sequence_properties(seq) # add annotations from MobiDB mdb = MobiDB() -mdb.add_position_properties(seq) +mdb.add_sequence_properties(seq) -print(seq.positions[0].properties['mobidb_disorder_propensity']) -print(seq.positions[10].properties['mobidb_disorder_propensity']) +print(seq.properties_at_position(1,'mobidb_disorder_propensity')) +print(seq.properties_at_position(11,'mobidb_disorder_propensity')) # add annotations from ELM from cancermuts.datasources import ELMPredictions From eddd6ac518eaa1a42f4b09cd26d2a6ba271c1130 Mon Sep 17 00:00:00 2001 From: Eleni Kiahaki Date: Fri, 22 May 2026 15:18:10 +0200 Subject: [PATCH 2/5] Refactor sequence property lookup by position --- cancermuts/core.py | 69 +++++++++++++++++++++----------------- cancermuts/datasources.py | 70 +++++++-------------------------------- cancermuts/table.py | 20 ++++------- 3 files changed, 57 insertions(+), 102 deletions(-) diff --git a/cancermuts/core.py b/cancermuts/core.py index c404a7bb..af6c6e52 100644 --- a/cancermuts/core.py +++ b/cancermuts/core.py @@ -33,6 +33,7 @@ import re import pandas as pd from Bio.SeqUtils import seq3 +from collections import defaultdict class Sequence(object): """The most fundamental class of Cancermuts, this class starts from a @@ -61,9 +62,9 @@ class Sequence(object): protein sequence as obtained from the data source sequence_numbering : :obj:`list of int` list of integers, starting from one, each representing a position - properties : :obj:`dict` - dictionary including the downloaded protein-associated properties. - These can span one or more residues. + properties_by_position : :obj:`dict` + Dictionary mapping each sequence position to the sequence properties + annotated at that position. These can span one or more residues. aliases : :obj:`dict` This dictionary maps different "aliases" (i.e. identifiers) for the protein of interest. The key should represent the type of identifier @@ -94,8 +95,8 @@ def __init__(self, gene_id, uniprot_ac, sequence, source, isoform=None, is_canon self.source = source self.sequence = sequence self.sequence_numbering = list(range(1, len(self.sequence) + 1)) - self.properties = {} - + self.properties_by_position = defaultdict(lambda: defaultdict(list)) + self.properties_by_key = {} def seq2index(self, seqn): """ @@ -123,24 +124,37 @@ def __repr__(self): def add_property(self, prop): """ - Adds sequence property to sequence object. If a property of the same - category is already present, the property will be added to the same - category; otherwise the category will be created anew + Add a SequenceProperty to the sequence and index it by sequence position. + If a property with the same category and exact positions already exists, + its sources are extended instead of storing a duplicate. Parameters ---------- prop : :obj:`cancermuts.properties.SequenceProperty` new property to be added """ - - if prop.category in self.properties: - self.properties[prop.category].append(prop) - add_type = "appending" - self.log.debug("adding property %s to sequence of %s (appeding)" % (str(prop), self.gene_id)) - else: - self.properties[prop.category] = [prop] - add_type = "new category" - self.log.debug("adding property %s to sequence of %s (%s)" % (str(prop), self.gene_id, add_type)) + if prop.category not in sequence_properties_classes: + raise ValueError(f"Unknown property category: {prop.category}") + positions = list(prop.positions) + for position in positions: + if position not in self.sequence_numbering: + raise ValueError(f"Property {prop} is outside sequence bounds: " + f"position {position} for sequence of length {len(self.sequence)}") + property_key = (prop.category, tuple(positions)) + + if property_key in self.properties_by_key: + existing_prop = self.properties_by_key[property_key] + for source in prop.sources: + if source not in existing_prop.sources: + existing_prop.sources.append(source) + self.log.debug("adding property %s to sequence of %s (%s)"% (str(existing_prop), self.gene_id, "appending source")) + return existing_prop + + self.properties_by_key[property_key] = prop + for position in positions: + self.properties_by_position[position][prop.category].append(prop) + self.log.debug("adding property %s to sequence of %s (%s)" % (str(prop), self.gene_id, "new property")) + return prop def _variant_wt_check(self, var): if var.start < 1 or var.end > len(self.sequence): @@ -218,23 +232,16 @@ def properties_at_position(self, position, property_name=None): If property_name is None, return all property categories with their properties. """ - + if position not in self.sequence_numbering: + raise ValueError(f"Position {position} is outside sequence bounds: 1-{len(self.sequence)}") if property_name is not None: if property_name not in sequence_properties_classes: raise ValueError(f"Unknown property_name: {property_name}") - if property_name not in self.properties: - properties_to_check = {property_name: []} - else: - properties_to_check = {property_name: self.properties[property_name]} - else: - properties_to_check = self.properties - - properties = {} - for this_property_name, props in properties_to_check.items(): - matching_props = [prop for prop in props if position in prop.positions] - if matching_props: - properties[this_property_name] = matching_props - return properties + props = self.properties_by_position.get(position, {}).get(property_name, []) + return {property_name: list(props)} if props else {} + return {this_property_name: list(props) for this_property_name, props + in self.properties_by_position.get(position, {}).items()} + class ProteinVariant(object): """This class describes in-frame protein variants on a reference sequence. diff --git a/cancermuts/datasources.py b/cancermuts/datasources.py index c02d7554..68164a42 100644 --- a/cancermuts/datasources.py +++ b/cancermuts/datasources.py @@ -1930,21 +1930,10 @@ def add_sequence_properties(self, sequence, properties=None): self.log.warning("for PTM %s, residue %s is %s in wild-type sequence; it will be skipped" %(m, wt, sequence.sequence[site_seq_idx])) continue - already_annotated = False - if self._ptm_types_to_classes[ptm] in sequence.properties: - for prop in sequence.properties[self._ptm_types_to_classes[ptm]]: - if prop.positions == [site]: - if self not in prop.sources: - prop.sources.append(self) - self.log.info("site %s already annotated as %s; source will be added" % (m, self._ptm_types_to_classes[ptm])) - already_annotated = True - property_obj = prop - - if not already_annotated: - property_obj = sequence_properties_classes[self._ptm_types_to_classes[ptm]]( sources=[self], - positions=[site] ) - sequence.add_property(property_obj) - self.log.info("adding %s to site %s" % (m, property_obj.name)) + prop_name = self._ptm_types_to_classes[ptm] + property_obj = sequence_properties_classes[prop_name](sources=[self], positions=[site]) + property_obj = sequence.add_property(property_obj) + self.log.info("adding/updatng %s to site %s" % (m, property_obj.name)) if ptm == "O-GalNAc" or ptm == "O-GlcNAc": property_obj.add_subtype(ptm) @@ -2020,22 +2009,8 @@ def add_sequence_properties(self, sequence, properties=None): continue prop_name = self._ptm_types_to_classes[ptm] - - already_annotated = False - if prop_name in sequence.properties: - for prop in sequence.properties[prop_name]: - if prop.positions == [site]: - if self not in prop.sources: - prop.sources.append(self) - already_annotated = True - property_obj = prop - - if not already_annotated: - property_obj = sequence_properties_classes[prop_name]( - sources=[self], - positions=[site] - ) - sequence.add_property(property_obj) + property_obj = sequence_properties_classes[prop_name](sources=[self], positions=[site]) + property_obj = sequence.add_property(property_obj) if ptm in self._glyco_subtypes: @@ -2144,19 +2119,9 @@ def add_sequence_properties(self, sequence, properties=None): f"{sequence.sequence[site_seq_idx]} in wild-type sequence; it will be skipped") continue - already_annotated = False - if prop_name in sequence.properties: - for prop in sequence.properties[prop_name]: - if prop.positions == [site]: - if self not in prop.sources: - prop.sources.append(self) - self.log.info(f"site {site_label} already annotated as phosphorylation; source will be added") - already_annotated = True - - if not already_annotated: - prop = sequence_properties_classes[prop_name](sources=[self], positions=[site]) - sequence.add_property(prop) - self.log.info(f"adding {site_label} to site {prop.name}") + prop = sequence_properties_classes[prop_name](sources=[self], positions=[site]) + prop = sequence.add_property(prop) + self.log.info(f"adding/updating {site_label} to site {prop.name}") class GlyGen(StaticSource, object): @logger_init @@ -2188,20 +2153,9 @@ def add_sequence_properties(self, sequence): site = int(row['glycosylation_site_uniprotkb']) subtype = f"{row['glycosylation_type']}-{row['carb_name'].rstrip('.')}" - - already_annotated = False - if prop_name in sequence.properties: - for prop in sequence.properties[prop_name]: - if prop.positions == [site]: - if self not in prop.sources: - prop.sources.append(self) - prop.add_subtype(subtype) - already_annotated = True - - if not already_annotated: - property_obj = GlycosylationSite(positions=[site], sources=[self]) - property_obj.add_subtype(subtype) - sequence.add_property(property_obj) + property_obj = GlycosylationSite(positions=[site], sources=[self]) + property_obj = sequence.add_property(property_obj) + property_obj.add_subtype(subtype) class MyVariant(DynamicSource, object): @logger_init diff --git a/cancermuts/table.py b/cancermuts/table.py index d170984f..c8fe907a 100644 --- a/cancermuts/table.py +++ b/cancermuts/table.py @@ -219,15 +219,12 @@ def _format_glycosylation_subtypes(self, properties): return None return ", ".join(subtypes) - def _ptm_sources_at_position(self, sequence, position): + def _ptm_sources_at_position(self, properties_at_pos): ptm_sources_list = [] for ptm_key in self.ptms.keys(): - properties_at_pos = sequence.properties_at_position(position, ptm_key) - if ptm_key in properties_at_pos: - for prop in properties_at_pos[ptm_key]: - ptm_sources_list.extend([s.name for s in prop.sources]) - ptm_sources_str = ",".join(sorted(set(ptm_sources_list))) if ptm_sources_list else None - return ptm_sources_str + for prop in properties_at_pos.get(ptm_key, []): + ptm_sources_list.extend([s.name for s in prop.sources])s + return ",".join(sorted(set(ptm_sources_list))) if ptm_sources_list else None def to_dataframe(self, sequence, mutation_metadata=['cancer_study', 'cancer_type', 'genomic_coordinates', 'genomic_mutations', 'revel_score', 'cancer_site', 'cancer_histology', 'gnomad_exome_allele_frequency', 'gnomad_genome_allele_frequency', @@ -254,17 +251,14 @@ def to_dataframe(self, sequence, mutation_metadata=['cancer_study', 'cancer_type for position, residue in sequence: row = [position, residue] + properties_at_pos = sequence.properties_at_position(position) for property_name in sequence_properties: - properties_at_pos = sequence.properties_at_position(position, property_name) - if property_name in properties_at_pos: - properties = properties_at_pos[property_name] - else: - properties = [] + properties = properties_at_pos.get(property_name, []) row.append(self._format_property_values(properties)) if property_name == 'ptm_glycosylation': row.append(self._format_glycosylation_subtypes(properties)) - row.append(self._ptm_sources_at_position(sequence, position)) + row.append(self._ptm_sources_at_position(properties_at_pos)) position_rows.append(row) position_df = pd.DataFrame(position_rows, columns=position_header) From f888a06c44d0c4aa945a0cb7e892b40bedd6e4de Mon Sep 17 00:00:00 2001 From: Eleni Kiahaki Date: Tue, 26 May 2026 11:09:38 +0200 Subject: [PATCH 3/5] updated docs --- cancermuts/properties.py | 2 +- cancermuts/table.py | 2 +- docs/metatable.csv | 30 +++++++++++++-------------- docs/metatable_pancancer.csv | 38 +++++++++++++++++------------------ docs/my_table.pdf | Bin 26164 -> 26163 bytes docs/my_table_pancancer.pdf | Bin 29005 -> 28933 bytes docs/tutorial.md | 23 +++++++++------------ docs/tutorial.py | 4 ++-- docs/tutorial_pancancer.py | 4 ++-- 9 files changed, 50 insertions(+), 53 deletions(-) diff --git a/cancermuts/properties.py b/cancermuts/properties.py index 587696a8..aee3a335 100644 --- a/cancermuts/properties.py +++ b/cancermuts/properties.py @@ -229,7 +229,7 @@ def get_value_str(self): class DisorderPropensity(SequenceProperty): description = "Structural disorder" header = "disorder_propensity" - category = 'disorder_propensity' + category = "mobidb_disorder_propensity" def __init__(self, positions, sources, disorder_state): super(DisorderPropensity, self).__init__(name="Disorder Propensity", diff --git a/cancermuts/table.py b/cancermuts/table.py index c8fe907a..c539be65 100644 --- a/cancermuts/table.py +++ b/cancermuts/table.py @@ -223,7 +223,7 @@ def _ptm_sources_at_position(self, properties_at_pos): ptm_sources_list = [] for ptm_key in self.ptms.keys(): for prop in properties_at_pos.get(ptm_key, []): - ptm_sources_list.extend([s.name for s in prop.sources])s + ptm_sources_list.extend([s.name for s in prop.sources]) return ",".join(sorted(set(ptm_sources_list))) if ptm_sources_list else None def to_dataframe(self, sequence, mutation_metadata=['cancer_study', 'cancer_type', 'genomic_coordinates', 'genomic_mutations', 'revel_score', 'cancer_site', 'cancer_histology', diff --git a/docs/metatable.csv b/docs/metatable.csv index 2f62387a..e1ca4524 100644 --- a/docs/metatable.csv +++ b/docs/metatable.csv @@ -16,12 +16,12 @@ 14,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,0.0000175821084464,,3542641,Uncertain significance,not specified,1,,,,,, 15,16,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 16,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -17,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -18,19,D,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -19,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,21,R,,,,,,,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, -21,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,23,I,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +17,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +18,19,D,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +19,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,21,R,,,,,,,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +21,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,23,I,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, 23,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 24,25,E,Q,p.Glu25Gln,25.0,25.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,0.0110493838012693,0.0119310076514071,781343,Benign,not provided,1,,,,,, 25,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, @@ -30,12 +30,12 @@ 28,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,0.0001230314960630,,2493543,Uncertain significance,not specified,1,,,,,, 29,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,0.0003805588778950,0.0012820512820513,4051121,Uncertain significance,not specified,1,,,,,, 30,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, -31,31,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -32,32,P,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -33,33,V,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -34,34,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -35,35,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -36,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +31,31,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +32,32,P,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +33,33,V,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +34,34,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +35,35,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +36,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, 37,37,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, 38,38,Y,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, 39,39,K,R,p.Lys39Arg,39.0,39.0,missense,cBioPortal,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,coadread_tcga_pan_can_atlas_2018,Colorectal Adenocarcinoma,"hg19,16:87435800-87435800","hg19,16:g.87435800A>G",0.065,,,,,,,,,,,,,,,, @@ -69,9 +69,9 @@ 67,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 68,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 69,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -70,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -71,70,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -72,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +70,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +71,70,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +72,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 73,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 74,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 75,74,N,S,p.Asn74Ser,74.0,74.0,missense,ClinVar,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,"hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,0.0003594066522904,0.0000648088139987,4103060,Uncertain significance,not specified,1,,,,,, diff --git a/docs/metatable_pancancer.csv b/docs/metatable_pancancer.csv index f3e82371..47fbadd1 100644 --- a/docs/metatable_pancancer.csv +++ b/docs/metatable_pancancer.csv @@ -18,13 +18,13 @@ 16,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,,,3542641,Uncertain significance,not specified,1,,,,,, 17,16,R,G,p.Arg16Gly,16.0,16.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87398820-87398820","hg38,16:g.87398820A>G",0.762,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, 18,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -19,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,19,D,Y,p.Asp19Tyr,19.0,19.0,missense,cBioPortal,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, -21,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,21,R,G,p.Arg21Gly,21.0,21.0,missense,cBioPortal,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, -23,21,R,Q,p.Arg21Gln,21.0,21.0,missense,"COSMIC,cBioPortal",,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,"coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, -24,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -25,23,I,F,p.Ile23Phe,23.0,23.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +19,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,19,D,Y,p.Asp19Tyr,19.0,19.0,missense,cBioPortal,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, +21,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,21,R,G,p.Arg21Gly,21.0,21.0,missense,cBioPortal,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, +23,21,R,Q,p.Arg21Gln,21.0,21.0,missense,"COSMIC,cBioPortal",,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,"coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, +24,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +25,23,I,F,p.Ile23Phe,23.0,23.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, 26,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 27,25,E,Q,p.Glu25Gln,25.0,25.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,,,,prad_msk_mdanderson_2023,Prostate,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,,,781343,Benign,not provided,1,,,,,, 28,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, @@ -34,14 +34,14 @@ 32,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,,,2493543,Uncertain significance,not specified,1,,,,,, 33,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,,,4051121,Uncertain significance,not specified,1,,,,,, 34,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, -35,31,I,N,p.Ile31Asn,31.0,31.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, -36,32,P,L,p.Pro32Leu,32.0,32.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -37,32,P,Q,p.Pro32Gln,32.0,32.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, -38,32,P,S,p.Pro32Ser,32.0,32.0,missense,COSMIC,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -39,33,V,A,p.Val33Ala,33.0,33.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, -40,34,I,T,p.Ile34Thr,34.0,34.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, -41,35,I,V,p.Ile35Val,35.0,35.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, -42,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +35,31,I,N,p.Ile31Asn,31.0,31.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, +36,32,P,L,p.Pro32Leu,32.0,32.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +37,32,P,Q,p.Pro32Gln,32.0,32.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, +38,32,P,S,p.Pro32Ser,32.0,32.0,missense,COSMIC,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +39,33,V,A,p.Val33Ala,33.0,33.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, +40,34,I,T,p.Ile34Thr,34.0,34.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, +41,35,I,V,p.Ile35Val,35.0,35.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, +42,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, 43,37,R,Q,p.Arg37Gln,37.0,37.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"luad_tcga_pan_can_atlas_2018, nsclc_tcga_broad_2016, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018","Endometrial Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer","hg19,16:87402188-87402188, hg19,16:87435794-87435794, hg38,16:87402188-87402188","hg19,16:g.87402188G>A, hg19,16:g.87435794G>A, hg38,16:g.87402188G>A",0.514,lung,"carcinoma, adenocarcinoma",0.0000039783893888,,,,,,,,,,,,, 44,38,Y,H,p.Tyr38His,38.0,38.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub",Endometrial Carcinoma,"hg19,16:87402190-87402190, hg19,16:87435796-87435796, hg38,16:87402190-87402190","hg19,16:g.87402190T>C, hg19,16:g.87435796T>C, hg38,16:g.87402190T>C",0.363,endometrium,"carcinoma, endometrioid_carcinoma",0.0000039770919504,,,,,,,,,,,,, 45,39,K,R,p.Lys39Arg,39.0,39.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"coad_tcga_gdc, coadread_tcga_pan_can_atlas_2018","Colon Adenocarcinoma, Colorectal Adenocarcinoma","hg19,16:87402194-87402194, hg19,16:87435800-87435800, hg38,16:87402194-87402194","hg19,16:g.87402194A>G, hg19,16:g.87435800A>G, hg38,16:g.87402194A>G",0.065,"large_intestine, caecum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, @@ -78,10 +78,10 @@ 76,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 77,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 78,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -79,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -80,70,R,C,p.Arg70Cys,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -81,70,R,H,p.Arg70His,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, -82,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +79,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +80,70,R,C,p.Arg70Cys,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +81,70,R,H,p.Arg70His,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, +82,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 83,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 84,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 85,74,N,S,p.Asn74Ser,74.0,74.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"gbm_mayo_pdx_sarkaria_2019, pancan_pdmr_2025","Diffuse Glioma, Mixed Cancer Types","hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,,,4103060,Uncertain significance,not specified,1,,,,,, diff --git a/docs/my_table.pdf b/docs/my_table.pdf index 7d35428ecac6b97521948667af9bbe86cb249720..3d0ede2f203ab22a7ef53a1975f87eee9a2d1b76 100644 GIT binary patch delta 6620 zcmZu!bzD{ZvR4j`poE095{ks`00aRkQ4mC6OLwP;^g6UOO1B_vz)iPwBaKL>n-q}_ z5fC2dzI)ESkNwtPYt3ioH{bbwXV$D$-g~*M_i{0w2uPvme&bkJ@u@=~UZ^rdPLia^ znR^nAW|vi1Wm~;9reP?F?(=7hQ5IE2IZ29~@aH6BfI%6%Alpx{Q-fyCFiC~csE`N! 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z{=6n*);y=L_)S+|!`+!cJF^QzP8l}Eo|Z0x3=+-ioVUAy=@P$xdu$sIZJMZrPEfSv z*4-ylGcBzlULv;*rigY5+0MX{^j1$&c%N;4I-LmokbYFm9?c}&#g|P#+R7F~6y2>t z8DKZm{kui~Nc@*H^`H6tM2InE;vOp@HVRyG&YG=606{_^a2OPom}ReO0}&Nv1^@G6 zb!H{}_W>#jfr;F-{VzBe7C@P+yLq(O$2;1q$vC*4h4b! z?OsF#4!dE4irgp*CW?amiv#|@TH){;fx$>P?C%=DNCXt|R}e4?jDp{=i9r8O@EV2q z4;=7Mn^6ep|IOxql7WCBu)nj0fT76$AYW4Ap{Kj zyM+)44Egs+AlJ)sBWWlYa>E}K4g>$y834xb8nh1TJ!;IuWGkjY{BP_zfH!hWvX!An^ZXoTAX1g^0poaNzIi zL=oT{ZACy}e=iaQ0Yl!j!NE6n1|cePBS8cL@n123|2pZ{7s1UXM8Xg^$VepY@1qDo zK}2raV6gve^>wFFqNu;d1Y8@DH?qFoqZ<`N!7%t=WH1zrg#A4x==G8KJ89^3emA(+ za{{yed;b3C*g>z`aKj-K3je#U*QT2n7ZfS__kKWOV9^_aVK9;ZUQFWux@ZwlsAyu{ RQ-wQ7I3X9;Lv?w={{zU-1V;b> diff --git a/docs/tutorial.md b/docs/tutorial.md index ee888102..342a37e8 100644 --- a/docs/tutorial.md +++ b/docs/tutorial.md @@ -834,10 +834,10 @@ We can then check the annotation as done previously: ```py >>> seq.properties_at_position(1,'mobidb_disorder_propensity') -{} +{'mobidb_disorder_propensity': []} >>> seq.properties_at_position(11,'mobidb_disorder_propensity') -{} +{'mobidb_disorder_propensity': []} ``` There are four types of annotations, here listed in order of priority. @@ -877,19 +877,16 @@ post-translational modifications which are already supplied by PhosphoSite. We can check the linear motifs we have collected: ```py ->>> seq.properties -{'ptm_acetylation': [, -, -], 'ptm_methylation': [], 'ptm_phosphorylation': [, -, +>>> seq.properties_at_position(29) +{'ptm_phosphorylation': [], 'mobidb_disorder_propensity': []} ... ``` and their specifics: ```py ->>> seq.properties['linear_motif'][0].type -'NRD cleavage site' +>>> seq.properties_at_position(10, 'linear_motif') +{'linear_motif': [, ]} ``` Alternatively, and in a very similar fashion, it is possible to use the [gget Python @@ -1013,11 +1010,11 @@ We can then verify: >>> seq.properties_at_position(3, 'ptm_phosphorylation') {'ptm_phosphorylation': []} ->>> seq.properties['linear_motif'] -[] +>>> seq.properties_at_position(10, 'linear_motif') +{'linear_motif': []} ->>> seq.properties['structure'] -[] +>>> seq.properties_at_position(30, 'structure') +{'structure':[]} ``` ## Generating the final table diff --git a/docs/tutorial.py b/docs/tutorial.py index 6d2a88ba..2ca5a350 100644 --- a/docs/tutorial.py +++ b/docs/tutorial.py @@ -158,8 +158,8 @@ exclude_elm_classes="MOD_." ) -print(seq.properties) -print(seq.properties['linear_motif'][0].type) +print(seq.properties_at_position(29)) +print(seq.properties_at_position(10, 'linear_motif')) # save table from cancermuts.table import Table diff --git a/docs/tutorial_pancancer.py b/docs/tutorial_pancancer.py index 700cc402..ff2e6176 100644 --- a/docs/tutorial_pancancer.py +++ b/docs/tutorial_pancancer.py @@ -136,8 +136,8 @@ elm = ELMPredictions() elm.add_sequence_properties(seq, exclude_elm_classes="MOD_.") -print(seq.properties) -print(seq.properties['linear_motif'][0].type) +print(seq.properties_at_position(29)) +print(seq.properties_at_position(10, 'linear_motif')) # save table from cancermuts.table import Table From 0546de7033a1dc51491e83aa1270773c1f269d6a Mon Sep 17 00:00:00 2001 From: Eleni Kiahaki Date: Tue, 26 May 2026 11:35:25 +0200 Subject: [PATCH 4/5] removed properties_by_key --- cancermuts/core.py | 14 +------------ docs/metatable_pancancer.csv | 38 +++++++++++++++++------------------ docs/my_table_pancancer.pdf | Bin 28933 -> 29005 bytes 3 files changed, 20 insertions(+), 32 deletions(-) diff --git a/cancermuts/core.py b/cancermuts/core.py index af6c6e52..e4bf0f09 100644 --- a/cancermuts/core.py +++ b/cancermuts/core.py @@ -96,7 +96,6 @@ def __init__(self, gene_id, uniprot_ac, sequence, source, isoform=None, is_canon self.sequence = sequence self.sequence_numbering = list(range(1, len(self.sequence) + 1)) self.properties_by_position = defaultdict(lambda: defaultdict(list)) - self.properties_by_key = {} def seq2index(self, seqn): """ @@ -140,18 +139,7 @@ def add_property(self, prop): if position not in self.sequence_numbering: raise ValueError(f"Property {prop} is outside sequence bounds: " f"position {position} for sequence of length {len(self.sequence)}") - property_key = (prop.category, tuple(positions)) - - if property_key in self.properties_by_key: - existing_prop = self.properties_by_key[property_key] - for source in prop.sources: - if source not in existing_prop.sources: - existing_prop.sources.append(source) - self.log.debug("adding property %s to sequence of %s (%s)"% (str(existing_prop), self.gene_id, "appending source")) - return existing_prop - - self.properties_by_key[property_key] = prop - for position in positions: + self.properties_by_position[position][prop.category].append(prop) self.log.debug("adding property %s to sequence of %s (%s)" % (str(prop), self.gene_id, "new property")) return prop diff --git a/docs/metatable_pancancer.csv b/docs/metatable_pancancer.csv index 47fbadd1..f3e82371 100644 --- a/docs/metatable_pancancer.csv +++ b/docs/metatable_pancancer.csv @@ -18,13 +18,13 @@ 16,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,,,3542641,Uncertain significance,not specified,1,,,,,, 17,16,R,G,p.Arg16Gly,16.0,16.0,missense,COSMIC,,,,,,,,,,,,,,,,"hg38,16:87398820-87398820","hg38,16:g.87398820A>G",0.762,oesophagus,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, 18,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -19,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,19,D,Y,p.Asp19Tyr,19.0,19.0,missense,cBioPortal,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, -21,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,21,R,G,p.Arg21Gly,21.0,21.0,missense,cBioPortal,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, -23,21,R,Q,p.Arg21Gln,21.0,21.0,missense,"COSMIC,cBioPortal",,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,"coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, -24,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -25,23,I,F,p.Ile23Phe,23.0,23.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, +19,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,19,D,Y,p.Asp19Tyr,19.0,19.0,missense,cBioPortal,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,mixed_pipseq_2017,Mixed Cancer Types,"hg19,16:87432435-87432435","hg19,16:g.87432435G>T",0.524,,,,,,,,,,,,,,,, +21,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,21,R,G,p.Arg21Gly,21.0,21.0,missense,cBioPortal,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,skcm_tcga,Cutaneous Melanoma,"hg19,16:87432441-87432441","hg19,16:g.87432441C>G",0.125,,,,,,,,,,,,,,,, +23,21,R,Q,p.Arg21Gln,21.0,21.0,missense,"COSMIC,cBioPortal",,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,"coad_cptac_2019, pancan_pdmr_2025, ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub, ucs_jhu_2014","Colon Adenocarcinoma, Endometrial Carcinoma, Mixed Cancer Types, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor","hg19,16:87398836-87398836, hg19,16:87432442-87432442, hg38,16:87398836-87398836","hg19,16:g.87398836G>A, hg19,16:g.87432442G>A, hg38,16:g.87398836G>A",0.066,endometrium,"carcinoma, endometrioid_carcinoma",0.0000079526657336,,,,,,,,,,,,, +24,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +25,23,I,F,p.Ile23Phe,23.0,23.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,nsclc_mskcc_2018,Non-Small Cell Lung Cancer,"hg19,16:87432447-87432447, hg38,16:87398841-87398841","hg19,16:g.87432447A>T, hg38,16:g.87398841A>T",0.632,lung,"carcinoma, squamous_cell_carcinoma",,,,,,,,,,,,,, 26,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 27,25,E,Q,p.Glu25Gln,25.0,25.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,,,,prad_msk_mdanderson_2023,Prostate,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,,,781343,Benign,not provided,1,,,,,, 28,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, @@ -34,14 +34,14 @@ 32,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,,,2493543,Uncertain significance,not specified,1,,,,,, 33,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,,,4051121,Uncertain significance,not specified,1,,,,,, 34,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, -35,31,I,N,p.Ile31Asn,31.0,31.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, -36,32,P,L,p.Pro32Leu,32.0,32.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, -37,32,P,Q,p.Pro32Gln,32.0,32.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, -38,32,P,S,p.Pro32Ser,32.0,32.0,missense,COSMIC,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, -39,33,V,A,p.Val33Ala,33.0,33.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, -40,34,I,T,p.Ile34Thr,34.0,34.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, -41,35,I,V,p.Ile35Val,35.0,35.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, -42,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +35,31,I,N,p.Ile31Asn,31.0,31.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87432472-87432472","hg19,16:g.87432472T>A",0.716,,,,,,,,,,,,,,,, +36,32,P,L,p.Pro32Leu,32.0,32.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,bcc_unige_2016,Basal Cell Carcinoma,"hg19,16:87432474-87432475, hg38,16:87398868-87398869","hg19,16:g.87432474_87432475delinsTT, hg38,16:g.87398868_87398869delinsTT",,skin,"carcinoma, basal_cell_carcinoma",,,,,,,,,,,,,, +37,32,P,Q,p.Pro32Gln,32.0,32.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,lusc_tcga_pub,Lung Squamous Cell Carcinoma,"hg19,16:87432475-87432475","hg19,16:g.87432475C>A",0.755,,,,,,,,,,,,,,,, +38,32,P,S,p.Pro32Ser,32.0,32.0,missense,COSMIC,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,"hg38,16:87398868-87398868","hg38,16:g.87398868C>T",0.812,large_intestine,"carcinoma, adenocarcinoma",,,,,,,,,,,,,, +39,33,V,A,p.Val33Ala,33.0,33.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,pancan_pdmr_2025,Mixed Cancer Types,"hg19,16:87435782-87435782","hg19,16:g.87435782T>C",0.630,,,0.0001591330431808,0.0003186946268086,,,,,,,,,,,, +40,34,I,T,p.Ile34Thr,34.0,34.0,missense,cBioPortal,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,ccle_broad_2025,Mixed Cancer Types,"hg19,16:87402179-87402179","hg19,16:g.87402179T>C",,,,,,,,,,,,,,,,, +41,35,I,V,p.Ile35Val,35.0,35.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,mm_broad,Plasma Cell Myeloma,"hg19,16:87435787-87435787, hg38,16:87402181-87402181","hg19,16:g.87435787A>G, hg38,16:g.87402181A>G",0.284,haematopoietic_and_lymphoid_tissue,"lymphoid_neoplasm, plasma_cell_myeloma",,,,,,,,,,,,,, +42,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, 43,37,R,Q,p.Arg37Gln,37.0,37.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"luad_tcga_pan_can_atlas_2018, nsclc_tcga_broad_2016, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018","Endometrial Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer","hg19,16:87402188-87402188, hg19,16:87435794-87435794, hg38,16:87402188-87402188","hg19,16:g.87402188G>A, hg19,16:g.87435794G>A, hg38,16:g.87402188G>A",0.514,lung,"carcinoma, adenocarcinoma",0.0000039783893888,,,,,,,,,,,,, 44,38,Y,H,p.Tyr38His,38.0,38.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"ucec_tcga, ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018, ucec_tcga_pub",Endometrial Carcinoma,"hg19,16:87402190-87402190, hg19,16:87435796-87435796, hg38,16:87402190-87402190","hg19,16:g.87402190T>C, hg19,16:g.87435796T>C, hg38,16:g.87402190T>C",0.363,endometrium,"carcinoma, endometrioid_carcinoma",0.0000039770919504,,,,,,,,,,,,, 45,39,K,R,p.Lys39Arg,39.0,39.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,"coad_tcga_gdc, coadread_tcga_pan_can_atlas_2018","Colon Adenocarcinoma, Colorectal Adenocarcinoma","hg19,16:87402194-87402194, hg19,16:87435800-87435800, hg38,16:87402194-87402194","hg19,16:g.87402194A>G, hg19,16:g.87435800A>G, hg38,16:g.87402194A>G",0.065,"large_intestine, caecum","carcinoma, adenocarcinoma",,,,,,,,,,,,,, @@ -78,10 +78,10 @@ 76,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 77,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 78,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -79,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -80,70,R,C,p.Arg70Cys,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, -81,70,R,H,p.Arg70His,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, -82,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +79,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +80,70,R,C,p.Arg70Cys,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"ucec_tcga_gdc, ucec_tcga_pan_can_atlas_2018",Endometrial Carcinoma,"hg19,16:87402927-87402927, hg19,16:87436533-87436533, hg38,16:87402927-87402927","hg19,16:g.87402927C>T, hg19,16:g.87436533C>T, hg38,16:g.87402927C>T",0.467,endometrium,"carcinoma, endometrioid_carcinoma",,,,,,,,,,,,,, +81,70,R,H,p.Arg70His,70.0,70.0,missense,"COSMIC,cBioPortal",,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,ccle_broad_2019,Mixed Cancer Types,"hg19,16:87436534-87436534, hg38,16:87402928-87402928","hg19,16:g.87436534G>A, hg38,16:g.87402928G>A",0.513,"upper_aerodigestive_tract, pharynx, nasopharynx","carcinoma, nasopharyngeal_carcinoma",0.0000079738457858,,,,,,,,,,,,, +82,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 83,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 84,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 85,74,N,S,p.Asn74Ser,74.0,74.0,missense,"ClinVar,cBioPortal",,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,"gbm_mayo_pdx_sarkaria_2019, pancan_pdmr_2025","Diffuse Glioma, Mixed Cancer Types","hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,,,4103060,Uncertain significance,not specified,1,,,,,, diff --git a/docs/my_table_pancancer.pdf b/docs/my_table_pancancer.pdf index 7b2d574ce4bc1975ba379046a61047a0c3734395..50672c9b71f220d2b1c64dbac3c9655db220de5a 100644 GIT binary patch delta 8898 zcmZvAby(DGx9$tlAtA^NEkl=6%rJl`Aq@i3DJ3A10#Y(`hcJ|sq#%eO-61`+ba#h@ zl!S-xJ7@2GKH2lf#G3nFaj*6Ku5~?uOE`T?I3-~?X#F=#RWaU=n@pLP3pnuLd(np+ zhnz9mkoX+e=kBWPGFoA^0j0=obd&KwD$qchW~rVK|Nw9uikwVIXUZ!1K>Fn!-LC1Pz$(**E3*ra2d%B z8aj^tys>g(A=$J4i1Ec`LbG^3P7O$xqte@M7!S8iJY0o5xp9O7!k_oD3JiLQw-r1VyM$f1%CPOJU%qAyyOq2;tjo;059BK3 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zzY>E%utx&|Kg{tljvowv98iGw?-qi=Q1IU)0fTw?ACU$Nz#heezgo0p?$Uq^FW(SU8zsc}JL64mI`FQ_6ieLc{-(wqu_di?x(CG(h{WW6vgOTqMYsiE8|E>-K zg7E$241zr5{d-IhkiesgAz&EjkuUgRp0xiufB$>zAP;xNqks@F|KDweKzJTsTo68i pzx4ru2=G5j42AIhk1zrMzG(Tt50~(rvm6!}ip|6%qbiI2e*idcU~vEd From f67d88fe8fcdfc52f6d42cfb8b1b4176784d55b6 Mon Sep 17 00:00:00 2001 From: Eleni Kiahaki Date: Thu, 28 May 2026 15:37:38 +0200 Subject: [PATCH 5/5] refactor of sequence property and docs corrections --- cancermuts/core.py | 76 +++++----- cancermuts/datasources.py | 79 ++++------- cancermuts/properties.py | 269 +++++++++++++----------------------- cancermuts/table.py | 41 +++--- docs/metatable.csv | 30 ++-- docs/my_table.pdf | Bin 26163 -> 26162 bytes docs/my_table_pancancer.pdf | Bin 29005 -> 29001 bytes docs/tutorial.md | 61 ++++---- 8 files changed, 239 insertions(+), 317 deletions(-) diff --git a/cancermuts/core.py b/cancermuts/core.py index e4bf0f09..48908796 100644 --- a/cancermuts/core.py +++ b/cancermuts/core.py @@ -33,7 +33,6 @@ import re import pandas as pd from Bio.SeqUtils import seq3 -from collections import defaultdict class Sequence(object): """The most fundamental class of Cancermuts, this class starts from a @@ -56,15 +55,16 @@ class Sequence(object): ---------- source : :obj:`cancermuts.datasources.Datasource` Source from where the protein sequence is downloaded - gene_id : :obj:`int`, optional + gene_id : :obj:`str`, optional gene name to which the sequence to be downloaded belongs sequence : :obj:`str` protein sequence as obtained from the data source sequence_numbering : :obj:`list of int` list of integers, starting from one, each representing a position - properties_by_position : :obj:`dict` - Dictionary mapping each sequence position to the sequence properties - annotated at that position. These can span one or more residues. + properties : :obj:`dict` + Dictionary mapping property names to one SequenceProperty object per + property type. Each SequenceProperty stores its own entries internally + by residue position aliases : :obj:`dict` This dictionary maps different "aliases" (i.e. identifiers) for the protein of interest. The key should represent the type of identifier @@ -95,7 +95,7 @@ def __init__(self, gene_id, uniprot_ac, sequence, source, isoform=None, is_canon self.source = source self.sequence = sequence self.sequence_numbering = list(range(1, len(self.sequence) + 1)) - self.properties_by_position = defaultdict(lambda: defaultdict(list)) + self.properties = {} def seq2index(self, seqn): """ @@ -121,28 +121,30 @@ def __iter__(self): def __repr__(self): return f"" - def add_property(self, prop): + def add_property(self, property_name, positions, sources=None, **metadata): """ - Add a SequenceProperty to the sequence and index it by sequence position. - If a property with the same category and exact positions already exists, - its sources are extended instead of storing a duplicate. + Add an entry to a sequence property. + A Sequence stores one SequenceProperty object per property name. This method + creates the property object if needed, then stores the provided entry inside + that object at the requested residue positions. - Parameters - ---------- - prop : :obj:`cancermuts.properties.SequenceProperty` - new property to be added """ - if prop.category not in sequence_properties_classes: - raise ValueError(f"Unknown property category: {prop.category}") - positions = list(prop.positions) + if property_name not in sequence_properties_classes: + raise ValueError(f"Unknown property_name: {property_name}") + + if positions is None: + positions = [] + if not isinstance(positions, list): + raise TypeError("positions must be a list of 1-based residue numbers") + for position in positions: if position not in self.sequence_numbering: - raise ValueError(f"Property {prop} is outside sequence bounds: " - f"position {position} for sequence of length {len(self.sequence)}") - - self.properties_by_position[position][prop.category].append(prop) - self.log.debug("adding property %s to sequence of %s (%s)" % (str(prop), self.gene_id, "new property")) - return prop + raise ValueError(f"Property {property_name} is outside sequence bounds: " + f"position {position} for sequence of length {len(self.sequence)}") + if property_name not in self.properties: + self.properties[property_name] = sequence_properties_classes[property_name]() + + return self.properties[property_name].add(positions=positions, sources=sources, **metadata) def _variant_wt_check(self, var): if var.start < 1 or var.end > len(self.sequence): @@ -212,23 +214,31 @@ def variants_at_position(self, position, variant_types=None): matching_variants.append(variant) return matching_variants - def properties_at_position(self, position, property_name=None): """ - If property_name is provided, return a dict of properties mapped - to the property category. - If property_name is None, return all property categories with their - properties. + Return property entries annotated at a residue position. + If property_name is provided, only entries for that property type are + returned. If property_name is None, entries for all property types present + at the position are returned. """ if position not in self.sequence_numbering: raise ValueError(f"Position {position} is outside sequence bounds: 1-{len(self.sequence)}") - if property_name is not None: + + properties = {} + if property_name is None: + property_names = self.properties.keys() + else: if property_name not in sequence_properties_classes: raise ValueError(f"Unknown property_name: {property_name}") - props = self.properties_by_position.get(position, {}).get(property_name, []) - return {property_name: list(props)} if props else {} - return {this_property_name: list(props) for this_property_name, props - in self.properties_by_position.get(position, {}).items()} + property_names = [property_name] + + for property_name in property_names: + if property_name not in self.properties: + continue + entries = self.properties[property_name].get_entries_at(position) + if entries: + properties[property_name] = entries + return properties class ProteinVariant(object): diff --git a/cancermuts/datasources.py b/cancermuts/datasources.py index 68164a42..4b59d74b 100644 --- a/cancermuts/datasources.py +++ b/cancermuts/datasources.py @@ -1929,14 +1929,13 @@ def add_sequence_properties(self, sequence, properties=None): if sequence.sequence[site_seq_idx] != wt: self.log.warning("for PTM %s, residue %s is %s in wild-type sequence; it will be skipped" %(m, wt, sequence.sequence[site_seq_idx])) continue - prop_name = self._ptm_types_to_classes[ptm] - property_obj = sequence_properties_classes[prop_name](sources=[self], positions=[site]) - property_obj = sequence.add_property(property_obj) - self.log.info("adding/updatng %s to site %s" % (m, property_obj.name)) if ptm == "O-GalNAc" or ptm == "O-GlcNAc": - property_obj.add_subtype(ptm) + sequence.add_property(prop_name, positions=[site], sources=[self], subtype=ptm) + else: + sequence.add_property(prop_name, positions=[site], sources=[self]) + self.log.info("adding %s as %s" % (m, prop_name)) class dbPTM(DynamicSource, object): @logger_init @@ -2009,22 +2008,12 @@ def add_sequence_properties(self, sequence, properties=None): continue prop_name = self._ptm_types_to_classes[ptm] - property_obj = sequence_properties_classes[prop_name](sources=[self], positions=[site]) - property_obj = sequence.add_property(property_obj) if ptm in self._glyco_subtypes: + sequence.add_property(prop_name, positions=[site], sources=[self], subtype=self._glyco_subtypes[ptm]) + else: + sequence.add_property(prop_name, positions=[site], sources=[self]) - new_subtype = self._glyco_subtypes[ptm] - existing_subtypes = property_obj.metadata.get("subtypes", []) - base = new_subtype.split("-")[0] - - has_specific = any( - st.startswith(base + "-") and st != new_subtype - for st in existing_subtypes - ) - - if not has_specific and new_subtype not in existing_subtypes: - property_obj.add_subtype(new_subtype) class NetPhos(StaticSource, object): @logger_init @@ -2119,9 +2108,8 @@ def add_sequence_properties(self, sequence, properties=None): f"{sequence.sequence[site_seq_idx]} in wild-type sequence; it will be skipped") continue - prop = sequence_properties_classes[prop_name](sources=[self], positions=[site]) - prop = sequence.add_property(prop) - self.log.info(f"adding/updating {site_label} to site {prop.name}") + sequence.add_property(prop_name, positions=[site], sources=[self]) + self.log.info(f"adding/updating {site_label} to site {prop_name}") class GlyGen(StaticSource, object): @logger_init @@ -2153,9 +2141,7 @@ def add_sequence_properties(self, sequence): site = int(row['glycosylation_site_uniprotkb']) subtype = f"{row['glycosylation_type']}-{row['carb_name'].rstrip('.')}" - property_obj = GlycosylationSite(positions=[site], sources=[self]) - property_obj = sequence.add_property(property_obj) - property_obj.add_subtype(subtype) + sequence.add_property(prop_name, positions=[site], sources=[self], subtype=subtype) class MyVariant(DynamicSource, object): @logger_init @@ -2697,14 +2683,12 @@ def add_sequence_properties(self, sequence, exclude_elm_classes=r'{.*}', use_ali sequence.seq2index(p) this_positions.append(p) - property_obj = sequence_properties_classes['linear_motif'] (sources=[self], - positions=this_positions, - name=self._elm_classes[d[0]][0], - id=d[0]) - - property_obj.metadata['function'] = [self._elm_classes[d[0]][0]] - property_obj.metadata['ref'] = self.description - sequence.add_property(property_obj) + sequence.add_property("linear_motif", positions=this_positions, + sources=[self], + name=self._elm_classes[d[0]][0], + id=d[0], + function=[self._elm_classes[d[0]][0]], + ref=self.description) class ggetELMPredictions(StaticSource, object): @logger_init @@ -2778,14 +2762,12 @@ def add_sequence_properties(self, sequence, exclude_elm_classes=r'{.*}'): sequence.seq2index(p) this_positions.append(p) - property_obj = sequence_properties_classes['linear_motif'] (sources=[self], - positions=this_positions, - name=r['FunctionalSiteName'], - id=r['ELMIdentifier']) - - property_obj.metadata['function'] = [r['Description']] - property_obj.metadata['ref'] = self.description - sequence.add_property(property_obj) + sequence.add_property("linear_motif", positions=this_positions, + sources=[self], + name=r["FunctionalSiteName"], + id=r["ELMIdentifier"], + function=[r["Description"]], + ref=self.description) class gnomAD(DynamicSource, object): @@ -3296,11 +3278,7 @@ def _get_mobidb_disorder_predictions(self, sequence, *args, **kwargs): return False for i,a in enumerate(assignments): - property_obj = sequence_properties_classes['mobidb_disorder_propensity']( - positions=[i+1], - sources=[self], - disorder_state=a) - sequence.add_property(property_obj) + sequence.add_property("mobidb_disorder_propensity", positions=[i + 1], sources=[self], disorder_state=a) def _get_mobidb_disorder_predictions_assignments(self, sequence, *args, **kwargs): if 'use_alias' in kwargs: @@ -3569,12 +3547,9 @@ def add_sequence_properties(self, sequence, prop=_supported_sequence_properties) continue if row['type'] in self._ptm_keywords: - property_obj = sequence_properties_classes[row['type']](sources=[self], positions=positions) + sequence.add_property( + row['type'], positions=positions, sources=[self], function=row['function'], reference=row['reference']) else: - property_obj = sequence_properties_classes[row['type']](sources=[self], positions=positions, - name=row['name']) - - property_obj.metadata['function'] = row['function'] - property_obj.metadata['reference'] = row['reference'] + sequence.add_property(row['type'], positions=positions, sources=[self], name=row['name'], function=row['function'], + reference=row['reference']) - sequence.add_property(property_obj) diff --git a/cancermuts/properties.py b/cancermuts/properties.py index aee3a335..fbef13dd 100644 --- a/cancermuts/properties.py +++ b/cancermuts/properties.py @@ -24,37 +24,73 @@ Classes to handle properties of sequence or positions """ +from collections import defaultdict + class SequenceProperty(object): - def __init__(self, name, positions=None, sources=None, values=None, metadata=None): - self.name = name + description = None + header = None + category = None + code = None + name = None + + def __init__(self): + self.data_by_pos = defaultdict(list) + + def add(self, positions, sources=None, value=None, **metadata): if positions is None: - self.positions = [] - else: - self.positions = positions + positions = [] - if not isinstance(self.positions, list): + if not isinstance(positions, list): raise TypeError("positions must be a list of 1-based residue numbers") if sources is None: - self.sources = [] - else: - self.sources = sources - if values is None: - self.values = [] - else: - self.values = values - if metadata is None: - self.metadata = {} - else: - self.metadata = metadata + sources = [] - def __repr__(self): - sources_str = ", ".join([x.name for x in self.sources]) - positions_str = ",".join([str(pos) for pos in self.positions]) + entry = {"positions": positions, + "sources": sources, + "value": value, + "metadata": metadata} + + for position in positions: + self.data_by_pos[position].append(entry) + + return entry - return "" % (self.name, sources_str, positions_str) + def get_entries_at(self, position): + return self.data_by_pos.get(position, []) + + def get_value_at(self,position): + entries = self.get_entries_at(position) + if len(entries) == 0: + return None + + values = [] + for entry in entries: + value = self.get_value_str(entry) + values.append(value) + return values + + def get_sources_at(self, position): + sources = [] + for entry in self.get_entries_at(position): + for source in entry.get("sources", []): + if source not in sources: + sources.append(source) + return sources + + def get_value_str(self, entry): + return entry.get("value") + + def __getitem__(self, position): + return self.get_entries_at(position) + + def __repr__(self): + return "Sequence property '%s' of category '%s' with data at positions %s" % (self.description, self.category, + sorted(self.data_by_pos.keys())) + def __str__(self): + return "Sequence property '%s'" % self.description class LinearMotif(SequenceProperty): @@ -62,220 +98,111 @@ class LinearMotif(SequenceProperty): header = "linear_motif" category = 'linear_motif' - def __init__(self, positions, sources, name="", id=""): - super(LinearMotif, self).__init__( name="Linear motif", - positions=positions, - sources=sources, - values=None, - metadata=None ) - self.type = name - self.id = id - - def get_value_str(self): - return f'{self.type} ({self.id}), {self.positions[ 0]}-{self.positions[-1]}, {",".join(s.name for s in self.sources)}' + def add(self, positions, sources=None, name="", id="", **metadata): + metadata["type"] = name + metadata["id"] = id + return super(LinearMotif, self).add(positions=positions, sources=sources, **metadata) + def get_value_str(self, entry): + return "%s (%s), %s-%s, %s" % (entry["metadata"]["type"], entry["metadata"]["id"], entry["positions"][0], + entry["positions"][-1], ",".join(s.name for s in entry["sources"])) class Structure(SequenceProperty): description = "Structure" header = "structure" category = 'structure' - def __init__(self, positions, sources, name=""): - super(Structure, self).__init__( name="Structure", - positions=positions, - sources=sources, - values=None, - metadata=None ) - self.type = name - - def get_value_str(self): - return "%s, %d-%d, %s" % ( self.type, - self.positions[ 0], - self.positions[-1], - ",".join(s.name for s in self.sources)) + def add(self, positions, sources=None, name="", **metadata): + metadata["type"] = name + return super(Structure, self).add(positions=positions,sources=sources,**metadata) + def get_value_str(self, entry): + return "%s, %d-%d, %s" % (entry["metadata"]["type"], entry["positions"][0], + entry["positions"][-1], ",".join(s.name for s in entry["sources"])) +class PTMSite(SequenceProperty): + def get_value_str(self, entry): + return self.code -class PhosphorylationSite(SequenceProperty): +class PhosphorylationSite(PTMSite): description = "Phosphorylation site" header = "phosphorylation_site" - category="ptm_phosphorylation" + category = "ptm_phosphorylation" code = "P" - def __init__(self, positions, sources): - super(PhosphorylationSite, self).__init__( name="Phosphorylation Site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - - def get_value_str(self): - return self.code - -class MethylationSite(SequenceProperty): +class MethylationSite(PTMSite): description = "Methylation site" header = "methylation_site" - category="ptm_methylation" + category = "ptm_methylation" code = "Me" - def __init__(self, positions, sources): - super(MethylationSite, self).__init__( name="Methylation Site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - - def get_value_str(self): - return self.code - -class AcetylationSite(SequenceProperty): +class AcetylationSite(PTMSite): description = "Acetylation site" header = "acetylation_site" category='ptm_acetylation' code = 'Ac' - def __init__(self, positions, sources): - super(AcetylationSite, self).__init__( name="Acetylation Site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - - def get_value_str(self): - return self.code - -class SNitrosylationSite(SequenceProperty): +class SNitrosylationSite(PTMSite): description = "S-Nitrosylation site" header = "s-nitrosylation_site" category='ptm_nitrosylation' code = "SN" - def __init__(self, positions, sources): - super(SNitrosylationSite, self).__init__( name="S-Nytrosilation site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - - def get_value_str(self): - return self.code - -class GlycosylationSite(SequenceProperty): +class GlycosylationSite(PTMSite): description = "Glycosylation site" header = "glycosylation_site" category='ptm_glycosylation' code = "Gly" - def __init__(self, positions, sources): - super(GlycosylationSite, self).__init__( name="Glycosylation Site", - positions=positions, - sources=sources, - values={}, - metadata={"subtypes": []} ) + def add(self, positions, sources=None, subtype=None, **metadata): + metadata["subtypes"] = [] - def add_subtype(self,subtype): - if subtype not in self.metadata["subtypes"]: - self.metadata["subtypes"].append(subtype) + if subtype is not None: + metadata["subtypes"].append(subtype) - def get_value_str(self): - return self.code + return super(GlycosylationSite, self).add(positions=positions, sources=sources, **metadata) -class SumoylationSite(SequenceProperty): +class SumoylationSite(PTMSite): description = "Sumoylation site" header = "sumoyylation_site" category='ptm_sumoylation' code = "Sumo" - def __init__(self, positions, sources): - super(SumoylationSite, self).__init__( name="Sumoylation Site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - def get_value_str(self): - return self.code - -class UbiquitinationSite(SequenceProperty): +class UbiquitinationSite(PTMSite): description = "Ubiquitination site" header = "ubiquitination_site" category='ptm_ubiquitination' code = 'Ubq' - def __init__(self, positions, sources): - super(UbiquitinationSite, self).__init__( name="Ubiquitination Site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - def get_value_str(self): - return self.code - -class CleavageSite(SequenceProperty): +class CleavageSite(PTMSite): description = "Caspase cleavage site" header = "cleavage_site" category='ptm_cleavage' code = 'C' - def __init__(self, positions, sources): - super(CleavageSite, self).__init__( name="Caspase cleavage site", - positions=positions, - sources=sources, - values={}, - metadata={} ) - - def get_value_str(self): - return self.code - class DisorderPropensity(SequenceProperty): description = "Structural disorder" header = "disorder_propensity" category = "mobidb_disorder_propensity" - def __init__(self, positions, sources, disorder_state): - super(DisorderPropensity, self).__init__(name="Disorder Propensity", - positions=positions, - sources=sources, - values={}, - metadata={}) - self.disorder_propensity = disorder_state - - def get_value(self): - return self.disorder_propensity - - def get_value_str(self): - return self.disorder_propensity - - def __repr__(self): - return "" % self.disorder_propensity - - def __str__(self): - return self.__repr__() - - def __eq__(self, other): - return self.sources == other.sources and \ - self.disorder_propensity == other.disorder_propensity - - def __hash__(self): - return hash((self.sources, self.disorder_propensity)) + def add(self, positions, sources=None, disorder_state=None, **metadata): + return super(DisorderPropensity, self).add(positions=positions, value=disorder_state, + sources=sources, **metadata) + def get_value_str(self, entry): + return entry.get("value") class Structured(DisorderPropensity): - def __init__(self, positions, sources): - super(Ordered, self).__init__(name="Disorder Propensity", - positions=positions, - sources=sources, - disorder_state='S') + def add(self, positions, sources=None, **metadata): + return super(Structured, self).add(positions=positions, sources=sources, disorder_state="S", **metadata) class Disordered(DisorderPropensity): - def __init__(self, positions, sources): - super(Ordered, self).__init__(name="Disorder Propensity", - positions=positions, - sources=sources, - disorder_state='D') + def add(self, positions, sources=None, **metadata): + return super(Disordered, self).add(positions=positions, sources=sources, disorder_state="D", **metadata) sequence_properties_classes = { 'ptm_phosphorylation' : PhosphorylationSite, 'ptm_methylation' : MethylationSite, 'ptm_acetylation' : AcetylationSite, - 'ptm_nitrosylation' : SNitrosylationSite, + 'ptm_nitrosylation' : SNitrosylationSite, 'ptm_glycosylation' : GlycosylationSite, 'ptm_sumoylation' : SumoylationSite, 'ptm_ubiquitination' : UbiquitinationSite, diff --git a/cancermuts/table.py b/cancermuts/table.py index c539be65..b32b76dc 100644 --- a/cancermuts/table.py +++ b/cancermuts/table.py @@ -197,10 +197,13 @@ def _format_metadata_values(self, values, metadata_key): md_str = ", ".join(sorted(set(map(str, md_values)))) return md_str - def _format_property_values(self, properties): + def _format_property_values(self, property_obj, entries): + if property_obj is None: + return None + values = [] - for prop in properties: - value = prop.get_value_str() + for entry in entries: + value = property_obj.get_value_str(entry) if value is None or value != value: continue if value not in values: @@ -209,21 +212,25 @@ def _format_property_values(self, properties): return None return "|".join(map(str, values)) - def _format_glycosylation_subtypes(self, properties): - subtypes = [] - for prop in properties: - for subtype in prop.metadata["subtypes"]: - if subtype not in subtypes: - subtypes.append(subtype) - if len(subtypes) == 0: + def _format_glycosylation_subtypes(self, entries): + existing_subtypes = [] + for entry in entries: + for new_subtype in entry.get("metadata", {}).get("subtypes", []): + base = new_subtype.split("-")[0] + has_specific = any(st.startswith(base + "-") and st != new_subtype for st in existing_subtypes) + + if not has_specific and new_subtype not in existing_subtypes: + existing_subtypes.append(new_subtype) + + if len(existing_subtypes) == 0: return None - return ", ".join(subtypes) + return ", ".join(existing_subtypes) def _ptm_sources_at_position(self, properties_at_pos): ptm_sources_list = [] for ptm_key in self.ptms.keys(): - for prop in properties_at_pos.get(ptm_key, []): - ptm_sources_list.extend([s.name for s in prop.sources]) + for entry in properties_at_pos.get(ptm_key, []): + ptm_sources_list.extend([source.name for source in entry.get("sources", [])]) return ",".join(sorted(set(ptm_sources_list))) if ptm_sources_list else None def to_dataframe(self, sequence, mutation_metadata=['cancer_study', 'cancer_type', 'genomic_coordinates', 'genomic_mutations', 'revel_score', 'cancer_site', 'cancer_histology', @@ -254,10 +261,12 @@ def to_dataframe(self, sequence, mutation_metadata=['cancer_study', 'cancer_type properties_at_pos = sequence.properties_at_position(position) for property_name in sequence_properties: - properties = properties_at_pos.get(property_name, []) - row.append(self._format_property_values(properties)) + entries = properties_at_pos.get(property_name, []) + property_obj = sequence.properties.get(property_name) + + row.append(self._format_property_values(property_obj, entries)) if property_name == 'ptm_glycosylation': - row.append(self._format_glycosylation_subtypes(properties)) + row.append(self._format_glycosylation_subtypes(entries)) row.append(self._ptm_sources_at_position(properties_at_pos)) position_rows.append(row) diff --git a/docs/metatable.csv b/docs/metatable.csv index e1ca4524..2f62387a 100644 --- a/docs/metatable.csv +++ b/docs/metatable.csv @@ -16,12 +16,12 @@ 14,15,Q,R,p.Gln15Arg,15.0,15.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432424-87432424, hg38,16:87398818-87398818","hg19,16:g.87432424A>G, hg38,16:g.87398818A>G",0.193,,,0.0000079532982328,,0.0000175821084464,,3542641,Uncertain significance,not specified,1,,,,,, 15,16,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 16,17,V,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, -17,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -18,19,D,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -19,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -20,21,R,,,,,,,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, -21,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, -22,23,I,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +17,18,E,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +18,19,D,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +19,20,V,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +20,21,R,,,,,,,,Me,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,PhosphoSite,,,,,,,,,,,,,,,,,,,,, +21,22,L,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, +22,23,I,,,,,,,,,,,,,,,,,"Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_BaEn_1), 18-23, ELM|Adaptin binding Endosome-Lysosome-Basolateral sorting signals (TRG_DiLeu_LyEn_5), 18-23, ELM",,,,,,,,,,,,,,,,,,,,,,, 23,24,R,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 24,25,E,Q,p.Glu25Gln,25.0,25.0,missense,ClinVar,,,,,,,,,,,,,,,,"hg19,16:87432453-87432453, hg38,16:87398847-87398847","hg19,16:g.87432453G>C, hg38,16:g.87398847G>C",0.061,,,0.0060480984873789,0.0070709644540706,0.0110493838012693,0.0119310076514071,781343,Benign,not provided,1,,,,,, 25,26,Q,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, @@ -30,12 +30,12 @@ 28,29,T,I,p.Thr29Ile,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>T, hg38,16:g.87398860C>T",0.168,,,0.0000079527922254,,0.0001230314960630,,2493543,Uncertain significance,not specified,1,,,,,, 29,29,T,N,p.Thr29Asn,29.0,29.0,missense,ClinVar,P,,,,,,,,,,,,"PhosphoSite,dbPTM",,,"hg19,16:87432466-87432466, hg38,16:87398860-87398860","hg19,16:g.87432466C>A, hg38,16:g.87398860C>A",0.067,,,0.0000278347727887,0.0000636739891754,0.0003805588778950,0.0012820512820513,4051121,Uncertain significance,not specified,1,,,,,, 30,30,K,,,,,,,,,Ubq,,,Ac,,,,,,,"PhosphoSite,dbPTM",,,,,,,,,,,,,,,,,,,,, -31,31,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -32,32,P,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -33,33,V,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -34,34,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -35,35,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, -36,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +31,31,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +32,32,P,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +33,33,V,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +34,34,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +35,35,I,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, +36,36,E,,,,,,,,,,,,,,,,,"PP2A holoenzyme B56-docking site (DOC_PP2A_B56_1), 31-36, ELM|SUMO interaction site (LIG_SUMO_SIM_par_1), 31-36, ELM",,,,,,,,,,,,,,,,,,,,,,, 37,37,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, 38,38,Y,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,,,,,,,,,,,,,,,,,,,,, 39,39,K,R,p.Lys39Arg,39.0,39.0,missense,cBioPortal,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 37-46, ELM",,,coadread_tcga_pan_can_atlas_2018,Colorectal Adenocarcinoma,"hg19,16:87435800-87435800","hg19,16:g.87435800A>G",0.065,,,,,,,,,,,,,,,, @@ -69,9 +69,9 @@ 67,66,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 68,67,I,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 69,68,R,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -70,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -71,70,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, -72,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +70,69,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +71,70,R,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 67-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 68-70, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, +72,71,L,,,,,,,,,,,,,,,,,"NRD cleavage site (CLV_NRD_NRD_1), 69-71, ELM|MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|di Arginine retention/retrieving signal (TRG_ER_diArg_1), 69-71, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 73,72,Q,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 74,73,L,,,,,,,,,,,,,,,,,"MAPK docking motifs (DOC_MAPK_gen_1), 65-73, ELM|NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,,,,,,,,,,,,,,,,,,, 75,74,N,S,p.Asn74Ser,74.0,74.0,missense,ClinVar,,,,,,,,,,,"NES Nuclear Export Signals (TRG_NES_CRM1_1), 62-77, ELM",,,,,"hg19,16:87436546-87436546, hg38,16:87402940-87402940","hg19,16:g.87436546A>G, hg38,16:g.87402940A>G",0.145,,,0.0000796400270776,0.0000318410494810,0.0003594066522904,0.0000648088139987,4103060,Uncertain significance,not specified,1,,,,,, diff --git a/docs/my_table.pdf b/docs/my_table.pdf index 3d0ede2f203ab22a7ef53a1975f87eee9a2d1b76..c33f455d6fbbf71763874821d167edaf9f35d927 100644 GIT binary patch delta 5128 zcmZuybzD^K*1e!03@srk4Gwu`m;?m@LBLT21nE#3Bn1g!lo*ii5?-ZCLXd8hE)^uD zOOQrnD7oYNyRYB9%y<4eXP>>Fwf5R;pHtpTQr1gST1biweu^6!UwNGBVt!6IFO6cA zlk!#M&>fqZAMY~VG{NsJllUw6*-_|qkL7sU76a)!Xus2i$Bew$u33?($iR~Y*gWQL zM40QkvBevgu?PMRLt0yEmom~~2Q@n7SF#ub`S*8Qu`adAdl#-PxQ}Mto~L6uZo&JT z)8wlx^hVQS)9q&#-kmdKE0f^N=WHQl9z=GOXQgra?+jZ>L*wX=b8}zLm|1OGZ>UT% 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+168,9 @@ This is done as follows: >>> print(seq.sequence) MPSEKTFKQRRTFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEVYESEKDEDGFLYMVYASQETFGMKLSV -# the seq.positions attribute is an ordered list of the protein positions: +# the seq.sequence_numbering attribute is an ordered list of the protein positions: >>> print(seq.sequence_numbering[0:3]) - +[1, 2, 3] ``` ```py @@ -297,7 +297,7 @@ mutations for cBioPortal: [, ] ``` -Each mutation is recorded in a Mutation object that can be further explored: +Each mutation is recorded in a ProteinVariant object that can be further explored: ```py >>> seq.variants_at_position(65) @@ -332,8 +332,8 @@ Note that COSMIC supports non-canonical alternative isoforms. ```py cosmic = COSMIC(targeted_database_file='/data/databases/cosmic-v102/Cosmic_CompleteTargetedScreensMutant_v102_GRCh38.tsv', screen_mutant_database_file='/data/databases/cosmic-v102/Cosmic_GenomeScreensMutant_v102_GRCh38.tsv', -classification_database_fil='/data/databases/cosmic-v102/Cosmic_Classification_v102_GRCh38.tsv', -database_encoding='latin1', lazy_load_db= rue) +classification_database_file='/data/databases/cosmic-v102/Cosmic_Classification_v102_GRCh38.tsv', +database_encoding='latin1', lazy_load_db= True) ``` here the `targeted_database_file`, `screen_mutant_database_file`, `classification_database_file` argument are strings. @@ -451,7 +451,7 @@ Once complete, mutations identified by ClinVar will be added to the appropriate ``` -Each mutation is recorded in a Mutation object that can be further explored: +Each mutation is recorded in a ProteinVariant object that can be further explored: ```py >>> seq.variants_at_position(15) @@ -596,8 +596,7 @@ Finally we can check the downloaded metadata: ```py >>> seq.variants_at_position(65)[0].metadata['gnomad_exome_allele_frequency'] -[, - ] +[, ] >>> seq.variants_at_position(65)[0].metadata['gnomad_genome_allele_frequency'] [] @@ -645,8 +644,8 @@ dictionary associating each PTM to a file name: the keys of the dictionaries should be the options supported in the `properties` argument of the `add_sequence_properties` (see below). -Once the object is created we can add the position properties to our sequence -object. If no `properties` is supplied, all of them will be considered. Otherwise, +Once the object is created we can add sequence property annotations to our Sequence object. +If no `properties` is supplied, all of them will be considered. Otherwise, the `properties` object should be a list of the keywords corresponding to the PTMs that we want to be annotated, as follows: @@ -677,10 +676,10 @@ Once again, we can check the result: ```py >>> seq.properties_at_position(5) -{'ptm_ubiquitination': []} +{'ptm_ubiquitination': [{'positions': [5], 'sources': [], 'value': None, 'metadata': {}}]} >>> seq.properties_at_position(29) -{'ptm_phosphorylation': []} +{'ptm_phosphorylation': [{'positions': [29], 'sources': [], 'value': None, 'metadata': {}}]} ``` #### Post-translational modifications with dbPTM @@ -708,7 +707,7 @@ ones (e.g. Phosphorylation, Acetylation, N-linked_Glycosylation, etc.). However ``` The keys of the dictionaries should be the options supported by the dbPTM datasource (see `cancermuts.datasources.dbPTM._ptm_types`). -Once the object is created we can add the position properties to our sequence +Once the object is created we can add the sequence properties to our sequence object. The dbPTM datasource currently supports the following PTM annotations: @@ -734,7 +733,7 @@ For glycosylation sites, dbPTM provides the glycosylation type, which is stored | C-linked glycosylation | `C-Gly` | | S-linked glycosylation | `S-Gly` | -If a glycosylation site is already annotated with a more specific subtype (for example O-GalNAc or O-GlcNAc from PhosphoSite), the generic O-Gly subtype from dbPTM is not added in order to avoid redundant information. +For glycosylation sites, dbPTM provides the glycosylation type, which is stored as subtype metadata on the corresponding `ptm_glycosylation` entry. In the metatable, glycosylation subtypes with the same base type, such as multiple `O-*` annotations, are collapsed to the first subtype encountered. Once again, we can check the result: @@ -743,7 +742,8 @@ Once again, we can check the result: {} >>> seq.properties_at_position(29, 'ptm_phosphorylation') -{'ptm_phosphorylation': []} +{'ptm_phosphorylation': [{'positions': [29], 'sources': [], 'value': None, 'metadata': {}}, {'positions': [29], 'sources': [], 'value': None, 'metadata': {}}]} + ``` #### Predicted phosphorylation sites with NetPhos @@ -752,8 +752,8 @@ We can also annotate predicted phosphorylation sites using a local **NetPhos** dataset. In contrast to PhosphoSite and dbPTM, which provide experimentally derived PTM annotations, NetPhos provides **predicted phosphorylation sites**. -Cancermuts imports these predictions as regular phosphorylation position -properties (`ptm_phosphorylation`). +Cancermuts imports these predictions as `ptm_phosphorylation` sequence property +entries. We first create the NetPhos data source object. We need to supply the location of the directory containing the NetPhos output files: @@ -770,7 +770,7 @@ whereas for non-canonical isoforms it uses the isoform identifier By default, NetPhos annotations are added for residues of type `S`, `T`, or `Y` when the predicted score is higher than `0.5`. -Once the object is created, we can add the position properties to our sequence +Once the object is created, we can add the property to our sequence object: ```py @@ -788,7 +788,7 @@ Once again, we can check the result: ```py >>> seq.properties_at_position(3, 'ptm_phosphorylation') -{'ptm_phosphorylation': []} +{'ptm_phosphorylation': [{'positions': [3], 'sources': [], 'value': None, 'metadata': {}}]} ``` In this case, the phosphorylation annotation was added from a NetPhos prediction @@ -806,11 +806,11 @@ We first create the GlyGen data source object by specifying the location of the ```py >>> gg = GlyGen('/data/databases/GlyGen/', database_file='human_proteoform_glycosylation_sites_uniprotkb_filtered.csv') ``` -Once the object is created we can add the position properties to our sequence object. +Once the object is created we can add the property to our sequence object. -GlyGen annotates glycosylation sites by adding a ptm_glycosylation property to the corresponding sequence positions. Each site is associated with a subtype that combines the glycosylation type (e.g. N, O) and the glycan name. +GlyGen annotates glycosylation sites by adding a ptm_glycosylation property to the sequence. Each site is associated with a subtype that combines the glycosylation type (e.g. N, O) and the glycan name. -If multiple glycosylation annotations are available for the same position, they are merged into a single property, and all subtypes are retained. +If multiple glycosylation annotations are available for the same position, they are stored as separate entries in the `ptm_glycosylation` property object, and their subtypes are summarized in the table output. We can inspect the result as follows: @@ -834,10 +834,10 @@ We can then check the annotation as done previously: ```py >>> seq.properties_at_position(1,'mobidb_disorder_propensity') -{'mobidb_disorder_propensity': []} +{'mobidb_disorder_propensity': [{'positions': [1], 'sources': [], 'value': None, 'metadata': {}}]} >>> seq.properties_at_position(11,'mobidb_disorder_propensity') -{'mobidb_disorder_propensity': []} +{'mobidb_disorder_propensity': [{'positions': [11], 'sources': [], 'value': None, 'metadata': {}}]} ``` There are four types of annotations, here listed in order of priority. @@ -850,7 +850,7 @@ There are four types of annotations, here listed in order of priority. * Disordered, predicted * Based on predictions -If none of these data are available for the consensus, the residue will not be annotated. +If no disorder evidence is available for a residue, the disorder value may be `None`. For more information about the types of evidence, please see the [MobiDB vocabulary](https://mobidb.bio.unipd.it/about/vocabulary) @@ -878,7 +878,7 @@ We can check the linear motifs we have collected: ```py >>> seq.properties_at_position(29) -{'ptm_phosphorylation': [], 'mobidb_disorder_propensity': []} +{'ptm_phosphorylation': [{'positions': [29], 'sources': [], 'value': None, 'metadata': {}}, {'positions': [29], 'sources': [], 'value': None, 'metadata': {}}], 'mobidb_disorder_propensity': [{'positions': [29], 'sources': [], 'value': None, 'metadata': {}}]} ... ``` @@ -886,7 +886,8 @@ and their specifics: ```py >>> seq.properties_at_position(10, 'linear_motif') -{'linear_motif': [, ]} +{'linear_motif': [{'positions': [10, 11, 12], 'sources': [], 'value': None, 'metadata': {'function': ['NRD cleavage site'], 'ref': 'ELM Prediction', 'type': 'NRD cleavage site', 'id': 'CLV_NRD_NRD_1'}}, {'positions': [10, 11, 12, 13, 14], 'sources': [], 'value': None, 'metadata': {'function': ['14-3-3 binding phosphopeptide motif'], 'ref': 'ELM Prediction', 'type': '14-3-3 binding phosphopeptide motif', 'id': 'LIG_14-3-3_CanoR_1'}}]} + ``` Alternatively, and in a very similar fashion, it is possible to use the [gget Python @@ -1008,13 +1009,13 @@ We can then verify: [] >>> seq.properties_at_position(3, 'ptm_phosphorylation') -{'ptm_phosphorylation': []} +{'ptm_phosphorylation': [{'positions': [3], 'sources': [], 'value': None, 'metadata': {'function': 'asd', 'reference': ''}}]} >>> seq.properties_at_position(10, 'linear_motif') -{'linear_motif': []} +{'linear_motif': [{'positions': [10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25], 'sources': [], 'value': None, 'metadata': {'function': 'zzz', 'reference': '', 'type': 'zxc', 'id': ''}}]} >>> seq.properties_at_position(30, 'structure') -{'structure':[]} +{'structure': [{'positions': [30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40], 'sources': [], 'value': None, 'metadata': {'function': 'xxx', 'reference': '', 'type': 'ert'}}]} ``` ## Generating the final table