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 HFM1 164045 broad.mit.edu 37 1 91859787 91859787 + Silent SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr1:91859787G>A ENST00000370425.3 - 4 455 c.357C>T c.(355-357)ggC>ggT p.G119G HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 119 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATGTCAGCTTGCCAGCAATAT 0.343 8 70 --- --- --- --- GON4L 54856 broad.mit.edu 37 1 155732049 155732049 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr1:155732049C>T ENST00000437809.1 - 23 4965 c.4843G>A c.(4843-4845)Gac>Aac p.D1615N GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1615 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCGAGAATGTCCTCATCATAC 0.552 3 25 --- --- --- --- TM4SF4 7104 broad.mit.edu 37 3 149192703 149192703 + Silent SNP C C G TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr3:149192703C>G ENST00000305354.4 + 1 943 c.39C>G c.(37-39)acC>acG p.T13T NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 13 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGGGGGGGACCCTCATTCCCC 0.527 3 36 --- --- --- --- PDS5A 23244 broad.mit.edu 37 4 39978175 39978175 + Missense_Mutation SNP T T C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr4:39978175T>C ENST00000303538.8 - 2 562 c.23A>G c.(22-24)aAg>aGg p.K8R PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 8 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AGTGGCAGGCTTGGGCTGCGC 0.587 OREG0016159 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 68 --- --- --- --- HDAC3 8841 broad.mit.edu 37 5 141005259 141005259 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr5:141005259G>A ENST00000305264.3 - 13 1131 c.1052C>T c.(1051-1053)tCa>tTa p.S351L AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_Intron NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 351 anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GACCTGGCGTGAGTTCTGATT 0.498 7 43 --- --- --- --- GNL1 2794 broad.mit.edu 37 6 30515194 30515194 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr6:30515194G>A ENST00000376621.3 - 9 2183 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 405 G. response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TTCACAGAGGGGGTAAGAAAG 0.562 21 197 --- --- --- --- C9orf9 11092 broad.mit.edu 37 9 135765348 135765348 + Missense_Mutation SNP C C T rs2231412 TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr9:135765348C>T ENST00000350499.6 + 5 654 c.500C>T c.(499-501)aCg>aTg p.T167M C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR NM_018956.3 NP_061829.3 Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 0 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) TCACAGGGGACGACTTAGCTT 0.448 21 303 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57864213 57864213 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr12:57864213C>T ENST00000228682.2 + 12 1781 c.1690C>T c.(1690-1692)Cct>Tct p.P564S GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 564 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCTGGCCTCTCCTTTCCCCCC 0.647 5 42 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46554093 46554093 + Missense_Mutation SNP A A C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr13:46554093A>C ENST00000242848.4 - 11 2115 c.1767T>G c.(1765-1767)aaT>aaG p.N589K ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 589 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GATAGTTGCTATTACTACTGT 0.383 4 58 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003250 42003250 + Nonsense_Mutation SNP C C G TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr15:42003250C>G ENST00000219905.7 + 8 2968 c.2787C>G c.(2785-2787)taC>taG p.Y929* MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 929 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGCAGAAATACTCTCATGTGA 0.378 12 100 --- --- --- --- TMEM5 10329 broad.mit.edu 37 12 64199185 64199186 + Splice_Site INS - - T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr12:64199185_64199186insT ENST00000537373.1 + 5 1082 c.e5+1 TMEM5_ENST00000261234.6_Splice_Site NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CAAGAGAACAGTAAGTTCTATG 0.347 7 82 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37677872 37677873 + Frame_Shift_Ins INS - - T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr19:37677872_37677873insT ENST00000532828.2 - 5 817_818 c.566_567insA c.(565-567)aatfs p.N189fs ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCACATTCATTGCACTTATA 0.376 15 165 --- --- --- ---