Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample MTOR 2475 broad.mit.edu 37 1 11210249 11210249 + Missense_Mutation SNP T T C TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr1:11210249T>C ENST00000361445.4 - 31 4580 c.4504A>G c.(4504-4506)Acc>Gcc p.T1502A NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1502 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TTAACCAGGGTCCACTTTTCA 0.478 5 21 --- --- --- --- MRPS25 64432 broad.mit.edu 37 3 15106611 15106611 + Missense_Mutation SNP T T C TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr3:15106611T>C ENST00000253686.2 - 1 231 c.91A>G c.(91-93)Aca>Gca p.T31A MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 31 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 TAATTCACTGTCATGACCTTC 0.647 6 10 --- --- --- --- ZBBX 79740 broad.mit.edu 37 3 166960306 166960306 + Missense_Mutation SNP C C A TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr3:166960306C>A ENST00000392766.2 - 20 2603 c.2263G>T c.(2263-2265)Gtt>Ttt p.V755F ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 755 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AATTCCTCAACTCCACAGGGA 0.358 16 25 --- --- --- --- ASIC5 51802 broad.mit.edu 37 4 156784879 156784879 + Missense_Mutation SNP A A C TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr4:156784879A>C ENST00000537611.2 - 2 114 c.68T>G c.(67-69)cTt>cGt p.L23R TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 23 integral to membrane|plasma membrane TTTCTTTGAAAGGCAAAGCTT 0.358 30 38 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089965 32089965 + Silent SNP A A G TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr5:32089965A>G ENST00000438447.1 + 20 6799 c.6411A>G c.(6409-6411)gcA>gcG p.A2137A PDZD2_ENST00000282493.3_Silent_p.A2137A O15018 PDZD2_HUMAN PDZ domain containing 2 2137 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCCAGGTCGCAGAATCATCCA 0.542 38 57 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264543 146264543 + Silent SNP G G A TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr6:146264543G>A ENST00000367503.3 - 9 2372 c.1974C>T c.(1972-1974)cgC>cgT p.R658R SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R|SHPRH_ENST00000367505.2_Silent_p.R658R NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 658 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TACACTCAAAGCGGTAATCAG 0.418 41 65 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30436473 30436473 + Silent SNP G G A TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr8:30436473G>A ENST00000355904.4 - 8 1123 c.841C>T c.(841-843)Ctg>Ttg p.L281L NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 281 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TAATCCTTCAGCACTCCAGCC 0.433 33 7 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32632097 32632097 + Missense_Mutation SNP C C T TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr9:32632097C>T ENST00000242310.4 - 1 3570 c.3481G>A c.(3481-3483)Gga>Aga p.G1161R NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1161 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGATTGTTTCCTGATGCTGCT 0.493 10 84 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133226399 133226399 + Missense_Mutation SNP A A G TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr12:133226399A>G ENST00000320574.5 - 30 3702 c.3659T>C c.(3658-3660)cTg>cCg p.L1220P POLE_ENST00000535270.1_Missense_Mutation_p.L1193P NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1220 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGGTGAGGCAGCTTTACGAG 0.602 DNA polymerases (catalytic subunits) 8 61 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85403130 85403130 + Silent SNP T T G TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr15:85403130T>G ENST00000258888.5 + 8 4862 c.4695T>G c.(4693-4695)ccT>ccG p.P1565P NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1565 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCTCAGCCCTGAGGGTGAGT 0.652 50 62 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578509 7578509 + Missense_Mutation SNP A A C TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr17:7578509A>C ENST00000420246.2 - 5 553 c.421T>G c.(421-423)Tgc>Ggc p.C141G TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCACAGGGCAGGTCTTGGCC 0.567 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 16 --- --- --- --- PI4KA 5297 broad.mit.edu 37 22 21173958 21173958 + Missense_Mutation SNP T T C TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr22:21173958T>C ENST00000255882.6 - 6 846 c.760A>G c.(760-762)Aaa>Gaa p.K254E PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 196 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTGCTGGTTTTCCTCTTCAGG 0.542 53 55 --- --- --- --- APOL5 80831 broad.mit.edu 37 22 36123054 36123054 + Silent SNP C C T TCGA-HC-A48F-01A-11D-A257-08 TCGA-HC-A48F-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7030b035-d4d9-42fc-ba42-79f3f9d30308 609e8c56-485a-4a1d-aa5d-ab4781c39cc7 g.chr22:36123054C>T ENST00000249044.2 + 3 939 c.939C>T c.(937-939)agC>agT p.S313S NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 313 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 TCCTGCAGAGCTGGAAGCACC 0.582 32 57 --- --- --- ---