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 PLEKHN1 84069 broad.mit.edu 37 1 909247 909247 + Missense_Mutation SNP C T T rs72631892 by1000genomes TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:909247C>T uc001ace.2 + 13 1660 c.1625C>T c.(1624-1626)ACG>ATG p.T542M PLEKHN1_uc001acd.2_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.2_Missense_Mutation_p.T455M NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 542 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CGTGGACCCACGCCCTCGAGC 0.682 TAS1R2 80834 broad.mit.edu 37 1 19168299 19168299 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:19168299C>T uc001bba.1 - 5 1516 c.1515G>A c.(1513-1515)AAG>AAA p.K505K NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 505 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCACAGGCTTCTTCTTTTGCC 0.557 RIMS3 9783 broad.mit.edu 37 1 41107474 41107474 + Missense_Mutation SNP C T T rs149583022 TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:41107474C>T uc001cfu.1 - 3 593 c.124G>A c.(124-126)GCC>ACC p.A42T RIMS3_uc001cfv.1_Missense_Mutation_p.A42T NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 42 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CGCTTCTTGGCGGTGGTGGTC 0.657 PTPRF 5792 broad.mit.edu 37 1 44069550 44069550 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:44069550G>A uc001cjr.2 + 16 3067 c.2727G>A c.(2725-2727)AGG>AGA p.R909R PTPRF_uc001cjs.2_Silent_p.R900R|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.R469R|PTPRF_uc001cjv.2_Silent_p.R369R|PTPRF_uc001cjw.2_Silent_p.R135R NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 909 Extracellular (Potential).|Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGAGATCAGGACCCCCGAGG 0.627 WLS 79971 broad.mit.edu 37 1 68603590 68603590 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:68603590G>A uc001def.1 - 11 1660 c.1389C>T c.(1387-1389)GGC>GGT p.G463G uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 463 Lumenal (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 CTGTGACGCCGCCCCATTTCC 0.443 ATP1A1 476 broad.mit.edu 37 1 116943788 116943788 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:116943788C>T uc001ege.2 + 20 3094 c.2755C>T c.(2755-2757)CAC>TAC p.H919Y ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.1_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.1_Missense_Mutation_p.H888Y|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Missense_Mutation_p.H61Y NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 919 Helical; (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GTTCACCTGCCACACAGCCTT 0.532 TBX15 6913 broad.mit.edu 37 1 119441665 119441665 + Missense_Mutation SNP A G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:119441665A>G uc001ehl.1 - 7 1007 c.692T>C c.(691-693)ATG>ACG p.M231T TBX15_uc009whj.1_Missense_Mutation_p.M22T NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 337 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CTGCTTCTGCATGGTGGTGAA 0.527 SV2A 9900 broad.mit.edu 37 1 149885276 149885276 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:149885276G>A uc001etg.2 - 2 608 c.117C>T c.(115-117)GAC>GAT p.D39D SV2A_uc001eth.2_Silent_p.D39D NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 39 Cytoplasmic (Potential).|Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GGGAATATTCGTCCTGGACTC 0.542 FLG 2312 broad.mit.edu 37 1 152283084 152283084 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:152283084G>A uc001ezu.1 - 3 4314 c.4278C>T c.(4276-4278)TCC>TCT p.S1426S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1426 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACGTGCGGACTCTTTGT 0.557 Ichthyosis USH2A 7399 broad.mit.edu 37 1 216371751 216371751 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr1:216371751C>A uc001hku.1 - 18 4374 c.3987G>T c.(3985-3987)TTG>TTT p.L1329F USH2A_uc001hkv.2_Missense_Mutation_p.L1329F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1329 Fibronectin type-III 3.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTATGGCTCCAAGCCAGTGA 0.443 HNSCC(13;0.011) SLC18A3 6572 broad.mit.edu 37 10 50820049 50820049 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:50820049C>T uc001jhw.2 + 1 1703 c.1263C>T c.(1261-1263)TAC>TAT p.Y421Y CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 421 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCAGCGTCTACGCCATCGCCG 0.622 TMEM26 219623 broad.mit.edu 37 10 63212688 63212688 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:63212688G>A uc001jlo.2 - 1 521 c.152C>T c.(151-153)GCG>GTG p.A51V TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 51 Helical; (Potential). integral to membrane 0 Prostate(12;0.0112) GAGGGTGAGCGCAGTCTCCAG 0.642 ZNF365 22891 broad.mit.edu 37 10 64159484 64159484 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:64159484G>A uc001jly.3 + 5 1267 c.1205G>A c.(1204-1206)CGC>CAC p.R402H ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R387H|ZNF365_uc001jma.3_RNA NM_014951 NP_055766 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform A Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GGGTTTGGCCGCAAAGGCAAC 0.537 VCL 7414 broad.mit.edu 37 10 75849002 75849002 + Silent SNP T C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:75849002T>C uc001jwd.2 + 9 1165 c.1071T>C c.(1069-1071)TCT>TCC p.S357S VCL_uc009xrr.2_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.2_Silent_p.S357S|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 357 1.|N-terminal globular head.|3 X 112 AA tandem repeats. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) AGCAGGTATCTCAGGGTCTGG 0.488 PTEN 5728 broad.mit.edu 37 10 89653808 89653808 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:89653808G>A uc001kfb.2 + 3 1137 c.106G>A c.(106-108)GGA>AGA p.G36R NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 36 Phosphatase tensin-type. G -> R (in endometrial hyperplasia).|G -> E (in glioma). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATTGCTATGGGATTTCCTGC 0.284 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) TNKS2 80351 broad.mit.edu 37 10 93619322 93619322 + Silent SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:93619322C>A uc001khp.2 + 25 3495 c.3198C>A c.(3196-3198)TCC>TCA p.S1066S NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 1066 PARP catalytic. 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 p.S1066F(1) kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AAAACTCTTCCAAAAGCAATC 0.398 HPSE2 60495 broad.mit.edu 37 10 100374687 100374687 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:100374687C>T uc001kpn.1 - 9 1354 c.1294G>A c.(1294-1296)GTG>ATG p.V432M HPSE2_uc009xwc.1_Missense_Mutation_p.V422M|HPSE2_uc001kpo.1_Missense_Mutation_p.V364M|HPSE2_uc009xwd.1_Missense_Mutation_p.V310M NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 432 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TTCTGGTCCACGAGGTGATTG 0.418 DNMBP 23268 broad.mit.edu 37 10 101716779 101716779 + Missense_Mutation SNP C T T rs138795130 TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr10:101716779C>T uc001kqj.2 - 4 544 c.452G>A c.(451-453)CGG>CAG p.R151Q NCRNA00093_uc001kqk.1_RNA NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 151 SH3 3. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CATTAGGGCCCGGGCTTGTCC 0.557 OR51F2 119694 broad.mit.edu 37 11 4842972 4842972 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:4842972C>T uc010qyn.1 + 1 357 c.357C>T c.(355-357)CAC>CAT p.H119H NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTTCTACACGGATTTACTT 0.468 UEVLD 55293 broad.mit.edu 37 11 18587922 18587922 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:18587922C>G uc001mot.2 - 5 545 c.465G>C c.(463-465)TTG>TTC p.L155F UEVLD_uc001mou.2_Missense_Mutation_p.L155F|UEVLD_uc010rde.1_Missense_Mutation_p.L25F|UEVLD_uc010rdf.1_Missense_Mutation_p.L133F|UEVLD_uc010rdg.1_Missense_Mutation_p.L25F|UEVLD_uc001mov.2_Missense_Mutation_p.L133F|UEVLD_uc010rdh.1_Missense_Mutation_p.L155F NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 155 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 TATAGGCTAGCAAGTCTACCT 0.368 OR10AG1 282770 broad.mit.edu 37 11 55735344 55735344 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:55735344G>A uc010rit.1 - 1 596 c.596C>T c.(595-597)ACG>ATG p.T199M NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAATGGCACCGTGATAAACAC 0.408 OR10AG1 282770 broad.mit.edu 37 11 55735807 55735807 + Missense_Mutation SNP C T T rs139897319 byFrequency TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:55735807C>T uc010rit.1 - 1 133 c.133G>A c.(133-135)GCT>ACT p.A45T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 45 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GTCTGGAGAGCGGGGTGAATT 0.348 SLC22A10 387775 broad.mit.edu 37 11 63071595 63071595 + Missense_Mutation SNP G A A rs112720090 TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:63071595G>A uc009yor.2 + 8 1509 c.1301G>A c.(1300-1302)CGT>CAT p.R434H SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 434 Cytoplasmic (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CAGACCCTGCGTGTGGCTTTG 0.453 NAALADL1 10004 broad.mit.edu 37 11 64820765 64820765 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:64820765C>T uc001ocn.2 - 8 1139 c.1123G>A c.(1123-1125)GGG>AGG p.G375R NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 375 NAALADase.|Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 TCCACAGCCCCGTGCACCCAG 0.672 PCNXL3 399909 broad.mit.edu 37 11 65402835 65402835 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr11:65402835G>A uc001oey.2 + 31 5100 c.5100G>A c.(5098-5100)GCG>GCA p.A1700A PCNXL3_uc001oez.2_Silent_p.A587A NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1700 integral to membrane 0 CCCTGCTGGCGCTGCGCCATG 0.632 GDF3 9573 broad.mit.edu 37 12 7842931 7842931 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:7842931C>T uc001qte.2 - 2 674 c.638G>A c.(637-639)GGG>GAG p.G213E NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 213 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 AAAATTCACCCCTGAGTCTCT 0.493 NELL2 4753 broad.mit.edu 37 12 45173691 45173691 + Nonsense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:45173691C>T uc001rog.2 - 4 1045 c.450G>A c.(448-450)TGG>TGA p.W150* NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010skz.1_Nonsense_Mutation_p.W200*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150* NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 150 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AGAGCTTGTGCCACTTGTCAT 0.438 ARID2 196528 broad.mit.edu 37 12 46245949 46245949 + Missense_Mutation SNP A T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:46245949A>T uc001ros.1 + 15 4043 c.4043A>T c.(4042-4044)GAT>GTT p.D1348V ARID2_uc001ror.2_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1348 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GACATGCAAGATATCAAAAGT 0.358 KRT78 196374 broad.mit.edu 37 12 53242331 53242331 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:53242331C>T uc001sbc.1 - 1 448 c.384G>A c.(382-384)AAG>AAA p.K128K NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 128 Coil 1A.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 TGACCCTCACCTTGTCAATGA 0.537 SLC24A6 80024 broad.mit.edu 37 12 113770568 113770568 + Missense_Mutation SNP T A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:113770568T>A uc001tvc.2 - 2 326 c.116A>T c.(115-117)CAG>CTG p.Q39L SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 39 Extracellular (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 AGCTGGAAACTGGGGGCTAAT 0.527 TBX5 6910 broad.mit.edu 37 12 114832695 114832695 + Missense_Mutation SNP T A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:114832695T>A uc001tvo.2 - 6 1009 c.514A>T c.(514-516)ATT>TTT p.I172F TBX5_uc001tvp.2_Missense_Mutation_p.I172F|TBX5_uc001tvq.2_Missense_Mutation_p.I122F|TBX5_uc010syv.1_Missense_Mutation_p.I172F NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 172 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GAATTTAGAATAATCTAAAAA 0.368 TAOK3 51347 broad.mit.edu 37 12 118639103 118639103 + Frame_Shift_Del DEL C - - TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr12:118639103delC uc001twx.2 - 12 1280 c.985delG c.(985-987)GAAfs p.E329fs TAOK3_uc001tww.2_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.3_Frame_Shift_Del_p.E329fs NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 329 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAACCTACTTCCTCATCCTCC 0.234 UCHL3 7347 broad.mit.edu 37 13 76134909 76134909 + Silent SNP A T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr13:76134909A>T uc001vjq.2 + 3 105 c.75A>T c.(73-75)CTA>CTT p.L25L UCHL3_uc001vjr.2_5'UTR NM_006002 NP_005993 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 25 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity 0 GBM - Glioblastoma multiforme(99;0.0125) AATTAGGTCTACATCCTAACT 0.333 POTEG 404785 broad.mit.edu 37 14 19553823 19553823 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:19553823G>A uc001vuz.1 + 1 459 c.407G>A c.(406-408)CGT>CAT p.R136H POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 136 p.R136H(1) ovary(1) 1 TACCACGTCCGTCGAGAAGAT 0.577 OXA1L 5018 broad.mit.edu 37 14 23239044 23239044 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:23239044G>A uc001wgn.2 + 4 664 c.664G>A c.(664-666)GGC>AGC p.G222S OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.G222S|OXA1L_uc001wgp.2_Missense_Mutation_p.G146S|OXA1L_uc001wgq.2_5'UTR NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 162 Mitochondrial intermembrane (Potential). aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CATCGTGACGGGCCAGCGAGA 0.488 PCK2 5106 broad.mit.edu 37 14 24567814 24567814 + Silent SNP T C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:24567814T>C uc001wlt.2 + 4 723 c.591T>C c.(589-591)CCT>CCC p.P197P NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.P209P|PCK2_uc001wls.2_Silent_p.P197P|PCK2_uc010tnw.1_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.1_Silent_p.P63P|PCK2_uc001wlu.3_Silent_p.P63P NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 197 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) TGGGGACACCTGTGCTTCAGG 0.617 FOXG1 2290 broad.mit.edu 37 14 29237322 29237322 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:29237322C>T uc001wqe.2 + 1 1036 c.837C>T c.(835-837)ACC>ACT p.T279T NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 279 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCTCCACCACCTCGCGGGCCA 0.701 TDRD9 122402 broad.mit.edu 37 14 104488645 104488645 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:104488645G>A uc001yom.3 + 24 2614 c.2584G>A c.(2584-2586)GTC>ATC p.V862I TDRD9_uc001yon.3_Missense_Mutation_p.V600I NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 862 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) AGGCATGAACGTCTCAAAGCT 0.448 PLD4 122618 broad.mit.edu 37 14 105397140 105397140 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:105397140C>T uc001ypu.1 + 7 920 c.779C>T c.(778-780)ACC>ATC p.T260I PLD4_uc010tyl.1_Missense_Mutation_p.T267I NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 260 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CTGGAGAAGACCTTCCAGACC 0.572 GPR132 29933 broad.mit.edu 37 14 105518239 105518239 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr14:105518239C>T uc001yqd.2 - 4 1134 c.235G>A c.(235-237)GTC>ATC p.V79I GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V70I NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 79 Cytoplasmic (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) AGCAGGTAGACGGCCAGCACG 0.657 PLA2G4F 255189 broad.mit.edu 37 15 42442026 42442026 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr15:42442026C>T uc001zoz.2 - 11 1007 c.944G>A c.(943-945)CGC>CAC p.R315H PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R66H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R102H NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 315 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AAAGCCAAGGCGTAGGTCTAG 0.632 TLN2 83660 broad.mit.edu 37 15 63055766 63055766 + Missense_Mutation SNP A C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr15:63055766A>C uc002alb.3 + 37 4966 c.4966A>C c.(4966-4968)AAG>CAG p.K1656Q TLN2_uc002alc.3_Missense_Mutation_p.K49Q|TLN2_uc002ald.2_Missense_Mutation_p.K49Q NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1656 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TTCCAGGGACAAGGCCCCTGG 0.617 C15orf39 56905 broad.mit.edu 37 15 75503308 75503308 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr15:75503308G>A uc002azp.3 + 3 3315 c.2995G>A c.(2995-2997)GGC>AGC p.G999S C15orf39_uc002azq.3_Missense_Mutation_p.G999S|C15orf39_uc002azr.3_3'UTR NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 999 0 CAGCCCACCTGGCCCCACACT 0.662 C15orf27 123591 broad.mit.edu 37 15 76496348 76496348 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr15:76496348C>T uc002bbq.2 + 11 1443 c.1288C>T c.(1288-1290)CCA>TCA p.P430S C15orf27_uc010bkp.2_Missense_Mutation_p.P246S|C15orf27_uc002bbr.2_Missense_Mutation_p.P246S|C15orf27_uc002bbs.2_Missense_Mutation_p.P108S NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 430 integral to membrane 0 CCCGCCGCTGCCATCCCAGCA 0.701 WASH3P 374666 broad.mit.edu 37 15 102515335 102515335 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr15:102515335C>G uc002cdi.2 + 9 1979 c.559C>G c.(559-561)CTG>GTG p.L187V WASH3P_uc002cdl.2_Missense_Mutation_p.L187V|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.L187V|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 GGAGCGAAAGCTGGAGAAGAA 0.652 DECR2 26063 broad.mit.edu 37 16 460737 460737 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:460737G>A uc002chb.2 + 6 615 c.509G>A c.(508-510)CGG>CAG p.R170Q DECR2_uc002chc.2_Missense_Mutation_p.R86Q|DECR2_uc010bqv.2_Missense_Mutation_p.R86Q|DECR2_uc002chd.2_Missense_Mutation_p.R86Q|DECR2_uc002che.1_RNA NM_020664 NP_065715 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2 170 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding 0 Hepatocellular(16;0.00015) CTGGGGAACCGGGGGCAGGCG 0.701 IGFALS 3483 broad.mit.edu 37 16 1841525 1841525 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:1841525G>A uc002cmy.2 - 2 975 c.894C>T c.(892-894)TCC>TCT p.S298S IGFALS_uc010uvn.1_Silent_p.S336S|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 298 LRR 10. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 TGGCGTTGTGGGACAGCCGCA 0.687 PRSS22 64063 broad.mit.edu 37 16 2903295 2903295 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:2903295G>A uc002cry.1 - 6 819 c.753C>T c.(751-753)GAC>GAT p.D251D PRSS22_uc002crz.1_Silent_p.D141D NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 251 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 GCCAGGCGCCGTCCACCTGGC 0.711 DNAH3 55567 broad.mit.edu 37 16 21045351 21045351 + Silent SNP G A A rs143127393 by1000genomes TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:21045351G>A uc010vbe.1 - 36 5142 c.5142C>T c.(5140-5142)GGC>GGT p.G1714G NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1714 ATP (Potential).|AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGGTCTTGCCGCCCATGGGGT 0.498 ITGAD 3681 broad.mit.edu 37 16 31427865 31427865 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:31427865C>T uc002ebv.1 + 20 2446 c.2397C>T c.(2395-2397)AAC>AAT p.N799N ITGAD_uc010cap.1_Silent_p.N800N NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 799 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGGAGCTCAACGTGATTGTGA 0.617 ZFHX3 463 broad.mit.edu 37 16 72993903 72993903 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr16:72993903C>A uc002fck.2 - 2 815 c.142G>T c.(142-144)GGG>TGG p.G48W ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 48 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TCCAAGGGCCCGTGGCTCTCG 0.667 USP22 23326 broad.mit.edu 37 17 20924447 20924447 + Silent SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:20924447G>T uc002gym.3 - 3 601 c.397C>A c.(397-399)CGA>AGA p.R133R USP22_uc002gyn.3_Silent_p.R121R|USP22_uc002gyl.3_Silent_p.R28R NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 133 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 CAAGCTTTTCGCTGCTCCTCC 0.478 KIF2B 84643 broad.mit.edu 37 17 51901070 51901070 + Nonsense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:51901070C>T uc002iua.2 + 1 832 c.676C>T c.(676-678)CGA>TGA p.R226* uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 226 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCTCAACCAGCGAGAGACAAC 0.557 MARCH10 162333 broad.mit.edu 37 17 60879073 60879073 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:60879073C>A uc010ddr.2 - 2 262 c.24G>T c.(22-24)AGG>AGT p.R8S MARCH10_uc002jag.3_Missense_Mutation_p.R8S|MARCH10_uc010dds.2_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 8 ligase activity|zinc ion binding 0 AGAACTTCTGCCTGTCCCTTG 0.453 LRRC37A3 374819 broad.mit.edu 37 17 62856062 62856062 + Missense_Mutation SNP A C C rs139735390 by1000genomes TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:62856062A>C uc002jey.2 - 11 4733 c.4202T>G c.(4201-4203)GTT>GGT p.V1401G LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1401 Extracellular (Potential). integral to membrane 0 TTCCATAAAAACATTTTCTTC 0.368 HELZ 9931 broad.mit.edu 37 17 65119252 65119252 + Missense_Mutation SNP A G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:65119252A>G uc010wqk.1 - 26 3654 c.3467T>C c.(3466-3468)ATT>ACT p.I1156T HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1155T NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGATTGCCAATAAGTACAGA 0.388 KIF19 124602 broad.mit.edu 37 17 72345437 72345437 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:72345437C>T uc002jkm.3 + 10 1300 c.1162C>T c.(1162-1164)CGG>TGG p.R388W KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 388 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GCAGACTGGGCGGGGCCAGGC 0.662 CBX2 84733 broad.mit.edu 37 17 77758656 77758656 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:77758656G>A uc002jxc.2 + 5 1456 c.1414G>A c.(1414-1416)GAC>AAC p.D472N NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 472 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTCCGACCCCGACTCCGCCTC 0.662 FOXK2 3607 broad.mit.edu 37 17 80521333 80521333 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr17:80521333G>A uc002kfn.2 + 2 694 c.523G>A c.(523-525)GTA>ATA p.V175I FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.2_Missense_Mutation_p.V175I NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 175 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) AGTGAAGGCCGTACAGCCACA 0.582 CCDC102B 79839 broad.mit.edu 37 18 66504203 66504204 + In_Frame_Ins INS - TAT TAT TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr18:66504203_66504204insTAT uc002lkk.2 + 4 426_427 c.203_204insTAT c.(202-204)GAT>GATATT p.69_70insI CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 69_70 ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AACAAATGGGATATTTGTGAAG 0.505 LRRC8E 80131 broad.mit.edu 37 19 7963647 7963647 + Missense_Mutation SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:7963647G>T uc002mir.2 + 3 341 c.240G>T c.(238-240)CAG>CAT p.Q80H NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 80 integral to membrane lung(1)|pancreas(1) 2 TCCCTGAGCAGATTGGGGCCC 0.522 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:12187275G>C uc002mtb.2 + 4 1483 c.1340G>C c.(1339-1341)CGT>CCT p.R447P ZNF844_uc010dym.1_Missense_Mutation_p.R290P NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCGTATGAGTGTA 0.433 TNPO2 30000 broad.mit.edu 37 19 12817567 12817567 + Missense_Mutation SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:12817567G>T uc002muo.2 - 13 1498 c.1313C>A c.(1312-1314)CCG>CAG p.P438Q TNPO2_uc002mup.2_Missense_Mutation_p.P530Q|TNPO2_uc002muq.2_Missense_Mutation_p.P438Q|TNPO2_uc002mur.2_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 438 HEAT 7. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GATCAGGTGCGGGATCAGCTC 0.632 ZNF676 163223 broad.mit.edu 37 19 22363820 22363820 + Silent SNP A T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:22363820A>T uc002nqs.1 - 3 1017 c.699T>A c.(697-699)GCT>GCA p.A233A NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 233 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATCGATTAAAAGCTTTGCCAC 0.358 RYR1 6261 broad.mit.edu 37 19 38983254 38983254 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:38983254G>A uc002oit.2 + 38 6382 c.6252G>A c.(6250-6252)CGG>CGA p.R2084R RYR1_uc002oiu.2_Silent_p.R2084R NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2084 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGAGGAGCGGTCAGCAGAGG 0.627 TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A - - TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:39972604delA uc002olu.1 + 2 632 c.499delA c.(499-501)AAAfs p.K167fs TIMM50_uc002olt.1_RNA NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 64 Mitochondrial matrix (Potential). mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 ZNF284 342909 broad.mit.edu 37 19 44589943 44589943 + Nonsense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:44589943G>A uc002oyg.1 + 5 528 c.312G>A c.(310-312)TGG>TGA p.W104* ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) AGCAAATCTGGGAACAAACTG 0.468 ZNF528 84436 broad.mit.edu 37 19 52918709 52918709 + Missense_Mutation SNP A C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:52918709A>C uc002pzh.2 + 7 1030 c.604A>C c.(604-606)ACT>CCT p.T202P ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TGCAAGCCTTACTAACCAAGT 0.398 NLRP12 91662 broad.mit.edu 37 19 54314485 54314485 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:54314485C>T uc002qch.3 - 3 648 c.428G>A c.(427-429)CGC>CAC p.R143H NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R143H|NLRP12_uc002qcj.3_Missense_Mutation_p.R143H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R143H NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 143 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCGCGCATTGCGGTCTTCCAT 0.567 ZNF416 55659 broad.mit.edu 37 19 58084494 58084494 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr19:58084494G>A uc002qpf.2 - 4 949 c.778C>T c.(778-780)CTG>TTG p.L260L ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 260 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) ACTCTTTGCAGCTGAACAAGG 0.458 E2F6 1876 broad.mit.edu 37 2 11587770 11587770 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:11587770G>A uc002rbh.2 - 6 1074 c.782C>T c.(781-783)CCA>CTA p.P261L E2F6_uc002rbe.2_Missense_Mutation_p.P186L|E2F6_uc002rbf.2_Missense_Mutation_p.P229L|E2F6_uc002rbg.2_Missense_Mutation_p.P186L|E2F6_uc002rbi.2_Missense_Mutation_p.P186L|E2F6_uc010yjl.1_RNA NM_198256 NP_937987 O75461 E2F6_HUMAN E2F transcription factor 6 261 Transcription repression. negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity skin(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) AGGGCCTTCTGGATGAGTGCT 0.398 MAP4K3 8491 broad.mit.edu 37 2 39509673 39509673 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:39509673G>A uc002rro.2 - 22 1701 c.1610C>T c.(1609-1611)CCT>CTT p.P537L MAP4K3_uc002rrp.2_Missense_Mutation_p.P516L|MAP4K3_uc010yns.1_Missense_Mutation_p.P90L NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 537 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) AGGTGTTGGAGGAAGACCATT 0.323 PPM1B 5495 broad.mit.edu 37 2 44428594 44428594 + Missense_Mutation SNP A G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:44428594A>G uc002rtt.2 + 2 684 c.256A>G c.(256-258)AGG>GGG p.R86G PPM1B_uc002rts.2_Missense_Mutation_p.R86G|PPM1B_uc002rtu.2_Missense_Mutation_p.R86G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R86G|PPM1B_uc002rtx.2_Missense_Mutation_p.R86G NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 86 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGAAGACTTTAGGGCAGCTGG 0.383 POU3F3 5455 broad.mit.edu 37 2 105473303 105473303 + Silent SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:105473303C>G uc010ywg.1 + 1 1335 c.1335C>G c.(1333-1335)CTC>CTG p.L445L NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 445 Homeobox. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 GCCTGCAGCTCGAGAAGGAGG 0.642 MERTK 10461 broad.mit.edu 37 2 112786347 112786347 + Nonsense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:112786347G>A uc002thk.1 + 19 3028 c.2906G>A c.(2905-2907)TGG>TAG p.W969* MERTK_uc002thl.1_Nonsense_Mutation_p.W793* NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 969 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GGGGTCTCCTGGTCCCATTCG 0.527 MCM6 4175 broad.mit.edu 37 2 136627932 136627932 + Splice_Site SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:136627932C>G uc002tuw.2 - 3 331 c.255_splice c.e3-1 p.R85_splice NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) AGGGTAAACTCTGAAAAACAA 0.428 ACVR1C 130399 broad.mit.edu 37 2 158412763 158412763 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:158412763G>A uc002tzk.3 - 3 629 c.386C>T c.(385-387)GCG>GTG p.A129V ACVR1C_uc002tzl.3_Intron|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.A79V NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 129 Helical; (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 TGTCAGCATCGCAGCTATGGA 0.478 FAP 2191 broad.mit.edu 37 2 163070563 163070563 + Missense_Mutation SNP A T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:163070563A>T uc002ucd.2 - 11 1095 c.887T>A c.(886-888)CTC>CAC p.L296H FAP_uc010zct.1_Missense_Mutation_p.L271H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.L263H NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 296 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 AACCCACGTGAGCCAACTGAA 0.368 LRP2 4036 broad.mit.edu 37 2 170115593 170115593 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:170115593G>A uc002ues.2 - 17 2668 c.2455C>T c.(2455-2457)CGC>TGC p.R819C LRP2_uc010zdf.1_Missense_Mutation_p.R682C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 819 LDL-receptor class B 7.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTACTGTGCGTCTCGTTTTA 0.398 COL3A1 1281 broad.mit.edu 37 2 189867049 189867049 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:189867049C>G uc002uqj.1 + 35 2534 c.2417C>G c.(2416-2418)CCA>CGA p.P806R NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 806 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACTGGCCCTCCAGGACCTGCT 0.438 MARCH4 57574 broad.mit.edu 37 2 217234856 217234856 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:217234856C>T uc002vgb.2 - 1 1895 c.128G>A c.(127-129)CGC>CAC p.R43H NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 43 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GAAGAGCATGCGGCAGCGGCA 0.652 DIS3L2 129563 broad.mit.edu 37 2 233194556 233194556 + Missense_Mutation SNP G C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr2:233194556G>C uc010fxz.2 + 15 2049 c.1773G>C c.(1771-1773)ATG>ATC p.M591I DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 591 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TGGCCAACATGGCAGTGGCCC 0.657 KCNB1 3745 broad.mit.edu 37 20 48098748 48098748 + Silent SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr20:48098748G>T uc002xur.1 - 1 434 c.270C>A c.(268-270)GGC>GGA p.G90G KCNB1_uc002xus.1_Silent_p.G90G NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 90 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGTGAAGGCGCCCGGGTGGC 0.607 TRPM2 7226 broad.mit.edu 37 21 45786765 45786765 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr21:45786765G>A uc002zet.1 + 5 765 c.552G>A c.(550-552)CCG>CCA p.P184P TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc010gpt.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 184 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACATGAAGCCGCGGCTGAAGA 0.637 LZTR1 8216 broad.mit.edu 37 22 21343151 21343151 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr22:21343151G>A uc002zto.2 + 6 686 c.583G>A c.(583-585)GGC>AGC p.G195S LZTR1_uc002ztn.2_Missense_Mutation_p.G154S|LZTR1_uc011ahy.1_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 195 Kelch 3. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTATGACGGCAACGCCAG 0.637 ITIH4 3700 broad.mit.edu 37 3 52857940 52857940 + Missense_Mutation SNP C T T rs141154056 byFrequency TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:52857940C>T uc003dfz.2 - 10 1288 c.1252G>A c.(1252-1254)GGT>AGT p.G418S ITIH4_uc011bel.1_Missense_Mutation_p.G148S|ITIH4_uc003dfy.2_Missense_Mutation_p.G282S|ITIH4_uc011bem.1_Missense_Mutation_p.G418S|ITIH4_uc011ben.1_Missense_Mutation_p.G418S NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 418 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACGTCGAAACCGAAGCCCAGG 0.612 IL17RB 55540 broad.mit.edu 37 3 53891662 53891662 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:53891662C>T uc003dha.2 + 8 731 c.692C>T c.(691-693)ACG>ATG p.T231M NM_018725 NP_061195 Q9NRM6 I17RB_HUMAN interleukin 17B receptor precursor 231 Extracellular (Potential). defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) AAGAAACAAACGCGAGCTTCA 0.373 PTPRG 5793 broad.mit.edu 37 3 61975388 61975388 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:61975388C>T uc003dlb.2 + 3 999 c.280C>T c.(280-282)CGT>TGT p.R94C PTPRG_uc003dlc.2_Missense_Mutation_p.R94C NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 94 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCAGTATGCGCGTGTTGGGGA 0.488 C3orf30 152405 broad.mit.edu 37 3 118865302 118865302 + Missense_Mutation SNP G A A rs138666071 TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:118865302G>A uc003ecb.1 + 1 306 c.266G>A c.(265-267)CGC>CAC p.R89H IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 89 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CAGGCTGGCCGCAGAGCATCC 0.502 OTOL1 131149 broad.mit.edu 37 3 161221595 161221595 + Missense_Mutation SNP G C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:161221595G>C uc011bpb.1 + 4 1299 c.1299G>C c.(1297-1299)TTG>TTC p.L433F NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 433 C1q. collagen 0 TCGTCATCTTGAAATTAAGTG 0.468 TP63 8626 broad.mit.edu 37 3 189604307 189604307 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr3:189604307C>T uc003fry.2 + 11 1563 c.1474C>T c.(1474-1476)CCT>TCT p.P492S TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 492 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CGCCCTCACTCCTACAACCAT 0.498 Hay-Wells_syndrome HNSCC(45;0.13) FGFRL1 53834 broad.mit.edu 37 4 1019042 1019042 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:1019042C>T uc003gce.2 + 7 1583 c.1422C>T c.(1420-1422)CTC>CTT p.L474L FGFRL1_uc003gcf.2_Silent_p.L474L|FGFRL1_uc003gcg.2_Silent_p.L474L|FGFRL1_uc010ibo.2_Silent_p.L474L NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 474 Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACCCCAAACTCTacacagaca 0.473 PCDH7 5099 broad.mit.edu 37 4 30725505 30725505 + Frame_Shift_Del DEL G - - TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:30725505delG uc003gsk.1 + 1 3469 c.2461delG c.(2461-2463)GTGfs p.V821fs PCDH7_uc011bxw.1_Frame_Shift_Del_p.V774fs|PCDH7_uc011bxx.1_Frame_Shift_Del_p.V821fs NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 821 Extracellular (Potential).|Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GGTGGTGCAAGTGAATGACAG 0.483 CNGA1 1259 broad.mit.edu 37 4 47945299 47945299 + Silent SNP T A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:47945299T>A uc003gxt.3 - 8 614 c.348A>T c.(346-348)TCA>TCT p.S116S uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S185S|CNGA1_uc003gxv.1_Silent_p.S116S NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 116 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity p.S116*(1) ovary(2) 2 TTTTATCATCTGACTTGCTGA 0.189 UGT2B28 54490 broad.mit.edu 37 4 70160416 70160416 + Silent SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:70160416G>T uc003hej.2 + 6 1481 c.1479G>T c.(1477-1479)GTG>GTT p.V493V UGT2B28_uc010ihr.2_3'UTR NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 493 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CTTTGGATGTGATTGGGTTTC 0.463 NAAA 27163 broad.mit.edu 37 4 76836138 76836138 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:76836138G>A uc003hjb.2 - 10 1063 c.999C>T c.(997-999)AAC>AAT p.N333N NAAA_uc003hja.2_Intron NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 333 lipid metabolic process lysosome hydrolase activity skin(1) 1 AAATTGTGAAGCTGAAAATTA 0.408 SHROOM3 57619 broad.mit.edu 37 4 77661454 77661454 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:77661454C>A uc011cbx.1 + 5 3081 c.2128C>A c.(2128-2130)CCT>ACT p.P710T SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.2_Missense_Mutation_p.P488T NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 710 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GAAAGCCGCTCCTGACCTCGG 0.667 SEC24B 10427 broad.mit.edu 37 4 110437770 110437770 + Nonsense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr4:110437770C>A uc003hzk.2 + 11 2155 c.2100C>A c.(2098-2100)TGC>TGA p.C700* SEC24B_uc003hzl.2_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.C664* NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 700 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAATTTTGTGCCAGTCACTCC 0.318 LYSMD3 116068 broad.mit.edu 37 5 89821101 89821101 + Silent SNP T C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr5:89821101T>C uc003kjr.2 - 2 154 c.6A>G c.(4-6)GCA>GCG p.A2A LYSMD3_uc010jaz.1_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 2 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) GATGCCTCCCTGCCATAATGT 0.403 C5orf36 285600 broad.mit.edu 37 5 93859726 93859726 + Missense_Mutation SNP T G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr5:93859726T>G uc011cuk.1 - 4 466 c.209A>C c.(208-210)GAC>GCC p.D70A C5orf36_uc003kkp.2_Missense_Mutation_p.D70A NM_001145678 NP_001139150 Q8IV33 K0825_HUMAN hypothetical protein LOC285600 isoform 1 70 0 all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236) all cancers(79;3.96e-19) TTCAAAGCAGTCAGTTGTTGT 0.318 SLC27A6 28965 broad.mit.edu 37 5 128359401 128359401 + Missense_Mutation SNP A G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr5:128359401A>G uc003kuy.2 + 7 1649 c.1253A>G c.(1252-1254)AAA>AGA p.K418R SLC27A6_uc003kuz.2_Missense_Mutation_p.K418R NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 418 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CATGTGAAAAAAGGTAAGACT 0.274 DOCK2 1794 broad.mit.edu 37 5 169097547 169097547 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr5:169097547G>A uc003maf.2 + 4 250 c.170G>A c.(169-171)GGC>GAC p.G57D DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 57 SH3. 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) ttCCAACAGGGCATTTTTCCT 0.328 C6orf114 85411 broad.mit.edu 37 6 13470477 13470477 + Silent SNP C T T rs150464914 TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr6:13470477C>T uc003nav.2 - 2 559 c.36G>A c.(34-36)CCG>CCA p.P12P GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA NM_033069 NP_149060 hypothetical protein LOC85411 0 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147) GGGCAATTGCCGGCTCATGAA 0.572 PHF1 5252 broad.mit.edu 37 6 33382871 33382871 + Frame_Shift_Del DEL C - - TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr6:33382871delC uc003oeh.2 + 12 1425 c.1189delC c.(1189-1191)CCCfs p.P397fs PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.2_Frame_Shift_Del_p.P197fs NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 397 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) GCGCAATCAGCCCGAGCCCCA 0.677 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF76 7629 broad.mit.edu 37 6 35261624 35261624 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr6:35261624G>A uc003oki.1 + 12 1631 c.1426G>A c.(1426-1428)GCC>ACC p.A476T ZNF76_uc003okj.1_Intron NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 476 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGTCCTGATGCCGACCTGGC 0.627 DNAH8 1769 broad.mit.edu 37 6 38998047 38998047 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr6:38998047C>G uc003ooe.1 + 91 13952 c.13352C>G c.(13351-13353)CCT>CGT p.P4451R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATGTGTGTCCTATTTACAAG 0.507 COL10A1 1300 broad.mit.edu 37 6 116442546 116442546 + Missense_Mutation SNP G T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr6:116442546G>T uc003pwm.2 - 3 829 c.733C>A c.(733-735)CCA>ACA p.P245T NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 245 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) GGGCCAATTGGTCCCATTTCT 0.597 CRHR2 1395 broad.mit.edu 37 7 30695576 30695576 + Missense_Mutation SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:30695576C>T uc003tbn.2 - 9 1128 c.884G>A c.(883-885)CGC>CAC p.R295H CRHR2_uc010kvw.1_Missense_Mutation_p.R295H|CRHR2_uc010kvx.1_Missense_Mutation_p.R294H|CRHR2_uc010kvy.1_Missense_Mutation_p.R131H|CRHR2_uc003tbo.2_Missense_Mutation_p.R281H|CRHR2_uc003tbp.2_Missense_Mutation_p.R322H NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 295 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 GGTGGACGCGCGTAACTTTGT 0.552 GTF2IRD1 9569 broad.mit.edu 37 7 74004217 74004217 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:74004217C>T uc003uaq.2 + 23 2796 c.2403C>T c.(2401-2403)ATC>ATT p.I801I GTF2IRD1_uc010lbq.2_Silent_p.I818I|GTF2IRD1_uc003uap.2_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 801 GTF2I-like 5. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 AGAAGGTGATCCTGCGGGAGC 0.592 CTTNBP2 83992 broad.mit.edu 37 7 117400762 117400762 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:117400762C>A uc003vjf.2 - 10 2991 c.2899G>T c.(2899-2901)GCT>TCT p.A967S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 967 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ATTTTAAGAGCATCTGTTAGA 0.284 FLNC 2318 broad.mit.edu 37 7 128489530 128489530 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:128489530C>G uc003vnz.3 + 30 5306 c.5097C>G c.(5095-5097)GAC>GAG p.D1699E FLNC_uc003voa.3_Missense_Mutation_p.D1699E NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1699 Filamin 15. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AGAACCATGACGGTACCTTTG 0.612 MEST 4232 broad.mit.edu 37 7 130140656 130140656 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:130140656C>G uc003vqg.2 + 9 891 c.674C>G c.(673-675)ACT>AGT p.T225S MEST_uc003vqc.2_Missense_Mutation_p.T216S|MEST_uc003vqd.2_Intron|MEST_uc003vqf.2_Missense_Mutation_p.T216S|MEST_uc011kph.1_Missense_Mutation_p.T211S|MEST_uc010lmg.2_Missense_Mutation_p.T225S NM_002402 NP_002393 Q5EB52 MEST_HUMAN mesoderm specific transcript isoform a 225 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding ovary(2) 2 Melanoma(18;0.0435) GGGCCGTATACTCGGCCCTCT 0.428 BPGM 669 broad.mit.edu 37 7 134346605 134346605 + Nonsense_Mutation SNP A T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:134346605A>T uc003vrv.2 + 3 887 c.346A>T c.(346-348)AGA>TGA p.R116* BPGM_uc003vrw.2_Nonsense_Mutation_p.R116*|BPGM_uc003vrx.2_Nonsense_Mutation_p.R116* NM_199186 NP_954655 P07738 PMGE_HUMAN bisphosphoglycerate mutase 116 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 GAGGCTCTGGAGAAGAAGCTA 0.493 CNTNAP2 26047 broad.mit.edu 37 7 147336290 147336290 + Missense_Mutation SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr7:147336290G>A uc003weu.1 + 13 2506 c.1990G>A c.(1990-1992)GTT>ATT p.V664I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 664 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GACACAGCTCGTTTACAGCGC 0.498 HNSCC(39;0.1) DPYSL2 1808 broad.mit.edu 37 8 26510765 26510765 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr8:26510765G>A uc003xfb.1 + 13 1829 c.1479G>A c.(1477-1479)GGG>GGA p.G493G DPYSL2_uc003xfa.2_Silent_p.G598G|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.G457G NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 493 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGCTGAGAGGGGTTCCTCGTG 0.602 PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T - - TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr8:48746799delT uc003xqi.2 - 60 8167 c.8110delA c.(8110-8112)AGGfs p.R2704fs PRKDC_uc003xqj.2_Frame_Shift_Del_p.R2704fs|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 NHEJ FBXL6 26233 broad.mit.edu 37 8 145579316 145579316 + Missense_Mutation SNP C G G TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr8:145579316C>G uc003zcb.2 - 9 1520 c.1495G>C c.(1495-1497)GGC>CGC p.G499R C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.G226R|FBXL6_uc003zca.2_Missense_Mutation_p.G493R|FBXL6_uc010mfx.2_Missense_Mutation_p.G260R|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 499 LRR 11. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TAGAGCAGGCCCGGGCAGCTG 0.657 IFT74 80173 broad.mit.edu 37 9 26984346 26984346 + Missense_Mutation SNP G C C TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr9:26984346G>C uc010mja.2 + 5 524 c.397G>C c.(397-399)GAA>CAA p.E133Q IFT74_uc010mjb.2_Missense_Mutation_p.E133Q|IFT74_uc003zqf.3_Missense_Mutation_p.E133Q|IFT74_uc003zqg.3_Missense_Mutation_p.E133Q NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a 133 Potential. cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum skin(1) 1 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TTTGTCATATGAAAAGAGGTG 0.264 GAPVD1 26130 broad.mit.edu 37 9 128069702 128069702 + Missense_Mutation SNP C A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr9:128069702C>A uc010mwx.2 + 7 1453 c.1127C>A c.(1126-1128)GCC>GAC p.A376D GAPVD1_uc004bpo.2_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpp.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.2_Missense_Mutation_p.A376D|GAPVD1_uc004bps.2_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 376 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGCTGTGTTGCCGCTTTCCTT 0.408 SLC2A6 11182 broad.mit.edu 37 9 136338317 136338317 + Silent SNP G A A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr9:136338317G>A uc004cee.2 - 9 1373 c.1278C>T c.(1276-1278)CCC>CCT p.P426P SLC2A6_uc004cef.2_Silent_p.P364P|SLC2A6_uc004ceg.2_Silent_p.P403P NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 426 Cytoplasmic (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GGGCACGCAGGGGCAGGACCT 0.672 TUBBP5 643224 broad.mit.edu 37 9 141070915 141070915 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chr9:141070915C>T uc004com.2 + 4 579 c.318C>T c.(316-318)ACC>ACT p.T106T TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGTCAGACACCGTGGTGGAGC 0.522 SYTL5 94122 broad.mit.edu 37 X 37955451 37955451 + Silent SNP C T T TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 18b48e97-cf39-48e8-8d60-d19de637ff5d 36421180-ef2e-4177-9a7a-ae779a45fc6a g.chrX:37955451C>T uc004ddu.2 + 10 1560 c.1026C>T c.(1024-1026)AGC>AGT p.S342S SYTL5_uc004ddv.2_Silent_p.S342S|SYTL5_uc004ddx.2_Silent_p.S342S NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 342 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 ATACTGTAAGCATAAGAAGCA 0.413