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 pox qox pox_cutoff isArtifactMode oxoGCut OR12D2 26529 broad.mit.edu 37 6 29365004 29365004 + Silent SNP C C G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr6:29365004C>G ENST00000383555.2 + 1 589 c.528C>G c.(526-528)ctC>ctG p.L176L OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 ATCATTTTCTCTGTGATATTA 0.483000 5 114 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18846419 18846419 + Missense_Mutation SNP T T G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr16:18846419T>G ENST00000446231.2 - 49 8537 c.8125A>C c.(8125-8127)Acc>Ccc p.T2709P SMG1_ENST00000389467.3_Missense_Mutation_p.T2709P Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2709 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CGCTGCAGGGTCATTTCAGTG 0.443000 4 121 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183888621 183888621 + Silent SNP T T C TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr2:183888621T>C ENST00000360982.2 - 3 908 c.150A>G c.(148-150)aaA>aaG p.K50K NCKAP1_ENST00000361354.3_Silent_p.K44K NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 44 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GATAGGATGGTTTTGCCTTGG 0.353000 5 109 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213904 9213904 + Missense_Mutation SNP G G T TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr19:9213904G>T ENST00000305456.2 - 1 78 c.79C>A c.(79-81)Caa>Aaa p.Q27K NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 ATAGCTGTTTGGTTTCTCGCT 0.453000 3 59 6.4e-05 6.4e-05 1 1 0 HCAR3 8843 broad.mit.edu 37 12 123200861 123200861 + Missense_Mutation SNP A A G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr12:123200861A>G ENST00000528880.2 - 1 578 c.424T>C c.(424-426)Tgg>Cgg p.W142R HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 142 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GCTGCTGTCCAATTGGAGATC 0.542000 5 62 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580167 82580167 + Missense_Mutation SNP C C T TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr7:82580167C>T ENST00000423517.2 - 6 10074 c.9737G>A c.(9736-9738)cGa>cAa p.R3246Q PCLO_ENST00000333891.8_Missense_Mutation_p.R3246Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3177 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3246L(2)|p.R3177L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTGTTCTCGGAACCTTTG 0.473000 7 92 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169122871 169122871 + Missense_Mutation SNP G G A TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr5:169122871G>A ENST00000256935.8 + 10 988 c.908G>A c.(907-909)gGc>gAc p.G303D NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 303 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCCGGGTCGGCAAGATGGAT 0.463000 4 59 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 3 30 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 3 32 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647850 121647850 + Missense_Mutation SNP C C G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr3:121647850C>G ENST00000489711.1 + 16 1751 c.1363C>G c.(1363-1365)Ctg>Gtg p.L455V SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.L424V NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 455 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CTATTCCAAACTGCACCTGAA 0.403000 4 106 0 0 1 0 0 CAP1 10487 broad.mit.edu 37 1 40535489 40535490 + Frame_Shift_Ins INS - - G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr1:40535489_40535490insG ENST00000372797.3 + 9 1497_1498 c.936_937insG c.(934-939)aagagcfs p.S313fs CAP1_ENST00000372802.1_Frame_Shift_Ins_p.S312fs|CAP1_ENST00000372805.3_Frame_Shift_Ins_p.S313fs|CAP1_ENST00000340450.3_Frame_Shift_Ins_p.S312fs|CAP1_ENST00000372798.1_Frame_Shift_Ins_p.S312fs|CAP1_ENST00000372792.2_Frame_Shift_Ins_p.S313fs|CAP1_ENST00000479759.1_3'UTR NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 313 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATCCCCCAAACGAGCCACAAA 0.505 32 55 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579441 7579453 + Frame_Shift_Del DEL CGGTGTAGGAGCT CGGTGTAGGAGCT - TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr17:7579441_7579453delCGGTGTAGGAGCT ENST00000420246.2 - 4 366_378 c.234_246delAGCTCCTACACCG c.(232-246)gcfs p.AAPTP78fs TP53_ENST00000359597.4_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.AAPTP78fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.AAPTP78fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 78 Interaction with HRMT1L2.|Interaction with WWOX. A -> V (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.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.T81I(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.P80L(1)|p.A79V(1)|p.A79_A88del10(1)|p.P82fs*43(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P82fs*67(1)|p.P80fs*41(1)|p.P82P(1)|p.P80fs*43(1)|p.A83fs*91(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) CAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAG 0.610 111 """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) 7 98 --- --- --- ---