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 PRDM16 63976 broad.mit.edu 37 1 3322204 3322204 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:3322204C>T uc001akf.2 + 8 1258 c.1178C>T c.(1177-1179)CCT>CTT p.P393L PRDM16_uc001akc.2_Missense_Mutation_p.P393L|PRDM16_uc001akd.2_Missense_Mutation_p.P393L|PRDM16_uc001ake.2_Missense_Mutation_p.P393L|PRDM16_uc009vlh.2_Missense_Mutation_p.P94L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 393 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACGGTGAAGCCTTTCATATGT 0.701 NA T EVI1 MDS|AML 14 76 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10719786 10719786 + Missense_Mutation SNP A A T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:10719786A>T uc001aro.2 - 6 1633 c.1313T>A c.(1312-1314)ATC>AAC p.I438N CASZ1_uc001arp.1_Missense_Mutation_p.I438N|CASZ1_uc009vmx.2_Missense_Mutation_p.I462N|CASZ1_uc001arq.1_Missense_Mutation_p.I297N NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCCCGTGGTGATGGAGTCTGT 0.632 NA 13 60 0 0 0 0 RPF1 80135 broad.mit.edu 37 1 84946675 84946675 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:84946675A>G uc001djv.3 + 2 310 c.265A>G c.(265-267)AGA>GGA p.R89G NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 89 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 TAAAAAAGAAAGAGAGGCTCT 0.303 NA 29 35 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103480090 103480090 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:103480090G>C uc001dul.2 - 13 1867 c.1549C>G c.(1549-1551)CAA>GAA p.Q517E COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.Q529E|COL11A1_uc001dun.2_Missense_Mutation_p.Q478E|COL11A1_uc009weh.2_Missense_Mutation_p.Q401E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 517 Telopeptide. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGAATAGCTTGAGCCTGAGCT 0.418 NA 8 31 0 0 0 0 RPTN 126638 broad.mit.edu 37 1 152128471 152128471 + Missense_Mutation SNP A A T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:152128471A>T uc001ezs.1 - 3 1169 c.1104T>A c.(1102-1104)AGT>AGA p.S368R NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 368 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TGTTTGGTTGACTGTAGTGGG 0.463 NA 151 749 0 0 0 0 NUP210L 91181 broad.mit.edu 37 1 154029336 154029336 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:154029336C>T uc001fdw.2 - 23 3267 c.3195G>A c.(3193-3195)AAG>AAA p.K1065K NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.K1065K NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1065 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCATCTTGTCCTTGGCAATAG 0.388 NA 6 66 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157557696 157557696 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:157557696T>A uc001fqw.2 - 4 657 c.521A>T c.(520-522)AAT>ATT p.N174I FCRL4_uc010phy.1_Intron NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 174 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AAATACATCATTCTCGTCTCC 0.318 NA 6 19 0 0 0 0 KIRREL 55243 broad.mit.edu 37 1 158046036 158046036 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:158046036G>C uc001frn.3 + 2 590 c.186G>C c.(184-186)ATG>ATC p.M62I KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_Missense_Mutation_p.M1I NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 62 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCCTGGGCATGGGCCAGGGCC 0.602 NA 40 98 0 0 0 0 USP21 27005 broad.mit.edu 37 1 161130531 161130531 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:161130531G>A uc010pke.1 + 3 478 c.101G>A c.(100-102)CGC>CAC p.R34H USP21_uc010pkc.1_Missense_Mutation_p.R34H|USP21_uc010pkd.1_Missense_Mutation_p.R34H|USP21_uc010pkf.1_Missense_Mutation_p.R34H NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 34 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCCAGGGCCCGCAGCAAGGAG 0.632 NA 43 88 0 0 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204403072 204403072 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:204403072C>T uc001haw.2 - 26 4171 c.3692G>A c.(3691-3693)CGT>CAT p.R1231H PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1203H NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1231 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) AAAGGGGGCACGGTCCCTGAG 0.557 NA 8 62 0 0 0 0 MTR 4548 broad.mit.edu 37 1 237060420 237060420 + Splice_Site SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:237060420T>C uc001hyi.3 + 32 4134 c.3711_splice c.e32+2 p.Q1237_splice MTR_uc010pxw.1_Splice_Site_p.Q830_splice|MTR_uc010pxx.1_Splice_Site_p.Q1186_splice|MTR_uc010pxy.1_Splice_Site_p.Q1091_splice NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AAGGATCAGGTAAGCTAGCTG 0.403 NA 19 99 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29824982 29824982 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr10:29824982G>C uc001iut.1 - 7 1597 c.844C>G c.(844-846)CAT>GAT p.H282D SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.H282D NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 282 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AACCACTCATGTTTGGGTTTC 0.433 NA OREG0020098 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 49 0 0 0 0 BLNK 29760 broad.mit.edu 37 10 97976475 97976475 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr10:97976475G>T uc001kls.3 - 7 719 c.541C>A c.(541-543)CCC>ACC p.P181T BLNK_uc001kme.3_Missense_Mutation_p.P99T|BLNK_uc001klt.3_Missense_Mutation_p.P95T|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.P99T|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.P181T|BLNK_uc001kly.3_Missense_Mutation_p.P181T|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.P181T|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.P99T|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 181 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TCTTCCACGGGGACCACATAA 0.368 NA 8 27 0.000157383 0.000282733 1 0 SEMA4G 57715 broad.mit.edu 37 10 102740948 102740948 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr10:102740948A>G uc001krw.1 + 13 2051 c.1667A>G c.(1666-1668)GAG>GGG p.E556G SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Missense_Mutation_p.E556G|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 551 Extracellular (Potential).|PSI. cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CAGGACATAGAGAGAGGAAAT 0.483 NA 7 56 0 0 0 0 KCNQ1 3784 broad.mit.edu 37 11 2594162 2594162 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:2594162C>T uc001lwn.2 + 6 975 c.867C>T c.(865-867)AAC>AAT p.N289N KCNQ1_uc009ydp.1_Silent_p.N73N|KCNQ1_uc001lwo.2_Silent_p.N162N NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 289 Extracellular (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) ACGCGGTGAACGAGTCAGGCC 0.597 NA 15 19 0 0 0 0 OR5M9 390162 broad.mit.edu 37 11 56230205 56230205 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:56230205G>A uc010rjj.1 - 1 673 c.673C>T c.(673-675)CGC>TGC p.R225C NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GAGCGCATGCGTAGCACAGCT 0.478 NA 7 10 0 0 0 0 MUS81 80198 broad.mit.edu 37 11 65631092 65631092 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:65631092G>C uc001ofv.3 + 9 1214 c.861G>C c.(859-861)CTG>CTC p.L287L MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 287 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) GGCCGGAGCTGCTCCGAGAGC 0.632 NA Homologous_recombination 3 28 0 0 0 0 DPP3 10072 broad.mit.edu 37 11 66262860 66262860 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:66262860G>C uc001oig.1 + 14 1539 c.1477G>C c.(1477-1479)GAG>CAG p.E493Q DPP3_uc001oif.1_Missense_Mutation_p.E493Q|DPP3_uc010rpe.1_Missense_Mutation_p.E482Q|DPP3_uc001oih.1_5'Flank NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 493 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TCGGAGCGGGGAGACCTGGGA 0.622 NA 4 27 0 0 0 0 ACTN3 89 broad.mit.edu 37 11 66326764 66326764 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:66326764G>T uc001oio.1 + 12 1352 c.1334G>T c.(1333-1335)CGG>CTG p.R445L ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 445 Spectrin 2. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 CAGGAGGTGCGGGCGTTGCTG 0.647 NA 9 44 1.77e-08 3.36e-08 1 0 PC 5091 broad.mit.edu 37 11 66617734 66617734 + Missense_Mutation SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:66617734T>C uc001ojn.1 - 17 2724 c.2675A>G c.(2674-2676)AAG>AGG p.K892R PC_uc001ojo.1_Missense_Mutation_p.K892R|PC_uc001ojp.1_Missense_Mutation_p.K892R|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 892 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CACATAGGCCTTCTTGACCTC 0.602 NA 11 41 0 0 0 0 CHKA 1119 broad.mit.edu 37 11 67821473 67821473 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:67821473C>T uc001onj.2 - 12 1570 c.1356G>A c.(1354-1356)AAG>AAA p.K452K CHKA_uc001onk.2_Silent_p.K434K NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 452 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) CAAGCTTCCTCTTCTGGTGGA 0.577 NA 5 16 0 0 0 0 VPS11 55823 broad.mit.edu 37 11 118938701 118938701 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr11:118938701G>A uc010ryx.1 + 1 209 c.167G>A c.(166-168)CGA>CAA p.R56Q VPS11_uc010ryy.1_5'UTR NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 56 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GACTCAGGCCGAGGGAGCCTG 0.577 NA 4 10 0 0 0 0 ERC1 23085 broad.mit.edu 37 12 1289706 1289706 + Missense_Mutation SNP A A C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:1289706A>C uc001qjb.2 + 9 1979 c.1738A>C c.(1738-1740)ATT>CTT p.I580L ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.I552L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.I580L|ERC1_uc010sdv.1_Missense_Mutation_p.I328L|ERC1_uc009zdp.2_Missense_Mutation_p.I220L NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 580 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GTACATTTAGATTGAAAATCT 0.368 NA 17 32 0 0 0 0 GDF3 9573 broad.mit.edu 37 12 7843292 7843292 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:7843292G>T uc001qte.2 - 2 313 c.277C>A c.(277-279)CTT>ATT p.L93I NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 93 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 TTTGGGTAAAGAAAGAAACCT 0.403 NA 28 56 4.88e-14 9.43e-14 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20876088 20876088 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:20876088C>A uc001rej.3 + 10 1441 c.1086C>A c.(1084-1086)AGC>AGA p.S362R SLCO1C1_uc010sii.1_Missense_Mutation_p.S362R|SLCO1C1_uc010sij.1_Missense_Mutation_p.S313R|SLCO1C1_uc009zip.2_Missense_Mutation_p.S196R|SLCO1C1_uc001rei.2_Missense_Mutation_p.S362R|SLCO1C1_uc010sik.1_Missense_Mutation_p.S244R NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 362 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TATGTACAAGCACTGTTCAGT 0.378 NA 28 71 4.88e-14 9.43e-14 1 0 SLC38A1 81539 broad.mit.edu 37 12 46592498 46592498 + Silent SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:46592498T>C uc001rpa.2 - 14 1290 c.1032A>G c.(1030-1032)AAA>AAG p.K344K SLC38A1_uc001rpb.2_Silent_p.K344K|SLC38A1_uc001rpc.2_Silent_p.K344K|SLC38A1_uc001rpd.2_Silent_p.K344K|SLC38A1_uc001rpe.2_Silent_p.K344K|SLC38A1_uc009zkj.1_Silent_p.K344K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 344 Extracellular (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TACTCTGATATTTGTGAAGGA 0.428 NA 16 42 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52200796 52200796 + Silent SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:52200796C>A uc001ryw.2 + 27 5704 c.5526C>A c.(5524-5526)ATC>ATA p.I1842I uc001rzb.1_5'Flank NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1842 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGGATCGCATCCACTGCTTGG 0.567 NA 43 110 7.63e-17 1.49e-16 1 0 CALCOCO1 57658 broad.mit.edu 37 12 54106918 54106918 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:54106918G>C uc001sef.2 - 14 2008 c.1864C>G c.(1864-1866)CCT>GCT p.P622A CALCOCO1_uc001see.2_Missense_Mutation_p.P123A|CALCOCO1_uc010som.1_Missense_Mutation_p.P537A|CALCOCO1_uc010son.1_Missense_Mutation_p.P499A|CALCOCO1_uc001seh.2_Missense_Mutation_p.P622A|CALCOCO1_uc009znd.2_Missense_Mutation_p.P621A|CALCOCO1_uc001seg.2_Missense_Mutation_p.P447A NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 622 C-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CCCAGTTCAGGAAGCAGTAAG 0.577 NA 31 69 0 0 0 0 OR6C70 390327 broad.mit.edu 37 12 55863389 55863389 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:55863389G>A uc010spn.1 - 1 534 c.534C>T c.(532-534)GAC>GAT p.D178D NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAAGAGAAATGTCACAAATGA 0.348 NA 32 94 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57592066 57592066 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:57592066C>T uc001snd.2 + 59 9876 c.9410C>T c.(9409-9411)ACG>ATG p.T3137M NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3137 LDL-receptor class B 27.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCTATCGGACGGTGCTGGTC 0.637 NA 11 32 0 0 0 0 CPSF6 11052 broad.mit.edu 37 12 69656338 69656338 + Nonstop_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:69656338A>G uc001sut.3 + 9 1765 c.1655A>G c.(1654-1656)TAG>TGG p.*552W CPSF6_uc001suu.3_Nonstop_Mutation_p.*589W|CPSF6_uc010stk.1_Nonstop_Mutation_p.*184W NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 552 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CGTCATCGTTAGAAGGTGGGT 0.313 NA 6 33 0 0 0 0 VEZT 55591 broad.mit.edu 37 12 95694417 95694417 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:95694417G>C uc001tdz.2 + 12 2413 c.2308G>C c.(2308-2310)GAA>CAA p.E770Q VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.E135Q|VEZT_uc001tdy.2_RNA NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 770 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 ACAAATAATAGAAGAAAATAA 0.383 NA 3 32 0 0 0 0 NAA25 80018 broad.mit.edu 37 12 112518864 112518864 + Missense_Mutation SNP T T G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:112518864T>G uc001ttm.2 - 5 497 c.477A>C c.(475-477)CAA>CAC p.Q159H NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Q131H|NAA25_uc009zwa.1_Missense_Mutation_p.Q159H NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 159 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CCATACTCACTTGCATAATTA 0.323 NA 35 157 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125397805 125397805 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr12:125397805G>C uc001ugs.3 - 2 961 c.513C>G c.(511-513)CCC>CCG p.P171P UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.P171P|UBC_uc001ugt.2_Silent_p.P171P|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.P19P NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 171 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGGTGTCACTGGGCTCCACCT 0.517 NA 4 84 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46716545 46716545 + Missense_Mutation SNP A A C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr13:46716545A>C uc001vaz.3 - 13 1510 c.1384T>G c.(1384-1386)TAC>GAC p.Y462D LCP1_uc010ack.2_Missense_Mutation_p.Y31D|LCP1_uc001vay.3_Missense_Mutation_p.Y59D|LCP1_uc001vba.3_Missense_Mutation_p.Y462D NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 462 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCTACCGCGTAGTTACAATTC 0.373 NA T BCL6 NHL 10 28 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70535472 70535472 + Missense_Mutation SNP G G A rs139916031 TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr13:70535472G>A uc001vip.2 - 3 1579 c.785C>T c.(784-786)GCT>GTT p.A262V KLHL1_uc010thm.1_Missense_Mutation_p.A201V NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 262 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTCCCAGAGAGCATTGGGGTC 0.388 NA 18 33 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77742684 77742684 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr13:77742684G>C uc001vkf.2 - 41 5970 c.5879C>G c.(5878-5880)TCG>TGG p.S1960W MYCBP2_uc010aev.2_Missense_Mutation_p.S1364W NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1960 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTATCTGTCGACTGATTAGG 0.493 NA 18 72 0 0 0 0 CTAGE5 4253 broad.mit.edu 37 14 39769088 39769088 + Silent SNP A A T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr14:39769088A>T uc001wvg.3 + 9 1029 c.693A>T c.(691-693)GTA>GTT p.V231V CTAGE5_uc010tqe.1_Silent_p.V193V|CTAGE5_uc001wuz.3_Silent_p.V219V|CTAGE5_uc001wuy.3_Silent_p.V151V|CTAGE5_uc001wvb.3_Silent_p.V202V|CTAGE5_uc001wvc.3_Silent_p.V176V|CTAGE5_uc001wva.3_Silent_p.V202V|CTAGE5_uc001wve.1_Silent_p.V207V|CTAGE5_uc001wvh.3_Silent_p.V231V|CTAGE5_uc001wvf.3_Silent_p.V156V|CTAGE5_uc001wvi.3_Silent_p.V236V|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Silent_p.V202V NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 231 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AAGCTGAAGTATGGAAAGAAC 0.318 NA 8 75 0 0 0 0 PRKCH 5583 broad.mit.edu 37 14 61997130 61997130 + Silent SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr14:61997130C>A uc001xfn.2 + 12 1883 c.1578C>A c.(1576-1578)CTC>CTA p.L526L PRKCH_uc010tsa.1_Silent_p.L365L|PRKCH_uc010tsb.1_Silent_p.L94L NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 526 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) CACAGATCCTCCAGGAAATGC 0.483 NA 30 138 3.99e-17 7.85e-17 1 0 RGS6 9628 broad.mit.edu 37 14 72925015 72925015 + Missense_Mutation SNP A A C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr14:72925015A>C uc001xna.3 + 5 795 c.272A>C c.(271-273)CAG>CCG p.Q91P RGS6_uc010ttn.1_Missense_Mutation_p.Q91P|RGS6_uc001xmx.3_Missense_Mutation_p.Q91P|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.Q91P|RGS6_uc010ttp.1_Missense_Mutation_p.Q22P|RGS6_uc001xmz.1_5'Flank|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 91 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) ATCGCTGCCCAGGGCTACATC 0.458 NA 26 53 0 0 0 0 TECPR2 9895 broad.mit.edu 37 14 102931608 102931608 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr14:102931608G>C uc001ylw.1 + 17 3919 c.3771G>C c.(3769-3771)ATG>ATC p.M1257I TECPR2_uc010awl.2_Missense_Mutation_p.M1257I|TECPR2_uc010txx.1_Missense_Mutation_p.M420I NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1257 TECPR 4. protein binding lung(1)|central_nervous_system(1)|skin(1) 3 CCTGGATAATGATTGAGCCAC 0.502 NA 13 45 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33955093 33955093 + Nonsense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr15:33955093G>T uc001zhi.2 + 35 5432 c.5362G>T c.(5362-5364)GAG>TAG p.E1788* RYR3_uc010bar.2_Nonsense_Mutation_p.E1788* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1788 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGCCGGCAAGGAGGCTCCTGT 0.562 NA 29 179 1.31e-18 2.59e-18 1 0 HERC1 8925 broad.mit.edu 37 15 63904544 63904544 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr15:63904544C>T uc002amp.2 - 77 14454 c.14306G>A c.(14305-14307)CGG>CAG p.R4769Q HERC1_uc002amo.2_5'Flank NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4769 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GAAAAGCACCCGCTCCTCATT 0.493 NA 6 44 0 0 0 0 ISL2 64843 broad.mit.edu 37 15 76629267 76629267 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr15:76629267G>A uc002bbw.1 + 1 121 c.43G>A c.(43-45)GGT>AGT p.G15S NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGGTGCTATGGGTGATCATTC 0.443 NA 52 330 0 0 0 0 SRRM2 23524 broad.mit.edu 37 16 2817671 2817671 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:2817671C>G uc002crk.2 + 11 7691 c.7142C>G c.(7141-7143)ACC>AGC p.T2381S SRRM2_uc002crj.1_Missense_Mutation_p.T2285S|SRRM2_uc002crl.1_Missense_Mutation_p.T2381S|SRRM2_uc010bsu.1_Missense_Mutation_p.T2285S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2381 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GCAAACCTCACCAGCCCCAGG 0.632 NA 34 87 0 0 0 0 C16orf88 400506 broad.mit.edu 37 16 19718478 19718478 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:19718478G>C uc002dgq.2 - 5 1146 c.1131C>G c.(1129-1131)CTC>CTG p.L377L NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 377 Interaction with ZFP106 (By similarity). nucleolus 0 CCATAAGTCTGAGAAATTTCA 0.532 NA 25 61 0 0 0 0 XPO6 23214 broad.mit.edu 37 16 28167615 28167615 + Missense_Mutation SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:28167615T>C uc002dpa.1 - 7 1378 c.877A>G c.(877-879)AAC>GAC p.N293D XPO6_uc002dpb.1_Missense_Mutation_p.N279D|XPO6_uc010vcp.1_Missense_Mutation_p.N293D NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 293 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 CTGCTGCCGTTAACTGACGCC 0.577 NA 29 67 0 0 0 0 APOB48R 55911 broad.mit.edu 37 16 28508717 28508717 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:28508717G>C uc002dqb.1 + 3 2338 c.2328G>C c.(2326-2328)GTG>GTC p.V776V uc010vct.1_Intron|APOB48R_uc010byg.1_Silent_p.V314V NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 776 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 TGGAAGGGGTGCTTGGGCAAG 0.587 NA 11 24 0 0 0 0 SIAH1 6477 broad.mit.edu 37 16 48395697 48395697 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:48395697G>A uc002efo.1 - 2 760 c.643C>T c.(643-645)CGC>TGC p.R215C uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.R246C NM_003031 NP_003022 Q8IUQ4 SIAH1_HUMAN seven in absentia homolog 1 isoform a 215 SBD. TR->AA: In mutant D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-231 and A-232. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) GCTTGCTTGCGTGTTCCTATC 0.443 NA 14 66 0 0 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416529 57416529 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:57416529T>A uc002eli.2 + 3 846 c.779T>A c.(778-780)CTG>CAG p.L260Q NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 260 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GAGAACTCTCTGGAGCGGGAG 0.667 NA 22 44 0 0 0 0 COG4 25839 broad.mit.edu 37 16 70551611 70551611 + Missense_Mutation SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:70551611T>C uc002ezc.2 - 3 298 c.287A>G c.(286-288)AAG>AGG p.K96R COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.K96R|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 92 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) AGCCAGCTGCTTTGCATCTCC 0.443 NA 32 62 0 0 0 0 FBXO31 79791 broad.mit.edu 37 16 87365007 87365007 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:87365007G>C uc002fjw.2 - 9 1551 c.1507C>G c.(1507-1509)CTG>GTG p.L503V FBXO31_uc010vot.1_Missense_Mutation_p.L331V|FBXO31_uc002fjv.2_Missense_Mutation_p.L395V NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 503 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) AAGGATTTCAGCTCCAGCCAG 0.622 NA 13 24 0 0 0 0 ATP1B2 482 broad.mit.edu 37 17 7557506 7557506 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr17:7557506C>T uc002gif.1 + 4 1066 c.483C>T c.(481-483)TCC>TCT p.S161S NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 161 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GCAACTGCTCCGGCATTGGGG 0.562 NA 149 122 0 0 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16875383 16875383 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr17:16875383C>A uc002gqs.1 - 1 20 c.7G>T c.(7-9)GGC>TGC p.G3C TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.G3C|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.G3C NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 3 Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 CGGCCCAGGCCACTCATTACT 0.582 NA IgA_Deficiency_Selective 13 43 9.31e-06 1.7e-05 1 0 NFE2L1 4779 broad.mit.edu 37 17 46128746 46128746 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr17:46128746C>A uc002imz.3 + 2 917 c.266C>A c.(265-267)GCC>GAC p.A89D NFE2L1_uc002ina.3_Missense_Mutation_p.A89D|NFE2L1_uc002inb.3_Missense_Mutation_p.A89D|NFE2L1_uc002inc.1_Missense_Mutation_p.A89D NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 89 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 CAGGTGAGGGCCCTGGACAGG 0.582 NA 25 94 3.08e-08 5.83e-08 1 0 BAHCC1 57597 broad.mit.edu 37 17 79410355 79410355 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr17:79410355C>T uc002kaf.2 + 3 1980 c.1980C>T c.(1978-1980)GCC>GCT p.A660A BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 660 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GCCTCAAGGCCAGCTGCATCC 0.642 NA 6 14 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63547834 63547834 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr18:63547834C>T uc002ljz.2 + 12 2387 c.2062C>T c.(2062-2064)CCA>TCA p.P688S CDH7_uc002lkb.2_Missense_Mutation_p.P688S NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 688 Cytoplasmic (Potential). 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) GGATGTGACTCCAGAAATTCA 0.478 NA 13 42 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65180979 65180979 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr18:65180979C>G uc002lke.1 - 2 2121 c.897G>C c.(895-897)CAG>CAC p.Q299H NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 289 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GAAAAACATACTGTGTGACGG 0.388 NA 14 69 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8131097 8131097 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:8131097C>T uc002mjf.2 - 63 8157 c.8136G>A c.(8134-8136)CTG>CTA p.L2712L FBN3_uc002mje.2_Silent_p.L508L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2712 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GTGAGAGGTTCAGGCCCAAGG 0.662 NA 8 15 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8188397 8188397 + Silent SNP G G A rs145240162 byFrequency TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:8188397G>A uc002mjf.2 - 23 3054 c.3033C>T c.(3031-3033)TGC>TGT p.C1011C NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1011 EGF-like 12; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCGCACAGGCGCAGTGGAAGC 0.597 NA 16 26 0 0 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842012 8842012 + Missense_Mutation SNP A A C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:8842012A>C uc010xkg.1 + 1 622 c.622A>C c.(622-624)ATG>CTG p.M208L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 GCTGATCCTAATGCTCCCTCT 0.582 NA 34 51 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9049680 9049680 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:9049680C>G uc002mkp.2 - 5 32155 c.31951G>C c.(31951-31953)GCA>CCA p.A10651P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10653 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 GGGGTCAGTGCATCTAGTTCA 0.473 NA 14 63 0 0 0 0 SLC44A2 57153 broad.mit.edu 37 19 10753954 10753954 + Splice_Site SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:10753954G>A uc002mpf.2 + 22 2154 c.2015_splice c.e22-1 p.L672_splice SLC44A2_uc002mpe.3_Splice_Site_p.L670_splice|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.2_Splice_Site_p.L221_splice|SLC44A2_uc002mpi.2_Splice_Site NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TCTCTCCACAGTGGAGGACCT 0.592 NA 7 6 0 0 0 0 ZNF844 284391 broad.mit.edu 37 19 12186456 12186456 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:12186456G>A uc002mtb.2 + 4 664 c.521G>A c.(520-522)TGT>TAT p.C174Y ZNF844_uc010dym.1_Missense_Mutation_p.C17Y NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 174 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTAAAGAATGTGGAAAAACC 0.383 NA 12 20 0 0 0 0 ZNF564 163050 broad.mit.edu 37 19 12639154 12639154 + Missense_Mutation SNP A A C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:12639154A>C uc002mty.2 - 3 365 c.155T>G c.(154-156)ATT>AGT p.I52S ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCAATCTTCAATGCTCTGGTC 0.299 NA 5 32 0 0 0 0 CD97 976 broad.mit.edu 37 19 14513676 14513676 + Splice_Site SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:14513676T>C uc002myl.2 + 12 1572 c.1449_splice c.e12+2 p.K483_splice CD97_uc002mym.2_Splice_Site_p.K434_splice|CD97_uc002myn.2_Splice_Site_p.K390_splice NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 CCTGCCAAGGTCTCTGCTCAC 0.368 NA 18 45 0 0 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989681 15989681 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:15989681C>T uc002nbs.1 - 13 1513 c.1463G>A c.(1462-1464)CGC>CAC p.R488H CYP4F2_uc010xot.1_Missense_Mutation_p.R339H NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 488 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GACGCGGAAGCGCAGCAGCGT 0.677 NA 9 68 0 0 0 0 KCNN1 3780 broad.mit.edu 37 19 18084991 18084991 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:18084991G>C uc002nht.2 + 3 604 c.294G>C c.(292-294)GCG>GCC p.A98A KCNN1_uc010xqa.1_Silent_p.A98A NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 98 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 ACCGGCGGGCGCTCTTCGAGA 0.627 NA 4 17 0 0 0 0 IL12RB1 3594 broad.mit.edu 37 19 18191667 18191667 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:18191667C>T uc002nhw.1 - 4 448 c.384G>A c.(382-384)GAG>GAA p.E128E IL12RB1_uc010xqb.1_Silent_p.E128E|IL12RB1_uc002nhx.1_Silent_p.E168E|IL12RB1_uc002nhy.2_Silent_p.E128E NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 128 Extracellular (Potential).|Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 GCAGGGTCACCTCAGGAGACT 0.582 NA 14 76 0 0 0 0 ZNF45 7596 broad.mit.edu 37 19 44418581 44418582 + Missense_Mutation DNP GC GC AT TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:44418581_44418582GC>AT uc002oxu.1 - 4 1105_1106 c.1006_1007GC>AT c.(1006-1008)GCA>ATA p.A336I ZNF45_uc002oxw.1_Missense_Mutation_p.A336I|ZNF45_uc002oxv.1_Missense_Mutation_p.A336I NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 336 C2H2-type 7. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CTTGCCACATGCATTGCATTTG 0.455 NA 22 48 0 0 0 0 CEACAM20 125931 broad.mit.edu 37 19 45016078 45016078 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:45016078T>A uc010ejn.1 - 10 1588 c.1572A>T c.(1570-1572)GAA>GAT p.E524D CEACAM20_uc010ejo.1_Missense_Mutation_p.E524D|CEACAM20_uc010ejp.1_Missense_Mutation_p.E431D|CEACAM20_uc010ejq.1_Missense_Mutation_p.E431D NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 524 Cytoplasmic (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) CACTCACCAGTTCGACTCTGA 0.488 NA 3 10 0 0 0 0 ZNF616 90317 broad.mit.edu 37 19 52618924 52618924 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:52618924C>T uc002pym.2 - 4 1776 c.1493G>A c.(1492-1494)TGT>TAT p.C498Y ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 498 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GACCTTGCCACATTCATTGCA 0.403 NA 13 97 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55441964 55441964 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:55441964G>T uc002qih.3 - 9 2789 c.2713C>A c.(2713-2715)CTC>ATC p.L905I NLRP7_uc002qig.3_Missense_Mutation_p.L877I|NLRP7_uc002qii.3_Missense_Mutation_p.L905I|NLRP7_uc010esk.2_Missense_Mutation_p.L905I|NLRP7_uc010esl.2_Missense_Mutation_p.L933I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 905 LRR 8. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGGTTTGTGAGGCTGCAGGCT 0.463 NA 50 66 3.32e-32 6.59e-32 1 0 ZNF470 388566 broad.mit.edu 37 19 57089845 57089845 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:57089845G>A uc002qnl.3 + 6 2724 c.2048G>A c.(2047-2049)GGA>GAA p.G683E ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 683 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AAAGAATGTGGAAAAGCCTTC 0.343 NA 11 47 0 0 0 0 ZNF547 284306 broad.mit.edu 37 19 57879930 57879930 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:57879930G>A uc002qol.2 + 2 200 c.7G>A c.(7-9)GAA>AAA p.E3K ZNF547_uc010ygx.1_Missense_Mutation_p.E3K NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCGATGGCAGAAATGAACCC 0.493 NA 7 56 0 0 0 0 A1BG 1 broad.mit.edu 37 19 58862944 58862944 + Missense_Mutation SNP G G T rs117988784 by1000genomes TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:58862944G>T uc002qsd.3 - 5 785 c.723C>A c.(721-723)TTC>TTA p.F241L NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 241 Ig-like V-type 3. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GCCGTAGCTGGAAGTCCACTC 0.637 NA 15 23 1.63e-17 3.21e-17 1 0 SLC27A5 10998 broad.mit.edu 37 19 59011917 59011917 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr19:59011917G>A uc002qtc.2 - 5 1449 c.1339C>T c.(1339-1341)CGC>TGC p.R447C SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 447 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GCCCCGCAGCGCCCCACATAG 0.602 NA 10 32 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33412051 33412051 + Nonsense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:33412051C>T uc002ros.2 + 6 1330 c.1330C>T c.(1330-1332)CAG>TAG p.Q444* LTBP1_uc002rot.2_Nonsense_Mutation_p.Q118*|LTBP1_uc002rou.2_Nonsense_Mutation_p.Q118*|LTBP1_uc002rov.2_Nonsense_Mutation_p.Q118*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.Q118*|LTBP1_uc010yna.1_Nonsense_Mutation_p.Q118* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 444 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAAACTTTATCAGCATTCCCA 0.512 NA 18 50 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80097053 80097053 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:80097053A>G uc010ysh.1 + 4 582 c.577A>G c.(577-579)AGA>GGA p.R193G CTNNA2_uc010yse.1_Missense_Mutation_p.R193G|CTNNA2_uc010ysf.1_Missense_Mutation_p.R193G|CTNNA2_uc010ysg.1_Missense_Mutation_p.R193G NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 193 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGCAGCAAGAAGACAACAGGT 0.403 NA 16 68 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152586143 152586143 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:152586143C>T uc010fnx.2 - 4 255 c.64G>A c.(64-66)GAG>AAG p.E22K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 22 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCCGGCACCTCTTCGTAAACC 0.493 NA 42 65 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167060716 167060716 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:167060716A>G uc010fpl.2 - 26 4831 c.4490T>C c.(4489-4491)ATA>ACA p.I1497T uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1508 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TAGGTCAAATATACATCCTTG 0.318 NA 17 24 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179528604 179528604 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:179528604G>A uc010zfk.1 - 15 1376 c.828C>T c.(826-828)ATC>ATT p.I276I TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTTCGCGGATAACCTCTT 0.423 NA 84 202 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189906418 189906418 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:189906418C>T uc002uqk.2 - 50 3802 c.3527G>A c.(3526-3528)GGT>GAT p.G1176D COL5A2_uc010frx.2_Missense_Mutation_p.G752D NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1176 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCCTGGAGGACCCTGCAAGAA 0.448 NA 29 74 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196718132 196718132 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:196718132C>A uc002utj.3 - 46 8817 c.8716G>T c.(8716-8718)GGG>TGG p.G2906W NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2906 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGGATATCCCCAGTCAAGTTG 0.507 NA 22 23 1.28e-07 2.41e-07 1 0 MDH1B 130752 broad.mit.edu 37 2 207605810 207605810 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr2:207605810G>A uc002vbs.2 - 10 1482 c.1427C>T c.(1426-1428)CCT>CTT p.P476L MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.P476L|MDH1B_uc010fuj.2_Missense_Mutation_p.P378L|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 476 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TTCTTCATCAGGGACCAGATC 0.333 NA 20 25 0 0 0 0 C20orf54 113278 broad.mit.edu 37 20 745904 745904 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr20:745904A>G uc002wed.3 - 2 854 c.515T>C c.(514-516)ATA>ACA p.I172T C20orf54_uc002wee.2_Missense_Mutation_p.I172T NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 172 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GCTGTCTGATATCTCAGTGAC 0.577 NA 15 73 0 0 0 0 ITPA 3704 broad.mit.edu 37 20 3202541 3202541 + Nonsense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr20:3202541C>T uc002wid.2 + 7 608 c.466C>T c.(466-468)CAG>TAG p.Q156* ITPA_uc002wie.2_Nonsense_Mutation_p.Q139*|ITPA_uc002wif.2_RNA NM_033453 NP_258412 Q9BY32 ITPA_HUMAN inosine triphosphatase isoform a 156 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding ovary(1) 1 CCCCTGCTTTCAGCCTGATGG 0.617 NA 9 41 0 0 0 0 PROCR 10544 broad.mit.edu 37 20 33764086 33764086 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr20:33764086G>A uc002xbt.2 + 3 622 c.438G>A c.(436-438)GAG>GAA p.E146E EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.E183E NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 146 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) TCCGGCCGGAGAGAGCCTTGT 0.607 NA 40 76 0 0 0 0 CD40 958 broad.mit.edu 37 20 44756788 44756788 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr20:44756788C>T uc002xrg.1 + 7 648 c.571C>T c.(571-573)CGG>TGG p.R191W CD40_uc002xrh.1_Missense_Mutation_p.S170L|CD40_uc002xri.1_Missense_Mutation_p.S204L|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 191 Extracellular (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TCCCCAGGATCGGCTGAGAGC 0.547 NA Immune_Deficiency_with_Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 102 0 0 0 0 SULF2 55959 broad.mit.edu 37 20 46301111 46301111 + Silent SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr20:46301111C>A uc002xto.2 - 11 1737 c.1407G>T c.(1405-1407)ACG>ACT p.T469T SULF2_uc002xtr.2_Silent_p.T469T|SULF2_uc002xtq.2_Silent_p.T469T NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 469 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TCAGCTTCCCCGTGGCGTCCT 0.652 NA 4 31 0.00024832 0.000444785 1 0 COMT 1312 broad.mit.edu 37 22 19950331 19950331 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr22:19950331C>T uc002zqu.2 + 3 531 c.282C>T c.(280-282)GAC>GAT p.D94D COMT_uc002zqt.2_Silent_p.D94D|COMT_uc002zqv.2_Silent_p.D94D|COMT_uc002zqw.2_Silent_p.D94D|COMT_uc011ahd.1_Silent_p.D94D|COMT_uc002zqx.2_Silent_p.D94D NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 94 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) ACGTGGGCGACAAGAAAGGTG 0.612 NA 7 35 0 0 0 0 HIC2 23119 broad.mit.edu 37 22 21800083 21800083 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr22:21800083G>T uc002zur.3 + 3 1129 c.899G>T c.(898-900)GGC>GTC p.G300V HIC2_uc002zus.3_Missense_Mutation_p.G300V NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 300 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GAGCTGGGGGGCACCCCTGAT 0.677 NA 15 41 8.6e-14 1.66e-13 1 0 RGL4 266747 broad.mit.edu 37 22 24034239 24034239 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr22:24034239C>G uc002zxn.2 + 1 1192 c.22C>G c.(22-24)CTG>GTG p.L8V LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.L8V|RGL4_uc002zxp.1_Translation_Start_Site|RGL4_uc002zxq.2_Translation_Start_Site NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 8 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 GCTCACAAATCTGCCTGCAGC 0.612 NA 23 31 0 0 0 0 TBC1D5 9779 broad.mit.edu 37 3 17418038 17418038 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:17418038G>C uc003cbf.2 - 10 2345 c.680C>G c.(679-681)GCC>GGC p.A227G TBC1D5_uc010hev.2_Missense_Mutation_p.A227G|TBC1D5_uc003cbe.2_Missense_Mutation_p.A227G|TBC1D5_uc010hew.1_Missense_Mutation_p.A179G NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 227 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 AGACTCACTGGCATGTAGAAA 0.403 NA 19 36 0 0 0 0 AZI2 64343 broad.mit.edu 37 3 28365639 28365639 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:28365639C>T uc003ceb.2 - 8 1605 c.1073G>A c.(1072-1074)AGT>AAT p.S358N AZI2_uc003cec.2_Missense_Mutation_p.S246N|AZI2_uc003ced.2_3'UTR NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 358 mitochondrion|plasma membrane ovary(2) 2 TGCTGTCTCACTTGATTTAGG 0.398 NA 32 43 0 0 0 0 SEMA3B 7869 broad.mit.edu 37 3 50313227 50313227 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:50313227G>A uc003cyu.2 + 18 2039 c.1797G>A c.(1795-1797)GCG>GCA p.A599A SEMA3B_uc003cyt.2_Silent_p.A598A|SEMA3B_uc003cyv.2_Silent_p.A486A|SEMA3B_uc003cyw.2_Silent_p.A322A|SEMA3B_uc010hli.2_Silent_p.A491A|SEMA3B_uc003cyx.2_Silent_p.A485A|SEMA3B_uc003cyy.2_Silent_p.A256A|SEMA3B_uc011bdo.1_Silent_p.A256A NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 599 Ig-like C2-type. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGCTGCAGGCGCGCGTGGAGT 0.692 NA 13 19 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868655 97868655 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:97868655C>G uc003dsg.1 + 1 426 c.426C>G c.(424-426)ATC>ATG p.I142M NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 142 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GACTGTGCATCCGGCTATTAA 0.393 NA 16 162 0 0 0 0 ABI3BP 25890 broad.mit.edu 37 3 100493490 100493490 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:100493490G>T uc003dun.2 - 28 2442 c.2357C>A c.(2356-2358)CCA>CAA p.P786Q ABI3BP_uc003duj.2_Missense_Mutation_p.P366Q|ABI3BP_uc003duk.2_Missense_Mutation_p.P495Q|ABI3BP_uc003dul.2_Missense_Mutation_p.P616Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.P740Q|ABI3BP_uc003dum.2_Missense_Mutation_p.P197Q NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 786 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TTCTCTTGTTGGGCTTGAGCT 0.343 NA 3 8 0.004672 0.0082471 1 0 ILDR1 286676 broad.mit.edu 37 3 121712107 121712107 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:121712107G>A uc003ees.2 - 7 1595 c.1489C>T c.(1489-1491)CGC>TGC p.R497C ILDR1_uc003eeq.2_Missense_Mutation_p.R465C|ILDR1_uc003eer.2_Missense_Mutation_p.R453C|ILDR1_uc010hrg.2_Missense_Mutation_p.R408C NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 497 Cytoplasmic (Potential). cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) TGCGAGCCGCGGCGGTGGGCC 0.632 NA 10 27 0 0 0 0 SHOX2 6474 broad.mit.edu 37 3 157815817 157815817 + Silent SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:157815817C>T uc003fbr.2 - 5 1134 c.995G>A c.(994-996)TGA>TAA p.*332* SHOX2_uc003fbs.2_Silent_p.*356*|SHOX2_uc010hvw.2_Silent_p.*320* NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 332 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GCGTTGGCGTCACAGACCCAG 0.657 NA 141 470 0 0 0 0 NLGN1 22871 broad.mit.edu 37 3 173996813 173996813 + Missense_Mutation SNP A A T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:173996813A>T uc003fio.1 + 6 1445 c.1022A>T c.(1021-1023)GAA>GTA p.E341V NLGN1_uc010hww.1_Missense_Mutation_p.E381V|NLGN1_uc003fip.1_Missense_Mutation_p.E341V NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 358 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCTTACAAAGAACTTGTTGAC 0.423 NA 43 123 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194152587 194152587 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:194152587T>A uc003fty.3 - 21 2682 c.2280A>T c.(2278-2280)AGA>AGT p.R760S ATP13A3_uc003ftz.1_Missense_Mutation_p.R466S NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 760 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTCCACAATCTCTGGCCACAG 0.353 NA 10 44 0 0 0 0 DLG1 1739 broad.mit.edu 37 3 197009585 197009585 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr3:197009585C>G uc003fxo.3 - 4 473 c.283G>C c.(283-285)GAG>CAG p.E95Q DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.E95Q|DLG1_uc011bue.1_Missense_Mutation_p.E95Q|DLG1_uc010ial.2_Missense_Mutation_p.E95Q|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.E95Q NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 95 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GGCAGTGTCTCTGAAGTCACA 0.398 NA 14 150 0 0 0 0 TADA2B 93624 broad.mit.edu 37 4 7056447 7056447 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr4:7056447C>T uc003gjw.3 + 2 1080 c.929C>T c.(928-930)GCA>GTA p.A310V TADA2B_uc010idi.2_Missense_Mutation_p.A235V NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 GAGTACGAGGCAGCGCGGCAT 0.557 NA 28 36 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147560567 147560567 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr4:147560567T>A uc003ikv.2 + 1 523 c.275T>A c.(274-276)CTT>CAT p.L92H NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 92 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) AGAGCCTGTCTTCCAACCCCA 0.308 NA 14 22 0 0 0 0 TMEM192 201931 broad.mit.edu 37 4 166000814 166000814 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr4:166000814G>C uc003iqz.3 - 6 911 c.812C>G c.(811-813)ACG>AGG p.T271R NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN transmembrane protein 192 271 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) AGCCTCTCACGTTCTACTTGG 0.527 NA 6 17 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187627774 187627774 + Nonsense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr4:187627774G>A uc003izf.2 - 2 3396 c.3208C>T c.(3208-3210)CGA>TGA p.R1070* FAT1_uc010iso.1_Nonsense_Mutation_p.R1070* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1070 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATGGAGTATCGGATCTCCCCA 0.443 NA HNSCC(5;0.00058) 49 70 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13719088 13719088 + Silent SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:13719088A>G uc003jfd.2 - 72 12444 c.12402T>C c.(12400-12402)GCT>GCC p.A4134A DNAH5_uc003jfc.2_Silent_p.A302A NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4134 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ACTGCTTATGAGCCTCGGTGG 0.468 NA Kartagener_syndrome 25 115 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14387624 14387624 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:14387624G>A uc003jff.2 + 22 3654 c.3648G>A c.(3646-3648)GAG>GAA p.E1216E TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.E1167E|TRIO_uc003jfh.1_Silent_p.E865E NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1216 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) ATGCGGCAGAGATAAAAAAAT 0.438 NA 5 137 0 0 0 0 LMBRD2 92255 broad.mit.edu 37 5 36124341 36124341 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:36124341G>C uc003jkb.1 - 7 1189 c.774C>G c.(772-774)ATC>ATG p.I258M NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 258 Cytoplasmic (Potential).|Potential. integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATTATACTTGATGCTTTCAT 0.269 NA 5 30 0 0 0 0 NIPBL 25836 broad.mit.edu 37 5 37057315 37057315 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:37057315A>G uc003jkl.3 + 43 7790 c.7291A>G c.(7291-7293)ATA>GTA p.I2431V NIPBL_uc003jkk.3_Missense_Mutation_p.I2431V|NIPBL_uc003jkn.2_Missense_Mutation_p.I124V NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2431 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCTCTTGTATATAGCAGACAA 0.358 NA 13 49 0 0 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64521916 64521916 + Nonsense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:64521916G>T uc003jtp.2 - 16 2878 c.2064C>A c.(2062-2064)TGC>TGA p.C688* ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.C309* NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 688 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GAGCAACCTTGCATTCTCCAT 0.373 NA 14 14 9.05e-12 1.74e-11 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74696051 74696051 + Silent SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:74696051C>G uc011csu.1 - 10 1511 c.1089G>C c.(1087-1089)GGG>GGC p.G363G COL4A3BP_uc003kds.2_Silent_p.G363G|COL4A3BP_uc003kdt.2_Silent_p.G491G|COL4A3BP_uc003kdu.2_Silent_p.G363G NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 363 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ATCTATGTGTCCCCACAGAAG 0.348 NA 7 10 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263365 140263365 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:140263365G>A uc003lif.2 + 1 1512 c.1512G>A c.(1510-1512)CTG>CTA p.L504L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L504L|PCDHA13_uc003lid.2_Silent_p.L504L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 504 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGTGCGCTGTCGAGCTACG 0.672 NA 37 61 0 0 0 0 FCHSD1 89848 broad.mit.edu 37 5 141026991 141026991 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr5:141026991G>A uc003llk.2 - 9 853 c.802C>T c.(802-804)CAC>TAC p.H268Y FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 268 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCGCGGTGGGCATGCTCC 0.622 NA 9 10 0 0 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975992 32975992 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:32975992G>A uc003ocr.2 - 2 205 c.129C>T c.(127-129)GGC>GGT p.G43G HLA-DOA_uc010juj.2_Silent_p.G13G|HLA-DOA_uc010jui.2_Silent_p.G43G NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 43 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 GGCCCGAGGCGCCGTAAGACT 0.537 NA 14 47 0 0 0 0 ZNF318 24149 broad.mit.edu 37 6 43322436 43322436 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:43322436G>A uc003oux.2 - 4 2714 c.2636C>T c.(2635-2637)TCT>TTT p.S879F ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 879 Potential. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTTCTCATCAGAGATCTTCTC 0.438 NA 24 43 0 0 0 0 POLH 5429 broad.mit.edu 37 6 43582058 43582058 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:43582058G>A uc003ovq.3 + 11 2210 c.1906G>A c.(1906-1908)GAG>AAG p.E636K POLH_uc010jyu.2_Missense_Mutation_p.E512K|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.E537K NM_006502 NP_006493 Q9Y253 POLH_HUMAN DNA-directed DNA polymerase eta 636 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(2) 2 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGTGCCCTGTGAGAAGTGTGG 0.502 NA DNA_polymerases_(catalytic_subunits) Xeroderma_Pigmentosum 32 136 0 0 0 0 PGK2 5232 broad.mit.edu 37 6 49754449 49754449 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:49754449C>T uc003ozu.2 - 1 559 c.452G>A c.(451-453)CGA>CAA p.R151Q NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 151 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AAGTGATGCTCGGAAGGCTTC 0.498 NA 19 83 0 0 0 0 GCLC 2729 broad.mit.edu 37 6 53373486 53373486 + Silent SNP G G T rs17879847 byFrequency TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:53373486G>T uc003pbw.1 - 8 1240 c.852C>A c.(850-852)CCC>CCA p.P284P GCLC_uc003pbv.1_Silent_p.P8P NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 284 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CTCGGTAAAAGGGAGATGCAG 0.443 NA 13 95 3.27e-08 6.17e-08 1 0 ZBTB2 57621 broad.mit.edu 37 6 151686959 151686959 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr6:151686959G>C uc003qoh.2 - 3 1377 c.1242C>G c.(1240-1242)AGC>AGG p.S414R NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) AAGTGTCGATGCTCTGGTTGA 0.512 NA 7 49 0 0 0 0 TMEM106B 54664 broad.mit.edu 37 7 12263954 12263954 + Silent SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr7:12263954A>G uc011jxk.1 + 5 784 c.384A>G c.(382-384)GTA>GTG p.V128V TMEM106B_uc003ssh.2_Silent_p.V128V NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 128 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) ACATTGGTGTAAAATCAGCCT 0.343 NA 44 105 0 0 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579405 44579406 + Missense_Mutation DNP GC GC AA TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr7:44579405_44579406GC>AA uc003tlb.2 - 2 646_647 c.590_591GC>TT c.(589-591)TGC>TTT p.C197F NPC1L1_uc003tlc.2_Missense_Mutation_p.C197F|NPC1L1_uc011kbw.1_Missense_Mutation_p.C197F|NPC1L1_uc003tld.2_Missense_Mutation_p.C197F NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 197 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCTGGGCATTGCAAAGGGCAGA 0.634 NA 25 66 0 0 0 0 SLC25A13 10165 broad.mit.edu 37 7 95775995 95775995 + Missense_Mutation SNP T T A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr7:95775995T>A uc003uof.3 - 14 1516 c.1325A>T c.(1324-1326)CAG>CTG p.Q442L SLC25A13_uc003uog.3_Missense_Mutation_p.Q443L|SLC25A13_uc011kik.1_Missense_Mutation_p.Q334L NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 442 Solcar 2.|Helical; Name=3; (Potential). ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GAAAATCACCTGGGAGCCTCC 0.433 NA 63 73 0 0 0 0 MYOM2 9172 broad.mit.edu 37 8 2040177 2040177 + Missense_Mutation SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:2040177T>C uc003wpx.3 + 16 1970 c.1832T>C c.(1831-1833)GTC>GCC p.V611A MYOM2_uc011kwi.1_Missense_Mutation_p.V36A NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 611 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CGAAAAGTTGTCCCTTCTGCT 0.557 NA 103 144 0 0 0 0 PRSS55 203074 broad.mit.edu 37 8 10388887 10388887 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:10388887C>T uc003wta.2 + 3 445 c.430C>T c.(430-432)CTT>TTT p.L144F uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 144 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CAGCATCATTCTTCACAAAGA 0.517 NA 34 155 0 0 0 0 WRN 7486 broad.mit.edu 37 8 30977842 30977842 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:30977842C>A uc003xio.3 + 21 3320 c.2532C>A c.(2530-2532)GAC>GAA p.D844E WRN_uc010lvk.2_Missense_Mutation_p.D311E NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 844 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTCCTAAGGACATGGAATCAT 0.423 NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 31 72 8.17e-17 1.59e-16 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68150679 68150679 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:68150679C>G uc003xxo.1 - 22 3578 c.3188G>C c.(3187-3189)GGA>GCA p.G1063A ARFGEF1_uc003xxl.1_Missense_Mutation_p.G517A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.G46A NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1063 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGGTTTCACTCCAGTTCCTAT 0.393 NA 18 37 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73850088 73850088 + Missense_Mutation SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:73850088G>C uc003xzb.2 + 3 3086 c.2498G>C c.(2497-2499)TGC>TCC p.C833S NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 833 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AGCCCAAATTGCTTTGCAGAT 0.537 NA 21 51 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767248 77767248 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:77767248G>A uc003yav.2 + 10 8343 c.7956G>A c.(7954-7956)CGG>CGA p.R2652R ZFHX4_uc003yau.1_Silent_p.R2697R|ZFHX4_uc003yaw.1_Silent_p.R2652R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2652 C2H2-type 17. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCGCTCTCGGCACTGGAATG 0.512 NA HNSCC(33;0.089) 17 60 0 0 0 0 OSGIN2 734 broad.mit.edu 37 8 90926441 90926441 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:90926441G>A uc003yeg.2 + 3 550 c.204G>A c.(202-204)CAG>CAA p.Q68Q OSGIN2_uc003yeh.2_Silent_p.Q112Q NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 68 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) TTGTTGATCAGGTATTATTTC 0.274 NA 9 29 0 0 0 0 RNF19A 25897 broad.mit.edu 37 8 101299760 101299760 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:101299760C>T uc003yjj.1 - 3 960 c.643G>A c.(643-645)GAT>AAT p.D215N RNF19A_uc003yjk.1_Missense_Mutation_p.D215N|RNF19A_uc003yjl.1_Missense_Mutation_p.D215N NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 215 IBR-type. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CACCTACAATCAGGATCTGCA 0.358 NA 28 59 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113267646 113267646 + Nonsense_Mutation SNP A A T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:113267646A>T uc003ynu.2 - 62 10032 c.9873T>A c.(9871-9873)TGT>TGA p.C3291* CSMD3_uc003yns.2_Nonsense_Mutation_p.C2493*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C3251*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C3122* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3291 Extracellular (Potential).|Sushi 26. 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 CAGGGTCACCACAAAACTTTG 0.363 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 52 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116631670 116631670 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:116631670C>T uc003ynz.2 - 2 1075 c.616G>A c.(616-618)GTG>ATG p.V206M TRPS1_uc011lhy.1_Missense_Mutation_p.V210M|TRPS1_uc003yny.2_Missense_Mutation_p.V219M|TRPS1_uc010mcy.2_Missense_Mutation_p.V206M NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 206 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTGTCATTCACCAGTAAGTCA 0.468 NA Langer-Giedion_syndrome 29 121 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139642988 139642988 + Missense_Mutation SNP C C A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:139642988C>A uc003yvd.2 - 50 4060 c.3613G>T c.(3613-3615)GCA>TCA p.A1205S COL22A1_uc011ljo.1_Missense_Mutation_p.A485S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1205 Pro-rich.|Gly-rich.|Collagen-like 11. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ATTCCATCTGCCCCCTAAAAA 0.418 NA HNSCC(7;0.00092) 35 109 4.9e-10 9.39e-10 1 0 PIP5K1B 8395 broad.mit.edu 37 9 71555671 71555671 + Missense_Mutation SNP C C G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr9:71555671C>G uc004agu.2 + 14 1772 c.1467C>G c.(1465-1467)CAC>CAG p.H489Q PIP5K1B_uc011lrq.1_Missense_Mutation_p.H489Q|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 489 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) TCAATGAGCACTATCCACACG 0.478 NA 33 56 0 0 0 0 TEX10 54881 broad.mit.edu 37 9 103090242 103090242 + Missense_Mutation SNP T T C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr9:103090242T>C uc004bas.2 - 8 1843 c.1628A>G c.(1627-1629)TAT>TGT p.Y543C TEX10_uc011lvf.1_Missense_Mutation_p.Y382C|TEX10_uc011lvg.1_Missense_Mutation_p.Y546C NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 543 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TTTACTACGATATCTTAGAAA 0.328 NA 4 9 0 0 0 0 TUBB2C 10383 broad.mit.edu 37 9 140137973 140137973 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr9:140137973G>A uc004cmh.1 + 4 1405 c.1303G>A c.(1303-1305)GAG>AAG p.E435K TUBB2C_uc004cmg.1_Missense_Mutation_p.E289K NM_006088 NP_006079 P68371 TBB2C_HUMAN tubulin, beta, 2 435 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGAGGAGGGCGAGTTCGAGGA 0.587 NA 48 45 0 0 0 0 SLC25A6 293 broad.mit.edu 37 X 1508618 1508618 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:1508618G>C uc004cpt.2 - 2 210 c.114C>G c.(112-114)GTC>GTG p.V38V SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 38 Solcar 1.|Helical; Name=1; (By similarity). active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TGGCGTGCTGGACCTGGGGGA 0.552 NA 26 199 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735807 12735807 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:12735807G>A uc004cuz.1 + 16 3368 c.2862G>A c.(2860-2862)CCG>CCA p.P954P FRMPD4_uc011mij.1_Silent_p.P946P NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 954 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCGAGTTCCCGGCCTCCAAGA 0.612 NA 76 42 0 0 0 0 ACOT9 23597 broad.mit.edu 37 X 23724804 23724804 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:23724804G>A uc004dap.2 - 10 902 c.756C>T c.(754-756)GCC>GCT p.A252A ACOT9_uc004dan.2_Silent_p.A2A|ACOT9_uc004dao.2_Silent_p.A261A|ACOT9_uc004daq.2_Silent_p.A210A|ACOT9_uc004dar.2_Silent_p.A192A|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.A192A NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 252 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 CAGCGCTGGGGGCCATTTTCA 0.488 NA 16 44 0 0 0 0 SAT1 6303 broad.mit.edu 37 X 23801827 23801827 + Splice_Site SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:23801827G>A uc004dau.2 + 2 312 c.118_splice c.e2+1 p.D40_splice SAT1_uc010nfv.2_Splice_Site_p.D40_splice|SAT1_uc004dav.2_Splice_Site NM_002970 NP_002961 P21673 SAT1_HUMAN diamine N-acetyltransferase 1 angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding 0 Spermine(DB00127) ACTGAAAAAGGTAATTCAACA 0.488 NA 10 11 0 0 0 0 TRO 7216 broad.mit.edu 37 X 54955857 54955857 + Silent SNP T T G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:54955857T>G uc004dtq.2 + 12 2807 c.2700T>G c.(2698-2700)GGT>GGG p.G900G TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G431G|TRO_uc004dtw.2_Silent_p.G503G|TRO_uc004dtx.2_Silent_p.G283G NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 900 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TCTGTTTTGGTGGCTCTCCCA 0.557 NA 3 51 0 0 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927031 92927031 + Missense_Mutation SNP C C T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:92927031C>T uc004efq.2 - 1 1578 c.1273G>A c.(1273-1275)GGA>AGA p.G425R FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 425 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TCAATTTCTCCAGTAGCAGTT 0.443 NA 6 4 0 0 0 0 LUZP4 51213 broad.mit.edu 37 X 114540929 114540929 + Missense_Mutation SNP A A G TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chrX:114540929A>G uc004eqa.2 + 4 536 c.502A>G c.(502-504)AGA>GGA p.R168G LUZP4_uc004eqb.2_Missense_Mutation_p.R86G NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 168 nucleus ovary(2) 2 CCACTTAGAGAGATCTCTTTC 0.448 NA 41 18 0 0 0 0 RERE 473 broad.mit.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:8716109delT uc001ape.2 - 3 1058 c.248delA c.(247-249)AAGfs p.K83fs RERE_uc001apf.2_Frame_Shift_Del_p.K83fs|RERE_uc001aph.1_Frame_Shift_Del_p.K83fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATAACGAGACTTTTTTTTCGG 0.453 NA 9 367 --- --- --- --- NA NA NA NA RBBP4 5928 broad.mit.edu 37 1 33134662 33134664 + In_Frame_Del DEL AGA AGA - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:33134662_33134664delAGA uc001bvr.2 + 6 849_851 c.690_692delAGA c.(688-693)GTAGAA>GTA p.E231del RBBP4_uc001bvs.2_In_Frame_Del_p.E230del|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_In_Frame_Del_p.E196del NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 231 WD 3. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CGGCAGTAGTAGAAGATGTTTCC 0.433 NA 24 60 --- --- --- --- NA NA NA NA PRPF38B 55119 broad.mit.edu 37 1 109241970 109241980 + Frame_Shift_Del DEL GGGGTTAGAAC GGGGTTAGAAC - rs3210429 TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr1:109241970_109241980delGGGGTTAGAAC uc001dvv.3 + 6 1251_1261 c.969_979delGGGGTTAGAAC c.(967-981)CGGGGGTTAGAACGCfs p.R323fs PRPF38B_uc001dvw.3_Frame_Shift_Del_p.R212fs|PRPF38B_uc010ouz.1_Frame_Shift_Del_p.R126fs NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 323_327 Arg-rich. mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) GTATTGACCGGGGGTTAGAACGCAGGCGCAG 0.422 NA 22 42 --- --- --- --- NA NA NA NA SYT16 83851 broad.mit.edu 37 14 62541956 62541957 + Frame_Shift_Ins INS - - A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr14:62541956_62541957insA uc001xfu.1 + 3 1037_1038 c.840_841insA c.(838-843)GCCAAAfs p.A280fs SYT16_uc010tsd.1_Frame_Shift_Ins_p.A280fs NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 280_281 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GAGGGGATGCCAAACACCACGG 0.545 NA 12 26 --- --- --- --- NA NA NA NA HYDIN 54768 broad.mit.edu 37 16 71212876 71212876 + Frame_Shift_Del DEL G G - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr16:71212876delG uc002ezr.2 - 4 464 c.336delC c.(334-336)CCCfs p.P112fs HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Frame_Shift_Del_p.P112fs|HYDIN_uc010vmc.1_Frame_Shift_Del_p.P129fs|HYDIN_uc010vmd.1_Frame_Shift_Del_p.P139fs|HYDIN_uc002ezw.3_Frame_Shift_Del_p.P129fs NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 112 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGACTTCACAGGGAGTGTAGT 0.388 NA 13 122 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579718 7579718 + Frame_Shift_Del DEL A A - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr17:7579718delA uc002gim.2 - 3 272 c.78delT c.(76-78)CTTfs p.L26fs TP53_uc002gig.1_Frame_Shift_Del_p.L26fs|TP53_uc002gih.2_Frame_Shift_Del_p.L26fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.L26fs|TP53_uc010cni.1_Frame_Shift_Del_p.L26fs|TP53_uc002gij.2_Frame_Shift_Del_p.L26fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Frame_Shift_Del_p.L26fs|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L41fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 26 Transcription activation (acidic).|Interaction with HRMT1L2. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTTTTCAGGAAGTCTGAAAG 0.408 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 28 --- --- --- --- NA NA NA NA C4orf21 55345 broad.mit.edu 37 4 113540154 113540155 + Frame_Shift_Del DEL TG TG - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr4:113540154_113540155delTG uc003iau.2 - 6 1254_1255 c.1043_1044delCA c.(1042-1044)ACAfs p.T348fs C4orf21_uc003iaw.2_Frame_Shift_Del_p.T348fs NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTTTCCTTTCTGTATCATTCCC 0.366 NA 23 41 --- --- --- --- NA NA NA NA LRP12 29967 broad.mit.edu 37 8 105503080 105503081 + Frame_Shift_Ins INS - - TGAG TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:105503080_105503081insTGAG uc003yma.2 - 7 2495_2496 c.2400_2401insCTCA c.(2398-2403)TCAGATfs p.S800fs LRP12_uc003ymb.2_Frame_Shift_Ins_p.S781fs|LRP12_uc003ylz.2_Frame_Shift_Ins_p.S206fs NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 800_801 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGTCCTTGATCTGAGGCAAGAT 0.441 NA 26 80 --- --- --- --- NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113259327 113259328 + Frame_Shift_Ins INS - - T rs142018478 TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr8:113259327_113259328insT uc003ynu.2 - 64 10302_10303 c.10143_10144insA c.(10141-10146)AAAGGAfs p.K3381fs CSMD3_uc003yns.2_Frame_Shift_Ins_p.K2583fs|CSMD3_uc003ynt.2_Frame_Shift_Ins_p.K3341fs|CSMD3_uc011lhx.1_Frame_Shift_Ins_p.K3212fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3381_3382 Extracellular (Potential).|Sushi 27. 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 AGAAGGTGTCCTTTTTTGCAAT 0.406 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 49 --- --- --- --- NA NA NA NA LHX6 26468 broad.mit.edu 37 9 124989225 124989225 + Frame_Shift_Del DEL C C - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 563c5a89-6dad-467e-b2ea-e07677574a08 54461e7d-d574-467e-8ed5-fc6ba01cc173 g.chr9:124989225delC uc010mvw.2 - 2 263 c.154delG c.(154-156)GTCfs p.V52fs LHX6_uc004blx.3_Frame_Shift_Del_p.V81fs|LHX6_uc004bly.3_Frame_Shift_Del_p.V81fs NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 52 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGTGAGCAGACAGATGGCGTG 0.662 NA 2 4 --- --- --- --- NA NA NA NA