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 EYA1 2138 broad.mit.edu 37 8 72211442 72211442 + Silent SNP G G A TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr8:72211442G>A ENST00000340726.3 - 9 1305 c.666C>T c.(664-666)ggC>ggT p.G222G EYA1_ENST00000388742.4_Silent_p.G222G|EYA1_ENST00000419131.1_Silent_p.G217G|EYA1_ENST00000388740.3_Silent_p.G189G|EYA1_ENST00000388741.2_Silent_p.G188G|EYA1_ENST00000303824.7_Silent_p.G216G|EYA1_ENST00000388743.2_Silent_p.G221G NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 222 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACTGACCCTGGCCAAAACTGG 0.443000 3 59 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 4 27 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 67 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 45 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3844559 3844559 + Silent SNP C C A TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr17:3844559C>A ENST00000309890.7 - 14 1956 c.1806G>T c.(1804-1806)ccG>ccT p.P602P ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.P602P|ATP2A3_ENST00000397035.3_Silent_p.P602P|ATP2A3_ENST00000397041.3_Silent_p.P602P|ATP2A3_ENST00000352011.3_Silent_p.P602P|ATP2A3_ENST00000397043.3_Silent_p.P602P NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 602 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CAGGTCGCGGCGGGTCCAGCA 0.647000 3 46 0.150653 0.150653 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 141 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 14 46 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103141235 103141235 + Missense_Mutation SNP G G A TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr7:103141235G>A ENST00000428762.1 - 53 8783 c.8624C>T c.(8623-8625)cCg>cTg p.P2875L RELN_ENST00000343529.5_Missense_Mutation_p.P2875L|RELN_ENST00000424685.2_Missense_Mutation_p.P2875L|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2875 EGF-like 7. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.P2875L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGAGTATCCCGGATCACAGAT 0.517000 16 63 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912423 150912423 + Missense_Mutation SNP G G A TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chrX:150912423G>A ENST00000329903.4 + 6 1481 c.1448G>A c.(1447-1449)cGc>cAc p.R483H NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 483 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) tacatttgccgcaaaggggac 0.527000 4 80 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40399771 40399771 + Missense_Mutation SNP G G A TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr6:40399771G>A ENST00000338305.6 - 2 1624 c.1082C>T c.(1081-1083)gCt>gTt p.A361V NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 361 Ig-like. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCATTGGCAGCAATGCAGGT 0.607000 3 37 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 24 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151678723 151678725 + In_Frame_Del DEL TGC TGC - TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr1:151678723_151678725delTGC ENST00000290583.4 - 10 1894_1896 c.1101_1103delGCA c.(1099-1104)caa>ca p.QQ371del CELF3_ENST00000392706.3_In_Frame_Del_p.QQ166del|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_In_Frame_Del_p.QQ321del NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 371 Gln-rich. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding p.Q367Q(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 ctgctgctgttgctgctgctgct 0.660 2 4 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 249 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-DB-A75P-01A-11D-A32B-08 TCGA-DB-A75P-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e439c8-fbfd-43f4-9082-9955c2941eae 17162650-c8fc-48ac-9387-5a715f85e0c5 g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- ---