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 NEGR1 257194 broad.mit.edu 37 1 72241872 72241872 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:72241872C>T ENST00000357731.5 - 3 757 c.518G>A c.(517-519)cGa>cAa p.R173Q NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GGAGATGTGTCGCCAAGAAAT 0.418 3 38 --- --- --- --- GNAT2 2780 broad.mit.edu 37 1 110146052 110146052 + Missense_Mutation SNP T T A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:110146052T>A ENST00000351050.3 - 8 1175 c.989A>T c.(988-990)cAg>cTg p.Q330L NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 330 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTTGACATTCTGTGTATCTGT 0.403 4 61 --- --- --- --- NBPF15 284565 broad.mit.edu 37 1 148594407 148594407 + Missense_Mutation SNP G G A rs144416833 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:148594407G>A ENST00000442702.2 + 21 2847 c.1780G>A c.(1780-1782)Gtg>Atg p.V594M NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 594 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) GCTCTACGGCGTGCTGATGGA 0.458 13 286 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82833276 82833276 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr5:82833276C>T ENST00000265077.3 + 8 5019 c.4454C>T c.(4453-4455)aCt>aTt p.T1485I VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1485 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGCCTGAGACTTACCCTGAA 0.423 4 68 --- --- --- --- FAM65B 9750 broad.mit.edu 37 6 24848254 24848254 + Splice_Site SNP A A C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr6:24848254A>C ENST00000259698.4 - 12 1251 c.1076T>G c.(1075-1077)tTt>tGt p.F359C FAM65B_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 359 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TGAACTTACAAAGAAGGAGTG 0.507 16 44 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140453145 140453145 + Missense_Mutation SNP A A C rs121913368 TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr7:140453145A>C ENST00000288602.6 - 15 1850 c.1790T>G c.(1789-1791)cTa>cGa p.L597R NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 597 Protein kinase. L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). 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.L597R(14)|p.L597S(9)|p.L597Q(8) 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) CACTGTAGCTAGACCAAAATC 0.383 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 5 92 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104934014 104934014 + Splice_Site SNP T T A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr8:104934014T>A ENST00000507740.1 + 8 1856 c.e8+2 RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAACTTTCAGTATGTAGTCAT 0.338 HNSCC(12;0.0054) 7 47 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26465766 26465766 + Missense_Mutation SNP G G T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:26465766G>T ENST00000265944.5 + 31 4596 c.4430G>T c.(4429-4431)tGc>tTc p.C1477F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1477 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TCTCAGCAGTGCCTCTCAGGT 0.373 4 58 --- --- --- --- PDHX 8050 broad.mit.edu 37 11 34991708 34991708 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr11:34991708C>T ENST00000448838.3 + 7 1036 c.794C>T c.(793-795)gCc>gTc p.A265V PDHX_ENST00000227868.4_Missense_Mutation_p.A280V|PDHX_ENST00000430469.2_Intron NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 280 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GAAATCCCCGCCAGCAATATT 0.383 12 44 --- --- --- --- OR4Q3 441669 broad.mit.edu 37 14 20216043 20216043 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr14:20216043G>A ENST00000331723.1 + 1 457 c.457G>A c.(457-459)Ggt>Agt p.G153S NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGTGTGGGGGTTTTATCCA 0.498 10 39 --- --- --- --- BAHD1 22893 broad.mit.edu 37 15 40750961 40750961 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr15:40750961C>T ENST00000561234.1 + 2 557 c.298C>T c.(298-300)Ccc>Tcc p.P100S BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 100 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCCCAAGCCCCCCAGCCCGGC 0.657 9 73 --- --- --- --- SLC30A4 7782 broad.mit.edu 37 15 45777429 45777429 + Missense_Mutation SNP T T C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr15:45777429T>C ENST00000261867.4 - 8 1536 c.1222A>G c.(1222-1224)Att>Gtt p.I408V RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 408 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TGAAGCTGAATAGTACATCTA 0.378 3 34 --- --- --- --- ESF1 51575 broad.mit.edu 37 20 13695683 13695683 + Silent SNP T T C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr20:13695683T>C ENST00000202816.1 - 14 2501 c.2394A>G c.(2392-2394)gaA>gaG p.E798E NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 798 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GTTCTTTCCGTTCTCTTTGCC 0.398 29 121 --- --- --- --- TUBB8 347688 broad.mit.edu 37 10 93834 93835 + Frame_Shift_Del DEL TG TG - TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:93834_93835delTG ENST00000447903.2 - 4 596_597 c.281_282delCA c.(280-282)acafs p.T94fs TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 166 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GGATGCTGAATGTGTTTATGAT 0.584 8 199 --- --- --- ---