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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 64 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29976024 29976024 + RNA SNP C C G rs3765604 byFrequency TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr6:29976024C>G ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA ATAACGAGGTCCTGGGTTCTG 0.592000 11 19 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34233642 34233642 + RNA SNP G G A rs9912284 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr17:34233642G>A ENST00000587132.1 - 0 4385 TGGAGATTCAGCTGAAGTCTC 0.517000 3 23 0 0 1 0 0 C14orf182 283551 broad.mit.edu 37 14 50472373 50472373 + Nonsense_Mutation SNP G G A TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr14:50472373G>A ENST00000399206.1 - 1 1865 c.145C>T c.(145-147)Cga>Tga p.R49* C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 49 p.R49*(1) large_intestine(2)|urinary_tract(1) 3 TGTCTGTGTCGTAGAACTGTG 0.527000 7 94 0 0 1 0 0 TRBV7-1 0 broad.mit.edu 37 7 142032030 142032030 + RNA SNP G G A TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr7:142032030G>A ENST00000547918.2 + 0 25 ATCCTGCCCTGACCCTGCCAT 0.562000 3 9 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553738 53553738 + Silent SNP G G A rs140879455 byFrequency TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr1:53553738G>A ENST00000371494.4 - 11 1753 c.1626C>T c.(1624-1626)ccC>ccT p.P542P SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 542 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GACTCGCAGCGGGCAGCTCCT 0.657000 9 17 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34233451 34233451 + RNA SNP C C T rs9913488 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr17:34233451C>T ENST00000587132.1 - 0 4576 TCATGACTTACAGGAGAAACT 0.478000 3 13 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129810128 129810128 + RNA SNP G G A rs6804080 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr3:129810128G>A ENST00000514010.1 - 0 248 ALG1L2_ENST00000507643.1_RNA ACGACAAGCCGGCATCTTTCT 0.562000 3 22 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b 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 19 28 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912159 43912159 + Missense_Mutation SNP G G C rs147754108 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr17:43912159G>C ENST00000339069.5 + 13 1469 c.838G>C c.(838-840)Gag>Cag p.E280Q CRHR1_ENST00000398285.3_3'UTR|CRHR1_ENST00000314537.5_3'UTR P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 0 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) AGCCCCCAAAGAGCTGTGGCT 0.632000 3 24 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167549983 167549983 + Missense_Mutation SNP G G A rs138813075 TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr6:167549983G>A ENST00000341935.5 + 3 817 c.265G>A c.(265-267)Gcc>Acc p.A89T CCR6_ENST00000400926.2_Missense_Mutation_p.A89T|CCR6_ENST00000349984.4_Missense_Mutation_p.A89T NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 89 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CTTGAACATGGCCATTGCAGA 0.483000 6 91 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129810158 129810158 + RNA SNP C C T rs6803922 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr3:129810158C>T ENST00000514010.1 - 0 248 ALG1L2_ENST00000507643.1_RNA CACCTCTGGACCTGCAGCACC 0.587000 3 24 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53387315 53387315 + Frame_Shift_Del DEL A A - TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr1:53387315delA ENST00000371522.4 - 1 124 c.31delT c.(31-33)ggfs p.W11fs ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.W11fs|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 11 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 AGGGGCCTCCAGGGGCGCAGG 0.721 2 4 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 8 18 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 2 4 --- --- --- --- MTNR1B 4544 broad.mit.edu 37 11 92702938 92702939 + Frame_Shift_Del DEL GG GG - TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr11:92702938_92702939delGG ENST00000257068.2 + 1 53_54 c.47_48delGG c.(46-48)tfs p.W16fs NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 16 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCGGGCGGGTGGGCAGTGCGCC 0.738 2 4 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 5 9 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22892201 22892202 + RNA INS - - A TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr14:22892201_22892202insA ENST00000514473.2 - 0 225 AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA actaaaaatacaaaaaaaaaaa 0.545 3 3 --- --- --- --- MIR381HG 0 broad.mit.edu 37 14 101514903 101514904 + RNA INS - - GTGT rs112074030 by1000genomes TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr14:101514903_101514904insGTGT ENST00000553692.1 + 0 28 GCACCTCTGGGgtgtgtgtgtg 0.465 3 2 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 7 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089300 61089304 + RNA DEL TTCTT TTCTT - rs80101907 TCGA-KS-A4IC-01A-11D-A257-08 TCGA-KS-A4IC-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b939830-9a29-462c-bd04-f0d28ca0c45e 25dd404d-6a59-4092-9341-0dab7893de8b g.chr16:61089300_61089304delTTCTT ENST00000591758.1 - 0 564_566 TAGCttcttcttctttttttttttt 0.239 7 13 --- --- --- ---