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 DFNB31 25861 broad.mit.edu 37 9 117166263 117166263 + Silent SNP G G T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr9:117166263G>T uc004biz.4 - 9 2986 c.2331C>A c.(2329-2331)ggC>ggA p.G777G DFNB31_uc004bix.3_Silent_p.G426G|DFNB31_uc004biy.4_Silent_p.G394G|DFNB31_uc004bja.4_Silent_p.G776G NM_015404 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 1, mRNA. 777 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCCTTCCTCGGCCTGGGGCGC 0.652000 41 84 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123193357 123193357 + Missense_Mutation SNP A A G TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr4:123193357A>G uc003ieh.3 + 45 8288 c.8243A>G c.(8242-8244)gAg>gGg p.E2748G KIAA1109_uc003iel.1_Missense_Mutation_p.E683G|KIAA1109_uc003iek.2_Missense_Mutation_p.E1367G NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2748 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTGTGTTTGAGAATGAACAA 0.383000 14 48 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314337 176314337 + Splice_Site SNP C C T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr5:176314337C>T uc003mfa.3 - 12 1693 c.1601_splice c.e12-1 p.E534_splice HK3_uc003mez.3_Splice_Site_p.E90_splice NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 534 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATCCCCTCGCTCTGTGGGGG 0.637000 13 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 57 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346448 72346448 + Missense_Mutation SNP T T C TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr18:72346448T>C uc002llw.2 + 0 3526 c.3473T>C c.(3472-3474)tTc>tCc p.F1158S ZNF407_uc010xfc.2_Missense_Mutation_p.F1158S|ZNF407_uc010dqu.2_Missense_Mutation_p.F1158S|ZNF407_uc002llu.2_Missense_Mutation_p.F1157S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N1157H(1) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAATCTAATTTCAATGAAGAC 0.383000 21 82 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656684 46656684 + Silent SNP G G A TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr6:46656684G>A uc003oyj.3 + 0 1073 c.819G>A c.(817-819)tcG>tcA p.S273S TDRD6_uc010jze.3_Silent_p.S273S NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 273 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCAGCGTCTCGCAGGAGATCC 0.627000 3 23 0 0 1 0 0