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 ZFPM2 23414 broad.mit.edu 37 8 106814523 106814523 + Missense_Mutation SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr8:106814523G>A ENST00000407775.2 + 8 2463 c.2213G>A c.(2212-2214)cGc>cAc p.R738H RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 738 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACACGCAAGCGCAGAAAGATG 0.507000 5 20 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157773734 157773734 + Missense_Mutation SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr1:157773734C>T ENST00000358292.3 - 3 271 c.220G>A c.(220-222)Gct>Act p.A74T FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 74 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CACATGGCAGCGATCTGGAGC 0.557000 8 71 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59060418 59060418 + Missense_Mutation SNP A A T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr19:59060418A>T ENST00000253024.5 + 12 1762 c.1473A>T c.(1471-1473)gaA>gaT p.E491D TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 491 HP1 box. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGAGCCTTGAACGCCTGGACC 0.582000 4 15 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134909215 134909215 + Silent SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr10:134909215G>A ENST00000607359.1 + 11 2094 c.2094G>A c.(2092-2094)cgG>cgA p.R698R GPR123_ENST00000392607.3_Intron Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGGCTGGACGGACAAGAAGTG 0.642000 3 21 0 0 1 0 0 RPL7 6129 broad.mit.edu 37 8 74205006 74205006 + Missense_Mutation SNP A A C TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr8:74205006A>C ENST00000352983.2 - 2 326 c.41T>G c.(40-42)gTg>gGg p.V14G RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396467.1_5'UTR P18124 RL7_HUMAN ribosomal protein L7 14 4 X 12 AA tandem repeats. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) GGTTTCTGGCACAGCAGGAAC 0.413000 7 41 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 44 0.00198382 0.00204781 1 1 0 GOLGA8EP 0 broad.mit.edu 37 15 23444052 23444052 + RNA SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr15:23444052G>A ENST00000526079.1 + 0 1696 NR_027407.1|NR_033350.1 GAGGCACCTCGGCCCATGCCG 0.607000 3 49 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981427 75981427 + Missense_Mutation SNP C C T rs142305247 byFrequency TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr15:75981427C>T ENST00000308508.5 - 3 2071 c.1979G>A c.(1978-1980)cGg>cAg p.R660Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 660 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TATGGCCGGCCGGATGGCCAC 0.662000 3 49 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79672824 79672824 + Silent SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr6:79672824C>T ENST00000275034.4 - 30 3692 c.3525G>A c.(3523-3525)ttG>ttA p.L1175L PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1175 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTAGTGTCATCAACTGGTTTA 0.373000 7 172 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85569757 85569757 + Missense_Mutation SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr4:85569757C>T ENST00000295887.5 + 13 1727 c.1304C>T c.(1303-1305)cCt>cTt p.P435L NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 435 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GTGCTTCAACCTGAACAGCAG 0.403000 11 39 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124050622 124050622 + Missense_Mutation SNP A A G TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr10:124050622A>G ENST00000368994.2 + 7 757 c.506A>G c.(505-507)tAc>tGc p.Y169C BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 168 BTB. breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AAGAACCTCTACATGAGTGAG 0.582000 25 85 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487019 248487019 + Missense_Mutation SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr1:248487019C>T ENST00000317965.2 - 1 880 c.852G>A c.(850-852)atG>atA p.M284I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGGATTCAGCATGGGAGTGA 0.438000 7 46 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371196 55371196 + Silent SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr11:55371196G>A ENST00000302231.4 - 1 678 c.654C>T c.(652-654)gtC>gtT p.V218V NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AATGCAAGATGACAATATATG 0.413000 25 77 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68084687 68084687 + Missense_Mutation SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr8:68084687G>A ENST00000262210.5 + 23 2881 c.2850G>A c.(2848-2850)atG>atA p.M950I CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 985 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TATTTGATATGGCTAGACATC 0.378000 12 65 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129854464 129854464 + Silent SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr10:129854464C>T ENST00000254667.3 + 7 777 c.498C>T c.(496-498)ccC>ccT p.P166P PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Silent_p.P108P NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 166 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) ACAGATATCCCAACATCCTTC 0.393000 21 121 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045763 9045763 + Silent SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr19:9045763G>A ENST00000397910.4 - 5 36071 c.35868C>T c.(35866-35868)acC>acT p.T11956T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11958 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 CTCCATGACTGGTTTTAGGTG 0.478000 13 54 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31334212 31334212 + Missense_Mutation SNP C C T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr15:31334212C>T ENST00000542188.1 - 16 2393 c.2080G>A c.(2080-2082)Gag>Aag p.E694K TRPM1_ENST00000256552.6_Missense_Mutation_p.E677K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E655K NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 655 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCGGAGGACTCGTGGGCCATG 0.547000 12 66 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747100 158747100 + Missense_Mutation SNP G G A rs139851411 byFrequency TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr1:158747100G>A ENST00000339258.1 - 1 325 c.326C>T c.(325-327)gCg>gTg p.A109V NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GCATTCAGACGCTCCCAAGGA 0.468000 14 47 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681981 100681981 + Silent SNP C C G rs148310097 byFrequency TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr7:100681981C>G ENST00000306151.4 + 3 7348 c.7284C>G c.(7282-7284)gtC>gtG p.V2428V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2428 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTCACCACTTCTA 0.522000 4 311 0 0 1 0 0 RARRES1 0 broad.mit.edu 37 3 158428676 158428676 + Missense_Mutation SNP C C G TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr3:158428676C>G ENST00000237696.5 - 3 666 c.386G>C c.(385-387)cGa>cCa p.R129P RARRES1_ENST00000479756.1_Missense_Mutation_p.R129P|RARRES1_ENST00000498640.1_Intron NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 129 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) GAAAAACACTCGAGCAGAACA 0.438000 43 138 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 46 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806306 22806306 + Missense_Mutation SNP A A G TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr18:22806306A>G ENST00000361524.3 - 4 1724 c.1576T>C c.(1576-1578)Tct>Cct p.S526P ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 526 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCAGGGAAGAGTCAGTGAGA 0.463000 T PAX5 ALL 14 45 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201195063 201195063 + Missense_Mutation SNP C C T rs139600545 TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr1:201195063C>T ENST00000335211.4 + 22 10728 c.10598C>T c.(10597-10599)gCg>gTg p.A3533V IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTGCACTACGCGGTGTTCACA 0.687000 6 19 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 45 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1553813 1553813 + Missense_Mutation SNP G G A TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr12:1553813G>A ENST00000397203.2 + 18 3516 c.3110G>A c.(3109-3111)cGa>cAa p.R1037Q ERC1_ENST00000543086.3_Missense_Mutation_p.R1009Q|ERC1_ENST00000546231.2_Missense_Mutation_p.R1041Q|ERC1_ENST00000589028.1_Missense_Mutation_p.R1037Q|ERC1_ENST00000360905.4_Missense_Mutation_p.R1037Q|ERC1_ENST00000355446.5_Missense_Mutation_p.R1037Q Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 1037 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TGCCATGACCGAGACCCCCTG 0.498000 15 65 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134183365 134183365 + Silent SNP C C T rs143064692 byFrequency TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr9:134183365C>T ENST00000372264.3 + 2 811 c.507C>T c.(505-507)cgC>cgT p.R169R NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 169 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TCAAGCGGCGCGGCCCGTACG 0.687000 10 29 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31416396 31416396 + Missense_Mutation SNP G G T TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr14:31416396G>T ENST00000355683.5 - 5 831 c.616C>A c.(616-618)Cta>Ata p.L206I STRN3_ENST00000357479.5_Missense_Mutation_p.L206I NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 206 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) GAATTAGATAGTCCAAGTAAT 0.343000 4 134 1 1 1 1 0 HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 2 4 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1594921 1594922 + Frame_Shift_Del DEL AG AG - TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr7:1594921_1594922delAG ENST00000297477.5 - 2 515_516 c.199_200delCT c.(199-201)gfs p.L67fs NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 67 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GGTGAGCACCAGGGCAGTCCAC 0.688 2 4 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058941 79058943 + In_Frame_Del DEL CGC CGC - TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chr15:79058941_79058943delCGC ENST00000388820.4 - 19 3520_3522 c.3310_3312delGCG c.(3310-3312)del p.A1104del NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCGTGGAGGGCGCAGCAGGATGG 0.680 4 7 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-KK-A8IC-01A-11D-A364-08 TCGA-KK-A8IC-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa9f4535-3165-48c4-a3be-a76526deece3 9a7279b2-607d-41b8-bee0-226b1ae34c08 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 7 179 --- --- --- ---