Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut AHDC1 27245 broad.mit.edu 37 1 27874105 27874105 + Missense_Mutation SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:27874105G>C uc009vsy.2 - 6 5491 c.4522C>G c.(4522-4524)CCA>GCA p.P1508A AHDC1_uc009vsz.1_Missense_Mutation_p.P1508A NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1508 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTGGCTGGTGGGCTAGCCAGG 0.711 NA 3 8 0 0 0 0 C1orf103 55791 broad.mit.edu 37 1 111490996 111490996 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:111490996G>A uc001eaa.2 - 4 2151 c.1895C>T c.(1894-1896)GCA>GTA p.A632V C1orf103_uc001dzz.2_Missense_Mutation_p.A96V|C1orf103_uc001eab.2_Missense_Mutation_p.A96V|C1orf103_uc001eac.1_Missense_Mutation_p.A95V NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) ATTAGTTTTTGCTTTTCTTTT 0.343 NA 11 22 0 0 0 0 NBPF7 343505 broad.mit.edu 37 1 120382017 120382017 + Missense_Mutation SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:120382017C>G uc010oxk.1 - 5 1249 c.628G>C c.(628-630)GAG>CAG p.E210Q NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 210 NBPF 1. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TTCTGCTCCTCCCTGATGAGC 0.502 NA 23 158 0 0 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563322 156563322 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:156563322C>T uc001fph.2 + 5 678 c.639C>T c.(637-639)CCC>CCT p.P213P APOA1BP_uc001fpg.2_Silent_p.P213P|APOA1BP_uc001fpi.2_Missense_Mutation_p.H195Y|APOA1BP_uc001fpj.2_Silent_p.P130P|APOA1BP_uc001fpk.2_Silent_p.P110P|APOA1BP_uc010php.1_Silent_p.P110P NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 213 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCACTGTGCCCATTGCCAGCA 0.577 NA 5 46 0 0 0 0 METTL13 51603 broad.mit.edu 37 1 171756952 171756952 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:171756952C>A uc001ghz.2 + 4 1538 c.1191C>A c.(1189-1191)GAC>GAA p.D397E METTL13_uc001gia.2_Missense_Mutation_p.D311E|METTL13_uc001gib.2_Missense_Mutation_p.D241E|METTL13_uc010pml.1_Missense_Mutation_p.D396E NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 397 methyltransferase activity|protein binding kidney(1) 1 TGAGCGGTGACTATGTCATTG 0.552 NA 3 33 0.004672 0.00516058 1 0 C1orf125 126859 broad.mit.edu 37 1 179460728 179460728 + Missense_Mutation SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:179460728T>G uc001gmo.2 + 19 2274 c.2147T>G c.(2146-2148)ATG>AGG p.M716R C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.M716R|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 716 0 CTGATTTTAATGATACCCAAC 0.363 NA 29 57 0 0 0 0 ACTN2 88 broad.mit.edu 37 1 236924422 236924422 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:236924422C>T uc001hyf.2 + 20 2679 c.2475C>T c.(2473-2475)ACC>ACT p.T825T ACTN2_uc001hyg.2_Silent_p.T617T|ACTN2_uc009xgi.1_Silent_p.T825T|ACTN2_uc010pxu.1_Silent_p.T514T|ACTN2_uc001hyh.2_Silent_p.T513T NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 825 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGGCTGACACCGACACTGCCG 0.537 NA 27 34 0 0 0 0 PRKG1 5592 broad.mit.edu 37 10 53564372 53564372 + Missense_Mutation SNP T T A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr10:53564372T>A uc001jjm.2 + 4 769 c.575T>A c.(574-576)ATT>AAT p.I192N PRKG1_uc001jjn.2_Missense_Mutation_p.I207N|PRKG1_uc001jjo.2_Missense_Mutation_p.I207N NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 192 cGMP 1. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTCTGGGCCATTGATCGACAA 0.343 NA 12 36 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 117823944 117823944 + Silent SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr10:117823944G>A uc001lcj.2 - 11 2061 c.1363C>T c.(1363-1365)CTG>TTG p.L455L GFRA1_uc001lci.2_Silent_p.L450L|GFRA1_uc009xyr.2_Silent_p.L450L NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 455 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) AGGGTGGACAGAGCGGTTACC 0.428 NA 12 36 0 0 0 0 OR4C11 219429 broad.mit.edu 37 11 55371281 55371281 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:55371281G>A uc010rii.1 - 1 569 c.569C>T c.(568-570)ACT>ATT p.T190I NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GATCATGTAAGTGTCCATGCA 0.398 NA 60 46 0 0 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67200832 67200832 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:67200832C>T uc001old.2 + 10 902 c.820C>T c.(820-822)CGG>TGG p.R274W RPS6KB2_uc001olf.2_Missense_Mutation_p.R74W|RPS6KB2_uc001olg.2_Missense_Mutation_p.R274W|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R74W|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R105W NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 274 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CGCAGAGAACCGGAAGAAAAC 0.632 NA 11 78 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111652070 111652070 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr12:111652070C>A uc001tsa.1 + 2 283 c.130C>A c.(130-132)CAT>AAT p.H44N CUX2_uc001tsb.1_Missense_Mutation_p.H99N NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 44 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TTCTCATAAACATTTAATTGA 0.363 NA 4 101 0.00024832 0.000287439 1 0 STRC 161497 broad.mit.edu 37 15 43900125 43900126 + Missense_Mutation DNP GT GT TC TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:43900125_43900126GT>TC uc001zsf.2 - 18 3807_3808 c.3729_3730AC>GA c.(3727-3732)GAACCA>GAGACA p.P1244T STRC_uc010bdl.2_Missense_Mutation_p.P471T|STRC_uc001zse.2_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1244 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GTCCATTCTGGTTCTGGCATTG 0.535 NA 22 95 0 0 0 0 SCG3 29106 broad.mit.edu 37 15 51981445 51981445 + Silent SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:51981445A>G uc002abh.2 + 6 978 c.570A>G c.(568-570)GAA>GAG p.E190E SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 190 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) ATACACTGGAAGATGAAGTAG 0.368 NA 25 43 0 0 0 0 ZNF609 23060 broad.mit.edu 37 15 64967739 64967739 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:64967739G>A uc002ann.2 + 4 2686 c.2686G>A c.(2686-2688)GAG>AAG p.E896K NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 896 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCAAGGCTTTGAGAGTTACTA 0.507 NA 5 97 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 64984710 64984710 + Silent SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr16:64984710G>A uc002eoi.2 - 12 2288 c.1854C>T c.(1852-1854)GGC>GGT p.G618G CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.G618G|CDH11_uc010vin.1_Silent_p.G492G NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 618 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGATCAGGGCGCCTGTGCTCA 0.632 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 27 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66974469 66974469 + Silent SNP G G A rs150055059 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr16:66974469G>A uc002eqr.2 + 5 1879 c.879G>A c.(877-879)GCG>GCA p.A293A CES2_uc002eqq.2_Silent_p.A293A|CES2_uc002eqs.2_Silent_p.A136A NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 229 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GCGAGTCTGCGGGTGGCACGA 0.607 NA 35 70 0 0 0 0 KIAA1012 22878 broad.mit.edu 37 18 29432467 29432467 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr18:29432467G>A uc002kxc.3 - 24 3867 c.3503C>T c.(3502-3504)GCG>GTG p.A1168V KIAA1012_uc002kxb.3_Missense_Mutation_p.A1114V|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1168 ER to Golgi vesicle-mediated transport cis-Golgi network 0 CTGTGTGGCCGCTAAAAAACA 0.318 NA 4 186 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9088749 9088749 + Silent SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:9088749G>C uc002mkp.2 - 1 3270 c.3066C>G c.(3064-3066)CTC>CTG p.L1022L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1022 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTCTGTTGTGAGGATGGTTG 0.473 NA 9 144 0 0 0 0 GCDH 2639 broad.mit.edu 37 19 13004312 13004312 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:13004312G>A uc002mvq.2 + 6 427 c.350G>A c.(349-351)GGG>GAG p.G117E GCDH_uc010xms.1_Missense_Mutation_p.G84E|GCDH_uc002mvp.2_Missense_Mutation_p.G117E|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Missense_Mutation_p.G73E NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 117 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 GGCTGTGCTGGGGTTTCGTCT 0.597 NA 25 27 0 0 0 0 CIB3 117286 broad.mit.edu 37 19 16284287 16284287 + Splice_Site SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:16284287G>A uc002nds.2 - 1 1 c.1_splice c.e1-1 p.M1_splice CIB3_uc010eae.2_Splice_Site|CIB3_uc010eaf.2_Splice_Site|CIB3_uc010eag.2_Splice_Site_p.M1_splice NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic calcium ion binding ovary(1) 1 TGTTGCCCATGGTGTGAACCA 0.587 NA 3 86 0 0 0 0 ELL 8178 broad.mit.edu 37 19 18555654 18555654 + Nonsense_Mutation SNP T T A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:18555654T>A uc002njh.2 - 12 1846 c.1774A>T c.(1774-1776)AAG>TAG p.K592* ELL_uc010ebq.2_Nonsense_Mutation_p.K535*|ELL_uc002njg.2_Nonsense_Mutation_p.K459* NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 592 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) CAGCGGTGCTTCTCCTGGCTG 0.642 NA T MLL AL 16 41 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19654666 19654666 + Missense_Mutation SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:19654666T>G uc002nmv.3 + 8 1397 c.1312T>G c.(1312-1314)TGC>GGC p.C438G CILP2_uc002nmw.3_Missense_Mutation_p.C444G NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 438 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CTCCCGCTGCTGCTCTGTGCG 0.682 NA 33 39 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38979817 38979817 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:38979817G>A uc002oit.2 + 35 5678 c.5548G>A c.(5548-5550)GTG>ATG p.V1850M RYR1_uc002oiu.2_Missense_Mutation_p.V1850M NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1850 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) TGTCCTGTAGGTGATGGGCAT 0.443 NA 11 9 0 0 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45716536 45716536 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:45716536G>A uc002pay.1 - 10 1062 c.1021C>T c.(1021-1023)CGG>TGG p.R341W NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 341 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) TCCAGGTCCCGGGCCACGGCC 0.657 NA 9 24 0 0 0 0 ZNF880 400713 broad.mit.edu 37 19 52887785 52887785 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:52887785C>T uc002pzc.2 + 4 1001 c.952C>T c.(952-954)CAT>TAT p.H318Y NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 318 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TCAGAAAATTCATAGTGGAGA 0.413 NA 19 13 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57176313 57176313 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:57176313G>A uc010ygo.1 - 2 320 c.320C>T c.(319-321)GCG>GTG p.A107V ZNF835_uc010ygn.1_Missense_Mutation_p.A85V NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CTCCCCAGGCGCGCTGCACCT 0.647 NA 10 17 0 0 0 0 ASAP2 8853 broad.mit.edu 37 2 9515038 9515038 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr2:9515038G>A uc002qzh.2 + 17 2051 c.1711G>A c.(1711-1713)GAT>AAT p.D571N ASAP2_uc002qzi.2_Missense_Mutation_p.D571N NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 571 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 TGATGGTGTGGATCTTACGGA 0.388 NA 23 39 0 0 0 0 TMEFF2 23671 broad.mit.edu 37 2 192922459 192922459 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr2:192922459G>A uc002utc.2 - 5 876 c.482C>T c.(481-483)ACC>ATC p.T161I NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 161 Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AATATCACAGGTGGATGTCTC 0.378 NA 26 50 0 0 0 0 KIF3B 9371 broad.mit.edu 37 20 30897975 30897975 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr20:30897975G>T uc002wxq.2 + 2 562 c.395G>T c.(394-396)CGA>CTA p.R132L KIF3B_uc010ztv.1_Missense_Mutation_p.R132L|KIF3B_uc010ztw.1_Missense_Mutation_p.R132L NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 132 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CACATCTCTCGATCCCAGAAT 0.463 NA 5 102 1.64e-10 2.05e-10 1 0 MAPK11 5600 broad.mit.edu 37 22 50703752 50703752 + Missense_Mutation SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr22:50703752T>C uc003bkr.2 - 11 1071 c.1013A>G c.(1012-1014)AAG>AGG p.K338R MAPK11_uc010hax.2_Missense_Mutation_p.K160R|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 338 activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATGCTCACCCTTCCACTCCTC 0.637 NA 3 63 0 0 0 0 SACM1L 22908 broad.mit.edu 37 3 45776796 45776796 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:45776796G>A uc003cos.2 + 14 1374 c.1170G>A c.(1168-1170)ATG>ATA p.M390I SACM1L_uc011bag.1_Missense_Mutation_p.M287I|SACM1L_uc011bah.1_Missense_Mutation_p.M324I|SACM1L_uc003cot.2_Missense_Mutation_p.M33I NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 390 SAC. Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GCAATTGCATGGATTGTCTAG 0.408 NA 19 53 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48699612 48699613 + Missense_Mutation DNP AC AC TT TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:48699612_48699613AC>TT uc003cul.2 - 1 736_737 c.455_456GT>AA c.(454-456)AGT>AAA p.S152K CELSR3_uc003cuf.1_Missense_Mutation_p.S222K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 152 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGTGACAGACTACCTCTTTG 0.629 NA 45 85 0 0 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540270 169540270 + Silent SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:169540270C>G uc003fgb.2 + 1 561 c.561C>G c.(559-561)CTC>CTG p.L187L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 187 LRR 7. 0 TCTGTGTTCTCTACACCCTGG 0.488 NA 4 124 0 0 0 0 STIM2 57620 broad.mit.edu 37 4 27003875 27003875 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:27003875C>T uc003gsh.3 + 6 1139 c.923C>T c.(922-924)ACA>ATA p.T308I STIM2_uc003gsg.3_Missense_Mutation_p.T308I|STIM2_uc010iex.2_Missense_Mutation_p.T308I|STIM2_uc010iey.2_5'Flank NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 221 Helical; (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TTTATCCTCACAGTTTCTATA 0.343 NA 3 37 0 0 0 0 TEC 7006 broad.mit.edu 37 4 48169913 48169913 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:48169913C>T uc003gxz.2 - 7 644 c.553G>A c.(553-555)GTA>ATA p.V185I NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 185 SH3. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 TACATGGCTACAACGATTTCT 0.393 NA 6 97 0 0 0 0 GNRHR 2798 broad.mit.edu 37 4 68610290 68610290 + Silent SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:68610290G>A uc003hdn.2 - 2 2489 c.738C>T c.(736-738)CCC>CCT p.P246P LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.P204S NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 246 Cytoplasmic (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) ACATACCGTGGGGGTCCTGAT 0.388 NA 20 26 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73963791 73963791 + Missense_Mutation SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:73963791T>G uc003hgp.2 - 26 5137 c.5020A>C c.(5020-5022)AAA>CAA p.K1674Q ANKRD17_uc003hgo.2_Missense_Mutation_p.K1561Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.K1423Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.K1673Q NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1674 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAACTAACTTTATTGAAGCC 0.333 NA 28 50 0 0 0 0 SMARCA5 8467 broad.mit.edu 37 4 144467996 144467996 + Missense_Mutation SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:144467996A>G uc003ijg.2 + 20 3050 c.2588A>G c.(2587-2589)GAT>GGT p.D863G NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 863 SANT 1. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TGGGGTCGTGATGATATTGAA 0.338 NA 15 31 0 0 0 0 TRIM2 23321 broad.mit.edu 37 4 154249705 154249705 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:154249705C>T uc003ing.2 + 11 2166 c.1965C>T c.(1963-1965)TTC>TTT p.F655F TRIM2_uc003inh.2_Silent_p.F682F NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 655 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AAGGAGAATTCATGTTGAAGT 0.343 NA 15 30 0 0 0 0 ZNF608 57507 broad.mit.edu 37 5 123977043 123977043 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:123977043C>T uc003ktq.1 - 7 4475 c.4352G>A c.(4351-4353)CGC>CAC p.R1451H ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.R146H NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1451 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGGGGAGTGGCGATCCCTTTC 0.557 NA 4 76 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788902 140788902 + Missense_Mutation SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:140788902G>C uc003lkj.1 + 1 1133 c.1133G>C c.(1132-1134)GGA>GCA p.G378A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.G378A NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 378 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATTTCGGAGGAAATGGAGAA 0.413 NA 19 21 0 0 0 0 NMUR2 56923 broad.mit.edu 37 5 151784417 151784417 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:151784417G>T uc003luv.2 - 1 424 c.258C>A c.(256-258)AGC>AGA p.S86R NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 86 Helical; Name=2; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGACCGCCAGGCTGAAGAGGT 0.572 NA 30 68 2e-19 2.52e-19 1 0 DSP 1832 broad.mit.edu 37 6 7571657 7571657 + Silent SNP C C T rs139095230 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:7571657C>T uc003mxp.1 + 14 2022 c.1743C>T c.(1741-1743)GCC>GCT p.A581A DSP_uc003mxq.1_Silent_p.A581A NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 581 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGACGATAGCCGACCTTGAGT 0.443 NA 6 237 0 0 0 0 IP6K3 117283 broad.mit.edu 37 6 33690555 33690555 + Missense_Mutation SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:33690555T>C uc010jvf.2 - 7 1711 c.1175A>G c.(1174-1176)TAT>TGT p.Y392C IP6K3_uc003ofb.2_Missense_Mutation_p.Y392C NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 392 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 GCCAAAAATATAGCCAGGGTC 0.483 NA 29 82 0 0 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862866 84862866 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:84862866C>A uc010kbp.2 - 23 3124 c.3027G>T c.(3025-3027)GAG>GAT p.E1009D KIAA1009_uc003pkj.3_Missense_Mutation_p.E933D|KIAA1009_uc003pki.3_Missense_Mutation_p.E395D NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 1009 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CAAGTAGCTGCTCCTGCTGCT 0.428 NA 5 14 0.00116845 0.00133424 1 0 ZNF292 23036 broad.mit.edu 37 6 87968193 87968193 + Missense_Mutation SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:87968193A>G uc003plm.3 + 8 4887 c.4846A>G c.(4846-4848)AGA>GGA p.R1616G NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TCAGAACACAAGATCCAGTCA 0.393 NA 7 21 0 0 0 0 FRK 2444 broad.mit.edu 37 6 116288718 116288718 + Silent SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:116288718T>C uc003pwi.1 - 4 1242 c.795A>G c.(793-795)AAA>AAG p.K265K NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 265 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TCGCACCTGGTTTTAATGTTT 0.403 NA 9 126 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 145093097 145093097 + Silent SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:145093097A>G uc003qkt.2 + 58 8642 c.8550A>G c.(8548-8550)CAA>CAG p.Q2850Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2850 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTCTTTCAATCCCTTGGTA 0.249 NA 17 44 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157502235 157502235 + Missense_Mutation SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:157502235C>G uc003qqn.2 + 12 3366 c.3214C>G c.(3214-3216)CTG>GTG p.L1072V ARID1B_uc003qqo.2_Missense_Mutation_p.L1032V|ARID1B_uc003qqp.2_Missense_Mutation_p.L1019V|ARID1B_uc010kjl.2_Missense_Mutation_p.L217V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1077 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGTCTCAAGTCTGCCTGCCGT 0.577 NA 7 21 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100677648 100677648 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr7:100677648C>A uc003uxp.1 + 3 3004 c.2951C>A c.(2950-2952)CCA>CAA p.P984Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 984 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACGACTCCATTAACAAGC 0.507 NA 92 160 1.01e-35 1.29e-35 1 0 OR2A14 135941 broad.mit.edu 37 7 143826964 143826964 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr7:143826964C>T uc011kua.1 + 1 759 c.759C>T c.(757-759)AGC>AGT p.S253S NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TCTTTGGCAGCGCCATTGTCA 0.577 NA 4 136 0 0 0 0 PDGFRL 5157 broad.mit.edu 37 8 17478590 17478590 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:17478590G>T uc003wxr.2 + 3 445 c.384G>T c.(382-384)TTG>TTT p.L128F NM_006207 NP_006198 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 128 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity 0 Colorectal(111;0.0752) ACGGCCAGTTGACTCTGGTCA 0.567 NA 13 35 1.05e-09 1.31e-09 1 0 POLR3D 661 broad.mit.edu 37 8 22107661 22107661 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:22107661G>A uc003xbl.2 + 8 1078 c.995G>A c.(994-996)CGC>CAC p.R332H POLR3D_uc003xbm.2_Missense_Mutation_p.R332H|POLR3D_uc011kze.1_RNA NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 332 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTACTCATCCGCAAGTCTGGA 0.562 NA 4 56 0 0 0 0 CHRNA2 1135 broad.mit.edu 37 8 27327422 27327422 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:27327422C>T uc010lur.2 - 3 759 c.150G>A c.(148-150)CCG>CCA p.P50P CHRNA2_uc011lal.1_Silent_p.P50P|CHRNA2_uc010lus.2_5'UTR NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 50 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCCTCCCTGCGGCAATGCCG 0.612 NA 5 84 0 0 0 0 LRRC67 286187 broad.mit.edu 37 8 67929968 67929968 + Silent SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:67929968G>T uc003xxc.2 - 2 160 c.15C>A c.(13-15)ACC>ACA p.T5T NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 5 0 TTAGATCCAAGGTCAGTCGAA 0.338 NA 14 56 0.000219431 0.000257527 1 0 FABP4 2167 broad.mit.edu 37 8 82392828 82392828 + Missense_Mutation SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:82392828C>G uc003ycd.2 - 2 150 c.79G>C c.(79-81)GGC>CGC p.G27R NM_001442 NP_001433 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 27 Nuclear localization signal (By similarity). triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(1) 1 Epithelial(68;0.213) GTGGCAAAGCCCACTCCTACA 0.423 NA 3 54 0 0 0 0 SYBU 55638 broad.mit.edu 37 8 110587412 110587412 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:110587412C>T uc003ynj.3 - 7 1878 c.1715G>A c.(1714-1716)CGC>CAC p.R572H SYBU_uc003yni.3_Missense_Mutation_p.R569H|SYBU_uc003ynk.3_Missense_Mutation_p.R453H|SYBU_uc010mco.2_Missense_Mutation_p.R571H|SYBU_uc003ynl.3_Missense_Mutation_p.R571H|SYBU_uc010mcp.2_Missense_Mutation_p.R572H|SYBU_uc010mcq.2_Missense_Mutation_p.R572H|SYBU_uc003yno.3_Missense_Mutation_p.R453H|SYBU_uc010mcr.2_Missense_Mutation_p.R572H|SYBU_uc003ynm.3_Missense_Mutation_p.R571H|SYBU_uc003ynn.3_Missense_Mutation_p.R571H|SYBU_uc010mcs.2_Missense_Mutation_p.R453H|SYBU_uc010mct.2_Missense_Mutation_p.R572H|SYBU_uc010mcu.2_Missense_Mutation_p.R571H|SYBU_uc003ynp.3_Missense_Mutation_p.R504H|SYBU_uc010mcv.2_Missense_Mutation_p.R572H|SYBU_uc003ynh.3_Missense_Mutation_p.R366H|SYBU_uc011lhw.1_Missense_Mutation_p.R442H NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 572 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TCTCATGAGGCGGTTTGCATG 0.542 NA 19 37 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113933928 113933928 + Missense_Mutation SNP C C T rs140758499 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:113933928C>T uc003ynu.2 - 10 1720 c.1561G>A c.(1561-1563)GCA>ACA p.A521T CSMD3_uc003ynt.2_Missense_Mutation_p.A481T|CSMD3_uc011lhx.1_Missense_Mutation_p.A417T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 521 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATGCTCTTTGCGCCCTGTAGG 0.383 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 53 0 0 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144295190 144295190 + Silent SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:144295190G>T uc003yxu.1 + 1 123 c.48G>T c.(46-48)CGG>CGT p.R16R NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 16 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGTGCGGGCGGCCAGGTGCGG 0.672 NA 3 23 0.00909568 0.00985365 1 0 ZNF658 26149 broad.mit.edu 37 9 40774007 40774007 + Nonsense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:40774007G>T uc004abs.2 - 5 1420 c.1268C>A c.(1267-1269)TCA>TAA p.S423* ZNF658_uc010mmm.1_Nonsense_Mutation_p.S423*|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S423* NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 423 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATGTGAACTTGAACAAAAGGA 0.398 NA 6 181 0.00116845 0.00133424 1 0 ABCA1 19 broad.mit.edu 37 9 107593339 107593339 + Missense_Mutation SNP G G A rs2853574 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:107593339G>A uc004bcl.2 - 14 2072 c.1759C>T c.(1759-1761)CGG>TGG p.R587W NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 587 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGACGTACCGCATGTCCTCA 0.502 NA 4 94 0 0 0 0 UAP1L1 91373 broad.mit.edu 37 9 139974547 139974547 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:139974547C>T uc010ncb.2 + 6 1163 c.1131C>T c.(1129-1131)AAC>AAT p.N377N UAP1L1_uc004cla.3_Silent_p.N254N NM_207309 NP_997192 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 377 nucleotidyltransferase activity ovary(1) 1 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TAAAACCGAACGGGATAAAGA 0.473 NA 51 59 0 0 0 0 CXorf22 170063 broad.mit.edu 37 X 35938046 35938046 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:35938046C>T uc004ddj.2 + 1 189 c.130C>T c.(130-132)CCG>TCG p.P44S CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 44 large_intestine(1)|lung(1)|ovary(1) 3 GCGGGTGATCCCGGCTGAGGT 0.562 NA 5 5 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70613166 70613166 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:70613166C>T uc004dzu.3 + 21 3115 c.3064C>T c.(3064-3066)CGC>TGC p.R1022C BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1043C|TAF1_uc004dzv.3_Missense_Mutation_p.R196C NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1022 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AAAGTTGTCCCGCTGGGAAGT 0.323 NA 24 12 0 0 0 0 GPC3 2719 broad.mit.edu 37 X 132826430 132826430 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:132826430G>A uc004exe.1 - 5 1449 c.1259C>T c.(1258-1260)ACC>ATC p.T420I GPC3_uc004exd.1_Missense_Mutation_p.T292I|GPC3_uc010nrn.1_Missense_Mutation_p.T443I|GPC3_uc011mvh.1_Missense_Mutation_p.T404I|GPC3_uc010nro.1_Missense_Mutation_p.T366I|GPC3_uc010nrp.1_Missense_Mutation_p.T292I NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 420 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CCAGCAAAGGGTGTCGTTTTC 0.388 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 25 10 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994302 140994302 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:140994302C>T uc004fbt.2 + 4 1398 c.1112C>T c.(1111-1113)TCT>TTT p.S371F MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 371 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCCAGTCTCCTCTCCAG 0.478 NA HNSCC(15;0.026) 22 72 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94046720 94046721 + Frame_Shift_Del DEL GT GT - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr14:94046720_94046721delGT uc001ybv.1 + 16 2211_2212 c.2128_2129delGT c.(2128-2130)GTGfs p.V710fs KIAA1409_uc001ybs.1_Frame_Shift_Del_p.V710fs NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 887 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAGCCGGCTGGTGGTAAGCAGT 0.441 NA 13 34 --- --- --- --- NA NA NA NA KCNH6 81033 broad.mit.edu 37 17 61601637 61601645 + In_Frame_Del DEL CCCAACACA CCCAACACA - rs143633824 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr17:61601637_61601645delCCCAACACA uc002jay.2 + 2 294_302 c.214_222delCCCAACACA c.(214-222)CCCAACACAdel p.PNT72del KCNH6_uc002jax.1_In_Frame_Del_p.PNT72del|KCNH6_uc010wpl.1_Intron|KCNH6_uc010wpm.1_In_Frame_Del_p.PNT72del|KCNH6_uc002jaz.1_In_Frame_Del_p.PNT72del NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 72_74 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCTCACAGGCCCCAACACACCAAGCAGCG 0.612 NA 24 83 --- --- --- --- NA NA NA NA CILP2 148113 broad.mit.edu 37 19 19654650 19654659 + Frame_Shift_Del DEL CGCCAGCTCC CGCCAGCTCC - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:19654650_19654659delCGCCAGCTCC uc002nmv.3 + 8 1381_1390 c.1296_1305delCGCCAGCTCC c.(1294-1305)GACGCCAGCTCCfs p.D432fs CILP2_uc002nmw.3_Frame_Shift_Del_p.D438fs NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 432_435 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GCTGCGGGGACGCCAGCTCCCGCTGCTGCT 0.671 NA 32 59 --- --- --- --- NA NA NA NA TDRD7 23424 broad.mit.edu 37 9 100222899 100222899 + Frame_Shift_Del DEL A A - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:100222899delA uc004axj.2 + 7 1520 c.1295delA c.(1294-1296)CAAfs p.Q432fs TDRD7_uc011lux.1_Frame_Shift_Del_p.Q358fs NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 432 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) ATGGTTGAACAAGAGTATTTG 0.408 NA 27 91 --- --- --- --- NA NA NA NA