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 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 40 0 0 1 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43483811 43483811 + Silent SNP G G C TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr15:43483811G>C ENST00000300213.4 + 8 1040 c.798G>C c.(796-798)ggG>ggC p.G266G EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 266 Interaction with RPLP0.|Interaction with TCF3. cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) CAGAGAATGGGAAGAAGGATC 0.502000 19 21 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 6 203 0.248553 0.248553 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab 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 9 121 0 0 1 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598589 144598589 + RNA SNP C C T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:144598589C>T ENST00000419820.1 + 0 517 CGTCCCTTACCGTCCTCCTGA 0.547000 5 5 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462776 21462776 + Missense_Mutation SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr3:21462776G>A ENST00000281523.2 - 8 1636 c.1118C>T c.(1117-1119)cCg>cTg p.P373L NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 373 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CAGGAGTGCCGGAGGAAGCGC 0.562000 7 24 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27238482 27238482 + Missense_Mutation SNP C C A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:27238482C>A ENST00000254227.3 - 2 653 c.628G>T c.(628-630)Gcc>Tcc p.A210S NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 210 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CGGCCTTGGGCTGCTGGGCAC 0.632000 3 33 0.004672 0.004964 1 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55341599 55341599 + Missense_Mutation SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr19:55341599G>A ENST00000391728.4 + 9 1237 c.1204G>A c.(1204-1206)Gat>Aat p.D402N KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CGCACAGTTGGATCACTGCGT 0.512000 4 159 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480359 10480359 + Missense_Mutation SNP C C T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr8:10480359C>T ENST00000382483.3 - 2 576 c.353G>A c.(352-354)cGg>cAg p.R118Q RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 118 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCCTGTGGCCGGCCTGGTCC 0.637000 9 18 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52812034 52812034 + Splice_Site SNP G G A TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr3:52812034G>A ENST00000273283.2 + 2 162 c.e2+1 ITIH1_ENST00000542827.1_Splice_Site NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGTGGACACCGTGAGTAAGAG 0.562000 26 48 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 3 4 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 4 7 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCT rs58327065 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr1:154842199_154842200insGCT ENST00000271915.3 - 1 556_557 c.241_242insAGC c.(241-243)acc>AGCacc p.80_81insS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 4 6 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 3 5 --- --- --- --- HLA-DRB1 3123 broad.mit.edu 37 6 32557568 32557569 + Translation_Start_Site INS - - AT rs17204758 TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chr6:32557568_32557569insAT ENST00000360004.5 - 0 56_57 NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GCAAGTCTCACTCAGGGAGAAC 0.540 Multiple Myeloma(14;0.17) 2 4 --- --- --- --- CXXC1P1 392459 broad.mit.edu 37 X 47578328 47578329 + RNA INS - - T TCGA-WB-A80P-01A-11D-A35I-08 TCGA-WB-A80P-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b738a6fa-3913-4871-a238-8d35eb83ab7a 3fa2967a-2520-49b6-b916-8602676679ab g.chrX:47578328_47578329insT ENST00000483225.1 + 0 195 NR_033924.1 CAAAGCTGCCGTTTTTTTGTGT 0.495 2 4 --- --- --- ---