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 ANO8 57719 broad.mit.edu 37 19 17444305 17444305 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr19:17444305G>A ENST00000159087.4 - 3 434 c.276C>T c.(274-276)ccC>ccT p.P92P NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 92 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CGATGAGCTCGGGAATGCCCA 0.652000 4 92 0 0 1 0 0 C10orf91 170393 broad.mit.edu 37 10 134261549 134261549 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr10:134261549C>T ENST00000392630.3 + 3 483 c.422C>T c.(421-423)gCg>gTg p.A141V C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 141 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) TTCAGGAATGCGGCCTTCGAA 0.662000 4 91 0 0 1 0 0 LINC00933 100506874 broad.mit.edu 37 15 85121267 85121267 + RNA SNP C C T rs144259916 by1000genomes TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr15:85121267C>T ENST00000557887.1 + 0 467 NR_038273.1|NR_038274.1 GGAGGCCAGCCGAACACACAG 0.473000 4 67 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53295659 53295659 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr12:53295659G>A ENST00000552551.1 - 3 954 c.522C>T c.(520-522)gaC>gaT p.D174D KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000546897.1_Silent_p.D174D P05787 K2C8_HUMAN keratin 8 174 Coil 1B.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCTTGAAGTCCTCCACCA 0.592000 13 18 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48327637 48327637 + Missense_Mutation SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr7:48327637G>A ENST00000435803.1 + 20 8941 c.8917G>A c.(8917-8919)Gct>Act p.A2973T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2973 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CATTTTATCTGCTATACAAGG 0.448000 4 89 0 0 1 0 0 PTTG1IP 754 broad.mit.edu 37 21 46271411 46271411 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr21:46271411G>A ENST00000445724.2 - 3 374 c.300C>T c.(298-300)tgC>tgT p.C100C PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000330938.3_3'UTR|PTTG1IP_ENST00000397887.3_3'UTR P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 0 protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCAGGAGACCGCAATGGCCAC 0.622000 3 37 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 76886309 76886309 + Missense_Mutation SNP G G C TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr18:76886309G>C ENST00000426216.2 + 5 618 c.601G>C c.(601-603)Gaa>Caa p.E201Q ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 201 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) AGCAATTGATGAATTTCGGCG 0.348000 5 79 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606265 1606265 + Missense_Mutation SNP G G C TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr11:1606265G>C ENST00000382171.2 - 1 248 c.215C>G c.(214-216)tCt>tGt p.S72C KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 72 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGAGCCCCCAGAAGAGCCACA 0.677000 3 103 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97373550 97373550 + Silent SNP A A G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr2:97373550A>G ENST00000264963.4 - 7 827 c.805T>C c.(805-807)Ttg>Ctg p.L269L LMAN2L_ENST00000537039.1_Silent_p.L131L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000377079.4_Silent_p.L280L NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 269 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 AACAACTTCAAGGAAATGACA 0.418000 4 75 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64323500 64323500 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr11:64323500C>T ENST00000301891.4 + 1 403 c.29C>T c.(28-30)gCc>gTc p.A10V SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 10 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TTGGAGCAAGCCGGAGGCGTG 0.592000 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 29 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942999 154942999 + Missense_Mutation SNP C C G TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr1:154942999C>G ENST00000448116.2 - 1 224 c.4G>C c.(4-6)Gat>Cat p.D2H SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368445.5_Missense_Mutation_p.D2H|SHC1_ENST00000368453.4_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 2 D -> N (in Ref. 3; CAA70977). activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCAGGAGATCCATAGTTGAG 0.647000 32 28 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833944 61833944 + Missense_Mutation SNP C C T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr10:61833944C>T ENST00000280772.1 - 37 6886 c.6695G>A c.(6694-6696)cGg>cAg p.R2232Q ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2232 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTTAAAACCCGATTGTGGTC 0.413000 6 127 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139118701 139118701 + Silent SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr9:139118701G>A ENST00000358701.5 - 2 385 c.348C>T c.(346-348)cgC>cgT p.R116R NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 116 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GAGCTGCGACGCGAATGGCAC 0.607000 OREG0019616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 35 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3350052 3350052 + Missense_Mutation SNP G G A TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr16:3350052G>A ENST00000396862.1 - 2 2391 c.563C>T c.(562-564)cCa>cTa p.P188L TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 188 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 agaattttctggcattgactt 0.408000 7 160 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 10 0.014758 0.014758 1 1 0 FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 3 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 6 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-QR-A70X-01A-11D-A35D-08 TCGA-QR-A70X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9741731b-8f71-465d-9cfb-9e54e678c9a4 e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 7 53 --- --- --- ---