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 RFWD2 64326 broad.mit.edu 37 1 176132079 176132079 + Nonsense_Mutation SNP G G A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr1:176132079G>A ENST00000367669.3 - 5 1202 c.688C>T c.(688-690)Caa>Taa p.Q230* RFWD2_ENST00000308769.8_Nonsense_Mutation_p.Q226* NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 230 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AGGTTATCTTGGTCAGTTCCC 0.368000 8 70 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 3 34 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23532675 23532675 + Missense_Mutation SNP G G A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr14:23532675G>A ENST00000262710.1 - 13 3208 c.2881C>T c.(2881-2883)Ccc>Tcc p.P961S ACIN1_ENST00000555053.1_Missense_Mutation_p.P948S|ACIN1_ENST00000457657.1_Missense_Mutation_p.P921S|ACIN1_ENST00000557515.1_Missense_Mutation_p.P202S|ACIN1_ENST00000397341.3_Missense_Mutation_p.P203S|ACIN1_ENST00000357481.2_Missense_Mutation_p.P203S|ACIN1_ENST00000338631.6_Missense_Mutation_p.P234S|ACIN1_ENST00000605057.1_Missense_Mutation_p.P903S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 961 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GCAGGTGGGGGCAAGGCCACC 0.517000 3 58 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30858119 30858119 + Missense_Mutation SNP C C A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr22:30858119C>A ENST00000403066.1 - 10 831 c.548G>T c.(547-549)gGg>gTg p.G183V SEC14L3_ENST00000415957.2_Missense_Mutation_p.G183V|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G183V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G242V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G183V Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 242 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CAGGGTGCCCCCAAACTGGGC 0.517000 3 32 0.00024832 0.000275911 1 1 0 TRIM51HP 0 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 4 36 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 3 44 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 6 84 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 86 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115524063 115524063 + Missense_Mutation SNP G G A TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr1:115524063G>A ENST00000369522.3 + 29 2729 c.2489G>A c.(2488-2490)gGc>gAc p.G830D SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.G830D NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 830 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTGATCATGGCATATCCAAA 0.333000 4 82 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112720 81112720 + Missense_Mutation SNP C C T TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr12:81112720C>T ENST00000228644.3 + 3 810 c.658C>T c.(658-660)Cct>Tct p.P220S NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 220 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CTCAGAGCAACCTGGGTTGCC 0.488000 14 71 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101667847 101667847 + Missense_Mutation SNP G G A rs114927649 byFrequency TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr10:101667847G>A ENST00000342239.3 - 6 2550 c.2459C>T c.(2458-2460)cCa>cTa p.P820L DNMBP_ENST00000324109.4_Missense_Mutation_p.P820L|DNMBP_ENST00000543621.1_Missense_Mutation_p.P66L Q6XZF7 DNMBP_HUMAN dynamin binding protein 820 DH. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATCAATGTTTGGTACCTGAGA 0.368000 3 35 0 0 1 0 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 3 15 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084791 17084791 + RNA DEL A A - TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr1:17084791delA ENST00000455405.2 - 0 228 GGCCCTGCCTAGAGGAGTGGG 0.582 5 7 --- --- --- --- AC007255.7 0 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 7 45 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA AAAAAAAAAAACCCCACCTAAT 0.376 9 15 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-DU-6406-01A-11D-1705-08 TCGA-DU-6406-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17569950-b826-4112-bf60-5a82c88a345a 3029907d-e2f8-42c8-a7bd-56c8d3fa319e g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 8 685 --- --- --- ---