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 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 5 14 0 0 0.021553 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 6 46 0 0 0.029380 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62688015 62688015 + Missense_Mutation SNP G G A TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr6:62688015G>A ENST00000281156.4 - 4 717 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGACTCATACGTGAATAAGCT 0.368000 27 40 0 0 0.144211 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 6 47 0.00198382 0.00255062 0.029380 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 6 47 0 0 0.029380 0 0 ADCY7 113 broad.mit.edu 37 16 50339756 50339756 + Missense_Mutation SNP G G A rs77603243 by1000genomes TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr16:50339756G>A ENST00000394697.2 + 14 2088 c.1748G>A c.(1747-1749)cGc>cAc p.R583H ADCY7_ENST00000566433.2_Missense_Mutation_p.R583H|ADCY7_ENST00000538642.1_Missense_Mutation_p.R583H|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.R583H P51828 ADCY7_HUMAN adenylate cyclase 7 583 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGCTTTGAGCGCGAGGTGAGG 0.672000 12 26 0 0 0.080935 0 0 MXRA5 25878 broad.mit.edu 37 X 3242413 3242413 + Missense_Mutation SNP T T G TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chrX:3242413T>G ENST00000217939.6 - 5 1467 c.1313A>C c.(1312-1314)gAt>gCt p.D438A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 438 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGCTGGATATCTATGGATGG 0.483000 31 97 0 0 0.173368 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524630 10524630 + Silent SNP G G A TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr16:10524630G>A ENST00000396560.2 + 3 380 c.153G>A c.(151-153)caG>caA p.Q51Q ATF7IP2_ENST00000324570.5_Silent_p.Q51Q|ATF7IP2_ENST00000356427.2_Silent_p.Q51Q|ATF7IP2_ENST00000396559.1_Silent_p.Q51Q|ATF7IP2_ENST00000543967.1_Intron NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 GCGGTAATCAGAGTTTCAGTC 0.408000 21 26 0 0 0.062417 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 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 37 46 0 0 0.074837 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 3 26 0 0 0.150653 0 0 TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-ET-A3BP-01A-21D-A19J-08 TCGA-ET-A3BP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38e76335-cbaa-4fa3-a6dc-699dff962ddb 87416984-7a05-45a1-89c1-b48a30cc6f22 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 4 8 --- --- --- ---