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 MRTO4 51154 broad.mit.edu 37 1 19584431 19584431 + Missense_Mutation SNP T G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr1:19584431T>G uc001bbs.2 + 6 701 c.446T>G c.(445-447)ATG>AGG p.M149R NM_016183 NP_057267 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog 149 ribosome biogenesis nuclear membrane|nucleolus 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCCACTCCATGGAGCCACAG 0.597 SF3A3 10946 broad.mit.edu 37 1 38435290 38435290 + Nonsense_Mutation SNP C A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr1:38435290C>A uc001cci.2 - 13 1247 c.1123G>T c.(1123-1125)GAG>TAG p.E375* SF3A3_uc010oik.1_Nonsense_Mutation_p.E322* NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 375 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAAATGATCTCGTTCTCTTCA 0.468 HMCN1 83872 broad.mit.edu 37 1 186099788 186099788 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr1:186099788C>T uc001grq.1 + 85 13418 c.13189C>T c.(13189-13191)CGG>TGG p.R4397W HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4397 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCACAGAATCCGGCAACTGGG 0.507 DENND1B 163486 broad.mit.edu 37 1 197522236 197522236 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr1:197522236C>T uc001guf.3 - 16 1494 c.1156G>A c.(1156-1158)GAT>AAT p.D386N DENND1B_uc010ppe.1_Missense_Mutation_p.D366N|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.D356N NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 386 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AGTCGACCATCGATAAACTAG 0.303 RYR2 6262 broad.mit.edu 37 1 237791221 237791221 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr1:237791221G>A uc001hyl.1 + 41 6401 c.6281G>A c.(6280-6282)GGC>GAC p.G2094D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2094 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGTATGACGGCATTGGGGGT 0.557 KCNK18 338567 broad.mit.edu 37 10 118957199 118957199 + Missense_Mutation SNP G T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr10:118957199G>T uc010qsr.1 + 1 200 c.200G>T c.(199-201)AGA>ATA p.R67I NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 67 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) GAGCTCTGCAGAATCTTGAAC 0.582 TIAL1 7073 broad.mit.edu 37 10 121341480 121341480 + Frame_Shift_Del DEL T - - TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr10:121341480delT uc001lei.1 - 5 889 c.325delA c.(325-327)ACAfs p.T109fs TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc009xzi.1_5'UTR|TIAL1_uc010qtb.1_5'UTR NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 109 RRM 2. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) TCTTCTGTTGTAATTTCTGGA 0.348 KRTAP5-4 387267 broad.mit.edu 37 11 1642817 1642817 + Silent SNP A G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr11:1642817A>G uc009ycy.1 - 4 732 c.645T>C c.(643-645)GGT>GGC p.G215G NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 229 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGACCCACAACCTGAGGAGG 0.612 KRTAP5-4 387267 broad.mit.edu 37 11 1642827 1642827 + Missense_Mutation SNP G C C TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr11:1642827G>C uc009ycy.1 - 4 722 c.635C>G c.(634-636)TCC>TGC p.S212C NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 226 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACCTGAGGAGGAGCAGCAGGG 0.607 DCHS1 8642 broad.mit.edu 37 11 6647232 6647232 + Missense_Mutation SNP C T T rs149822394 TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr11:6647232C>T uc001mem.1 - 17 7060 c.6650G>A c.(6649-6651)CGT>CAT p.R2217H NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2217 Extracellular (Potential).|Cadherin 21. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACAATCCACGTGCCGGCTG 0.602 OR8J3 81168 broad.mit.edu 37 11 55904448 55904448 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr11:55904448C>T uc010riz.1 - 1 747 c.747G>A c.(745-747)ACG>ACA p.T249T NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CATAGAAAACCGTGACTGCTA 0.398 GIF 2694 broad.mit.edu 37 11 59610023 59610023 + Missense_Mutation SNP G T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr11:59610023G>T uc001noi.2 - 4 452 c.404C>A c.(403-405)CCC>CAC p.P135H GIF_uc010rkz.1_3'UTR NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 135 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 CGCTAGACTGGGCCCATAGAA 0.562 Unknown 0 broad.mit.edu 37 12 92000 92000 + Missense_Mutation SNP A T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr12:92000A>T uc010sdi.1 - 2 338 c.310T>A c.(310-312)TTG>ATG p.L104M uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; GGTCCTGGCAACACTCTGGAC 0.572 SCNN1A 6337 broad.mit.edu 37 12 6464465 6464465 + Silent SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr12:6464465G>A uc001qnx.2 - 6 1405 c.1116C>T c.(1114-1116)GGC>GGT p.G372G SCNN1A_uc001qnv.2_Silent_p.G72G|SCNN1A_uc001qnw.2_Silent_p.G431G|SCNN1A_uc010sfb.1_Silent_p.G395G NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 372 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) AGGTCTCCACGCCAGGCCGCA 0.612 MYO1A 4640 broad.mit.edu 37 12 57424856 57424856 + Missense_Mutation SNP G C C TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr12:57424856G>C uc001smw.3 - 23 2695 c.2452C>G c.(2452-2454)CAG>GAG p.Q818E MYO1A_uc010sqz.1_Missense_Mutation_p.Q656E|MYO1A_uc009zpd.2_Missense_Mutation_p.Q818E NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 818 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TGCAGCTCCTGATTTGCTGTG 0.517 NAV3 89795 broad.mit.edu 37 12 78574731 78574731 + Silent SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr12:78574731G>A uc001syp.2 + 30 5771 c.5598G>A c.(5596-5598)CCG>CCA p.P1866P NAV3_uc001syo.2_Silent_p.P1844P|NAV3_uc010sub.1_Silent_p.P1323P|NAV3_uc009zsf.2_Silent_p.P675P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1866 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTCGGCCACCGTCAGAATCCT 0.433 HNSCC(70;0.22) OR4N2 390429 broad.mit.edu 37 14 20296487 20296487 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr14:20296487G>A uc010tkv.1 + 1 880 c.880G>A c.(880-882)GTG>ATG p.V294M NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 294 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAACCAGGAAGTGAAAGCTTC 0.383 CLEC14A 161198 broad.mit.edu 37 14 38723845 38723845 + Missense_Mutation SNP G T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr14:38723845G>T uc001wum.1 - 1 1730 c.1383C>A c.(1381-1383)AAC>AAA p.N461K NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 461 Cytoplasmic (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TCACCCCATTGTTTGTGCAAT 0.607 PYGL 5836 broad.mit.edu 37 14 51387718 51387718 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr14:51387718C>T uc001wyu.2 - 6 855 c.728G>A c.(727-729)CGC>CAC p.R243H PYGL_uc010tqq.1_Missense_Mutation_p.R209H|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_Missense_Mutation_p.R46H NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 243 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AGACCAGAGGCGCATGGTGTT 0.502 SMOC1 64093 broad.mit.edu 37 14 70442486 70442486 + Missense_Mutation SNP C A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr14:70442486C>A uc001xls.1 + 4 686 c.433C>A c.(433-435)CCC>ACC p.P145T SMOC1_uc001xlt.1_Missense_Mutation_p.P145T NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 145 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GGATGGGAAGCCCATCAGTGG 0.517 C15orf2 23742 broad.mit.edu 37 15 24921536 24921536 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr15:24921536C>T uc001ywo.2 + 1 996 c.522C>T c.(520-522)GAC>GAT p.D174D NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 174 cell differentiation|multicellular organismal development|spermatogenesis p.D174D(1) ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGGAGGATGACGAGAAAAGGA 0.622 SEC14L5 9717 broad.mit.edu 37 16 5046964 5046964 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr16:5046964G>A uc002cye.2 + 8 1069 c.889G>A c.(889-891)GTG>ATG p.V297M NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 297 integral to membrane|intracellular transporter activity 0 GCAGCACCAGGTGGATCTCCT 0.612 ZFP90 146198 broad.mit.edu 37 16 68596966 68596966 + Missense_Mutation SNP A T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr16:68596966A>T uc010cff.2 + 5 568 c.276A>T c.(274-276)GAA>GAT p.E92D ZFP90_uc002ewb.2_Translation_Start_Site|ZFP90_uc002ewc.2_Translation_Start_Site|ZFP90_uc002ewd.2_Missense_Mutation_p.E92D|ZFP90_uc002ewe.2_Missense_Mutation_p.E92D NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 92 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) CCAGGCCTGAAGTCAAATCAT 0.423 GPR179 440435 broad.mit.edu 37 17 36486234 36486234 + Missense_Mutation SNP T C C TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr17:36486234T>C uc002hpz.2 - 11 3239 c.3218A>G c.(3217-3219)CAC>CGC p.H1073R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1073 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTTGAGGCTGTGGGATTTAGG 0.567 CDH7 1005 broad.mit.edu 37 18 63476948 63476948 + Silent SNP T C C TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr18:63476948T>C uc002ljz.2 + 3 544 c.219T>C c.(217-219)TCT>TCC p.S73S CDH7_uc002lka.2_Silent_p.S73S|CDH7_uc002lkb.2_Silent_p.S73S NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 73 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AGCTTCACTCTGATGTTGATA 0.378 NFIC 4782 broad.mit.edu 37 19 3449019 3449019 + Silent SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr19:3449019G>A uc010xhi.1 + 7 1028 c.966G>A c.(964-966)TCG>TCA p.S322S NFIC_uc002lxo.2_Silent_p.S313S|NFIC_uc010xhh.1_Silent_p.S313S|NFIC_uc002lxp.2_Silent_p.S322S|NFIC_uc010xhj.1_Silent_p.S322S NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 322 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAGGCATCTCGTCCCCGGTGA 0.632 TYK2 7297 broad.mit.edu 37 19 10467283 10467283 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr19:10467283G>A uc002moc.3 - 18 2956 c.2578C>T c.(2578-2580)CGC>TGC p.R860C TYK2_uc010dxe.2_Missense_Mutation_p.R675C NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 860 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AGGATGGTGCGGAATGATGGC 0.662 SARS2 54938 broad.mit.edu 37 19 39408365 39408365 + Frame_Shift_Del DEL G - - TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr19:39408365delG uc002oka.2 - 12 1319 c.1159delC c.(1159-1161)CGGfs p.R387fs SARS2_uc002ojz.2_Frame_Shift_Del_p.R197fs|SARS2_uc010xup.1_Frame_Shift_Del_p.R389fs|SARS2_uc002okb.2_Frame_Shift_Del_p.R387fs|SARS2_uc010xuq.1_Frame_Shift_Del_p.R387fs|SARS2_uc010xur.1_RNA NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 387 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCTCCACACCGGAAGTGCAAG 0.637 ZNF610 162963 broad.mit.edu 37 19 52869863 52869863 + Missense_Mutation SNP G A A rs150692972 TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr19:52869863G>A uc002pyx.3 + 6 1638 c.1232G>A c.(1231-1233)CGC>CAC p.R411H ZNF610_uc002pyy.3_Missense_Mutation_p.R411H|ZNF610_uc002pyz.3_Missense_Mutation_p.R368H|ZNF610_uc002pza.2_Missense_Mutation_p.R411H NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 411 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GTCTTTGGGCGCAAATTATAC 0.423 KIR2DL1 3802 broad.mit.edu 37 19 55284986 55284986 + Missense_Mutation SNP C T T rs117204680 byFrequency TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr19:55284986C>T uc002qhb.1 + 3 310 c.272C>T c.(271-273)ACG>ATG p.T91M KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.T91M NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 91 Extracellular (Potential).|Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) AGTCGCATGACGCAAGACCTG 0.532 VPS54 51542 broad.mit.edu 37 2 64147109 64147109 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:64147109C>T uc002scq.2 - 15 2235 c.2072G>A c.(2071-2073)CGC>CAC p.R691H VPS54_uc002scp.2_Missense_Mutation_p.R679H|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.R176H|VPS54_uc010fct.2_Missense_Mutation_p.R538H NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 691 protein transport|retrograde transport, endosome to Golgi 0 TTGCTTCCAGCGCTCATTGTC 0.393 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:107049631C>T uc010ywi.1 - 16 2373 c.2316G>A c.(2314-2316)GCG>GCA p.A772A NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding ovary(1) 1 TTTCTGAATCCGCATTTCGCA 0.373 RGPD4 285190 broad.mit.edu 37 2 108455386 108455386 + Missense_Mutation SNP T A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:108455386T>A uc010ywk.1 + 4 453 c.371T>A c.(370-372)CTT>CAT p.L124H RGPD4_uc002tdu.2_5'UTR NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 124 intracellular transport binding skin(2) 2 GCAGCAAAACTTTTCCCAGGA 0.333 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 GTDC1 79712 broad.mit.edu 37 2 144765034 144765034 + Missense_Mutation SNP A T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:144765034A>T uc002tvp.2 - 7 869 c.590T>A c.(589-591)GTT>GAT p.V197D GTDC1_uc002tvo.2_Missense_Mutation_p.V197D|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.V197D|GTDC1_uc010fnn.2_Missense_Mutation_p.V197D|GTDC1_uc002tvs.2_Missense_Mutation_p.V165D|GTDC1_uc010fno.2_Missense_Mutation_p.V68D|GTDC1_uc002tvt.1_Missense_Mutation_p.V197D NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 197 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) CATGGACAGAACCGCACCGCC 0.403 ALS2CR11 151254 broad.mit.edu 37 2 202401017 202401017 + Silent SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:202401017G>A uc002uye.2 - 13 1281 c.1233C>T c.(1231-1233)GGC>GGT p.G411G ALS2CR11_uc002uyf.2_Silent_p.G411G|ALS2CR11_uc010fti.2_Intron NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 411 large_intestine(1)|ovary(1)|skin(1) 3 GTATAGTCAGGCCTTTCTCAG 0.338 ALS2CR11 151254 broad.mit.edu 37 2 202483675 202483675 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:202483675G>A uc002uye.2 - 1 227 c.179C>T c.(178-180)ACG>ATG p.T60M ALS2CR11_uc002uyf.2_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.2_Missense_Mutation_p.T60M NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 60 large_intestine(1)|ovary(1)|skin(1) 3 AGGCAGGGCCGTCGTGCCCTG 0.642 FAM124B 79843 broad.mit.edu 37 2 225266256 225266256 + Missense_Mutation SNP G A A rs149161165 by1000genomes TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:225266256G>A uc002vnx.2 - 1 456 c.230C>T c.(229-231)CCG>CTG p.P77L FAM124B_uc002vnw.2_Missense_Mutation_p.P77L NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 77 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) ATCCTCTCCCGGGCTTTCGTG 0.572 ANO7 50636 broad.mit.edu 37 2 242142864 242142864 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr2:242142864C>T uc002wax.2 + 9 1105 c.1002C>T c.(1000-1002)CAC>CAT p.H334H NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 334 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CCCTGGACCACGTGCGCAGGT 0.692 APOBEC3A 200315 broad.mit.edu 37 22 39357613 39357613 + Silent SNP C T T rs141631289 TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr22:39357613C>T uc003awn.2 + 3 566 c.396C>T c.(394-396)TAC>TAT p.Y132Y APOBEC3A_uc011aob.1_Silent_p.Y114Y|APOBEC3A_uc011aoc.1_Silent_p.Y132Y NM_145699 NP_663745 P31941 ABC3A_HUMAN phorbolin 1 132 cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1) 1 Melanoma(58;0.04) TCTATGATTACGACCCCCTAT 0.572 FRYL 285527 broad.mit.edu 37 4 48569356 48569356 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr4:48569356C>T uc003gyh.1 - 28 3683 c.3078G>A c.(3076-3078)CTG>CTA p.L1026L FRYL_uc003gyk.2_Silent_p.L1026L|FRYL_uc003gyi.1_5'Flank NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1026 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TTTCTGCTTCCAGGAGTTGTC 0.343 USO1 8615 broad.mit.edu 37 4 76722293 76722293 + Silent SNP A G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr4:76722293A>G uc003hiu.2 + 16 2101 c.1926A>G c.(1924-1926)AAA>AAG p.K642K USO1_uc003hiv.2_Silent_p.K484K|USO1_uc003hiw.2_Silent_p.K477K NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 642 Potential. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AAGAGGTGAAAAAAACATTAG 0.294 CCDC125 202243 broad.mit.edu 37 5 68590723 68590723 + Missense_Mutation SNP G A A TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr5:68590723G>A uc003jvv.1 - 8 864 c.821C>T c.(820-822)GCG>GTG p.A274V CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 274 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCCGAGGACCGCAAGCTTTAA 0.488 VCAN 1462 broad.mit.edu 37 5 82849273 82849273 + Missense_Mutation SNP G A A rs145625752 TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr5:82849273G>A uc003kii.3 + 11 9940 c.9584G>A c.(9583-9585)CGG>CAG p.R3195Q VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3195 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCAGCTGAACGGGAATGCCGT 0.473 FAT2 2196 broad.mit.edu 37 5 150922879 150922879 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr5:150922879C>T uc003lue.3 - 9 7822 c.7809G>A c.(7807-7809)CCG>CCA p.P2603P GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2603 Cadherin 23.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGATAACCGGAGAGTCTT 0.443 HK3 3101 broad.mit.edu 37 5 176314737 176314737 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr5:176314737C>T uc003mfa.2 - 11 1407 c.1315G>A c.(1315-1317)GTC>ATC p.V439I HK3_uc003mez.2_5'UTR NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 439 Regulatory. V -> I (in Ref. 4; AAC50422). glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTGCAGGACGCTGCAGAAC 0.622 CARD11 84433 broad.mit.edu 37 7 2963984 2963984 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr7:2963984C>T uc003smv.2 - 15 2227 c.1823G>A c.(1822-1824)CGC>CAC p.R608H NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 608 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GAAGGAGTAGCGTTCGTGACT 0.642 Mis DLBCL PON3 5446 broad.mit.edu 37 7 95019499 95019499 + Silent SNP A G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr7:95019499A>G uc003unt.2 - 3 193 c.168T>C c.(166-168)GAT>GAC p.D56D PON1_uc011kih.1_Intron|PON3_uc011kii.1_Silent_p.D56D NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 56 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TAGGAAGTATATCAATATCTT 0.378 PLXNA4 91584 broad.mit.edu 37 7 131872361 131872361 + Silent SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr7:131872361C>T uc003vra.3 - 15 3091 c.2862G>A c.(2860-2862)CTG>CTA p.L954L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 954 IPT/TIG 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTGAGAGAGTCAGTGTCTGTG 0.617 SSPO 23145 broad.mit.edu 37 7 149493732 149493732 + Missense_Mutation SNP G T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr7:149493732G>T uc010lpk.2 + 46 6728 c.6728G>T c.(6727-6729)AGT>ATT p.S2243I NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2243 LDL-receptor class A 8. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCTGTGCCAGTGGTGAGTGT 0.652 WDR67 93594 broad.mit.edu 37 8 124109565 124109565 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr8:124109565C>T uc003ypp.1 + 6 805 c.715C>T c.(715-717)CAT>TAT p.H239Y WDR67_uc011lig.1_Missense_Mutation_p.H239Y|WDR67_uc011lih.1_Missense_Mutation_p.H129Y|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.2_RNA NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 239 WD 4. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AAATCATCTTCATTTGTGGTG 0.398 INPP5E 56623 broad.mit.edu 37 9 139327520 139327520 + Missense_Mutation SNP C G G TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chr9:139327520C>G uc004cho.2 - 5 1552 c.1167G>C c.(1165-1167)GAG>GAC p.E389D INPP5E_uc010nbm.2_Missense_Mutation_p.E389D NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 389 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CCGTGGAGCACTCCACCTCTG 0.627 RLIM 51132 broad.mit.edu 37 X 73811411 73811411 + Missense_Mutation SNP C T T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 184b240c-ebf1-4ecf-87eb-aae0718cd81f 160d43cf-950b-4476-aaec-6d9be41de861 g.chrX:73811411C>T uc004ebu.2 - 5 2029 c.1739G>A c.(1738-1740)GGC>GAC p.G580D RLIM_uc004ebw.2_Missense_Mutation_p.G580D NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 580 RING-type. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AAGTTTGTTGCCTTCTGTATA 0.408