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 DIP2C 22982 broad.mit.edu 37 10 436251 436251 + Missense_Mutation SNP A A T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr10:436251A>T ENST00000280886.6 - 12 1534 c.1447T>A c.(1447-1449)Tgg>Agg p.W483R DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 483 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGTGGGAACCAGTCTCGGGGC 0.483000 3 82 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161530825 161530825 + Silent SNP G G A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr6:161530825G>A ENST00000392142.4 + 23 4423 c.4275G>A c.(4273-4275)ggG>ggA p.G1425G MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000348824.7_Silent_p.G1371G|MAP3K4_ENST00000366920.2_Silent_p.G1421G NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1425 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGATGAGGGGACTTTAGAAG 0.463000 22 47 0 0 1 0 0 FAM66D 0 broad.mit.edu 37 8 11986719 11986719 + RNA SNP G G C TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr8:11986719G>C ENST00000434078.2 + 0 608 NR_027425.1 TGGATTTCAGGAAAAGCTGCA 0.522000 3 36 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31098181 31098181 + Missense_Mutation SNP A A G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr16:31098181A>G ENST00000280606.6 - 4 434 c.281T>C c.(280-282)cTg>cCg p.L94P NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 94 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 CAGAGAACCCAGGACCACTGA 0.612000 3 44 0 0 1 0 0 DCAF15 90379 broad.mit.edu 37 19 14066828 14066828 + Missense_Mutation SNP C C G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:14066828C>G ENST00000254337.6 + 4 492 c.471C>G c.(469-471)ttC>ttG p.F157L NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 157 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 TCTTCGGCTTCAAGTGAGACC 0.662000 3 55 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79029294 79029294 + Nonsense_Mutation SNP C C A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr5:79029294C>A ENST00000446378.2 + 2 4737 c.4706C>A c.(4705-4707)tCa>tAa p.S1569* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1569 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACAGCAAGTTCATCTCCTGAG 0.408000 5 130 1 1 1 1 0 ZNF554 115196 broad.mit.edu 37 19 2834829 2834829 + Missense_Mutation SNP C C G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:2834829C>G ENST00000317243.5 + 5 1794 c.1596C>G c.(1594-1596)aaC>aaG p.N532K NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTACCAGAACAGACATCTTA 0.423000 27 62 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66842495 66842495 + Missense_Mutation SNP T T A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr16:66842495T>A ENST00000379463.2 - 18 1433 c.1241A>T c.(1240-1242)gAt>gTt p.D414V NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000290810.3_Missense_Mutation_p.D420V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 420 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TATTTCATTATCTGGATTGTC 0.308000 21 134 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170819 113170819 + Missense_Mutation SNP A A G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr9:113170819A>G ENST00000401783.2 - 38 7397 c.7061T>C c.(7060-7062)gTc>gCc p.V2354A SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2354 Sushi 16. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCTTGCAGGACATGCCCTTC 0.498000 9 23 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35738505 35738505 + Missense_Mutation SNP G G T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr13:35738505G>T ENST00000540320.1 + 24 4626 c.4092G>T c.(4090-4092)aaG>aaT p.K1364N NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N|NBEA_ENST00000400445.3_Missense_Mutation_p.K1364N Q8NFP9 NBEA_HUMAN neurobeachin 1364 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATTCTACAAAGTCTGTAATGG 0.289000 3 11 0.004672 0.00491159 1 1 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 3 16 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 3 49 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 71 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73065175 73065175 + RNA SNP G G A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chrX:73065175G>A ENST00000429829.1 - 0 7413 NR_001564.2 CTGCTGTACTGCAAAAAGGGT 0.473000 6 93 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128744415 128744415 + Silent SNP G G C TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr2:128744415G>C ENST00000357702.5 - 14 2111 c.1980C>G c.(1978-1980)ccC>ccG p.P660P SAP130_ENST00000259234.6_Silent_p.P633P|SAP130_ENST00000259235.3_Silent_p.P660P NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 660 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AGCCCTGGGCGGGAGCGTTGG 0.572000 28 66 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 102 0 0 1 0 0 EI24 9538 broad.mit.edu 37 11 125453434 125453434 + Missense_Mutation SNP C C G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr11:125453434C>G ENST00000343678.4 + 11 1006 c.764C>G c.(763-765)tCt>tGt p.S255C EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L NM_001007277.1 NP_001007278.1 O14681 EI24_HUMAN etoposide induced 2.4 0 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) AGTTGCGCCTCTTCTCCTTGG 0.448000 6 13 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 13 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 6 41 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615655 140615655 + RNA SNP A A G TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr5:140615655A>G ENST00000526308.1 + 0 1718 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 AACGCGGACAACGGCCACCTA 0.677000 42 155 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791718 42791718 + Missense_Mutation SNP C C T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:42791718C>T ENST00000572681.2 + 6 3399 c.3331C>T c.(3331-3333)Cgg>Tgg p.R1111W CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W Q96RK0 CIC_HUMAN capicua transcriptional repressor 202 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R202W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCACATCCGGCGGCCCATGAA 0.622000 """Mis, F, S""" oligodendroglioma 6 29 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791752 42791752 + Missense_Mutation SNP G G C TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:42791752G>C ENST00000572681.2 + 6 3433 c.3365G>C c.(3364-3366)cGg>cCg p.R1122P CIC_ENST00000575354.2_Missense_Mutation_p.R213P|CIC_ENST00000160740.3_Missense_Mutation_p.R213P Q96RK0 CIC_HUMAN capicua transcriptional repressor 213 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R213P(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTCAGCAAGCGGCACCGGGCC 0.617000 """Mis, F, S""" oligodendroglioma 8 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064360 9064360 + Missense_Mutation SNP C C T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:9064360C>T ENST00000397910.4 - 3 23289 c.23086G>A c.(23086-23088)Gtg>Atg p.V7696M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7698 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V7696M(2)|p.V3329M(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGAGGTCACGGCAGGTAAA 0.582000 5 73 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 34 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 41 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380102 56380102 + Missense_Mutation SNP G G A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr11:56380102G>A ENST00000526538.1 - 1 876 c.877C>T c.(877-879)Cgg>Tgg p.R293W NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TCTGTGTTCCGTAGGCTATAG 0.403000 10 170 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072585 134072585 + Silent SNP C C A rs140875995 TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr4:134072585C>A ENST00000264360.4 + 1 2116 c.1290C>A c.(1288-1290)acC>acA p.T430T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 430 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACTCCTACACCCTGACTGTAG 0.587000 12 139 9.05144e-12 9.76603e-12 1 1 0 TRPM6 140803 broad.mit.edu 37 9 77442828 77442828 + Missense_Mutation SNP C C T TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr9:77442828C>T ENST00000451710.3 - 7 944 c.707G>A c.(706-708)aGc>aAc p.S236N TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S236N|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 236 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGTGAGCTTGCTGAGGGGGTT 0.537000 20 44 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 32 0 0 1 0 0 AP000889.3 0 broad.mit.edu 37 11 107463175 107463175 + Missense_Mutation SNP C C A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr11:107463175C>A ENST00000600612.1 + 2 386 c.373C>A c.(373-375)Ccg>Acg p.P125T ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron ACGTTTTGTGCCGGTGGCTTG 0.423000 3 48 0.00909568 0.00932307 1 1 0 CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 7 401 --- --- --- --- CLUH 23277 broad.mit.edu 37 17 2601322 2601322 + Frame_Shift_Del DEL G G - TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr17:2601322delG ENST00000570628.1 - 10 1820 c.1715delC c.(1714-1716)cgfs p.P572fs CLUH_ENST00000435359.1_Frame_Shift_Del_p.P572fs|CLUH_ENST00000575014.1_Frame_Shift_Del_p.P504fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.P572fs clustered mitochondria (cluA/CLU1) homolog p.P572L(1) GTTGAGGTCCGGGGGGAAGGT 0.692 3 5 --- --- --- --- SUGP1 57794 broad.mit.edu 37 19 19416875 19416875 + Frame_Shift_Del DEL G G - TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr19:19416875delG ENST00000247001.5 - 4 668 c.321delC c.(319-321)acfs p.T107fs SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Frame_Shift_Del_p.T107fs NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 107 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TGGGCGCACTGGTCGGGGCGT 0.697 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085429 11085431 + RNA DEL ACC ACC - TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43493bad-ec4b-422b-a8e0-ee8c5de1dbcb 8b0c047a-6768-4336-bb15-57d2fa140a0c g.chr21:11085429_11085431delACC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caccaccactaccaccaccacca 0.507 2 4 --- --- --- ---