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 SLIT1 6585 broad.mit.edu 37 10 98778790 98778790 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr10:98778790G>C ENST00000266058.4 - 27 3066 c.2821C>G c.(2821-2823)Cac>Gac p.H941D ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 941 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGGTCGTTGTGGCAGGTGCCC 0.637000 4 30 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80011174 80011174 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr17:80011174G>A ENST00000392358.2 + 2 527 c.178G>A c.(178-180)Gac>Aac p.D60N GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|GPS1_ENST00000306823.6_Missense_Mutation_p.D20N|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|GPS1_ENST00000355130.2_Missense_Mutation_p.D60N NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 20 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CATGCAGATCGACGTGGACCC 0.662000 6 14 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 51 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79629684 79629684 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr8:79629684G>A ENST00000263849.4 + 9 1036 c.934G>A c.(934-936)Gcc>Acc p.A312T NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 312 TGTAGAATGGGCCAAATTTTG 0.358000 4 134 0 0 1 0 0 RPL27A 6157 broad.mit.edu 37 11 8705560 8705560 + Missense_Mutation SNP C C A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr11:8705560C>A ENST00000314138.6 + 3 478 c.75C>A c.(73-75)caC>caA p.H25Q RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q NM_000990.4 NP_000981.1 P46776 RL27A_HUMAN ribosomal protein L27a 25 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGGCAAGCACCGGAAGCACC 0.552000 15 98 9.16793e-09 1.0133e-08 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 98 0 0 1 0 0 H2AFX 3014 broad.mit.edu 37 11 118965944 118965944 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr11:118965944G>A ENST00000530167.1 - 1 233 c.161C>T c.(160-162)gCa>gTa p.A54V NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 54 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CTCCAGCACTGCCGCCAGGTA 0.701000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594164 179594164 + Missense_Mutation SNP C C A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr2:179594164C>A ENST00000589042.1 - 64 18943 c.18719G>T c.(18718-18720)cGa>cTa p.R6240L TTN_ENST00000591111.1_Missense_Mutation_p.R5923L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5923 Ig-like 43. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGCTGCTTCGAATTTCCCT 0.448000 27 61 1.50538e-07 1.58065e-07 1 1 0 POLR3A 11128 broad.mit.edu 37 10 79769406 79769406 + Missense_Mutation SNP T T C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr10:79769406T>C ENST00000372371.3 - 14 1935 c.1798A>G c.(1798-1800)Atc>Gtc p.I600V NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 600 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) ACACTGAAGATCTGCTTTCCC 0.582000 27 52 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr8:9609296G>A ENST00000310430.6 + 19 3036 c.3010G>A c.(3010-3012)Gta>Ata p.V1004I TNKS_ENST00000518281.1_Missense_Mutation_p.V767I NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1004 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542000 4 137 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793532 186793532 + Nonsense_Mutation SNP G G T TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr3:186793532G>T ENST00000169298.3 + 8 1836 c.1162G>T c.(1162-1164)Gag>Tag p.E388* ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157* NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 388 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGGCACAGATGAGGACATCTA 0.507000 7 46 0.0293803 0.0293803 1 1 0 SPG11 80208 broad.mit.edu 37 15 44955823 44955823 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr15:44955823G>C ENST00000261866.7 - 1 39 c.23C>G c.(22-24)gCg>gGg p.A8G SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 8 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGCAGCACTCGCGACCCCTTC 0.687000 6 12 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 4 45 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46290019 46290019 + Missense_Mutation SNP G G C TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr19:46290019G>C ENST00000270223.6 - 3 780 c.735C>G c.(733-735)caC>caG p.H245Q DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 245 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) AGGCGCAGGGGTGGCTGACGT 0.627000 10 61 0 0 1 0 0 CTC-431G16.2 0 broad.mit.edu 37 5 79107198 79107198 + RNA DEL G G - TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr5:79107198delG ENST00000421252.2 - 0 71 AAATGTCTTTGGGGGGGAACT 0.552 2 4 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 2 4 --- --- --- --- TMEM120A 83862 broad.mit.edu 37 7 75618546 75618546 + RNA DEL G G - TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr7:75618546delG ENST00000493111.2 - 0 317 TMEM120A_ENST00000338761.4_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GTACAATCTAGGGAAGGGGGT 0.647 2 4 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-SR-A6MR-01A-11D-A35I-08 TCGA-SR-A6MR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 488efb24-a310-458d-ad35-4f1d2327cb7e adc91270-684e-495b-90c5-0496f03134b8 g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 3 5 --- --- --- ---