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 KIAA0562 9731 broad.mit.edu 37 1 3756192 3756192 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:3756192C>A uc001aky.2 - 7 1074 c.715G>T c.(715-717)GCC>TCC p.A239S KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.A239S NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 239 Potential. centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TCAGCAATGGCTTGTTTTAGT 0.353 23 125 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12378287 12378287 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:12378287G>A uc001atv.2 + 31 7448 c.7307G>A c.(7306-7308)AGC>AAC p.S2436N VPS13D_uc001atw.2_Missense_Mutation_p.S2436N|VPS13D_uc001atx.2_Missense_Mutation_p.S1624N|VPS13D_uc001aty.1_Missense_Mutation_p.S174N NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2436 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) AACTCTAGCAGCGAATCTGCT 0.443 4 137 --- --- --- --- PASS COL16A1 1307 broad.mit.edu 37 1 32148971 32148971 + Splice_Site SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:32148971C>T uc001btk.1 - 35 2745 c.2380_splice c.e35-1 p.G794_splice COL16A1_uc001btj.1_Splice_Site_p.G623_splice|COL16A1_uc001btl.3_Splice_Site_p.G794_splice NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CAGGCTCCCCCTGCAAGTCAG 0.627 12 180 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145474029 145474029 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:145474029C>T uc001enq.1 + 4 1994 c.701C>T c.(700-702)CCA>CTA p.P234L NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 234 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCCCCAAACCACCACGCCAT 0.627 5 76 --- --- --- --- PASS LCE3E 353145 broad.mit.edu 37 1 152538557 152538557 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:152538557C>A uc001faa.2 - 2 184 c.128G>T c.(127-129)GGC>GTC p.G43V NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 43 keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) AGGGCCACAGCCCCCAGAGCT 0.657 7 66 --- --- --- --- PASS CRABP2 1382 broad.mit.edu 37 1 156670390 156670390 + Nonsense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:156670390C>A uc001fpr.2 - 3 447 c.310G>T c.(310-312)GAG>TAG p.E104* NM_001878 NP_001869 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 104 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity upper_aerodigestive_tract(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) TTGGGGCCCTCTCCCTTCAGG 0.552 12 89 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158226635 158226635 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:158226635G>C uc001frt.2 + 4 1197 c.664G>C c.(664-666)GTG>CTG p.V222L NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 222 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TCTGCAGCTTGTGTGCCATGT 0.582 13 87 --- --- --- --- PASS SLAMF1 6504 broad.mit.edu 37 1 160607107 160607107 + Nonsense_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:160607107T>A uc001fwl.3 - 2 635 c.289A>T c.(289-291)AAG>TAG p.K97* SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Nonsense_Mutation_p.K97* NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 97 Extracellular (Potential). interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGATAAAACTTGTAGCGATCT 0.478 19 110 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176740282 176740282 + Missense_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:176740282T>A uc001gkz.2 + 17 5845 c.4681T>A c.(4681-4683)TAT>AAT p.Y1561N PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1561 Sushi 3. 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 ACCAGGGTACTATGTGGCAGA 0.473 10 58 --- --- --- --- PASS NCF2 4688 broad.mit.edu 37 1 183543638 183543638 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:183543638G>T uc001gqj.3 - 4 760 c.485C>A c.(484-486)GCG>GAG p.A162E NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.A162E NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 162 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 ACACTCCATCGCCTTGTCGAT 0.463 27 245 --- --- --- --- PASS PPP1R12B 4660 broad.mit.edu 37 1 202317984 202317984 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:202317984C>T uc001gya.1 + 1 149 c.5C>T c.(4-6)GCG>GTG p.A2V PPP1R12B_uc001gxy.2_Missense_Mutation_p.A2V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.A2V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.A2V NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 2 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GGAGCAATGGCGGAACTGGAG 0.652 9 60 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237872358 237872358 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr1:237872358G>T uc001hyl.1 + 69 10222 c.10102G>T c.(10102-10104)GCC>TCC p.A3368S RYR2_uc010pxz.1_Missense_Mutation_p.A323S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3368 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGATCTCTATGCCTTCTACCC 0.458 5 44 --- --- --- --- PASS CPSF3 51692 broad.mit.edu 37 2 9582063 9582063 + Silent SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:9582063T>C uc002qzo.1 + 9 1088 c.1053T>C c.(1051-1053)GGT>GGC p.G351G CPSF3_uc010ewx.1_Silent_p.G351G|CPSF3_uc002qzp.1_Silent_p.G314G NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 351 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AGAGGAATGGTGTCATTATAG 0.458 22 147 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15760423 15760423 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:15760423G>T uc002rce.2 + 17 1586 c.1298G>T c.(1297-1299)GGA>GTA p.G433V DDX1_uc010yjq.1_Missense_Mutation_p.G341V NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 433 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GACTTAAAAGGAGAAGACTCT 0.413 21 82 --- --- --- --- PASS OSR1 130497 broad.mit.edu 37 2 19552084 19552084 + Silent SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:19552084C>G uc002rdc.2 - 3 1056 c.753G>C c.(751-753)ACG>ACC p.T251T NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN odd-skipped related 1 251 C2H2-type 3. chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) GTGAGTGTAGCGTCTTGTGGA 0.507 10 77 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32842813 32842813 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:32842813G>A uc010ezu.2 + 74 14550 c.14416G>A c.(14416-14418)GAA>AAA p.E4806K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4806 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TCAGCTCCGCGAAGAGTTGCT 0.502 7 42 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39509662 39509662 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:39509662T>C uc002rro.2 - 22 1712 c.1621A>G c.(1621-1623)AAA>GAA p.K541E MAP4K3_uc002rrp.2_Missense_Mutation_p.K520E|MAP4K3_uc010yns.1_Missense_Mutation_p.K94E NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 541 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) ACATGCACTTTAGGTGTTGGA 0.328 7 80 --- --- --- --- PASS PAPOLG 64895 broad.mit.edu 37 2 61019336 61019336 + Missense_Mutation SNP C G G rs149643688 TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:61019336C>G uc002sai.2 + 17 1822 c.1591C>G c.(1591-1593)CTG>GTG p.L531V PAPOLG_uc002saj.2_Missense_Mutation_p.L220V|PAPOLG_uc002sak.2_Missense_Mutation_p.L66V|PAPOLG_uc010fch.2_Missense_Mutation_p.L220V NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 531 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TAGCAGTTGTCTGGATAGCTC 0.433 30 121 --- --- --- --- PASS REL 5966 broad.mit.edu 37 2 61149294 61149294 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:61149294C>G uc002sam.1 + 11 1708 c.1484C>G c.(1483-1485)TCT>TGT p.S495C REL_uc002san.1_Missense_Mutation_p.S463C NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 495 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TCTAATTGTTCTGTGAATATG 0.408 A Hodgkin Lymphoma 3 153 --- --- --- --- PASS PDCL3 79031 broad.mit.edu 37 2 101188144 101188144 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:101188144G>T uc002tao.2 + 5 573 c.461G>T c.(460-462)TGC>TTC p.C154F NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 154 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 TCAACAACCTGCATACCCAAT 0.433 35 148 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116572486 116572486 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:116572486C>G uc002tla.1 + 20 2275 c.1818C>G c.(1816-1818)TTC>TTG p.F606L DPP10_uc002tlb.1_Missense_Mutation_p.F556L|DPP10_uc002tlc.1_Missense_Mutation_p.F602L|DPP10_uc002tle.2_Missense_Mutation_p.F610L|DPP10_uc002tlf.1_Missense_Mutation_p.F599L NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 606 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GAAGTGGATTCCAGGGTCTGA 0.403 11 94 --- --- --- --- PASS TSN 7247 broad.mit.edu 37 2 122520626 122520626 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:122520626A>G uc002tnl.2 + 5 654 c.419A>G c.(418-420)TAT>TGT p.Y140C TSN_uc002tnm.2_Missense_Mutation_p.Y93C|TSN_uc010yze.1_Intron|TSN_uc010flt.2_RNA NM_004622 NP_004613 Q15631 TSN_HUMAN translin 140 DNA recombination cytoplasm|nucleus sequence-specific DNA binding breast(2)|large_intestine(1) 3 Ovarian(717;0.0563)|Prostate(154;0.116) GTAGAAGATTATCTCTCAGGA 0.368 4 45 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138414443 138414443 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:138414443G>T uc002tva.1 + 22 4096 c.4096G>T c.(4096-4098)GTG>TTG p.V1366L THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTTGAGACTGTGGGCCGCCA 0.473 11 82 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 142567923 142567923 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:142567923T>C uc002tvj.1 - 2 1102 c.130A>G c.(130-132)ACT>GCT p.T44A LRP1B_uc010fnl.1_Missense_Mutation_p.T81A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 44 Extracellular (Potential).|LDL-receptor class A 1. 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) GAGACACAAGTCACGTGATCG 0.443 TSP Lung(27;0.18) 6 48 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165947222 165947222 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:165947222G>T uc002ucx.2 - 28 5933 c.5441C>A c.(5440-5442)TCT>TAT p.S1814Y SCN3A_uc010zcy.1_Missense_Mutation_p.S297Y|SCN3A_uc002ucy.2_Missense_Mutation_p.S1765Y|SCN3A_uc002ucz.2_Missense_Mutation_p.S1765Y NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1814 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TGCAAAATCAGAGAGTTTAGA 0.483 27 132 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167133750 167133750 + Silent SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:167133750A>G uc010fpl.2 - 16 2925 c.2584T>C c.(2584-2586)TTG>CTG p.L862L uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 873 II.|Helical; Name=S5 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ATGATGGCCAACACTAAGGTG 0.463 31 154 --- --- --- --- PASS RBM45 129831 broad.mit.edu 37 2 178990747 178990747 + Silent SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:178990747A>G uc002ulv.2 + 9 1361 c.1269A>G c.(1267-1269)TCA>TCG p.S423S NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 425 RRM 3. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) ACCTTGTGTCAGGAAAAAATG 0.328 15 70 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640666 179640666 + Missense_Mutation SNP T G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:179640666T>G uc010zfg.1 - 28 6149 c.5925A>C c.(5923-5925)GAA>GAC p.E1975D TTN_uc010zfh.1_Missense_Mutation_p.E1929D|TTN_uc010zfi.1_Missense_Mutation_p.E1929D|TTN_uc010zfj.1_Missense_Mutation_p.E1929D|TTN_uc002unb.2_Missense_Mutation_p.E1975D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1975 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) ACTTCACAACTTCTTTGGTTT 0.448 31 193 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220162155 220162155 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr2:220162155C>A uc002vkz.2 - 14 1977 c.1888G>T c.(1888-1890)GAC>TAC p.D630Y PTPRN_uc010zlc.1_Missense_Mutation_p.D540Y|PTPRN_uc002vla.2_Missense_Mutation_p.D601Y NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 630 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CGGCACAGGTCCTGTGGAGGA 0.582 4 66 --- --- --- --- PASS EPM2AIP1 9852 broad.mit.edu 37 3 37033218 37033218 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:37033218C>G uc003cgk.2 - 1 1578 c.1351G>C c.(1351-1353)GAT>CAT p.D451H MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 451 endoplasmic reticulum 0 ATTTTTTCATCTTCCTTATTT 0.333 3 52 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48621171 48621171 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:48621171G>A uc003ctz.2 - 39 4322 c.4321C>T c.(4321-4323)CCT>TCT p.P1441S NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1441 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCTTTCCAGGGGGGCCAACG 0.577 9 73 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48621172 48621172 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:48621172G>A uc003ctz.2 - 39 4321 c.4320C>T c.(4318-4320)CCC>CCT p.P1440P NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1440 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTTTCCAGGGGGGCCAACGG 0.572 9 74 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64617583 64617583 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:64617583C>G uc003dmg.2 - 15 2226 c.2194G>C c.(2194-2196)GTT>CTT p.V732L ADAMTS9_uc011bfo.1_Missense_Mutation_p.V704L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V561L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.V732L NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 732 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GAGTTTAAAACATGATCGCAT 0.333 12 61 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97454854 97454854 + Nonsense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:97454854G>A uc010how.1 + 16 3063 c.3020G>A c.(3019-3021)TGG>TAG p.W1007* EPHA6_uc003drt.2_Nonsense_Mutation_p.W399*|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 912 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTCCACTGCTGGCAGAAGGAG 0.488 6 62 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97852280 97852280 + Missense_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:97852280T>A uc011bgt.1 + 1 739 c.739T>A c.(739-741)TCT>ACT p.S247T NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CCATCTCTTCTCTGTCTCTTT 0.408 8 160 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123367836 123367836 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:123367836A>G uc003ego.2 - 26 4679 c.4397T>C c.(4396-4398)ATT>ACT p.I1466T MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.I266T|MYLK_uc011bjw.1_Missense_Mutation_p.I1466T|MYLK_uc003egp.2_Missense_Mutation_p.I1397T|MYLK_uc003egq.2_Missense_Mutation_p.I1466T|MYLK_uc003egr.2_Missense_Mutation_p.I1397T|MYLK_uc003egs.2_Missense_Mutation_p.I1290T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1466 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTCTCCTCAATGTCGTAGAA 0.517 14 112 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123634171 123634171 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:123634171T>C uc011bjx.1 - 13 2408 c.2317A>G c.(2317-2319)AAT>GAT p.N773D CCDC14_uc003egv.3_Missense_Mutation_p.N414D|CCDC14_uc003egx.3_Missense_Mutation_p.N573D|CCDC14_uc010hrt.2_Missense_Mutation_p.N732D|CCDC14_uc003egy.3_Missense_Mutation_p.N573D|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 773 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TTATCCAAATTATGCTCATCT 0.403 33 179 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906083 164906083 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr3:164906083C>G uc003fej.3 - 2 2980 c.2536G>C c.(2536-2538)GTT>CTT p.V846L SLITRK3_uc003fek.2_Missense_Mutation_p.V846L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 846 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACTCCTGAAACCCCACCAACT 0.577 HNSCC(40;0.11) 3 129 --- --- --- --- PASS TLR1 7096 broad.mit.edu 37 4 38798666 38798666 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:38798666G>A uc003gtl.2 - 4 2061 c.1787C>T c.(1786-1788)ACT>ATT p.T596I NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 596 Helical; (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 GGAGGTCACAGTCACAGCCAA 0.532 13 82 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766515 88766515 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:88766515G>T uc003hqy.2 + 4 534 c.495G>T c.(493-495)GGG>GGT p.G165G MEPE_uc010ikn.2_Silent_p.G52G NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 165 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AACTCCTGGGGGAAGAAAACA 0.403 10 60 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104030059 104030059 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:104030059C>G uc003hxb.1 - 48 8002 c.7912G>C c.(7912-7914)GAA>CAA p.E2638Q CENPE_uc003hxc.1_Missense_Mutation_p.E2517Q NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2638 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTGGTGATTCCTTTGGCACA 0.393 13 120 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104068579 104068579 + Silent SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:104068579C>A uc003hxb.1 - 29 4158 c.4068G>T c.(4066-4068)ACG>ACT p.T1356T CENPE_uc003hxc.1_Silent_p.T1331T NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1356 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTTCTTTTATCGTTTTAAGGT 0.343 15 108 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122254094 122254094 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:122254094G>C uc010inj.1 - 4 1058 c.679C>G c.(679-681)CTT>GTT p.L227V QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.L227V NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 227 Helical; Name=5; (Potential). VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). plasma membrane neuropeptide Y receptor activity 0 ATCACCATAAGAGGCAGGAGG 0.423 10 91 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126372108 126372108 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:126372108A>G uc003ifj.3 + 9 9937 c.9937A>G c.(9937-9939)AAA>GAA p.K3313E FAT4_uc011cgp.1_Missense_Mutation_p.K1611E|FAT4_uc003ifi.1_Missense_Mutation_p.K791E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3313 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGCAGCTCCTAAAGGTACTAT 0.383 14 84 --- --- --- --- PASS CLGN 1047 broad.mit.edu 37 4 141320055 141320055 + Nonsense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:141320055C>T uc011chi.1 - 9 1052 c.834G>A c.(832-834)TGG>TGA p.W278* CLGN_uc003iii.2_Nonsense_Mutation_p.W278* NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 278 Lumenal (Potential).|1-1. protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) CTCTTTCATCCCATTCCTCAG 0.363 10 258 --- --- --- --- PASS ARHGAP10 79658 broad.mit.edu 37 4 148876465 148876465 + Splice_Site SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr4:148876465A>G uc003ilf.2 + 16 1392 c.1392_splice c.e16-2 p.R464_splice ARHGAP10_uc003ilg.2_Splice_Site_p.R113_splice|ARHGAP10_uc003ilh.2_Splice_Site_p.R45_splice NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CTTTTCACACAGGAGTCTTCC 0.328 21 411 --- --- --- --- PASS PDE4D 5144 broad.mit.edu 37 5 58285714 58285714 + Silent SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:58285714T>A uc003jsa.2 - 10 1492 c.1320A>T c.(1318-1320)CCA>CCT p.P440P PDE4D_uc003jrx.2_Silent_p.P304P|PDE4D_uc003jry.2_Silent_p.P138P|PDE4D_uc003jrz.2_Silent_p.P376P|PDE4D_uc003jsb.2_Silent_p.P379P|PDE4D_uc003jrt.2_Silent_p.P138P|PDE4D_uc003jru.2_Silent_p.P216P|PDE4D_uc003jrv.2_Silent_p.P310P|PDE4D_uc003jrw.2_Silent_p.P318P|PDE4D_uc003jrs.2_Silent_p.P149P NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 440 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AAGTATCTACTGGAATTTTAA 0.318 10 61 --- --- --- --- PASS TGFBI 7045 broad.mit.edu 37 5 135390435 135390435 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:135390435G>C uc003lbf.3 + 10 1456 c.1295G>C c.(1294-1296)AGG>ACG p.R432T TGFBI_uc003lbg.3_Missense_Mutation_p.R165T|TGFBI_uc003lbh.3_Missense_Mutation_p.R258T|TGFBI_uc011cyb.1_Missense_Mutation_p.R258T|TGFBI_uc010jed.2_Missense_Mutation_p.R165T NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 432 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCCATACAAGGAATTTGCTT 0.458 46 314 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140221414 140221414 + Missense_Mutation SNP T G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:140221414T>G uc003lhs.2 + 1 508 c.508T>G c.(508-510)TAC>GAC p.Y170D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.Y170D NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 170 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGTTAACCTACAGGCTTAG 0.443 8 99 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169507178 169507178 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:169507178G>A uc003maf.2 + 50 5258 c.5178G>A c.(5176-5178)AAG>AAA p.K1726K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.K1218K|DOCK2_uc003mah.2_Silent_p.K282K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1726 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTCCAGGAAGCATGAGTTCA 0.527 4 65 --- --- --- --- PASS BTNL8 79908 broad.mit.edu 37 5 180376262 180376262 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:180376262G>A uc003mmp.2 + 7 1093 c.859G>A c.(859-861)GCA>ACA p.A287T BTNL8_uc003mmq.2_Missense_Mutation_p.R330H|BTNL8_uc011dhg.1_Missense_Mutation_p.A162T|BTNL8_uc010jll.2_Missense_Mutation_p.R323H|BTNL8_uc010jlm.2_Missense_Mutation_p.A171T|BTNL8_uc011dhh.1_Missense_Mutation_p.A103T NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 287 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGGAAACACGCAGGTACCAA 0.557 10 31 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26505289 26505289 + Silent SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:26505289A>T uc003nif.3 + 3 584 c.564A>T c.(562-564)ACA>ACT p.T188T NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 188 Extracellular (Potential).|Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TTCCATCTACATCAGAGTCCA 0.488 6 75 --- --- --- --- PASS MUC21 394263 broad.mit.edu 37 6 30955950 30955950 + Silent SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:30955950C>T uc003nsh.2 + 3 1931 c.1680C>T c.(1678-1680)AGC>AGT p.S560S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 560 Cytoplasmic (Potential).|Cytoplasmic tail. integral to membrane|plasma membrane ovary(1)|skin(1) 2 TGGAGATGAGCGGGAGGAACA 0.597 6 39 --- --- --- --- PASS SKIV2L 6499 broad.mit.edu 37 6 31937189 31937189 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:31937189C>T uc003nyn.1 + 27 3921 c.3532C>T c.(3532-3534)CGG>TGG p.R1178W SKIV2L_uc011dou.1_Missense_Mutation_p.R1020W|SKIV2L_uc011dov.1_Missense_Mutation_p.R985W|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 1178 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TGAGTGGGCCCGGGGCATGGT 0.577 3 47 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754268 49754268 + Silent SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:49754268T>A uc003ozu.2 - 1 740 c.633A>T c.(631-633)ATA>ATT p.I211I NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 211 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CTCCACCAAGTATAGCCAGAA 0.428 12 159 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90571877 90571877 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:90571877A>G uc003pnr.2 + 7 645 c.449A>G c.(448-450)CAT>CGT p.H150R CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.H150R|CASP8AP2_uc011dzz.1_Missense_Mutation_p.H150R NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 150 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CGAAATAATCATAAAACTGCA 0.269 6 42 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116289818 116289818 + Nonsense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:116289818G>T uc003pwi.1 - 3 998 c.551C>A c.(550-552)TCA>TAA p.S184* NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 184 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GTTCAGTGTTGAAAAGATTCT 0.413 27 151 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130530728 130530728 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:130530728G>C uc003qbv.2 - 6 621 c.295C>G c.(295-297)CCA>GCA p.P99A SAMD3_uc003qbx.2_Missense_Mutation_p.P99A|SAMD3_uc003qbw.2_Missense_Mutation_p.P99A|SAMD3_uc010kfg.1_Missense_Mutation_p.P99A|SAMD3_uc003qby.2_Missense_Mutation_p.P99A|SAMD3_uc003qbz.1_Missense_Mutation_p.P58A NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 99 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGCCTGGCTGGACTGGAGGAC 0.468 12 69 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146625878 146625878 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:146625878C>G uc010khw.1 + 4 1552 c.1082C>G c.(1081-1083)ACT>AGT p.T361S GRM1_uc010khv.1_Missense_Mutation_p.T361S|GRM1_uc003qll.2_Missense_Mutation_p.T361S|GRM1_uc011edz.1_Missense_Mutation_p.T361S|GRM1_uc011eea.1_Missense_Mutation_p.T361S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 361 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGGCTGGACACTAACACGAGG 0.498 13 85 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165711504 165711504 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr6:165711504G>A uc003qum.3 - 5 1059 c.1023C>T c.(1021-1023)CTC>CTT p.L341L C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 341 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TGGCTGTCACGAGCATCCTCA 0.562 19 127 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6038907 6038907 + Splice_Site SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:6038907C>A uc003spl.2 - 6 625 c.538_splice c.e6-1 p.E180_splice PMS2_uc003spj.2_Splice_Site_p.E74_splice|PMS2_uc003spk.2_Splice_Site_p.E45_splice|PMS2_uc011jwl.1_Splice_Site_p.E45_splice|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Splice_Site_p.E180_splice|PMS2_uc010ktf.1_Splice_Site_p.E180_splice NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TGGCATACTCCTGTTTAAAAA 0.393 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 5 61 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48550793 48550793 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:48550793C>A uc003toq.2 + 51 13663 c.13638C>A c.(13636-13638)TTC>TTA p.F4546L ABCA13_uc010kys.1_Missense_Mutation_p.F1621L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.F276L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4546 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGTCACTTTTCGGGTATGTGA 0.483 3 67 --- --- --- --- PASS LANCL2 55915 broad.mit.edu 37 7 55493059 55493059 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:55493059G>A uc003tqp.2 + 7 1699 c.1121G>A c.(1120-1122)GGC>GAC p.G374D NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 374 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GCTGGCAACGGCTATTCCTTC 0.532 4 117 --- --- --- --- PASS POM121C 100101267 broad.mit.edu 37 7 75051114 75051114 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:75051114G>A uc003udk.3 - 13 3306 c.2421C>T c.(2419-2421)ACC>ACT p.T807T NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 1049 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 AGCCGGAGCTGGTGGCTGCAC 0.647 6 87 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81714198 81714198 + Missense_Mutation SNP T G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:81714198T>G uc003uhr.1 - 7 801 c.545A>C c.(544-546)GAA>GCA p.E182A NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 182 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) CCAGTTGAGTTCATTTAACAC 0.328 9 74 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86415818 86415818 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:86415818G>C uc003uid.2 + 3 1809 c.710G>C c.(709-711)CGC>CCC p.R237P GRM3_uc010lef.2_Missense_Mutation_p.R235P|GRM3_uc010leg.2_Missense_Mutation_p.R109P|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 237 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCCCGCCTGCGCAACATCTGC 0.607 8 61 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87072693 87072693 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:87072693C>T uc003uiv.1 - 12 1374 c.1298G>A c.(1297-1299)TGT>TAT p.C433Y ABCB4_uc003uiw.1_Missense_Mutation_p.C433Y|ABCB4_uc003uix.1_Missense_Mutation_p.C433Y NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 433 ABC transporter 1.|Cytoplasmic (By similarity).|ATP 1 (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCTCTTCCCACAGCCACTACT 0.517 43 183 --- --- --- --- PASS BET1 10282 broad.mit.edu 37 7 93623548 93623548 + Silent SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:93623548C>A uc003unf.1 - 4 513 c.351G>T c.(349-351)CTG>CTT p.L117L BET1_uc003une.3_Intron NM_005868 NP_005859 O15155 BET1_HUMAN blocked early in transport 1 117 Vesicular (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding 0 all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218) Breast(660;0.000162)|Ovarian(593;0.000626) STAD - Stomach adenocarcinoma(171;0.000967) TGCATCACCTCAGTTTAATAA 0.328 7 37 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107692543 107692543 + Silent SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:107692543C>T uc010ljo.1 - 26 3999 c.3915G>A c.(3913-3915)GCG>GCA p.A1305A LAMB4_uc003vey.2_Silent_p.A1305A|LAMB4_uc010ljp.1_Silent_p.A274A NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1305 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTCCCTTACCCGCAATGCTTG 0.408 25 123 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122759214 122759214 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr7:122759214G>C uc003vkm.2 - 13 1458 c.1433C>G c.(1432-1434)TCT>TGT p.S478C SLC13A1_uc010lks.2_Missense_Mutation_p.S354C NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 478 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CACCATCAAAGAAGATATCAG 0.373 18 75 --- --- --- --- PASS DUSP4 1846 broad.mit.edu 37 8 29194783 29194783 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr8:29194783G>T uc003xhm.2 - 4 1335 c.945C>A c.(943-945)AGC>AGA p.S315R DUSP4_uc003xhl.2_Missense_Mutation_p.S224R NM_001394 NP_001385 Q13115 DUS4_HUMAN dual specificity phosphatase 4 isoform 1 315 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity p.S315S(1) lung(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GCGAGATGATGCTGCGGCGCT 0.637 3 63 --- --- --- --- PASS ZBTB10 65986 broad.mit.edu 37 8 81412419 81412419 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr8:81412419A>G uc003ybx.3 + 2 2261 c.1663A>G c.(1663-1665)ACA>GCA p.T555A ZBTB10_uc003ybv.3_Missense_Mutation_p.T263A|ZBTB10_uc003ybw.3_Missense_Mutation_p.T555A|ZBTB10_uc010lzt.2_Missense_Mutation_p.T555A NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 555 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) TGAAGGTCAAACAAAAGTGTT 0.368 3 29 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106815541 106815541 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr8:106815541G>T uc003ymd.2 + 8 3254 c.3231G>T c.(3229-3231)TCG>TCT p.S1077S ZFPM2_uc011lhs.1_Silent_p.S808S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 1077 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AATCTCCCTCGTGGATCTCTG 0.478 7 36 --- --- --- --- PASS LRRC14 9684 broad.mit.edu 37 8 145745252 145745252 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr8:145745252G>A uc003zdk.1 + 2 289 c.143G>A c.(142-144)CGC>CAC p.R48H RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R48H|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 48 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTGGTACTGCGCGAGTTGGTA 0.637 14 97 --- --- --- --- PASS OR13F1 138805 broad.mit.edu 37 9 107266678 107266678 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr9:107266678G>T uc011lvm.1 + 1 135 c.135G>T c.(133-135)CTG>CTT p.L45L NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 ACATTTTTCTGATCTCCATCA 0.468 22 132 --- --- --- --- PASS OBP2B 29989 broad.mit.edu 37 9 136081733 136081733 + Silent SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr9:136081733C>T uc004ccz.2 - 5 501 c.459G>A c.(457-459)TCG>TCA p.S153S OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Silent_p.S85S NM_014581 NP_055396 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B precursor 153 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TGTCCTCCTCCGAGAGTCCCT 0.582 7 90 --- --- --- --- PASS NDOR1 27158 broad.mit.edu 37 9 140110455 140110455 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr9:140110455T>C uc004clw.2 + 12 1651 c.1540T>C c.(1540-1542)TTC>CTC p.F514L NDOR1_uc004clx.2_Missense_Mutation_p.F514L|NDOR1_uc011mes.1_Missense_Mutation_p.F507L|NDOR1_uc004cly.2_Missense_Mutation_p.F480L NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 514 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CATCCCTGCCTTCTCCCGGGA 0.617 7 131 --- --- --- --- PASS CALML5 51806 broad.mit.edu 37 10 5541037 5541037 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:5541037A>G uc001iic.2 - 1 497 c.365T>C c.(364-366)ATG>ACG p.M122T NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN calmodulin-like 5 122 EF-hand 4. epidermis development|signal transduction calcium ion binding|protein binding 0 CTCGCGGATCATGGCGTCCAG 0.711 7 18 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32320185 32320185 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:32320185T>C uc001iwe.3 - 14 1867 c.1397A>G c.(1396-1398)GAT>GGT p.D466G NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 466 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) ATTGTCTTGATCCCTTCTGGT 0.383 3 37 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55626456 55626456 + Silent SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:55626456T>C uc001jju.1 - 27 4058 c.3663A>G c.(3661-3663)CAA>CAG p.Q1221Q PCDH15_uc010qhq.1_Silent_p.Q1226Q|PCDH15_uc010qhr.1_Silent_p.Q1221Q|PCDH15_uc010qhs.1_Silent_p.Q1233Q|PCDH15_uc010qht.1_Silent_p.Q1228Q|PCDH15_uc010qhu.1_Silent_p.Q1221Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.Q1221Q|PCDH15_uc010qhw.1_Silent_p.Q1184Q|PCDH15_uc010qhx.1_Silent_p.Q1150Q|PCDH15_uc010qhy.1_Silent_p.Q1226Q|PCDH15_uc010qhz.1_Silent_p.Q1221Q|PCDH15_uc010qia.1_Silent_p.Q1199Q|PCDH15_uc010qib.1_Silent_p.Q1199Q NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1221 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTGCAATAACTTGAAACTTGA 0.408 HNSCC(58;0.16) 3 66 --- --- --- --- PASS C10orf35 219738 broad.mit.edu 37 10 71392747 71392747 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:71392747A>G uc001jpq.3 + 4 468 c.298A>G c.(298-300)ATG>GTG p.M100V NM_145306 NP_660349 Q96D05 CJ035_HUMAN hypothetical protein LOC219738 100 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 CCTGCTCATGATGCTTGGTGT 0.592 15 124 --- --- --- --- PASS HTR7 3363 broad.mit.edu 37 10 92508999 92508999 + Nonsense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:92508999C>A uc001kha.2 - 2 1135 c.892G>T c.(892-894)GAG>TAG p.E298* HTR7_uc001kgz.2_Nonsense_Mutation_p.E298*|HTR7_uc001khb.2_Nonsense_Mutation_p.E298* NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 298 Cytoplasmic (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCTTCCACCTCCTTCTGGAGC 0.527 7 52 --- --- --- --- PASS HTR7 3363 broad.mit.edu 37 10 92509000 92509000 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:92509000C>A uc001kha.2 - 2 1134 c.891G>T c.(889-891)AAG>AAT p.K297N HTR7_uc001kgz.2_Missense_Mutation_p.K297N|HTR7_uc001khb.2_Missense_Mutation_p.K297N NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 297 Cytoplasmic (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CTTCCACCTCCTTCTGGAGCT 0.527 7 51 --- --- --- --- PASS TNKS2 80351 broad.mit.edu 37 10 93600414 93600414 + Missense_Mutation SNP G T T rs143595087 TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:93600414G>T uc001khp.2 + 14 1921 c.1624G>T c.(1624-1626)GTG>TTG p.V542L NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 542 ANK 10. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AGTGTCCGTGGTGGAATATCT 0.433 21 101 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115961240 115961240 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:115961240G>T uc001lbg.1 + 5 754 c.601G>T c.(601-603)GCA>TCA p.A201S TDRD1_uc001lbf.2_Missense_Mutation_p.A192S|TDRD1_uc001lbh.1_Missense_Mutation_p.A192S|TDRD1_uc001lbi.1_Missense_Mutation_p.A192S|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 201 MYND-type. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AGACTGGTCTGCACACAGCAT 0.428 12 116 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124396774 124396774 + Silent SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:124396774G>C uc001lgk.1 + 51 6607 c.6501G>C c.(6499-6501)ACG>ACC p.T2167T DMBT1_uc001lgl.1_Silent_p.T2157T|DMBT1_uc001lgm.1_Silent_p.T1539T|DMBT1_uc009xzz.1_Silent_p.T2166T|DMBT1_uc010qtx.1_Silent_p.T887T|DMBT1_uc009yab.1_Silent_p.T870T|DMBT1_uc009yac.1_Silent_p.T461T NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2167 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCAGATAACGCCGAACCTGG 0.527 8 47 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134910554 134910554 + Missense_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:134910554T>A uc001llx.3 + 3 516 c.80T>A c.(79-81)GTC>GAC p.V27D GPR123_uc001llw.2_Missense_Mutation_p.V747D NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 27 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGCACGGCCGTCATGCTGCTC 0.622 8 56 --- --- --- --- PASS ADAM8 101 broad.mit.edu 37 10 135086034 135086034 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr10:135086034C>G uc010qva.1 - 8 695 c.644G>C c.(643-645)AGT>ACT p.S215T ADAM8_uc010quz.1_Missense_Mutation_p.S254T|ADAM8_uc009ybi.2_Missense_Mutation_p.S254T|ADAM8_uc010qvb.1_Missense_Mutation_p.S229T|ADAM8_uc009ybj.1_RNA P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 215 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CCTGTCCTGACTATTCCAAAT 0.607 6 69 --- --- --- --- PASS OSBPL5 114879 broad.mit.edu 37 11 3114761 3114761 + Nonsense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:3114761C>A uc001lxk.2 - 17 2100 c.1942G>T c.(1942-1944)GAG>TAG p.E648* OSBPL5_uc010qxq.1_Nonsense_Mutation_p.E559*|OSBPL5_uc009ydw.2_Nonsense_Mutation_p.E580*|OSBPL5_uc001lxl.2_Nonsense_Mutation_p.E580*|OSBPL5_uc009ydx.2_Nonsense_Mutation_p.E672*|OSBPL5_uc001lxj.2_Nonsense_Mutation_p.E102* NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 648 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCTCACCTCTCGGACTCCAGC 0.667 15 93 --- --- --- --- PASS OR51F1 256892 broad.mit.edu 37 11 4790235 4790235 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:4790235T>C uc010qyl.1 - 1 913 c.913A>G c.(913-915)ATG>GTG p.M305V NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 305 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGACTGAGCATAGCCTTGCGG 0.418 10 66 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903293 4903293 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:4903293G>A uc010qyp.1 + 1 245 c.245G>A c.(244-246)CGG>CAG p.R82Q NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTACTAAGCGGAGACTCCAC 0.473 11 136 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080470 5080470 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:5080470T>C uc010qyw.1 - 1 388 c.388A>G c.(388-390)AAT>GAT p.N130D NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGAGTGGATTGCAGATGGCC 0.453 5 38 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17332477 17332477 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:17332477G>A uc001mmw.2 + 7 834 c.589G>A c.(589-591)GAA>AAA p.E197K NUCB2_uc001mms.1_Missense_Mutation_p.E198K|NUCB2_uc001mmt.1_Missense_Mutation_p.E197K|NUCB2_uc001mmv.1_Missense_Mutation_p.E197K|NUCB2_uc009ygz.2_Missense_Mutation_p.E197K NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 197 By similarity. cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 AACATTGAATGAAGAAAAGAG 0.303 18 139 --- --- --- --- PASS UEVLD 55293 broad.mit.edu 37 11 18566213 18566213 + Silent SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:18566213T>A uc001mot.2 - 9 1097 c.1017A>T c.(1015-1017)TCA>TCT p.S339S UEVLD_uc001mou.2_Silent_p.S339S|UEVLD_uc010rde.1_Silent_p.S209S|UEVLD_uc010rdf.1_Silent_p.S317S|UEVLD_uc010rdg.1_Silent_p.S209S|UEVLD_uc001mov.2_Silent_p.S317S NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 339 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 CTTCTTTGCCTGAAGTCTGTG 0.303 16 132 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32439176 32439176 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:32439176G>T uc001mtn.1 - 4 1093 c.897C>A c.(895-897)TCC>TCA p.S299S WT1_uc001mtl.1_Silent_p.S87S|WT1_uc001mtm.1_Silent_p.S87S|WT1_uc001mto.1_Silent_p.S299S|WT1_uc001mtp.1_Silent_p.S299S|WT1_uc001mtq.1_Silent_p.S299S|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 231 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.D299Y(1)|p.D299fs*20(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) ATTCAAGCTGGGATGTCATTT 0.373 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 10 56 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310501 56310501 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:56310501G>T uc010rjl.1 - 1 233 c.233C>A c.(232-234)ACC>AAC p.T78N NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 78 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATCTGCGGGGTTGCATTTGA 0.423 17 112 --- --- --- --- PASS FTH1 2495 broad.mit.edu 37 11 61732988 61732988 + Splice_Site SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:61732988C>G uc001nsu.2 - 2 350 c.115_splice c.e2-1 p.S39_splice NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) AGTAGTAAGACTGAAAGGGGA 0.473 15 120 --- --- --- --- PASS ATL3 25923 broad.mit.edu 37 11 63426637 63426637 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:63426637G>A uc001nxk.1 - 2 410 c.134C>T c.(133-135)GCC>GTC p.A45V ATL3_uc010rms.1_Missense_Mutation_p.A27V|ATL3_uc001nxl.1_Missense_Mutation_p.A97V NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN atlastin 3 45 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding pancreas(1) 1 GCTGGCCAAGGCTTTCTCATC 0.498 9 96 --- --- --- --- PASS RCOR2 283248 broad.mit.edu 37 11 63681598 63681598 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:63681598T>C uc001nyc.2 - 8 1107 c.719A>G c.(718-720)AAA>AGA p.K240R NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN REST corepressor 2 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1)|skin(1) 2 GACCTCCTTTTTCCCAGGGCC 0.637 20 99 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89531714 89531714 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:89531714G>T uc001pdb.2 - 8 1272 c.943C>A c.(943-945)CAT>AAT p.H315N NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 315 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACATCTTGATGGTCACATCCA 0.388 5 37 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89531715 89531715 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:89531715G>T uc001pdb.2 - 8 1271 c.942C>A c.(940-942)GAC>GAA p.D314E NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 314 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CATCTTGATGGTCACATCCAA 0.383 5 36 --- --- --- --- PASS MMP1 4312 broad.mit.edu 37 11 102667499 102667499 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:102667499A>G uc001phi.2 - 4 664 c.521T>C c.(520-522)TTT>TCT p.F174S uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.F108S NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 174 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AGGTCCATCAAAAGGAGAGTT 0.423 6 57 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676137 123676137 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:123676137G>T uc010rzz.1 - 1 921 c.921C>A c.(919-921)ACC>ACA p.T307T NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 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;0.028) TTTGTATCAAGGTCATGATTC 0.308 15 110 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900741 123900741 + Missense_Mutation SNP C T T rs149526223 TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr11:123900741C>T uc001pzp.1 + 1 412 c.412C>T c.(412-414)CGC>TGC p.R138C NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GATGACTGGGCGCTCGTGTAC 0.562 21 135 --- --- --- --- PASS HSN2 378465 broad.mit.edu 37 12 977837 977837 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:977837G>T uc001qiq.2 + 1 968 c.842G>T c.(841-843)GGT>GTT p.G281V WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_213655 NP_998820 hereditary sensory neuropathy, type II 0 all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178) GGAGAAGGAGGTGGAATTTTA 0.448 5 50 --- --- --- --- PASS LRTM2 654429 broad.mit.edu 37 12 1943683 1943683 + Silent SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:1943683C>T uc001qjt.2 + 5 1715 c.909C>T c.(907-909)AGC>AGT p.S303S CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.S303S|LRTM2_uc010sdx.1_Silent_p.S303S|LRTM2_uc001qjv.2_Silent_p.S65S NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 303 Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GGCCGGCGAGCGTGAGGCGAG 0.677 12 57 --- --- --- --- PASS CLECL1 160365 broad.mit.edu 37 12 9885651 9885651 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:9885651G>A uc001qwj.2 - 1 210 c.210C>T c.(208-210)GTC>GTT p.V70V NM_172004 NP_742001 Q8IZS7 CLCL1_HUMAN type II transmembrane protein DCAL1 70 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane|plasma membrane sugar binding 0 AGAGAGAGAAGACCACAAATG 0.438 17 84 --- --- --- --- PASS STYK1 55359 broad.mit.edu 37 12 10780269 10780269 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:10780269G>C uc001qys.2 - 7 1209 c.688C>G c.(688-690)CAC>GAC p.H230D NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 230 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 TTTCCGATGTGATATACTTGT 0.403 HNSCC(73;0.22) 6 78 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20769197 20769197 + Silent SNP A C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:20769197A>C uc001reh.1 + 4 1325 c.1303A>C c.(1303-1305)AGA>CGA p.R435R NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 435 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGCTTGTTGAGACGAGTTTC 0.468 5 132 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43925895 43925895 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:43925895T>C uc010skx.1 - 3 557 c.557A>G c.(556-558)TAC>TGC p.Y186C NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 186 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTCTTGTCTGTATATAAGATG 0.353 6 67 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45567091 45567091 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:45567091G>A uc001rom.1 - 3 1595 c.1058C>T c.(1057-1059)GCG>GTG p.A353V PLEKHA9_uc009zke.2_Missense_Mutation_p.A353V NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TACGGTTAACGCGGCCACAAA 0.502 5 86 --- --- --- --- PASS USP15 9958 broad.mit.edu 37 12 62786902 62786902 + Silent SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:62786902A>T uc001src.1 + 19 2499 c.2490A>T c.(2488-2490)GTA>GTT p.V830V USP15_uc001srb.1_Silent_p.V801V NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 830 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TGCCTCCAGTACTTGTAGTAC 0.353 13 84 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400700 78400700 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:78400700C>T uc001syp.2 + 8 1555 c.1382C>T c.(1381-1383)TCT>TTT p.S461F NAV3_uc001syo.2_Missense_Mutation_p.S461F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 461 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AATAAAAAGTCTTTGCTACAG 0.413 HNSCC(70;0.22) 7 87 --- --- --- --- PASS TPCN1 53373 broad.mit.edu 37 12 113706674 113706674 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:113706674G>A uc001tuw.2 + 6 953 c.656G>A c.(655-657)CGG>CAG p.R219Q TPCN1_uc001tux.2_Missense_Mutation_p.R291Q|TPCN1_uc010syt.1_Missense_Mutation_p.R151Q NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 219 Helical; Name=S4 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 GGTGGCGTCCGGCGGTAAGGC 0.627 9 59 --- --- --- --- PASS FZD10 11211 broad.mit.edu 37 12 130648774 130648774 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:130648774G>A uc001uii.2 + 1 1743 c.1287G>A c.(1285-1287)ACG>ACA p.T429T uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 429 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TGATGAAGACGGGCGGCGAGA 0.612 6 61 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133201572 133201572 + Silent SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr12:133201572C>G uc001uks.1 - 48 6710 c.6666G>C c.(6664-6666)CTG>CTC p.L2222L POLE_uc001ukq.1_Silent_p.L432L|POLE_uc001ukr.1_Silent_p.L1026L|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2222 C4-type (Potential). base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CGCGGCACTTCAGGCAGACCT 0.657 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 42 --- --- --- --- PASS RNF17 56163 broad.mit.edu 37 13 25442751 25442751 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr13:25442751C>G uc001upr.2 + 31 4216 c.4175C>G c.(4174-4176)GCT>GGT p.A1392G RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A1388G|RNF17_uc001ups.2_Missense_Mutation_p.A1331G|RNF17_uc010aac.2_Missense_Mutation_p.A584G|RNF17_uc010aad.2_Missense_Mutation_p.A402G NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1392 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTGCTTTCGGCTGAAACAGAC 0.363 13 104 --- --- --- --- PASS FAM123A 219287 broad.mit.edu 37 13 25745075 25745075 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr13:25745075C>A uc001uqb.2 - 1 783 c.683G>T c.(682-684)GGC>GTC p.G228V FAM123A_uc001uqa.2_Missense_Mutation_p.G228V|FAM123A_uc001uqc.2_Missense_Mutation_p.G228V NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 228 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGTGAGCGAGCCGGGTAGGAT 0.597 3 8 --- --- --- --- PASS ZIC5 85416 broad.mit.edu 37 13 100617671 100617671 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr13:100617671T>C uc001vom.1 - 2 2201 c.1952A>G c.(1951-1953)GAA>GGA p.E651G NM_033132 NP_149123 Q96T25 ZIC5_HUMAN zinc finger protein of the cerebellum 5 651 cell differentiation nucleus DNA binding|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCCGTAAATTTCCTCATCTTC 0.468 18 119 --- --- --- --- PASS OR4K2 390431 broad.mit.edu 37 14 20345270 20345270 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:20345270C>A uc001vwh.1 + 1 844 c.844C>A c.(844-846)CTG>ATG p.L282M NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTCCCACTCTGAACCCAAT 0.373 5 166 --- --- --- --- PASS RNASE11 122651 broad.mit.edu 37 14 21052471 21052471 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:21052471G>A uc010ahv.2 - 2 348 c.163C>T c.(163-165)CCG>TCG p.P55S RNASE11_uc010ahx.2_Missense_Mutation_p.P55S|RNASE11_uc010ahw.2_Missense_Mutation_p.P55S|RNASE11_uc001vxs.2_Missense_Mutation_p.P55S NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 55 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) AACAGGATCGGGTTCATTAAT 0.368 27 243 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291766 33291766 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:33291766T>C uc001wrq.2 + 13 4917 c.4747T>C c.(4747-4749)TTT>CTT p.F1583L NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1583 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATTGGGCATCTTTAAAAATGG 0.428 21 127 --- --- --- --- PASS DACT1 51339 broad.mit.edu 37 14 59113810 59113810 + Silent SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:59113810C>G uc001xdw.2 + 4 2633 c.2469C>G c.(2467-2469)CTC>CTG p.L823L DACT1_uc010trv.1_Silent_p.L542L|DACT1_uc001xdx.2_Silent_p.L786L|DACT1_uc010trw.1_Silent_p.L542L NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 823 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 AGAAGATCCTCCGCTTTCGGT 0.453 28 175 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60212638 60212638 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:60212638G>A uc001xen.1 - 2 1012 c.803C>T c.(802-804)TCT>TTT p.S268F NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 268 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTGTTCTTCAGAGAGATCATC 0.473 9 155 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71575553 71575553 + Silent SNP A C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:71575553A>C uc001xmo.2 + 34 6980 c.6534A>C c.(6532-6534)TCA>TCC p.S2178S PCNX_uc010are.1_Silent_p.S2067S|PCNX_uc010arf.1_Silent_p.S966S|PCNX_uc001xmp.2_Silent_p.S262S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2178 Ser-rich. integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGGAACCCTCAGGTCAGAGCG 0.562 5 69 --- --- --- --- PASS HEATR4 399671 broad.mit.edu 37 14 73989131 73989131 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:73989131G>T uc010tub.1 - 3 1048 c.726C>A c.(724-726)GAC>GAA p.D242E HEATR4_uc010tua.1_Missense_Mutation_p.D195E NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TGTGACTCCAGTCGTACTGCT 0.577 14 81 --- --- --- --- PASS TTC7B 145567 broad.mit.edu 37 14 91252596 91252596 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:91252596G>A uc001xyp.2 - 2 320 c.198C>T c.(196-198)GCC>GCT p.A66A NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 66 binding ovary(2) 2 Melanoma(154;0.222) CTCGGGGACTGGCCCCCTGCC 0.602 16 69 --- --- --- --- PASS SERPINA6 866 broad.mit.edu 37 14 94780437 94780437 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:94780437G>A uc001ycv.2 - 2 653 c.549C>T c.(547-549)GTC>GTT p.V183V SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 183 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) AAAACAAGTCGACAATTTTCC 0.488 4 114 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95669821 95669821 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:95669821G>A uc001yef.2 - 9 1981 c.1865C>T c.(1864-1866)CCT>CTT p.P622L NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 622 integral to membrane actin binding 0 Epithelial(152;0.193) CTTAACTTGAGGCTCTGGCGA 0.448 5 77 --- --- --- --- PASS INF2 64423 broad.mit.edu 37 14 105175017 105175017 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:105175017C>A uc001ypb.2 + 10 2040 c.1897C>A c.(1897-1899)CTC>ATC p.L633I INF2_uc010tyi.1_Missense_Mutation_p.L633I|INF2_uc001ypc.2_Missense_Mutation_p.L633I|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 633 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GATCACTTTCCTCGATGCCAA 0.622 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 173 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106641689 106641689 + RNA SNP A C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr14:106641689A>C uc010tyt.1 - 1021 c.24312T>G Parts of antibodies, mostly variable regions. 0 AGTTTGTGTTACCATTGTAAG 0.542 7 231 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921331 24921331 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr15:24921331C>T uc001ywo.2 + 1 791 c.317C>T c.(316-318)CCG>CTG p.P106L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 106 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CGGAACCCCCCGAGGTTTGGA 0.677 3 60 --- --- --- --- PASS C15orf41 84529 broad.mit.edu 37 15 36989572 36989572 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr15:36989572G>T uc001zje.3 + 8 775 c.525G>T c.(523-525)GAG>GAT p.E175D C15orf41_uc001zjd.2_Missense_Mutation_p.E175D|C15orf41_uc010bbb.1_Missense_Mutation_p.E77D|C15orf41_uc001zjf.2_Missense_Mutation_p.E77D|C15orf41_uc010uci.1_Missense_Mutation_p.E77D NM_001130010 NP_001123482 Q9Y2V0 CO041_HUMAN hypothetical protein LOC84529 isoform 1 175 protein binding pancreas(1) 1 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) TGCTTCTAGAGAAAAACCTGT 0.408 10 162 --- --- --- --- PASS TMOD3 29766 broad.mit.edu 37 15 52155121 52155121 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr15:52155121G>C uc002abm.2 + 2 259 c.40G>C c.(40-42)GAC>CAC p.D14H NM_014547 NP_055362 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 14 cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 all cancers(107;0.00194) AAAGTACAAAGACCTTGATGA 0.443 6 76 --- --- --- --- PASS CHRNA3 1136 broad.mit.edu 37 15 78894314 78894314 + Missense_Mutation SNP A C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr15:78894314A>C uc002bec.2 - 5 856 c.670T>G c.(670-672)TGC>GGC p.C224G CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.C224G NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 224 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 ATCTCCTCGCAGCAGTTGTAC 0.547 4 50 --- --- --- --- PASS TMEM8A 58986 broad.mit.edu 37 16 424040 424040 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:424040G>A uc002cgu.3 - 11 1996 c.1867C>T c.(1867-1869)CTG>TTG p.L623L TMEM8A_uc002cgv.3_Silent_p.L430L NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 623 Helical; (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 GCCATGCACAGGATGGTGACC 0.662 OREG0003702 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 21 --- --- --- --- PASS TSC2 7249 broad.mit.edu 37 16 2129610 2129610 + Nonsense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:2129610G>T uc002con.2 + 29 3443 c.3337G>T c.(3337-3339)GAG>TAG p.E1113* TSC2_uc010bsd.2_Nonsense_Mutation_p.E1113*|TSC2_uc002coo.2_Nonsense_Mutation_p.E1069*|TSC2_uc010uvv.1_Nonsense_Mutation_p.E1033*|TSC2_uc010uvw.1_Nonsense_Mutation_p.E1021*|TSC2_uc002cop.2_Nonsense_Mutation_p.E869* NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1113 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GGCCAAGCTGGAGTCCCAGGC 0.682 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 4 16 --- --- --- --- PASS ADCY9 115 broad.mit.edu 37 16 4016686 4016686 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:4016686G>C uc002cvx.2 - 11 3691 c.3152C>G c.(3151-3153)TCC>TGC p.S1051C NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1051 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 ATGGTTCTTGGAGTAGGTCTG 0.592 38 171 --- --- --- --- PASS ZP2 7783 broad.mit.edu 37 16 21211169 21211169 + Silent SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:21211169G>C uc002dii.2 - 15 1725 c.1725C>G c.(1723-1725)ACC>ACG p.T575T ZP2_uc010bwn.1_Silent_p.T605T NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 575 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) GATGGAAGGTGGTCTGGTAGT 0.498 8 111 --- --- --- --- PASS IL21R 50615 broad.mit.edu 37 16 27448887 27448887 + Silent SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:27448887C>A uc002doq.1 + 4 464 c.231C>A c.(229-231)GCC>GCA p.A77A IL21R_uc002dor.1_Silent_p.A77A|IL21R_uc002dos.1_Silent_p.A77A NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 77 Extracellular (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CCACGCATGCCACCTACACCT 0.557 T BCL6 NHL 8 58 --- --- --- --- PASS C16orf86 388284 broad.mit.edu 37 16 67702132 67702132 + Nonsense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:67702132C>T uc002ety.2 + 4 740 c.583C>T c.(583-585)CAG>TAG p.Q195* C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.2_RNA NM_001012984 NP_001013002 Q6ZW13 CP086_HUMAN hypothetical protein LOC388284 195 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCCGCTGTACCAGTACGTCAA 0.672 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 19 --- --- --- --- PASS HAS3 3038 broad.mit.edu 37 16 69143365 69143365 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:69143365G>T uc010cfh.2 + 2 291 c.67G>T c.(67-69)GGT>TGT p.G23C HAS3_uc002ewk.2_Missense_Mutation_p.G23C|HAS3_uc010vlk.1_Missense_Mutation_p.G23C|HAS3_uc002ewl.2_Missense_Mutation_p.G23C NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 23 Helical; Name=1; (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) GGCAGTGCTGGGTGGCATCCT 0.632 4 47 --- --- --- --- PASS CPNE7 27132 broad.mit.edu 37 16 89661838 89661838 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr16:89661838G>A uc002fnp.2 + 16 1721 c.1591G>A c.(1591-1593)GCC>ACC p.A531T CPNE7_uc002fnq.2_Missense_Mutation_p.A456T NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 531 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CACACGGGAGGCCATTGTGCG 0.627 4 42 --- --- --- --- PASS POLR2A 5430 broad.mit.edu 37 17 7402446 7402446 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:7402446G>A uc002ghf.3 + 9 1658 c.1424G>A c.(1423-1425)CGC>CAC p.R475H POLR2A_uc002ghe.2_Missense_Mutation_p.R475H NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 475 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CATCGGGTCCGCATTCTCCCA 0.562 4 139 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8047094 8047094 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:8047094G>A uc002gkd.2 - 19 2800 c.2562C>T c.(2560-2562)TGC>TGT p.C854C PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron NM_002616 NP_002607 O15534 PER1_HUMAN period 1 854 Pro-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GTGAGACATAGCAGGGCGCTT 0.697 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 6 38 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10351379 10351379 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:10351379G>A uc002gmn.2 - 34 4832 c.4721C>T c.(4720-4722)TCT>TTT p.S1574F uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1574 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTCAATCTCAGATTTCACCTG 0.383 18 80 --- --- --- --- PASS PIGL 9487 broad.mit.edu 37 17 16137283 16137283 + Splice_Site SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:16137283A>T uc002gpv.2 + 2 268 c.236_splice c.e2-2 p.G79_splice PIGL_uc010vwd.1_Splice_Site_p.G79_splice NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) TGTTACCCTCAGGAAATTACT 0.348 5 46 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27805292 27805292 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:27805292G>A uc002hdz.1 + 6 570 c.376G>A c.(376-378)GTG>ATG p.V126M TAOK1_uc010wbe.1_Missense_Mutation_p.V126M|TAOK1_uc010wbf.1_Missense_Mutation_p.V126M|TAOK1_uc002heb.1_5'Flank NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 126 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) ATTACAAGAAGTGGAAATAGC 0.289 13 95 --- --- --- --- PASS KRT35 3886 broad.mit.edu 37 17 39635146 39635146 + Nonsense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:39635146G>T uc002hws.2 - 4 856 c.813C>A c.(811-813)TGC>TGA p.C271* NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 271 Rod.|Coil 2. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) TTTCATACTGGCACCTCATCT 0.557 4 94 --- --- --- --- PASS DBF4B 80174 broad.mit.edu 37 17 42800348 42800348 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:42800348G>T uc002ihf.2 + 3 396 c.183G>T c.(181-183)AAG>AAT p.K61N DBF4B_uc002ihd.1_Missense_Mutation_p.K61N|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.K45N|DBF4B_uc002ihg.2_Missense_Mutation_p.K45N NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 61 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) CTGCTGGCAAGAATCTCCAGT 0.527 15 82 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74934111 74934111 + Missense_Mutation SNP G C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr17:74934111G>C uc002jti.2 + 11 1600 c.1497G>C c.(1495-1497)GAG>GAC p.E499D MGAT5B_uc002jth.2_Missense_Mutation_p.E488D NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 490 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 AATACATGGAGATCCATGGCA 0.552 5 71 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48581307 48581307 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr18:48581307C>A uc010xdp.1 + 5 1149 c.611C>A c.(610-612)TCT>TAT p.S204Y SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Missense_Mutation_p.S49Y NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 204 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(3) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTAGCCCCATCTGAGTCTAAT 0.468 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 10 116 --- --- --- --- PASS STK11 6794 broad.mit.edu 37 19 1218443 1218443 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:1218443G>A uc002lrl.1 + 2 1433 c.318G>A c.(316-318)CGG>CGA p.R106R NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 106 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.E98_G155del(3)|p.R106R(1)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGGTTACGGCACAAAAATG 0.552 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 4 189 --- --- --- --- PASS ZNF77 58492 broad.mit.edu 37 19 2936662 2936662 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:2936662C>A uc002lws.3 - 3 302 c.171G>T c.(169-171)CAG>CAT p.Q57H NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AAACGTCCCTCTGAGAACTTG 0.348 10 67 --- --- --- --- PASS FUT3 2525 broad.mit.edu 37 19 5844073 5844073 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:5844073G>T uc002mdk.2 - 2 875 c.778C>A c.(778-780)CTG>ATG p.L260M FUT3_uc002mdm.2_Missense_Mutation_p.L260M|FUT3_uc002mdj.2_Missense_Mutation_p.L260M|FUT3_uc002mdl.2_Missense_Mutation_p.L260M NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 260 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 TTCCTCCACAGCTTCTCGGTG 0.632 20 119 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8993440 8993440 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:8993440G>A uc002mkp.2 - 66 41853 c.41649C>T c.(41647-41649)AGC>AGT p.S13883S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S700S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13886 Extracellular (Potential).|SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGTCAGCTGGCTCAGCTCCA 0.592 8 146 --- --- --- --- PASS ICAM5 7087 broad.mit.edu 37 19 10403724 10403724 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:10403724G>A uc002mnu.3 + 6 1332 c.1267G>A c.(1267-1269)GAG>AAG p.E423K ICAM5_uc002mnv.3_Missense_Mutation_p.E298K NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 423 Extracellular (Potential).|Ig-like C2-type 5. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GACGTGGCCCGAGGGCCCAGA 0.692 9 67 --- --- --- --- PASS TMEM205 374882 broad.mit.edu 37 19 11453492 11453492 + Nonstop_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:11453492T>A uc002mrb.2 - 4 757 c.569A>T c.(568-570)TAG>TTG p.*190L TMEM205_uc002mra.2_Nonstop_Mutation_p.*190L|TMEM205_uc002mqz.2_Nonstop_Mutation_p.*190L|TMEM205_uc002mrc.2_Nonstop_Mutation_p.*190L NM_001145416 NP_001138888 Q6UW68 TM205_HUMAN transmembrane protein 205 190 integral to membrane 0 GGGCCCATGCTAGAGGCTCCT 0.542 23 157 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039443 31039443 + Missense_Mutation SNP T A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:31039443T>A uc002nsu.1 + 4 3055 c.2917T>A c.(2917-2919)TAT>AAT p.Y973N ZNF536_uc010edd.1_Missense_Mutation_p.Y973N NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 973 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GAAATCTCAGTATGAACCCCT 0.592 21 121 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039656 31039656 + Nonsense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:31039656C>T uc002nsu.1 + 4 3268 c.3130C>T c.(3130-3132)CAA>TAA p.Q1044* ZNF536_uc010edd.1_Nonsense_Mutation_p.Q1044* NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1044 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTGCAAAGACCAAGCCCGGGA 0.542 5 66 --- --- --- --- PASS LIN37 55957 broad.mit.edu 37 19 36245292 36245292 + Splice_Site SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:36245292A>T uc002obm.2 + 10 774 c.660_splice c.e10-2 p.R220_splice uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGCCTCCCCAGGTGGAAGGA 0.597 21 55 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36339628 36339628 + Missense_Mutation SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:36339628A>T uc002oby.2 - 9 1081 c.1081T>A c.(1081-1083)TGT>AGT p.C361S NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 361 Ig-like C2-type 4.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTGCTGACACAGGAGAGTGTC 0.577 9 92 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36350435 36350435 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:36350435C>A uc002ocb.3 + 5 787 c.575C>A c.(574-576)ACC>AAC p.T192N KIRREL2_uc002obz.3_Missense_Mutation_p.T192N|KIRREL2_uc002oca.3_Missense_Mutation_p.T142N|KIRREL2_uc002occ.3_Missense_Mutation_p.T139N|KIRREL2_uc002ocd.3_Missense_Mutation_p.T189N NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 192 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTAACCCTGACCCCTTTCAGC 0.542 12 112 --- --- --- --- PASS ZNF226 7769 broad.mit.edu 37 19 44680803 44680803 + Missense_Mutation SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:44680803A>G uc002oyp.2 + 6 1532 c.1388A>G c.(1387-1389)CAG>CGG p.Q463R ZNF226_uc002oyq.2_Missense_Mutation_p.Q346R|ZNF226_uc002oyr.2_Missense_Mutation_p.Q346R|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.Q463R|ZNF226_uc002oyt.2_Missense_Mutation_p.Q463R NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 463 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TCAAGTCTTCAGGCCCATCAG 0.433 3 89 --- --- --- --- PASS KLK12 43849 broad.mit.edu 37 19 51535168 51535168 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:51535168G>T uc002pvg.1 - 3 541 c.421C>A c.(421-423)CAC>AAC p.H141N KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.H141N|KLK12_uc002pvi.1_Missense_Mutation_p.H141N|KLK12_uc002pvj.1_Intron NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 141 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) CCTGAGACGTGGCACTCGGTG 0.677 18 136 --- --- --- --- PASS ZNF816A 125893 broad.mit.edu 37 19 53454512 53454512 + Silent SNP A G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr19:53454512A>G uc002qal.1 - 5 817 c.516T>C c.(514-516)ACT>ACC p.T172T ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T156T NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TTTTCCCTTTAGTCTGAAACA 0.403 23 167 --- --- --- --- PASS SIRPG 55423 broad.mit.edu 37 20 1616921 1616921 + Missense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr20:1616921G>A uc002wfm.1 - 3 726 c.661C>T c.(661-663)CGC>TGC p.R221C SIRPG_uc002wfn.1_Missense_Mutation_p.R221C|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 221 Extracellular (Potential).|Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 ACCTGAGAGCGAACGTCCCAG 0.617 4 114 --- --- --- --- PASS BFSP1 631 broad.mit.edu 37 20 17495386 17495386 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr20:17495386C>A uc002wpo.2 - 3 553 c.514G>T c.(514-516)GCA>TCA p.A172S BFSP1_uc002wpp.2_Missense_Mutation_p.A47S|BFSP1_uc010zrn.1_Missense_Mutation_p.A33S|BFSP1_uc010zro.1_Missense_Mutation_p.A33S NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 172 Rod.|Coil 1B. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 CTGTCCTTTGCCGCACTGATA 0.502 11 240 --- --- --- --- PASS BCL2L1 598 broad.mit.edu 37 20 30253775 30253775 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr20:30253775C>A uc002wwl.2 - 3 1045 c.679G>T c.(679-681)GGC>TGC p.G227C BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Missense_Mutation_p.G164C|BCL2L1_uc002wwn.2_Missense_Mutation_p.G227C NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 227 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) AAGAGTGAGCCCAGCAGAACC 0.602 11 70 --- --- --- --- PASS BCL2L1 598 broad.mit.edu 37 20 30253776 30253776 + Silent SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr20:30253776C>G uc002wwl.2 - 3 1044 c.678G>C c.(676-678)CTG>CTC p.L226L BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Silent_p.L163L|BCL2L1_uc002wwn.2_Silent_p.L226L NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 226 Helical; (Potential). induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) AGAGTGAGCCCAGCAGAACCA 0.602 10 71 --- --- --- --- PASS SEMG2 6407 broad.mit.edu 37 20 43850507 43850507 + Nonsense_Mutation SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr20:43850507G>A uc010ggz.2 + 2 291 c.234G>A c.(232-234)TGG>TGA p.W78* SEMG2_uc002xnk.2_Nonsense_Mutation_p.W78*|SEMG2_uc002xnl.2_Nonsense_Mutation_p.W78* NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 78 Repeat-rich region.|3-1. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) ATCATGACTGGACCCGAAAAA 0.373 6 75 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22712462 22712462 + RNA SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr22:22712462T>C uc011aim.1 + 41 c.4250T>C Parts of antibodies, mostly variable regions. 0 ACTCCTCATCTATAGTAATAA 0.562 4 188 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22712501 22712501 + RNA SNP T G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr22:22712501T>G uc011aim.1 + 41 c.4289T>G Parts of antibodies, mostly variable regions. 0 CCCTGACCGATTCTCTGGCTC 0.557 6 202 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30415501 30415501 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr22:30415501C>A uc003agv.3 + 17 2181 c.1853C>A c.(1852-1854)ACC>AAC p.T618N MTMR3_uc003agu.3_Missense_Mutation_p.T618N|MTMR3_uc003agw.3_Missense_Mutation_p.T618N NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 618 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GACAATCTGACCACAGCCTGT 0.532 3 86 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37333578 37333578 + Silent SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr22:37333578C>T uc003aqa.3 + 14 1945 c.1728C>T c.(1726-1728)GCC>GCT p.A576A CSF2RB_uc003aqc.3_Silent_p.A582A NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 576 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CGCCTGCCGCCTCCCACACAC 0.657 4 26 --- --- --- --- PASS KLHDC7B 113730 broad.mit.edu 37 22 50988132 50988132 + Missense_Mutation SNP A G G rs137863644 TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr22:50988132A>G uc003bmi.2 + 1 1671 c.1537A>G c.(1537-1539)ACA>GCA p.T513A NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 513 Kelch 5. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCGCTACAACACAGTGACCGG 0.697 3 57 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9863737 9863737 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:9863737C>G uc004csu.1 + 4 1879 c.1789C>G c.(1789-1791)CGG>GGG p.R597G NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 597 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GGGGAAGCGCCGGCCTGAGAG 0.682 2 9 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27999274 27999274 + Missense_Mutation SNP G T T rs139451923 byFrequency TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:27999274G>T uc004dbx.1 - 1 293 c.178C>A c.(178-180)CTG>ATG p.L60M NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 60 ovary(3)|skin(1) 4 GCATCGTTCAGGAAACCACCA 0.507 12 105 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32360339 32360339 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:32360339C>G uc004dda.1 - 41 6044 c.5800G>C c.(5800-5802)GAG>CAG p.E1934Q DMD_uc004dcw.2_Missense_Mutation_p.E590Q|DMD_uc004dcx.2_Missense_Mutation_p.E593Q|DMD_uc004dcz.2_Missense_Mutation_p.E1811Q|DMD_uc004dcy.1_Missense_Mutation_p.E1930Q|DMD_uc004ddb.1_Missense_Mutation_p.E1926Q|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1934 Spectrin 13. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GACAAGCCCTCAGCTTGCCTA 0.522 12 59 --- --- --- --- PASS SSX5 6758 broad.mit.edu 37 X 48047126 48047126 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:48047126C>G uc004dja.1 - 7 561 c.508G>C c.(508-510)GAG>CAG p.E170Q SSX5_uc004diz.1_Missense_Mutation_p.E211Q NM_175723 NP_783729 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 isoform b 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 TGCTTTCTCTCACGCACTCTG 0.498 29 468 --- --- --- --- PASS KCND1 3750 broad.mit.edu 37 X 48825921 48825921 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:48825921G>T uc004dlx.1 - 1 2331 c.758C>A c.(757-759)GCC>GAC p.A253D KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 253 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 ACGGCTGGGGGCGGCAAACAG 0.582 4 37 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50053412 50053412 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:50053412C>T uc004dox.3 + 6 2541 c.2243C>T c.(2242-2244)TCT>TTT p.S748F CCNB3_uc004doy.2_Missense_Mutation_p.S748F|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 748 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ACACAATTATCTTTAAAGAAG 0.418 4 29 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50133404 50133404 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:50133404C>A uc010njr.1 - 12 1908 c.1848G>T c.(1846-1848)TGG>TGT p.W616C NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 616 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) TCATCACACTCCATCTGAAAT 0.388 27 176 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50133405 50133405 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:50133405C>G uc010njr.1 - 12 1907 c.1847G>C c.(1846-1848)TGG>TCG p.W616S NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 616 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) CATCACACTCCATCTGAAATG 0.393 26 175 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50376730 50376730 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:50376730G>T uc004dpe.2 - 4 2369 c.2343C>A c.(2341-2343)AGC>AGA p.S781R SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S665R NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 781 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) ATAAGGATTTGCTACTCTCTT 0.433 17 135 --- --- --- --- PASS MAGED2 10916 broad.mit.edu 37 X 54838617 54838617 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:54838617G>T uc004dtk.1 + 7 1112 c.1018G>T c.(1018-1020)GAT>TAT p.D340Y MAGED2_uc004dtl.1_Missense_Mutation_p.D340Y|MAGED2_uc004dtm.1_Missense_Mutation_p.D255Y|MAGED2_uc010nkc.1_Missense_Mutation_p.D340Y|MAGED2_uc004dtn.1_Missense_Mutation_p.D340Y|MAGED2_uc004dto.1_Missense_Mutation_p.D314Y|SNORA11_uc004dtp.1_5'Flank NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 340 MAGE. ovary(2)|breast(1) 3 GAAGGAAATTGATAAGAATGA 0.498 6 70 --- --- --- --- PASS FOXR2 139628 broad.mit.edu 37 X 55650240 55650240 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:55650240G>A uc004duo.2 + 1 408 c.96G>A c.(94-96)CTG>CTA p.L32L NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 32 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 AGTTATTTCTGCCTTGTACCA 0.468 13 100 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63411933 63411933 + Missense_Mutation SNP T G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:63411933T>G uc004dvo.2 - 2 1507 c.1234A>C c.(1234-1236)ACT>CCT p.T412P NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 412 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 ATTTGGGCAGTTTCCCACAGA 0.333 6 118 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66765851 66765851 + Missense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:66765851C>A uc004dwu.1 + 1 1978 c.863C>A c.(862-864)GCC>GAC p.A288D AR_uc011mpd.1_Missense_Mutation_p.A288D|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A288D NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 286 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GCCCCATTGGCCGAATGCAAA 0.557 Androgen_Insensitivity_Syndrome 6 57 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963303 73963303 + Silent SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:73963303T>C uc004eby.2 - 3 1706 c.1089A>G c.(1087-1089)CAA>CAG p.Q363Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 363 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GGACCTTGAATTGGGAAAAAT 0.478 18 83 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79946652 79946652 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:79946652C>T uc004edt.2 - 31 3765 c.3502G>A c.(3502-3504)GTT>ATT p.V1168I BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.V764I|BRWD3_uc004edp.2_Missense_Mutation_p.V997I|BRWD3_uc004edq.2_Missense_Mutation_p.V764I|BRWD3_uc010nmj.1_Missense_Mutation_p.V764I|BRWD3_uc004edr.2_Missense_Mutation_p.V838I|BRWD3_uc004eds.2_Missense_Mutation_p.V764I|BRWD3_uc004edu.2_Missense_Mutation_p.V838I|BRWD3_uc004edv.2_Missense_Mutation_p.V764I|BRWD3_uc004edw.2_Missense_Mutation_p.V764I|BRWD3_uc004edx.2_Missense_Mutation_p.V764I|BRWD3_uc004edy.2_Missense_Mutation_p.V764I|BRWD3_uc004edz.2_Missense_Mutation_p.V838I|BRWD3_uc004eea.2_Missense_Mutation_p.V838I|BRWD3_uc004eeb.2_Missense_Mutation_p.V764I NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1168 Bromo 1. ovary(4) 4 TCCACTGGAACAGCAAAAGGG 0.368 10 59 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83724491 83724491 + Silent SNP G A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:83724491G>A uc004eek.1 - 3 349 c.240C>T c.(238-240)ATC>ATT p.I80I HDX_uc011mqv.1_Silent_p.I80I|HDX_uc004eel.1_Silent_p.I22I NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TTCTGACTGTGATGTCTGGAG 0.438 14 56 --- --- --- --- PASS BHLHB9 80823 broad.mit.edu 37 X 102004380 102004380 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:102004380C>G uc010nog.2 + 4 1028 c.457C>G c.(457-459)CCT>GCT p.P153A BHLHB9_uc011mrq.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrr.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrs.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrt.1_Missense_Mutation_p.P153A|BHLHB9_uc004ejo.2_Missense_Mutation_p.P153A|BHLHB9_uc011mru.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrv.1_Missense_Mutation_p.P153A NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 153 cytoplasm|nucleus binding ovary(2) 2 GGAGTTGGAACCTGCGGCTGG 0.488 34 181 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123205067 123205067 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:123205067G>T uc004etz.3 + 24 2766 c.2427G>T c.(2425-2427)ATG>ATT p.M809I STAG2_uc004eua.2_Missense_Mutation_p.M809I|STAG2_uc004eub.2_Missense_Mutation_p.M809I|STAG2_uc004euc.2_Missense_Mutation_p.M809I|STAG2_uc004eud.2_Missense_Mutation_p.M809I|STAG2_uc004eue.2_Missense_Mutation_p.M809I NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 809 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GGCGTGACATGTTAGAGCCAT 0.363 29 235 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125299535 125299535 + Missense_Mutation SNP C G G TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:125299535C>G uc004euk.1 - 1 400 c.373G>C c.(373-375)GTG>CTG p.V125L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 125 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CCTGACTGCACGTCCACCACA 0.642 21 87 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128649887 128649887 + Missense_Mutation SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:128649887A>T uc004eun.3 - 4 626 c.513T>A c.(511-513)TTT>TTA p.F171L SMARCA1_uc004eup.3_Missense_Mutation_p.F171L|SMARCA1_uc011muk.1_Missense_Mutation_p.F171L|SMARCA1_uc011mul.1_Missense_Mutation_p.F171L NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 171 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 GTGACACCTCAAATCTAATAC 0.348 13 83 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129799638 129799638 + Missense_Mutation SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:129799638G>T uc004evw.2 - 10 1498 c.1080C>A c.(1078-1080)AGC>AGA p.S360R ENOX2_uc004evx.2_Missense_Mutation_p.S331R|ENOX2_uc004evy.2_Missense_Mutation_p.S331R|ENOX2_uc004evv.2_Missense_Mutation_p.S187R NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 360 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TGCACCACACGCTGATGTTCT 0.483 5 33 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130217853 130217853 + Silent SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:130217853G>T uc004evz.2 + 4 810 c.465G>T c.(463-465)GTG>GTT p.V155V ARHGAP36_uc004ewa.2_Silent_p.V143V|ARHGAP36_uc004ewb.2_Silent_p.V124V|ARHGAP36_uc004ewc.2_Silent_p.V19V NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 155 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GAAACGTGGTGCGAAGGGTGT 0.612 26 97 --- --- --- --- PASS MIR513C 100302114 broad.mit.edu 37 X 146271247 146271247 + RNA SNP G T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:146271247G>T hsa-mir-513c|MI0006649 - c.59G>T 0 ttctcagaaaggtgaaattta 0.184 6 68 --- --- --- --- PASS MAGEA1 4100 broad.mit.edu 37 X 152482623 152482623 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:152482623C>T uc004fhf.2 - 3 608 c.388G>A c.(388-390)GAG>AAG p.E130K NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 130 MAGE. cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGACACTCTCCAGCATTTCT 0.473 31 207 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153582286 153582286 + Nonsense_Mutation SNP C A A TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:153582286C>A uc004fkk.2 - 35 5932 c.5683G>T c.(5683-5685)GAG>TAG p.E1895* FLNA_uc004fki.2_5'UTR|FLNA_uc011mzn.1_Nonsense_Mutation_p.E86*|FLNA_uc010nuu.1_Nonsense_Mutation_p.E1887* NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1895 Filamin 17. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCTCACCCTCTCCTGCATCC 0.587 OREG0003596 type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 88 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153695768 153695768 + Missense_Mutation SNP C T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:153695768C>T uc004flm.2 + 19 3568 c.3395C>T c.(3394-3396)CCC>CTC p.P1132L NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1132 IPT/TIG 4.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGCTGGGGCCCTCTGGCGTG 0.662 17 30 --- --- --- --- PASS VBP1 7411 broad.mit.edu 37 X 154448554 154448554 + Missense_Mutation SNP T C C TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:154448554T>C uc004fnc.2 + 2 247 c.188T>C c.(187-189)ATG>ACG p.M63T VBP1_uc004fnd.2_Missense_Mutation_p.M26T NM_003372 NP_003363 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 63 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TATAAGTTTATGGAACTCAAC 0.299 18 47 --- --- --- --- PASS TMLHE 55217 broad.mit.edu 37 X 154741382 154741382 + Missense_Mutation SNP A T T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chrX:154741382A>T uc004fnn.2 - 5 876 c.710T>A c.(709-711)CTA>CAA p.L237Q TMLHE_uc004fno.2_Missense_Mutation_p.L237Q|TMLHE_uc004fnp.3_Missense_Mutation_p.L237Q NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 237 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) ATCCAGAGCTAGCTTGGTGTA 0.418 34 138 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 5 180699087 180699087 + RNA DEL A - - rs33935828 TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 90b97948-26f7-4431-be89-af8c432baae0 5a5e1d10-f089-48cb-9e33-15d8e46585d1 g.chr5:180699087delA uc003mnq.2 + 3 c.451delA Homo sapiens cDNA clone IMAGE:3910094, partial cds. TTTCCATCAGAAAAAAAAAAA 0.408 4 2 --- --- --- ---