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_status validation_method validation_tumor_sample validation_alt_allele filter PRDM16 63976 broad.mit.edu 37 1 3334561 3334561 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:3334561G>A uc001akf.2 + 11 2941 c.2861G>A c.(2860-2862)AGG>AAG p.R954K PRDM16_uc001akc.2_Missense_Mutation_p.R953K|PRDM16_uc001akd.2_Missense_Mutation_p.R953K|PRDM16_uc001ake.2_Missense_Mutation_p.R954K|PRDM16_uc009vlh.2_Missense_Mutation_p.R654K NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 954 Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TACACGTGCAGGTGAGGGGCC 0.652 T EVI1 MDS|AML 9 15 --- --- --- --- PASS SLC25A33 84275 broad.mit.edu 37 1 9613784 9613784 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:9613784C>G uc001apw.2 + 2 380 c.157C>G c.(157-159)CAG>GAG p.Q53E SLC25A33_uc001apx.2_5'UTR NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 53 Helical; Name=2; (Potential).|Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CTACTATCCTCAGGTTCATCT 0.478 17 38 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12409360 12409360 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:12409360G>A uc001atv.2 + 46 9501 c.9360G>A c.(9358-9360)GTG>GTA p.V3120V VPS13D_uc001atw.2_Silent_p.V3095V|VPS13D_uc001atx.2_Silent_p.V2307V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3119 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCAATGTAGTGAAGACTGCAG 0.468 30 76 --- --- --- --- PASS PQLC2 54896 broad.mit.edu 37 1 19652073 19652073 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:19652073C>A uc001bby.2 + 5 731 c.379C>A c.(379-381)CTG>ATG p.L127M PQLC2_uc001bbz.2_Missense_Mutation_p.L62M|PQLC2_uc001bca.2_Missense_Mutation_p.L127M|PQLC2_uc001bcb.2_Missense_Mutation_p.L16M|PQLC2_uc001bcc.2_Missense_Mutation_p.L16M NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 127 Cytoplasmic (Potential). integral to membrane 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGCCCCTCTCTGTGTGAGTA 0.557 5 34 --- --- --- --- PASS UBXN10 127733 broad.mit.edu 37 1 20517269 20517269 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:20517269A>G uc001bdb.2 + 2 299 c.215A>G c.(214-216)TAT>TGT p.Y72C NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN UBX domain protein 10 72 ovary(1) 1 GCCATTCCCTATGAGTTGCCA 0.567 27 52 --- --- --- --- PASS RPS8 6202 broad.mit.edu 37 1 45242381 45242381 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:45242381G>T uc001cmi.2 + 3 169 c.146G>T c.(145-147)CGG>CTG p.R49L SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank NM_001012 NP_001003 P62241 RS8_HUMAN ribosomal protein S8 49 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTCCGTGTGCGGGGAGGTAAC 0.567 11 23 --- --- --- --- PASS POMGNT1 55624 broad.mit.edu 37 1 46660018 46660018 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:46660018G>T uc001cpe.2 - 9 971 c.807C>A c.(805-807)TGC>TGA p.C269* POMGNT1_uc010olx.1_Nonsense_Mutation_p.C247*|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Nonsense_Mutation_p.C126*|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.C269*|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 269 Lumenal (Potential). C -> Y (in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CAACTTTGCTGCAGAAGCGCC 0.602 9 23 --- --- --- --- PASS BSND 7809 broad.mit.edu 37 1 55474046 55474046 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:55474046C>G uc001cye.2 + 4 951 c.708C>G c.(706-708)GAC>GAG p.D236E NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 236 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 GCCCGCTGGACCGCTTCCAAG 0.597 6 19 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037757 75037757 + Nonsense_Mutation SNP C A A rs143506603 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:75037757C>A uc001dgg.2 - 14 3856 c.3637G>T c.(3637-3639)GAG>TAG p.E1213* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1213 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AAGGCCCCCTCTCCATCTTGG 0.602 21 35 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038942 75038942 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:75038942G>T uc001dgg.2 - 14 2671 c.2452C>A c.(2452-2454)CAG>AAG p.Q818K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 818 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AATTCTGGCTGCTCTGCTGTT 0.552 18 67 --- --- --- --- PASS PIGK 10026 broad.mit.edu 37 1 77620189 77620189 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:77620189C>G uc001dhk.2 - 9 976 c.931G>C c.(931-933)GAA>CAA p.E311Q PIGK_uc010orj.1_Missense_Mutation_p.E235Q|PIGK_uc009wbx.2_Missense_Mutation_p.E217Q|PIGK_uc001dhl.1_Missense_Mutation_p.E311Q NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 311 Lumenal (Potential).|Essential for GPI attachment. Missing: Loss of activity. attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 GTTGTAATTTCCACTTTCCGT 0.363 11 25 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85488037 85488037 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:85488037G>T uc001dkp.2 - 10 1235 c.1142C>A c.(1141-1143)ACC>AAC p.T381N MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.T325N NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 381 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) CACGAGCATGGTAGAAGTCCC 0.378 15 46 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86959196 86959196 + Missense_Mutation SNP T G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:86959196T>G uc001dlt.2 + 10 1723 c.1594T>G c.(1594-1596)TGG>GGG p.W532G CLCA1_uc001dls.1_Missense_Mutation_p.W471G NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 532 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AATCCTTCTCTGGGATCCCAG 0.507 21 48 --- --- --- --- PASS BARHL2 343472 broad.mit.edu 37 1 91180241 91180241 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:91180241C>A uc001dns.2 - 2 740 c.698G>T c.(697-699)CGA>CTA p.R233L NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 233 Homeobox. nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CCTTGCTTTTCGAGGCTTCTT 0.557 39 122 --- --- --- --- PASS CCDC76 54482 broad.mit.edu 37 1 100598729 100598729 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:100598729C>A uc001dsv.2 + 1 24 c.5C>A c.(4-6)GCG>GAG p.A2E SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.A2E NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 2 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) AGAATTATGGCGACCTCCGCG 0.557 4 32 --- --- --- --- PASS SORT1 6272 broad.mit.edu 37 1 109910038 109910038 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:109910038T>A uc001dxm.1 - 3 481 c.432A>T c.(430-432)CTA>CTT p.L144L SORT1_uc010ovi.1_Silent_p.L8L|SORT1_uc009wfb.2_Silent_p.L8L NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 144 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) ACCTTCGATATAGCTTGGACT 0.383 30 100 --- --- --- --- PASS ATXN7L2 127002 broad.mit.edu 37 1 110028702 110028702 + Nonsense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:110028702A>T uc001dxr.2 + 2 166 c.151A>T c.(151-153)AAA>TAA p.K51* ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 51 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GGAGAGTAGCAAAAACACGAA 0.537 20 40 --- --- --- --- PASS ADAM30 11085 broad.mit.edu 37 1 120437651 120437651 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:120437651C>G uc001eij.2 - 1 1463 c.1309G>C c.(1309-1311)GCC>CCC p.A437P NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 437 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.A437G(1) ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CTACAGTTGGCACCTGGTTGC 0.453 30 79 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144874717 144874717 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:144874717G>C uc001elw.3 - 30 5182 c.4891C>G c.(4891-4893)CAC>GAC p.H1631D NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.H1587D|PDE4DIP_uc001elv.3_Missense_Mutation_p.H638D NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1631 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTCATAGTGTGTGTACTCG 0.522 T PDGFRB MPD 38 216 --- --- --- --- PASS CGN 57530 broad.mit.edu 37 1 151501956 151501956 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:151501956G>T uc009wmw.2 + 11 2171 c.2027G>T c.(2026-2028)GGT>GTT p.G676V NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 670 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGATCGAGGTCGGGAGCTG 0.627 6 31 --- --- --- --- PASS MEF2D 4209 broad.mit.edu 37 1 156450738 156450738 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:156450738C>A uc001fpc.2 - 4 674 c.284G>T c.(283-285)GGC>GTC p.G95V MEF2D_uc001fpb.2_Missense_Mutation_p.G95V|MEF2D_uc001fpd.2_Missense_Mutation_p.G95V|MEF2D_uc001fpe.1_Missense_Mutation_p.G95V|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 95 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTGTCGCAGCCGTTGAAGCC 0.667 OREG0013874 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 43 --- --- --- --- PASS APOA1BP 128240 broad.mit.edu 37 1 156563309 156563309 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:156563309G>C uc001fph.2 + 5 665 c.626G>C c.(625-627)GGA>GCA p.G209A APOA1BP_uc001fpg.2_Missense_Mutation_p.G209A|APOA1BP_uc001fpi.2_Silent_p.G190G|APOA1BP_uc001fpj.2_Missense_Mutation_p.G126A|APOA1BP_uc001fpk.2_Missense_Mutation_p.G106A|APOA1BP_uc010php.1_Missense_Mutation_p.G106A NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 209 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCCTGAAGGGACTCACTGTG 0.567 14 51 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157667113 157667113 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:157667113C>G uc001frb.2 - 6 953 c.661G>C c.(661-663)GAT>CAT p.D221H FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D221H|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.D221H NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 221 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) AGCTGGACATCTGGCCTCTGT 0.582 25 59 --- --- --- --- PASS VANGL2 57216 broad.mit.edu 37 1 160395042 160395042 + Missense_Mutation SNP A C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:160395042A>C uc001fwb.1 + 9 1739 c.1440A>C c.(1438-1440)TTA>TTC p.L480F VANGL2_uc001fwc.1_Missense_Mutation_p.L480F NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 480 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTTCCTCTTAAAACGCCAGG 0.527 20 39 --- --- --- --- PASS FCGR2B 2213 broad.mit.edu 37 1 161641367 161641367 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:161641367G>T uc001gaz.1 + 3 411 c.319G>T c.(319-321)GAC>TAC p.D107Y FCGR2B_uc009wum.1_Missense_Mutation_p.D107Y|FCGR2B_uc001gay.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gba.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gbb.1_Missense_Mutation_p.D107Y|FCGR2B_uc009wun.1_Missense_Mutation_p.D100Y NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 107 Ig-like C2-type 1.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAACAACAATGACAGCGGGGA 0.587 T ? ALL 10 33 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167852846 167852846 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:167852846C>G uc001ger.2 - 9 1147 c.849G>C c.(847-849)CAG>CAC p.Q283H ADCY10_uc009wvk.2_Missense_Mutation_p.Q191H|ADCY10_uc010plj.1_Missense_Mutation_p.Q130H|ADCY10_uc009wvl.2_Missense_Mutation_p.Q282H|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 283 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 ATAAATAGCCCTGAAGCTGTT 0.507 14 41 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176661376 176661376 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:176661376C>T uc001gkz.2 + 6 3710 c.2546C>T c.(2545-2547)CCA>CTA p.P849L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 849 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATCCCCATTCCACCTATGGTC 0.517 47 94 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197071710 197071710 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:197071710C>G uc001gtu.2 - 18 6928 c.6671G>C c.(6670-6672)TGG>TCG p.W2224S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.W72S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2224 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTCATTGCCCAGTATCTTTG 0.328 15 53 --- --- --- --- PASS CD55 1604 broad.mit.edu 37 1 207510715 207510715 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:207510715C>A uc001hfq.3 + 8 1315 c.1021C>A c.(1021-1023)CAT>AAT p.H341N CD55_uc001hfp.3_Missense_Mutation_p.H341N|CD55_uc001hfr.3_Missense_Mutation_p.H341N|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.H277N|CD55_uc009xce.2_Missense_Mutation_p.H341N|CD55_uc009xcg.2_Missense_Mutation_p.H83N NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 341 Ser/Thr-rich. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) CAAGCATTTTCATGAAACAAC 0.423 20 56 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207644261 207644261 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:207644261G>T uc001hfw.2 + 7 1496 c.1402G>T c.(1402-1404)GTG>TTG p.V468L CR2_uc001hfv.2_Missense_Mutation_p.V468L|CR2_uc009xch.2_Missense_Mutation_p.V468L|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 468 Sushi 7.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CCAATGCAAAGGTGCCAGGCC 0.443 10 23 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214571303 214571303 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:214571303C>G uc001hkk.1 - 8 982 c.711G>C c.(709-711)ATG>ATC p.M237I PTPN14_uc010pty.1_Missense_Mutation_p.M138I NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 237 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CGAAAATCCCCATAAAGAAAA 0.289 8 44 --- --- --- --- PASS BPNT1 10380 broad.mit.edu 37 1 220232316 220232316 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:220232316T>C uc001hma.2 - 9 969 c.797A>G c.(796-798)CAT>CGT p.H266R BPNT1_uc010pug.1_Missense_Mutation_p.H211R|BPNT1_uc010puh.1_Missense_Mutation_p.H230R|BPNT1_uc001hmb.3_Missense_Mutation_p.H281R NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 266 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) AACATTCCCATGGATATCGGT 0.398 21 50 --- --- --- --- PASS SLC35F3 148641 broad.mit.edu 37 1 234041399 234041399 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:234041399G>C uc001hvy.1 + 2 323 c.178G>C c.(178-180)GTG>CTG p.V60L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 Error:Variant_position_missing_in_Q8IY50_after_alignment transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTCGCGCTCCGTGGAGGATCT 0.642 18 43 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875985 247875985 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:247875985G>T uc001idj.1 - 1 73 c.73C>A c.(73-75)CTC>ATC p.L25I NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGAGAGAGAGCTGAAGAGTT 0.463 16 245 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978670 247978670 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:247978670T>C uc001idm.1 - 1 362 c.362A>G c.(361-363)TAT>TGT p.Y121C NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATAGCAGTATAGCGGTCAAA 0.493 37 111 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248128902 248128902 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:248128902C>A uc010pzd.1 + 1 269 c.269C>A c.(268-270)TCC>TAC p.S90Y OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 90 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGTACATCTCCACCACAGTG 0.473 30 79 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512845 248512845 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:248512845T>C uc010pzl.1 + 1 769 c.769T>C c.(769-771)TAC>CAC p.Y257H NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 257 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTCTTCTGTGTACCTCAGGCC 0.498 24 70 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512948 248512948 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:248512948G>A uc010pzl.1 + 1 872 c.872G>A c.(871-873)AGA>AAA p.R291K NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TACAGTCTTAGAAATAAGCAA 0.413 33 89 --- --- --- --- PASS OR2T27 403239 broad.mit.edu 37 1 248813460 248813460 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:248813460G>A uc010pzo.1 - 1 726 c.726C>T c.(724-726)TCC>TCT p.S242S NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 242 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCATGTGTGAGGAGCAGGTGG 0.522 6 9 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845065 248845065 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr1:248845065G>A uc001ieu.1 - 1 541 c.541C>T c.(541-543)CAT>TAT p.H181Y NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCAACACATGAGGGATGTCA 0.502 16 41 --- --- --- --- PASS RNASEH1 246243 broad.mit.edu 37 2 3595592 3595592 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:3595592C>T uc002qxt.2 - 7 793 c.703G>A c.(703-705)GGG>AGG p.G235R RNASEH1_uc002qxs.2_Missense_Mutation_p.G118R NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 235 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) ACCTCTTTCCCTGCACTTGTC 0.448 40 126 --- --- --- --- PASS CMPK2 129607 broad.mit.edu 37 2 7001358 7001358 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:7001358C>A uc002qyo.2 - 3 1058 c.949G>T c.(949-951)GAA>TAA p.E317* CMPK2_uc010yis.1_Nonsense_Mutation_p.E317*|CMPK2_uc010ewv.2_Nonsense_Mutation_p.E317* NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 317 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTAGCTATTTCGGAGGCCACA 0.373 13 51 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21247880 21247880 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:21247880G>A uc002red.2 - 16 2489 c.2361C>T c.(2359-2361)GCC>GCT p.A787A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 787 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATGGAGACTGGCAAAACCAA 0.552 22 61 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37241161 37241161 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:37241161T>A uc002rpp.1 - 27 4203 c.4107A>T c.(4105-4107)GTA>GTT p.V1369V HEATR5B_uc010ezy.1_5'UTR|HEATR5B_uc002rpq.3_5'UTR NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1369 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ATGTACTACATACCTAGACAA 0.333 30 52 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37265146 37265146 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:37265146G>A uc002rpp.1 - 21 3164 c.3068C>T c.(3067-3069)ACA>ATA p.T1023I NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1023 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GGAACGAATTGTAGAAGTTGT 0.363 14 42 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43514126 43514126 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:43514126A>G uc002rsw.3 - 35 5437 c.5085T>C c.(5083-5085)CCT>CCC p.P1695P THADA_uc010far.2_Silent_p.P890P|THADA_uc002rsx.3_Silent_p.P1695P|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1695 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TAGACTCTGTAGGAAGATGGT 0.493 31 52 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873855 48873855 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:48873855C>T uc010yol.1 + 5 2670 c.2623C>T c.(2623-2625)CTT>TTT p.L875F STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.L922F|GTF2A1L_uc002rws.1_Missense_Mutation_p.L218F|GTF2A1L_uc010yom.1_Missense_Mutation_p.L184F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.L218F NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 875 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAGTGATATACTTGTATCTCC 0.413 22 69 --- --- --- --- PASS SMEK2 57223 broad.mit.edu 37 2 55786013 55786013 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:55786013A>G uc002rzc.2 - 16 2727 c.2352T>C c.(2350-2352)AAT>AAC p.N784N SMEK2_uc002rzb.2_Silent_p.N699N|SMEK2_uc002rzd.2_Silent_p.N752N|SMEK2_uc002ryz.2_Silent_p.N211N|SMEK2_uc002rza.2_Silent_p.N568N NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 784 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGTTTGTTCCATTAGCAGCAC 0.438 9 186 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60679756 60679756 + Missense_Mutation SNP T G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:60679756T>G uc010ypj.1 - 4 2554 c.2326A>C c.(2326-2328)ATG>CTG p.M776L BCL11A_uc002sab.2_Missense_Mutation_p.D759A|BCL11A_uc002sac.2_Missense_Mutation_p.M226L|BCL11A_uc010ypi.1_Missense_Mutation_p.D428A NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 Error:Variant_position_missing_in_Q9H165_after_alignment negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTGCCACACATCTTGAGCTCT 0.537 T IGH@ B-CLL 8 148 --- --- --- --- PASS B3GNT2 10678 broad.mit.edu 37 2 62449632 62449632 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:62449632C>T uc002sbs.2 + 2 515 c.277C>T c.(277-279)CTG>TTG p.L93L NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 93 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) TATAAGCCATCTGAACTACTG 0.532 160 214 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79312409 79312409 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:79312409C>A uc002sny.2 - 6 546 c.434G>T c.(433-435)GGA>GTA p.G145V NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 145 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TTTCTTGAATCCTATGGTACA 0.398 24 21 --- --- --- --- PASS ITPRIPL1 150771 broad.mit.edu 37 2 96992653 96992653 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:96992653C>T uc002svx.2 + 3 619 c.284C>T c.(283-285)CCG>CTG p.P95L ITPRIPL1_uc010yuk.1_Missense_Mutation_p.P87L|ITPRIPL1_uc002svy.2_Missense_Mutation_p.P103L|ITPRIPL1_uc010yul.1_Missense_Mutation_p.P87L NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 95 Extracellular (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 ATGGGGTGGCCGTTCCAGGCC 0.572 16 32 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98844703 98844703 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:98844703G>A uc002syo.2 + 15 2322 c.2058G>A c.(2056-2058)CAG>CAA p.Q686Q VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.Q205Q|VWA3B_uc002sym.2_Silent_p.Q686Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.Q343Q|VWA3B_uc002syp.1_Silent_p.Q78Q|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Silent_p.Q3Q NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 686 ovary(3)|large_intestine(2)|skin(1) 6 AAATGGAACAGGGTCACAGTG 0.398 19 51 --- --- --- --- PASS PDCL3 79031 broad.mit.edu 37 2 101185427 101185427 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:101185427G>T uc002tao.2 + 3 280 c.168G>T c.(166-168)CTG>CTT p.L56L NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 56 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 TGGAAGAGCTGGAGGATCATG 0.338 20 53 --- --- --- --- PASS PDCL3 79031 broad.mit.edu 37 2 101185428 101185428 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:101185428G>T uc002tao.2 + 3 281 c.169G>T c.(169-171)GAG>TAG p.E57* NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 57 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 GGAAGAGCTGGAGGATCATGA 0.338 19 53 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128346007 128346007 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:128346007C>A uc002top.2 + 15 1784 c.1731C>A c.(1729-1731)ATC>ATA p.I577I NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 577 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCACAGATATCCTCACCCTGG 0.557 11 21 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141250260 141250260 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:141250260C>A uc002tvj.1 - 57 10009 c.9037G>T c.(9037-9039)GAA>TAA p.E3013* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3013 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGGTTCTTCATCTAAACAC 0.333 TSP Lung(27;0.18) 16 47 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149226852 149226852 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:149226852G>A uc002twm.3 + 9 2328 c.1340G>A c.(1339-1341)GGG>GAG p.G447E MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G447E|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 447 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACATGATGGGGACTGGAATT 0.507 16 30 --- --- --- --- PASS TANK 10010 broad.mit.edu 37 2 162036186 162036186 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:162036186A>G uc002ubr.1 + 2 171 c.13A>G c.(13-15)ATT>GTT p.I5V TANK_uc002ubq.1_Missense_Mutation_p.I5V|TANK_uc002ubs.2_Missense_Mutation_p.I5V NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 5 cytosol metal ion binding|protein binding ovary(1) 1 GGATAAAAACATTGGCGAGCA 0.393 14 48 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179425815 179425815 + Silent SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179425815A>T uc010zfg.1 - 275 77564 c.77340T>A c.(77338-77340)GTT>GTA p.V25780V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V19475V|TTN_uc010zfi.1_Silent_p.V19408V|TTN_uc010zfj.1_Silent_p.V19283V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26707 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCATCTTTAACTATAATAG 0.423 39 104 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179437674 179437674 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179437674A>G uc010zfg.1 - 275 65705 c.65481T>C c.(65479-65481)TAT>TAC p.Y21827Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y15522Y|TTN_uc010zfi.1_Silent_p.Y15455Y|TTN_uc010zfj.1_Silent_p.Y15330Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22754 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCGGATCTTATATTCCTGAT 0.493 11 22 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179497021 179497021 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179497021G>T uc010zfg.1 - 185 36120 c.35896C>A c.(35896-35898)CAG>AAG p.Q11966K TTN_uc010zfh.1_Missense_Mutation_p.Q5661K|TTN_uc010zfi.1_Missense_Mutation_p.Q5594K|TTN_uc010zfj.1_Missense_Mutation_p.Q5469K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12893 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTAGGCGCTGGTCATTCTTG 0.438 5 13 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179497022 179497022 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179497022G>T uc010zfg.1 - 185 36119 c.35895C>A c.(35893-35895)GAC>GAA p.D11965E TTN_uc010zfh.1_Missense_Mutation_p.D5660E|TTN_uc010zfi.1_Missense_Mutation_p.D5593E|TTN_uc010zfj.1_Missense_Mutation_p.D5468E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12892 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGGCGCTGGTCATTCTTGA 0.433 5 14 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179556764 179556764 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179556764C>A uc010zfg.1 - 118 28233 c.28009G>T c.(28009-28011)GAA>TAA p.E9337* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E5998*|TTN_uc010fre.1_Nonsense_Mutation_p.E448* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10264 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGCAGGTTCCTTCTTAGGC 0.453 15 27 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179588731 179588731 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:179588731G>T uc010zfg.1 - 70 17747 c.17523C>A c.(17521-17523)GTC>GTA p.V5841V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V2502V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6768 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGCTCCACTGACAATCTTGG 0.433 22 46 --- --- --- --- PASS MSTN 2660 broad.mit.edu 37 2 190927155 190927155 + Missense_Mutation SNP A C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:190927155A>C uc002urp.2 - 1 301 c.168T>G c.(166-168)ATT>ATG p.I56M NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 56 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TTTGTATCTTAATGGCTTCTA 0.388 17 45 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196825422 196825422 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:196825422G>A uc002utj.3 - 18 2554 c.2453C>T c.(2452-2454)CCA>CTA p.P818L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 818 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAATGCATATGGAGAATCATG 0.393 25 91 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197521505 197521505 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:197521505A>T uc002utp.1 + 3 460 c.325A>T c.(325-327)AGC>TGC p.S109C CCDC150_uc002uto.1_Missense_Mutation_p.S109C|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 109 Potential. 0 CCGTCTTGAAAGCCTCATGCA 0.373 23 64 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211541783 211541783 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:211541783A>G uc002vee.3 + 37 4459 c.4327A>G c.(4327-4329)ACT>GCT p.T1443A CPS1_uc010fur.2_Missense_Mutation_p.T1449A|CPS1_uc010fus.2_Missense_Mutation_p.T992A NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1443 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAACAACAACACTAAATTTGT 0.348 22 92 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241656788 241656788 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr2:241656788C>T uc002vzy.2 - 47 5212 c.5066G>A c.(5065-5067)CGG>CAG p.R1689Q KIF1A_uc010fzk.2_Missense_Mutation_p.R1790Q|KIF1A_uc002vzw.2_Missense_Mutation_p.R350Q|KIF1A_uc002vzx.2_Missense_Mutation_p.R416Q NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1689 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTTCAGACCCGCATCTGGGC 0.662 10 17 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4683776 4683776 + Splice_Site SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:4683776G>T uc003bqa.2 + 7 715 c.367_splice c.e7-1 p.L123_splice ITPR1_uc010hbz.2_Splice_Site_p.L123_splice|ITPR1_uc010hca.1_Splice_Site_p.L123_splice|ITPR1_uc011asu.1_Splice_Site_p.L123_splice|ITPR1_uc010hcb.1_Splice_Site_p.L123_splice NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGGGTTTTTAGCTCCTGCATT 0.408 25 27 --- --- --- --- PASS SLC6A6 6533 broad.mit.edu 37 3 14489188 14489188 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:14489188A>G uc010heg.2 + 12 754 c.463A>G c.(463-465)AAG>GAG p.K155E SLC6A6_uc003byp.2_Missense_Mutation_p.K155E|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.K155E|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 155 Extracellular (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 GTCCTTCCAGAAGGAGCTGCC 0.542 56 141 --- --- --- --- PASS C3orf19 51244 broad.mit.edu 37 3 14695956 14695956 + Silent SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:14695956C>G uc003byw.2 + 2 157 c.66C>G c.(64-66)CTC>CTG p.L22L C3orf19_uc010hei.1_Silent_p.L22L NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 22 0 AGGCTGAACTCTTCCGAAAGC 0.299 4 22 --- --- --- --- PASS AZI2 64343 broad.mit.edu 37 3 28373873 28373873 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:28373873G>C uc003ceb.2 - 6 1166 c.634C>G c.(634-636)CTA>GTA p.L212V AZI2_uc003cec.2_Missense_Mutation_p.L100V|AZI2_uc003ced.2_Missense_Mutation_p.L212V|AZI2_uc003cee.3_Missense_Mutation_p.L212V|AZI2_uc003ceg.2_Missense_Mutation_p.L212V|AZI2_uc011axd.1_Missense_Mutation_p.L212V|AZI2_uc003cef.2_Missense_Mutation_p.L212V NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 212 Interaction with TBK1. mitochondrion|plasma membrane ovary(2) 2 GAAATGCTTAGTTTTTGGAGA 0.313 25 27 --- --- --- --- PASS TGFBR2 7048 broad.mit.edu 37 3 30713401 30713401 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:30713401G>A uc003ceo.2 + 4 1108 c.726G>A c.(724-726)CTG>CTA p.L242L TGFBR2_uc003cen.2_Silent_p.L267L NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 242 Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CAGAGCTGCTGCCCATTGAGC 0.537 29 19 --- --- --- --- PASS SUSD5 26032 broad.mit.edu 37 3 33195275 33195275 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:33195275T>C uc003cfo.1 - 5 1267 c.849A>G c.(847-849)TCA>TCG p.S283S NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 283 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 GTGATCCTGGTGAATCTGCGG 0.537 26 19 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35730842 35730842 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:35730842C>A uc003cgb.2 + 7 714 c.450C>A c.(448-450)CAC>CAA p.H150Q ARPP21_uc003cga.2_Missense_Mutation_p.H150Q|ARPP21_uc011axy.1_Missense_Mutation_p.H150Q|ARPP21_uc003cgf.2_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 150 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TAGACTTACACGAGTTTCTGA 0.353 31 36 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35770811 35770811 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:35770811C>T uc003cgb.2 + 15 1506 c.1242C>T c.(1240-1242)AGC>AGT p.S414S ARPP21_uc003cga.2_Silent_p.S360S|ARPP21_uc011axy.1_Silent_p.S380S|ARPP21_uc003cgf.2_Silent_p.S215S|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 414 Ser-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGTCTTCCAGCAGTGCAGGCT 0.527 14 26 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66444471 66444471 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:66444471G>T uc003dmx.2 - 12 1475 c.1461C>A c.(1459-1461)TTC>TTA p.F487L LRIG1_uc011bfu.1_Missense_Mutation_p.F107L|LRIG1_uc003dmw.2_Missense_Mutation_p.F153L|LRIG1_uc010hnz.2_Missense_Mutation_p.F203L|LRIG1_uc010hoa.2_Missense_Mutation_p.F511L NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 487 Extracellular (Potential).|LRRCT. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TACCGCACACGAAACTCTCTG 0.493 3 20 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433401 73433401 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:73433401C>A uc003dpl.1 - 10 2412 c.2316G>T c.(2314-2316)GAG>GAT p.E772D PDZRN3_uc011bgh.1_Missense_Mutation_p.E429D|PDZRN3_uc010hoe.1_Missense_Mutation_p.E470D|PDZRN3_uc011bgf.1_Missense_Mutation_p.E489D|PDZRN3_uc011bgg.1_Missense_Mutation_p.E492D NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 772 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGGGGGAGATCTCCAGGGTGA 0.652 4 13 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74413749 74413749 + Splice_Site SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:74413749T>A uc003dpm.1 - 9 1164 c.1084_splice c.e9-1 p.E362_splice NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGTTCTCTCCTAGATGATAAT 0.328 10 20 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113850162 113850162 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:113850162T>C uc003ebd.2 - 7 1232 c.809A>G c.(808-810)CAA>CGA p.Q270R DRD3_uc010hqn.1_Missense_Mutation_p.Q270R|DRD3_uc003ebb.1_Missense_Mutation_p.Q270R|DRD3_uc003ebc.1_Missense_Mutation_p.Q270R NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 270 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TCCTCTTTCTTGGAAGCCTGG 0.532 22 54 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121416536 121416536 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:121416536C>G uc003eei.3 - 13 2945 c.2819G>C c.(2818-2820)AGA>ACA p.R940T GOLGB1_uc010hrc.2_Missense_Mutation_p.R945T|GOLGB1_uc003eej.3_Missense_Mutation_p.R906T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R826T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R904T NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 940 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTCCTCAGCTCTGGATAATAA 0.358 14 109 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 122003472 122003472 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:122003472C>G uc003eev.3 + 7 3043 c.2671C>G c.(2671-2673)CGC>GGC p.R891G CASR_uc003eew.3_Missense_Mutation_p.R901G NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 891 Cytoplasmic (Potential).|Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CACGCTGCGCCGCAGCAACGT 0.627 15 20 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125831645 125831645 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:125831645C>G uc003eim.1 - 19 2351 c.2161G>C c.(2161-2163)GAT>CAT p.D721H ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D620H|ALDH1L1_uc003ein.1_Missense_Mutation_p.D256H NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 721 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) ACGAACTCATCATGAATGGAG 0.562 18 106 --- --- --- --- PASS DBR1 51163 broad.mit.edu 37 3 137881387 137881387 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:137881387C>A uc003erv.2 - 8 1115 c.979G>T c.(979-981)GTA>TTA p.V327L DBR1_uc003eru.2_Missense_Mutation_p.V276L|DBR1_uc003ert.2_Missense_Mutation_p.V95L NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 327 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTTTCCAATACTTCTTTCATA 0.333 15 94 --- --- --- --- PASS PLSCR5 389158 broad.mit.edu 37 3 146309615 146309615 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:146309615C>A uc003ewb.2 - 5 1511 c.507G>T c.(505-507)TGG>TGT p.W169C PLSCR5_uc010hvb.2_Missense_Mutation_p.W157C|PLSCR5_uc010hvc.2_Missense_Mutation_p.W169C NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 169 0 GAAAGGGGTCCCACTTCTGCG 0.378 5 44 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150874031 150874031 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:150874031G>T uc003eyp.2 + 5 678 c.640G>T c.(640-642)GAT>TAT p.D214Y MED12L_uc011bnz.1_Missense_Mutation_p.D214Y|MED12L_uc003eym.1_Missense_Mutation_p.D214Y|MED12L_uc003eyn.2_Missense_Mutation_p.D214Y|MED12L_uc003eyo.2_Missense_Mutation_p.D214Y NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 214 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGCACGGGCGATGGCCCTGT 0.473 10 67 --- --- --- --- PASS SHOX2 6474 broad.mit.edu 37 3 157820671 157820671 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:157820671G>A uc003fbr.2 - 2 490 c.351C>T c.(349-351)TCC>TCT p.S117S SHOX2_uc003fbs.2_Silent_p.S141S|SHOX2_uc010hvw.2_Silent_p.S117S NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 117 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TCAGCTCCGGGGACACTGGAG 0.483 13 82 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183454574 183454574 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:183454574A>T uc003fly.2 + 8 1076 c.881A>T c.(880-882)AAG>ATG p.K294M NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 294 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTTCATTTTAAGGACAGCCAG 0.403 22 152 --- --- --- --- PASS TPRG1 285386 broad.mit.edu 37 3 188956624 188956624 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:188956624G>T uc003frv.1 + 9 1632 c.405G>T c.(403-405)CTG>CTT p.L135L TPRG1_uc003frw.1_Silent_p.L135L NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 135 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) GTGTGCAGCTGCAGCGGATTC 0.473 34 105 --- --- --- --- PASS CLDN16 10686 broad.mit.edu 37 3 190126254 190126254 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:190126254G>C uc003fsi.2 + 4 812 c.744G>C c.(742-744)TTG>TTC p.L248F CLDN16_uc010hze.2_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 248 Helical; (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTTGCTTTTTGGCTGGAGCTG 0.388 13 92 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193130151 193130151 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:193130151T>A uc003ftd.2 - 27 3132 c.3024A>T c.(3022-3024)ACA>ACT p.T1008T ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 1008 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CATTTTGTACTGTGCAGGCAC 0.393 59 179 --- --- --- --- PASS CPN2 1370 broad.mit.edu 37 3 194062580 194062580 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:194062580G>A uc003fts.2 - 2 942 c.852C>T c.(850-852)CTC>CTT p.L284L NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 284 LRR 8. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGTGGGCAAAGAGGCCGGCAG 0.612 8 62 --- --- --- --- PASS IQCG 84223 broad.mit.edu 37 3 197670685 197670685 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr3:197670685C>A uc003fyo.2 - 3 392 c.246G>T c.(244-246)ATG>ATT p.M82I IQCG_uc003fyp.2_Missense_Mutation_p.M82I|IQCG_uc003fyq.3_Missense_Mutation_p.M82I NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 82 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) ACTGAACGGGCATGATGTAGT 0.468 22 151 --- --- --- --- PASS ZNF595 152687 broad.mit.edu 37 4 86295 86295 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:86295G>C uc003fzv.1 + 6 1057 c.901G>C c.(901-903)GAA>CAA p.E301Q ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E69Q|ZNF595_uc011but.1_Missense_Mutation_p.E69Q NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 301 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AAGCCTGAATGAACATAAGAA 0.378 16 39 --- --- --- --- PASS CTBP1 1487 broad.mit.edu 37 4 1206732 1206732 + Missense_Mutation SNP C A A rs7687296 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:1206732C>A uc003gcv.1 - 8 1273 c.1108G>T c.(1108-1110)GTG>TTG p.V370L uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.V351L|CTBP1_uc003gcu.1_Missense_Mutation_p.V359L|CTBP1_uc003gcw.2_Missense_Mutation_p.V44L NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 370 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) TCAGGGTGCACGACGGCGGGG 0.657 4 17 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20618590 20618590 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:20618590C>A uc003gpr.1 + 35 4109 c.3905C>A c.(3904-3906)ACC>AAC p.T1302N SLIT2_uc003gps.1_Missense_Mutation_p.T1294N NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1302 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CAGAACGGAACCAGCTTCCAC 0.587 11 48 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40123482 40123482 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:40123482C>T uc003guy.3 + 9 4089 c.3751C>T c.(3751-3753)CCA>TCA p.P1251S N4BP2_uc010ifq.2_Missense_Mutation_p.P1171S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1171S NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1251 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GCAGTCCTTTCCAGGTATTCT 0.373 25 96 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47514816 47514816 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:47514816G>C uc003gxk.1 + 2 423 c.259G>C c.(259-261)GTG>CTG p.V87L ATP10D_uc003gxj.3_Missense_Mutation_p.V87L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 87 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TCTGAATTTTGTGCCAAGAAA 0.333 11 37 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47682236 47682236 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:47682236C>G uc003gxm.2 - 8 1147 c.1054G>C c.(1054-1056)GAC>CAC p.D352H CORIN_uc011bzf.1_Missense_Mutation_p.D213H|CORIN_uc011bzg.1_Missense_Mutation_p.D285H|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 352 Extracellular (Potential).|LDL-receptor class A 3. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CAGCGCCCGTCCCCGCAGCGA 0.542 10 30 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66231739 66231739 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:66231739T>C uc003hcy.2 - 11 2154 c.1961A>G c.(1960-1962)CAT>CGT p.H654R EPHA5_uc003hcx.2_Missense_Mutation_p.H586R|EPHA5_uc003hcz.2_Missense_Mutation_p.H632R|EPHA5_uc011cah.1_Missense_Mutation_p.H655R|EPHA5_uc011cai.1_Missense_Mutation_p.H633R|EPHA5_uc003hda.2_Missense_Mutation_p.H655R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 654 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CTCATAGGTATGTGGATCAAT 0.373 TSP Lung(17;0.13) 25 34 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69816854 69816854 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:69816854C>G uc003hef.2 - 1 656 c.625G>C c.(625-627)GTA>CTA p.V209L UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 209 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GAATTTTTTACTCTTTCCAGA 0.403 13 30 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71509397 71509397 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:71509397G>A uc011caw.1 + 9 2535 c.2254G>A c.(2254-2256)GCT>ACT p.A752T NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 752 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TAATAATGCCGCTGGACCAGA 0.453 21 51 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113462282 113462282 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:113462282G>A uc003iau.2 - 25 5952 c.5741C>T c.(5740-5742)ACC>ATC p.T1914I C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.T372I NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 736 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AAAACACAGGGTTGGTAGCCA 0.378 5 11 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114195750 114195750 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:114195750T>C uc003ibe.3 + 15 1728 c.1628T>C c.(1627-1629)GTG>GCG p.V543A ANK2_uc003ibd.3_Missense_Mutation_p.V522A|ANK2_uc003ibf.3_Missense_Mutation_p.V543A|ANK2_uc003ibc.2_Missense_Mutation_p.V519A|ANK2_uc011cgb.1_Missense_Mutation_p.V558A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 543 ANK 16. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGGGCCAGGTGGATGTGGCA 0.512 14 43 --- --- --- --- PASS IL21 59067 broad.mit.edu 37 4 123542049 123542049 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:123542049G>T uc003ies.2 - 1 163 c.118C>A c.(118-120)CGT>AGT p.R40S uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.R33S NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 33 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 ATAAGTTGACGCATTCTAATC 0.368 11 54 --- --- --- --- PASS NPY2R 4887 broad.mit.edu 37 4 156135368 156135368 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:156135368G>T uc003ioq.2 + 2 772 c.277G>T c.(277-279)GCT>TCT p.A93S NPY2R_uc003ior.2_Missense_Mutation_p.A93S NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 93 Helical; Name=2; (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) TGCCAATCTGGCTGTGGCAGA 0.473 4 24 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158224786 158224786 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:158224786C>T uc003ipm.3 + 3 771 c.312C>T c.(310-312)TGC>TGT p.C104C GRIA2_uc011cit.1_Silent_p.C57C|GRIA2_uc003ipl.3_Silent_p.C104C|GRIA2_uc003ipk.3_Silent_p.C57C|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 104 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CATCATTTTGCGGAACACTCC 0.433 25 95 --- --- --- --- PASS C4orf46 201725 broad.mit.edu 37 4 159590809 159590809 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:159590809C>G uc003iqa.2 - 2 547 c.298G>C c.(298-300)GAC>CAC p.D100H C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank NM_001008393 NP_001008394 Q504U0 CD046_HUMAN hypothetical protein LOC201725 100 skin(1) 1 TTCAAGAGGTCCCGCCACGTT 0.378 13 38 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160251607 160251607 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:160251607A>G uc003iqg.3 + 7 1251 c.941A>G c.(940-942)AAA>AGA p.K314R NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 314 N-terminal Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GAAGTGGGCAAAAAGTTATTG 0.363 14 59 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162697178 162697178 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:162697178A>G uc003iqh.2 - 5 894 c.458T>C c.(457-459)TTA>TCA p.L153S FSTL5_uc003iqi.2_Missense_Mutation_p.L152S|FSTL5_uc010iqv.2_Missense_Mutation_p.L152S NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 153 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGTAAATCTAATAGCATATT 0.284 9 21 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162697198 162697198 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:162697198G>T uc003iqh.2 - 5 874 c.438C>A c.(436-438)AGC>AGA p.S146R FSTL5_uc003iqi.2_Missense_Mutation_p.S145R|FSTL5_uc010iqv.2_Missense_Mutation_p.S145R NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 146 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTTTCATCTTGCTGTATTCAG 0.279 6 19 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175897228 175897228 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:175897228T>A uc003iuc.2 + 5 1222 c.552T>A c.(550-552)ACT>ACA p.T184T ADAM29_uc003iud.2_Silent_p.T184T|ADAM29_uc010irr.2_Silent_p.T184T|ADAM29_uc011cki.1_Silent_p.T184T NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 184 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATAATTCCACTCAGAAGCAAA 0.358 14 28 --- --- --- --- PASS SDHA 6389 broad.mit.edu 37 5 225549 225549 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:225549G>T uc003jao.3 + 4 443 c.328G>T c.(328-330)GCT>TCT p.A110S SDHA_uc003jan.2_Missense_Mutation_p.A110S|SDHA_uc011clv.1_Missense_Mutation_p.A110S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.A110S|SDHA_uc003jaq.3_5'Flank NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 110 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AATCAATGCTGCTCTGGGGAA 0.567 Familial_Paragangliomas 21 77 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 482830 482830 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:482830G>T uc003jbe.2 - 7 1301 c.1189C>A c.(1189-1191)CGC>AGC p.R397S SLC9A3_uc011clx.1_Missense_Mutation_p.R397S NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 397 Extracellular (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGCACCATGCGGTAGCGGTTC 0.692 9 12 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6620312 6620312 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:6620312T>C uc003jdu.2 - 7 787 c.722A>G c.(721-723)CAT>CGT p.H241R NSUN2_uc003jdt.2_Missense_Mutation_p.H5R|NSUN2_uc011cmk.1_Missense_Mutation_p.H206R|NSUN2_uc003jdv.2_Missense_Mutation_p.H5R NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 241 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 GGAGGCATCATGGTTGACCAC 0.498 12 79 --- --- --- --- PASS PAPD7 11044 broad.mit.edu 37 5 6755026 6755026 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:6755026C>G uc003jdx.1 + 13 1726 c.1597C>G c.(1597-1599)CGG>GGG p.R533G PAPD7_uc011cmn.1_Missense_Mutation_p.R523G|PAPD7_uc010itl.1_Missense_Mutation_p.R353G NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 533 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 CACACACACACGGGACAGTCT 0.662 10 19 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21760770 21760770 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:21760770G>T uc010iuc.2 - 10 1988 c.1530C>A c.(1528-1530)GTC>GTA p.V510V CDH12_uc011cno.1_Silent_p.V470V|CDH12_uc003jgk.2_Silent_p.V510V|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 510 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CTGCAGCACTGACTATCTGAA 0.403 HNSCC(59;0.17) 28 111 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975451 21975451 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:21975451G>T uc010iuc.2 - 3 733 c.275C>A c.(274-276)ACC>AAC p.T92N CDH12_uc011cno.1_Missense_Mutation_p.T92N|CDH12_uc003jgk.2_Missense_Mutation_p.T92N NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 92 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCCTGAGAGGGTGTATTTCAC 0.368 HNSCC(59;0.17) 19 80 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078648 22078648 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:22078648C>A uc010iuc.2 - 2 596 c.138G>T c.(136-138)CGG>CGT p.R46R CDH12_uc011cno.1_Silent_p.R46R|CDH12_uc003jgk.2_Silent_p.R46R NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 46 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGAAATGTGACCGTTGTCCTG 0.473 HNSCC(59;0.17) 38 154 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33936910 33936910 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:33936910C>G uc003jic.1 + 1 422 c.65C>G c.(64-66)GCA>GGA p.A22G NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 22 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GACAAGCTAGCAGAACTCTTC 0.607 11 56 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35965865 35965865 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:35965865C>T uc003jjv.1 - 4 623 c.466G>A c.(466-468)GAG>AAG p.E156K UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.E156K|UGT3A1_uc011cor.1_Missense_Mutation_p.E122K|UGT3A1_uc003jjy.1_Missense_Mutation_p.E102K NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 156 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAAGCTTCTCAGCAATCAGG 0.398 20 62 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36035849 36035849 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:36035849C>T uc003jjz.1 - 7 1616 c.1523G>A c.(1522-1524)GGC>GAC p.G508D UGT3A2_uc011cos.1_Missense_Mutation_p.G474D|UGT3A2_uc011cot.1_Missense_Mutation_p.G206D NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 508 Cytoplasmic (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACAGCCATGCCCAGCAGCTT 0.582 5 34 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852718 40852718 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:40852718G>T uc003jmg.2 + 3 1359 c.1284G>T c.(1282-1284)GTG>GTT p.V428V NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 428 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 AAGACATTGTGAAGAAGCAGT 0.453 19 66 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40972654 40972654 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:40972654A>G uc003jmh.2 + 15 2146 c.2032A>G c.(2032-2034)AAG>GAG p.K678E C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 678 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CTCCAGCCTTAAGTGGAGTCC 0.488 25 174 --- --- --- --- PASS TAF9 6880 broad.mit.edu 37 5 68661332 68661332 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:68661332C>A uc003jwc.1 - 2 565 c.233G>T c.(232-234)CGC>CTC p.R78L TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R78L|TAF9_uc003jwe.1_Missense_Mutation_p.R78L|TAF9_uc003jwf.1_Missense_Mutation_p.R78L NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 78 histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) CTGATCAGCGCGGCACTGGAT 0.408 20 51 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70806636 70806636 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:70806636G>T uc003kbp.1 + 17 3980 c.3717G>T c.(3715-3717)AAG>AAT p.K1239N BDP1_uc003kbn.1_Missense_Mutation_p.K1239N|BDP1_uc003kbo.2_Missense_Mutation_p.K1239N NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1239 Potential.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAAGGGAAAAGGTGCTAGCAG 0.403 7 137 --- --- --- --- PASS AQPEP 206338 broad.mit.edu 37 5 115336143 115336143 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:115336143C>A uc003kro.2 + 8 1693 c.1529C>A c.(1528-1530)GCC>GAC p.A510D AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 510 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 GCGTCTATGGCCCGGATGCTT 0.378 18 43 --- --- --- --- PASS AQPEP 206338 broad.mit.edu 37 5 115336144 115336144 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:115336144C>A uc003kro.2 + 8 1694 c.1530C>A c.(1528-1530)GCC>GCA p.A510A AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 510 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CGTCTATGGCCCGGATGCTTT 0.378 18 42 --- --- --- --- PASS CDKL3 51265 broad.mit.edu 37 5 133638306 133638306 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:133638306A>G uc003kzf.3 - 12 1813 c.1694T>C c.(1693-1695)GTG>GCG p.V565A CDKL3_uc011cxm.1_Missense_Mutation_p.V372A|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Missense_Mutation_p.V172A|CDKL3_uc011cxo.1_Missense_Mutation_p.V270A|CDKL3_uc011cxp.1_Missense_Mutation_p.V270A|CDKL3_uc011cxq.1_Missense_Mutation_p.V372A NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 isoform 1 565 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTTGATCCACGTTAAGTAA 0.299 3 4 --- --- --- --- PASS CDC25C 995 broad.mit.edu 37 5 137621721 137621721 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:137621721G>A uc003lcp.1 - 13 1533 c.1262C>T c.(1261-1263)CCA>CTA p.P421L CDC25C_uc003lcq.1_Missense_Mutation_p.P348L|CDC25C_uc003lcr.1_Missense_Mutation_p.P421L|CDC25C_uc011cyp.1_Missense_Mutation_p.P438L|CDC25C_uc003lcs.1_Missense_Mutation_p.P499L NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 421 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CATATATTCTGGAAAGAAGTC 0.502 18 41 --- --- --- --- PASS ETF1 2107 broad.mit.edu 37 5 137878583 137878583 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:137878583C>T uc003ldc.3 - 2 190 c.25G>A c.(25-27)GAC>AAC p.D9N ETF1_uc011cyv.1_5'Flank|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_5'UTR NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 9 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACGTTCCTGTCGGCAGCACTG 0.667 11 10 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140176677 140176677 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:140176677C>T uc003lhd.2 + 1 2234 c.2128C>T c.(2128-2130)CTG>TTG p.L710L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L710L|PCDHA2_uc011czy.1_Silent_p.L710L NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 710 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTATCCAGCCTGTTGGTGCT 0.682 23 48 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182453 140182453 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:140182453C>T uc003lhf.2 + 1 1671 c.1671C>T c.(1669-1671)GAC>GAT p.D557D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.D557D NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 557 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.687 18 41 --- --- --- --- PASS DIAPH1 1729 broad.mit.edu 37 5 140966626 140966626 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:140966626G>C uc003llb.3 - 3 424 c.283C>G c.(283-285)CTC>GTC p.L95V DIAPH1_uc003llc.3_Missense_Mutation_p.L86V NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 95 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCAAAGAGAACCAGCACT 0.428 25 45 --- --- --- --- PASS ABLIM3 22885 broad.mit.edu 37 5 148577924 148577924 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:148577924C>A uc003lpy.2 + 4 545 c.294C>A c.(292-294)GGC>GGA p.G98G ABLIM3_uc003lpz.1_Silent_p.G98G|ABLIM3_uc003lqa.1_Missense_Mutation_p.A80D|ABLIM3_uc003lqb.2_Silent_p.G98G|ABLIM3_uc003lqc.1_Silent_p.G98G|ABLIM3_uc003lqd.1_Silent_p.G98G|ABLIM3_uc003lqf.2_Silent_p.G98G|ABLIM3_uc003lqe.1_Silent_p.G98G NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 98 LIM zinc-binding 2. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCCTGGGCCGCACTTACC 0.632 9 14 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161128573 161128573 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr5:161128573G>T uc003lyu.2 + 9 1494 c.1156G>T c.(1156-1158)GAG>TAG p.E386* GABRA6_uc003lyv.2_Nonsense_Mutation_p.E157* NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 386 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCATCTTCCGAGGCCAATAA 0.453 TCGA Ovarian(5;0.080) 27 30 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55620414 55620414 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:55620414A>G uc003pcq.2 - 7 1994 c.1282T>C c.(1282-1284)TCT>CCT p.S428P BMP5_uc011dxf.1_Missense_Mutation_p.S391P NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 428 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TACAGAACAGAGATGGCATTT 0.348 27 30 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56335002 56335002 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:56335002T>A uc003pdf.2 - 90 16071 c.16043A>T c.(16042-16044)TAT>TTT p.Y5348F DST_uc003pcz.3_Missense_Mutation_p.Y5170F|DST_uc011dxj.1_Missense_Mutation_p.Y5199F|DST_uc011dxk.1_Missense_Mutation_p.Y5210F|DST_uc003pcy.3_Missense_Mutation_p.Y4844F|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7256 EF-hand 2.|2 (Potential). cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TACAAATTCATAGTAGTCAAT 0.403 17 14 --- --- --- --- PASS RWDD2A 112611 broad.mit.edu 37 6 83905545 83905545 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:83905545T>C uc003pjx.3 + 3 704 c.433T>C c.(433-435)TCT>CCT p.S145P PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.S70P NM_033411 NP_219479 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 145 0 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) ATATGAACCATCTACACAAGC 0.428 41 66 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88173891 88173891 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:88173891G>T uc003plv.2 + 13 1884 c.1792G>T c.(1792-1794)GCT>TCT p.A598S SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.A410S|C6orf165_uc010kbv.1_RNA NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 598 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GATTTACTTGGCTGGTCTTCG 0.468 16 40 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96651800 96651800 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:96651800C>T uc003pop.3 + 3 1110 c.769C>T c.(769-771)CTA>TTA p.L257L NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 257 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CACGGAAAAGCTATACAATGC 0.343 8 26 --- --- --- --- PASS PREP 5550 broad.mit.edu 37 6 105825364 105825364 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:105825364C>G uc003prc.2 - 3 354 c.151G>C c.(151-153)GTG>CTG p.V51L NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 51 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) AGAAATGGCACAGTAATCTTA 0.353 17 38 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106973217 106973217 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:106973217T>A uc003prh.2 + 4 3631 c.3144T>A c.(3142-3144)TCT>TCA p.S1048S NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1048 Beta/gamma crystallin 'Greek key' 1. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ATTGCAGTTCTTGGAGCCTCT 0.398 34 67 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891957 132891957 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:132891957C>A uc011eck.1 + 1 497 c.497C>A c.(496-498)GCT>GAT p.A166D NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 166 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TACAGCGGTGCTGTGTTCTAC 0.502 67 117 --- --- --- --- PASS HBS1L 10767 broad.mit.edu 37 6 135300358 135300358 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:135300358T>C uc003qez.2 - 14 1853 c.1646A>G c.(1645-1647)CAT>CGT p.H549R HBS1L_uc003qey.2_Missense_Mutation_p.H385R|HBS1L_uc011ecy.1_Missense_Mutation_p.H273R|HBS1L_uc011ecz.1_Missense_Mutation_p.H385R|HBS1L_uc011eda.1_Missense_Mutation_p.H507R NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 549 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AAGACTAACATGATCGCCTGC 0.428 7 37 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148865626 148865626 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:148865626C>T uc003qme.1 + 18 3495 c.3020C>T c.(3019-3021)CCC>CTC p.P1007L SASH1_uc011eeb.1_Missense_Mutation_p.P768L|SASH1_uc003qmf.1_Missense_Mutation_p.P417L NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1007 Pro-rich. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCCATGGGCCCCAGTGGGGCC 0.632 16 20 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152527420 152527420 + Silent SNP C T T rs140577642 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr6:152527420C>T uc010kiw.2 - 126 23504 c.22902G>A c.(22900-22902)TCG>TCA p.S7634S SYNE1_uc010kiv.2_Silent_p.S2158S|SYNE1_uc003qos.3_Silent_p.S2158S|SYNE1_uc003qot.3_Silent_p.S7563S|SYNE1_uc003qou.3_Silent_p.S7634S|SYNE1_uc003qor.3_Silent_p.S534S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7634 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CACTGTCCGCCGAGAGAAGGA 0.507 HNSCC(10;0.0054) 10 25 --- --- --- --- PASS GLCCI1 113263 broad.mit.edu 37 7 8124623 8124623 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:8124623G>C uc003srk.2 + 7 1833 c.1274G>C c.(1273-1275)CGA>CCA p.R425P NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 425 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GGATGTGAGCGAGTGAAGGTC 0.458 8 29 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21757518 21757518 + Nonsense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:21757518C>G uc003svc.2 + 44 7161 c.7130C>G c.(7129-7131)TCA>TGA p.S2377* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2377 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACCATCACTTCAATTCCTGAG 0.408 Kartagener_syndrome 29 63 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23775399 23775399 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:23775399G>T uc003sws.3 + 7 793 c.726G>T c.(724-726)TTG>TTT p.L242F STK31_uc003swt.3_Missense_Mutation_p.L219F|STK31_uc011jze.1_Missense_Mutation_p.L242F|STK31_uc010kuq.2_Missense_Mutation_p.L219F NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 242 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CCATTCCTTTGTGGGGGCATA 0.453 12 41 --- --- --- --- PASS AQP1 358 broad.mit.edu 37 7 30951557 30951557 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:30951557G>T uc003tbv.1 + 1 90 c.33G>T c.(31-33)TGG>TGT p.W11C AQP1_uc011kac.1_Intron NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 11 Helical; Name=Helix 1. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) AGCTCTTCTGGAGGGCAGTGG 0.612 4 16 --- --- --- --- PASS MRPS24 64951 broad.mit.edu 37 7 43906368 43906368 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:43906368T>C uc003tit.1 - 4 485 c.434A>G c.(433-435)TAC>TGC p.Y145C NM_032014 NP_114403 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 precursor 145 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 TTTGTAAAAGTAGGACAGCAA 0.493 15 41 --- --- --- --- PASS DBNL 28988 broad.mit.edu 37 7 44099661 44099661 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:44099661T>C uc003tjp.3 + 12 1160 c.1062T>C c.(1060-1062)GGT>GGC p.G354G DBNL_uc003tjo.3_Silent_p.G355G|DBNL_uc003tjr.3_Silent_p.G227G|DBNL_uc003tjq.3_Silent_p.G363G|DBNL_uc011kbm.1_Silent_p.G330G|DBNL_uc011kbn.1_Silent_p.G251G|DBNL_uc011kbo.1_Silent_p.G255G|DBNL_uc011kbp.1_Silent_p.G306G|DBNL_uc011kbq.1_Silent_p.G279G|DBNL_uc011kbr.1_Silent_p.G303G|DBNL_uc011kbs.1_Silent_p.G259G NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 354 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 AGCAGCAAGGTGCTGGCTCTG 0.607 4 15 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48556400 48556400 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:48556400C>A uc003toq.2 + 52 13745 c.13720C>A c.(13720-13722)CTA>ATA p.L4574I ABCA13_uc010kys.1_Missense_Mutation_p.L1649I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L304I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4574 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTATGTCTCACTAAACTTCAT 0.428 30 106 --- --- --- --- PASS CLIP2 7461 broad.mit.edu 37 7 73803459 73803459 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:73803459G>T uc003uam.2 + 13 2917 c.2590G>T c.(2590-2592)GAG>TAG p.E864* CLIP2_uc003uan.2_Nonsense_Mutation_p.E829* NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 864 Potential. microtubule associated complex skin(3) 3 TAAGTCAGGCGAGAAGAAGGT 0.627 7 36 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81624184 81624184 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:81624184C>T uc003uhr.1 - 20 1990 c.1734G>A c.(1732-1734)GAG>GAA p.E578E NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 597 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CAATTCTTACCTCATCTTGAG 0.264 8 31 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94035032 94035032 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:94035032C>A uc003ung.1 + 11 1005 c.534C>A c.(532-534)GGC>GGA p.G178G COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 178 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCTTCAAAGGCATTAGGGTGA 0.363 HNSCC(75;0.22) 25 92 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111462506 111462506 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:111462506G>A uc003vfx.2 - 27 3111 c.2842C>T c.(2842-2844)CTG>TTG p.L948L DOCK4_uc003vfw.2_Silent_p.L389L|DOCK4_uc003vfy.2_Silent_p.L984L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 948 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATCTGCAGCAGGAAATCCTTG 0.388 9 31 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122114483 122114483 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:122114483G>A uc010lkp.2 - 12 2113 c.1950C>T c.(1948-1950)CTC>CTT p.L650L CADPS2_uc011knx.1_Silent_p.L21L|CADPS2_uc003vkg.3_Silent_p.L347L|CADPS2_uc010lkq.2_Silent_p.L647L NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 650 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TCTGCCTCTGGAGTATTCTAA 0.383 15 61 --- --- --- --- PASS KLHDC10 23008 broad.mit.edu 37 7 129764369 129764369 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:129764369A>T uc003vpj.1 + 6 993 c.858A>T c.(856-858)TTA>TTT p.L286F KLHDC10_uc003vpk.1_Missense_Mutation_p.L257F|KLHDC10_uc010lmb.1_Missense_Mutation_p.L183F NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 286 Kelch 4. 0 CATATTCCTTAAACAAGGTAT 0.368 13 37 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149482226 149482226 + Missense_Mutation SNP G C C rs149954255 by1000genomes TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:149482226G>C uc010lpk.2 + 21 2900 c.2900G>C c.(2899-2901)CGC>CCC p.R967P SSPO_uc010lpl.1_Missense_Mutation_p.A303P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 967 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGACGAGCGCTGTGTGCCT 0.637 11 29 --- --- --- --- PASS SLC4A2 6522 broad.mit.edu 37 7 150773153 150773153 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:150773153C>T uc003wit.3 + 22 3781 c.3525C>T c.(3523-3525)GCC>GCT p.A1175A SLC4A2_uc011kve.1_Silent_p.A1166A|SLC4A2_uc003wiu.3_Silent_p.A1161A|SLC4A2_uc003wiv.3_Silent_p.A369A|uc011kvf.1_Missense_Mutation_p.G98S NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1175 Membrane (anion exchange).|Helical; (Potential). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCCTGGCCCTGCTCTGGG 0.657 20 39 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151962221 151962221 + Nonsense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr7:151962221A>T uc003wla.2 - 8 1305 c.1086T>A c.(1084-1086)TGT>TGA p.C362* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 362 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGTGCTGACCACAAGTAGTAC 0.448 N medulloblastoma 18 294 --- --- --- --- PASS INTS10 55174 broad.mit.edu 37 8 19687965 19687965 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:19687965G>T uc003wzj.2 + 10 1320 c.1189G>T c.(1189-1191)GTA>TTA p.V397L NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 397 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TCGTCACATTGTAGTCAATAA 0.398 20 26 --- --- --- --- PASS INTS10 55174 broad.mit.edu 37 8 19687967 19687967 + Silent SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:19687967A>T uc003wzj.2 + 10 1322 c.1191A>T c.(1189-1191)GTA>GTT p.V397V NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 397 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GTCACATTGTAGTCAATAAAG 0.403 19 27 --- --- --- --- PASS STAR 6770 broad.mit.edu 37 8 38008297 38008297 + Missense_Mutation SNP A C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:38008297A>C uc003xkv.1 - 1 304 c.40T>G c.(40-42)TAC>GAC p.Y14D STAR_uc010lwc.1_Missense_Mutation_p.Y14D NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 14 C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) ATGTGTCTGTAGGAGCTCCCA 0.418 17 395 --- --- --- --- PASS DDHD2 23259 broad.mit.edu 37 8 38105316 38105316 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:38105316A>G uc003xlb.2 + 10 1588 c.1211A>G c.(1210-1212)GAT>GGT p.D404G DDHD2_uc003xlc.2_Missense_Mutation_p.D404G|DDHD2_uc011lbl.1_Missense_Mutation_p.D216G|DDHD2_uc003xld.2_Missense_Mutation_p.D23G NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 404 SAM. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GAATTCTTTGATATCTTTGAG 0.303 43 272 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38205604 38205604 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:38205604C>T uc003xli.2 - 2 604 c.86G>A c.(85-87)CGT>CAT p.R29H WHSC1L1_uc011lbm.1_Missense_Mutation_p.R29H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R29H|WHSC1L1_uc003xlj.2_Missense_Mutation_p.R29H NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 29 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) ATCCTCCTGACGGATGTTGGC 0.468 T NUP98 AML 56 340 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39694659 39694659 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:39694659G>A uc003xnj.2 - 2 203 c.128C>T c.(127-129)TCG>TTG p.S43L ADAM2_uc003xnk.2_Missense_Mutation_p.S43L|ADAM2_uc011lck.1_Missense_Mutation_p.S43L|ADAM2_uc003xnl.2_Missense_Mutation_p.S43L NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 43 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CATTACCTGCGATTCAATTCC 0.303 11 195 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48743256 48743256 + Silent SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:48743256G>C uc003xqi.2 - 62 8364 c.8307C>G c.(8305-8307)GTC>GTG p.V2769V PRKDC_uc003xqj.2_Silent_p.V2769V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2769 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTACAGAACGACCTGGGCAT 0.483 NHEJ 13 76 --- --- --- --- PASS LYN 4067 broad.mit.edu 37 8 56866519 56866519 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:56866519G>C uc003xsk.3 + 8 1048 c.766G>C c.(766-768)GGG>CGG p.G256R LYN_uc003xsl.3_Missense_Mutation_p.G235R NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 256 Protein kinase.|ATP (By similarity). erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GCTTGGCGCTGGGCAGTTTGG 0.527 17 67 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62212665 62212665 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:62212665C>A uc003xuh.2 + 2 603 c.279C>A c.(277-279)CTC>CTA p.L93L CLVS1_uc003xug.2_Silent_p.L93L|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.L93L NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 93 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CCTTTAGACTCCTGGCTCAGT 0.488 25 32 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616888 77616888 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:77616888C>A uc003yav.2 + 2 952 c.565C>A c.(565-567)CCA>ACA p.P189T ZFHX4_uc003yat.1_Missense_Mutation_p.P189T|ZFHX4_uc003yau.1_Missense_Mutation_p.P189T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P189T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 189 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCGTTCTACCCACAGATCAT 0.483 HNSCC(33;0.089) 7 40 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89130996 89130996 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:89130996G>T uc003yeb.3 - 5 1086 c.804C>A c.(802-804)TAC>TAA p.Y268* MMP16_uc003yec.2_Nonsense_Mutation_p.Y268* NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 268 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CCATGTACTGGTAAAATGGAG 0.418 38 49 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110489571 110489571 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:110489571C>A uc003yne.2 + 53 9139 c.9035C>A c.(9034-9036)CCT>CAT p.P3012H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3012 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTGCTTTCCTGTACATCCG 0.408 HNSCC(38;0.096) 20 60 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113304900 113304900 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:113304900C>G uc003ynu.2 - 55 8813 c.8654G>C c.(8653-8655)AGA>ACA p.R2885T CSMD3_uc003yns.2_Missense_Mutation_p.R2087T|CSMD3_uc003ynt.2_Missense_Mutation_p.R2845T|CSMD3_uc011lhx.1_Missense_Mutation_p.R2716T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2885 Extracellular (Potential).|Sushi 19. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCACTTGTTCTTCCATAAAT 0.418 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 58 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121259859 121259859 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:121259859C>A uc003yox.2 + 21 2752 c.2487C>A c.(2485-2487)TCC>TCA p.S829S COL14A1_uc003yoy.2_Silent_p.S507S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 829 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGTACCATCCTCGGGGCCCC 0.468 17 29 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139790639 139790639 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:139790639C>G uc003yvd.2 - 15 2162 c.1715G>C c.(1714-1716)GGA>GCA p.G572A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 572 Pro-rich.|Gly-rich.|Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCAGGTGGTCCTTGGGGCCC 0.552 HNSCC(7;0.00092) 13 21 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139790640 139790640 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:139790640C>A uc003yvd.2 - 15 2161 c.1714G>T c.(1714-1716)GGA>TGA p.G572* NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 572 Pro-rich.|Gly-rich.|Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGTGGTCCTTGGGGCCCC 0.552 HNSCC(7;0.00092) 13 21 --- --- --- --- PASS GPR20 2843 broad.mit.edu 37 8 142367017 142367017 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:142367017C>T uc003ywf.2 - 2 1096 c.1007G>A c.(1006-1008)GGC>GAC p.G336D NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 336 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GTGATGACGGCCTGAGCCCTT 0.682 7 29 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143961141 143961141 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:143961141C>T uc003yxi.2 - 1 96 c.89G>A c.(88-90)CGG>CAG p.R30Q CYP11B1_uc003yxj.2_Missense_Mutation_p.R30Q|CYP11B1_uc010mey.2_Missense_Mutation_p.R30Q NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 30 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CCTGGGGACCCGGGCGGCTCT 0.647 Familial_Hyperaldosteronism_type_I 37 47 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145692606 145692606 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:145692606G>T uc003zcz.2 + 4 416 c.351G>T c.(349-351)CTG>CTT p.L117L CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 117 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCCCCTCACTGTTGACAGTGA 0.662 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 43 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 464218 464218 + Nonstop_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:464218A>T uc003zgf.2 + 48 6411 c.6299A>T c.(6298-6300)TAA>TTA p.*2100L DOCK8_uc010mgu.2_Nonstop_Mutation_p.*1402L|DOCK8_uc010mgv.2_Nonstop_Mutation_p.*2000L|DOCK8_uc003zgk.2_Nonstop_Mutation_p.*1558L NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2100 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAGGGCAGCTAAGAAAAGCCA 0.488 21 39 --- --- --- --- PASS C9orf46 55848 broad.mit.edu 37 9 5431953 5431953 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:5431953T>C uc003zjc.2 - 3 229 c.25A>G c.(25-27)ATG>GTG p.M9V C9orf46_uc003zjd.2_Missense_Mutation_p.M9V NM_018465 NP_060935 Q9HBL7 CI046_HUMAN hypothetical protein LOC55848 9 integral to membrane ovary(1) 1 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125) CTTTCATTCATAGATTTTGAA 0.294 4 7 --- --- --- --- PASS CNTLN 54875 broad.mit.edu 37 9 17409420 17409420 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:17409420A>G uc003zmz.2 + 16 2768 c.2742A>G c.(2740-2742)CAA>CAG p.Q914Q CNTLN_uc003zmy.2_Silent_p.Q915Q|CNTLN_uc010mio.2_Silent_p.Q594Q NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 915 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GCCAAACACAAGGAAAAGAAA 0.333 42 87 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35377549 35377549 + Missense_Mutation SNP G T T rs142442316 by1000genomes TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:35377549G>T uc003zwq.2 + 15 1965 c.1673G>T c.(1672-1674)CGA>CTA p.R558L UNC13B_uc003zwr.2_Missense_Mutation_p.R558L NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 558 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATGAAGATCCGAGAGCGAAAT 0.502 30 34 --- --- --- --- PASS SEMA4D 10507 broad.mit.edu 37 9 92011737 92011737 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:92011737T>C uc004aqo.1 - 8 901 c.329A>G c.(328-330)AAC>AGC p.N110S SEMA4D_uc011ltm.1_Missense_Mutation_p.N110S|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.N108S NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 110 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CCGGATGTAGTTGAGGCACTC 0.582 4 7 --- --- --- --- PASS ZNF169 169841 broad.mit.edu 37 9 97062614 97062614 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:97062614G>T uc004aum.1 + 5 879 c.774G>T c.(772-774)GGG>GGT p.G258G NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 258 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) CACACACCGGGGAGAAGCCAT 0.567 8 23 --- --- --- --- PASS FKTN 2218 broad.mit.edu 37 9 108366570 108366570 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:108366570C>T uc004bcr.2 + 6 660 c.444C>T c.(442-444)GAC>GAT p.D148D FKTN_uc011lvx.1_Silent_p.D148D|FKTN_uc004bcs.2_Silent_p.D148D|FKTN_uc011lvy.1_Silent_p.D148D|FKTN_uc010mtm.2_Silent_p.D16D NM_001079802 NP_001073270 O75072 FKTN_HUMAN fukutin 148 Lumenal (Potential). muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(2)|ovary(1) 3 CCCGGCTAGACGGGATAGACT 0.473 23 28 --- --- --- --- PASS MED27 9442 broad.mit.edu 37 9 134955031 134955031 + Silent SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:134955031G>C uc004cbe.1 - 1 223 c.201C>G c.(199-201)CTC>CTG p.L67L MED27_uc004cbf.1_Silent_p.L67L|MED27_uc011mco.1_Silent_p.L67L|MED27_uc004cbg.3_Silent_p.L67L NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 67 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) GTACCTACTTGAGGTCCCGGT 0.642 11 31 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139412360 139412360 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:139412360A>T uc004chz.2 - 8 1285 c.1285T>A c.(1285-1287)TGC>AGC p.C429S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 429 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTGTTGATGCACTTGCCCGCA 0.662 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 23 9 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139413085 139413085 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:139413085G>A uc004chz.2 - 6 1057 c.1057C>T c.(1057-1059)CGT>TGT p.R353C NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 353 Extracellular (Potential).|EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.R353H(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGGCCACACGGTCATGGCAG 0.652 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 6 9 --- --- --- --- PASS MIR126 406913 broad.mit.edu 37 9 139565062 139565062 + RNA SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr9:139565062A>T hsa-mir-126|MI0000471 + c.9A>T EGFL7_uc004cid.2_Intron|EGFL7_uc004cif.2_Intron|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Intron|EGFL7_uc004cie.2_Intron|EGFL7_uc004cih.2_Intron 0 TCCGCTGGCGACGGGACATTA 0.592 14 6 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 863800 863800 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:863800T>C uc001ifs.1 - 14 1601 c.1560A>G c.(1558-1560)CCA>CCG p.P520P NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 520 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 ACGGAGGCTTTGGTGGCGTTG 0.562 20 31 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 8051097 8051097 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:8051097G>A uc010qbd.1 + 5 2372 c.2372G>A c.(2371-2373)AGG>AAG p.R791K NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 791 Pro-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TCGCAGAACAGGCCGAAGAcc 0.299 4 7 --- --- --- --- PASS MCM10 55388 broad.mit.edu 37 10 13214719 13214719 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:13214719A>G uc001ima.2 + 5 650 c.549A>G c.(547-549)CTA>CTG p.L183L MCM10_uc001imb.2_Silent_p.L182L|MCM10_uc001imc.2_Silent_p.L182L NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 183 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TCCCTGCGCTACCAAGAACCA 0.458 12 29 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21250653 21250653 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:21250653G>C uc001iqk.2 - 4 659 c.305C>G c.(304-306)ACG>AGG p.T102R NM_213569 NP_998734 O76041 NEBL_HUMAN nebulette non-muscle isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 AGGAGTGTCCGTGACGATGCT 0.443 35 78 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33543123 33543123 + Splice_Site SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:33543123C>A uc001iwx.3 - 6 1338 c.815_splice c.e6-1 p.D272_splice NRP1_uc001iwv.3_Splice_Site_p.D272_splice|NRP1_uc009xlz.2_Splice_Site_p.D272_splice|NRP1_uc001iww.3_Splice_Site_p.D91_splice|NRP1_uc001iwy.3_Splice_Site_p.D272_splice|NRP1_uc001iwz.2_Splice_Site_p.D272_splice|NRP1_uc001ixa.2_Splice_Site_p.D272_splice|NRP1_uc001ixb.1_Splice_Site_p.D272_splice|NRP1_uc001ixc.1_Splice_Site_p.D272_splice NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CATTTGAAATCTGAAGGGAAA 0.398 13 24 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37505199 37505199 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:37505199G>C uc001iza.1 + 32 2891 c.2792G>C c.(2791-2793)GGA>GCA p.G931A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 987 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAACGTACAGGAAAAATGGAA 0.333 13 54 --- --- --- --- PASS ALOX5 240 broad.mit.edu 37 10 45878095 45878095 + Silent SNP C A A rs140946470 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:45878095C>A uc001jce.2 + 2 414 c.315C>A c.(313-315)ACC>ACA p.T105T ALOX5_uc009xmt.2_Silent_p.T105T|ALOX5_uc010qfg.1_Silent_p.T105T NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 105 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCTGGATCACCGGCGATGTCG 0.592 8 17 --- --- --- --- PASS LRRC18 474354 broad.mit.edu 37 10 50121473 50121473 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:50121473G>C uc001jhd.2 - 1 808 c.728C>G c.(727-729)CCC>CGC p.P243R WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.P243R NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 243 cytoplasm ovary(1)|pancreas(1) 2 CATGGAATTGGGTGAGATCAG 0.537 45 108 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50820151 50820151 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:50820151G>C uc001jhw.2 + 1 1805 c.1365G>C c.(1363-1365)ATG>ATC p.M455I CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 455 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCCTTGGCATGGGACTGGCCA 0.637 6 23 --- --- --- --- PASS A1CF 29974 broad.mit.edu 37 10 52573785 52573785 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:52573785C>A uc001jjj.2 - 10 1367 c.1179G>T c.(1177-1179)GTG>GTT p.V393V A1CF_uc010qhn.1_Silent_p.V393V|A1CF_uc001jji.2_Silent_p.V385V|A1CF_uc001jjh.2_Silent_p.V393V|A1CF_uc010qho.1_Silent_p.V401V|A1CF_uc009xov.2_Silent_p.V385V NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 393 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CCAGTCCTCTCACTCCCGCAG 0.463 8 30 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67680202 67680202 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:67680202C>A uc009xpn.1 - 18 2697 c.2574G>T c.(2572-2574)TTG>TTT p.L858F CTNNA3_uc001jmw.2_Missense_Mutation_p.L858F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 858 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CTCTTTTAATCAAGGGTTTTT 0.473 14 53 --- --- --- --- PASS RGR 5995 broad.mit.edu 37 10 86007505 86007505 + Splice_Site SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:86007505T>C uc001kdc.1 + 2 274 c.236_splice c.e2+2 p.R79_splice RGR_uc001kdb.1_Splice_Site_p.P62_splice|RGR_uc001kdd.1_Splice_Site_p.R79_splice|RGR_uc001kde.1_Splice_Site_p.R79_splice NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CCTTCTCCGGTACCAGCCCCC 0.637 9 31 --- --- --- --- PASS ZNF518A 9849 broad.mit.edu 37 10 97918053 97918053 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:97918053A>G uc001klp.2 + 6 2831 c.1974A>G c.(1972-1974)GCA>GCG p.A658A ZNF518A_uc001klo.1_Silent_p.A128A|ZNF518A_uc001klq.2_Silent_p.A658A|ZNF518A_uc001klr.2_Silent_p.A658A NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CAGGAACAGCAGTGTATGAAA 0.373 22 45 --- --- --- --- PASS LOXL4 84171 broad.mit.edu 37 10 100010855 100010855 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:100010855C>T uc001kpa.1 - 14 2318 c.2167G>A c.(2167-2169)GGG>AGG p.G723R NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 723 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) ACCCGGTGCCCATCATACTTG 0.522 6 14 --- --- --- --- PASS PDZD7 79955 broad.mit.edu 37 10 102783315 102783315 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:102783315G>T uc001kso.1 - 4 635 c.420C>A c.(418-420)AGC>AGA p.S140R PDZD7_uc001ksn.2_Missense_Mutation_p.S140R NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 140 PDZ 1. cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TGCTCTCCAGGCTCAGCCCAT 0.657 8 21 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108337279 108337279 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:108337279T>C uc001kym.2 - 26 3414 c.3406A>G c.(3406-3408)ACT>GCT p.T1136A SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1136 Cytoplasmic (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCAGGTTGAGTAGAAGGGGAG 0.493 23 42 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118354329 118354329 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:118354329G>A uc001lco.1 + 5 436 c.418G>A c.(418-420)GTG>ATG p.V140M PNLIPRP1_uc001lcp.2_Missense_Mutation_p.V140M|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 140 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) TGCCAACAACGTGCGAGTGGT 0.602 9 17 --- --- --- --- PASS RAB11FIP2 22841 broad.mit.edu 37 10 119805520 119805520 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:119805520G>C uc001ldj.1 - 1 595 c.155C>G c.(154-156)GCT>GGT p.A52G RAB11FIP2_uc009xyz.1_Missense_Mutation_p.A52G|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 52 C2.|Necessary for its cellular translocation to the plasma membrane. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) GGTTTTCTCAGCTACAGAGGT 0.448 16 35 --- --- --- --- PASS C10orf120 399814 broad.mit.edu 37 10 124457592 124457592 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:124457592T>A uc001lgn.2 - 3 697 c.665A>T c.(664-666)GAT>GTT p.D222V NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 222 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TTGGTTGGCATCATCACAATT 0.398 12 23 --- --- --- --- PASS DOCK1 1793 broad.mit.edu 37 10 129172398 129172398 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr10:129172398A>T uc001ljt.2 + 35 3596 c.3532A>T c.(3532-3534)ATG>TTG p.M1178L DOCK1_uc010qun.1_Missense_Mutation_p.M1199L|DOCK1_uc009yaq.2_Missense_Mutation_p.M173L NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1178 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TGTGCGCTTAATGGAAAGGCT 0.423 10 17 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967961 4967961 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:4967961T>C uc010qys.1 - 1 370 c.370A>G c.(370-372)AGA>GGA p.R124G NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTAGGAATCTATCAAATGAC 0.448 49 77 --- --- --- --- PASS TRIM22 10346 broad.mit.edu 37 11 5719761 5719761 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:5719761G>C uc001mbr.2 + 4 1013 c.736G>C c.(736-738)GTA>CTA p.V246L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.V214L|TRIM22_uc009yes.2_Missense_Mutation_p.V242L|TRIM22_uc010qzm.1_Missense_Mutation_p.V74L|TRIM22_uc009yeu.2_Missense_Mutation_p.V57L NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 246 Potential. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GGGATCGTCAGTAGAGATGCT 0.547 6 12 --- --- --- --- PASS OR52L1 338751 broad.mit.edu 37 11 6007601 6007601 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:6007601C>A uc001mcd.2 - 1 615 c.560G>T c.(559-561)TGC>TTC p.C187F NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGGCTTGGCAGAAGATAAG 0.493 31 48 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8947056 8947056 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:8947056C>G uc001mhb.3 - 5 1282 c.1158G>C c.(1156-1158)TGG>TGC p.W386C C11orf16_uc001mhc.3_Missense_Mutation_p.W386C NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 386 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TCCAATACCTCCACTCAGGCT 0.592 13 40 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17464298 17464298 + Silent SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:17464298G>C uc001mnc.2 - 10 1725 c.1599C>G c.(1597-1599)CTC>CTG p.L533L ABCC8_uc010rcy.1_Silent_p.L532L NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 533 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CAAAGGCCCTGAGGCTGGTCA 0.607 10 29 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22249067 22249067 + Silent SNP C A A rs149040903 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:22249067C>A uc001mqi.2 + 7 900 c.583C>A c.(583-585)CGG>AGG p.R195R ANO5_uc001mqj.2_Silent_p.R194R NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 195 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CAGCAGACATCGGCAGGAGCT 0.453 21 47 --- --- --- --- PASS BBOX1 8424 broad.mit.edu 37 11 27148880 27148880 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:27148880C>T uc001mre.1 + 9 1412 c.1044C>T c.(1042-1044)GGC>GGT p.G348G BBOX1_uc009yih.1_Silent_p.G348G|BBOX1_uc001mrg.1_Silent_p.G348G NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 348 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) TACTTCATGGCCGACGTAGCT 0.408 14 28 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587801 55587801 + Silent SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:55587801C>G uc010rin.1 + 1 696 c.696C>G c.(694-696)GTC>GTG p.V232V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TGCGTTCAGTCAGTGGGCGCC 0.493 27 67 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944513 55944513 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:55944513G>T uc010rjb.1 + 1 420 c.420G>T c.(418-420)AAG>AAT p.K140N NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CTGATAGAAAGTGTGTGGAGC 0.453 17 52 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000524 56000524 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:56000524A>G uc010rjc.1 - 1 138 c.138T>C c.(136-138)ACT>ACC p.T46T NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 46 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AGGTAACTTCAGTGACATTCT 0.363 16 45 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230145 56230145 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:56230145C>A uc010rjj.1 - 1 733 c.733G>T c.(733-735)GCT>TCT p.A245S NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATAGAAACAGCCGTCAAGTGG 0.532 7 20 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958617 57958617 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:57958617C>G uc010rka.1 + 1 655 c.655C>G c.(655-657)CTG>GTG p.L219V NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GGTATCCTACCTGTTTATCAT 0.522 11 47 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982498 57982498 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:57982498G>C uc010rkc.1 + 1 282 c.282G>C c.(280-282)ATG>ATC p.M94I NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) TCCCCAAAATGCTGGTGAATA 0.408 22 117 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982499 57982499 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:57982499C>T uc010rkc.1 + 1 283 c.283C>T c.(283-285)CTG>TTG p.L95L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) CCCCAAAATGCTGGTGAATAT 0.403 20 117 --- --- --- --- PASS OR5B21 219968 broad.mit.edu 37 11 58274962 58274962 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:58274962A>T uc010rki.1 - 1 617 c.617T>A c.(616-618)TTC>TAC p.F206Y NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGGAGGGTGAAAAAGACGTT 0.473 12 31 --- --- --- --- PASS DAGLA 747 broad.mit.edu 37 11 61490431 61490431 + Silent SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:61490431C>G uc001nsa.2 + 4 519 c.408C>G c.(406-408)CTC>CTG p.L136L NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 136 Extracellular (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) ATGTCACCCTCGGTACGTCTG 0.592 14 47 --- --- --- --- PASS FADS3 3995 broad.mit.edu 37 11 61645000 61645000 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:61645000C>A uc001nsm.2 - 7 1021 c.868G>T c.(868-870)GTG>TTG p.V290L FADS3_uc001nsn.2_Missense_Mutation_p.V166L NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 290 Lumenal (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 TGCATGCACACCAGCATGTAC 0.637 9 24 --- --- --- --- PASS PPP2R5B 5526 broad.mit.edu 37 11 64695280 64695280 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:64695280G>A uc001oby.2 + 4 988 c.403G>A c.(403-405)GTG>ATG p.V135M PPP2R5B_uc001obz.2_Missense_Mutation_p.V135M NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 135 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 TCAGATCTCAGTGAATATCTT 0.468 19 40 --- --- --- --- PASS C11orf2 738 broad.mit.edu 37 11 64878989 64878989 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:64878989C>T uc001ocr.1 + 10 2319 c.2279C>T c.(2278-2280)GCT>GTT p.A760V TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A636V NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 760 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GTGGCCTCTGCTGCCCTGCGC 0.637 13 20 --- --- --- --- PASS TMEM134 80194 broad.mit.edu 37 11 67234994 67234994 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:67234994G>C uc001olq.1 - 3 375 c.307C>G c.(307-309)CGC>GGC p.R103G TMEM134_uc001olp.1_Missense_Mutation_p.R94G|TMEM134_uc001olr.1_Missense_Mutation_p.R103G|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA|TMEM134_uc010rpt.1_Missense_Mutation_p.R94G|TMEM134_uc009yrx.2_Missense_Mutation_p.R103G|TMEM134_uc010rpu.1_Missense_Mutation_p.S97R|TMEM134_uc001olu.3_Missense_Mutation_p.S106R NM_025124 NP_079400 Q9H6X4 TM134_HUMAN transmembrane protein 134 isoform a 103 Cytoplasmic (Potential). integral to membrane 0 TTGTAGGAGCGCTGGGTGCTG 0.682 4 35 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73785376 73785376 + Nonsense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:73785376G>A uc001ouu.2 - 24 5100 c.4873C>T c.(4873-4875)CAG>TAG p.Q1625* C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1625 C2 2. Q -> R (in Ref. 1; BAC86334). centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGGCCCTCCTGCGTCAGGCGG 0.567 5 44 --- --- --- --- PASS CCDC89 220388 broad.mit.edu 37 11 85397009 85397009 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:85397009C>A uc001pau.1 - 1 312 c.165G>T c.(163-165)CTG>CTT p.L55L NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 55 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CCTCCTCTGACAGTCCCCGGA 0.547 13 40 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93826744 93826744 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:93826744C>A uc001pep.2 + 13 2529 c.2372C>A c.(2371-2373)ACG>AAG p.T791K uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 791 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGGGAATATACGGATGGAGAA 0.463 60 99 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93836182 93836182 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:93836182T>A uc001pep.2 + 15 2835 c.2678T>A c.(2677-2679)GTG>GAG p.V893E uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 893 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTAAACTTTGTGAAGGTAAGG 0.378 8 59 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99827644 99827644 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:99827644A>T uc001pga.2 + 8 1119 c.780A>T c.(778-780)CAA>CAT p.Q260H CNTN5_uc009ywv.1_Missense_Mutation_p.Q260H|CNTN5_uc001pfz.2_Missense_Mutation_p.Q260H|CNTN5_uc001pgb.2_Missense_Mutation_p.Q186H NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 260 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTAAAGTCCAAACATCAGATG 0.458 20 31 --- --- --- --- PASS ANGPTL5 253935 broad.mit.edu 37 11 101771162 101771162 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:101771162T>C uc001pgl.2 - 7 1256 c.660A>G c.(658-660)CTA>CTG p.L220L NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 220 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) AAAATTAACCTAGAAGATCTC 0.348 19 28 --- --- --- --- PASS ZC3H12C 85463 broad.mit.edu 37 11 110034020 110034020 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:110034020C>A uc009yxw.2 + 5 1222 c.1171C>A c.(1171-1173)CTT>ATT p.L391I ZC3H12C_uc010rwc.1_Missense_Mutation_p.L392I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.L392I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.L360I NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 391 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TGATGACCCTCTTGGCAGACA 0.393 4 35 --- --- --- --- PASS TMPRSS5 80975 broad.mit.edu 37 11 113570795 113570795 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:113570795C>A uc001poc.3 - 2 221 c.99G>T c.(97-99)CAG>CAT p.Q33H TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.Q23H|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron NM_030770 NP_110397 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 33 Cytoplasmic (Potential). proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1) 1 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) TACTGGGATGCTGCTGGTCTC 0.617 3 9 --- --- --- --- PASS CLDN25 644672 broad.mit.edu 37 11 113650742 113650742 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:113650742G>C uc009yyw.1 + 1 225 c.225G>C c.(223-225)CAG>CAC p.Q75H NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 75 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 CTCTGCCCCAGGAGCTCCAGG 0.562 47 112 --- --- --- --- PASS APOA4 337 broad.mit.edu 37 11 116692455 116692455 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:116692455C>T uc001pps.1 - 3 423 c.319G>A c.(319-321)GAG>AAG p.E107K NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ctcagctcctccagctccttc 0.025 4 10 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117308664 117308664 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:117308664C>T uc001prh.1 - 25 4561 c.4559G>A c.(4558-4560)AGC>AAC p.S1520N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1460 Fibronectin type-III 5.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGAGCCCACGCTGTTCTTGGC 0.637 9 25 --- --- --- --- PASS OR6X1 390260 broad.mit.edu 37 11 123624810 123624810 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr11:123624810G>T uc010rzy.1 - 1 417 c.417C>A c.(415-417)TGC>TGA p.C139* NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CCAGCTGCAGGCAGAGTTTGC 0.522 21 78 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 330173 330173 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:330173C>A uc001qic.1 - 15 1803 c.1750G>T c.(1750-1752)GCT>TCT p.A584S SLC6A13_uc009zdj.1_Missense_Mutation_p.A574S|SLC6A13_uc010sdl.1_Missense_Mutation_p.A492S NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 584 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GTGGCGGGAGCCGAGGGTCCT 0.657 8 11 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6061009 6061009 + Splice_Site SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:6061009C>A uc001qnn.1 - 50 8405 c.8155_splice c.e50+1 p.C2719_splice VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AACGCACTCACATGTGTCACA 0.448 12 28 --- --- --- --- PASS USP5 8078 broad.mit.edu 37 12 6964980 6964980 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:6964980C>T uc001qri.3 + 3 358 c.299C>T c.(298-300)GCT>GTT p.A100V USP5_uc001qrh.3_Missense_Mutation_p.A100V NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 100 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 ACGCGGCTGGCTATTGGTGAG 0.577 12 29 --- --- --- --- PASS C1R 715 broad.mit.edu 37 12 7187955 7187955 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:7187955G>A uc010sfy.1 - 10 2058 c.1999C>T c.(1999-2001)CGC>TGC p.R667C NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 667 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCCACCCAGCGATCAGTGTTC 0.567 10 41 --- --- --- --- PASS CLEC4C 170482 broad.mit.edu 37 12 7882298 7882298 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:7882298C>A uc001qtg.1 - 6 710 c.536G>T c.(535-537)CGT>CTT p.R179L CLEC4C_uc001qth.1_Missense_Mutation_p.R179L|CLEC4C_uc001qti.1_Missense_Mutation_p.R148L NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 179 Extracellular (Potential).|C-type lectin. innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TATCGCACAACGCTCATCAAG 0.418 17 39 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 14019093 14019093 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:14019093G>T uc001rbt.2 - 2 229 c.50C>A c.(49-51)GCC>GAC p.A17D NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 17 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCCAGGACGGCCAACACCAA 0.557 9 31 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19473549 19473549 + Silent SNP A G G rs146976787 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:19473549A>G uc001reb.2 + 13 1985 c.1899A>G c.(1897-1899)GTA>GTG p.V633V PLEKHA5_uc010sie.1_Silent_p.V736V|PLEKHA5_uc001rea.2_Silent_p.V691V|PLEKHA5_uc009zin.2_Silent_p.V391V|PLEKHA5_uc010sif.1_Silent_p.V564V|PLEKHA5_uc010sig.1_Silent_p.V552V|PLEKHA5_uc010sih.1_Silent_p.V525V|PLEKHA5_uc001rec.1_Silent_p.V379V|PLEKHA5_uc009zio.2_5'Flank NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 633 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CTGAAGAAGTAGATATTGATG 0.308 22 67 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20858991 20858991 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:20858991C>G uc001rej.3 + 5 735 c.380C>G c.(379-381)GCA>GGA p.A127G SLCO1C1_uc010sii.1_Missense_Mutation_p.A127G|SLCO1C1_uc010sij.1_Missense_Mutation_p.A127G|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.A127G|SLCO1C1_uc010sik.1_Missense_Mutation_p.A9G NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 127 Helical; Name=3; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) CTGCTCATTGCAATGCCTCAG 0.378 59 161 --- --- --- --- PASS LDHB 3945 broad.mit.edu 37 12 21790085 21790085 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:21790085T>C uc001rfc.2 - 6 775 c.757A>G c.(757-759)ATT>GTT p.I253V LDHB_uc001rfd.2_Missense_Mutation_p.I253V|LDHB_uc001rfe.2_Missense_Mutation_p.I253V NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 253 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) CTTAATCCAATAGCCCAGTTG 0.323 21 46 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 21998678 21998678 + Nonsense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:21998678G>T uc001rfi.1 - 24 2975 c.2955C>A c.(2953-2955)TAC>TAA p.Y985* ABCC9_uc001rfh.2_Nonsense_Mutation_p.Y985*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Y949* NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 985 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGATGTCAGGTAGCGCCAGC 0.443 14 41 --- --- --- --- PASS SLC38A1 81539 broad.mit.edu 37 12 46591839 46591839 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:46591839C>T uc001rpa.2 - 15 1385 c.1127G>A c.(1126-1128)CGT>CAT p.R376H SLC38A1_uc001rpb.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpc.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpd.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpe.2_Missense_Mutation_p.R376H|SLC38A1_uc009zkj.1_Missense_Mutation_p.R376H NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 376 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TAAAGATGAACGAACCTGCAA 0.373 16 33 --- --- --- --- PASS AQP6 363 broad.mit.edu 37 12 50367133 50367133 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:50367133C>T uc001rvr.1 + 1 514 c.177C>T c.(175-177)GCC>GCT p.A59A AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 59 Helical; (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 TACAGATTGCCATCACCTTCA 0.637 17 70 --- --- --- --- PASS POU6F1 5463 broad.mit.edu 37 12 51584140 51584140 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:51584140C>T uc001rxy.2 - 5 988 c.796G>A c.(796-798)GAA>AAA p.E266K POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 266 Homeobox. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 TTAGCAATTTCAGTGATCTCC 0.547 28 54 --- --- --- --- PASS KRT5 3852 broad.mit.edu 37 12 52914004 52914004 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:52914004G>A uc001san.2 - 1 240 c.77C>T c.(76-78)TCT>TTT p.S26F KRT5_uc009zmh.2_Missense_Mutation_p.S26F NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 26 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGGAGACAGACGGGGTGAT 0.662 12 21 --- --- --- --- PASS OR10A7 121364 broad.mit.edu 37 12 55614955 55614955 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:55614955C>A uc010spf.1 + 1 147 c.147C>A c.(145-147)ACC>ACA p.T49T NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TCACAGTTACCAGTGTGGATC 0.393 58 158 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56091005 56091005 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:56091005G>T uc001shh.2 - 11 1794 c.1574C>A c.(1573-1575)ACT>AAT p.T525N ITGA7_uc001shg.2_Missense_Mutation_p.T521N|ITGA7_uc010sps.1_Missense_Mutation_p.T428N|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.T408N NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 565 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CTCACCCACAGTAGGGCTATA 0.607 7 11 --- --- --- --- PASS DDIT3 1649 broad.mit.edu 37 12 57910715 57910715 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:57910715C>T uc001soi.2 - 4 567 c.387G>A c.(385-387)AGG>AGA p.R129R MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Silent_p.R152R|DDIT3_uc009zpt.2_Silent_p.R152R NM_004083 NP_004074 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 129 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding FUS/DDIT3(623)|EWSR1/DDIT3(43) soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1) 671 GTGCCACTTTCCTTTCATTCT 0.542 T FUS liposarcoma 26 92 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57966467 57966467 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:57966467G>T uc001sor.1 + 15 1882 c.1674G>T c.(1672-1674)CTG>CTT p.L558L KIF5A_uc010srr.1_Silent_p.L469L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 558 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TGAAGGATCTGAGCGAGTTCA 0.552 29 80 --- --- --- --- PASS OS9 10956 broad.mit.edu 37 12 58111934 58111934 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:58111934G>T uc001spj.2 + 11 1199 c.1140G>T c.(1138-1140)AAG>AAT p.K380N OS9_uc010srx.1_Missense_Mutation_p.K174N|OS9_uc001spk.2_Missense_Mutation_p.K380N|OS9_uc001spl.2_Missense_Mutation_p.K380N|OS9_uc001spm.2_Missense_Mutation_p.K380N|OS9_uc001spn.2_Missense_Mutation_p.K381N|OS9_uc010sry.1_Missense_Mutation_p.K348N|OS9_uc010srz.1_Missense_Mutation_p.K321N NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 380 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCCAGGGGAAGCCAAATATAG 0.527 5 20 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81688782 81688782 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:81688782T>A uc001szo.1 - 24 2918 c.2757A>T c.(2755-2757)GCA>GCT p.A919A PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 845 ovary(3)|lung(2)|pancreas(1) 6 CTCGGCAGGCTGCCACGTACC 0.378 4 17 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100433461 100433461 + Silent SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:100433461C>G uc001tgq.2 - 20 4417 c.4188G>C c.(4186-4188)ACG>ACC p.T1396T UHRF1BP1L_uc001tgp.2_Silent_p.T1046T NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1396 ovary(2) 2 GAGTGGCTTGCGTGACACTGC 0.458 12 23 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104089339 104089339 + Silent SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:104089339A>T uc001tjw.2 + 32 3573 c.3387A>T c.(3385-3387)CCA>CCT p.P1129P NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1129 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TGCTGGTCCCACAAAGACGTC 0.468 18 43 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104489180 104489180 + Missense_Mutation SNP T G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:104489180T>G uc001tkj.3 + 11 1608 c.1505T>G c.(1504-1506)CTG>CGG p.L502R HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 502 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 AGTAGTTGCCTGGATGTAAGA 0.368 11 25 --- --- --- --- PASS SART3 9733 broad.mit.edu 37 12 108920092 108920092 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:108920092C>T uc001tmz.1 - 16 2389 c.2154G>A c.(2152-2154)CCG>CCA p.P718P SART3_uc001tmy.1_Silent_p.P244P|SART3_uc009zux.1_Silent_p.P330P|SART3_uc010swx.1_Silent_p.P682P|SART3_uc010swy.1_Silent_p.P604P|SART3_uc010swz.1_Missense_Mutation_p.G717R NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T 718 RRM 1. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 GCTTCGTGTCCGGCTCCTGCA 0.602 Porokeratosis 10 26 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109665238 109665238 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:109665238G>T uc001tob.2 + 28 4064 c.3945G>T c.(3943-3945)CCG>CCT p.P1315P ACACB_uc001toc.2_Silent_p.P1315P|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.2_5'Flank|ACACB_uc010sxm.1_5'Flank NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1315 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGCAGCTCCCGGACGGCACCT 0.587 3 3 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116446238 116446238 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:116446238C>A uc001tvw.2 - 10 2035 c.1980G>T c.(1978-1980)ATG>ATT p.M660I NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 660 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AGTTTACCTCCATTTTGGCAT 0.542 5 33 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129467608 129467608 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:129467608G>T uc010tbh.1 + 13 1038 c.1029G>T c.(1027-1029)AGG>AGT p.R343S GLT1D1_uc001uhx.1_Missense_Mutation_p.R258S|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 338 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) AGCTCATCAGGAAGCTGGAAG 0.498 39 101 --- --- --- --- PASS MMP17 4326 broad.mit.edu 37 12 132329857 132329857 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:132329857G>T uc001ujc.1 + 8 1166 c.1067G>T c.(1066-1068)CGG>CTG p.R356L MMP17_uc001ujd.1_Missense_Mutation_p.R272L NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 356 Hemopexin-like 1. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) TACTTCTGGCGGCTGACGCGG 0.706 7 9 --- --- --- --- PASS ZNF268 10795 broad.mit.edu 37 12 133779072 133779072 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr12:133779072A>G uc010tcf.1 + 6 1130 c.800A>G c.(799-801)CAA>CGA p.Q267R ZNF268_uc010tbv.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbw.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbx.1_Missense_Mutation_p.Q127R|ZNF268_uc010tby.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbz.1_Missense_Mutation_p.Q106R|ZNF268_uc010tca.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcb.1_Missense_Mutation_p.Q127R|ZNF268_uc010tcc.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcd.1_Missense_Mutation_p.Q106R|ZNF268_uc010tce.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcg.1_Missense_Mutation_p.Q106R|ZNF268_uc010tch.1_Missense_Mutation_p.Q267R NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 267 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CTTATGTGCCAACAAATGTAT 0.388 7 14 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20039417 20039417 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:20039417G>A uc001umd.2 - 10 865 c.654C>T c.(652-654)GAC>GAT p.D218D TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.D107D|TPTE2_uc001ume.2_Silent_p.D141D|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 218 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGAGGTCTAGGTCAAATCCAT 0.313 29 114 --- --- --- --- PASS PSPC1 55269 broad.mit.edu 37 13 20346607 20346607 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:20346607C>A uc001uml.2 - 2 635 c.449G>T c.(448-450)CGC>CTC p.R150L PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 150 RRM 1.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TGTAGCGAAGCGAATCCGTAG 0.458 21 60 --- --- --- --- PASS SPG20 23111 broad.mit.edu 37 13 36909559 36909559 + Nonsense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:36909559G>A uc001uvn.2 - 3 679 c.409C>T c.(409-411)CAG>TAG p.Q137* SPG20_uc010ten.1_Nonsense_Mutation_p.Q137*|SPG20_uc001uvm.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvo.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvq.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvp.2_Nonsense_Mutation_p.Q137* NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 137 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TCAGCATGCTGAGGAGCTGAA 0.458 10 22 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38145587 38145587 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:38145587G>T uc001uwo.3 - 18 2216 c.2098C>A c.(2098-2100)CTA>ATA p.L700I POSTN_uc010tet.1_Missense_Mutation_p.L201I|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.L673I|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.L673I|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 700 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACTTTTGTTAGTGTGGGTCCT 0.363 15 48 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208897 58208897 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:58208897T>A uc001vhq.1 + 1 3109 c.2217T>A c.(2215-2217)ACT>ACA p.T739T PCDH17_uc010aec.1_Silent_p.T739T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 739 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGATCCGCACTTACAACTGCC 0.557 7 34 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67799735 67799735 + Silent SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:67799735A>T uc001vik.2 - 2 3530 c.2838T>A c.(2836-2838)CCT>CCA p.P946P PCDH9_uc001vil.2_Silent_p.P946P|PCDH9_uc010thl.1_Silent_p.P946P|PCDH9_uc001vin.3_Silent_p.P946P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 946 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GATGAAAAGCAGGCTGTGGAG 0.498 22 63 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77670488 77670488 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:77670488C>G uc001vkf.2 - 58 9890 c.9799G>C c.(9799-9801)GAA>CAA p.E3267Q MYCBP2_uc010aev.2_Missense_Mutation_p.E2671Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGGTATTTTTCTCTACAGCGA 0.413 22 63 --- --- --- --- PASS POU4F1 5457 broad.mit.edu 37 13 79175661 79175661 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:79175661C>A uc001vkv.2 - 2 1383 c.1149G>T c.(1147-1149)GAG>GAT p.E383D uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 383 Homeobox. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) CGGCGATCTTCTCGGACGAGG 0.612 13 35 --- --- --- --- PASS GPR18 2841 broad.mit.edu 37 13 99907653 99907653 + Silent SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:99907653C>G uc001voe.3 - 3 975 c.474G>C c.(472-474)CTG>CTC p.L158L UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.L158L NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 158 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) CTTTATAGAGCAGTAGCAGAG 0.507 14 40 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 108518418 108518418 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:108518418G>A uc001vql.2 - 1 1043 c.527C>T c.(526-528)GCG>GTG p.A176V NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 176 integral to membrane binding skin(1) 1 GCCCGAGGACGCGCCCTGGGG 0.677 16 26 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111077187 111077187 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:111077187C>T uc001vqx.2 + 5 576 c.287C>T c.(286-288)CCC>CTC p.P96L NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 96 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGGGAGCCCCCGGAGTAACG 0.612 11 40 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296217 20296217 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:20296217G>T uc010tkv.1 + 1 610 c.610G>T c.(610-612)GGC>TGC p.G204C NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTCAACAGTGGCCTGATGAC 0.517 19 60 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296218 20296218 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:20296218G>T uc010tkv.1 + 1 611 c.611G>T c.(610-612)GGC>GTC p.G204V NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCAACAGTGGCCTGATGACA 0.517 19 59 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483161 20483161 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:20483161C>A uc010tky.1 - 1 192 c.192G>T c.(190-192)CTG>CTT p.L64L NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CTAGGTTCCCCAGCAGGAAGT 0.483 11 20 --- --- --- --- PASS FLJ10357 55701 broad.mit.edu 37 14 21547127 21547127 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:21547127G>T uc001vzp.2 + 11 2360 c.2331G>T c.(2329-2331)GTG>GTT p.V777V FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.V63V NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 777 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) ACCTGCACGTGCAGCAGCAAG 0.632 13 10 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23873577 23873577 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:23873577G>A uc001wjv.2 - 8 730 c.663C>T c.(661-663)ATC>ATT p.I221I MYH6_uc010akp.1_Silent_p.I221I NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 221 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGCCTGGATGATCTGGTCCT 0.612 30 51 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44974630 44974630 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:44974630C>A uc001wvn.2 - 1 1870 c.1561G>T c.(1561-1563)GCC>TCC p.A521S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 521 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TCAGCAGAGGCCTCTTCTGCA 0.502 5 17 --- --- --- --- PASS FAM179B 23116 broad.mit.edu 37 14 45468664 45468664 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:45468664C>G uc001wvv.2 + 3 2511 c.2302C>G c.(2302-2304)CAA>GAA p.Q768E FAM179B_uc001wvw.2_Missense_Mutation_p.Q768E|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.Q768E NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 768 binding skin(2)|upper_aerodigestive_tract(1) 3 TTCTGACTTACAATTCCTAGG 0.368 16 26 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60072126 60072126 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:60072126C>A uc001xen.1 - 5 2281 c.2072G>T c.(2071-2073)AGG>ATG p.R691M RTN1_uc001xem.1_Missense_Mutation_p.R271M|RTN1_uc001xek.1_Missense_Mutation_p.R123M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.R108M NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 691 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GAAGAGCCTCCTCAGTTCCTT 0.463 15 25 --- --- --- --- PASS C14orf135 64430 broad.mit.edu 37 14 60591742 60591742 + Silent SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:60591742A>G uc001xer.3 + 8 2673 c.2151A>G c.(2149-2151)GAA>GAG p.E717E C14orf135_uc001xeq.2_Silent_p.E717E|C14orf135_uc010apm.2_RNA NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 951 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) ATCATTCAGAAGAGAAGGCCT 0.358 22 38 --- --- --- --- PASS C14orf178 283579 broad.mit.edu 37 14 78234794 78234794 + Splice_Site SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:78234794G>T uc001xug.1 + 3 533 c.75_splice c.e3-1 p.W25_splice C14orf178_uc001xuh.1_Intron NM_174943 NP_777603 Q8N769 CN178_HUMAN hypothetical protein LOC283579 ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) attttttaCAGGCATGATCAA 0.303 5 55 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94079210 94079210 + Silent SNP C T T rs149617798 by1000genomes TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:94079210C>T uc001ybv.1 + 25 3440 c.3357C>T c.(3355-3357)CAC>CAT p.H1119H KIAA1409_uc001ybs.1_Silent_p.H1097H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1274 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GGATCGACCACCAGACAGTTC 0.522 25 73 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96773242 96773242 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:96773242C>T uc001yfi.2 - 30 4680 c.4315G>A c.(4315-4317)GAA>AAA p.E1439K NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1439 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGATTTTTCATCCAAAACA 0.343 16 16 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105408092 105408092 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:105408092C>T uc010axc.1 - 7 13816 c.13696G>A c.(13696-13698)GTG>ATG p.V4566M AHNAK2_uc001ypx.2_Missense_Mutation_p.V4466M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4566 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGACGTCCACCTGGGGGCCC 0.627 45 145 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105408109 105408109 + Missense_Mutation SNP T G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:105408109T>G uc010axc.1 - 7 13799 c.13679A>C c.(13678-13680)GAC>GCC p.D4560A AHNAK2_uc001ypx.2_Missense_Mutation_p.D4460A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4560 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCCTTGAGGTCCACTTTGGG 0.617 23 157 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105415986 105415986 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:105415986G>A uc010axc.1 - 7 5922 c.5802C>T c.(5800-5802)GAC>GAT p.D1934D AHNAK2_uc001ypx.2_Silent_p.D1834D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1934 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTTTCAGGTCCAGCTTGG 0.597 136 147 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105416541 105416541 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:105416541C>G uc010axc.1 - 7 5367 c.5247G>C c.(5245-5247)TTG>TTC p.L1749F AHNAK2_uc001ypx.2_Missense_Mutation_p.L1649F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1749 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCATCTTCAAACTGGGCA 0.652 10 233 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28478864 28478864 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:28478864C>A uc001zbj.2 - 28 4403 c.4297G>T c.(4297-4299)GTG>TTG p.V1433L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1433 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCTCTTCCACGGGATGCTCG 0.458 15 61 --- --- --- --- PASS GPR176 11245 broad.mit.edu 37 15 40094083 40094083 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:40094083G>A uc001zkj.1 - 3 1664 c.798C>T c.(796-798)GCC>GCT p.A266A GPR176_uc010uck.1_Silent_p.A206A NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 266 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AGAGCAGGGTGGCGTGCAGCT 0.582 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 43 --- --- --- --- PASS MAPKBP1 23005 broad.mit.edu 37 15 42106796 42106796 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:42106796C>T uc001zok.3 + 11 1333 c.1047C>T c.(1045-1047)GCC>GCT p.A349A MAPKBP1_uc001zoj.3_Silent_p.A343A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A343A|MAPKBP1_uc010udb.1_Silent_p.A231A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 349 WD 5. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACACCATTGCCTTGACCTTTG 0.498 31 56 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42742430 42742430 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:42742430T>C uc001zpw.2 - 2 2306 c.1971A>G c.(1969-1971)ACA>ACG p.T657T ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T440T|ZFP106_uc001zpy.1_Silent_p.T680T NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 657 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TGGCTGCAGATGTCATTTGTA 0.423 32 74 --- --- --- --- PASS SNAP23 8773 broad.mit.edu 37 15 42805639 42805639 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:42805639C>A uc001zpz.1 + 4 233 c.142C>A c.(142-144)CAA>AAA p.Q48K SNAP23_uc001zqa.1_Missense_Mutation_p.Q48K NM_003825 NP_003816 O00161 SNP23_HUMAN synaptosomal-associated protein 23 isoform 48 t-SNARE coiled-coil homology 1. cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome protein binding 0 all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;2.62e-06) GCTGGATGAACAAAAGGGTAA 0.378 15 36 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48429046 48429046 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:48429046G>A uc001zwe.2 + 6 830 c.757G>A c.(757-759)GAA>AAA p.E253K SLC24A5_uc010bel.2_Missense_Mutation_p.E193K|uc001zwf.1_5'Flank NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 253 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CTGGGAAGATGAAGGTCAACC 0.413 12 26 --- --- --- --- PASS C15orf33 196951 broad.mit.edu 37 15 49833966 49833966 + Missense_Mutation SNP G A A rs148925050 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:49833966G>A uc001zxl.2 - 10 1079 c.785C>T c.(784-786)ACG>ATG p.T262M C15orf33_uc001zxm.2_Missense_Mutation_p.T228M NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 262 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TTCATGGAACGTTGCATATAT 0.274 21 60 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 72039276 72039276 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:72039276G>A uc002atb.1 + 12 2215 c.2136G>A c.(2134-2136)CTG>CTA p.L712L THSD4_uc002ate.2_Silent_p.L352L NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 712 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 ACCGCAGCCTGACGGTGCAGC 0.642 7 12 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74554868 74554868 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:74554868G>A uc002axo.2 + 3 667 c.273G>A c.(271-273)GGG>GGA p.G91G NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 294 C2. protein binding ovary(3)|skin(2) 5 CTATCTGGGGGGACACGGTGA 0.582 11 13 --- --- --- --- PASS ARNT2 9915 broad.mit.edu 37 15 80806740 80806740 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:80806740C>A uc002bfr.2 + 8 1037 c.871C>A c.(871-873)CCA>ACA p.P291T ARNT2_uc010unm.1_Missense_Mutation_p.P280T|ARNT2_uc002bfs.2_Missense_Mutation_p.P280T NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 291 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GGCCTGGCCACCAGCAGGTAA 0.478 86 96 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83333598 83333598 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:83333598G>A uc010uoh.1 - 17 2246 c.2069C>T c.(2068-2070)TCC>TTC p.S690F AP3B2_uc010uoi.1_Missense_Mutation_p.S709F|AP3B2_uc010uoj.1_Missense_Mutation_p.S658F|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.S326F|AP3B2_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 690 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) ACTGTCTGCGGACTCCGTGGG 0.532 7 6 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83926867 83926867 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:83926867T>C uc002bjt.1 - 5 2400 c.2312A>G c.(2311-2313)AAC>AGC p.N771S BNC1_uc010uos.1_Missense_Mutation_p.N759S NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 771 C2H2-type 4. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GAGGTTTAGGTTTGAGCTGTG 0.443 12 62 --- --- --- --- PASS WDR93 56964 broad.mit.edu 37 15 90255313 90255313 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:90255313C>A uc002boj.2 + 5 719 c.618C>A c.(616-618)GAC>GAA p.D206E WDR93_uc010bnr.2_Missense_Mutation_p.D206E NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 206 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AAGGAGGGGACTTTGCAGCCT 0.418 13 36 --- --- --- --- PASS SNRPA1 6627 broad.mit.edu 37 15 101832213 101832213 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:101832213G>A uc002bww.2 - 3 340 c.263C>T c.(262-264)CCC>CTC p.P88L SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron NM_003090 NP_003081 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 88 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding kidney(1) 1 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTCAGACAGGGCAGAGCCTG 0.383 54 190 --- --- --- --- PASS TARSL2 123283 broad.mit.edu 37 15 102261405 102261405 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:102261405C>A uc002bxm.2 - 3 545 c.490G>T c.(490-492)GTA>TTA p.V164L TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 164 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCACTCTTACTGTGATGATG 0.413 71 85 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346577 102346577 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr15:102346577A>G uc010utr.1 + 1 655 c.655A>G c.(655-657)ATC>GTC p.I219V NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) AATCTCTTACATCTTTATTTT 0.378 35 61 --- --- --- --- PASS NARFL 64428 broad.mit.edu 37 16 789680 789680 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:789680C>T uc002cjr.2 - 2 137 c.125G>A c.(124-126)CGC>CAC p.R42H NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Missense_Mutation_p.R42H|NARFL_uc010uur.1_Missense_Mutation_p.R42H NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 42 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) ATCTTCAATGCGAATCTTGGC 0.537 23 55 --- --- --- --- PASS SOX8 30812 broad.mit.edu 37 16 1034811 1034811 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:1034811C>A uc002ckn.2 + 3 881 c.766C>A c.(766-768)CGC>AGC p.R256S NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 256 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GGACAGCGGGCGCCAGAACAT 0.682 6 15 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20331786 20331786 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:20331786C>T uc002dgv.2 - 6 748 c.665G>A c.(664-666)AGT>AAT p.S222N GP2_uc002dgw.2_Missense_Mutation_p.S219N|GP2_uc002dgx.2_Missense_Mutation_p.S75N|GP2_uc002dgy.2_Missense_Mutation_p.S72N NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 222 EGF-like. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AGGCTGCAAACTGTGGACATC 0.522 6 22 --- --- --- --- PASS IGSF6 10261 broad.mit.edu 37 16 21655691 21655691 + Missense_Mutation SNP G C C rs75597368 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:21655691G>C uc002djg.1 - 3 507 c.454C>G c.(454-456)CGG>GGG p.R152G uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron NM_005849 NP_005840 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 precursor 152 Extracellular (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GBM - Glioblastoma multiforme(48;0.066) AGGAAGCTCCGCAGTTCCTTG 0.418 12 44 --- --- --- --- PASS RNF40 9810 broad.mit.edu 37 16 30773976 30773976 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:30773976G>A uc002dzq.2 + 2 233 c.110G>A c.(109-111)CGT>CAT p.R37H C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.R37H|RNF40_uc010cab.2_Missense_Mutation_p.R37H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R37H|RNF40_uc010vfb.1_Missense_Mutation_p.R37H NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 37 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GAGCCCATTCGTCTTGGAGGC 0.597 8 38 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31309153 31309153 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:31309153G>T uc002ebq.2 + 14 1683 c.1585G>T c.(1585-1587)GAC>TAC p.D529Y ITGAM_uc002ebr.2_Missense_Mutation_p.D530Y|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 529 FG-GAP 6.|Extracellular (Potential).|Potential. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AGTGCTGGGGGACGTAAATGG 0.612 26 57 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48158195 48158195 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:48158195C>G uc002efc.1 - 10 1862 c.1516G>C c.(1516-1518)GGG>CGG p.G506R ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.G506R NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 506 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AAGATCTTCCCCTGCCAGAGA 0.537 20 46 --- --- --- --- PASS ATP2C2 9914 broad.mit.edu 37 16 84473128 84473128 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr16:84473128G>A uc002fhx.2 + 13 1296 c.1207G>A c.(1207-1209)GAG>AAG p.E403K ATP2C2_uc010chj.2_Missense_Mutation_p.E403K|ATP2C2_uc002fhy.2_Missense_Mutation_p.E420K|ATP2C2_uc002fhz.2_Missense_Mutation_p.E252K NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 403 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 GCTTCGTGCCGAGGTGAGTGC 0.493 36 72 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11520814 11520814 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:11520814G>T uc002gne.2 + 5 1059 c.991G>T c.(991-993)GTG>TTG p.V331L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 331 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATTTCCGGAGGTGAAGCCCCA 0.602 14 19 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27818857 27818857 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:27818857C>G uc002hdz.1 + 10 999 c.805C>G c.(805-807)CGA>GGA p.R269G TAOK1_uc010wbe.1_Missense_Mutation_p.R269G|TAOK1_uc010wbf.1_Missense_Mutation_p.R269G|TAOK1_uc002heb.1_Missense_Mutation_p.R95G NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 269 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) CCCTCAAGATCGACCTACATC 0.254 24 39 --- --- --- --- PASS COPZ2 51226 broad.mit.edu 37 17 46109586 46109586 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:46109586T>C uc002imy.2 - 10 443 c.430A>G c.(430-432)AAG>GAG p.K144E NM_016429 NP_057513 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 144 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat 0 AACCAGCGCTTCTCCACGTTC 0.597 7 25 --- --- --- --- PASS EPX 8288 broad.mit.edu 37 17 56277147 56277147 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:56277147T>C uc002ivq.2 + 9 1615 c.1529T>C c.(1528-1530)GTG>GCG p.V510A NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 510 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TGGCGGATCGTGTATGAAGGT 0.612 33 15 --- --- --- --- PASS BZRAP1 9256 broad.mit.edu 37 17 56389036 56389036 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:56389036G>A uc002ivx.3 - 18 3848 c.2977C>T c.(2977-2979)CCT>TCT p.P993S BZRAP1_uc010dcs.2_Missense_Mutation_p.P933S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P993S NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 993 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGATCCCAGGGGAGGGCCCA 0.622 13 32 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57754494 57754494 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:57754494C>T uc002ixq.1 + 17 3184 c.2741C>T c.(2740-2742)CCA>CTA p.P914L CLTC_uc002ixp.2_Missense_Mutation_p.P914L|CLTC_uc002ixr.1_Missense_Mutation_p.P918L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 914 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AAGAGAGATCCACATCTGGCC 0.393 T ALK|TFE3 ALCL|renal 31 15 --- --- --- --- PASS TBX2 6909 broad.mit.edu 37 17 59480532 59480532 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:59480532C>A uc010wox.1 + 3 1055 c.774C>A c.(772-774)ACC>ACA p.T258T TBX2_uc002ize.2_Silent_p.T248T|TBX2_uc002izg.2_Silent_p.T104T NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 258 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 TCCCGGAGACCGACTTCATCG 0.622 40 21 --- --- --- --- PASS FTSJ3 117246 broad.mit.edu 37 17 61897535 61897535 + Splice_Site SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:61897535T>C uc002jbz.2 - 19 2335 c.2257_splice c.e19-1 p.M753_splice FTSJ3_uc002jca.2_Splice_Site_p.M753_splice NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 CTTCAGCATCTGCAAAGGAAC 0.557 29 32 --- --- --- --- PASS TEX2 55852 broad.mit.edu 37 17 62290610 62290610 + Nonsense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:62290610G>C uc002jec.2 - 2 1141 c.968C>G c.(967-969)TCA>TGA p.S323* TEX2_uc002jed.2_Nonsense_Mutation_p.S323*|TEX2_uc002jee.2_Nonsense_Mutation_p.S323* NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 323 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGAAGCACTTGAAGATAAGGC 0.453 11 46 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72349680 72349680 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:72349680C>A uc002jkm.3 + 17 2406 c.2268C>A c.(2266-2268)GAC>GAA p.D756E NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 756 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CTTCCCCTGACAGCAGTGAGA 0.597 20 13 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72349681 72349681 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:72349681A>G uc002jkm.3 + 17 2407 c.2269A>G c.(2269-2271)AGC>GGC p.S757G NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 757 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TTCCCCTGACAGCAGTGAGAA 0.597 21 12 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78058646 78058646 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:78058646G>A uc010dht.2 + 13 2121 c.2094G>A c.(2092-2094)CTG>CTA p.L698L CCDC40_uc002jxm.3_Silent_p.L481L|CCDC40_uc002jxn.3_Silent_p.L94L NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 698 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGTGGAGCTGGACCAGGACG 0.562 10 35 --- --- --- --- PASS SIRT7 51547 broad.mit.edu 37 17 79872183 79872183 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr17:79872183C>A uc002kcj.1 - 7 836 c.803G>T c.(802-804)GGG>GTG p.G268V PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.G119V|SIRT7_uc002kcl.1_Missense_Mutation_p.G186V NM_016538 NP_057622 Q9NRC8 SIRT7_HUMAN sirtuin 7 268 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CAGGCTGGACCCTAGACACAG 0.617 23 25 --- --- --- --- PASS CTAGE1 64693 broad.mit.edu 37 18 19996144 19996144 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:19996144C>A uc002ktv.1 - 1 1735 c.1631G>T c.(1630-1632)GGA>GTA p.G544V NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 544 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GCTTGATTCTCCTCTTTCTTT 0.547 16 59 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28719713 28719713 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:28719713G>T uc002kwn.2 - 11 1923 c.1661C>A c.(1660-1662)GCA>GAA p.A554E DSC1_uc002kwm.2_Missense_Mutation_p.A554E NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 554 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCACTCACCTGCATCCACTGC 0.313 5 14 --- --- --- --- PASS MEP1B 4225 broad.mit.edu 37 18 29793520 29793520 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:29793520C>A uc002kxj.3 + 11 1624 c.1577C>A c.(1576-1578)ACC>AAC p.T526N NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 526 Extracellular (Potential).|MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 TTTATGACCACCGGTTCGTAA 0.418 15 60 --- --- --- --- PASS FAM59A 64762 broad.mit.edu 37 18 29867260 29867260 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:29867260G>T uc002kxl.2 - 4 1356 c.1300C>A c.(1300-1302)CTT>ATT p.L434I FAM59A_uc002kxk.1_Missense_Mutation_p.L434I NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 434 ovary(1)|skin(1) 2 TCTGGGAAAAGGTAGTCGCTC 0.562 31 75 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30873191 30873191 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:30873191C>A uc002kxn.2 - 11 1250 c.1108G>T c.(1108-1110)GAG>TAG p.E370* C18orf34_uc010xbr.1_Nonsense_Mutation_p.E370*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.E370*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.E370* NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 370 Potential. ovary(1) 1 GTCACTTCCTCTTCCTTCTCC 0.289 5 28 --- --- --- --- PASS ELP2 55250 broad.mit.edu 37 18 33710009 33710009 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:33710009G>T uc002kzk.1 + 1 123 c.113G>T c.(112-114)TGC>TTC p.C38F SLC39A6_uc010dmy.2_5'Flank|SLC39A6_uc002kzj.2_5'Flank|ELP2_uc010xcg.1_Missense_Mutation_p.C38F|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.C38F|ELP2_uc010xch.1_Missense_Mutation_p.C38F|ELP2_uc002kzn.1_Missense_Mutation_p.C38F|ELP2_uc002kzo.1_Missense_Mutation_p.C38F NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 38 WD 1. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 GGCACGTCCTGCTCCGTGGTG 0.622 11 29 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50592439 50592439 + Silent SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:50592439T>A uc002lfe.1 + 7 1751 c.1164T>A c.(1162-1164)CTT>CTA p.L388L DCC_uc010xdr.1_Silent_p.L236L|DCC_uc010dpf.1_Silent_p.L43L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 388 Extracellular (Potential).|Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TACGGATACTTGGGGTGGTGA 0.433 26 97 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65181699 65181699 + Missense_Mutation SNP A T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr18:65181699A>T uc002lke.1 - 2 1401 c.177T>A c.(175-177)GAT>GAA p.D59E NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 49 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TGGGTCTGAAATCTTGCACTT 0.378 14 47 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14273977 14273977 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:14273977C>A uc010xnn.1 - 6 947 c.651G>T c.(649-651)GTG>GTT p.V217V LPHN1_uc010xno.1_Silent_p.V212V|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 217 Olfactomedin-like.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CATCGTAGACCACAAAGCCTG 0.602 4 21 --- --- --- --- PASS ZNF43 7594 broad.mit.edu 37 19 21991722 21991722 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:21991722T>C uc002nqj.2 - 4 1247 c.1117A>G c.(1117-1119)ACA>GCA p.T373A ZNF43_uc010ecv.2_Missense_Mutation_p.T367A|ZNF43_uc002nql.2_Missense_Mutation_p.T367A|ZNF43_uc002nqm.2_Missense_Mutation_p.T367A|ZNF43_uc002nqk.2_Missense_Mutation_p.T303A NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CCACATTCTGTACATTTATAG 0.373 17 32 --- --- --- --- PASS CCNE1 898 broad.mit.edu 37 19 30313189 30313189 + Missense_Mutation SNP C A A rs139792204 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:30313189C>A uc002nsn.2 + 10 1066 c.883C>A c.(883-885)CCT>ACT p.P295T CCNE1_uc002nso.2_Missense_Mutation_p.P280T|CCNE1_uc002nsp.2_Missense_Mutation_p.P42T NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 295 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCTTGAATTTCCTTATGGTAT 0.453 28 66 --- --- --- --- PASS GAPDHS 26330 broad.mit.edu 37 19 36034322 36034322 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:36034322C>A uc002oaf.1 + 8 938 c.822C>A c.(820-822)GCC>GCA p.A274A uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 274 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GGCGGGGTGCCCACCAGAACA 0.587 15 40 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37880462 37880462 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:37880462G>A uc010efk.1 + 5 1622 c.1511G>A c.(1510-1512)GGG>GAG p.G504E ZNF527_uc002ogf.3_Missense_Mutation_p.G472E|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 504 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGTAAATGTGGGAAAGCCTTC 0.393 21 65 --- --- --- --- PASS ZNF781 163115 broad.mit.edu 37 19 38160382 38160382 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:38160382A>G uc002ogy.2 - 4 1410 c.668T>C c.(667-669)ATA>ACA p.I223T ZNF781_uc002ogz.2_Missense_Mutation_p.I218T NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCACCAGTATGAATTCTTT 0.358 4 44 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38572647 38572647 + Missense_Mutation SNP G C C rs138476311 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:38572647G>C uc002ohk.2 + 3 951 c.442G>C c.(442-444)GAC>CAC p.D148H NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 148 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AAGGTCCAAAGACGTGGAGTT 0.657 18 59 --- --- --- --- PASS IL28A 282616 broad.mit.edu 37 19 39760578 39760578 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:39760578C>T uc002oku.1 + 6 580 c.528C>T c.(526-528)GCC>GCT p.A176A NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN interleukin 28A precursor 176 response to virus extracellular space cytokine activity ovary(1)|skin(1) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCCTCGAGGCCTCTGTCACCT 0.627 7 10 --- --- --- --- PASS IRGQ 126298 broad.mit.edu 37 19 44096971 44096971 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:44096971C>T uc002oww.2 - 2 1197 c.1079G>A c.(1078-1080)GGG>GAG p.G360E IRGQ_uc010eiv.2_Missense_Mutation_p.G360E NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 360 Poly-Gly. protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) CTCCAATCCCCCTCCACCTGC 0.597 36 110 --- --- --- --- PASS TOMM40 10452 broad.mit.edu 37 19 45397079 45397079 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:45397079C>G uc002ozx.3 + 5 579 c.478C>G c.(478-480)CTC>GTC p.L160V TOMM40_uc002ozy.3_Missense_Mutation_p.L160V|TOMM40_uc002paa.3_Missense_Mutation_p.L160V|TOMM40_uc002ozz.2_Missense_Mutation_p.L160V NM_006114 NP_006105 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 160 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) CAGTGGCAGTCTCAACGCTCA 0.612 7 25 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45888902 45888902 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:45888902G>A uc002pbn.2 - 11 2243 c.2166C>T c.(2164-2166)ACC>ACT p.T722T PPP1R13L_uc002pbm.2_Silent_p.T301T|PPP1R13L_uc002pbo.2_Silent_p.T722T NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 722 ANK 2. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGCTGAGCGTGGTGGCGAAGA 0.667 4 16 --- --- --- --- PASS CARD8 22900 broad.mit.edu 37 19 48734082 48734082 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:48734082C>G uc002pie.3 - 5 722 c.409G>C c.(409-411)GAG>CAG p.E137Q CARD8_uc002pii.3_Missense_Mutation_p.E242Q|CARD8_uc010xzi.1_Missense_Mutation_p.E137Q|CARD8_uc010els.2_Missense_Mutation_p.E175Q|CARD8_uc010xzj.1_Missense_Mutation_p.E242Q|CARD8_uc010xzk.1_Missense_Mutation_p.E161Q|CARD8_uc002pif.3_Missense_Mutation_p.E137Q|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.E192Q|CARD8_uc010xzl.1_Missense_Mutation_p.E192Q|CARD8_uc010xzm.1_Missense_Mutation_p.E242Q NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 137 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) ACAGCCTCCTCTGGCTCTGCA 0.632 14 44 --- --- --- --- PASS SIGLEC11 114132 broad.mit.edu 37 19 50462101 50462101 + Missense_Mutation SNP G T T rs145434757 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:50462101G>T uc010ybh.1 - 7 1253 c.1162C>A c.(1162-1164)CGC>AGC p.R388S SIGLEC11_uc010ybi.1_Missense_Mutation_p.R388S NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 388 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGACCAGGCGCAGGCTTTGG 0.677 12 18 --- --- --- --- PASS ZNF473 25888 broad.mit.edu 37 19 50549003 50549003 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:50549003G>C uc002prn.2 + 5 1540 c.1303G>C c.(1303-1305)GAG>CAG p.E435Q ZNF473_uc002prm.2_Missense_Mutation_p.E435Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E423Q NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 435 C2H2-type 7.|Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CAAATGCAGTGAGTGTGGGAA 0.483 37 50 --- --- --- --- PASS ZNF473 25888 broad.mit.edu 37 19 50549375 50549375 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:50549375G>C uc002prn.2 + 5 1912 c.1675G>C c.(1675-1677)GAG>CAG p.E559Q ZNF473_uc002prm.2_Missense_Mutation_p.E559Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E547Q NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 559 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGAACAGAAAGAGAAGTGCTT 0.458 27 26 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51200905 51200905 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:51200905C>T uc002psx.1 - 13 1897 c.1878G>A c.(1876-1878)AAG>AAA p.K626K NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 626 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GTCTCTTTGCCTTGTCACTGC 0.547 22 96 --- --- --- --- PASS CD33 945 broad.mit.edu 37 19 51729094 51729094 + Missense_Mutation SNP A T T rs149059669 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:51729094A>T uc002pwa.2 + 3 494 c.454A>T c.(454-456)ACT>TCT p.T152S CD33_uc010eos.1_Missense_Mutation_p.T152S|CD33_uc010eot.1_Missense_Mutation_p.T25S|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 152 Extracellular (Potential).|Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CATCCCTGGCACTCTAGAACC 0.587 61 69 --- --- --- --- PASS C19orf75 284369 broad.mit.edu 37 19 51769043 51769043 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:51769043T>C uc002pwb.1 + 4 698 c.317T>C c.(316-318)TTG>TCG p.L106S C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.L12S NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 106 integral to membrane ovary(1)|pancreas(1) 2 AAGAGTTCTTTGGCTGCCCAG 0.537 46 215 --- --- --- --- PASS VN1R4 317703 broad.mit.edu 37 19 53770038 53770038 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:53770038C>A uc010ydu.1 - 1 881 c.881G>T c.(880-882)AGG>ATG p.R294M NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 294 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) AAAACAAAACCTGTATACACT 0.393 HNSCC(26;0.072) 9 86 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55349311 55349311 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:55349311T>C uc002qhm.1 + 3 397 c.351T>C c.(349-351)CCT>CCC p.P117P KIR2DS4_uc010yfj.1_Silent_p.P110P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P117P|KIR2DS4_uc002qhn.1_Silent_p.P64P NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 117 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CCAGTGACCCTCTGGACATGG 0.507 11 379 --- --- --- --- PASS TMEM150B 284417 broad.mit.edu 37 19 55832413 55832413 + Splice_Site SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:55832413C>G uc010esw.1 - 3 166 c.-7_splice c.e3-1 TMEM150B_uc010yfu.1_5'UTR|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_Splice_Site|TMEM150B_uc002qki.2_5'UTR NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor integral to membrane 0 ATGCCGGGCTCTGCAGGTGAA 0.597 14 16 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369842 56369842 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:56369842G>T uc002qmd.3 + 3 1505 c.1083G>T c.(1081-1083)CTG>CTT p.L361L NLRP4_uc002qmf.2_Silent_p.L286L|NLRP4_uc010etf.2_Silent_p.L192L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 361 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAAAGACCTGGCCCTGACCT 0.532 27 30 --- --- --- --- PASS ZNF211 10520 broad.mit.edu 37 19 58152141 58152141 + Missense_Mutation SNP A C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:58152141A>C uc002qpq.2 + 3 467 c.287A>C c.(286-288)CAG>CCG p.Q96P ZNF211_uc010yhb.1_Missense_Mutation_p.Q100P|ZNF211_uc002qpp.2_Missense_Mutation_p.Q109P|ZNF211_uc002qpr.2_Missense_Mutation_p.Q160P|ZNF211_uc002qps.2_Missense_Mutation_p.Q161P|ZNF211_uc002qpt.2_Missense_Mutation_p.Q108P|ZNF211_uc010yhc.1_Missense_Mutation_p.Q108P|ZNF211_uc010yhd.1_Missense_Mutation_p.Q35P|ZNF211_uc010yhe.1_Missense_Mutation_p.Q87P NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 96 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAGTGCCACAGTTCAGGACT 0.433 9 38 --- --- --- --- PASS ZNF211 10520 broad.mit.edu 37 19 58153536 58153536 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:58153536G>T uc002qpq.2 + 3 1862 c.1682G>T c.(1681-1683)GGA>GTA p.G561V ZNF211_uc010yhb.1_Missense_Mutation_p.G565V|ZNF211_uc002qpp.2_Missense_Mutation_p.G574V|ZNF211_uc002qpr.2_Missense_Mutation_p.G625V|ZNF211_uc002qps.2_Missense_Mutation_p.G626V|ZNF211_uc002qpt.2_Missense_Mutation_p.G573V|ZNF211_uc010yhc.1_Missense_Mutation_p.G573V|ZNF211_uc010yhd.1_Missense_Mutation_p.G500V|ZNF211_uc010yhe.1_Missense_Mutation_p.G552V NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 561 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTCACATTGGAGAAAAGCCT 0.433 33 120 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58579130 58579130 + Silent SNP C T T rs141591921 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:58579130C>T uc010yhq.1 + 5 1410 c.1314C>T c.(1312-1314)ACC>ACT p.T438T ZNF135_uc002qre.2_Silent_p.T426T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T|ZNF135_uc010yhr.1_Silent_p.T247T NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 438 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CACTCCTGACCGAGCATCGGA 0.547 24 59 --- --- --- --- PASS ANGPT4 51378 broad.mit.edu 37 20 896599 896599 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:896599C>G uc002wei.2 - 1 362 c.259G>C c.(259-261)GTG>CTG p.V87L ANGPT4_uc010zpn.1_Missense_Mutation_p.V81L NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 87 Potential. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 AGCTGTTTCACCTGCTGGGTG 0.637 15 59 --- --- --- --- PASS SIRPB1 10326 broad.mit.edu 37 20 1552435 1552435 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:1552435C>A uc010gai.2 - 3 781 c.682G>T c.(682-684)GAG>TAG p.E228* SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 228 Ig-like C1-type 1.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 TGGGCTATCTCGCAGATGACT 0.607 20 59 --- --- --- --- PASS ADAM33 80332 broad.mit.edu 37 20 3652789 3652789 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:3652789C>G uc002wit.2 - 14 1676 c.1589G>C c.(1588-1590)TGG>TCG p.W530S ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.W530S|ADAM33_uc002wis.2_Missense_Mutation_p.W52S|ADAM33_uc002wiu.2_Missense_Mutation_p.W530S|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 530 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 ACCAGGCCCCCAGAGCTGCTG 0.642 9 20 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5904410 5904410 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:5904410C>A uc002wmg.2 + 4 1926 c.1620C>A c.(1618-1620)GAC>GAA p.D540E CHGB_uc010zqz.1_Missense_Mutation_p.D223E NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 540 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 AAAGAAGAGACAACATGAATG 0.448 18 58 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8862385 8862385 + Silent SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:8862385T>C uc002wnb.2 + 32 3543 c.3540T>C c.(3538-3540)GGT>GGC p.G1180G PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1180 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GCAATCACGGTTCTGCCCCTC 0.483 53 186 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9368183 9368183 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:9368183T>A uc002wnf.2 + 14 1274 c.1138T>A c.(1138-1140)TGT>AGT p.C380S PLCB4_uc010gbw.1_Missense_Mutation_p.C380S|PLCB4_uc010gbx.2_Missense_Mutation_p.C380S|PLCB4_uc002wne.2_Missense_Mutation_p.C380S|PLCB4_uc002wnh.2_Missense_Mutation_p.C227S NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 380 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AAAAGCAATGTGTACAGATAT 0.343 16 32 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20486105 20486105 + Nonsense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:20486105C>A uc002wrz.2 - 34 5145 c.5002G>T c.(5002-5004)GAA>TAA p.E1668* RALGAPA2_uc010gcx.2_Nonsense_Mutation_p.E1372*|RALGAPA2_uc010zsg.1_Nonsense_Mutation_p.E1116*|RALGAPA2_uc002wsa.1_Nonsense_Mutation_p.E440* NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1668 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CTTCCTCTTTCATTAGAGAGG 0.373 5 12 --- --- --- --- PASS DNMT3B 1789 broad.mit.edu 37 20 31380550 31380550 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:31380550G>A uc002wyc.2 + 9 1361 c.1040G>A c.(1039-1041)GGC>GAC p.G347D DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.G347D|DNMT3B_uc002wye.2_Missense_Mutation_p.G347D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G305D|DNMT3B_uc010zua.1_Missense_Mutation_p.G271D|DNMT3B_uc002wyf.2_Missense_Mutation_p.G359D|DNMT3B_uc002wyg.2_Missense_Mutation_p.G46D NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 347 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 GGGATCGAGGGCCTCAAACCC 0.632 20 32 --- --- --- --- PASS SLC32A1 140679 broad.mit.edu 37 20 37356487 37356487 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:37356487G>T uc002xjc.2 + 2 1046 c.783G>T c.(781-783)AAG>AAT p.K261N NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 261 Helical; (Potential). K -> R (in Ref. 4; AAH36458). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGAACCTCAAGGCCGTGTCCA 0.597 9 19 --- --- --- --- PASS DHX35 60625 broad.mit.edu 37 20 37657096 37657096 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:37657096G>A uc002xjh.2 + 19 1848 c.1837G>A c.(1837-1839)GGC>AGC p.G613S DHX35_uc010zwa.1_Missense_Mutation_p.G458S|DHX35_uc010zwb.1_Missense_Mutation_p.G458S|DHX35_uc010zwc.1_Missense_Mutation_p.G582S NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 613 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CATTGTCTCCGGCTTCTTCGC 0.493 32 62 --- --- --- --- PASS SEMG1 6406 broad.mit.edu 37 20 43836175 43836175 + Silent SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:43836175C>T uc002xni.2 + 2 294 c.237C>T c.(235-237)TCC>TCT p.S79S SEMG1_uc002xnj.2_Silent_p.S79S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.S79S NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 79 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) ATGACCAGTCCCGAAAAAGTC 0.383 18 79 --- --- --- --- PASS ZNF217 7764 broad.mit.edu 37 20 52193465 52193465 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:52193465T>A uc002xwq.3 - 3 2109 c.1838A>T c.(1837-1839)AAA>ATA p.K613I ZNF217_uc010gij.1_Missense_Mutation_p.K605I NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 613 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TTTATTCACTTTATCAGCACT 0.438 23 36 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58318296 58318296 + Missense_Mutation SNP A G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr20:58318296A>G uc002yau.2 + 2 720 c.253A>G c.(253-255)AAC>GAC p.N85D PHACTR3_uc002yat.2_Missense_Mutation_p.N82D|PHACTR3_uc010zzw.1_Missense_Mutation_p.N44D|PHACTR3_uc002yav.2_Missense_Mutation_p.N44D|PHACTR3_uc002yaw.2_Missense_Mutation_p.N44D|PHACTR3_uc002yax.2_Missense_Mutation_p.N44D NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 85 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAAAAAGAAAAACGAAAAACT 0.567 17 39 --- --- --- --- PASS KRTAP13-2 337959 broad.mit.edu 37 21 31744283 31744283 + Silent SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr21:31744283G>A uc002ynz.3 - 1 275 c.249C>T c.(247-249)CCC>CCT p.P83P NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 83 4.|5 X 10 AA approximate repeats. intermediate filament 0 AGGAGGTTCTGGGGCGGTAGC 0.607 16 33 --- --- --- --- PASS KRTAP13-3 337960 broad.mit.edu 37 21 31797811 31797811 + Missense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr21:31797811C>G uc002yob.1 - 1 420 c.420G>C c.(418-420)CAG>CAC p.Q140H NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 140 intermediate filament ovary(1)|lung(1) 2 ATCTATAACTCTGGGAAGGGG 0.468 8 22 --- --- --- --- PASS PWP2 5822 broad.mit.edu 37 21 45548185 45548185 + Missense_Mutation SNP T C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr21:45548185T>C uc002zeb.2 + 19 2507 c.2417T>C c.(2416-2418)TTA>TCA p.L806S NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 806 cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CTGGAGTTTTTAGCTTCCTCC 0.478 18 44 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45815337 45815337 + Nonsense_Mutation SNP C G G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr21:45815337C>G uc002zet.1 + 13 2048 c.1835C>G c.(1834-1836)TCA>TGA p.S612* TRPM2_uc002zeu.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zew.1_Nonsense_Mutation_p.S612*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zex.1_Nonsense_Mutation_p.S398*|TRPM2_uc002zey.1_Nonsense_Mutation_p.S125* NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 612 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AAGCGTTCCTCAGGCCATGTG 0.502 26 90 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46310005 46310005 + Silent SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr21:46310005C>A uc002zgd.2 - 11 1589 c.1545G>T c.(1543-1545)GGG>GGT p.G515G ITGB2_uc002zge.2_Silent_p.G515G|ITGB2_uc002zgf.3_Silent_p.G515G|ITGB2_uc011afl.1_Silent_p.G437G|ITGB2_uc010gpw.2_Silent_p.G458G|ITGB2_uc002zgg.2_Silent_p.G515G NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 515 II.|Extracellular (Potential).|Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) ACAGGCACTGCCCGCAGACAC 0.617 7 25 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37322057 37322057 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr22:37322057C>T uc003aqa.3 + 4 446 c.229C>T c.(229-231)CTC>TTC p.L77F CSF2RB_uc003aqc.3_Missense_Mutation_p.L77F NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 77 Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) GTCCTGTGACCTCAGTGATGA 0.502 8 10 --- --- --- --- PASS POLR3H 171568 broad.mit.edu 37 22 41926859 41926859 + Silent SNP G A A rs140901049 byFrequency TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr22:41926859G>A uc003baf.2 - 6 453 c.393C>T c.(391-393)TAC>TAT p.Y131Y POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.Y131Y|POLR3H_uc003bai.2_Silent_p.Y102Y NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 131 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 CCTCCGTCTCGTACTCCCACA 0.642 15 24 --- --- --- --- PASS FRMPD4 9758 broad.mit.edu 37 X 12735105 12735105 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:12735105G>T uc004cuz.1 + 15 3033 c.2527G>T c.(2527-2529)GAT>TAT p.D843Y FRMPD4_uc011mij.1_Missense_Mutation_p.D835Y NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 843 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCTGCAAAATGATGAGATCCC 0.577 30 25 --- --- --- --- PASS MED14 9282 broad.mit.edu 37 X 40539210 40539210 + Missense_Mutation SNP C T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:40539210C>T uc004dex.3 - 21 2926 c.2786G>A c.(2785-2787)CGG>CAG p.R929Q NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 929 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 ACCTCGACTCCGGCAGTATAT 0.463 6 24 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50136227 50136227 + Silent SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:50136227G>T uc010njr.1 - 9 1578 c.1518C>A c.(1516-1518)ATC>ATA p.I506I NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 506 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GGAGGAAGACGATCCCCTGAT 0.448 18 16 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73069027 73069027 + RNA SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:73069027G>C uc004ebm.1 - 1 c.3562C>G NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 TTACTACTTTGTTCTTTAATT 0.433 15 11 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132500 91132500 + Missense_Mutation SNP G T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:91132500G>T uc004efk.1 + 2 2106 c.1261G>T c.(1261-1263)GCA>TCA p.A421S PCDH11X_uc004efl.1_Missense_Mutation_p.A421S|PCDH11X_uc004efo.1_Missense_Mutation_p.A421S|PCDH11X_uc010nmv.1_Missense_Mutation_p.A421S|PCDH11X_uc004efm.1_Missense_Mutation_p.A421S|PCDH11X_uc004efn.1_Missense_Mutation_p.A421S|PCDH11X_uc004efh.1_Missense_Mutation_p.A421S|PCDH11X_uc004efj.1_Missense_Mutation_p.A421S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 421 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCTGGAGACTGCAGCATATCT 0.433 22 25 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100503557 100503557 + Missense_Mutation SNP G C C rs149294275 by1000genomes TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:100503557G>C uc004egz.2 + 14 1878 c.1509G>C c.(1507-1509)TTG>TTC p.L503F DRP2_uc011mrh.1_Missense_Mutation_p.L425F NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 503 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 TTGCATGCTTGTGTGGCACGG 0.468 58 58 --- --- --- --- PASS VGLL1 51442 broad.mit.edu 37 X 135631089 135631089 + Missense_Mutation SNP G A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:135631089G>A uc004ezy.2 + 3 726 c.556G>A c.(556-558)GCC>ACC p.A186T MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) GGAATCTGCCGCCAGGGAGAA 0.577 38 23 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147030327 147030327 + Missense_Mutation SNP T A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:147030327T>A uc010nst.2 + 17 2051 c.1862T>A c.(1861-1863)GTG>GAG p.V621E FMR1_uc004fcj.2_Missense_Mutation_p.V581E|FMR1_uc004fck.3_Missense_Mutation_p.V575E|FMR1_uc004fcl.3_Missense_Mutation_p.V461E|FMR1_uc011mxa.1_Missense_Mutation_p.V251E NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 621 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCAGACAGCGTGGATGGTCAG 0.423 Fragile_X_syndrome 27 23 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150912443 150912443 + Missense_Mutation SNP G C C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:150912443G>C uc004fey.1 + 7 1692 c.1468G>C c.(1468-1470)GAG>CAG p.E490Q NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 490 cAMP (By similarity).|Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) catcggcaaGGAGATGTACAT 0.423 35 35 --- --- --- --- PASS RBMY1A1 5940 broad.mit.edu 37 Y 23702602 23702602 + Missense_Mutation SNP C A A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrY:23702602C>A uc004fuq.3 + 4 444 c.332C>A c.(331-333)TCT>TAT p.S111Y RBMY1A1_uc010nxa.2_Missense_Mutation_p.S111Y|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.S76Y NM_001006120 NP_001006120 Q15414 RBY1A_HUMAN RNA binding motif protein, Y-linked, family 1, 111 mRNA processing|RNA splicing|spermatogenesis nucleus nucleotide binding|RNA binding 0 AGTCTGAGATCTGCAAGAGGA 0.458 8 70 --- --- --- --- PASS WDR1 9948 broad.mit.edu 37 4 10089385 10089385 + Frame_Shift_Del DEL C - - TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr4:10089385delC uc003gmf.2 - 8 1180 c.897delG c.(895-897)GGGfs p.G299fs WDR1_uc003gmg.2_Frame_Shift_Del_p.G159fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Del_p.G134fs NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 299 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) AGTTGATGTACCCGGACAGGG 0.607 10 7 --- --- --- --- Unknown 0 broad.mit.edu 37 8 37593486 37593487 + Frame_Shift_Ins INS - A A rs112819064 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:37593486_37593487insA uc003xkb.1 - 2 878_879 c.529_530insT c.(529-531)TCTfs p.S177fs ERLIN2_uc003xkc.3_5'Flank|ERLIN2_uc003xkd.2_5'Flank|ERLIN2_uc003xke.3_5'Flank|ERLIN2_uc003xkf.3_5'Flank|ERLIN2_uc003xkg.2_5'Flank SubName: Full=Putative uncharacterized protein ENSP00000328874; ATCAAGGAGAGAAAAAAAAAAA 0.203 4 2 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT - - rs3055861 TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr8:41166638_41166640delGCT uc003xnt.2 - 1 341_343 c.39_41delAGC c.(37-42)GCAGCC>GCC p.13_14AA>A NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 13_14 Missing (in Ref. 1 and 3). brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 4 4 --- --- --- --- FRY 10129 broad.mit.edu 37 13 32868646 32868646 + Frame_Shift_Del DEL A - - TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr13:32868646delA uc001utx.2 + 60 9218 c.8722delA c.(8722-8724)ATGfs p.M2908fs FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Frame_Shift_Del_p.M439fs|FRY_uc010tdx.1_Frame_Shift_Del_p.M278fs NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2908 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CATCCAGTCCATGCTGGAGTG 0.547 39 20 --- --- --- --- C14orf105 55195 broad.mit.edu 37 14 57949802 57949803 + Frame_Shift_Ins INS - T T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr14:57949802_57949803insT uc001xcy.2 - 3 516_517 c.373_374insA c.(373-375)AGGfs p.R125fs C14orf105_uc010trl.1_Frame_Shift_Ins_p.R125fs|C14orf105_uc010trm.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc010trn.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc001xcz.2_Frame_Shift_Ins_p.R125fs|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Frame_Shift_Ins_p.R47fs NM_018168 NP_060638 Q9NVL8 CN105_HUMAN hypothetical protein LOC55195 125 0 GTGCATTGTCCTGGCTTCTCGC 0.530 22 12 --- --- --- --- SSC5D 284297 broad.mit.edu 37 19 56029616 56029617 + In_Frame_Ins INS - CCA CCA rs150781976 by1000genomes TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chr19:56029616_56029617insCCA uc002qlg.3 + 14 4060_4061 c.3973_3974insCCA c.(3973-3975)CCC>CCCACC p.1327_1328insT NM_001144950 NP_001138422 A1L4H1 SRCRL_HUMAN scavenger receptor cysteine-rich glycoprotein 1327_1328 Thr-rich.|Pro-rich. extracellular region|membrane scavenger receptor activity 0 gacccctcaccccACAACTCCT 0.267 4 2 --- --- --- --- STARD8 9754 broad.mit.edu 37 X 67937289 67937289 + Frame_Shift_Del DEL C - - TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:67937289delC uc004dxa.2 + 5 665 c.293delC c.(292-294)GCCfs p.A98fs STARD8_uc004dxb.2_Frame_Shift_Del_p.A178fs|STARD8_uc004dxc.3_Frame_Shift_Del_p.A98fs NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 98 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CCAGGCCGTGCCCCCAGCTCG 0.647 4 5 --- --- --- --- GPR101 83550 broad.mit.edu 37 X 136113576 136113576 + Frame_Shift_Del DEL G - - TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx fab8faeb-35b3-42f0-b0af-4dfb1325a21a 67957e04-4311-47a6-b98a-2531bc6aeed5 g.chrX:136113576delG uc011mwh.1 - 1 258 c.258delC c.(256-258)CCCfs p.P86fs NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 86 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CCACCACCCAGGGGGCCACGA 0.617 17 17 --- --- --- ---