Name,GeneSymbol,RS# (dbSNP),RCVaccession,PhenotypeIDS,PhenotypeList,Assembly,ChromosomeAccession,Chromosome,Start,Stop,ReferenceAllele,AlternateAllele,VariationID,PositionVCF,ReferenceAlleleVCF,AlternateAlleleVCF,ClinVar_annotation,gold_stars,gene,mRNA,mRNA_promoter,mRNA_exon,coding_sequence,start_codon,stop_codon,five_prime_UTR,three_prime_UTR,mRNA_intron,mRNA_splice,lncRNA,lncRNA_promoter,lncRNA_exon,snRNA,snRNA_promoter,snRNA_exon,antisenseRNA,antisenseRNA_promoter,antisenseRNA_exon,telomeraseRNA,telomeraseRNA_promoter,telomeraseRNA_exon,RNaseMRPRNA,RNaseMRPRNA_promoter,RNaseMRPRNA_exon,snoRNA,snoRNA_promoter,snoRNA_exon,other,transcript_set,promoter_transcript_set,row_sum,ClinVarName_splice,ClinVarName_RNA_gene,ClinVarName_raw_protein_change,ClinVarName_failed_parsing_protein_change,ClinVarName_start_pos,ClinVarName_end_pos,ClinVarName_start_aa,ClinVarName_end_aa,ClinVarName_alt,ClinVarName_refseq_ids,ClinVarName_coding_sequence,gnomAD_AF,ClinVar_category,ESM1b_score,urn_mavedb_00000068-b-1_scores,urn_mavedb_00001234-g-1_scores,TP53_DNE_urn_mavedb_00001235-a-1_scores,urn_mavedb_00001234-e-1_scores,urn_mavedb_00001234-d-1_scores,urn_mavedb_00001213-a-1_scores,TP53_transcription_urn_mavedb_00001234-0-1_scores,urn_mavedb_00001236-0-1_scores,urn_mavedb_00001234-h-1_scores,urn_mavedb_00000068-c-1_scores,urn_mavedb_00001234-a-1_scores,urn_mavedb_00001234-c-1_scores,urn_mavedb_00001234-b-1_scores,urn_mavedb_00001234-f-1_scores,urn_mavedb_00000068-0-1_scores,urn_mavedb_00000068-a-1_scores
NM_000546.6(TP53):c.742C>T (p.Arg248Trp),TP53,121912651,RCV000013140|RCV000115735|RCV000213057|RCV000438698|RCV000168242|RCV000785485|RCV001255674|RCV003149569|RCV003318332|RCV001271100|RCV003460463|RCV001374442|RCV004745154|RCV005357116|RCV003105772|RCV003162243,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:CN221562|MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544|Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0005411,MedGen:C0153452||MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333|MONDO:MONDO:0004557,MedGen:C0334459|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659","Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|not provided|Neoplasm|Li-Fraumeni syndrome|Ovarian neoplasm|Lip and oral cavity carcinoma|Breast and/or ovarian cancer|Malignant lymphoma, large B-cell, diffuse|Choroid plexus carcinoma|Adrenocortical carcinoma, hereditary|Gallbladder cancer|TP53-related disorder|Familial pancreatic carcinoma|Congenital fibrosarcoma|Gastric cancer",GRCh38,NC_000017.11,17,7674221,7674221,na,na,12347,7674221,G,A,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg248Trp,False,248.0,248.0,R,R,W,NM_000546.6,1,2.338e-05,Pathogenic,-12.668829917907717,0.6139307358381629,0.0,0.4998410833584099,0.0,0.0,0.8990288513737605,0.0,0.999999999997938,0.0,-0.6892312463118315,0.0,0.7,0.0,0.0,0.9519600994919294,1.5527183163257938
NM_000546.6(TP53):c.772G>A (p.Glu258Lys),TP53,121912652,RCV000013141|RCV000161071|RCV000582699|RCV000792895|RCV000785291|RCV000772122,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome 1|not provided|not specified|Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674191,7674191,na,na,12348,7674191,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu258Lys,False,258.0,258.0,E,E,K,NM_000546.6,1,0.0,Pathogenic,-12.00710678100586,1.1121472362580442,5.4,0.4631616103475966,3.3,7.0,1.0311401052680709,5.4,1.0,5.4,-1.2868151726356554,0.5,8.2,8.4,0.7,1.235405516879576,1.3072541417450292
NM_000546.6(TP53):c.733G>T (p.Gly245Cys),TP53,28934575,RCV000013142|RCV000161025|RCV000492412|RCV000633397|RCV001271056|RCV004668714,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast and/or ovarian cancer|Neoplasm,GRCh38,NC_000017.11,17,7674230,7674230,na,na,12349,7674230,C,A,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly245Cys,False,245.0,245.0,G,G,C,NM_000546.6,1,0.0,Pathogenic,-12.64299201965332,0.5042743148355684,0.0,0.5786023388302612,0.0,0.0,0.9665909381425388,0.0,0.99999949649765,0.0,0.044244467810617,0.0,0.0,0.3,0.0,0.5592629112579176,1.2177588867488016
NM_000546.6(TP53):c.747G>T (p.Arg249Ser),TP53,28934571,RCV000013145|RCV000013146|RCV000464372|RCV000579519|RCV000785491|RCV001270276|RCV001562247|RCV004018617|RCV003996089|RCV005229780,"Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hepatocellular carcinoma|Cervical cancer|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Squamous cell carcinoma of the head and neck|not provided|Li-Fraumeni syndrome 1|Adrenal cortex carcinoma|Neoplasm,GRCh38,NC_000017.11,17,7674216,7674216,na,na,12352,7674216,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg249Ser,False,249.0,249.0,R,R,S,NM_000546.6,1,0.0,Pathogenic,-13.501361846923828,0.4363217179700836,8.7,0.5176553933660593,6.2,6.4,1.029039047938662,10.1,0.999999999995828,11.5,-0.31554938496148,20.5,17.0,26.2,4.8,0.9123482757740594,1.985173724390615
NM_000546.6(TP53):c.469G>T (p.Val157Phe),TP53,121912654,RCV000013147|RCV000566103|RCV000785500|RCV000794324|RCV001823095|RCV004668716|RCV003128570|RCV005229781,"Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137|MedGen:C3661900",Hepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm|Squamous cell carcinoma|not provided,GRCh38,NC_000017.11,17,7675143,7675143,na,na,12353,7675143,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val157Phe,False,157.0,157.0,V,V,F,NM_000546.6,1,0.0,Pathogenic,-11.977452278137209,0.2500114006287978,10.7,0.3088786671270265,7.0,6.5,0.9134012277219709,10.95,0.977074595528068,11.2,0.0137011711779045,14.9,15.6,17.5,3.4,0.304199076315277,0.6762869994949379
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr),TP53,121912655,RCV000013148|RCV000129809|RCV000231770|RCV000785282|RCV002288484|RCV002247332|RCV003314552,"MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900",Li-fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|Familial cancer of breast|not provided,GRCh38,NC_000017.11,17,7674238,7674238,na,na,12354,7674238,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys242Tyr,False,242.0,242.0,C,C,Y,NM_000546.6,1,0.0,Pathogenic,-12.679662704467772,0.4777125968095689,0.0,0.6262134985141201,0.0,0.0,0.8288823727116185,0.0,1.0,0.0,-0.9253613626505148,0.0,0.0,0.0,0.0,1.069641790917081,1.8058514132911592
NM_000546.6(TP53):c.734G>A (p.Gly245Asp),TP53,121912656,RCV000013149|RCV000164465|RCV000206683|RCV000785472|RCV000986053|RCV003473082,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|not provided|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7674229,7674229,na,na,12355,7674229,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly245Asp,False,245.0,245.0,G,G,D,NM_000546.6,1,0.0,Pathogenic,-11.173264503479004,-0.9560988922363572,3.3,0.4920053299102904,2.9,2.1,0.9580576178373756,3.05,0.973194194922308,2.6,0.3129815665587454,3.2,11.9,8.8,0.2,0.0142347031112684,1.311784568128908
NM_000546.6(TP53):c.743G>A (p.Arg248Gln),TP53,11540652,RCV000013150|RCV000115736|RCV000148913|RCV000197114|RCV000235221|RCV000426606|RCV000424869|RCV000763417|RCV000790860|RCV001255671|RCV001257519|RCV001270275|RCV001554245|RCV000785344|RCV001527465|RCV003996090|RCV003162244|RCV003332079|RCV003466852|RCV004745155|RCV004813032|RCV005016259|RCV004794335,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|11 conditions|Human Phenotype Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0030075,MONDO:MONDO:0005023,MedGen:C0007124|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501||MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|12 conditions|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145","Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Sarcoma|Li-Fraumeni syndrome|not provided|Neoplasm|Multiple myeloma|11 conditions|Lymphoma|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Familial cancer of breast|Breast carcinoma|Ovarian neoplasm|Ductal carcinoma in situ|Adrenal cortex carcinoma|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary|TP53-related disorder|Colorectal cancer|12 conditions|Hereditary breast ovarian cancer syndrome",GRCh38,NC_000017.11,17,7674220,7674220,na,na,12356,7674220,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg248Gln,False,248.0,248.0,R,R,Q,NM_000546.6,1,2.338e-05,Pathogenic,-13.222359657287598,0.2170534406347788,0.0,0.374640056216927,0.0,0.0,0.765774853941601,0.0,0.999999999982137,0.0,-0.9853848254821236,0.0,0.0,1.7,0.0,0.8119727120116585,1.2334798699180731
NM_000546.6(TP53):c.398T>C (p.Met133Thr),TP53,28934873,RCV000013151|RCV000492130|RCV001383051|RCV004786255,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7675214,7675214,na,na,12357,7675214,A,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met133Thr,False,133.0,133.0,M,M,T,NM_000546.6,1,0.0,Pathogenic,-6.996996402740479,0.7354274254544585,21.0,0.5034650326947647,16.4,17.2,1.0183218300206898,18.8,0.99999999667487,26.9,-0.6050996928053675,12.4,14.3,22.8,20.4,0.7422591407999968,0.8862503041401645
NM_000546.6(TP53):c.814G>T (p.Val272Leu),TP53,121912657,RCV000013152|RCV000164988|RCV001221969,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673806,7673806,na,na,12358,7673806,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val272Leu,False,272.0,272.0,V,V,L,NM_000546.6,1,0.0,Pathogenic,-9.02137279510498,0.5446148388933147,41.4,0.5510978878890032,22.2,14.6,0.4887802947114076,18.8,0.99999999999959,22.6,-0.8190950439009037,11.7,19.6,18.0,17.2,0.9270670826752784,1.417491365231616
NM_000546.6(TP53):c.722C>T (p.Ser241Phe),TP53,28934573,RCV000013154|RCV000013153|RCV000130168|RCV000559355|RCV000785290|RCV001255673|RCV003114189|RCV002288485|RCV002496336|RCV004668717,"MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Bone osteosarcoma|Hepatoblastoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Lip and oral cavity carcinoma|not provided|Li-Fraumeni syndrome 1|12 conditions|Neoplasm,GRCh38,NC_000017.11,17,7674241,7674241,na,na,12359,7674241,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser241Phe,False,241.0,241.0,S,S,F,NM_000546.6,1,0.0,Pathogenic,-14.117552757263184,1.2862568876582463,0.0,0.1917992933119336,0.0,0.0,1.047321278358522,0.0,0.999999999999998,0.8,-1.4628221977255411,0.0,0.3,0.0,0.0,1.2009556817527358,0.8537879598744196
NM_000546.6(TP53):c.844C>T (p.Arg282Trp),TP53,28934574,RCV000013161|RCV000210145|RCV000144670|RCV000148905|RCV000236400|RCV000441472|RCV000785546|RCV000722016|RCV001270278|RCV004668718|RCV004797589|RCV003315223|RCV004566738,"MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0033682,MONDO:MONDO:0016690,MedGen:C0334586,Orphanet:251607;MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0858939,MedGen:C5669918|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Li-fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not provided|Squamous cell carcinoma of the head and neck|Ovarian neoplasm|Pleomorphic xanthoastrocytoma;Astrocytoma, anaplastic|Colorectal cancer|Neoplasm|TP53-related disorder|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7673776,7673776,na,na,12364,7673776,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg282Trp,False,282.0,282.0,R,R,W,NM_000546.6,1,0.0,Pathogenic,-11.738731384277344,0.729156312773123,0.0,0.488827708342205,0.0,0.0,0.9123883671700296,0.0,0.999999999999696,0.0,-0.7571415765144042,0.9,0.5,0.0,0.0,1.0256669521946762,1.5907029672965016
NM_000546.6(TP53):c.733G>A (p.Gly245Ser),TP53,28934575,RCV000013162|RCV000148909|RCV000154014|RCV000144669|RCV000226657|RCV000588736|RCV000130147|RCV001270274|RCV001354825|RCV001642222|RCV000587017|RCV000785316|RCV002496337|RCV003162245|RCV003332080|RCV003460464|RCV003914832|RCV004797759,"MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0004970,MedGen:C0001418|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human Phenotype Ontology:HP:0034401,MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:99966|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501||","Li-fraumeni-like syndrome|Adenocarcinoma|not provided|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Astrocytoma, anaplastic|Hereditary cancer-predisposing syndrome|Colorectal cancer|Familial ovarian cancer|Breast carcinoma|Atypical teratoid rhabdoid tumor|Ovarian neoplasm|12 conditions|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary|TP53-related disorder|See cases",GRCh38,NC_000017.11,17,7674230,7674230,na,na,12365,7674230,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly245Ser,False,245.0,245.0,G,G,S,NM_000546.6,1,0.0,Pathogenic,-10.390735626220703,0.4582984179398647,0.0,0.4065178177773947,0.0,0.0,0.894797704451632,0.0,0.999999998667893,31.3,-0.7106395793803126,0.0,0.7,1.6,0.0,0.7717739581226732,1.1463838770478425
NM_000546.6(TP53):c.818G>A (p.Arg273His),TP53,28934576,RCV000013163|RCV000013164|RCV000115738|RCV000254693|RCV000431361|RCV000441169|RCV000785345|RCV000422097|RCV000463420|RCV001257517|RCV001527470|RCV003162246|RCV001358389|RCV001527484|RCV003466853|RCV003492292|RCV005003353|RCV004797590,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0011779,MONDO:MONDO:0006468,MeSH:D065646,MedGen:C0238461,Orphanet:142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443;MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:CN221562|12 conditions|","Li-Fraumeni syndrome 1|Thyroid gland undifferentiated (anaplastic) carcinoma|Hereditary cancer-predisposing syndrome|not provided|Lung adenocarcinoma|Neoplasm|Ovarian neoplasm|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Rhabdomyosarcoma|Multiple myeloma;Colorectal cancer|Gastric cancer|Malignant tumor of breast|Familial cancer of breast|Adrenocortical carcinoma, hereditary|Breast and/or ovarian cancer|12 conditions|TP53-related disorder",GRCh38,NC_000017.11,17,7673802,7673802,na,na,12366,7673802,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273His,False,273.0,273.0,R,R,H,NM_000546.6,1,7.024e-05,Pathogenic,-12.599373817443848,1.0778441621853183,0.0,0.4961139377030354,0.0,0.0,0.9164432858750472,0.0,1.0,16.0,-1.4383870935120846,1.7,2.4,0.0,0.0,1.2205773585887236,1.1455008200687682
NM_000546.6(TP53):c.839G>C (p.Arg280Thr),TP53,121912660,RCV000013167|RCV000198779|RCV000423074|RCV002433452|RCV003332081|RCV004018618,"MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:150|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Nasopharyngeal carcinoma|Li-Fraumeni syndrome|Acute myeloid leukemia|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673781,7673781,na,na,12368,7673781,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg280Thr,False,280.0,280.0,R,R,T,NM_000546.6,1,0.0,Pathogenic,-15.720911979675291,0.8508709906326501,0.0,0.5481445165797345,0.0,0.0,1.0791911765541833,0.0,1.0,0.0,-1.70601817013387,0.5,0.3,0.0,0.1,1.1519743946352834,0.89903402313933
NM_000546.6(TP53):c.451C>A (p.Pro151Thr),TP53,28934874,RCV000013168|RCV000130617|RCV000520731|RCV000691152|RCV001257524|RCV002288486|RCV004566739,"MONDO:MONDO:0004988,MedGen:C0858252|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Breast adenocarcinoma|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7675161,7675161,na,na,12369,7675161,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro151Thr,False,151.0,151.0,P,P,T,NM_000546.6,1,0.0,Pathogenic,-12.109021186828612,1.0068597483190924,19.4,0.109146253889488,14.3,13.0,0.9056758286533884,15.55,0.999999994121908,19.6,-0.9445178851985232,15.5,16.6,15.6,11.1,0.8798313750128247,0.6881164915208584
NM_000546.6(TP53):c.451C>T (p.Pro151Ser),TP53,28934874,RCV000013169|RCV000079203|RCV000219702|RCV001257523|RCV000633355|RCV002288487|RCV000785532,"MONDO:MONDO:0004988,MedGen:C0858252|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267",Breast adenocarcinoma|not provided|Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Ovarian neoplasm,GRCh38,NC_000017.11,17,7675161,7675161,na,na,12370,7675161,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro151Ser,False,151.0,151.0,P,P,S,NM_000546.6,1,0.0,Pathogenic,-11.507150650024414,0.8195049117651462,15.8,0.6089222970018251,8.8,0.0,1.0219351061769235,5.2,0.999999999999998,6.8,-0.9168274030343851,1.4,0.0,8.9,3.6,1.0809713155504883,1.5065816318519336
NM_000546.6(TP53):c.524G>A (p.Arg175His),TP53,28934578,RCV000013173|RCV000204931|RCV000239398|RCV000131301|RCV000213054|RCV000785352|RCV000421746|RCV001255668|RCV001270268|RCV001527463|RCV001270269|RCV003162247|RCV002476956|RCV003466854|RCV004797760,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|12 conditions|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|","Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Malignant tumor of esophagus|Hereditary cancer-predisposing syndrome|not provided|Ovarian neoplasm|Neoplasm|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Colorectal cancer|Gastric cancer|12 conditions|Adrenocortical carcinoma, hereditary|TP53-related disorder",GRCh38,NC_000017.11,17,7675088,7675088,na,na,12374,7675088,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg175His,False,175.0,175.0,R,R,H,NM_000546.6,1,0.0,Pathogenic,-10.123793601989746,0.5383957628403249,7.3,0.5960199258279557,2.6,10.5,0.9731065660280612,9.15,0.999999999999993,7.8,-0.7447654142127693,20.5,10.5,17.6,4.1,1.0248497613621204,1.791388107033267
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro),TP53,121912662,RCV000013174|RCV002390102|RCV000991141|RCV003473083|RCV003996091,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501","Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary|Adrenal cortex carcinoma",GRCh38,NC_000017.11,17,7670678,7670678,na,na,12375,7670678,A,G,1.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu344Pro,False,344.0,344.0,L,L,P,NM_000546.6,1,0.0,Pathogenic,-14.52585220336914,1.369314179714059,6.6,-0.5710387247729709,5.9,8.0,,9.25,0.999999999964782,10.5,-1.3980109892626147,17.1,15.6,21.8,6.0,0.6295137672218359,-0.8787838673111663
NM_000546.6(TP53):c.412G>C (p.Ala138Pro),TP53,28934875,RCV000013175|RCV000461233|RCV002326677|RCV004719641,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided,GRCh38,NC_000017.11,17,7675200,7675200,na,na,12376,7675200,C,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala138Pro,False,138.0,138.0,A,A,P,NM_000546.6,1,0.0,Pathogenic,-11.244596481323242,1.2951372174834648,6.9,0.499872508918068,7.1,8.2,1.010808258063607,8.05,1.0,7.9,-1.4719831691126264,18.0,14.1,20.8,4.6,1.2398590519590085,0.9524567692809348
NM_000546.6(TP53):c.1010G>A (p.Arg337His),TP53,121912664,RCV000013178|RCV000128923|RCV000413754|RCV000197240|RCV000481814|RCV000576817|RCV001375632|RCV000989700|RCV002307364|RCV002496338|RCV004797591|RCV003162248,"MedGen:C1859973|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|12 conditions||Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659","ADRENOCORTICAL CARCINOMA, PEDIATRIC|Hereditary cancer-predisposing syndrome|Breast neoplasm|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary|Squamous cell carcinoma of the head and neck|Hereditary breast ovarian cancer syndrome|12 conditions|TP53-related disorder|Gastric cancer",GRCh38,NC_000017.11,17,7670699,7670699,na,na,12379,7670699,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg337His,False,337.0,337.0,R,R,H,NM_000546.6,1,5.851e-05,Pathogenic,-5.446805953979492,-0.2132871017270856,75.0,-0.3791307394884631,55.3,78.3,,69.0,4.92777788240227e-05,96.9,0.2004023238163878,69.6,46.6,68.4,46.8,-0.4594656535425317,-0.9647075350841215
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser),TP53,121912666,RCV000013183|RCV000472593|RCV000785481|RCV003162249|RCV004719642,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|not provided,GRCh38,NC_000017.11,17,7674872,7674872,na,na,12383,7674872,T,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr220Ser,False,220.0,220.0,Y,Y,S,NM_000546.6,1,0.0,Pathogenic,-14.334030151367188,1.226370202063053,0.0,0.6215235289929026,1.1,0.0,0.5991594003019216,0.0,1.0,1.0,-1.4105793284103023,0.0,1.9,0.0,0.0,1.3276755169169197,1.3460770202774035
NM_000546.6(TP53):c.854A>T (p.Glu285Val),TP53,121912667,RCV000013185|RCV000013184|RCV000813961|RCV005229782,"Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MedGen:C1859973|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Choroid plexus carcinoma|ADRENOCORTICAL CARCINOMA, PEDIATRIC|Li-Fraumeni syndrome|Neoplasm",GRCh38,NC_000017.11,17,7673766,7673766,na,na,12384,7673766,T,A,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu285Val,False,285.0,285.0,E,E,V,NM_000546.6,1,0.0,Pathogenic,-11.771636962890623,0.6322688663390745,12.9,0.0363866100259031,6.8,8.7,0.6091291300808345,8.85,0.999999999999994,9.0,-1.2353344346629815,1.8,18.6,24.8,8.2,1.192980237357011,1.7113374110689767
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp),TP53,397516434,RCV000036529|RCV000492626|RCV000255021|RCV000468537|RCV003315555,"MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not specified|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670669,7670669,na,na,43587,7670669,G,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala347Asp,False,347.0,347.0,A,A,D,NM_000546.6,1,0.0,Pathogenic,-11.266225814819336,-0.5315845395995603,21.3,-0.4390787761688695,9.8,8.1,,16.55,1.03137523715944e-06,78.9,0.5135673118473688,17.0,16.1,22.7,13.7,-0.6460893283979786,-0.8931161337470069
NM_000546.6(TP53):c.817C>T (p.Arg273Cys),TP53,121913343,RCV000144665|RCV000149051|RCV000205625|RCV000131966|RCV000254692|RCV000431786|RCV000785470|RCV003466889|RCV004595896|RCV004745172,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|","Li-Fraumeni syndrome 1|Malignant tumor of prostate|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Neoplasm|Ovarian neoplasm|Adrenocortical carcinoma, hereditary|Multiple myeloma|TP53-related disorder",GRCh38,NC_000017.11,17,7673803,7673803,na,na,43594,7673803,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273Cys,False,273.0,273.0,R,R,C,NM_000546.6,1,0.0,Pathogenic,-11.346963882446287,0.3143042398059623,0.0,0.531982628475814,0.0,0.3,0.9656547538824958,0.35,0.999999999998891,1.2,-0.9303982219537827,1.5,2.7,0.0,0.4,0.8353499051657604,1.261347253737536
NM_000546.6(TP53):c.1093C>T (p.His365Tyr),TP53,267605075,RCV000129635|RCV000701624|RCV001127281|RCV001358057|RCV003894916,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0007254,MedGen:C0006142|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Malignant tumor of breast|TP53-related disorder,GRCh38,NC_000017.11,17,7670616,7670616,na,na,80708,7670616,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His365Tyr,False,365.0,365.0,H,H,Y,NM_000546.6,1,0.0,Benign,-4.687289237976074,-0.2015731805828493,105.4,-0.0656927275467524,62.3,76.5,,77.8,8.28782324288697e-06,84.1,0.5999727017368807,78.0,77.6,85.2,68.8,-0.3891334653223833,-0.36585451364742
NM_000546.6(TP53):c.736A>G (p.Met246Val),TP53,483352695,RCV000087173|RCV000161036|RCV000460370|RCV000785556|RCV002288585,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674227,7674227,na,na,100815,7674227,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met246Val,False,246.0,246.0,M,M,V,NM_000546.6,1,0.0,Pathogenic,-9.417624473571776,0.8046445442521113,0.0,0.216625367222832,0.0,0.0,0.8244067236227933,0.0,0.999999999080479,56.1,-0.5698985347335623,0.0,1.4,0.0,0.0,0.9760992106783148,1.5537545530492702
NM_000546.6(TP53):c.28G>A (p.Val10Ile),TP53,535274413,RCV000115717|RCV000235217|RCV000203717|RCV000989729|RCV000781916|RCV000662410|RCV003905099,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|not specified|Li-Fraumeni syndrome 1|TP53-related disorder,GRCh38,NC_000017.11,17,7676567,7676567,na,na,127806,7676567,C,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val10Ile,False,10.0,10.0,V,V,I,NM_000546.6,1,0.0002,Benign,-4.733226299285889,-0.7794272840547934,144.8,0.0476130097761218,82.6,103.6,,134.1,2.69493094931644e-06,169.5,0.4948352940594098,123.6,151.2,144.6,84.1,-0.4646284493867251,-0.1196227700459723
NM_000546.6(TP53):c.329G>A (p.Arg110His),TP53,11540654,RCV000115719|RCV000122182|RCV000228299|RCV000589869|RCV000409407|RCV001358219|RCV004745188,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0007254,MedGen:C0006142|",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Malignant tumor of breast|TP53-related disorder,GRCh38,NC_000017.11,17,7676040,7676040,na,na,127808,7676040,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg110His,False,110.0,110.0,R,R,H,NM_000546.6,1,0.0002,Benign,-7.095228672027588,-0.2454386934157588,142.6,0.026741227234317,79.9,54.4,,55.0,0.0001217462452316,112.6,0.5132179059395482,55.6,53.0,23.5,50.7,-0.1857889036702956,0.20128988834442
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys),TP53,148924904,RCV000115725|RCV000492788|RCV000526324|RCV000785334|RCV004019613,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675124,7675124,na,na,127814,7675124,T,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr163Cys,False,163.0,163.0,Y,Y,C,NM_000546.6,1,0.0,Pathogenic,-10.485990524291992,1.2825710069349747,5.8,0.9337231830771642,4.0,3.9,1.007906495649435,5.6,1.0,5.4,-1.0024551183072885,30.2,12.6,17.5,2.2,1.3414810461754454,1.7394170132840727
NM_000546.6(TP53):c.535C>T (p.His179Tyr),TP53,587780070,RCV000115726|RCV000555493|RCV000663095|RCV000785312|RCV002288597|RCV003460828|RCV004668781,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Neoplasm",GRCh38,NC_000017.11,17,7675077,7675077,na,na,127815,7675077,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His179Tyr,False,179.0,179.0,H,H,Y,NM_000546.6,1,0.0,Pathogenic,-11.574714660644531,0.9767385032576048,56.5,0.5750517813262395,24.4,13.2,1.0288695698063164,21.95,0.999999999999376,51.0,-0.375754242717548,21.9,17.6,18.5,22.0,1.0482243849135102,1.7921804087653777
NM_000546.6(TP53):c.572C>G (p.Pro191Arg),TP53,587778718,RCV000122174|RCV000205751|RCV000219468|RCV000766937|RCV000662561,"MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not specified|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674959,7674959,na,na,127816,7674959,G,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro191Arg,False,191.0,191.0,P,P,R,NM_000546.6,1,0.0001,Benign,-12.079056739807127,-0.1102821704898946,119.9,-0.0887169554484319,86.1,103.0,-0.8060799509605943,101.7,5.96046537697507e-05,119.1,0.5205413026867154,100.4,104.7,78.8,77.8,-0.1832347209241325,0.0811193104042123
NM_000546.6(TP53):c.580C>T (p.Leu194Phe),TP53,587780071,RCV002288599|RCV000115728|RCV002288598|RCV003997297|RCV005229909|RCV001377420,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Adrenal cortex carcinoma|Neoplasm|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674951,7674951,na,na,127817,7674951,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu194Phe,False,194.0,194.0,L,L,F,NM_000546.6,1,0.0,Pathogenic,-11.046798706054688,0.6722395765405029,5.9,0.2168274089551856,7.4,9.7,0.9231800166322692,11.95,0.999999999999604,79.7,-1.3053155287069766,23.7,14.2,23.6,3.8,0.9707223829209246,0.9346120435152944
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys),TP53,121912666,RCV000115731|RCV000213055|RCV000232050|RCV000433936|RCV001310212|RCV001579295|RCV000785544|RCV003460829|RCV003162539|RCV003407499|RCV001527468|RCV003997298|RCV004668782|RCV002490776,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659||Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|12 conditions","Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Breast carcinoma|Ovarian neoplasm|Adrenocortical carcinoma, hereditary|Gastric cancer|TP53-related disorder|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Neoplasm|12 conditions",GRCh38,NC_000017.11,17,7674872,7674872,na,na,127819,7674872,T,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr220Cys,False,220.0,220.0,Y,Y,C,NM_000546.6,1,2.339e-05,Pathogenic,-10.054505348205566,0.6339840875061972,0.2,0.444997241782499,1.4,0.0,0.8681144298304821,2.25,0.999999999999998,5.1,-1.1463242807029397,2.0,2.5,8.6,3.0,1.102230587606108,1.5263833946091867
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys),TP53,587780073,RCV000115732|RCV000200601|RCV000492245|RCV000785536|RCV001808343|RCV005229910,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7674262,7674262,na,na,127820,7674262,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr234Cys,False,234.0,234.0,Y,Y,C,NM_000546.6,1,0.0,Pathogenic,-10.44083309173584,0.9765200203964278,10.8,0.665703675336119,10.3,9.8,0.896695445485732,10.55,1.0,14.8,-1.0911439780808974,3.5,14.5,0.5,14.1,1.178992427402707,1.4693132837307958
NM_000546.6(TP53):c.704A>G (p.Asn235Ser),TP53,144340710,RCV000115733|RCV000122177|RCV000148915|RCV000590586|RCV000663295|RCV000989714|RCV000991139|RCV001798339|RCV003952552,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562|",Hereditary cancer-predisposing syndrome|not specified|Rhabdomyosarcoma|not provided|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Breast and/or ovarian cancer|TP53-related disorder,GRCh38,NC_000017.11,17,7674259,7674259,na,na,127821,7674259,T,C,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn235Ser,False,235.0,235.0,N,N,S,NM_000546.6,1,0.0004,Benign,-10.620455741882324,-0.0967101033071752,182.7,0.0676702588757012,131.6,125.7,-0.96278572313764,123.2,0.0013827231468118,112.2,0.2976658520358771,120.7,128.2,58.4,101.5,-0.0751559306482033,0.1689081633984424
NM_000546.6(TP53):c.847C>T (p.Arg283Cys),TP53,149633775,RCV000115739|RCV000122178|RCV000148912|RCV000200641|RCV000238755|RCV000585912|RCV001357872|RCV004776274|RCV002477279,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0100342,MedGen:C0555198|12 conditions",Hereditary cancer-predisposing syndrome|not specified|Neoplasm of stomach|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Malignant tumor of breast|Malignant glioma|12 conditions,GRCh38,NC_000017.11,17,7673773,7673773,na,na,127824,7673773,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg283Cys,False,283.0,283.0,R,R,C,NM_000546.6,1,0.0001,Benign,-11.74323844909668,-0.542843775809936,121.3,-0.1466270479213502,88.7,117.8,-0.0397068961526185,99.2,4.23789124479783e-06,152.8,0.4327137127708793,41.7,51.9,0.0,109.7,-0.3530148439636303,-0.0834870433100757
NM_000546.6(TP53):c.869G>A (p.Arg290His),TP53,55819519,RCV000115740|RCV000148914|RCV000213061|RCV000620742|RCV000760102|RCV001798340|RCV001357075|RCV003935102,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not specified|Li-Fraumeni syndrome 1|not provided|Breast and/or ovarian cancer|Familial ovarian cancer|TP53-related disorder,GRCh38,NC_000017.11,17,7673751,7673751,na,na,127825,7673751,C,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg290His,False,290.0,290.0,R,R,H,NM_000546.6,1,0.0003,Benign,-8.73292064666748,-0.3446549658538213,158.0,0.2274409868269611,75.0,170.9,-0.8009836936323882,140.9,0.0072485211941607,268.4,0.3736592264728354,111.1,149.0,132.8,104.2,-0.0817267048247933,0.4731340778522766
NM_000546.6(TP53):c.877G>T (p.Gly293Trp),TP53,587780076,RCV000115741|RCV000462367|RCV000213062|RCV000410614|RCV004767077|RCV005359090,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|not specified|Li-Fraumeni syndrome 1;Familial cancer of breast,GRCh38,NC_000017.11,17,7673743,7673743,na,na,127826,7673743,C,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly293Trp,False,293.0,293.0,G,G,W,NM_000546.6,1,2.338e-05,Benign,-10.096933364868164,-0.5871084745940629,104.3,-0.0154649980920178,78.4,117.3,-0.6199987345837739,112.5,8.93475175974259e-06,170.4,0.5177076065641775,107.7,144.6,147.2,64.2,-0.3321847216211507,0.1082619162947881
NM_000546.6(TP53):c.886C>T (p.His296Tyr),TP53,672601296,RCV000119375|RCV000633378|RCV000486480|RCV005089588|RCV000774785|RCV003987365,"Human Phenotype Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374",Sarcoma|Li-Fraumeni syndrome|not provided|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|not specified,GRCh38,NC_000017.11,17,7673734,7673734,na,na,132973,7673734,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His296Tyr,False,296.0,296.0,H,H,Y,NM_000546.6,1,0.0,Benign,-5.61531925201416,-0.0089421911507525,145.8,0.1690160405755072,146.5,137.4,-0.8362164633531475,146.15,0.0103376391500417,179.7,0.3367068444086668,149.9,171.7,134.0,80.7,-0.0083636531016783,0.3205580762543842
NM_000546.6(TP53):c.638G>A (p.Arg213Gln),TP53,587778720,RCV000123099|RCV000122176|RCV000130072|RCV000144664|RCV000420734|RCV000626448|RCV001255672|RCV004745203|RCV001798386|RCV003460862,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN322715|MONDO:MONDO:0023644,MedGen:C0220641||MedGen:CN221562|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Li-Fraumeni syndrome|not specified|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|not provided|Poly (ADP-Ribose) polymerase inhibitor response|Lip and oral cavity carcinoma|TP53-related disorder|Breast and/or ovarian cancer|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7674893,7674893,na,na,135359,7674893,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg213Gln,False,213.0,213.0,R,R,Q,NM_000546.6,1,0.0,Pathogenic,-11.114912986755373,0.4469857733465194,0.0,0.3964422630716067,0.0,0.0,0.8044594357867735,0.0,0.999999980019177,0.0,-0.6357156811634949,3.6,1.2,0.0,0.0,0.6998768035927466,1.0169289562682255
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala),TP53,17881470,RCV000122179|RCV000161039|RCV000989697|RCV000991137|RCV001356420|RCV001798387|RCV001704037|RCV003965030,"MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562|MedGen:C3661900|",not specified|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|not provided|TP53-related disorder,GRCh38,NC_000017.11,17,7670613,7670613,na,na,135360,7670613,A,C,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser366Ala,False,366.0,366.0,S,S,A,NM_000546.6,1,0.0002,Benign,-4.3267669677734375,-1.4405290776253978,88.0,-0.1794213521931111,73.1,83.6,,81.65,1.3012873929153e-09,55.6,1.0262968120513658,84.4,105.9,79.7,63.0,-1.1570985566381404,-1.004469780237658
NM_000546.6(TP53):c.145G>C (p.Asp49His),TP53,587780728,RCV000129275|RCV000123095|RCV000410497|RCV001030740|RCV001192616,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary breast ovarian cancer syndrome|not specified,GRCh38,NC_000017.11,17,7676224,7676224,na,na,135948,7676224,C,G,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp49His,False,49.0,49.0,D,D,H,NM_000546.6,1,0.0001,Benign,-5.786992073059082,0.5700808037741351,18.1,0.2316542065930438,10.6,19.1,,18.6,0.0079520255056554,15.1,0.5923241132020417,24.5,23.3,30.9,9.7,-0.1229108033956671,-0.3464891007590945
NM_000546.6(TP53):c.21T>A (p.Asp7Glu),TP53,587781277,RCV000128929|RCV000200997|RCV000802467|RCV001800422,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7676574,7676574,na,na,140782,7676574,A,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp7Glu,False,7.0,7.0,D,D,E,NM_000546.6,1,0.0,Benign,-2.7639331817626958,-0.8197619122877338,111.9,-0.0137551717828483,65.0,89.2,,90.6,1.60473922186588e-06,121.9,0.4373529943117314,85.9,116.5,92.0,74.1,-0.4711029297916578,-0.1561938827755082
NM_000546.5(TP53):c.319T>C (p.Tyr107His),TP53,368771578,RCV000128936|RCV000235219|RCV000411273|RCV000588191|RCV002498638|RCV000991146|RCV005359193|RCV003492581|RCV003917413,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|12 conditions|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333;MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN221562|",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome 1|not provided|12 conditions|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1;Familial pancreatic carcinoma;Familial cancer of breast|Breast and/or ovarian cancer|TP53-related disorder,GRCh38,NC_000017.11,17,7676050,7676050,na,na,140786,7676050,A,G,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr107His,False,107.0,107.0,Y,Y,H,NM_000546.5,1,0.0004,Benign,-2.827291965484619,-0.1096734594805541,132.6,-0.0447748848498867,75.9,64.8,,64.94999999999999,7.39959942629257e-05,107.0,0.5453693063685265,65.1,58.6,35.0,61.6,-0.1862503608268776,0.0962916833684479
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr),TP53,587781288,RCV000128975|RCV000472876|RCV000785510|RCV001582600|RCV002288619|RCV004668787,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|not provided|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7675190,7675190,na,na,140801,7675190,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys141Tyr,False,141.0,141.0,C,C,Y,NM_000546.6,1,0.0,Pathogenic,-10.387815475463867,0.7821467358130811,6.8,0.6272666923378016,5.6,7.3,0.9733111886014668,8.05,0.999999999999993,8.8,-0.7189085333807632,16.2,12.5,19.4,4.2,1.062308774368421,1.6858710539114188
NM_000546.6(TP53):c.844C>G (p.Arg282Gly),TP53,28934574,RCV000129010|RCV000785299|RCV002288620|RCV004719707|RCV001380073,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|not provided|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673776,7673776,na,na,140821,7673776,G,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg282Gly,False,282.0,282.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-11.072214126586914,1.1696749316276385,0.0,0.655201744310568,0.0,0.0,0.9933526544084024,0.0,1.0,0.0,-1.1700823577405843,0.7,0.9,0.0,0.0,1.3528157975314514,1.7186901032261317
NM_000546.6(TP53):c.250G>A (p.Ala84Thr),TP53,587781307,RCV000129026|RCV000462026|RCV000409852|RCV004998253,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not specified,GRCh38,NC_000017.11,17,7676119,7676119,na,na,140833,7676119,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala84Thr,False,84.0,84.0,A,A,T,NM_000546.6,1,5.845e-05,Benign,-5.79074764251709,-0.6904528313008667,153.3,-0.0047741635541682,46.1,84.4,,75.45,1.51798563949236e-06,107.5,0.5833073102648064,88.1,64.3,43.5,66.5,-0.4821539932697234,-0.1727018382434975
NM_000546.6(TP53):c.144C>A (p.Asp48Glu),TP53,587781460,RCV000129395|RCV000813083,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676225,7676225,na,na,141056,7676225,G,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp48Glu,False,48.0,48.0,D,D,E,NM_000546.6,1,0.0,Benign,-2.518721580505371,-0.2630916896787733,129.6,-0.0924085149090294,100.6,108.2,,103.2,3.80266813863107e-06,103.6,0.7852859227150175,102.8,104.9,84.3,76.5,-0.4068473366478922,-0.1721643975498859
NM_000546.6(TP53):c.364G>A (p.Val122Met),TP53,587781495,RCV000129460|RCV000206482|RCV000581285,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not specified,GRCh38,NC_000017.11,17,7676005,7676005,na,na,141101,7676005,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val122Met,False,122.0,122.0,V,V,M,NM_000546.6,1,0.0,Benign,-9.509458541870115,0.1161507703539726,42.1,0.1629980941939142,19.2,42.8,,36.1,0.0565122186730762,67.7,0.5767856309875588,28.8,12.5,30.1,51.0,0.0947728856571455,0.7449535176050226
NM_000546.6(TP53):c.935C>G (p.Thr312Ser),TP53,145151284,RCV000129462|RCV000204899|RCV000213063|RCV000411116|RCV001260345|RCV003935214,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|not specified|TP53-related disorder,GRCh38,NC_000017.11,17,7673593,7673593,na,na,141102,7673593,G,C,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr312Ser,False,312.0,312.0,T,T,S,NM_000546.6,1,0.0003,Benign,-2.533407211303711,-0.3223438812177477,165.6,-0.2521614155424077,116.2,129.4,,126.45,1.19727754639153e-06,148.3,0.6642995030018071,123.5,136.3,105.3,83.1,-0.547372056942067,-0.6554727866066463
NM_000546.6(TP53):c.842A>G (p.Asp281Gly),TP53,587781525,RCV000129516|RCV000633367|RCV002288626|RCV003237737,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided,GRCh38,NC_000017.11,17,7673778,7673778,na,na,141141,7673778,T,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Gly,False,281.0,281.0,D,D,G,NM_000546.6,1,0.0,Pathogenic,-13.423011779785156,0.6402403191698621,10.2,0.4038356673652563,7.8,5.8,1.072190084887881,9.0,0.999999999712135,7.0,-1.0103842744479925,19.9,13.5,17.4,4.2,0.7233349391387597,0.5193802237984246
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys),TP53,375444154,RCV000129547|RCV000213066|RCV000538993|RCV004567087,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7670706,7670706,na,na,141159,7670706,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg335Cys,False,335.0,335.0,R,R,C,NM_000546.6,1,0.0,Benign,-8.998559951782227,-0.3641987538545403,139.5,-0.16433677485908,93.0,137.7,,107.15,3.10457889939602e-06,114.1,0.4900272949133741,99.9,100.2,153.5,79.9,-0.5631186979547625,-0.835130045096373
NM_000546.6(TP53):c.695T>C (p.Ile232Thr),TP53,587781589,RCV000129637|RCV000582737|RCV002510789|RCV005089636,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not specified|not provided|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674268,7674268,na,na,141224,7674268,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile232Thr,False,232.0,232.0,I,I,T,NM_000546.6,1,0.0,Pathogenic,-11.197349548339844,0.8184130516108348,4.8,0.4324059727672349,4.4,3.9,0.726704680924929,4.6,0.999999999999379,10.1,-0.9528867291546668,3.2,11.4,0.0,4.8,1.0087048574121709,1.254814791471011
NM_000546.6(TP53):c.554G>A (p.Ser185Asn),TP53,150607408,RCV000129849|RCV000233843|RCV000662659|RCV001552973|RCV003321512,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|not specified,GRCh38,NC_000017.11,17,7675058,7675058,na,na,141359,7675058,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser185Asn,False,185.0,185.0,S,S,N,NM_000546.6,1,0.0001,Benign,-6.482740879058838,-0.2930362429256877,148.0,0.0147677874938294,88.8,93.0,-1.274728266208995,98.6,0.0008093920727203,104.2,0.2108665338399025,110.4,106.1,80.0,78.4,-0.0921252514761674,0.227527022337088
NM_000546.6(TP53):c.1163A>C (p.Glu388Ala),TP53,587781736,RCV000129934|RCV000236435|RCV000226900,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7669628,7669628,na,na,141425,7669628,T,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu388Ala,False,388.0,388.0,E,E,A,NM_000546.6,1,0.0,Benign,-7.0834150314331055,-2.2979961629363648,172.4,-0.3164007259166481,90.4,104.1,,100.1,4.56228625134583e-12,158.6,1.2389381023730688,105.5,86.6,96.1,83.9,-1.261632957543283,-0.2479646073204151
NM_000546.6(TP53):c.892G>A (p.Glu298Lys),TP53,201744589,RCV000130033|RCV000206802|RCV000411322|RCV001355706|RCV000986055|RCV003993819|RCV001355227,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Carcinoma of colon|not provided|not specified|Malignant tumor of breast,GRCh38,NC_000017.11,17,7673728,7673728,na,na,141483,7673728,C,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu298Lys,False,298.0,298.0,E,E,K,NM_000546.6,1,0.0001,Benign,-3.6600770950317374,-0.1599948221756609,107.0,0.0799148497905493,92.0,110.8,-0.5153639106969969,118.5,0.0040753843424166,161.6,0.3599616167622454,132.4,139.2,126.2,78.7,-0.0067161846951853,0.4998078848523504
NM_000546.6(TP53):c.221C>T (p.Ala74Val),TP53,587781832,RCV000130119|RCV000487230|RCV003493453|RCV000816275,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|not specified|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676148,7676148,na,na,141547,7676148,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala74Val,False,74.0,74.0,A,A,V,NM_000546.6,1,0.0,Benign,-6.029266357421875,-1.6795802397126218,119.3,-0.4659605494589416,46.5,111.6,,82.80000000000001,7.70868306102936e-10,93.9,0.7004637167525053,115.5,69.1,71.7,65.3,-0.8649554747152607,-0.214822467680655
NM_000546.6(TP53):c.107C>A (p.Pro36Gln),TP53,587781866,RCV000130183|RCV000213046|RCV000469733|RCV000662689|RCV005237565,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not specified,GRCh38,NC_000017.11,17,7676262,7676262,na,na,141597,7676262,G,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro36Gln,False,36.0,36.0,P,P,Q,NM_000546.6,1,0.0,Benign,-4.3851637840271,-0.3046330816785814,118.3,-0.0240889294754071,61.6,67.6,,79.35,7.51061118094676e-06,90.4,0.6505581391500207,125.3,83.7,75.0,58.3,-0.3810442305092221,-0.187941470699064
NM_000546.6(TP53):c.799C>T (p.Arg267Trp),TP53,55832599,RCV000130398|RCV000413074|RCV000763416|RCV000538977|RCV002247507|RCV003460927|RCV001255676|RCV002288637|RCV003149899|RCV004797597|RCV005359236,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|11 conditions|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN221562||Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535","Hereditary cancer-predisposing syndrome|not provided|11 conditions|Li-Fraumeni syndrome|Familial cancer of breast|Adrenocortical carcinoma, hereditary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Breast and/or ovarian cancer|TP53-related disorder|Li-Fraumeni syndrome 1;Familial cancer of breast",GRCh38,NC_000017.11,17,7673821,7673821,na,na,141764,7673821,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg267Trp,False,267.0,267.0,R,R,W,NM_000546.6,1,0.0,Pathogenic,-11.237274169921877,-0.2799421633722109,1.6,0.176398763532168,0.0,0.0,0.7439749552563861,1.0,0.805393177426284,84.2,0.0708454631931977,2.8,0.4,0.0,38.1,0.2265245802449551,1.0303613673002745
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln),TP53,17882252,RCV000130594|RCV000213068|RCV000697643|RCV005359240,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1;Familial cancer of breast,GRCh38,NC_000017.11,17,7670694,7670694,na,na,141893,7670694,C,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu339Gln,False,339.0,339.0,E,E,Q,NM_000546.6,1,6.384e-05,Benign,-8.304028511047363,-0.7313020850912613,144.9,-0.3433283589825315,89.9,149.4,,109.9,1.53461919750227e-07,109.9,0.9362372284229392,109.9,103.4,172.2,90.2,-0.9860967705436272,-1.2907509981166807
NM_000546.6(TP53):c.473G>A (p.Arg158His),TP53,587782144,RCV000130708|RCV000227859|RCV000255654|RCV003492603|RCV001257522|RCV004797598|RCV000496787|RCV004796030|RCV003461996,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MedGen:CN221562|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780||Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Breast and/or ovarian cancer|Rhabdomyosarcoma|TP53-related disorder|Li-Fraumeni syndrome 1|12 conditions|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7675139,7675139,na,na,141963,7675139,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg158His,False,158.0,158.0,R,R,H,NM_000546.6,1,0.0,Pathogenic,-10.056973457336426,0.2026048180305354,55.1,0.3152910159789557,20.3,14.6,0.8818710497609661,19.35,0.999952442449926,48.2,-0.3599730674941448,14.5,18.4,17.6,25.5,0.4890075294103783,0.9044447027064548
NM_000546.6(TP53):c.391A>T (p.Asn131Tyr),TP53,587782160,RCV000130751,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675221,7675221,na,na,141988,7675221,T,A,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn131Tyr,False,131.0,131.0,N,N,Y,NM_000546.6,1,0.0,Pathogenic,-12.831809043884276,0.7230249905842155,5.0,-0.0016206434187417,6.2,10.5,1.0067426622940678,8.85,0.999999999972538,7.2,-0.8596182493316727,18.4,10.8,17.7,6.7,1.078583036897912,1.6531058707778477
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala),TP53,35993958,RCV000130776|RCV000254695|RCV000586942|RCV000663262|RCV000991145|RCV003149902|RCV002225434|RCV005359244,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535",Hereditary cancer-predisposing syndrome|not specified|not provided|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 1;Familial cancer of breast,GRCh38,NC_000017.11,17,7670630,7670630,na,na,142003,7670630,C,G,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly360Ala,False,360.0,360.0,G,G,A,NM_000546.6,1,0.0004,Benign,-3.638601303100586,-0.4060351586682181,105.9,-0.3561826167256841,76.1,61.7,,74.94999999999999,7.55531702708279e-07,92.2,0.8826836329363216,85.4,70.6,73.8,58.6,-0.8263460698094874,-1.1903194178239225
NM_000546.6(TP53):c.998G>A (p.Arg333His),TP53,573154688,RCV000131296|RCV000213064|RCV000227465|RCV000662455|RCV003493457|RCV003422025|RCV005359257,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374||MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535;Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not specified|TP53-related disorder|Familial cancer of breast;Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670711,7670711,na,na,142273,7670711,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg333His,False,333.0,333.0,R,R,H,NM_000546.6,1,0.0003,Benign,-8.647520065307617,-0.8284489600280619,177.0,-0.2716211656413041,86.8,109.8,,108.0,5.14619705760519e-08,106.2,0.7731298307191221,83.8,110.8,128.1,83.0,-0.7116624781960983,-0.5334086438411111
NM_000546.6(TP53):c.542G>A (p.Arg181His),TP53,397514495,RCV000168247|RCV000131382|RCV000255239|RCV000576528|RCV001391195|RCV000989718|RCV001527471|RCV005089647|RCV003462011|RCV004745211,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,Orphanet:1333,Orphanet:217074|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|","Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Carcinoma of pancreas|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Adrenocortical carcinoma, hereditary|TP53-related disorder",GRCh38,NC_000017.11,17,7675070,7675070,na,na,142320,7675070,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg181His,False,181.0,181.0,R,R,H,NM_000546.6,1,0.0,Pathogenic,-6.242097854614258,-0.2482866435568628,85.0,0.2451639738967572,35.0,10.5,0.5817090738727203,42.15,0.311739620359257,125.0,0.3318245460787309,56.3,18.5,22.8,49.3,0.1083246457143264,0.905085126778573
NM_000546.6(TP53):c.907A>G (p.Ser303Gly),TP53,587782391,RCV000131400|RCV000549010|RCV000760105,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7673713,7673713,na,na,142332,7673713,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser303Gly,False,303.0,303.0,S,S,G,NM_000546.6,1,0.0,Benign,-4.388994693756104,-0.1759165013826733,143.0,-0.0598655567852135,111.6,112.4,-1.1281026714274347,140.1,7.8628037161762e-05,184.4,0.3449578621270391,137.2,164.9,197.2,121.8,-0.2130858565535981,-0.1183832061510821
NM_000546.6(TP53):c.217G>A (p.Val73Met),TP53,587782423,RCV000131474|RCV000553568|RCV000986048|RCV001192621|RCV005359269,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145;MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524;MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|not specified|Hereditary breast ovarian cancer syndrome;Li-Fraumeni syndrome;Familial pancreatic carcinoma,GRCh38,NC_000017.11,17,7676152,7676152,na,na,142386,7676152,C,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val73Met,False,73.0,73.0,V,V,M,NM_000546.6,1,4.678e-05,Benign,-5.412494659423828,-0.4997698461970788,131.0,-0.0075435457322985,46.7,103.1,,92.4,6.38947143103651e-06,110.5,0.6620703291554453,120.5,81.1,81.7,75.8,-0.3664692513682795,0.0624324212476854
NM_000546.6(TP53):c.322G>A (p.Gly108Ser),TP53,587782461,RCV000131548|RCV000458425|RCV001030738|RCV003467176|RCV000679368|RCV005406839,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:C3661900|MedGen:CN169374","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome|Adrenocortical carcinoma, hereditary|not provided|not specified",GRCh38,NC_000017.11,17,7676047,7676047,na,na,142431,7676047,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly108Ser,False,108.0,108.0,G,G,S,NM_000546.6,1,0.0,Benign,-9.38695240020752,-0.3527253218338274,95.0,0.0223690785338486,55.6,50.8,,46.55,0.0003127028781898,98.2,0.4267623090132041,23.6,27.2,16.7,42.3,-0.1254072125074548,0.403265993324667
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys),TP53,587782529,RCV000131726|RCV000475086|RCV000785479|RCV001310211|RCV001781474|RCV004668798|RCV003467184,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|not provided|Neoplasm|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7670700,7670700,na,na,142536,7670700,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg337Cys,False,337.0,337.0,R,R,C,NM_000546.6,1,0.0,Pathogenic,-8.3834810256958,0.7764214087430954,8.9,-0.511126477023544,12.8,15.6,,15.15,0.999999658689,26.2,-1.1093349970160922,19.6,14.7,32.2,7.9,0.3002728661862063,-0.9849378072005684
NM_000546.6(TP53):c.105G>C (p.Leu35Phe),TP53,121912661,RCV000131759|RCV000633325|RCV000481187|RCV001002101,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|not specified,GRCh38,NC_000017.11,17,7676264,7676264,na,na,142562,7676264,C,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu35Phe,False,35.0,35.0,L,L,F,NM_000546.6,1,0.0,Benign,-4.229403495788574,-0.6886207566097055,153.8,0.1064208587562021,86.4,84.9,,100.45,9.43808718907131e-06,137.6,0.542012719205048,118.1,104.2,96.7,73.6,-0.4087155623805082,0.0044867886732286
NM_000546.6(TP53):c.427G>A (p.Val143Met),TP53,587782620,RCV000132003|RCV000227179|RCV000409072|RCV001354661|RCV000413546|RCV005025218|RCV001560552|RCV003474783,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0007254,MedGen:C0006142|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|12 conditions|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Malignant tumor of breast|Breast neoplasm|12 conditions|not provided|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7675185,7675185,na,na,142657,7675185,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val143Met,False,143.0,143.0,V,V,M,NM_000546.6,1,0.0,Pathogenic,-9.865750312805176,0.9291347231745404,5.8,0.4807740742134772,5.1,6.9,0.938710800471556,7.5,0.9999999999996,8.1,-0.9702864795284608,17.0,10.5,21.9,2.9,1.0052921168526987,1.116455147855095
NM_000546.6(TP53):c.711G>A (p.Met237Ile),TP53,587782664,RCV000132084|RCV000464261|RCV000581940|RCV000785336|RCV001271055|RCV001527088|RCV001567943|RCV003462031|RCV004668799,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:CN221562|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not specified|Ovarian neoplasm|Breast and/or ovarian cancer|Li-Fraumeni syndrome 1|not provided|Adrenocortical carcinoma, hereditary|Neoplasm",GRCh38,NC_000017.11,17,7674252,7674252,na,na,142714,7674252,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met237Ile,False,237.0,237.0,M,M,I,NM_000546.6,1,0.0,Pathogenic,-8.383350372314453,0.7486830787996694,0.0,0.7834683365917856,0.0,0.0,0.9768936529296892,0.35,0.999999999999993,2.2,-0.6699115424939838,0.7,2.6,11.5,0.0,0.9447717695843127,1.4157206874592851
NM_000546.6(TP53):c.455C>T (p.Pro152Leu),TP53,587782705,RCV000132156|RCV000168122|RCV000583667|RCV000677669|RCV000755703|RCV001270267|RCV001255632|RCV003462034|RCV004668801|RCV004797600,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Familial cancer of breast|Squamous cell carcinoma of the head and neck|Lip and oral cavity carcinoma|Adrenocortical carcinoma, hereditary|Neoplasm|TP53-related disorder",GRCh38,NC_000017.11,17,7675157,7675157,na,na,142766,7675157,G,A,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro152Leu,False,152.0,152.0,P,P,L,NM_000546.6,1,0.0,Pathogenic,-9.278566360473633,0.6316242903750452,20.3,0.4047373052201823,21.7,14.1,0.9575923513483416,16.049999999999997,0.999999999678477,21.9,-0.8116018086813441,15.7,16.4,14.7,7.6,0.8215909285978342,1.0215466867371132
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu),TP53,121912664,RCV000132259|RCV000785297|RCV002288655|RCV003237742,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900",Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|not provided,GRCh38,NC_000017.11,17,7670699,7670699,na,na,142828,7670699,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg337Leu,False,337.0,337.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-6.802513599395752,0.6019385890554717,18.9,-0.640150954797273,17.9,15.2,,17.6,0.999801015131956,44.9,-0.7967504637732215,17.3,14.2,29.6,13.4,0.2336304308461027,-0.697797760290385
NM_000546.6(TP53):c.214C>G (p.Pro72Ala),TP53,587782769,RCV000132297|RCV000478624|RCV005016456|RCV005359299|RCV000409340|RCV004745212|RCV000473980,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|12 conditions|MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|12 conditions|Familial pancreatic carcinoma|Li-Fraumeni syndrome 1|TP53-related disorder|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676155,7676155,na,na,142854,7676155,G,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro72Ala,False,72.0,72.0,P,P,A,NM_000546.6,1,0.0002,Benign,-4.001242637634277,,110.4,,44.0,87.5,,80.05,,92.9,,122.1,72.6,65.1,64.5,,
NM_000546.6(TP53):c.797G>A (p.Gly266Glu),TP53,193920774,RCV000149050|RCV000255749|RCV000709403|RCV000421625|RCV000492556|RCV004668807|RCV000785456|RCV002288661,"Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Malignant tumor of prostate|not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Neoplasm|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673823,7673823,na,na,161516,7673823,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly266Glu,False,266.0,266.0,G,G,E,NM_000546.6,1,0.0,Pathogenic,-11.262069702148438,0.7379237997055633,0.8,0.8012701857100313,1.5,0.0,0.8482806142202819,1.15,1.0,5.3,-1.0230149192062483,0.0,2.5,0.0,3.1,1.105976481756506,1.5569907263577063
NM_000546.6(TP53):c.714T>G (p.Cys238Trp),TP53,193920789,RCV000203823|RCV000149049|RCV002362784,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Malignant tumor of prostate|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674249,7674249,na,na,161515,7674249,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Trp,False,238.0,238.0,C,C,W,NM_000546.6,1,0.0,Pathogenic,-12.388498306274414,1.181772751231699,0.0,0.6639241471166459,0.0,0.0,1.0199653680245817,0.0,1.0,0.8,-1.2119706392513798,1.7,4.4,0.0,0.0,1.4985284410119617,2.101841932552807
NM_000546.6(TP53):c.481G>A (p.Ala161Thr),TP53,193920817,RCV000149053|RCV000161027|RCV000214033|RCV000473543|RCV000761073|RCV000785328|RCV003474797,"Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Malignant tumor of prostate|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Ovarian neoplasm|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7675131,7675131,na,na,161518,7675131,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala161Thr,False,161.0,161.0,A,A,T,NM_000546.6,1,0.0,Pathogenic,-6.840958118438721,0.1473180722877814,47.0,0.5517379293893996,13.1,11.3,1.0171004376924075,21.6,0.999999998049278,37.0,-0.4785270523226585,21.9,18.0,21.3,22.8,0.6541362643075167,1.3365636683121105
NM_000546.6(TP53):c.722C>G (p.Ser241Cys),TP53,28934573,RCV000154419|RCV000236210|RCV000492778|RCV000785321|RCV002288664,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674241,7674241,na,na,177791,7674241,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser241Cys,False,241.0,241.0,S,S,C,NM_000546.6,1,0.0,Pathogenic,-12.913272857666016,1.0982533235564935,0.0,0.7034264470148304,0.0,0.0,0.9117125742788028,0.0,1.0,1.0,-1.5735661392225206,0.0,0.0,0.0,0.0,1.416413435785535,1.57742084457759
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro),TP53,121912664,RCV000154527|RCV001187412|RCV002288666,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670699,7670699,na,na,177879,7670699,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg337Pro,False,337.0,337.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-9.440205574035645,1.1084522297929766,11.3,-0.4671416614499386,6.9,8.9,,8.1,0.999999999999987,9.2,-1.7474930055938402,7.0,7.3,11.0,4.6,0.574359952661078,-1.1328653774035826
NM_000546.6(TP53):c.1150A>G (p.Met384Val),TP53,730882009,RCV000161040|RCV000195684|RCV000213071|RCV003407600|RCV004998310,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374||MedGen:C3661900",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not specified|TP53-related disorder|not provided,GRCh38,NC_000017.11,17,7669641,7669641,na,na,182939,7669641,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met384Val,False,384.0,384.0,M,M,V,NM_000546.6,1,0.0,Benign,-1.2354729175567627,-1.519371688693985,87.0,-0.0829228730563107,62.4,65.1,,66.55000000000001,2.6147229273693e-09,97.4,0.8366898044609452,67.2,50.7,78.7,65.9,-0.8349447758536206,-0.1487728344059316
NM_000546.6(TP53):c.842A>T (p.Asp281Val),TP53,587781525,RCV000161072|RCV000215048|RCV000799325|RCV002288706|RCV005016484,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|12 conditions,GRCh38,NC_000017.11,17,7673778,7673778,na,na,182968,7673778,T,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Val,False,281.0,281.0,D,D,V,NM_000546.6,1,0.0,Pathogenic,-16.19117546081543,-0.1242822672018814,0.0,0.4402212291389904,0.0,0.0,0.1473396039733502,0.0,0.999999999999822,0.0,-1.5301841230975182,0.6,0.5,0.0,0.0,0.5431310223827844,0.2234912112527168
NM_000546.6(TP53):c.751A>C (p.Ile251Leu),TP53,730882007,RCV000161037|RCV000492548|RCV000785277|RCV002280104|RCV002288694,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Gastric cancer|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674212,7674212,na,na,182937,7674212,T,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile251Leu,False,251.0,251.0,I,I,L,NM_000546.6,1,0.0,Pathogenic,-10.509312629699709,1.110699460536149,0.0,0.5487983423425165,0.0,0.0,1.011440878288406,0.1,1.0,21.7,-1.3809674671605856,0.0,1.0,0.9,0.2,1.247295057698227,1.2502182453979462
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr),TP53,730882005,RCV000161034|RCV000167907|RCV000235220|RCV000785261|RCV002288693|RCV001374444|RCV004794368|RCV004668817|RCV003462109,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Ovarian neoplasm|Li-Fraumeni syndrome 1|Gallbladder cancer|Hereditary breast ovarian cancer syndrome|Neoplasm|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7674250,7674250,na,na,182935,7674250,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Tyr,False,238.0,238.0,C,C,Y,NM_000546.6,1,4.676e-05,Pathogenic,-11.990774154663086,1.1882119391251544,13.1,0.5452106133887007,11.1,13.1,0.870472523498846,14.45,1.0,15.8,-1.5083807449651048,24.1,25.2,20.4,6.0,1.5202075242723792,1.8640298887268785
NM_000546.6(TP53):c.646G>A (p.Val216Met),TP53,730882025,RCV000161067|RCV000168150|RCV000583984|RCV000561534|RCV000663213|RCV000785523|RCV003474837|RCV004668819,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","not provided|Li-Fraumeni syndrome|not specified|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Ovarian neoplasm|Adrenocortical carcinoma, hereditary|Neoplasm",GRCh38,NC_000017.11,17,7674885,7674885,na,na,182965,7674885,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val216Met,False,216.0,216.0,V,V,M,NM_000546.6,1,0.0,Pathogenic,-10.766790390014648,1.3842815685025225,1.0,0.6962230565270535,3.1,0.0,1.0177584450622226,1.15,1.0,2.6,-1.1337202734888272,0.3,0.1,13.2,1.3,1.4508232183397831,1.834467813028001
NM_000546.6(TP53):c.524G>T (p.Arg175Leu),TP53,28934578,RCV000161065|RCV000810785|RCV002288703,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675088,7675088,na,na,182963,7675088,C,A,1.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg175Leu,False,175.0,175.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-9.339460372924805,-0.3786729015219982,81.3,0.2705907487316679,9.6,33.9,0.9723377373520744,38.9,0.54626652881659,61.8,0.2073973703092912,21.7,40.9,44.6,36.9,0.1182873824548493,0.9409324191958374
NM_000546.6(TP53):c.380C>T (p.Ser127Phe),TP53,730881999,RCV000161024|RCV000633384|RCV000606528|RCV000785332|RCV003162681|RCV003474836|RCV004019945,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","not provided|Li-Fraumeni syndrome|not specified|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7675232,7675232,na,na,182928,7675232,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser127Phe,False,127.0,127.0,S,S,F,NM_000546.6,1,0.0,Pathogenic,-13.748870849609377,1.0396193933618807,5.6,0.6151819463569042,8.2,12.0,1.0319348668681696,10.5,1.0,9.0,-1.274568598875202,20.6,14.3,20.1,8.4,1.314263482046252,1.628602453901673
NM_000546.6(TP53):c.370T>A (p.Cys124Ser),TP53,730881997,RCV000161022|RCV000574455|RCV001048454,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675999,7675999,na,na,182926,7675999,A,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys124Ser,False,124.0,124.0,C,C,S,NM_000546.6,1,0.0,Benign,-8.357796669006348,0.1547805967614744,134.6,0.0401643916461711,60.2,84.2,,92.45,0.080187719406886,113.0,0.0177533842910784,84.9,100.0,119.1,81.5,0.1463081006620888,0.3018970895158706
NM_000546.6(TP53):c.344A>G (p.His115Arg),TP53,730881996,RCV000161021|RCV000696891|RCV000575197|RCV001192619,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not specified,GRCh38,NC_000017.11,17,7676025,7676025,na,na,182925,7676025,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His115Arg,False,115.0,115.0,H,H,R,NM_000546.6,1,0.0,Benign,-6.421119689941406,-0.3357911347009308,149.1,-0.1063072157250522,50.7,108.4,,97.0,5.91916613919693e-06,101.0,0.6094759202153299,116.2,92.3,93.0,78.1,-0.344124717070272,-0.0871070962945552
NM_000546.6(TP53):c.245C>T (p.Pro82Leu),TP53,534447939,RCV000161047|RCV000213048|RCV000205955|RCV000989726|RCV001250438|RCV001355900|RCV003965183,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0007254,MedGen:C0006142|",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Malignant tumor of breast|TP53-related disorder,GRCh38,NC_000017.11,17,7676124,7676124,na,na,182946,7676124,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro82Leu,False,82.0,82.0,P,P,L,NM_000546.6,1,2.341e-05,Benign,-6.810601234436035,-0.7212975800978293,96.9,-0.1096950456581509,32.8,80.0,,76.15,1.5867292826185e-06,69.2,0.5082660088168316,102.8,110.4,72.3,52.8,-0.4096552607900942,0.0005978065443782
NM_000546.6(TP53):c.188C>T (p.Ala63Val),TP53,372201428,RCV000161018|RCV000213047|RCV000663264|RCV000467874|RCV001264516,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not specified,GRCh38,NC_000017.11,17,7676181,7676181,na,na,182922,7676181,G,A,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala63Val,False,63.0,63.0,A,A,V,NM_000546.6,1,0.0,Benign,-4.326115608215332,-0.1890049802998524,135.9,-0.2462787403219184,54.2,95.1,,81.0,1.01129602801821e-05,83.0,0.4251042106435678,138.5,76.8,70.5,79.0,-0.3445489804324603,-0.4195377503539606
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser),TP53,749061599,RCV000166408|RCV000236607|RCV000412389|RCV000795303,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7669656,7669656,na,na,186762,7669656,G,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg379Ser,False,379.0,379.0,R,R,S,NM_000546.6,1,2.339e-05,Benign,-2.380223274230957,-0.568683278603368,75.4,-0.0455191052389767,58.2,70.6,,68.0,8.16737855495768e-07,85.3,0.9065027755425517,65.4,56.3,73.3,47.8,-0.5396092756180987,-0.1436417727083766
NM_000546.6(TP53):c.997C>T (p.Arg333Cys),TP53,769934890,RCV000164055|RCV000197833|RCV000485066|RCV000989701|RCV000780790|RCV001294069|RCV003407609|RCV005359459,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535;Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Squamous cell carcinoma of the head and neck|not specified|Li-Fraumeni syndrome 1|TP53-related disorder|Familial cancer of breast;Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670712,7670712,na,na,184745,7670712,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg333Cys,False,333.0,333.0,R,R,C,NM_000546.6,1,7.027e-05,Benign,-9.410113334655762,-0.5689875494184711,131.3,-0.256009314114533,90.3,116.7,,102.3,8.93706989904317e-07,101.8,0.5776875966654301,82.7,102.8,106.6,79.9,-0.7750920094140406,-1.1786008821582206
NM_000546.6(TP53):c.943T>A (p.Ser315Thr),TP53,762620193,RCV000164586|RCV001255575|RCV000793553|RCV003895130,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome|TP53-related disorder,GRCh38,NC_000017.11,17,7673585,7673585,na,na,185212,7673585,A,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser315Thr,False,315.0,315.0,S,S,T,NM_000546.6,1,0.0001,Benign,-3.3458683490753174,-0.5751304169610205,154.7,-0.456845439460849,85.4,95.8,,87.2,2.72509467640269e-06,125.4,0.4446657098137105,89.0,71.2,64.8,84.7,-0.3733021480940864,-0.1001103175075282
NM_000546.6(TP53):c.856G>A (p.Glu286Lys),TP53,786201059,RCV000162466|RCV000255724|RCV000466372|RCV002288710|RCV004813066|RCV004668822,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C4288013|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Vulvar adenocarcinoma of mammary gland type|Neoplasm,GRCh38,NC_000017.11,17,7673764,7673764,na,na,183752,7673764,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu286Lys,False,286.0,286.0,E,E,K,NM_000546.6,1,0.0,Pathogenic,-12.481807708740234,1.2319882225041998,11.7,0.5428848777313244,13.3,12.0,1.0378124786255278,15.8,1.0,21.8,-1.4026263742522391,18.3,23.5,25.9,6.0,1.3913798720419168,1.5395250193693115
NM_000546.6(TP53):c.827C>G (p.Ala276Gly),TP53,786202082,RCV000164718|RCV003765021,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673793,7673793,na,na,185319,7673793,G,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala276Gly,False,276.0,276.0,A,A,G,NM_000546.6,1,0.0,Pathogenic,-9.472528457641602,0.5413034881766118,0.0,0.2789882060243995,0.0,0.0,0.9613569939074598,0.0,0.999999996127343,49.3,-1.0249800693142144,1.3,0.0,0.0,0.0,0.6771160405702457,0.4650645642199106
NM_000546.6(TP53):c.814G>A (p.Val272Met),TP53,121912657,RCV000165304|RCV000457645|RCV001527085|RCV000785341|RCV002243833|RCV005365079|RCV004668825,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524;MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Ovarian neoplasm|not provided|Li-Fraumeni syndrome 1;Familial pancreatic carcinoma|Neoplasm,GRCh38,NC_000017.11,17,7673806,7673806,na,na,185814,7673806,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val272Met,False,272.0,272.0,V,V,M,NM_000546.6,1,2.343e-05,Pathogenic,-10.403801918029783,1.1497432617033292,23.2,0.583903333220297,13.2,10.8,0.9206475039387998,17.2,1.0,21.7,-1.2004719201008365,14.5,16.4,24.8,18.0,1.3801439364040042,1.7902166274078477
NM_000546.6(TP53):c.578A>G (p.His193Arg),TP53,786201838,RCV000164329|RCV000460847|RCV000255425|RCV000429618|RCV002288732|RCV000785346|RCV003474857,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Ovarian neoplasm|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7674953,7674953,na,na,184979,7674953,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His193Arg,False,193.0,193.0,H,H,R,NM_000546.6,1,0.0,Pathogenic,-10.862725257873535,1.4163231828151968,4.2,0.6658647170431164,6.1,7.2,0.8748374373672507,8.65,1.0,10.1,-1.1782917819333212,16.8,13.7,19.3,4.6,1.4766897578708444,1.8354543088640147
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr),TP53,786202962,RCV000166045|RCV000255616|RCV000461158|RCV001354219|RCV002288754|RCV003128588|RCV003407616|RCV003474872|RCV003995473,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501","Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Familial ovarian cancer|Li-Fraumeni syndrome 1|Squamous cell carcinoma|TP53-related disorder|Adrenocortical carcinoma, hereditary|Adrenal cortex carcinoma",GRCh38,NC_000017.11,17,7675085,7675085,na,na,186451,7675085,C,T,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys176Tyr,False,176.0,176.0,C,C,Y,NM_000546.6,1,0.0,Pathogenic,-13.035704612731934,0.8063204221037474,29.3,0.7617395853137994,7.4,3.6,0.9797243671988356,13.2,1.0,73.5,-0.8773600675530533,24.5,13.5,12.9,11.2,1.2381069048017377,2.0306402247484114
NM_000546.6(TP53):c.509C>T (p.Thr170Met),TP53,779000871,RCV000163119|RCV000206777|RCV000478196|RCV000662787|RCV002465543|RCV004797603,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|not specified|TP53-related disorder,GRCh38,NC_000017.11,17,7675103,7675103,na,na,184014,7675103,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr170Met,False,170.0,170.0,T,T,M,NM_000546.6,1,9.353e-05,Benign,-9.202760696411133,-0.6574145500490726,151.2,0.0804521020465642,60.7,43.7,-1.3158769734889426,68.4,3.04479230854643e-06,135.3,1.0684660672157866,76.1,11.6,29.4,101.3,-0.5392500687916838,0.1081304108898079
NM_000546.6(TP53):c.469G>A (p.Val157Ile),TP53,121912654,RCV000164816|RCV000235399|RCV000528459|RCV001824651,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|not specified,GRCh38,NC_000017.11,17,7675143,7675143,na,na,185404,7675143,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val157Ile,False,157.0,157.0,V,V,I,NM_000546.6,1,0.0002,Benign,-5.800786972045898,-0.5682346656384891,182.2,0.1211458674727943,80.8,67.8,-0.7496519610601278,74.65,0.0007855268016139,100.0,0.4387656869454484,55.4,80.7,39.5,68.6,-0.1377124151597382,0.5938631071047228
NM_000546.6(TP53):c.215C>A (p.Pro72His),TP53,1042522,RCV000164487|RCV000227427|RCV004998321|RCV004745241,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|TP53-related disorder,GRCh38,NC_000017.11,17,7676154,7676154,na,na,185120,7676154,G,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro72His,False,72.0,72.0,P,P,H,NM_000546.6,1,0.0,Benign,-7.312701225280762,,143.4,,60.6,104.4,,86.85,,86.9,,111.2,86.8,78.3,75.4,,
NM_000546.6(TP53):c.145G>A (p.Asp49Asn),TP53,587780728,RCV000423399|RCV001123209|RCV000165946|RCV000540357|RCV004998339,"MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",not specified|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7676224,7676224,na,na,186363,7676224,C,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp49Asn,False,49.0,49.0,D,D,N,NM_000546.6,1,0.0,Benign,-5.533539295196533,-0.4523792420572201,146.1,0.0196324854251843,110.6,117.5,,117.6,3.32761528791618e-05,117.7,0.4341023254759176,118.9,125.5,110.8,86.9,-0.2767523850028474,0.0562244125245953
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu),TP53,863224682,RCV000199273|RCV000219990|RCV000590314|RCV005361152,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7669655,7669655,na,na,216463,7669655,C,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg379Leu,False,379.0,379.0,R,R,L,NM_000546.6,1,0.0,Benign,-3.273437738418579,-1.2975746108930686,86.8,-0.3820240502786309,61.7,75.9,,71.4,3.45170701777109e-09,79.9,0.8582794397582075,59.1,71.4,71.4,56.4,-0.8244653875422835,-0.3175421119755742
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro),TP53,375338359,RCV000198319|RCV000213216|RCV000785264|RCV001538204|RCV002288808,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670684,7670684,na,na,215996,7670684,C,G,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg342Pro,False,342.0,342.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-9.314922332763672,1.5474543118306578,6.1,-0.2943872542844794,3.8,10.4,,10.25,0.999999999999998,10.1,-1.7495993460884385,20.5,12.8,16.4,5.8,0.6795013927907853,-1.2585494795467402
NM_000546.6(TP53):c.868C>T (p.Arg290Cys),TP53,770374782,RCV000198910|RCV000236248|RCV000492120|RCV001723772,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673752,7673752,na,na,216472,7673752,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg290Cys,False,290.0,290.0,R,R,C,NM_000546.6,1,0.0001,Benign,-9.129796028137209,-0.7549227292537946,150.6,0.0293750670304451,94.9,140.4,-0.8533045104275883,134.2,4.13446320302785e-06,279.2,0.5372982775647719,99.1,148.7,128.0,96.5,-0.4032751653264013,0.0823955108393627
NM_000546.6(TP53):c.851C>T (p.Thr284Ile),TP53,863224685,RCV000197045|RCV000569733|RCV000483278,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided,GRCh38,NC_000017.11,17,7673769,7673769,na,na,216471,7673769,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr284Ile,False,284.0,284.0,T,T,I,NM_000546.6,1,0.0,Benign,-9.016252517700195,-0.9391182403617632,128.8,-0.405161847055546,75.2,122.1,-1.159245122815152,125.45,1.29317713885741e-07,121.1,0.5626117805153462,142.9,174.0,251.2,98.0,-0.5539240744369921,-0.160042202433867
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr),TP53,863224451,RCV000197359|RCV000235315|RCV000568594|RCV001610519|RCV003468892|RCV000785533|RCV003320135|RCV002288809|RCV004668842,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Breast carcinoma|Adrenocortical carcinoma, hereditary|Ovarian neoplasm|Acute myeloid leukemia|Li-Fraumeni syndrome 1|Neoplasm",GRCh38,NC_000017.11,17,7673796,7673796,na,na,215997,7673796,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys275Tyr,False,275.0,275.0,C,C,Y,NM_000546.6,1,0.0,Pathogenic,-13.635822296142578,1.1847885489578711,0.0,0.8052221944606406,0.0,0.0,0.973720571569574,0.0,1.0,0.0,-1.4399010615648338,0.7,0.0,0.0,0.0,1.4900556432999952,1.84547731937728
NM_000546.6(TP53):c.706T>C (p.Tyr236His),TP53,587782289,RCV000198628|RCV000492107|RCV004020463,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674257,7674257,na,na,216469,7674257,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr236His,False,236.0,236.0,Y,Y,H,NM_000546.6,1,0.0,Pathogenic,-12.047552108764648,0.7567088717458408,11.1,0.3718472182331569,10.5,10.8,0.7672474340552269,11.9,0.999999999093309,12.7,-0.6215547360984067,23.6,24.5,21.4,4.9,0.8827739281818759,1.27005817670138
NM_000546.6(TP53):c.584T>C (p.Ile195Thr),TP53,760043106,RCV000198789|RCV000421097|RCV000487386|RCV000785324|RCV001024600|RCV001271054|RCV002288812|RCV003474953|RCV004668846|RCV004725053|RCV005361139,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535;Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Li-Fraumeni syndrome|Lung adenocarcinoma|not provided|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary|Neoplasm|TP53-related disorder|Familial cancer of breast;Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7674947,7674947,na,na,216077,7674947,A,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile195Thr,False,195.0,195.0,I,I,T,NM_000546.6,1,0.0,Pathogenic,-13.367878913879396,0.9599340903104202,8.2,0.4023673076082623,8.9,8.4,0.8813139500435406,11.35,0.999999999999999,16.5,-1.0923082495642555,18.6,13.8,22.3,6.2,1.216791613550942,1.5981325007781502
NM_000546.6(TP53):c.374C>A (p.Thr125Lys),TP53,786201057,RCV000197507|RCV003165469,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675995,7675995,na,na,216465,7675995,G,T,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr125Lys,False,125.0,125.0,T,T,K,NM_000546.6,1,0.0,Pathogenic,-14.045130729675291,-0.1113191866594115,6.6,0.4575818816846155,4.6,3.5,,7.55,0.999579593896806,8.5,-0.3316245767782397,27.0,11.2,15.6,6.5,0.2444976421136491,0.5131875362221192
NM_000546.6(TP53):c.149T>C (p.Ile50Thr),TP53,370502517,RCV000197538|RCV000220760|RCV000662678,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7676220,7676220,na,na,216464,7676220,A,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile50Thr,False,50.0,50.0,I,I,T,NM_000546.6,1,0.0,Benign,-5.595770359039307,-0.9145503705639556,90.5,-0.3240705127253775,57.4,37.6,,56.0,3.02566399140274e-08,95.5,0.7609187799653663,65.5,42.1,30.6,54.6,-0.7633135845818448,-0.6144716032162126
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp),TP53,864622237,RCV000204217|RCV000492197|RCV004020511,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674263,7674263,na,na,219759,7674263,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr234Asp,False,234.0,234.0,Y,Y,D,NM_000546.6,1,0.0,Pathogenic,-15.254398345947266,1.1559467452071588,9.5,0.4792166973389145,9.2,12.2,0.9449455021427768,12.8,1.0,13.4,-1.19191604903018,27.5,21.4,16.9,3.9,1.3409809596242426,1.6750800846353888
NM_000546.6(TP53):c.380C>G (p.Ser127Cys),TP53,730881999,RCV000205404,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675232,7675232,na,na,219532,7675232,G,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser127Cys,False,127.0,127.0,S,S,C,NM_000546.6,1,0.0,Pathogenic,-12.255518913269045,0.8162770020472696,4.3,0.2421387410114182,5.6,11.7,0.9258662227553058,7.2,0.999999979070537,4.3,-0.7972754658116535,8.8,14.7,15.1,4.1,0.7962369695181485,0.7751584406955224
NM_000546.6(TP53):c.517G>A (p.Val173Met),TP53,876660754,RCV000214341|RCV000223396|RCV001255635|RCV000785308|RCV005230127|RCV004797606|RCV000477355,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Lip and oral cavity carcinoma|Ovarian neoplasm|Neoplasm|TP53-related disorder|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675095,7675095,na,na,233951,7675095,C,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val173Met,False,173.0,173.0,V,V,M,NM_000546.6,1,0.0,Pathogenic,-10.514055252075195,1.0663609230305673,7.0,0.6752815361613358,2.3,8.4,0.9254368941503768,7.7,1.0,6.4,-1.2014883955989266,17.4,8.5,18.4,3.4,1.3994612436286704,1.930534412256517
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg),TP53,587781858,RCV000217404|RCV000235558|RCV000529612|RCV003929915|RCV005230108,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524||MedGen:CN169374",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|TP53-related disorder|not specified,GRCh38,NC_000017.11,17,7669671,7669671,na,na,230269,7669671,C,G,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly374Arg,False,374.0,374.0,G,G,R,NM_000546.6,1,0.0,Benign,-3.0742111206054688,-1.4832778949965209,107.2,-0.2887219148843871,71.9,103.2,,94.35,6.36704612290462e-10,108.9,0.9854711908223192,88.5,88.6,100.1,65.0,-1.0065361712786458,-0.5508594280170973
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg),TP53,766786605,RCV000213405|RCV000471717|RCV000481680|RCV000781911|RCV003919893,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374|",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|not specified|TP53-related disorder,GRCh38,NC_000017.11,17,7670643,7670643,na,na,234059,7670643,C,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly356Arg,False,356.0,356.0,G,G,R,NM_000546.6,1,2.34e-05,Benign,-4.1471476554870605,-0.0876655412229136,107.4,-0.3129178550027927,60.9,96.5,,88.25,3.31468127703725e-05,104.0,0.3469204914929732,86.6,84.8,89.9,47.0,-0.2435398445938198,-0.2960335010655726
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys),TP53,755394212,RCV000222255|RCV000663226|RCV000469791|RCV001269248|RCV000626710,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|Human Phenotype Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375;Human Phenotype Ontology:HP:0200063,MONDO:MONDO:0021392,MedGen:C0949059",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not specified|Colonic neoplasm;Colorectal polyposis,GRCh38,NC_000017.11,17,7670649,7670649,na,na,231485,7670649,G,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gln354Lys,False,354.0,354.0,Q,Q,K,NM_000546.6,1,7.018e-05,Benign,-3.462526798248291,-0.8064325845469437,124.9,-0.1784594017114076,76.3,125.9,,123.0,8.78557172257605e-08,162.7,0.8637426461337353,111.1,151.2,121.1,117.1,-0.6407160271505074,-0.2519728507708432
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln),TP53,375338359,RCV000213668|RCV000688863|RCV000478259|RCV002247662,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|not specified,GRCh38,NC_000017.11,17,7670684,7670684,na,na,233136,7670684,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg342Gln,False,342.0,342.0,R,R,Q,NM_000546.6,1,0.0,Benign,-5.1397247314453125,-0.2309821799691442,119.7,-0.4595072533323308,70.0,98.6,,100.8,2.87299971223258e-05,104.3,0.2770565740649483,103.0,94.2,132.6,93.9,-0.3048473013074289,-0.4065031498881945
NM_000546.6(TP53):c.949C>A (p.Gln317Lys),TP53,764735889,RCV000223439|RCV000485421|RCV000541248|RCV005361284|RCV003929916,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|TP53-related disorder,GRCh38,NC_000017.11,17,7673579,7673579,na,na,231008,7673579,G,T,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gln317Lys,False,317.0,317.0,Q,Q,K,NM_000546.6,1,0.0,Benign,-5.124527454376221,-0.6224551407677594,157.2,-0.0632591271177003,109.8,128.0,,106.95,1.52269115084705e-06,158.3,0.5526969291414026,93.6,95.7,92.6,104.1,-0.4624637672188602,-0.2122392317474185
NM_000546.6(TP53):c.833C>T (p.Pro278Leu),TP53,876659802,RCV000214784|RCV001541668|RCV000785311|RCV001042706|RCV001374441,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452",Hereditary cancer-predisposing syndrome|not provided|Ovarian neoplasm|Li-Fraumeni syndrome|Gallbladder cancer,GRCh38,NC_000017.11,17,7673787,7673787,na,na,232497,7673787,G,A,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro278Leu,False,278.0,278.0,P,P,L,NM_000546.6,1,0.0,Pathogenic,-11.83397102355957,1.361235927867101,3.2,0.5084526571295498,1.4,2.7,1.047506083506896,2.4000000000000004,1.0,3.7,-1.4366645255664192,1.3,6.0,2.1,1.5,1.5037265860553362,1.7132793047324884
NM_000546.6(TP53):c.818G>C (p.Arg273Pro),TP53,28934576,RCV000222860|RCV000553607|RCV000785460|RCV002288863,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673802,7673802,na,na,231060,7673802,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273Pro,False,273.0,273.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-15.153590202331545,1.303419085533237,0.0,0.60811427812167,0.0,0.0,1.1916466694831058,0.0,1.0,0.0,-1.335750051822478,1.0,1.5,0.0,0.0,1.3976423647021434,1.5537579567507152
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr),TP53,876658916,RCV000213232|RCV000701990,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674184,7674184,na,na,231033,7674184,G,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser260Tyr,False,260.0,260.0,S,S,Y,NM_000546.6,1,6.373e-05,Benign,-7.694038391113281,-0.2942158843085947,145.7,0.133066803331308,110.5,166.0,-0.9137267415660127,106.2,0.0005244933888846,101.9,0.5025242291828681,73.9,161.0,69.8,88.0,-0.1600257001831162,0.316663012942114
NM_000546.6(TP53):c.743G>T (p.Arg248Leu),TP53,11540652,RCV000219834|RCV000991149|RCV003475005|RCV004020650,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7674220,7674220,na,na,230253,7674220,C,A,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg248Leu,False,248.0,248.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-14.157328605651855,0.4634394743175577,0.0,0.4844030122524223,0.0,0.0,1.018997503636338,0.0,0.99999999823964,0.0,-0.3941045879286342,0.0,0.8,0.0,0.0,0.7720881922986185,1.4587205146496631
NM_000546.6(TP53):c.638G>C (p.Arg213Pro),TP53,587778720,RCV000220461|RCV000506128|RCV002518297|RCV005241348|RCV002288865|RCV004668856,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7674893,7674893,na,na,231214,7674893,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg213Pro,False,213.0,213.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-14.302759170532228,1.5983644491954103,4.1,0.3646360057935478,0.6,0.0,1.0350161336474673,2.95,0.999999999978172,32.8,-0.5156480163573114,3.2,2.7,1.9,19.4,1.198230951964484,1.4806803903407302
NM_000546.6(TP53):c.587G>C (p.Arg196Pro),TP53,483352697,RCV000216410|RCV003114386|RCV005230113|RCV004020663,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674944,7674944,na,na,231165,7674944,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg196Pro,False,196.0,196.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-12.477265357971191,1.1921667125079982,10.3,0.5855056328545079,8.3,8.9,1.038402376216064,9.6,1.0,8.6,-1.5615486595348775,20.1,13.3,20.3,5.0,1.4444970196538025,1.5797756869185315
NM_000546.6(TP53):c.577C>T (p.His193Tyr),TP53,876658468,RCV000221478|RCV000412758|RCV000809571|RCV002288851|RCV003332145,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Malignant tumor of urinary bladder,GRCh38,NC_000017.11,17,7674954,7674954,na,na,230256,7674954,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His193Tyr,False,193.0,193.0,H,H,Y,NM_000546.6,1,0.0,Pathogenic,-10.91755199432373,0.8101391210807544,29.6,0.4417069577421773,31.7,16.6,0.9071197703034494,15.55,0.999999999999893,14.5,-0.9530675633371718,8.2,13.6,2.7,19.3,1.0572781167710514,1.4086276658952277
NM_000546.6(TP53):c.558T>A (p.Asp186Glu),TP53,375275361,RCV000213742|RCV000235477|RCV000470622|RCV002288848,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675054,7675054,na,na,230006,7675054,A,T,0.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp186Glu,False,186.0,186.0,D,D,E,NM_000546.6,1,0.0,Benign,-5.449808120727539,-0.2297656170454596,131.4,-0.0978936564892785,78.2,77.4,0.8871386079180702,81.75,3.84740307894012e-05,94.8,0.577624426534974,85.3,86.6,59.2,69.7,-0.2009000143146243,0.2046900006365606
NM_000546.6(TP53):c.480G>A (p.Met160Ile),TP53,772354334,RCV000218200|RCV000485502|RCV000542402|RCV005361280,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675132,7675132,na,na,230758,7675132,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met160Ile,False,160.0,160.0,M,M,I,NM_000546.6,1,4.676e-05,Benign,-6.044004917144775,-0.2150877350265492,119.9,-0.0163604967170489,46.8,52.2,0.961508079287536,53.6,0.0006913626143564,106.0,0.3855718422503781,41.7,75.4,55.0,51.6,-0.058628630801698,0.4247736848718332
NM_000546.6(TP53):c.401T>G (p.Phe134Cys),TP53,780442292,RCV000214547|RCV000656580,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900",Hereditary cancer-predisposing syndrome|not provided,GRCh38,NC_000017.11,17,7675211,7675211,na,na,230477,7675211,A,C,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe134Cys,False,134.0,134.0,F,F,C,NM_000546.6,1,2.341e-05,Pathogenic,-10.927847862243652,1.2619779287074842,5.0,0.4704048407896857,4.9,9.3,1.120076312925629,7.800000000000001,1.0,6.3,-1.0063695584290342,15.6,10.2,19.1,2.2,1.3156041440000756,1.6784649448637092
NM_000546.6(TP53):c.329G>C (p.Arg110Pro),TP53,11540654,RCV000222678|RCV000231991|RCV004698486|RCV002288889|RCV003462528,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Familial cancer of breast|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7676040,7676040,na,na,233627,7676040,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg110Pro,False,110.0,110.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-9.824369430541992,1.3802227977767392,8.1,0.5974882775620056,5.2,4.5,,9.2,1.0,11.0,-1.5208041576814328,17.8,10.3,11.1,3.7,1.328824432761874,1.0854463428274497
NM_000546.6(TP53):c.188C>G (p.Ala63Gly),TP53,372201428,RCV000216082|RCV000465288|RCV000614877|RCV000587780,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not specified|not provided,GRCh38,NC_000017.11,17,7676181,7676181,na,na,229693,7676181,G,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala63Gly,False,63.0,63.0,A,A,G,NM_000546.6,1,0.0,Benign,-3.8069944381713863,-0.5460931317935872,133.8,-0.3322705492279054,71.8,84.7,,75.30000000000001,4.44742534236381e-06,77.2,0.4566710669883304,126.1,61.5,67.9,73.4,-0.3057251412677366,0.0855887749787079
NM_000546.6(TP53):c.187G>A (p.Ala63Thr),TP53,876658902,RCV000213479,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676182,7676182,na,na,231015,7676182,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala63Thr,False,63.0,63.0,A,A,T,NM_000546.6,1,0.0,Benign,-4.663595676422119,-0.199222806189273,133.3,-0.5656445238697352,59.7,89.5,,86.95,2.5348448045025e-05,106.0,0.4501660201953422,102.6,56.3,49.9,84.4,-0.2839367316460791,-0.202421368553622
NM_000546.6(TP53):c.28G>C (p.Val10Leu),TP53,535274413,RCV000220427|RCV000791760|RCV001723807,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7676567,7676567,na,na,231387,7676567,C,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val10Leu,False,10.0,10.0,V,V,L,NM_000546.6,1,0.0,Benign,-1.956124782562256,-0.3803487386783948,139.9,-0.0690368325112917,51.3,131.9,,120.7,5.10413075343224e-05,125.9,0.1587221411240241,112.4,115.5,152.3,80.5,-0.408738572769903,-0.6871448385072902
NM_000546.6(TP53):c.23C>T (p.Pro8Leu),TP53,876659415,RCV000221732,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676572,7676572,na,na,231868,7676572,G,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro8Leu,False,8.0,8.0,P,P,L,NM_000546.6,1,0.0,Benign,-3.5296719074249268,-0.52345314296916,123.4,-0.0113352819519865,70.0,104.7,,108.7,0.0001899118282984,142.5,-0.0079094450799376,99.3,112.7,141.9,81.3,-0.3606795258192671,-0.5664948795685789
NM_000546.6(TP53):c.743G>C (p.Arg248Pro),TP53,11540652,RCV000229442|RCV002378977|RCV004020765,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674220,7674220,na,na,237954,7674220,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg248Pro,False,248.0,248.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-11.83760929107666,1.6616517079076298,4.6,0.9921999845827892,3.3,0.0,0.9348783491186023,6.55,1.0,12.7,-1.7433651561843282,10.7,9.5,8.5,3.6,1.8998282728392253,2.2944679544257185
NM_000546.6(TP53):c.11C>T (p.Pro4Leu),TP53,878854064,RCV000229754|RCV000571530|RCV000759369|RCV000662489|RCV000780782,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|not specified,GRCh38,NC_000017.11,17,7676584,7676584,na,na,237941,7676584,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro4Leu,False,4.0,4.0,P,P,L,NM_000546.6,1,0.0,Benign,-3.661012172698975,-0.5118720224118465,104.1,0.0187475080469448,91.5,111.1,,94.3,1.27731180870968e-05,86.4,0.3563590622805784,65.3,187.2,97.1,65.4,-0.4118299079894142,-0.3672586392758178
NM_000546.6(TP53):c.1136G>A (p.Arg379His),TP53,863224682,RCV000235637|RCV000581851|RCV000410457|RCV000696782,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7669655,7669655,na,na,246221,7669655,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg379His,False,379.0,379.0,R,R,H,NM_000546.6,1,5.844e-05,Benign,-3.7144742012023926,-0.9968641825326018,112.8,0.1074882963489207,69.9,82.2,,77.80000000000001,7.963297584989e-07,109.8,0.7405965362245645,92.0,63.6,73.4,63.2,-0.5648068680582874,0.0430401145823042
NM_000546.6(TP53):c.794T>C (p.Leu265Pro),TP53,879253942,RCV000235981|RCV000662855|RCV000564617|RCV000554509|RCV001257518,"MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780",not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Rhabdomyosarcoma,GRCh38,NC_000017.11,17,7673826,7673826,na,na,245777,7673826,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu265Pro,False,265.0,265.0,L,L,P,NM_000546.6,1,0.0,Pathogenic,-10.162144660949709,1.0436131880777049,0.0,0.8895714139600426,0.0,0.0,0.99136263951439,0.0,1.0,0.1,-0.7993575904540218,0.0,0.4,0.0,0.0,1.123585734477176,1.5277864248998014
NM_000546.6(TP53):c.538G>A (p.Glu180Lys),TP53,879253911,RCV000235571|RCV000544036|RCV000492319|RCV004797607,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|TP53-related disorder,GRCh38,NC_000017.11,17,7675074,7675074,na,na,245711,7675074,C,T,1.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu180Lys,False,180.0,180.0,E,E,K,NM_000546.6,1,0.0,Pathogenic,-9.124224662780762,0.6330198960603985,65.6,0.44830346020552,20.9,12.0,0.9888155504446448,22.75,0.999999999997845,81.7,-0.8377893271912377,24.6,16.9,19.2,38.5,0.9556316918461242,1.3960858522867363
NM_000546.6(TP53):c.473G>C (p.Arg158Pro),TP53,587782144,RCV000236862|RCV000989719|RCV002288931|RCV000548853|RCV002288932,"MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",not provided|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675139,7675139,na,na,246118,7675139,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg158Pro,False,158.0,158.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-13.912715911865234,1.1263361969193957,7.2,0.5413590264907724,7.2,4.2,0.9713977219798524,7.2,1.0,6.4,-1.2577940221856092,16.8,15.2,17.2,1.6,1.3054638993575791,1.5322614789677338
NM_000546.6(TP53):c.731G>A (p.Gly244Asp),TP53,985033810,RCV000413969|RCV000785537|RCV000561866|RCV000477083|RCV003168599|RCV002288986|RCV004668915,"MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",not provided|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Gastric cancer|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7674232,7674232,na,na,372785,7674232,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly244Asp,False,244.0,244.0,G,G,D,NM_000546.6,1,0.0,Pathogenic,-11.809732437133787,0.5322474301140102,0.0,0.6483053717432361,0.0,0.0,0.980498356373287,0.15,0.999999999999999,131.3,-1.0823479555026825,0.9,0.3,0.0,1.6,1.0080940161474905,1.4096866628257794
NM_000546.6(TP53):c.746G>C (p.Arg249Thr),TP53,587782329,RCV001311109|RCV002392945|RCV004022197,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674217,7674217,na,na,376015,7674217,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg249Thr,False,249.0,249.0,R,R,T,NM_000546.6,1,0.0,Pathogenic,-13.945329666137695,1.308844449875274,0.0,0.6955829196190217,0.0,0.0,1.0138987068288572,0.0,1.0,0.0,-1.2450171835152453,0.0,0.0,2.5,0.0,1.5322085026636365,2.0427638746003898
NM_000546.6(TP53):c.518T>C (p.Val173Ala),TP53,1057519747,RCV000775880|RCV001237773|RCV002289516,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675094,7675094,na,na,376017,7675094,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val173Ala,False,173.0,173.0,V,V,A,NM_000546.6,1,0.0,Pathogenic,-9.934562683105469,0.9851679884682578,39.2,0.7142133570250528,6.4,25.9,0.872724344158544,22.0,0.999999999999999,29.9,-0.9021253512960103,12.4,12.2,18.1,30.4,1.0665259135915586,1.3122844010104076
NM_000546.6(TP53):c.404G>T (p.Cys135Phe),TP53,587781991,RCV000425788|RCV000492398|RCV004022199|RCV001203469,"Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Adrenal cortex carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675208,7675208,na,na,376559,7675208,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys135Phe,False,135.0,135.0,C,C,F,NM_000546.6,1,0.0,Pathogenic,-12.1220064163208,0.8423847400254234,4.5,0.3548332082129075,6.5,8.0,0.9806518928456834,7.25,0.999999834612481,6.4,-0.4887307457354198,17.1,13.5,18.9,3.3,0.7534878681089717,0.9293481185660724
NM_000546.6(TP53):c.403T>C (p.Cys135Arg),TP53,1057519975,RCV001383908|RCV004022200,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675209,7675209,na,na,376560,7675209,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys135Arg,False,135.0,135.0,C,C,R,NM_000546.6,1,0.0,Pathogenic,-14.360462188720703,0.9252636890487724,11.1,0.4368904582176474,7.6,2.0,0.8670265123000568,7.95,0.999999995020912,10.0,-0.5059858913649394,1.4,4.0,8.3,12.0,0.8391885351040186,1.086316024898344
NM_000546.6(TP53):c.403T>G (p.Cys135Gly),TP53,1057519975,RCV000785515|RCV000570655|RCV000991142|RCV004022201,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675209,7675209,na,na,376563,7675209,A,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys135Gly,False,135.0,135.0,C,C,G,NM_000546.6,1,0.0,Pathogenic,-13.627700805664062,0.6478094485967086,18.9,0.5065496843976776,11.9,13.4,0.9894666743615012,15.25,1.0,17.1,-1.5154282275527993,13.6,16.5,20.8,14.0,1.2578751123927563,1.610387661028761
NM_000546.6(TP53):c.423C>G (p.Cys141Trp),TP53,1057519977,RCV000492201|RCV000467641,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675189,7675189,na,na,376564,7675189,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys141Trp,False,141.0,141.0,C,C,W,NM_000546.6,1,0.0,Pathogenic,-11.891159057617188,0.4839663504949772,20.2,0.3382367656865914,12.4,11.9,1.0020378776989771,13.25,0.999999999999999,14.1,-1.209194812869984,10.6,17.5,34.1,11.7,1.128696566252734,1.6929285353932406
NM_000546.6(TP53):c.527G>T (p.Cys176Phe),TP53,786202962,RCV001244047|RCV002348142|RCV004022202|RCV005230299,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7675085,7675085,na,na,376569,7675085,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys176Phe,False,176.0,176.0,C,C,F,NM_000546.6,1,0.0,Pathogenic,-13.056190490722656,0.4487637022494034,95.8,0.5863791451356408,19.5,5.0,0.9749797205777804,23.65,0.999999999983156,100.9,-0.3455658045625799,37.8,15.0,15.7,27.8,0.8401822847260005,1.7262173473660185
NM_000546.6(TP53):c.713G>T (p.Cys238Phe),TP53,730882005,RCV000473420|RCV002365459|RCV004022207,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674250,7674250,na,na,376574,7674250,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Phe,False,238.0,238.0,C,C,F,NM_000546.6,1,0.0,Pathogenic,-10.856958389282228,0.7540166439086629,0.0,0.7081886896010563,0.0,0.0,0.9645639733142072,0.0,0.999999999994143,1.7,-0.3208787155489919,1.3,4.6,0.0,0.0,0.8493347890700619,1.4731090077525306
NM_000546.6(TP53):c.713G>C (p.Cys238Ser),TP53,730882005,RCV001067780|RCV001523834|RCV001551247|RCV002289520,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674250,7674250,na,na,376575,7674250,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Ser,False,238.0,238.0,C,C,S,NM_000546.6,1,0.0,Pathogenic,-11.228492736816406,0.7509398575847773,11.7,0.707298687950437,7.4,10.5,0.9276607979500342,12.8,0.999999999999999,13.9,-0.7213138709634013,25.0,20.3,18.0,4.0,1.0773521210801371,1.7598026346922324
NM_000546.6(TP53):c.712T>C (p.Cys238Arg),TP53,1057519981,RCV000812726|RCV000492666|RCV002289521,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674251,7674251,na,na,376576,7674251,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Arg,False,238.0,238.0,C,C,R,NM_000546.6,1,0.0,Pathogenic,-11.786398887634276,0.4546801525467861,0.0,0.7169866168351828,0.0,0.0,0.7551503621509055,0.4,0.999999999999999,0.9,-0.8209235543694483,0.8,0.8,47.9,0.0,0.9783064380433876,1.659315607213928
NM_000546.6(TP53):c.712T>G (p.Cys238Gly),TP53,1057519981,RCV000785550|RCV001390630|RCV002365460|RCV005256607,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900",Ovarian neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided,GRCh38,NC_000017.11,17,7674251,7674251,na,na,376577,7674251,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys238Gly,False,238.0,238.0,C,C,G,NM_000546.6,1,0.0,Pathogenic,-12.022475242614746,1.2689323911012778,11.7,0.4836360932905486,8.8,10.9,1.0233214494221707,13.1,0.999999999999998,14.5,-0.9227563641213502,23.0,17.6,19.5,4.3,1.2583159073245411,1.583258966750995
NM_000546.6(TP53):c.726C>G (p.Cys242Trp),TP53,375874539,RCV003621530,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674237,7674237,na,na,376580,7674237,G,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys242Trp,False,242.0,242.0,C,C,W,NM_000546.6,1,0.0,Pathogenic,-13.46627140045166,0.6287030829997329,8.5,0.4818929270128524,4.9,6.4,0.9569463236448452,10.35,0.999999999999472,12.2,-0.8039348900425799,23.4,16.4,22.3,5.4,0.9842194383483752,1.520020342002813
NM_000546.6(TP53):c.824G>T (p.Cys275Phe),TP53,863224451,RCV001861482|RCV000785323|RCV004948279|RCV005230300,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Neoplasm,GRCh38,NC_000017.11,17,7673796,7673796,na,na,376582,7673796,C,A,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys275Phe,False,275.0,275.0,C,C,F,NM_000546.6,1,0.0,Pathogenic,-14.422226905822754,1.0638729454918188,0.0,0.7322943770568433,0.0,0.0,0.552753791482006,0.0,1.0,0.0,-0.9963834343745096,0.0,0.0,0.0,0.0,1.241494688436562,1.6642276854433582
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr),TP53,764146326,RCV000792342|RCV004022209|RCV004668952,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7673779,7673779,na,na,376585,7673779,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Tyr,False,281.0,281.0,D,D,Y,NM_000546.6,1,0.0,Pathogenic,-15.826674461364746,0.3483682490227785,1.1,0.5759475669317711,3.6,6.0,0.2484411027021626,6.3,0.999999999999974,6.6,-1.1627464670138663,12.0,11.1,7.9,1.0,0.8460820279468488,1.0271313678039014
NM_000546.6(TP53):c.841G>A (p.Asp281Asn),TP53,764146326,RCV000824609|RCV000785452|RCV002446642|RCV005230301,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Neoplasm,GRCh38,NC_000017.11,17,7673779,7673779,na,na,376586,7673779,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Asn,False,281.0,281.0,D,D,N,NM_000546.6,1,0.0001,Pathogenic,-12.621336936950684,0.8574274321701683,0.0,0.3925909980902551,0.0,0.0,0.8806326585792534,0.0,1.0,0.0,-1.6051165572700752,0.7,0.6,0.0,0.0,1.192515530611211,1.1150026023933894
NM_000546.6(TP53):c.841G>C (p.Asp281His),TP53,764146326,RCV001292542|RCV002446644|RCV004022210|RCV001306199,"MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Gallbladder cancer|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673779,7673779,na,na,376588,7673779,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281His,False,281.0,281.0,D,D,H,NM_000546.6,1,0.0,Pathogenic,-14.870232582092283,0.8670409736114036,0.0,0.589334251916533,0.0,0.0,0.8755532736383888,0.0,1.0,0.0,-1.8331244174960943,1.1,1.0,0.0,0.0,1.210533850880643,0.93143616153443
NM_000546.6(TP53):c.842A>C (p.Asp281Ala),TP53,587781525,RCV003463826|RCV005286077,"MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162","Adrenocortical carcinoma, hereditary|Hereditary cancer-predisposing syndrome",GRCh38,NC_000017.11,17,7673778,7673778,na,na,376589,7673778,T,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Ala,False,281.0,281.0,D,D,A,NM_000546.6,1,0.0,Pathogenic,-16.138044357299805,-0.3288429953944491,0.0,0.2996233564929516,0.0,0.0,1.1234016760931096,0.0,0.999999999999998,0.0,-1.7536360224097831,0.2,0.0,0.0,0.0,0.6693094420687563,0.5831352991909347
NM_000546.6(TP53):c.857A>C (p.Glu286Ala),TP53,1057519985,RCV004022212,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673763,7673763,na,na,376593,7673763,T,G,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu286Ala,False,286.0,286.0,E,E,A,NM_000546.6,1,0.0,Pathogenic,-12.67197322845459,1.1691123038151572,2.2,0.7482820698697166,2.0,3.2,0.4803129067314889,2.6500000000000004,1.0,6.2,-1.927176390442064,0.2,4.2,0.0,3.1,1.6817104467750312,1.948842646067873
NM_000546.6(TP53):c.809T>C (p.Phe270Ser),TP53,1057519986,RCV000481465|RCV000824076|RCV002289522|RCV002289523,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673811,7673811,na,na,376594,7673811,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe270Ser,False,270.0,270.0,F,F,S,NM_000546.6,1,0.0,Pathogenic,-10.912964820861816,1.105910452432751,0.0,0.6996928517755172,0.0,0.0,0.956588083192981,0.0,1.0,0.6,-1.0532186229689149,0.0,1.8,0.0,0.0,1.1769055158563668,1.3715874721674342
NM_000546.6(TP53):c.809T>G (p.Phe270Cys),TP53,1057519986,RCV001805037|RCV002508212|RCV002524696|RCV003470375|RCV004022213,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7673811,7673811,na,na,376597,7673811,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe270Cys,False,270.0,270.0,F,F,C,NM_000546.6,1,0.0,Pathogenic,-10.152600288391112,1.206202043579606,0.0,0.7153906424805134,0.0,0.0,-0.0112449611385023,0.0,1.0,1.4,-1.2274463506114175,0.0,2.0,0.0,1.1,1.37493939112549,1.691169779185446
NM_000546.6(TP53):c.808T>G (p.Phe270Val),TP53,1057519988,RCV001027160,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673812,7673812,na,na,376598,7673812,A,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe270Val,False,270.0,270.0,F,F,V,NM_000546.6,1,0.0,Pathogenic,-8.090361595153809,0.4803631493202445,8.3,0.4810069282527107,18.6,14.9,-0.0377997500185494,14.45,0.999999999500875,16.2,-0.7954278902363884,0.0,24.0,4.6,14.0,0.7282671007987225,0.9090102628395348
NM_000546.6(TP53):c.730G>A (p.Gly244Ser),TP53,1057519989,RCV000492366|RCV001257520|RCV000633372|RCV002289524|RCV003476007|RCV003332172|RCV003168616|RCV004668954,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary|Malignant tumor of urinary bladder|Gastric cancer|Neoplasm",GRCh38,NC_000017.11,17,7674233,7674233,na,na,376600,7674233,C,T,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly244Ser,False,244.0,244.0,G,G,S,NM_000546.6,1,0.0,Pathogenic,-10.05587387084961,0.4644948438760242,0.0,0.4927903554492834,0.0,0.0,0.8748033156497247,0.0,0.999999999999996,2.4,-0.9894306904629522,0.6,0.0,0.0,0.0,1.0497766911738884,1.6954045391826889
NM_000546.6(TP53):c.734G>T (p.Gly245Val),TP53,121912656,RCV000558455|RCV001026313|RCV003476008|RCV001548147|RCV002289525|RCV004668955,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|not provided|Li-Fraumeni syndrome 1|Neoplasm",GRCh38,NC_000017.11,17,7674229,7674229,na,na,376603,7674229,C,A,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly245Val,False,245.0,245.0,G,G,V,NM_000546.6,1,0.0,Pathogenic,-12.09599781036377,0.3732371469270884,0.0,0.820388107595875,0.0,0.0,0.9244293150840164,0.0,0.999999999999996,0.0,-0.3260754558593799,0.0,0.0,0.0,0.0,0.8834357993529759,1.95099479527246
NM_000546.6(TP53):c.796G>C (p.Gly266Arg),TP53,1057519990,RCV002289526|RCV000803659|RCV001027017,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673824,7673824,na,na,376605,7673824,C,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly266Arg,False,266.0,266.0,G,G,R,NM_000546.6,1,0.0,Pathogenic,-12.002130508422852,1.0106595380668333,8.5,0.5143481801676628,8.4,10.5,0.8032742896943321,12.25,1.0,14.0,-1.2200482669774009,17.8,16.7,19.3,5.1,1.2699519878726644,1.5791481585737597
NM_000546.6(TP53):c.537T>G (p.His179Gln),TP53,876660821,RCV000815181|RCV002264935|RCV002289527|RCV001293868,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675075,7675075,na,na,376607,7675075,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His179Gln,False,179.0,179.0,H,H,Q,NM_000546.6,1,0.0,Pathogenic,-12.40036964416504,1.2739503958583818,37.9,0.6356439720496592,7.2,6.8,1.0450705108392044,16.799999999999997,1.0,80.3,-0.8647015802953434,28.9,11.2,19.4,14.2,1.4861215975130186,2.3197128163853318
NM_000546.6(TP53):c.535C>G (p.His179Asp),TP53,587780070,RCV001851020|RCV003470376|RCV005230303|RCV002348144|RCV003335320,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7675077,7675077,na,na,376610,7675077,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His179Asp,False,179.0,179.0,H,H,D,NM_000546.6,1,0.0,Pathogenic,-16.288721084594727,0.2879904292135052,41.1,0.5069369252912814,21.2,14.1,1.000919836833978,22.3,0.999999999999964,41.6,-0.6896095668980354,35.7,18.3,18.3,23.4,0.9852232155031876,1.9780696503980213
NM_000546.6(TP53):c.578A>C (p.His193Pro),TP53,786201838,RCV000991151|RCV001525967,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674953,7674953,na,na,376612,7674953,T,G,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His193Pro,False,193.0,193.0,H,H,P,NM_000546.6,1,0.0,Pathogenic,-13.153542518615724,1.2312538903409171,4.9,0.6182363083854627,7.6,11.0,0.9812800968927872,11.75,1.0,12.5,-1.2644026591500792,16.5,16.9,23.6,6.5,1.462169636595915,1.8908523602967484
NM_000546.6(TP53):c.577C>A (p.His193Asn),TP53,876658468,RCV004949418|RCV005109943,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674954,7674954,na,na,3460301,7674954,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His193Asn,False,193.0,193.0,H,H,N,NM_000546.6,1,0.0,Pathogenic,-13.185007095336914,0.8237355838632545,12.1,0.6379545004476808,12.7,12.4,0.5479938421553704,14.55,0.999999999999769,22.1,-0.6583971824887618,20.0,16.4,25.5,11.8,0.9715517674124337,1.4325225358852849
NM_000546.6(TP53):c.641A>G (p.His214Arg),TP53,1057519992,RCV000477234|RCV000492372|RCV001584113|RCV005027481|RCV004022220|RCV005230304,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|12 conditions|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|12 conditions|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7674890,7674890,na,na,376615,7674890,T,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His214Arg,False,214.0,214.0,H,H,R,NM_000546.6,1,0.0,Pathogenic,-10.166168212890623,0.9502170685522924,10.8,0.725436079195326,21.0,5.7,0.936511614519537,8.25,1.0,13.1,-0.8837460594498548,5.1,3.4,4.1,14.9,1.1647027412704702,1.6601450958092634
NM_000546.6(TP53):c.396G>C (p.Lys132Asn),TP53,866775781,RCV000424592|RCV000709407|RCV005230306|RCV004022223|RCV004719814,"MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900",Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Neoplasm|Li-Fraumeni syndrome 1|not provided,GRCh38,NC_000017.11,17,7675216,7675216,na,na,376624,7675216,C,G,1.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Lys132Asn,False,132.0,132.0,K,K,N,NM_000546.6,1,0.0,Pathogenic,-13.816622734069824,0.8498711787174907,4.6,0.5650869189959358,6.1,8.4,0.9989853505319368,7.25,0.999999999977567,5.0,-0.5825166209190286,17.3,12.9,17.8,3.2,0.9014182509251136,1.2718669531388211
NM_000546.6(TP53):c.395A>G (p.Lys132Arg),TP53,1057519996,RCV000471183|RCV000785521|RCV002356517|RCV005243222|RCV004668957|RCV004022224|RCV005018717|RCV004797608,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|",Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|not provided|Neoplasm|Li-Fraumeni syndrome 1|12 conditions|TP53-related disorder,GRCh38,NC_000017.11,17,7675217,7675217,na,na,376625,7675217,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Lys132Arg,False,132.0,132.0,K,K,R,NM_000546.6,1,0.0,Pathogenic,-9.45101833343506,1.4158509157882235,4.6,0.6978003693899388,5.5,9.1,0.977939987061322,10.1,1.0,16.5,-1.1991300232206172,23.3,11.1,17.5,4.2,1.337215197047967,1.3966646521350603
NM_000546.6(TP53):c.710T>A (p.Met237Lys),TP53,765848205,RCV004022231|RCV002524697|RCV002509381|RCV005230307,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Acute myeloid leukemia|Neoplasm,GRCh38,NC_000017.11,17,7674253,7674253,na,na,376636,7674253,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met237Lys,False,237.0,237.0,M,M,K,NM_000546.6,1,0.0,Pathogenic,-14.517179489135742,0.3724988120330575,17.5,0.1071084169492477,12.5,14.2,0.9529973256416152,17.4,0.999999999999933,25.4,-1.1511814068193638,23.5,23.9,17.3,10.6,1.0754991688201736,1.7028172876080996
NM_000546.6(TP53):c.716A>G (p.Asn239Ser),TP53,1057519999,RCV000567507|RCV001851021|RCV002510885|RCV002289529,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674247,7674247,na,na,376637,7674247,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn239Ser,False,239.0,239.0,N,N,S,NM_000546.6,1,0.0,Pathogenic,-10.221349716186523,0.351663554096962,15.0,0.3684446119602993,7.6,10.2,0.8165627950201094,16.1,0.999999955735066,17.2,-0.6722177719993837,24.5,18.0,21.8,4.2,0.6623422490431246,0.9631454210330278
NM_000546.6(TP53):c.452C>G (p.Pro151Arg),TP53,1057520000,RCV000633382|RCV003168617|RCV004022232,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675160,7675160,na,na,376640,7675160,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro151Arg,False,151.0,151.0,P,P,R,NM_000546.6,1,0.0,Pathogenic,-13.210285186767578,0.941181718255588,5.2,0.5737613264877321,6.5,5.7,0.8889407471215504,6.65,1.0,6.8,-1.6926490599984545,14.4,15.5,14.4,2.2,1.5316622385568452,1.9611559374164933
NM_000546.6(TP53):c.451C>G (p.Pro151Ala),TP53,28934874,RCV000459465|RCV002338981,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675161,7675161,na,na,376641,7675161,G,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro151Ala,False,151.0,151.0,P,P,A,NM_000546.6,1,0.0,Pathogenic,-9.754888534545898,1.129523848368197,15.4,0.2866824298274755,19.4,0.0,0.9786533650077244,6.549999999999999,0.999999999999999,15.4,-1.2573233461125284,2.4,0.5,0.0,10.7,1.2555231450110036,1.379722240552285
NM_000546.6(TP53):c.832C>T (p.Pro278Ser),TP53,17849781,RCV000522600|RCV000633344|RCV000562528|RCV004797610|RCV000785527|RCV004022233,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162||Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|TP53-related disorder|Ovarian neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673788,7673788,na,na,376642,7673788,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro278Ser,False,278.0,278.0,P,P,S,NM_000546.6,1,0.0,Pathogenic,-11.714608192443848,1.355885190877086,2.1,0.6667731938646135,0.0,0.3,1.018005559011136,1.35,1.0,7.6,-1.4729136384437451,0.6,4.7,0.5,4.1,1.4281244651510556,1.4555745661323356
NM_000546.6(TP53):c.832C>A (p.Pro278Thr),TP53,17849781,RCV000626445|RCV000785511|RCV002429348|RCV002524698|RCV004022234,"MedGen:CN322715|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Poly (ADP-Ribose) polymerase inhibitor response|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673788,7673788,na,na,376643,7673788,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro278Thr,False,278.0,278.0,P,P,T,NM_000546.6,1,0.0,Pathogenic,-13.983383178710938,0.8838526481254327,0.0,0.7774757805184955,0.0,0.0,0.0195821798582369,0.0,1.0,2.3,-0.8301139568285675,0.2,0.0,0.0,5.0,1.1517849815745247,1.7413883397695735
NM_000546.6(TP53):c.523C>G (p.Arg175Gly),TP53,138729528,RCV001584115|RCV000573315|RCV000459914|RCV000785486|RCV002289532|RCV004668959,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7675089,7675089,na,na,376649,7675089,G,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg175Gly,False,175.0,175.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-12.212278366088867,0.9680236082710074,18.7,0.3035350630295255,0.1,5.9,1.0070274526266578,8.600000000000001,0.999999999999996,11.3,-1.029278833267562,17.4,2.2,2.0,12.0,1.2424975511298422,1.7301902118509564
NM_000546.6(TP53):c.742C>G (p.Arg248Gly),TP53,121912651,RCV000626118|RCV000633396|RCV001026425|RCV004022238,"MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Carcinoma of colon|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674221,7674221,na,na,376652,7674221,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg248Gly,False,248.0,248.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-13.425450325012209,0.6675579156391516,0.0,0.6173672953905971,0.0,0.0,1.0583279914319403,0.0,1.0,0.0,-1.4488781235898989,0.0,0.0,0.6,0.0,0.924123427291472,0.6559342426453657
NM_000546.6(TP53):c.818G>T (p.Arg273Leu),TP53,28934576,RCV000568814|RCV000822080|RCV000785524|RCV001539823|RCV002289534|RCV002502455|RCV004668960|RCV004813095,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0019954,MedGen:C1337011,Orphanet:97253",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|not provided|Li-Fraumeni syndrome 1|12 conditions|Neoplasm|Neuroendocrine pancreatic tumor,GRCh38,NC_000017.11,17,7673802,7673802,na,na,376655,7673802,C,A,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273Leu,False,273.0,273.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-12.471074104309082,0.6644377060342452,0.0,0.5670751856970173,0.0,0.0,0.656850057200705,0.0,0.999999999999908,0.0,-0.8912211368593783,1.4,0.0,0.0,0.0,0.967239749372387,1.3460604052235376
NM_000546.6(TP53):c.817C>A (p.Arg273Ser),TP53,121913343,RCV000561782|RCV002289535|RCV000698744,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673803,7673803,na,na,376656,7673803,G,T,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273Ser,False,273.0,273.0,R,R,S,NM_000546.6,1,0.0,Pathogenic,-12.198481559753418,0.2735067854817242,11.5,0.5414131865283591,9.0,8.7,-0.2596343388153552,10.25,0.999999999999933,7.6,-1.1647428424793294,28.7,14.6,25.6,5.5,0.8269786291182495,1.0426862593936947
NM_000546.6(TP53):c.845G>C (p.Arg282Pro),TP53,730882008,RCV000492764|RCV000442220|RCV000709402|RCV002289536|RCV002502456,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions",Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|12 conditions,GRCh38,NC_000017.11,17,7673775,7673775,na,na,376659,7673775,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg282Pro,False,282.0,282.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-12.17556381225586,1.4690391285978668,0.0,0.7216654263356932,0.0,0.0,0.8923401870362286,0.0,1.0,0.0,-1.8192358750160191,0.0,0.1,0.0,0.0,1.6740761354218474,1.7339534026516563
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr),TP53,28934573,RCV002289539|RCV000785454|RCV001053974|RCV001576591|RCV002289538|RCV004668961,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Neoplasm,GRCh38,NC_000017.11,17,7674241,7674241,na,na,376663,7674241,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser241Tyr,False,241.0,241.0,S,S,Y,NM_000546.6,1,0.0,Pathogenic,-15.029972076416016,0.0900588430479137,0.0,0.3090159806692933,0.0,0.0,0.9503732956133676,0.0,0.997257483459065,1.8,-0.1641745448037185,10.8,0.0,0.0,0.0,0.3511232373735556,0.7991363242690348
NM_000546.6(TP53):c.721T>G (p.Ser241Ala),TP53,1057520002,RCV001045859|RCV002374627|RCV004022242,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674242,7674242,na,na,376665,7674242,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser241Ala,False,241.0,241.0,S,S,A,NM_000546.6,1,0.0,Pathogenic,-13.287394523620604,0.9213923462944928,7.6,0.4714771553095105,6.4,7.0,0.8421945182740141,11.25,0.999999999999952,14.9,-1.0724019304546863,25.9,15.8,22.6,4.5,1.0461123516119095,1.1445427780865491
NM_000546.6(TP53):c.374C>G (p.Thr125Arg),TP53,786201057,RCV000492090|RCV000524926|RCV002289540|RCV004719815|RCV004668962,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Neoplasm,GRCh38,NC_000017.11,17,7675995,7675995,na,na,376667,7675995,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr125Arg,False,125.0,125.0,T,T,R,NM_000546.6,1,0.0,Pathogenic,-13.694247245788574,1.104919692885739,7.0,0.452573519204011,4.4,5.6,,7.9,1.0,8.8,-1.7752387463843526,25.6,10.5,15.5,3.0,1.2220794790308869,0.7860799978225681
NM_000546.6(TP53):c.517G>T (p.Val173Leu),TP53,876660754,RCV000694763|RCV000785539|RCV002289541|RCV001821147|RCV002289542|RCV004668963,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome|Neoplasm,GRCh38,NC_000017.11,17,7675095,7675095,na,na,376668,7675095,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val173Leu,False,173.0,173.0,V,V,L,NM_000546.6,1,0.0,Pathogenic,-11.182096481323242,0.3725498565126253,0.0,0.4731358691642633,0.0,0.0,1.0644262649711351,0.0,0.999730533278415,3.5,0.0502555441081196,6.0,0.0,0.0,0.0,0.3888565990558916,0.8442754847631692
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys),TP53,1057520007,RCV000704312|RCV002356520|RCV004721353|RCV004745373|RCV004022251,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900||Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|TP53-related disorder|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674917,7674917,na,na,376681,7674917,T,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr205Cys,False,205.0,205.0,Y,Y,C,NM_000546.6,1,0.0,Pathogenic,-10.772666931152344,1.0680625024157118,6.3,0.5331170280580013,5.8,6.8,0.9505025194082464,8.25,1.0,12.9,-1.6389612580834774,14.8,9.7,20.6,4.0,1.482709395057854,1.7411044246743734
NM_000546.6(TP53):c.613T>C (p.Tyr205His),TP53,1057520008,RCV000819983|RCV000775886|RCV004022252,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674918,7674918,na,na,376685,7674918,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr205His,False,205.0,205.0,Y,Y,H,NM_000546.6,1,0.0,Pathogenic,-10.465999603271484,1.5230893284739973,18.7,0.644513020514013,10.5,10.9,1.0464193869505127,14.8,1.0,27.6,-1.0224645233368392,10.6,20.8,22.6,8.2,1.3360429083246126,1.4625748731630015
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp),TP53,1057520008,RCV000663307|RCV000462351|RCV003441853,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7674918,7674918,na,na,376686,7674918,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr205Asp,False,205.0,205.0,Y,Y,D,NM_000546.6,1,0.0,Pathogenic,-15.433515548706056,1.4582450004652692,5.3,0.6325508752391309,4.4,6.6,0.8329060839121003,9.3,1.0,12.2,-1.1364105711749977,15.8,12.0,20.0,3.3,1.4411599106040986,1.7288241601720291
NM_000546.6(TP53):c.658T>C (p.Tyr220His),TP53,530941076,RCV000566866|RCV001215103|RCV000785254|RCV003476013|RCV004022253,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian neoplasm|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7674873,7674873,na,na,376687,7674873,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr220His,False,220.0,220.0,Y,Y,H,NM_000546.6,1,0.0001,Pathogenic,-11.03500270843506,0.7760288228582642,0.4,0.596906164793439,1.1,0.0,0.5984606698963062,1.35,0.999999999999825,1.6,-0.7321172119494425,1.6,0.7,6.4,2.9,0.9861204298117224,1.4502152546274607
NM_000546.6(TP53):c.700T>C (p.Tyr234His),TP53,864622237,RCV000530551|RCV000785304|RCV000492782|RCV002289544|RCV004668964|RCV004719816,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MedGen:C3661900",Li-Fraumeni syndrome|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Neoplasm|not provided,GRCh38,NC_000017.11,17,7674263,7674263,na,na,376691,7674263,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr234His,False,234.0,234.0,Y,Y,H,NM_000546.6,1,0.0,Pathogenic,-10.132144927978516,0.5165808795206436,0.0,0.4341348491480645,0.2,0.0,0.7844700608052728,0.1,0.999999999999992,3.0,-0.9693724196564892,0.0,2.3,0.0,1.6,1.0711332147127854,1.7274463449612232
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn),TP53,864622237,RCV001025925|RCV000809457|RCV005251128,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7674263,7674263,na,na,376692,7674263,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Tyr234Asn,False,234.0,234.0,Y,Y,N,NM_000546.6,1,0.0,Pathogenic,-12.556621551513672,0.7906540854532055,0.0,0.0798763734418341,0.0,0.0,0.8689164015077033,0.0,0.999999999997887,0.5,-0.8843998226310429,0.6,3.2,0.0,0.0,1.1376671102470788,1.7379474226569875
NM_000546.6(TP53):c.760A>G (p.Ile254Val),TP53,746601313,RCV000477424|RCV000485986|RCV000573924|RCV000765398|RCV001821241|RCV004776285,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|11 conditions|MedGen:CN169374|MONDO:MONDO:0100342,MedGen:C0555198",Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|11 conditions|not specified|Malignant glioma,GRCh38,NC_000017.11,17,7674203,7674203,na,na,406605,7674203,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile254Val,False,254.0,254.0,I,I,V,NM_000546.6,1,0.0,Benign,-7.3401336669921875,-0.6225957615049429,150.3,-0.2974750398859336,87.7,122.2,-0.95941953838033,93.8,2.12107350622267e-05,82.5,0.3693481707828789,96.6,153.1,91.0,90.4,-0.2030381250922073,0.3828295570111998
NM_000546.6(TP53):c.556G>A (p.Asp186Asn),TP53,1060501206,RCV000481372|RCV000467183|RCV000571882,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675056,7675056,na,na,406601,7675056,C,T,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp186Asn,False,186.0,186.0,D,D,N,NM_000546.6,1,5.844e-05,Benign,-7.286081790924072,-0.3002959558205863,111.0,0.055206018151606,73.6,83.8,-0.8381849565851824,92.15,0.0002908055011279,92.1,0.3078830377540173,102.1,100.3,92.2,58.4,-0.1708524565441459,0.0956216239421656
NM_000546.6(TP53):c.537T>A (p.His179Gln),TP53,876660821,RCV000464573|RCV000567952|RCV001527472|RCV003159559,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Acute myeloid leukemia,GRCh38,NC_000017.11,17,7675075,7675075,na,na,406578,7675075,A,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His179Gln,False,179.0,179.0,H,H,Q,NM_000546.6,1,0.0,Pathogenic,-12.40036964416504,1.2739503958583818,37.9,0.6356439720496592,7.2,6.8,1.0450705108392044,16.799999999999997,1.0,80.3,-0.8647015802953434,28.9,11.2,19.4,14.2,1.4861215975130186,2.3197128163853318
NM_000546.6(TP53):c.464C>A (p.Thr155Asn),TP53,786202752,RCV000492645|RCV000506226|RCV000473602|RCV002269272|RCV004022603,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not specified|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675148,7675148,na,na,406564,7675148,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr155Asn,False,155.0,155.0,T,T,N,NM_000546.6,1,0.0,Pathogenic,-12.83303165435791,0.3519096647269171,7.1,0.4715824602388263,6.1,8.3,0.957189835972861,9.0,0.999977963866242,9.7,-0.0256230590216705,14.2,13.5,13.0,2.9,0.4795806416998828,1.0612092013510608
NM_000546.6(TP53):c.329G>T (p.Arg110Leu),TP53,11540654,RCV000473145|RCV000492590|RCV000785348|RCV002289602|RCV005230382|RCV004999438|RCV004000748,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MedGen:C3661900|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Ovarian neoplasm|Li-Fraumeni syndrome 1|Neoplasm|not provided|Adrenal cortex carcinoma,GRCh38,NC_000017.11,17,7676040,7676040,na,na,406597,7676040,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg110Leu,False,110.0,110.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-8.705000877380371,0.1586580044797304,19.7,0.2931851921657153,7.9,14.1,,12.55,0.931493393492212,19.4,0.021620520254249,20.2,8.9,9.1,11.0,0.2532299876668382,0.6226524787750332
NM_000546.6(TP53):c.313G>C (p.Gly105Arg),TP53,1060501195,RCV000475325|RCV000492606|RCV002289594,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7676056,7676056,na,na,406574,7676056,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly105Arg,False,105.0,105.0,G,G,R,NM_000546.6,1,0.0,Pathogenic,-11.354548454284668,0.8889216829609272,16.7,0.5234670606698528,6.8,3.5,,13.65,0.999999999999395,51.3,-1.0874220755288162,14.0,9.1,13.3,16.0,0.8858852030783071,0.681311850745178
NM_000546.6(TP53):c.1151T>C (p.Met384Thr),TP53,1060501196,RCV000462881|RCV000566404|RCV000662831|RCV004999437|RCV005256610,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|not specified|not provided,GRCh38,NC_000017.11,17,7669640,7669640,na,na,406575,7669640,A,G,0.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met384Thr,False,384.0,384.0,M,M,T,NM_000546.6,1,0.0,Benign,-1.06805157661438,-1.6187950760231666,100.9,0.173666073055432,61.7,94.9,,88.75,2.49698535506837e-08,102.5,0.7082966033806306,84.5,70.5,93.0,69.0,-0.8145606662877891,-0.11659031945957
NM_000546.6(TP53):c.843C>A (p.Asp281Glu),TP53,1057519984,RCV000470818|RCV000499361|RCV000658764|RCV000785325|RCV002446795|RCV005230381,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Li-Fraumeni syndrome|Carcinoma of colon|not provided|Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Neoplasm,GRCh38,NC_000017.11,17,7673777,7673777,na,na,406568,7673777,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp281Glu,False,281.0,281.0,D,D,E,NM_000546.6,1,0.0,Pathogenic,-12.285653114318848,-0.1230843548224003,3.0,0.4106612836092185,3.2,1.9,1.0466043002444132,2.8,0.999815429306235,2.9,-0.5580871825638001,2.7,5.9,1.2,0.8,0.2189397357138056,0.2218163794000174
NM_000546.6(TP53):c.875A>G (p.Lys292Arg),TP53,121912663,RCV000457955|RCV000573281,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673745,7673745,na,na,406577,7673745,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Lys292Arg,False,292.0,292.0,K,K,R,NM_000546.6,1,0.0,Benign,-3.78948712348938,-0.0864070605357618,136.1,0.0460494029986531,81.4,145.5,1.0698236450149294,130.3,0.0015926697376121,217.7,0.2230098588725167,124.5,151.7,114.4,96.0,-0.0705913695477277,0.0976428107650953
NM_000546.6(TP53):c.853G>A (p.Glu285Lys),TP53,112431538,RCV000479542|RCV000492206|RCV000633365|RCV002289628|RCV004668993|RCV000626449,"MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MedGen:CN322715",not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm|Poly (ADP-Ribose) polymerase inhibitor response,GRCh38,NC_000017.11,17,7673767,7673767,na,na,420133,7673767,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu285Lys,False,285.0,285.0,E,E,K,NM_000546.6,1,0.0,Pathogenic,-11.691356658935549,1.00729131354691,4.7,0.6360042492424549,4.0,3.5,0.9237309142953662,4.35,1.0,4.9,-1.49488273178482,0.9,7.4,1.9,5.2,1.4484962395192962,1.8433146732261592
NM_000546.6(TP53):c.749C>T (p.Pro250Leu),TP53,1064794311,RCV001026502|RCV000479937|RCV000547538|RCV004668994,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Neoplasm,GRCh38,NC_000017.11,17,7674214,7674214,na,na,420136,7674214,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro250Leu,False,250.0,250.0,P,P,L,NM_000546.6,1,0.0,Pathogenic,-11.31348705291748,0.9078916219312008,10.2,0.8468900543998796,5.4,0.5,0.886491440537413,4.15,1.0,11.6,-0.6377402146472839,0.0,1.5,2.9,14.5,1.0759446846881051,1.6822022174858309
NM_000546.6(TP53):c.569C>T (p.Pro190Leu),TP53,876660825,RCV000484792|RCV000551566|RCV002350050|RCV001527084,"MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674962,7674962,na,na,418517,7674962,G,A,1.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro190Leu,False,190.0,190.0,P,P,L,NM_000546.6,1,0.0,Pathogenic,-8.013710975646973,1.1477515850035072,31.6,0.4463143251463628,26.3,23.5,0.9722793334531395,25.3,1.0,32.2,-1.4349097445100274,16.7,21.5,25.7,24.9,1.2460425939344786,1.1554664522899016
NM_000546.6(TP53):c.521G>A (p.Arg174Lys),TP53,1064796681,RCV000478775,MedGen:CN517202,not provided,GRCh38,NC_000017.11,17,7675091,7675091,na,na,423887,7675091,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg174Lys,False,174.0,174.0,R,R,K,NM_000546.6,1,0.0,Benign,-6.6142425537109375,-0.4414540738191261,183.1,0.0767622512306638,73.3,102.6,0.8542718512252615,101.95,6.62731068398488e-05,104.9,0.4009328403803396,108.6,81.7,101.3,88.6,-0.2733645580125864,0.0222932401617063
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp),TP53,730882028,RCV000492343|RCV002289665,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7670709,7670709,na,na,428876,7670709,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly334Trp,False,334.0,334.0,G,G,W,NM_000546.6,1,0.0,Pathogenic,-13.306844711303713,0.2219845104709242,53.6,-0.2707870258923948,39.8,43.1,,41.45,0.0066024453407078,49.4,-0.0885275392033736,35.3,27.6,43.3,31.0,-0.1767423033166257,-0.840738959624175
NM_000546.6(TP53):c.930C>G (p.Asn310Lys),TP53,876660829,RCV000492463,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673598,7673598,na,na,428879,7673598,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn310Lys,False,310.0,310.0,N,N,K,NM_000546.6,1,2.338e-05,Benign,-5.450753211975098,-0.1643869679780072,168.0,-0.3026634583985019,105.0,154.6,,122.5,8.55171608736704e-06,133.3,0.4904486598396758,114.3,130.7,58.4,67.2,-0.3231820485137754,-0.3147105177236433
NM_000546.6(TP53):c.883C>T (p.Pro295Ser),TP53,1131691006,RCV000492128|RCV000991138,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673737,7673737,na,na,428862,7673737,G,A,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro295Ser,False,295.0,295.0,P,P,S,NM_000546.6,1,0.0,Benign,-3.3022868633270264,-0.0764174279482279,167.3,0.1549123405800145,107.1,98.1,1.0712951435472688,133.75,0.0764651570638192,218.3,0.3649797551733589,111.4,162.7,156.1,96.2,0.1063672804546434,0.7604990244855171
NM_000546.6(TP53):c.392A>T (p.Asn131Ile),TP53,1131691037,RCV000492742|RCV002289677|RCV000821569,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675220,7675220,na,na,428902,7675220,T,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn131Ile,False,131.0,131.0,N,N,I,NM_000546.6,1,0.0,Pathogenic,-12.697381019592283,1.1490776366472302,8.1,0.0116770518135567,7.8,10.5,0.9269367913810416,9.3,0.999999999999976,6.4,-1.1383729257540758,16.3,12.0,19.8,5.3,1.29993675569815,1.6123597046931444
NM_000546.6(TP53):c.389T>C (p.Leu130Pro),TP53,1131691013,RCV000492142|RCV002475970,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|12 conditions",Hereditary cancer-predisposing syndrome|12 conditions,GRCh38,NC_000017.11,17,7675223,7675223,na,na,428873,7675223,A,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu130Pro,False,130.0,130.0,L,L,P,NM_000546.6,1,0.0,Pathogenic,-11.924015045166016,1.404719414411609,5.3,0.3064613816915622,6.8,9.3,0.9824214512592616,8.05,0.999999999999976,4.9,-1.261409830690064,16.7,11.2,19.5,3.6,1.1800620742757897,0.8740569777256958
NM_000546.6(TP53):c.313G>A (p.Gly105Ser),TP53,1060501195,RCV000492331|RCV001379190|RCV002289669|RCV004003474,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Adrenal cortex carcinoma,GRCh38,NC_000017.11,17,7676056,7676056,na,na,428884,7676056,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly105Ser,False,105.0,105.0,G,G,S,NM_000546.6,1,0.0,Pathogenic,-10.092442512512209,-0.2042874186098524,28.2,0.2185549440114809,9.4,7.3,,15.0,0.225874732389056,36.7,0.014440427969515,9.2,14.4,20.1,15.6,0.0826205173791216,0.4665893987167326
NM_000546.6(TP53):c.596G>T (p.Gly199Val),TP53,1555525857,RCV000522967,MedGen:CN517202,not provided,GRCh38,NC_000017.11,17,7674935,7674935,na,na,451799,7674935,C,A,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly199Val,False,199.0,199.0,G,G,V,NM_000546.6,1,0.0,Pathogenic,-12.697505950927734,0.7669280084979034,3.5,0.5155179058212527,2.4,0.0,0.7060168238923212,1.95,0.999999984508857,6.6,-0.5530560509436369,0.3,1.5,0.0,2.6,0.6887274402877367,0.7461982614216697
NM_000546.6(TP53):c.731G>C (p.Gly244Ala),TP53,985033810,RCV000548437|RCV001255675|RCV004023789|RCV002384069,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674232,7674232,na,na,458560,7674232,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly244Ala,False,244.0,244.0,G,G,A,NM_000546.6,1,0.0,Pathogenic,-8.465572357177734,0.5791856101680944,0.0,0.4759742539932758,0.0,0.0,0.9817206080542296,0.0,1.0,35.6,-1.3912687281391816,0.0,0.3,0.0,0.0,1.0865452252472816,1.289181337434569
NM_000546.6(TP53):c.476C>T (p.Ala159Val),TP53,1555526131,RCV000527533|RCV002341276|RCV004669032|RCV001764539|RCV003476227|RCV004023788,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm|not provided|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7675136,7675136,na,na,458545,7675136,G,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala159Val,False,159.0,159.0,A,A,V,NM_000546.6,1,0.0,Pathogenic,-8.021974563598633,0.6753276534441146,18.5,0.905568702263066,16.7,10.0,0.9838416409185524,16.25,1.0,15.8,-1.0519584124026116,11.4,26.4,23.4,10.8,1.1555644263270777,1.7394072131345055
NM_000546.6(TP53):c.530C>G (p.Pro177Arg),TP53,751477326,RCV000540639|RCV000565979|RCV002289734|RCV000582953,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|not provided,GRCh38,NC_000017.11,17,7675082,7675082,na,na,458547,7675082,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro177Arg,False,177.0,177.0,P,P,R,NM_000546.6,1,0.0,Pathogenic,-10.009352684020996,0.4142096803214511,9.2,0.6331517262295494,8.3,5.9,1.0292477510081717,11.95,1.0,84.6,-1.5143348854980896,29.5,14.7,17.7,2.7,1.1928436606502382,1.6499864161311737
NM_000546.6(TP53):c.796G>A (p.Gly266Arg),TP53,1057519990,RCV000785497|RCV000528667|RCV001027016|RCV004568751|RCV002289744|RCV004772959|RCV004669033,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651","Ovarian neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1|not provided|Neoplasm",GRCh38,NC_000017.11,17,7673824,7673824,na,na,458566,7673824,C,T,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly266Arg,False,266.0,266.0,G,G,R,NM_000546.6,1,0.0,Pathogenic,-12.002130508422852,1.0106595380668333,8.5,0.5143481801676628,8.4,10.5,0.8032742896943321,12.25,1.0,14.0,-1.2200482669774009,17.8,16.7,19.3,5.1,1.2699519878726644,1.5791481585737597
NM_000546.6(TP53):c.1153T>C (p.Phe385Leu),TP53,1555524094,RCV000561658,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669638,7669638,na,na,485029,7669638,A,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe385Leu,False,385.0,385.0,F,F,L,NM_000546.6,1,0.0,Benign,-1.5709315538406372,-1.1058051977541763,104.4,0.0649891658441725,74.8,95.5,,80.65,5.62816733138849e-07,125.2,0.5885440744981889,77.5,58.8,83.2,78.1,-0.539782356339914,0.0750022032326231
NM_000546.6(TP53):c.737T>A (p.Met246Lys),TP53,587780074,RCV000574219|RCV000797952|RCV002289798,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674226,7674226,na,na,480764,7674226,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met246Lys,False,246.0,246.0,M,M,K,NM_000546.6,1,0.0,Pathogenic,-12.317081451416016,0.6185459516825967,0.0,0.0255117232560371,0.0,0.0,0.6658043219903687,0.0,1.0,0.7,-1.110200343831636,0.0,0.0,0.5,0.0,1.3394883321675737,2.2897187009884883
NM_000546.6(TP53):c.825T>G (p.Cys275Trp),TP53,1555525279,RCV000561423|RCV000785448,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267",Hereditary cancer-predisposing syndrome|Ovarian neoplasm,GRCh38,NC_000017.11,17,7673795,7673795,na,na,485044,7673795,A,C,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys275Trp,False,275.0,275.0,C,C,W,NM_000546.6,1,0.0,Pathogenic,-14.250255584716797,1.1883370391765191,0.0,0.6780696934907258,0.0,0.0,1.0873251653109108,0.0,1.0,0.0,-1.5857366574676313,1.2,0.0,0.0,0.0,1.5721058355219018,1.9422438099215549
NM_000546.6(TP53):c.738G>A (p.Met246Ile),TP53,1019340046,RCV000561491|RCV000633390|RCV005231087|RCV003483672,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm|Hereditary breast ovarian cancer syndrome,GRCh38,NC_000017.11,17,7674225,7674225,na,na,480961,7674225,C,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met246Ile,False,246.0,246.0,M,M,I,NM_000546.6,1,0.0,Pathogenic,-5.740917205810547,-0.0001027246491612,0.0,0.1641513883005536,0.0,0.0,1.0487527321843082,0.0,0.888839415841631,142.9,-0.1516565703459354,0.5,0.0,0.0,2.0,0.2644741508236991,0.6418686067743232
NM_000546.6(TP53):c.400T>A (p.Phe134Ile),TP53,267605077,RCV000565274|RCV004024466,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675212,7675212,na,na,480953,7675212,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe134Ile,False,134.0,134.0,F,F,I,NM_000546.6,1,0.0,Pathogenic,-9.60800552368164,0.6959782061548914,6.5,0.7151002346943787,7.4,9.2,0.9977969224833988,8.3,1.0,7.3,-1.0751657868793412,17.8,13.8,18.5,3.8,1.2028850645482827,1.837511200610616
NM_000546.6(TP53):c.21T>G (p.Asp7Glu),TP53,587781277,RCV000574520,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676574,7676574,na,na,485049,7676574,A,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp7Glu,False,7.0,7.0,D,D,E,NM_000546.6,1,0.0,Benign,-2.7639331817626958,-0.8197619122877338,111.9,-0.0137551717828483,65.0,89.2,,90.6,1.60473922186588e-06,121.9,0.4373529943117314,85.9,116.5,92.0,74.1,-0.4711029297916578,-0.1561938827755082
NM_000546.6(TP53):c.532C>G (p.His178Asp),TP53,1064795203,RCV000575494|RCV000633339|RCV002254704,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675080,7675080,na,na,482223,7675080,G,C,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His178Asp,False,178.0,178.0,H,H,D,NM_000546.6,1,0.0,Pathogenic,-10.02176570892334,-0.0271806180660195,7.1,0.3118648294368038,6.2,5.4,0.9412136776694648,7.55,0.999999999999434,8.0,-1.3140630142475451,22.1,12.4,18.4,3.1,0.7897408022414979,1.082340010542968
NM_000546.6(TP53):c.473G>T (p.Arg158Leu),TP53,587782144,RCV000633348|RCV001091169|RCV002289923|RCV002289922,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675139,7675139,na,na,528248,7675139,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg158Leu,False,158.0,158.0,R,R,L,NM_000546.6,1,0.0,Pathogenic,-11.8883056640625,0.9025110266442462,25.0,0.8353838697611922,15.3,11.7,0.9449295275335498,14.4,0.999999999999978,19.6,-0.8283464732728202,13.5,13.2,22.0,12.8,0.8218120262481535,0.7345785788273944
NM_000546.6(TP53):c.534C>A (p.His178Gln),TP53,1555526001,RCV000698003|RCV001023959|RCV002307599,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome,GRCh38,NC_000017.11,17,7675078,7675078,na,na,575702,7675078,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His178Gln,False,178.0,178.0,H,H,Q,NM_000546.6,1,0.0,Pathogenic,-7.150981903076172,-0.4408663768348989,35.8,0.1179121774400666,10.5,7.4,1.0308833681464065,16.450000000000003,0.0044911357034526,81.4,0.0322290420644679,25.2,15.9,16.8,16.1,-0.096274673735644,0.1842713976924348
NM_000546.6(TP53):c.814G>C (p.Val272Leu),TP53,121912657,RCV000696673|RCV002422533,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673806,7673806,na,na,574679,7673806,C,G,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val272Leu,False,272.0,272.0,V,V,L,NM_000546.6,1,0.0,Pathogenic,-9.02137279510498,0.5446148388933147,41.4,0.5510978878890032,22.2,14.6,0.4887802947114076,18.8,0.99999999999959,22.6,-0.8190950439009037,11.7,19.6,18.0,17.2,0.9270670826752784,1.417491365231616
NM_000546.6(TP53):c.718A>G (p.Ser240Gly),TP53,1567549584,RCV002289987|RCV000709404|RCV000989712|RCV002289986,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674245,7674245,na,na,584921,7674245,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser240Gly,False,240.0,240.0,S,S,G,NM_000546.6,1,0.0,Pathogenic,-7.49850606918335,0.5949259990452804,42.2,0.3465237585400769,17.6,7.2,0.7390547294993937,12.6,0.999999906619974,116.3,-0.488413820683824,3.2,7.6,0.7,44.3,0.7382917996891166,1.1315355793382451
NM_000546.6(TP53):c.840A>C (p.Arg280Ser),TP53,1567547687,RCV000785449|RCV002442608|RCV004027346,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673780,7673780,na,na,634747,7673780,T,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg280Ser,False,280.0,280.0,R,R,S,NM_000546.6,1,0.0,Pathogenic,-13.144777297973633,0.3473948412320104,9.1,0.5615236185670593,7.2,10.6,0.2753722432132234,11.85,0.999999999999977,13.1,-1.1808299880110953,33.9,17.9,21.7,5.6,0.8542501597727888,1.034525650075261
NM_000546.6(TP53):c.817C>G (p.Arg273Gly),TP53,121913343,RCV000785275|RCV000814073|RCV001027249|RCV002290030|RCV002487616|RCV005231327|RCV004797622,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|",Ovarian neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|12 conditions|Neoplasm|TP53-related disorder,GRCh38,NC_000017.11,17,7673803,7673803,na,na,634682,7673803,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg273Gly,False,273.0,273.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-11.432817459106444,1.2663177839544064,10.3,0.7997444425283378,8.0,8.2,0.7603976482216233,9.25,1.0,6.4,-1.5832722132396362,27.6,13.5,21.8,3.8,1.5482557872273282,1.7951773644879423
NM_000546.6(TP53):c.711G>T (p.Met237Ile),TP53,587782664,RCV000785508|RCV002370058|RCV003332249|RCV003472321|RCV003509608,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524","Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome",GRCh38,NC_000017.11,17,7674252,7674252,na,na,634770,7674252,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met237Ile,False,237.0,237.0,M,M,I,NM_000546.6,1,0.0,Pathogenic,-8.383350372314453,0.7486830787996694,0.0,0.7834683365917856,0.0,0.0,0.9768936529296892,0.35,0.999999999999993,2.2,-0.6699115424939838,0.7,2.6,11.5,0.0,0.9447717695843127,1.4157206874592851
NM_000546.6(TP53):c.695T>G (p.Ile232Ser),TP53,587781589,RCV000785478|RCV002360902,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Ovarian neoplasm|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674268,7674268,na,na,634756,7674268,A,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile232Ser,False,232.0,232.0,I,I,S,NM_000546.6,1,0.0,Pathogenic,-14.706050872802734,1.1555527597725523,0.0,0.5318927901548978,0.0,0.0,0.9515543887021372,0.0,1.0,1.3,-1.391751982368839,0.0,2.8,0.0,0.0,1.3523530200779483,1.5097543180924544
NM_000546.6(TP53):c.467G>C (p.Arg156Pro),TP53,371524413,RCV000785506|RCV001022886|RCV002536879|RCV004777866,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Ovarian neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7675145,7675145,na,na,634768,7675145,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg156Pro,False,156.0,156.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-12.334707260131836,1.5896821088421207,7.8,0.4765395238721379,6.6,6.4,0.9905435074998168,7.199999999999999,0.999999999999999,6.4,-0.9430813981716598,13.6,13.4,13.0,2.6,1.3609767967457242,1.5501668832233917
NM_000546.6(TP53):c.396G>T (p.Lys132Asn),TP53,866775781,RCV000785513|RCV000795096|RCV003238212|RCV004027350,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Ovarian neoplasm|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675216,7675216,na,na,634773,7675216,C,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Lys132Asn,False,132.0,132.0,K,K,N,NM_000546.6,1,0.0,Pathogenic,-13.816622734069824,0.8498711787174907,4.6,0.5650869189959358,6.1,8.4,0.9989853505319368,7.25,0.999999999977567,5.0,-0.5825166209190286,17.3,12.9,17.8,3.2,0.9014182509251136,1.2718669531388211
NM_000546.6(TP53):c.338T>G (p.Phe113Cys),TP53,1567555667,RCV000785288|RCV001318208,"Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Ovarian neoplasm|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676031,7676031,na,na,634690,7676031,A,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe113Cys,False,113.0,113.0,F,F,C,NM_000546.6,1,0.0,Pathogenic,-12.703774452209473,0.907513027883496,15.8,0.7425843977549089,5.2,9.2,,10.1,1.0,13.6,-1.2033039079294825,20.7,9.2,10.3,9.9,1.2123538841014725,1.5262447164914383
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr),TP53,730881999,RCV001527086|RCV000813247|RCV002352420,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675232,7675232,na,na,656751,7675232,G,T,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser127Tyr,False,127.0,127.0,S,S,Y,NM_000546.6,1,0.0,Pathogenic,-14.749942779541016,0.5345238882845573,7.0,0.425554586643518,4.1,11.5,0.3372438803564523,9.75,0.999988472588857,8.0,-0.2002362931113391,22.8,14.2,18.9,6.9,0.5478393969903653,0.9087580095751996
NM_000546.6(TP53):c.428T>C (p.Val143Ala),TP53,1555526241,RCV000991143|RCV004030120|RCV005286262,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675184,7675184,na,na,804214,7675184,A,G,1.0,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val143Ala,False,143.0,143.0,V,V,A,NM_000546.6,1,0.0,Pathogenic,-9.933659553527832,0.96081110849128,6.9,0.4165888357585572,9.1,9.8,0.992813130328992,11.05,0.999999999995185,18.8,-0.9530331741988296,18.7,12.3,22.6,5.8,0.9730090091559038,1.005182744777602
NM_000546.6(TP53):c.788A>G (p.Asn263Ser),TP53,1597362411,RCV001026915,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673832,7673832,na,na,827313,7673832,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn263Ser,False,263.0,263.0,N,N,S,NM_000546.6,1,0.0,Benign,-7.291773796081543,0.0498664659900165,113.5,-0.0797782797197508,123.1,107.4,1.1099732366822834,93.0,0.000282625512505,56.2,0.4749790636909261,78.6,123.4,29.6,67.9,-0.0799353784260157,0.1853064624228624
NM_000546.6(TP53):c.757A>G (p.Thr253Ala),TP53,1597364185,RCV001026581|RCV002551972,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674206,7674206,na,na,827132,7674206,T,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr253Ala,False,253.0,253.0,T,T,A,NM_000546.6,1,0.0,Pathogenic,-8.625066757202148,0.128704534349365,20.7,0.2305740238647429,17.0,17.2,0.8557739685552009,17.1,0.999996080901719,16.4,-0.4848775485592869,4.3,38.1,8.1,22.2,0.5925744316412888,1.164141212015214
NM_000546.6(TP53):c.542G>C (p.Arg181Pro),TP53,397514495,RCV001206963|RCV002290550|RCV001024094,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675070,7675070,na,na,825729,7675070,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg181Pro,False,181.0,181.0,R,R,P,NM_000546.6,1,0.0,Pathogenic,-8.841529846191406,1.18162619632831,11.7,0.177977999599068,8.7,7.2,1.0190633092153163,14.2,1.0,23.1,-1.5838243974492188,23.3,16.7,22.9,5.0,1.2274443805253277,0.916882547798454
NM_000546.6(TP53):c.455C>G (p.Pro152Arg),TP53,587782705,RCV001022693|RCV001383776|RCV002290546,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675157,7675157,na,na,824998,7675157,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro152Arg,False,152.0,152.0,P,P,R,NM_000546.6,1,0.0,Pathogenic,-11.723648071289062,1.0180143683833311,17.4,0.3974645633958849,7.6,12.8,0.9303385516547223,14.4,0.999999999999998,20.9,-1.457973790324517,16.3,14.4,14.4,7.4,1.0183942355631297,0.5791945479815411
NM_000546.6(TP53):c.389T>A (p.Leu130His),TP53,1131691013,RCV001021383,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675223,7675223,na,na,824351,7675223,A,T,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu130His,False,130.0,130.0,L,L,H,NM_000546.6,1,0.0,Pathogenic,-12.396198272705078,0.8358985887832349,11.6,-0.0379175187717863,11.0,13.9,0.6063453924891484,13.3,0.999999980155099,9.3,-0.5322832349976969,16.1,15.4,19.9,12.7,0.976179799054611,1.5603575733829014
NM_000546.6(TP53):c.176G>A (p.Gly59Asp),TP53,1597374828,RCV001013094|RCV001356293,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142",Hereditary cancer-predisposing syndrome|Malignant tumor of breast,GRCh38,NC_000017.11,17,7676193,7676193,na,na,820048,7676193,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly59Asp,False,59.0,59.0,G,G,D,NM_000546.6,1,0.0,Benign,-4.973418235778809,-0.5700292929536849,133.0,-0.1819939476570558,80.9,92.8,,87.5,4.09349944074463e-07,103.0,0.7219509035817052,89.2,85.8,73.7,84.0,-0.5438426160088098,-0.3395476514910392
NM_000546.6(TP53):c.85A>G (p.Asn29Asp),TP53,1597375899,RCV001018048,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676393,7676393,na,na,822586,7676393,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn29Asp,False,29.0,29.0,N,N,D,NM_000546.6,1,0.0,Benign,-1.694394826889038,-0.4148380915854153,99.3,0.0076587659802564,88.8,109.2,,104.25,0.0001162178361457,159.8,0.1583032171112864,126.7,109.5,91.5,95.0,-0.2807749016063866,-0.2691833961224581
NM_000546.6(TP53):c.761T>A (p.Ile254Asn),TP53,1330865474,RCV001061736|RCV004950217|RCV004030433,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674202,7674202,na,na,856299,7674202,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile254Asn,False,254.0,254.0,I,I,N,NM_000546.6,1,0.0,Pathogenic,-11.700963020324709,0.6809895243377467,16.3,-0.0210390355619382,8.8,7.5,1.0014886576213928,13.25,1.0,22.1,-1.5895218585845623,10.2,16.8,24.1,8.0,1.217576787187665,1.382218978640686
NM_000546.6(TP53):c.695T>A (p.Ile232Asn),TP53,587781589,RCV001054089,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674268,7674268,na,na,850008,7674268,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile232Asn,False,232.0,232.0,I,I,N,NM_000546.6,1,0.0,Pathogenic,-14.761554718017578,1.1668003372264792,0.0,0.0606638516324233,0.8,0.0,1.0005341399479375,1.0,0.999999999994173,3.0,-0.7999142235922199,1.2,4.0,0.0,1.2,1.2138858204559588,1.6749429005491776
NM_000546.6(TP53):c.472C>G (p.Arg158Gly),TP53,587780068,RCV001061572,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675140,7675140,na,na,856171,7675140,G,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg158Gly,False,158.0,158.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-12.272738456726074,1.2504935015364058,15.0,0.5737833959779637,4.6,6.8,0.997512922583591,11.9,1.0,14.0,-1.6493962034878586,16.4,9.8,16.8,5.7,1.537046873158326,1.7112509144507135
NM_000546.6(TP53):c.470T>G (p.Val157Gly),TP53,1131691023,RCV001170827|RCV004032925|RCV004032926,"MedGen:CN221562|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Breast and/or ovarian cancer|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675142,7675142,na,na,915695,7675142,A,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val157Gly,False,157.0,157.0,V,V,G,NM_000546.6,1,0.0,Pathogenic,-14.929558753967283,0.4304822468675893,7.6,0.4506513527886333,6.4,7.7,1.0217944104094172,7.65,0.999999999063569,7.0,-0.5346628964998573,14.6,11.7,16.5,2.1,0.7879831157812812,1.3988042039763973
NM_000546.6(TP53):c.534C>G (p.His178Gln),TP53,1555526001,RCV001218247|RCV002348728,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675078,7675078,na,na,947223,7675078,G,C,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His178Gln,False,178.0,178.0,H,H,Q,NM_000546.6,1,0.0,Pathogenic,-7.150981903076172,-0.4408663768348989,35.8,0.1179121774400666,10.5,7.4,1.0308833681464065,16.450000000000003,0.0044911357034526,81.4,0.0322290420644679,25.2,15.9,16.8,16.1,-0.096274673735644,0.1842713976924348
NM_000546.6(TP53):c.379T>C (p.Ser127Pro),TP53,1597371694,RCV001202791|RCV002365911|RCV004671246|RCV004033549,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7675233,7675233,na,na,934410,7675233,A,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser127Pro,False,127.0,127.0,S,S,P,NM_000546.6,1,0.0,Pathogenic,-12.812596321105955,0.944569238331912,6.5,0.0654379876214144,3.8,2.6,0.9723851975478554,6.6,0.999999999989523,6.7,-1.1611414242684046,16.9,9.0,16.2,2.3,1.037493135561291,1.0067687440835569
NM_000546.6(TP53):c.794T>A (p.Leu265Gln),TP53,879253942,RCV002418782|RCV005232191|RCV001225765,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673826,7673826,na,na,953467,7673826,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu265Gln,False,265.0,265.0,L,L,Q,NM_000546.6,1,0.0,Pathogenic,-9.753933906555176,0.4930359773025498,1.4,0.1261589682300943,3.4,0.0,0.636582132852842,0.3,0.99999991515088,2.2,-0.8225014007016891,0.0,0.6,0.0,0.0,0.7417293442340442,0.909650654697894
NM_000546.6(TP53):c.721T>A (p.Ser241Thr),TP53,1057520002,RCV001232537|RCV004033172,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674242,7674242,na,na,959232,7674242,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser241Thr,False,241.0,241.0,S,S,T,NM_000546.6,1,0.0,Pathogenic,-11.026578903198242,0.4452865603981028,0.0,0.0804373046637547,0.0,0.0,0.8595138125111503,0.0,0.999999662624753,23.8,-0.8508336917212368,0.0,0.0,3.0,0.0,0.6845588457662847,0.7575562851795145
NM_000546.6(TP53):c.476C>A (p.Ala159Asp),TP53,1555526131,RCV001326770|RCV003483816|RCV004035219,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524","Li-Fraumeni syndrome|Prostate cancer, hereditary, 1|Li-Fraumeni syndrome 1",GRCh38,NC_000017.11,17,7675136,7675136,na,na,1026335,7675136,G,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala159Asp,False,159.0,159.0,A,A,D,NM_000546.6,1,0.0,Pathogenic,-16.237239837646484,0.064029328133602,7.2,0.2990160065365437,7.7,6.7,0.9994710635532892,7.45,0.534218703787378,5.4,0.115511358034561,16.8,15.1,19.3,2.0,0.1280747439195171,0.4357062616595104
NM_000546.6(TP53):c.472C>A (p.Arg158Ser),TP53,587780068,RCV001379294,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675140,7675140,na,na,1067910,7675140,G,T,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg158Ser,False,158.0,158.0,R,R,S,NM_000546.6,1,0.0,Pathogenic,-11.69461441040039,-0.4921047916595453,61.5,0.1064558635343779,18.1,7.8,0.1952785738473588,12.95,0.0009981850902972,60.1,0.2533732980280484,5.4,0.0,2.6,21.7,-0.1248888625874077,0.3708115019253704
NM_000546.6(TP53):c.866T>C (p.Leu289Pro),TP53,2151014987,RCV001527090,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7673754,7673754,na,na,1172923,7673754,A,G,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu289Pro,False,289.0,289.0,L,L,P,NM_000546.6,1,0.0,Benign,-8.043514251708984,-0.1390628260528675,110.0,0.0804415729217402,63.0,80.2,1.035922044850461,75.45,0.0010309180333583,249.1,0.6447465991627886,33.6,115.7,46.5,70.7,-0.0880211435627394,0.519745994527438
NM_000546.6(TP53):c.751A>T (p.Ile251Phe),TP53,730882007,RCV002043568,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7674212,7674212,na,na,1518844,7674212,T,A,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile251Phe,False,251.0,251.0,I,I,F,NM_000546.6,1,0.0,Pathogenic,-14.518073081970217,0.1445779003384399,1.2,-0.015775650138895,0.0,0.0,0.935534852138244,0.0,0.99999930520273,47.2,-0.7505170047941743,0.0,0.0,0.0,5.8,0.6847270802167092,1.1590863355175134
NM_000546.6(TP53):c.337T>A (p.Phe113Ile),TP53,587781642,RCV001994985,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676032,7676032,na,na,1469551,7676032,A,T,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe113Ile,False,113.0,113.0,F,F,I,NM_000546.6,1,0.0,Pathogenic,-13.056900024414062,0.4355226762246187,7.2,-0.0228969225894488,3.3,5.1,,7.9,0.424083604549748,17.9,0.0712000312876881,16.7,6.7,8.6,9.5,0.3280645013119554,0.6198708589989358
NM_000546.6(TP53):c.1164A>T (p.Glu388Asp),TP53,-1,RCV002323174,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669627,7669627,na,na,1737684,7669627,T,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu388Asp,False,388.0,388.0,E,E,D,NM_000546.6,1,0.0,Benign,-6.767846584320068,-1.4955806191248775,154.5,-0.2049998434417199,75.6,87.0,,97.6,6.62175486785976e-10,177.7,1.0177445075589853,101.6,68.8,118.3,93.6,-1.0289239634606753,-0.5734467636981624
NM_000546.6(TP53):c.386C>A (p.Ala129Asp),TP53,-1,RCV002355590,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675226,7675226,na,na,1735669,7675226,G,T,0.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala129Asp,False,129.0,129.0,A,A,D,NM_000546.6,1,0.0,Benign,-4.043981552124023,-0.1216619102699577,148.4,0.1695010379117369,63.6,86.0,-1.136602990547444,92.0,0.0007982500217424,69.5,0.4770531632822991,85.7,104.4,98.0,101.4,-0.1715689551361893,0.0840082081436889
NM_000546.6(TP53):c.1162G>C (p.Glu388Gln),TP53,-1,RCV002321210,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669629,7669629,na,na,1737291,7669629,C,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu388Gln,False,388.0,388.0,E,E,Q,NM_000546.6,1,0.0,Benign,-6.565489768981934,-1.759991355831922,190.2,-0.1868329103000412,102.3,136.8,,119.1,1.8687223729757002e-10,187.3,0.9539724685823128,87.0,125.3,109.3,112.9,-1.0084640238645852,-0.3114282471795208
NM_000546.6(TP53):c.1155C>A (p.Phe385Leu),TP53,-1,RCV002363969,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669636,7669636,na,na,1735082,7669636,G,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe385Leu,False,385.0,385.0,F,F,L,NM_000546.6,1,0.0,Benign,-1.5709315538406372,-1.1058051977541763,104.4,0.0649891658441725,74.8,95.5,,80.65,5.62816733138849e-07,125.2,0.5885440744981889,77.5,58.8,83.2,78.1,-0.539782356339914,0.0750022032326231
NM_000546.6(TP53):c.512A>G (p.Glu171Gly),TP53,-1,RCV002338161,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675100,7675100,na,na,1745525,7675100,T,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu171Gly,False,171.0,171.0,E,E,G,NM_000546.6,1,0.0,Pathogenic,-10.5537109375,0.745553390578152,0.0,0.1021180222874527,0.0,0.0,0.9858498884808764,0.0,0.998832659576691,0.0,-0.3097605362376593,5.3,0.0,0.0,0.0,0.5607130617536688,0.6268252584451948
NM_000546.6(TP53):c.622G>A (p.Asp208Asn),TP53,-1,RCV002366565,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674909,7674909,na,na,1752332,7674909,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp208Asn,False,208.0,208.0,D,D,N,NM_000546.6,1,0.0,Benign,-11.132384300231934,0.0498273219537988,183.4,0.0312673638038845,77.4,84.2,-0.9513115076328807,83.1,0.0015854169826698,81.6,0.2904293989070683,83.7,189.6,77.9,82.5,-0.0481723833924722,0.0960849267758526
NM_000546.6(TP53):c.653T>A (p.Val218Glu),TP53,-1,RCV002364323|RCV004054380,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524",Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1,GRCh38,NC_000017.11,17,7674878,7674878,na,na,1754112,7674878,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val218Glu,False,218.0,218.0,V,V,E,NM_000546.6,1,0.0,Pathogenic,-15.959552764892578,0.8650330016469395,7.3,0.0028512847538157,11.6,13.9,0.8285959940674736,11.1,0.999999966695703,10.6,-0.5787373125536993,7.2,17.1,12.2,4.8,0.9509419117980484,1.409055421193507
NM_000546.6(TP53):c.503A>T (p.His168Leu),TP53,-1,RCV002335652,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675109,7675109,na,na,1744933,7675109,T,A,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His168Leu,False,168.0,168.0,H,H,L,NM_000546.6,1,0.0,Pathogenic,-12.040519714355469,1.119178895895518,26.1,0.6988904557604938,14.3,12.6,1.009693884756008,16.05,0.999999999999515,28.0,-0.6716171321527816,16.1,11.9,16.0,18.8,0.949881306713686,1.0588478920927589
NM_000546.6(TP53):c.555C>G (p.Ser185Arg),TP53,-1,RCV002351970,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675057,7675057,na,na,1748280,7675057,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser185Arg,False,185.0,185.0,S,S,R,NM_000546.6,1,0.0,Benign,-6.934839725494385,0.0497691243998065,104.2,-0.044488306696258,71.3,84.5,0.9835742965213804,94.05,0.0127838774220958,97.9,0.0162066336223306,114.6,98.4,90.2,55.6,0.0609318721191078,0.1492331255798478
NM_000546.6(TP53):c.1177G>T (p.Asp393Tyr),TP53,-1,RCV002339912,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669614,7669614,na,na,1741120,7669614,C,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp393Tyr,False,393.0,393.0,D,D,Y,NM_000546.6,1,6.373e-05,Benign,-6.363553047180176,-0.2311362936509552,160.2,-0.1210363542517853,100.4,133.0,,130.85,9.36442072820126e-06,128.7,0.7741516014535539,92.6,133.6,198.1,94.0,-0.3058310909537327,0.0877946222433112
NM_000546.6(TP53):c.799C>G (p.Arg267Gly),TP53,-1,RCV002419114|RCV003464488,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501","Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary",GRCh38,NC_000017.11,17,7673821,7673821,na,na,1761541,7673821,G,C,1.0,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg267Gly,False,267.0,267.0,R,R,G,NM_000546.6,1,0.0,Pathogenic,-12.635672569274902,0.9367730270323086,0.4,0.6683615825301108,0.0,0.0,1.0292270004862445,0.2,1.0,27.3,-1.4039822654046552,0.0,1.2,0.0,13.9,1.073946545941776,0.8810843453883638
NM_000546.6(TP53):c.929A>G (p.Asn310Ser),TP53,-1,RCV002371495,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673599,7673599,na,na,1766454,7673599,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn310Ser,False,310.0,310.0,N,N,S,NM_000546.6,1,0.0,Benign,-2.629526138305664,-0.5984273722525676,170.4,-0.0094141082085055,128.4,164.2,,146.5,3.65714662572944e-06,143.7,0.4166249309178851,149.3,218.8,124.9,94.8,-0.4929052115613608,-0.4636633315136298
NM_000546.6(TP53):c.1020G>T (p.Met340Ile),TP53,-1,RCV002393827,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670689,7670689,na,na,1759327,7670689,C,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met340Ile,False,340.0,340.0,M,M,I,NM_000546.6,1,0.0,Benign,-4.95435905456543,-0.6057637937950113,126.9,-0.2182928608700265,79.2,107.1,,88.19999999999999,2.9934952033487e-07,100.6,0.6819118324072124,88.8,62.6,69.7,87.6,-0.5767525764218062,-0.4425821030631949
NM_000546.6(TP53):c.711G>C (p.Met237Ile),TP53,-1,RCV004055277|RCV005055457|RCV002367440,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674252,7674252,na,na,1757269,7674252,C,G,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met237Ile,False,237.0,237.0,M,M,I,NM_000546.6,1,0.0,Pathogenic,-8.383350372314453,0.7486830787996694,0.0,0.7834683365917856,0.0,0.0,0.9768936529296892,0.35,0.999999999999993,2.2,-0.6699115424939838,0.7,2.6,11.5,0.0,0.9447717695843127,1.4157206874592851
NM_000546.6(TP53):c.738G>C (p.Met246Ile),TP53,-1,RCV002380451,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674225,7674225,na,na,1758655,7674225,C,G,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met246Ile,False,246.0,246.0,M,M,I,NM_000546.6,1,0.0,Pathogenic,-5.740917205810547,-0.0001027246491612,0.0,0.1641513883005536,0.0,0.0,1.0487527321843082,0.0,0.888839415841631,142.9,-0.1516565703459354,0.5,0.0,0.0,2.0,0.2644741508236991,0.6418686067743232
NM_000546.6(TP53):c.899C>T (p.Pro300Leu),TP53,-1,RCV002376305,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673721,7673721,na,na,1765377,7673721,G,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro300Leu,False,300.0,300.0,P,P,L,NM_000546.6,1,0.0,Benign,-6.765693187713623,-0.2614397520779336,143.8,0.3926734606063993,119.3,125.2,-0.7656698847368446,136.3,0.208804006972683,215.2,0.1974280091749094,128.8,173.9,196.0,105.5,-0.0493638277350608,0.3107762780476605
NM_000546.6(TP53):c.94C>G (p.Leu32Val),TP53,-1,RCV002374122,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676384,7676384,na,na,1767161,7676384,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Leu32Val,False,32.0,32.0,L,L,V,NM_000546.6,1,0.0,Benign,-4.570634841918945,0.4612375468964299,127.7,0.021086715696279,83.2,81.3,,82.80000000000001,0.014632114972169,115.3,0.0719539612630551,82.4,87.2,55.8,65.4,-0.0926844376920828,-0.6673368987096232
NM_000546.6(TP53):c.935C>A (p.Thr312Asn),TP53,-1,RCV002371704,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673593,7673593,na,na,1766672,7673593,G,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr312Asn,False,312.0,312.0,T,T,N,NM_000546.6,1,0.0,Benign,-3.511023998260498,-0.5819424054116121,131.5,-0.1209544832150095,113.1,151.5,,117.05,6.17198756073996e-07,99.5,0.6649153943550817,121.0,132.7,56.9,52.3,-0.5296286157099099,-0.3420280473630359
NM_000546.6(TP53):c.995T>A (p.Ile332Asn),TP53,-1,RCV002382949,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670714,7670714,na,na,1768732,7670714,A,T,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ile332Asn,False,332.0,332.0,I,I,N,NM_000546.6,1,0.0,Pathogenic,-12.206709861755373,1.2223683716783276,8.0,0.0028970364501486,8.9,11.7,,10.35,1.0,9.4,-1.805857132762019,11.3,16.3,27.2,6.2,0.5570133496958407,-1.3571854553528244
NM_000546.6(TP53):c.1046A>G (p.Glu349Gly),TP53,-1,RCV002405576,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670663,7670663,na,na,1775423,7670663,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu349Gly,False,349.0,349.0,E,E,G,NM_000546.6,1,0.0,Benign,-8.779053688049316,0.0267140128382573,100.8,-0.3103249093879463,64.9,110.4,,100.4,0.000316063474483,108.8,0.1039643653127272,103.7,79.5,100.0,88.9,-0.2846901569233755,-0.7768201182956568
NM_000546.6(TP53):c.172C>G (p.Pro58Ala),TP53,-1,RCV002399165,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676197,7676197,na,na,1778944,7676197,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro58Ala,False,58.0,58.0,P,P,A,NM_000546.6,1,0.0,Benign,-4.551204681396484,-0.430757596892855,115.6,-0.2870105050703166,77.9,96.5,,87.25,4.25517812362082e-07,104.5,1.018949087028153,92.3,81.5,54.5,82.2,-0.5746882838586775,-0.2743581676550245
NM_000546.6(TP53):c.170A>T (p.Asp57Val),TP53,-1,RCV002398859,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676199,7676199,na,na,1778520,7676199,T,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp57Val,False,57.0,57.0,D,D,V,NM_000546.6,1,0.0,Benign,-2.506966590881348,-0.7790359636709034,131.2,-0.2317122069287702,73.0,107.2,,112.15,5.46042689384049e-08,97.4,1.1902721558801197,118.5,155.9,117.1,82.4,-0.7965168573817089,-0.4202424525941038
NM_000546.6(TP53):c.1063G>A (p.Ala355Thr),TP53,-1,RCV002412772,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670646,7670646,na,na,1781085,7670646,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala355Thr,False,355.0,355.0,A,A,T,NM_000546.6,1,0.0,Benign,-4.568810939788818,-0.8904612347886326,103.6,-0.5300601993741199,85.8,93.3,,94.7,8.36364095954335e-08,96.1,0.7176568194466072,131.6,84.7,103.6,82.8,-0.6769139744885542,-0.4226238692304225
NM_000546.6(TP53):c.196A>G (p.Met66Val),TP53,-1,RCV002423450,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676173,7676173,na,na,1783578,7676173,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met66Val,False,66.0,66.0,M,M,V,NM_000546.6,1,0.0,Benign,-0.9306702613830566,0.3839528320867889,135.6,0.0453143443257653,73.2,108.9,,102.9,0.415843446768921,103.6,-0.1538904025378778,124.5,85.9,102.2,102.2,0.2090713303370102,0.0893707563863636
NM_000546.6(TP53):c.23C>G (p.Pro8Arg),TP53,-1,RCV002459647,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676572,7676572,na,na,1790705,7676572,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro8Arg,False,8.0,8.0,P,P,R,NM_000546.6,1,0.0,Benign,-4.664013385772705,-0.4140782211280307,145.5,-0.0498341024073207,77.5,96.9,,116.1,3.70020654804139e-06,170.6,0.5165714212595433,106.5,145.7,125.7,81.4,-0.4999270189269179,-0.5691314143931797
NM_000546.6(TP53):c.281C>T (p.Ser94Leu),TP53,-1,RCV002441800,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676088,7676088,na,na,1796426,7676088,G,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser94Leu,False,94.0,94.0,S,S,L,NM_000546.6,1,0.0,Benign,-3.904244899749756,-0.1533875105265344,125.1,-0.2057690270357917,96.9,87.7,,104.15,1.37210438618597e-05,111.4,0.7437833403282975,124.1,93.9,169.9,95.2,-0.25158102613659,0.1424277724450619
NM_000546.6(TP53):c.1121G>T (p.Gly374Val),TP53,-1,RCV002440188,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669670,7669670,na,na,1797938,7669670,C,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly374Val,False,374.0,374.0,G,G,V,NM_000546.6,1,0.0,Benign,-3.685774803161621,-0.4923283558779888,87.0,-0.4063162387526957,47.4,76.3,,77.1,4.28438358275913e-07,82.7,0.8194517621944676,85.5,77.9,76.2,39.4,-0.5392230605228551,-0.3058890634961088
NM_000546.6(TP53):c.1123C>A (p.Gln375Lys),TP53,-1,RCV002442199,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669668,7669668,na,na,1798385,7669668,G,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gln375Lys,False,375.0,375.0,Q,Q,K,NM_000546.6,1,0.0,Benign,-1.8177872896194456,-0.4872956703563569,100.7,-0.1552649470312657,56.2,81.5,,81.95,1.5792628107507e-06,115.2,0.7386201186695742,82.4,59.0,87.3,51.6,-0.4128622105785796,-0.0126708427098077
NM_000546.6(TP53):c.339C>A (p.Phe113Leu),TP53,-1,RCV003049541,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676030,7676030,na,na,2125367,7676030,G,T,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe113Leu,False,113.0,113.0,F,F,L,NM_000546.6,1,0.0,Pathogenic,-9.16880989074707,0.139859453346914,33.4,0.2638311202071794,9.1,12.7,,19.85,0.125625250351574,50.3,0.2698960466030242,27.0,8.1,11.7,42.5,0.0679649182537736,0.3339313480174311
NM_000546.6(TP53):c.11C>A (p.Pro4Gln),TP53,-1,RCV003177169,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676584,7676584,na,na,2450740,7676584,G,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Pro4Gln,False,4.0,4.0,P,P,Q,NM_000546.6,1,0.0,Benign,-4.234182834625244,-0.4268507684672805,133.8,0.0723633897231423,90.4,103.5,,125.9,1.72248761429208e-05,186.8,0.5373955830315713,125.0,131.6,126.8,85.0,-0.3731681884829644,-0.1552582139500415
NM_000546.6(TP53):c.938G>A (p.Ser313Asn),TP53,-1,RCV003177178,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673590,7673590,na,na,2450750,7673590,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser313Asn,False,313.0,313.0,S,S,N,NM_000546.6,1,0.0,Benign,-5.104990482330322,-0.7851717460774449,158.4,-0.0474882661127769,112.4,146.0,,129.95,4.65205408446344e-07,121.2,0.5705033015516591,138.7,138.7,104.9,69.5,-0.5694940856749944,-0.3528072093958793
NM_000546.6(TP53):c.1006G>C (p.Glu336Gln),TP53,-1,RCV003171494,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670703,7670703,na,na,2450754,7670703,C,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu336Gln,False,336.0,336.0,E,E,Q,NM_000546.6,1,0.0,Benign,-8.772904396057129,-1.366195310267426,124.2,-0.2820969371736599,121.3,145.8,,122.75,1.7811845117876402e-09,130.5,0.816818793905878,113.5,118.2,163.5,95.9,-0.9911267587321904,-0.7903661720232675
NM_000546.6(TP53):c.972T>A (p.Asp324Glu),TP53,-1,RCV003177183,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673556,7673556,na,na,2450758,7673556,A,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp324Glu,False,324.0,324.0,D,D,E,NM_000546.6,1,0.0,Benign,-2.690408706665039,0.0319970297985129,155.1,-0.2831713347067575,124.2,135.9,,121.05,1.98333608841279e-05,88.9,0.5828690539224439,81.2,132.5,117.9,101.0,-0.2400183949199281,-0.1691831606358535
NM_000546.6(TP53):c.682G>T (p.Asp228Tyr),TP53,-1,RCV003177184,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674281,7674281,na,na,2450759,7674281,C,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp228Tyr,False,228.0,228.0,D,D,Y,NM_000546.6,1,0.0,Benign,-6.6131439208984375,0.1753811343704004,141.7,0.1728652200340477,99.1,104.5,-0.4768327328794686,101.7,0.0089956390254973,104.7,0.3297777270123599,68.5,91.7,35.8,104.3,-0.0288587280401123,0.0678204085216224
NM_000546.6(TP53):c.1023C>G (p.Phe341Leu),TP53,-1,RCV003341665,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670686,7670686,na,na,2585878,7670686,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe341Leu,False,341.0,341.0,F,F,L,NM_000546.6,1,0.0,Benign,1.6969151496887207,-0.5074954538475749,113.7,-0.1743653834556295,75.3,118.3,,102.95,4.13249833062493e-07,101.1,0.8467753153761074,104.8,82.1,113.5,98.1,-0.5640262145223605,-0.337807874343399
NM_000546.6(TP53):c.1159A>C (p.Thr387Pro),TP53,-1,RCV003339031,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7669632,7669632,na,na,2585882,7669632,T,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Thr387Pro,False,387.0,387.0,T,T,P,NM_000546.6,1,0.0,Benign,-4.349850654602051,-2.530336647414281,139.6,-0.230709701048283,100.1,111.3,,105.7,1.33361989463667e-12,190.8,0.7894651585812027,93.3,67.4,89.4,124.4,-1.4798893882936646,-1.1198663588855098
NM_000546.6(TP53):c.325T>A (p.Phe109Ile),TP53,-1,RCV003387704|RCV004697289,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900",Li-Fraumeni syndrome|not provided,GRCh38,NC_000017.11,17,7676044,7676044,na,na,2627017,7676044,A,T,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe109Ile,False,109.0,109.0,F,F,I,NM_000546.6,1,0.0,Pathogenic,-13.138452529907228,0.7017978939849305,16.1,0.0307427031532832,7.7,3.9,,13.5,0.999999798658074,36.6,-0.5765662133583807,14.0,13.2,12.3,13.8,0.8544668932778295,1.285036572490177
NM_000546.6(TP53):c.1040C>G (p.Ala347Gly),TP53,-1,RCV003482185,"MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145",Hereditary breast ovarian cancer syndrome,GRCh38,NC_000017.11,17,7670669,7670669,na,na,2683739,7670669,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala347Gly,False,347.0,347.0,A,A,G,NM_000546.6,1,0.0,Benign,-8.018869400024414,0.2872337558675464,135.3,-0.3748281815416356,94.1,143.1,,90.6,0.0079947955719692,87.1,-0.0610715564305694,62.6,129.3,76.0,84.9,-0.2134071853976662,-0.9885268684911144
NM_000546.6(TP53):c.339C>G (p.Phe113Leu),TP53,-1,RCV003510559,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676030,7676030,na,na,2702402,7676030,G,C,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe113Leu,False,113.0,113.0,F,F,L,NM_000546.6,1,0.0,Pathogenic,-9.16880989074707,0.139859453346914,33.4,0.2638311202071794,9.1,12.7,,19.85,0.125625250351574,50.3,0.2698960466030242,27.0,8.1,11.7,42.5,0.0679649182537736,0.3339313480174311
NM_000546.6(TP53):c.143A>G (p.Asp48Gly),TP53,-1,RCV003621963,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676226,7676226,na,na,2795844,7676226,T,C,0.1,3.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp48Gly,False,48.0,48.0,D,D,G,NM_000546.6,1,0.0,Benign,-3.790796995162964,0.0663690836682523,128.3,-0.0874415499493481,108.0,140.4,,134.35000000000002,0.000692949613033,141.4,0.2582442675823237,103.9,152.8,149.6,77.2,-0.0556693291357562,0.0248671965068025
NM_000546.6(TP53):c.812A>T (p.Glu271Val),TP53,-1,RCV004437827|RCV005104626,"Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome 1|Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7673808,7673808,na,na,3147994,7673808,T,A,1.1,2.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu271Val,False,271.0,271.0,E,E,V,NM_000546.6,1,0.0,Pathogenic,-13.476558685302734,0.6968874904828574,13.9,-0.0599714927976152,16.8,19.3,0.6068019539691187,17.0,0.999999976505978,22.9,-0.7597607084202218,1.4,50.1,10.8,17.2,0.905671516360167,1.2603663501774225
NM_000546.6(TP53):c.1061A>T (p.Gln354Leu),TP53,-1,RCV004518762,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670648,7670648,na,na,3232047,7670648,T,A,0.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gln354Leu,False,354.0,354.0,Q,Q,L,NM_000546.6,1,0.0,Benign,-1.569746494293213,-1.247134650471052,112.0,-0.0566494378440629,95.0,80.6,,90.55,1.05667996540333e-08,95.1,0.7651521870397066,92.3,88.8,73.0,73.1,-0.8444666086303045,-0.5211129883801551
NM_000546.6(TP53):c.629A>G (p.Asn210Ser),TP53,-1,RCV004518773|RCV004747437,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|",Hereditary cancer-predisposing syndrome|TP53-related disorder,GRCh38,NC_000017.11,17,7674902,7674902,na,na,3232058,7674902,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asn210Ser,False,210.0,210.0,N,N,S,NM_000546.6,1,0.0,Benign,-6.471652030944824,-0.2423285369415851,186.6,-0.1570329489258792,126.1,148.8,-1.145271725459165,138.65,2.43534688709299e-05,89.1,0.4973805335712958,155.4,222.4,36.2,128.5,-0.2195018100676573,0.0812036403099089
NM_000546.6(TP53):c.1020G>C (p.Met340Ile),TP53,-1,RCV004597423,MedGen:CN169374,not specified,GRCh38,NC_000017.11,17,7670689,7670689,na,na,3256325,7670689,C,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Met340Ile,False,340.0,340.0,M,M,I,NM_000546.6,1,0.0,Benign,-4.95435905456543,-0.6057637937950113,126.9,-0.2182928608700265,79.2,107.1,,88.19999999999999,2.9934952033487e-07,100.6,0.6819118324072124,88.8,62.6,69.7,87.6,-0.5767525764218062,-0.4425821030631949
NM_000546.6(TP53):c.547T>C (p.Ser183Pro),TP53,-1,RCV004687580,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675065,7675065,na,na,3328150,7675065,A,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser183Pro,False,183.0,183.0,S,S,P,NM_000546.6,1,0.0,Benign,-3.523712396621704,0.7681190093520003,112.1,0.17173509412048,81.3,79.8,-1.0557055497104124,102.25,0.996718850778877,104.1,-0.3235234960018661,110.2,100.4,111.8,69.9,0.4504265297885892,0.2596370840119013
NM_000546.6(TP53):c.503A>C (p.His168Pro),TP53,-1,RCV004677189,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675109,7675109,na,na,3328154,7675109,T,G,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,His168Pro,False,168.0,168.0,H,H,P,NM_000546.6,1,0.0,Pathogenic,-11.516412734985352,0.8276987137419961,19.3,0.654283973621955,11.7,9.7,1.0367982749054905,14.3,1.0,17.4,-1.280540701051731,20.2,9.5,16.3,12.3,1.4221063126250868,2.158079523081533
NM_000546.6(TP53):c.1004G>T (p.Arg335Leu),TP53,-1,RCV004677194,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670705,7670705,na,na,3328160,7670705,C,A,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Arg335Leu,False,335.0,335.0,R,R,L,NM_000546.6,1,0.0,Benign,-9.900371551513672,-0.1434584441421992,111.0,-0.3923728711307679,113.9,131.8,,112.45,1.40423809866795e-05,90.8,0.3910471546748765,120.2,90.0,171.7,86.9,-0.4462370587092192,-0.8042055773105821
NM_000546.6(TP53):c.905G>C (p.Gly302Ala),TP53,-1,RCV004677196,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673715,7673715,na,na,3328162,7673715,C,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly302Ala,False,302.0,302.0,G,G,A,NM_000546.6,1,0.0,Benign,-5.893660545349121,-0.2728715349402377,146.6,-0.0059857545412986,95.0,109.0,-0.7626720871752126,116.6,3.4686878545876e-05,156.7,0.3998717463467838,110.3,122.9,138.4,109.0,-0.5932618364423907,-1.1070422280401506
NM_000546.6(TP53):c.956A>C (p.Lys319Thr),TP53,-1,RCV004677203,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673572,7673572,na,na,3328169,7673572,T,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Lys319Thr,False,319.0,319.0,K,K,T,NM_000546.6,1,0.0,Benign,-9.34381103515625,-0.1984614777460124,116.2,-0.4835595506367574,90.2,65.3,,77.75,3.23479699979975e-06,106.2,0.6526396180548888,96.5,64.2,45.1,60.0,-0.4899500367714535,-0.6187490145134591
NM_000546.6(TP53):c.1061A>C (p.Gln354Pro),TP53,-1,RCV004677205,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670648,7670648,na,na,3328171,7670648,T,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gln354Pro,False,354.0,354.0,Q,Q,P,NM_000546.6,1,0.0,Benign,-2.8492438793182373,-0.3365440363675051,130.8,-0.2724728633830429,72.0,142.5,,134.65,2.06060496134967e-06,150.3,0.574903790860999,124.0,161.4,138.5,106.3,-0.6318898129445706,-0.984221611605208
NM_000546.6(TP53):c.612G>C (p.Glu204Asp),TP53,-1,RCV004949420,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674919,7674919,na,na,3460304,7674919,C,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu204Asp,False,204.0,204.0,E,E,D,NM_000546.6,1,0.0,Benign,-8.980392456054688,0.0003484552893075,110.8,-0.1313175286185937,79.7,134.9,-1.1126415002039116,80.5,0.0006162770034132,74.7,0.4083855537696833,67.3,81.3,40.3,83.4,-0.0141709493359291,0.3655242504725885
NM_000546.6(TP53):c.280T>G (p.Ser94Ala),TP53,-1,RCV004949422,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676089,7676089,na,na,3460308,7676089,A,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser94Ala,False,94.0,94.0,S,S,A,NM_000546.6,1,0.0,Benign,-4.03989839553833,1.0065204114152806,146.5,0.2928302732914594,115.1,124.5,,135.5,0.936271176892771,96.3,0.2179891527329688,149.7,223.6,150.7,103.5,0.3661935795662194,0.3100494800163467
NM_000546.6(TP53):c.218T>A (p.Val73Glu),TP53,-1,RCV004949426,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676151,7676151,na,na,3460312,7676151,A,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val73Glu,False,73.0,73.0,V,V,E,NM_000546.6,1,0.0,Benign,-3.533400535583496,-0.3431287850635668,121.8,0.0029552992415643,46.4,107.2,,88.0,7.97136772323331e-06,107.6,0.6151627155201052,119.0,64.8,56.3,68.8,-0.3968817225127401,-0.2323536669545484
NM_000546.6(TP53):c.820G>A (p.Val274Ile),TP53,-1,RCV004949437,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7673800,7673800,na,na,3460325,7673800,C,T,0.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val274Ile,False,274.0,274.0,V,V,I,NM_000546.6,1,0.0,Benign,-4.286913871765137,-0.7515013816080854,173.5,-0.1486052879082862,98.2,185.4,-1.137340348348538,150.95,4.91861824698901e-07,143.0,0.5949708201630979,196.7,158.9,111.5,131.4,-0.4857797685413009,-0.1108671038527194
NM_000546.6(TP53):c.1029G>T (p.Glu343Asp),TP53,-1,RCV004949439,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670680,7670680,na,na,3460327,7670680,C,A,0.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu343Asp,False,343.0,343.0,E,E,D,NM_000546.6,1,0.0,Benign,-4.91502857208252,-0.1057242789728225,108.6,-0.2606661526990466,91.4,114.0,,109.3,5.37014447584119e-06,114.1,0.5805496565963857,110.0,100.7,127.7,100.6,-0.4270438531610672,-0.5948576239139935
NM_000546.6(TP53):c.227C>G (p.Ala76Gly),TP53,-1,RCV004949443,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676142,7676142,na,na,3460333,7676142,G,C,0.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ala76Gly,False,76.0,76.0,A,A,G,NM_000546.6,1,0.0,Benign,-6.529934406280518,0.0871056100922236,169.7,-0.20635694732627,63.1,112.4,,107.8,0.0001352893190225,107.6,0.2835638170816122,132.8,97.1,108.0,86.9,-0.1829083396931674,-0.3522668120901138
NM_000546.6(TP53):c.1067G>A (p.Gly356Glu),TP53,-1,RCV004949446,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7670642,7670642,na,na,3460336,7670642,C,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Gly356Glu,False,356.0,356.0,G,G,E,NM_000546.6,1,0.0,Benign,-3.3911945819854736,-0.2707255806381819,102.2,-0.0598729764953285,78.9,61.8,,72.75,1.70476258982765e-05,80.8,0.4026049612963216,91.6,66.6,62.6,62.9,-0.3638896882416473,-0.4183385227904385
NM_000546.6(TP53):c.635T>C (p.Phe212Ser),TP53,-1,RCV004949449,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674896,7674896,na,na,3460339,7674896,A,G,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe212Ser,False,212.0,212.0,F,F,S,NM_000546.6,1,0.0,Benign,-10.692205429077148,0.6412456378851067,206.4,0.1433837245989153,130.1,141.7,0.9389651593336292,127.65,0.739764753366842,94.2,0.0243048467599528,125.2,98.6,51.4,140.9,0.3194270690195565,0.3413404159335158
NM_000546.6(TP53):c.440T>G (p.Val147Gly),TP53,-1,RCV005055475,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7675172,7675172,na,na,3602769,7675172,A,C,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Val147Gly,False,147.0,147.0,V,V,G,NM_000546.6,1,0.0,Pathogenic,-13.05143928527832,1.274371542633828,5.2,0.5121491761164867,5.6,7.9,0.98250619364025,9.2,1.0,10.5,-1.5704654547158052,17.3,13.4,17.0,3.1,1.204016656369504,0.7672129717588788
NM_000546.6(TP53):c.337T>C (p.Phe113Leu),TP53,-1,RCV005109055,"MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524",Li-Fraumeni syndrome,GRCh38,NC_000017.11,17,7676032,7676032,na,na,3634432,7676032,A,G,1.0,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Phe113Leu,False,113.0,113.0,F,F,L,NM_000546.6,1,0.0,Pathogenic,-9.16880989074707,0.139859453346914,33.4,0.2638311202071794,9.1,12.7,,19.85,0.125625250351574,50.3,0.2698960466030242,27.0,8.1,11.7,42.5,0.0679649182537736,0.3339313480174311
NM_000546.6(TP53):c.496T>A (p.Ser166Thr),TP53,-1,RCV005278494,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675116,7675116,na,na,3809673,7675116,A,T,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Ser166Thr,False,166.0,166.0,S,S,T,NM_000546.6,1,0.0,Benign,-8.717843055725098,-0.631612285676338,106.4,-0.0810307781010357,61.1,91.9,-1.1208346767659951,90.7,8.80024348906539e-07,59.7,0.7942294471087215,117.6,98.6,89.5,58.1,-0.4800802996558821,-0.0143991661825867
NM_000546.6(TP53):c.372C>G (p.Cys124Trp),TP53,-1,RCV005278495,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7675997,7675997,na,na,3809674,7675997,G,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys124Trp,False,124.0,124.0,C,C,W,NM_000546.6,1,0.0,Benign,-6.540285110473633,-0.3222157679835173,148.4,0.0393838764741536,80.5,123.3,,116.85,0.0010444843916636,110.4,0.1505773822429613,136.8,202.8,96.3,88.7,-0.1070347721439727,0.1516888337945603
NM_000546.6(TP53):c.185A>G (p.Glu62Gly),TP53,-1,RCV005287982,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7676184,7676184,na,na,3809683,7676184,T,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Glu62Gly,False,62.0,62.0,E,E,G,NM_000546.6,1,0.0,Benign,-2.724339008331299,0.1988974883634361,143.4,-0.1721183413439695,71.1,109.1,,107.05,0.0023101930593926,106.1,0.0998210023626706,154.5,108.0,100.2,86.9,-0.0012568529295175,-0.1028470447893181
NM_000546.6(TP53):c.621T>G (p.Asp207Glu),TP53,-1,RCV005278502,"MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162",Hereditary cancer-predisposing syndrome,GRCh38,NC_000017.11,17,7674910,7674910,na,na,3809687,7674910,A,C,0.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Asp207Glu,False,207.0,207.0,D,D,E,NM_000546.6,1,0.0,Benign,-4.143198013305664,-0.3505698624156161,215.8,-0.0879461234227443,156.0,144.8,0.9055129680067684,150.4,4.4963622171588e-05,88.4,0.3343260518574756,157.1,270.4,97.7,142.2,-0.2214758200225955,0.0204684542053052
NM_000546.6(TP53):c.404G>C (p.Cys135Ser),TP53,-1,RCV005402362,MedGen:C3661900,not provided,GRCh38,NC_000017.11,17,7675208,7675208,na,na,3893309,7675208,C,G,1.1,1.0,1,1,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,{'NM_000546.6'},set(),4,0,0,Cys135Ser,False,135.0,135.0,C,C,S,NM_000546.6,1,0.0,Pathogenic,-12.332383155822754,0.6454091306505839,30.7,-0.0321739360579153,15.1,11.4,1.1855142152264304,17.95,0.999999997742461,25.9,-0.9758268731556944,12.2,11.5,20.8,20.8,0.9000496173794689,1.0789128483321282