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 SKI 6497 broad.mit.edu 37 1 2160628 2160628 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:2160628G>C uc001aja.3 + 1 495 c.423G>C c.(421-423)GCG>GCC p.A141A NM_003036 NP_003027 P12755 SKI_HUMAN v-ski sarcoma viral oncogene homolog 141 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) AGATCAACGCGGTGTGCGACG 0.632 NA 12 3 0 0 0 0 PIK3CD 5293 broad.mit.edu 37 1 9775652 9775652 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:9775652C>T uc001aqb.3 + 4 403 c.195C>T c.(193-195)CCC>CCT p.P65P PIK3CD_uc001aqa.2_Silent_p.P65P|PIK3CD_uc010oaf.1_Silent_p.P65P|PIK3CD_uc001aqe.3_Silent_p.P65P NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 65 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TCAGTGGCCCCGAGGCCTATG 0.647 NA 10 21 0 0 0 0 PIK3CD 5293 broad.mit.edu 37 1 9776604 9776604 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:9776604C>T uc001aqb.3 + 6 915 c.707C>T c.(706-708)CCG>CTG p.P236L PIK3CD_uc010oaf.1_Missense_Mutation_p.P236L|PIK3CD_uc001aqe.3_Missense_Mutation_p.P236L NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 236 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GTGGAGCAGCCGGAAGACTAC 0.642 NA 3 4 0 0 0 0 PLOD1 5351 broad.mit.edu 37 1 12016977 12016977 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:12016977A>T uc001atm.2 + 7 738 c.647A>T c.(646-648)GAG>GTG p.E216V PLOD1_uc010obb.1_Missense_Mutation_p.E263V NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 216 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCCCAGATGAGGTCGTGCTC 0.423 NA 17 13 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16901659 16901659 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:16901659C>A uc009vos.1 - 20 3073 c.2185G>T c.(2185-2187)GCC>TCC p.A729S NBPF1_uc009vot.1_Missense_Mutation_p.A187S|NBPF1_uc001ayz.1_Missense_Mutation_p.A187S|NBPF1_uc010oce.1_Missense_Mutation_p.A458S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 729 NBPF 3. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TACCTGGGGGCAGACGATTTC 0.423 NA 8 200 9.7e-10 1.17e-09 1 0 C1orf94 84970 broad.mit.edu 37 1 34667770 34667770 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:34667770C>T uc001bxs.3 + 4 1185 c.786C>T c.(784-786)ACC>ACT p.T262T C1orf94_uc001bxt.2_Silent_p.T452T NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 262 protein binding 0 Myeloproliferative disorder(586;0.0393) CAGCCATGACCTCAGCAACCC 0.507 NA 38 11 0 0 0 0 KTI12 112970 broad.mit.edu 37 1 52499425 52499425 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:52499425G>A uc001ctj.1 - 1 48 c.9C>T c.(7-9)CTC>CTT p.L3L TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 3 ATP binding central_nervous_system(2) 2 AAAACACCACGAGCGGCATCC 0.662 NA 8 3 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79403504 79403504 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:79403504A>T uc001diq.3 - 6 904 c.748T>A c.(748-750)TCA>ACA p.S250T NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 250 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATATCCGTTGAATTTGTATCA 0.378 NA 61 51 0 0 0 0 RTCD1 8634 broad.mit.edu 37 1 100752670 100752670 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:100752670G>A uc001dtc.2 + 10 1128 c.910G>A c.(910-912)GCA>ACA p.A304T RTCD1_uc001dtd.2_Missense_Mutation_p.A317T NM_003729 NP_003720 O00442 RTC1_HUMAN RNA terminal phosphate cyclase domain 1 isoform 304 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) TGTTTTCATGGCATTAGCCAA 0.338 NA 3 42 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103449722 103449723 + Missense_Mutation DNP GG GG TT TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:103449722_103449723GG>TT uc001dul.2 - 31 2845_2846 c.2527_2528CC>AA c.(2527-2529)CCA>AAA p.P843K COL11A1_uc001duk.2_Nonsense_Mutation_p.33_34YQ>*K|COL11A1_uc001dum.2_Missense_Mutation_p.P855K|COL11A1_uc001dun.2_Missense_Mutation_p.P804K|COL11A1_uc009weh.2_Missense_Mutation_p.P727K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 843 Triple-helical region. 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) TGGATATCCTGGTAATCCTGGA 0.223 NA 7 9 0 0 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273384 145273384 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:145273384G>T uc001emn.3 + 3 608 c.238G>T c.(238-240)GGC>TGC p.G80C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G80C|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G80C|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 80 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 CCTGAATGGCGGCACATGCCA 0.532 NA 48 525 5.57e-27 7.78e-27 1 0 SNX27 81609 broad.mit.edu 37 1 151641106 151641106 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:151641106C>T uc001eyn.1 + 7 1160 c.1144C>T c.(1144-1146)CAT>TAT p.H382Y SNX27_uc001eyo.2_Missense_Mutation_p.H289Y|SNX27_uc001eyp.2_Missense_Mutation_p.H196Y NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 382 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CTACTTCTTTCATCAGGTAGG 0.308 NA 19 45 0 0 0 0 S100A7A 338324 broad.mit.edu 37 1 153390678 153390678 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:153390678C>T uc001fbt.1 + 2 177 c.120C>T c.(118-120)TTC>TTT p.F40F NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 40 EF-hand 1. cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAGAACTTCCCCAATTTCC 0.438 NA 63 76 0 0 0 0 CD1E 913 broad.mit.edu 37 1 158326571 158326571 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:158326571G>A uc001fse.2 + 6 1291 c.1052G>A c.(1051-1053)GGA>GAA p.G351E CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.G261E|CD1E_uc001fsj.2_Missense_Mutation_p.G194E|CD1E_uc001fsc.2_Missense_Mutation_p.G162E|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.G107E|CD1E_uc001fsf.2_Missense_Mutation_p.G339E|CD1E_uc001fry.2_Missense_Mutation_p.G284E|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.G150E|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.G252E|CD1E_uc001frz.2_Missense_Mutation_p.G249E|CD1E_uc009wsw.2_Missense_Mutation_p.E66K NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 351 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TTTCTCATGGGAGCCAACACT 0.403 NA 45 58 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158641244 158641244 + Splice_Site SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:158641244C>A uc001fst.1 - 12 1688 c.1489_splice c.e12-1 p.A497_splice NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCAGGAAGGCCTGTAGAAGAC 0.498 NA 15 36 3.41e-10 4.16e-10 1 0 OR6K2 81448 broad.mit.edu 37 1 158669573 158669573 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:158669573G>T uc001fsu.1 - 1 870 c.870C>A c.(868-870)ATC>ATA p.I290I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TCAGGCTATAGATAATGGGGT 0.403 NA 19 27 6.94e-10 8.42e-10 1 0 ARHGAP30 257106 broad.mit.edu 37 1 161039369 161039369 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:161039369G>A uc001fxl.2 - 1 392 c.46C>T c.(46-48)CGG>TGG p.R16W ARHGAP30_uc001fxk.2_Missense_Mutation_p.R16W|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 16 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCAAAAACCCGCTCCTTTGCG 0.642 NA 32 61 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169391451 169391451 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:169391451T>A uc001gga.1 - 3 386 c.218A>T c.(217-219)CAG>CTG p.Q73L C1orf114_uc001gfz.1_Missense_Mutation_p.Q73L|C1orf114_uc009wvq.1_Missense_Mutation_p.Q73L|C1orf114_uc001ggb.2_Missense_Mutation_p.Q73L|C1orf114_uc001ggc.1_Missense_Mutation_p.Q73L NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 73 0 all_hematologic(923;0.208) GACCTCATCCTGCAAAGATTT 0.398 NA 28 26 0 0 0 0 F5 2153 broad.mit.edu 37 1 169505920 169505920 + Splice_Site SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:169505920T>C uc001ggg.1 - 14 4942 c.4797_splice c.e14-1 p.R1599_splice NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGTTTCCCTGAAATAATAA 0.269 NA 19 37 0 0 0 0 FASLG 356 broad.mit.edu 37 1 172628386 172628386 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:172628386G>C uc001gis.2 + 1 202 c.45G>C c.(43-45)GTG>GTC p.V15V FASLG_uc001git.2_Silent_p.V15V NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 15 Pro-rich.|Cytoplasmic (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 TCTACTGGGTGGACAGCAGTG 0.547 NA 5 61 0 0 0 0 TNFSF4 7292 broad.mit.edu 37 1 173157708 173157708 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:173157708C>G uc001giw.2 - 2 310 c.154G>C c.(154-156)GTA>CTA p.V52L TNFSF4_uc001giv.2_Missense_Mutation_p.V2L NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 52 Extracellular (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 CGATGTGATACCTGAGGGAGG 0.328 NA 17 99 0 0 0 0 TNR 7143 broad.mit.edu 37 1 175306678 175306678 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:175306678C>A uc001gkp.1 - 17 3601 c.3520G>T c.(3520-3522)GGG>TGG p.G1174W TNR_uc009wwu.1_Missense_Mutation_p.G1174W NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1174 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CAGCCGCCCCCGTCGGTGGTC 0.507 NA 35 52 2.87e-16 3.74e-16 1 0 RFWD2 64326 broad.mit.edu 37 1 176012927 176012927 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:176012927C>G uc001gku.1 - 13 1705 c.1449G>C c.(1447-1449)AAG>AAC p.K483N RFWD2_uc001gkv.1_Missense_Mutation_p.K459N|RFWD2_uc001gkw.1_Missense_Mutation_p.K243N|RFWD2_uc009wwv.2_Missense_Mutation_p.K282N|RFWD2_uc001gkt.1_Missense_Mutation_p.K322N NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 483 WD 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CTAACAGGTTCTTATGGTAAC 0.323 NA 55 276 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 185939517 185939517 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:185939517G>T uc001grq.1 + 15 2492 c.2263G>T c.(2263-2265)GGA>TGA p.G755* HMCN1_uc001grr.1_Nonsense_Mutation_p.G96* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 755 Ig-like C2-type 4. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCCTCTCTTGGGACTTTTGAA 0.408 NA 84 191 7.68e-34 1.08e-33 1 0 PTPN7 5778 broad.mit.edu 37 1 202121728 202121728 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:202121728C>T uc001gxm.1 - 8 948 c.817G>A c.(817-819)GAG>AAG p.E273K PTPN7_uc001gxl.1_Missense_Mutation_p.E312K|PTPN7_uc001gxn.1_Missense_Mutation_p.E273K|PTPN7_uc010ppv.1_Missense_Mutation_p.E92K|PTPN7_uc010ppw.1_Missense_Mutation_p.E221K|PTPN7_uc010ppx.1_Missense_Mutation_p.E347K|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.E225K NM_002832 NP_002823 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 273 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity skin(1) 1 TCCTCCACCTCTGCCACTAGG 0.642 NA 16 33 0 0 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204236663 204236663 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:204236663C>G uc001hau.2 - 5 537 c.220G>C c.(220-222)GTT>CTT p.V74L NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 74 PH. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CACTGCTTAACCCCGGAGCTG 0.597 NA 18 51 0 0 0 0 CD34 947 broad.mit.edu 37 1 208062192 208062192 + Splice_Site SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:208062192C>G uc001hgw.1 - 7 1066 c.808_splice c.e7-1 p.L270_splice CD34_uc001hgv.1_Splice_Site_p.L112_splice|CD34_uc001hgx.1_Splice_Site_p.L270_splice|CD34_uc010psj.1_Splice_Site_p.L135_splice NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GGATCCCCAGCTTGAAAAGAA 0.527 NA 64 128 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215953214 215953214 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:215953214G>A uc001hku.1 - 55 11297 c.10910C>T c.(10909-10911)ACC>ATC p.T3637I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3637 Extracellular (Potential).|Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCTGTCAGTGGTGTCAGTGTG 0.498 NA HNSCC(13;0.011) 52 55 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216040365 216040365 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:216040365C>A uc001hku.1 - 44 9216 c.8829G>T c.(8827-8829)GTG>GTT p.V2943V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2943 Fibronectin type-III 16.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGCCCACCTCACGTCGATGG 0.448 NA HNSCC(13;0.011) 35 57 1.05e-18 1.4e-18 1 0 EPRS 2058 broad.mit.edu 37 1 220156625 220156625 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:220156625T>A uc001hly.1 - 22 3476 c.3206A>T c.(3205-3207)AAG>ATG p.K1069M NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1069 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ACCAAGTTTCTTGATCTCAGC 0.423 NA 53 68 0 0 0 0 GALNT2 2590 broad.mit.edu 37 1 230338962 230338962 + Silent SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:230338962C>G uc010pwa.1 + 3 372 c.300C>G c.(298-300)GCC>GCG p.A100A GALNT2_uc010pvy.1_Silent_p.A62A|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 100 Lumenal (Potential). immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACCCTTACGCCCGCAACAAGT 0.552 NA 38 114 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237580388 237580388 + Silent SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:237580388A>T uc001hyl.1 + 11 933 c.813A>T c.(811-813)GCA>GCT p.A271A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 271 Cytoplasmic (By similarity).|MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTTCATGCACGTTCCCTTT 0.423 NA 22 32 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240256593 240256593 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:240256593C>T uc010pyd.1 + 1 1409 c.1184C>T c.(1183-1185)GCT>GTT p.A395V FMN2_uc010pye.1_Missense_Mutation_p.A395V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 395 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCGCGGCCGCTTCCCTGCCC 0.726 NA 21 17 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 240966253 240966253 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:240966253C>T uc001hyv.2 - 16 1640 c.1310G>A c.(1309-1311)CGT>CAT p.R437H RGS7_uc010pyh.1_Missense_Mutation_p.R411H|RGS7_uc010pyj.1_Missense_Mutation_p.R353H|RGS7_uc001hyu.2_Missense_Mutation_p.R437H|RGS7_uc009xgn.1_Missense_Mutation_p.R384H|RGS7_uc001hyw.2_Missense_Mutation_p.R437H|RGS7_uc001hyt.2_Missense_Mutation_p.R269H NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 437 RGS. 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|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTTATAAAACGTGGGTATGA 0.343 NA 54 80 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 240975331 240975331 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:240975331G>T uc001hyv.2 - 14 1299 c.969C>A c.(967-969)AGC>AGA p.S323R RGS7_uc010pyh.1_Missense_Mutation_p.S297R|RGS7_uc010pyj.1_Missense_Mutation_p.S239R|RGS7_uc001hyu.2_Missense_Mutation_p.S323R|RGS7_uc009xgn.1_Missense_Mutation_p.S270R|RGS7_uc001hyw.2_Missense_Mutation_p.S323R|RGS7_uc001hyt.2_Missense_Mutation_p.S155R NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 323 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|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCCTCTGCTGGCTCGGTTCTT 0.393 NA 38 58 1.5e-21 2.03e-21 1 0 OR6F1 343169 broad.mit.edu 37 1 247875907 247875907 + Missense_Mutation SNP T T G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:247875907T>G uc001idj.1 - 1 151 c.151A>C c.(151-153)ACC>CCC p.T51P NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGATGGGAGGTGCTCACCAAC 0.473 NA 41 80 0 0 0 0 ITIH5 80760 broad.mit.edu 37 10 7708844 7708844 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:7708844C>A uc001ijq.2 - 1 91 c.12G>T c.(10-12)CTG>CTT p.L4L ITIH5_uc001ijr.1_Silent_p.L4L NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 4 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 ACAGCCCCAGCAGCAGGAGCA 0.731 NA 5 18 8.13e-05 8.83e-05 1 0 GPR158 57512 broad.mit.edu 37 10 25464376 25464376 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:25464376C>T uc001isj.2 + 1 87 c.27C>T c.(25-27)CTC>CTT p.L9L LOC100128811_uc010qde.1_Intron NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 9 integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACCCCTTACTCCTCTGCCTCC 0.602 NA 23 29 0 0 0 0 GAD2 2572 broad.mit.edu 37 10 26581417 26581417 + Silent SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:26581417T>C uc001isp.2 + 14 1913 c.1410T>C c.(1408-1410)CAT>CAC p.H470H GAD2_uc001isq.2_Silent_p.H470H NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 470 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTGAAGCGCATGTTGATAAAT 0.438 NA 12 20 0 0 0 0 GDF10 2662 broad.mit.edu 37 10 48428899 48428899 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:48428899C>T uc001jfb.2 - 2 1443 c.987G>A c.(985-987)CGG>CGA p.R329R GDF10_uc009xnp.2_Silent_p.R328R|GDF10_uc009xnq.1_Silent_p.R329R NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 329 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GTTTCAGCGCCCGGAAGGGGC 0.682 NA 8 18 0 0 0 0 C10orf71 118461 broad.mit.edu 37 10 50531202 50531202 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:50531202C>A uc010qgp.1 + 3 951 c.612C>A c.(610-612)AAC>AAA p.N204K NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 204 0 AAGTTTCCAACACCCATCAGA 0.532 NA 6 17 0.00198382 0.00209416 1 0 IPMK 253430 broad.mit.edu 37 10 59956302 59956302 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:59956302C>T uc001jkb.2 - 6 1109 c.786G>A c.(784-786)CAG>CAA p.Q262Q NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 262 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 TAGTGGTTGGCTGAGATGAAC 0.353 NA 13 31 0 0 0 0 BICC1 80114 broad.mit.edu 37 10 60560767 60560767 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:60560767C>A uc001jki.1 + 14 1976 c.1976C>A c.(1975-1977)ACA>AAA p.T659K BICC1_uc001jkj.1_Missense_Mutation_p.T300K NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 659 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AAAAGGCAGACAGTGGAACTA 0.403 NA 25 46 4.16e-05 4.58e-05 1 0 FAM13C 220965 broad.mit.edu 37 10 61012595 61012595 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:61012595G>T uc001jkn.2 - 13 1630 c.1496C>A c.(1495-1497)CCA>CAA p.P499Q FAM13C_uc001jko.2_Missense_Mutation_p.P401Q|FAM13C_uc010qid.1_Missense_Mutation_p.P415Q|FAM13C_uc010qie.1_Missense_Mutation_p.P416Q|FAM13C_uc010qif.1_Missense_Mutation_p.P521Q NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 499 ovary(2) 2 GGAGAGAGCTGGTGGTTTTAC 0.448 NA 30 50 1.07e-11 1.32e-11 1 0 PANK1 53354 broad.mit.edu 37 10 91404850 91404850 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:91404850C>T uc001kgp.1 - 1 366 c.210G>A c.(208-210)GCG>GCA p.A70A PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 70 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) gccccccgcgcgccggcccca 0.647 NA 3 2 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917430 97917430 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:97917430G>A uc001klp.2 + 6 2208 c.1351G>A c.(1351-1353)GAT>AAT p.D451N ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.D451N|ZNF518A_uc001klr.2_Missense_Mutation_p.D451N NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CAAGATGATGGATGGAAAACA 0.373 NA 24 80 0 0 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99512906 99512906 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:99512906C>T uc001koo.2 + 10 1209 c.1009C>T c.(1009-1011)CGG>TGG p.R337W ZFYVE27_uc001kon.2_Missense_Mutation_p.R342W|ZFYVE27_uc001koq.2_Missense_Mutation_p.R244W|ZFYVE27_uc010qpa.1_Missense_Mutation_p.R212W|ZFYVE27_uc001kop.2_Missense_Mutation_p.R330W|ZFYVE27_uc010qpb.1_Missense_Mutation_p.R237W|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.R298W|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Missense_Mutation_p.R337W|ZFYVE27_uc001kom.1_Missense_Mutation_p.R330W NM_144588 NP_653189 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 isoform 337 Extracellular (Potential). cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GCTCACGGAGCGGCTCCGCAA 0.672 NA 4 9 0 0 0 0 CUTC 51076 broad.mit.edu 37 10 101510142 101510142 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:101510142T>C uc001kqd.3 + 7 738 c.590T>C c.(589-591)GTG>GCG p.V197A CUTC_uc001kqe.3_Intron NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 197 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GGCAGGATTGTGGTAATGCCA 0.338 NA 20 41 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115392938 115392938 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:115392938G>A uc001laj.2 - 16 1701 c.1537C>T c.(1537-1539)CGT>TGT p.R513C NRAP_uc001lak.2_Missense_Mutation_p.R478C|NRAP_uc001lal.3_Missense_Mutation_p.R513C NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 513 Nebulin 11. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TAGTCAGCACGGTAATTCACC 0.418 NA 15 42 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117026300 117026300 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:117026300C>A uc001lcg.2 + 12 2185 c.1799C>A c.(1798-1800)TCT>TAT p.S600Y NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 600 Kelch 6.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGGGGATTTTCTAGTGTACTC 0.318 NA 35 57 1.6e-16 2.1e-16 1 0 DPYSL4 10570 broad.mit.edu 37 10 134008362 134008362 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:134008362C>T uc009ybb.2 + 4 481 c.327C>T c.(325-327)TTC>TTT p.F109F NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 109 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ACCACGTCTTCCCCGACACGG 0.647 NA 18 49 0 0 0 0 STK32C 282974 broad.mit.edu 37 10 134041490 134041490 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:134041490A>G uc001lle.1 - 3 601 c.461T>C c.(460-462)GTG>GCG p.V154A STK32C_uc001lld.1_Missense_Mutation_p.V37A|STK32C_uc010quu.1_Missense_Mutation_p.V167A|STK32C_uc009ybc.1_Missense_Mutation_p.V37A|STK32C_uc009ybd.1_Missense_Mutation_p.V37A|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 154 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCAGAGGTTCACCAGGAAGAC 0.592 NA 7 9 0 0 0 0 ADAM8 101 broad.mit.edu 37 10 135084731 135084731 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:135084731C>T uc010qva.1 - 12 1281 c.1230G>A c.(1228-1230)GCG>GCA p.A410A ADAM8_uc010quz.1_Silent_p.A449A|ADAM8_uc009ybi.2_Silent_p.A449A P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 410 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) AGGTACCGTGCGCACACTGGG 0.687 NA 4 9 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1162107 1162107 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:1162107G>A uc009ycr.1 + 15 1824 c.1698G>A c.(1696-1698)CAG>CAA p.Q566Q NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 557 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCGTGGGCAGACCTGCGGTA 0.657 NA 3 5 0 0 0 0 CD81 975 broad.mit.edu 37 11 2411680 2411680 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:2411680C>T uc001lwf.1 + 2 338 c.105C>T c.(103-105)CTC>CTT p.L35L CD81_uc001lwg.1_Silent_p.L28L NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 35 Extracellular (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCTGTGGCTCCGCCATGACC 0.622 NA 24 36 0 0 0 0 DENND5A 23258 broad.mit.edu 37 11 9182329 9182329 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:9182329C>T uc001mhl.2 - 12 2622 c.2367G>A c.(2365-2367)GAG>GAA p.E789E DENND5A_uc001mhk.2_Silent_p.E132E|DENND5A_uc010rbw.1_Silent_p.E789E|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 789 RUN 1. liver(1) 1 TCAGGGTGTTCTCTTCCACCC 0.512 NA 29 55 0 0 0 0 ANO3 63982 broad.mit.edu 37 11 26529699 26529699 + Nonsense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:26529699A>T uc001mqt.3 + 5 626 c.481A>T c.(481-483)AAA>TAA p.K161* ANO3_uc010rdr.1_Nonsense_Mutation_p.K145*|ANO3_uc010rds.1_Nonsense_Mutation_p.K15*|ANO3_uc010rdt.1_Nonsense_Mutation_p.K15* NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 161 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAAAGATGGCAAAAAGAGAAT 0.338 NA 8 32 0 0 0 0 MTCH2 23788 broad.mit.edu 37 11 47653242 47653242 + Missense_Mutation SNP G G C rs146228351 by1000genomes TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:47653242G>C uc010rho.1 - 6 580 c.391C>G c.(391-393)CGT>GGT p.R131G MTCH2_uc001nge.2_Missense_Mutation_p.R4G|MTCH2_uc010rhp.1_Intron NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 131 Solcar 2. transport integral to membrane|mitochondrial inner membrane 0 GCAGCAGAACGAGCGATCATC 0.423 NA 16 45 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563127 55563127 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:55563127G>A uc010rim.1 + 1 96 c.96G>A c.(94-96)GTG>GTA p.V32V NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TCTTCCTTGTGTTTCTGCTCA 0.388 NA 15 76 0 0 0 0 OR8H2 390151 broad.mit.edu 37 11 55872956 55872956 + Silent SNP T T G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:55872956T>G uc010riy.1 + 1 438 c.438T>G c.(436-438)ACT>ACG p.T146T NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CTCTCATCACTGGGCCTTATG 0.453 NA HNSCC(53;0.14) 66 100 0 0 0 0 OR8H2 390151 broad.mit.edu 37 11 55873223 55873223 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:55873223G>C uc010riy.1 + 1 705 c.705G>C c.(703-705)CAG>CAC p.Q235H NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.383 NA HNSCC(53;0.14) 39 43 0 0 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604861 58604861 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:58604861C>T uc001nnd.3 - 4 327 c.196G>A c.(196-198)GAT>AAT p.D66N GLYATL2_uc009ymq.2_Missense_Mutation_p.D66N NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 66 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TCCTGGTCATCTTTCATCTCC 0.363 NA 8 64 0 0 0 0 OR4D11 219986 broad.mit.edu 37 11 59271125 59271125 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:59271125T>A uc001noa.1 + 1 77 c.77T>A c.(76-78)GTC>GAC p.V26D NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CAGAGTTTGGTCTTGTTTCTT 0.433 NA 25 72 0 0 0 0 METTL12 751071 broad.mit.edu 37 11 62434253 62434253 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:62434253G>A uc001nug.1 + 3 712 c.453G>A c.(451-453)GTG>GTA p.V151V C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN methyltransferase like 12 precursor 151 mitochondrion methyltransferase activity 0 TGGGGGCTGTGGCTTCTTCAG 0.592 NA 14 51 0 0 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359366 64359366 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:64359366C>G uc001oam.1 + 1 1085 c.338C>G c.(337-339)ACG>AGG p.T113R SLC22A12_uc009ypr.1_Missense_Mutation_p.T113R|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.T113R|SLC22A12_uc001oan.1_Missense_Mutation_p.T113R|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 113 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GAGGCCGACACGGAGCCGTGT 0.672 NA 9 26 0 0 0 0 SNX15 29907 broad.mit.edu 37 11 64795103 64795103 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:64795103G>C uc001oci.3 + 4 747 c.94G>C c.(94-96)GCG>CCG p.A32P SNX15_uc009ypy.2_Missense_Mutation_p.A32P|SNX15_uc001ocj.2_Missense_Mutation_p.A32P|SNX15_uc001ock.2_Missense_Mutation_p.A32P NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 32 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 CAAAGTAACCGCGCAGGTGAG 0.577 NA OREG0021069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 26 0 0 0 0 NLRX1 79671 broad.mit.edu 37 11 119050721 119050721 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:119050721A>T uc001pvu.2 + 7 2206 c.1991A>T c.(1990-1992)AAG>ATG p.K664M NLRX1_uc010rzc.1_Missense_Mutation_p.K486M|NLRX1_uc001pvv.2_Missense_Mutation_p.K664M|NLRX1_uc001pvw.2_Missense_Mutation_p.K664M|NLRX1_uc001pvx.2_Missense_Mutation_p.K664M NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 664 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AAGCTGGGCAAGCTGGGCCGG 0.602 NA 5 22 0 0 0 0 HSPA8 3312 broad.mit.edu 37 11 122930365 122930365 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:122930365G>C uc001pyo.2 - 5 1014 c.936C>G c.(934-936)GGC>GGG p.G312G HSPA8_uc009zbc.2_Silent_p.G76G|HSPA8_uc001pyp.2_Silent_p.G312G|HSPA8_uc010rzu.1_Silent_p.G235G|HSPA8_uc009zbd.1_Silent_p.G312G NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 312 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGTCCAGGGTGCCACGGAACA 0.478 NA 23 39 0 0 0 0 ASAM 79827 broad.mit.edu 37 11 122944443 122944443 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:122944443G>C uc001pyt.2 - 7 1220 c.861C>G c.(859-861)CCC>CCG p.P287P NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 287 Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) AAGAGGAGCTGGGTTTCACAA 0.507 NA 17 76 0 0 0 0 OR8B3 390271 broad.mit.edu 37 11 124266520 124266520 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:124266520G>C uc010saj.1 - 1 728 c.728C>G c.(727-729)TCT>TGT p.S243C OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATGACATGAGAGCTACAAGT 0.383 NA 25 89 0 0 0 0 OR8B3 390271 broad.mit.edu 37 11 124267068 124267068 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:124267068G>A uc010saj.1 - 1 180 c.180C>T c.(178-180)TAC>TAT p.Y60Y OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAGGAAATAGTACATTGGTG 0.378 NA 23 22 0 0 0 0 CHEK1 1111 broad.mit.edu 37 11 125525182 125525182 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr11:125525182G>C uc009zbo.2 + 13 2290 c.1398G>C c.(1396-1398)GTG>GTC p.V466V CHEK1_uc010sbh.1_Silent_p.V482V|CHEK1_uc010sbi.1_Silent_p.V432V|CHEK1_uc001qcf.3_Silent_p.V466V|CHEK1_uc009zbp.2_Silent_p.V466V|CHEK1_uc001qcg.3_Silent_p.V466V|CHEK1_uc009zbq.2_Silent_p.V422V|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Silent_p.V114V NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 466 Autoinhibitory region. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TTGATATTGTGAGCAGCCAGA 0.393 NA Other_conserved_DNA_damage_response_genes 9 18 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9318716 9318716 + Silent SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:9318716T>C uc001qvl.2 - 18 2219 c.2190A>G c.(2188-2190)TCA>TCG p.S730S PZP_uc009zgl.2_Silent_p.S599S|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.S62S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GGACTGGCCCTGAACTTTGTT 0.413 NA 41 96 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20864365 20864365 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:20864365C>A uc001rej.3 + 6 805 c.450C>A c.(448-450)AGC>AGA p.S150R SLCO1C1_uc010sii.1_Missense_Mutation_p.S150R|SLCO1C1_uc010sij.1_Missense_Mutation_p.S150R|SLCO1C1_uc009zip.2_5'UTR|SLCO1C1_uc001rei.2_Missense_Mutation_p.S150R|SLCO1C1_uc010sik.1_Missense_Mutation_p.S32R NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 150 Extracellular (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) CCACTCTCAGCATCTCTCCGT 0.348 NA 22 114 5.35e-11 6.58e-11 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43944888 43944888 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:43944888G>T uc010skx.1 - 2 277 c.277C>A c.(277-279)CTG>ATG p.L93M NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 93 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCGGCGGTCAGGTTCAGCTGG 0.667 NA 22 20 3.8e-18 5.08e-18 1 0 DDX23 9416 broad.mit.edu 37 12 49229995 49229995 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:49229995T>C uc001rsm.2 - 11 1382 c.1291A>G c.(1291-1293)ATC>GTC p.I431V NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 431 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 ACACCAATGATGTCACGATTC 0.507 NA 47 126 0 0 0 0 KRT72 140807 broad.mit.edu 37 12 52979944 52979944 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:52979944C>A uc001sar.2 - 9 1444 c.1358G>T c.(1357-1359)AGC>ATC p.S453I KRT72_uc001saq.2_Missense_Mutation_p.S453I|KRT72_uc010sns.1_Missense_Mutation_p.S411I|KRT72_uc010snt.1_Missense_Mutation_p.S265I NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 453 Tail. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) AGCATTGGTGCTGCTGATGAC 0.587 NA 17 18 9.17e-09 1.09e-08 1 0 OR6C76 390326 broad.mit.edu 37 12 55820894 55820894 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:55820894T>C uc010spm.1 + 1 857 c.857T>C c.(856-858)ATT>ACT p.I286T NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AATCCATTTATTTACACTCTA 0.348 NA 23 20 0 0 0 0 NAB2 4665 broad.mit.edu 37 12 57485439 57485439 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:57485439G>C uc001smz.2 + 2 993 c.615G>C c.(613-615)TCG>TCC p.S205S NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 205 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 AGGCTGGCTCGCCCCCCTTCT 0.726 NA 5 22 0 0 0 0 LGR5 8549 broad.mit.edu 37 12 71978435 71978435 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:71978435C>T uc001swl.2 + 18 2693 c.2645C>T c.(2644-2646)CCC>CTC p.P882L LGR5_uc001swm.2_Missense_Mutation_p.P858L|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 882 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 GACCTGCCTCCCAGTTCCGTG 0.448 NA 66 75 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97303599 97303599 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:97303599C>G uc001teu.3 + 3 401 c.62C>G c.(61-63)TCT>TGT p.S21C NEDD1_uc001tev.3_Missense_Mutation_p.S21C|NEDD1_uc010svc.1_Intron|NEDD1_uc001tew.2_Missense_Mutation_p.S28C|NEDD1_uc001tex.2_5'Flank NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 21 WD 1. cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GATGCTTCATCTATGACATTG 0.348 NA 14 17 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847589 130847589 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:130847589G>A uc001uik.2 + 18 2185 c.2095G>A c.(2095-2097)GTG>ATG p.V699M PIWIL1_uc001uij.1_Missense_Mutation_p.V699M NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 699 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CCGGATCATCGTGTACCGCGA 0.488 NA 8 44 0 0 0 0 IFT88 8100 broad.mit.edu 37 13 21212594 21212594 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:21212594G>A uc001unh.2 + 19 1933 c.1537G>A c.(1537-1539)GCT>ACT p.A513T IFT88_uc001uni.2_Missense_Mutation_p.A504T|IFT88_uc001unj.2_Missense_Mutation_p.A503T|IFT88_uc010tcq.1_Missense_Mutation_p.A484T|IFT88_uc001unk.2_Missense_Mutation_p.A259T NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 513 TPR 7. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TGAGAAGGCCGCTGAATTCTA 0.338 NA 73 52 0 0 0 0 TRPC4 7223 broad.mit.edu 37 13 38357101 38357101 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:38357101C>A uc001uws.2 - 2 605 c.370G>T c.(370-372)GAA>TAA p.E124* TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.E124*|TRPC4_uc010tey.1_Nonsense_Mutation_p.E124*|TRPC4_uc010abw.2_Nonsense_Mutation_p.E124*|TRPC4_uc010abx.2_Nonsense_Mutation_p.E124*|TRPC4_uc010aby.2_Nonsense_Mutation_p.E124* NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 124 ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ACCTGTTTTTCTCCACTAGGT 0.289 NA 42 30 7.05e-23 9.63e-23 1 0 LCP1 3936 broad.mit.edu 37 13 46721147 46721147 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:46721147C>T uc001vaz.3 - 10 1196 c.1070G>A c.(1069-1071)CGA>CAA p.R357Q LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.R357Q NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 357 CH 2.|Actin-binding 1. 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) GGGGTTCCCTCGGACAACATC 0.547 NA T BCL6 NHL 10 86 0 0 0 0 THSD1 55901 broad.mit.edu 37 13 52951683 52951683 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:52951683C>G uc001vgo.2 - 5 2967 c.2422G>C c.(2422-2424)GAG>CAG p.E808Q THSD1_uc001vgp.2_Missense_Mutation_p.E755Q|THSD1_uc010tgz.1_Missense_Mutation_p.E429Q|THSD1_uc010aea.2_Missense_Mutation_p.E269Q NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 808 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) AAGGCAAACTCAGGGTGAGTG 0.488 NA 32 31 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60737866 60737866 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:60737866G>A uc001vht.2 - 1 254 c.35C>T c.(34-36)GCC>GTC p.A12V DIAPH3_uc001vhw.1_Missense_Mutation_p.A12V|DIAPH3_uc010aed.1_Missense_Mutation_p.A12V|DIAPH3_uc010aee.1_Missense_Mutation_p.A12V NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 12 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TGAGCCTTGGGCCGGGTGGTG 0.682 NA 11 8 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70314562 70314562 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:70314562G>T uc001vip.2 - 8 2560 c.1766C>A c.(1765-1767)GCT>GAT p.A589D KLHL1_uc010thm.1_Missense_Mutation_p.A528D NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 589 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGTGCTCCGAGCAATTGACAT 0.378 NA 22 36 5.35e-11 6.58e-11 1 0 TBC1D4 9882 broad.mit.edu 37 13 75898460 75898460 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr13:75898460G>A uc001vjl.1 - 11 2458 c.2111C>T c.(2110-2112)TCT>TTT p.S704F TBC1D4_uc010aer.2_Missense_Mutation_p.S704F|TBC1D4_uc010aes.2_Intron NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 704 Ser-rich. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GGAAGGGGCAGAGAAGGAAGT 0.443 NA 27 34 0 0 0 0 POTEG 404785 broad.mit.edu 37 14 19553564 19553564 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:19553564G>T uc001vuz.1 + 1 200 c.148G>T c.(148-150)GAC>TAC p.D50Y POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 50 ovary(1) 1 TGGAGACCACGACGATTCTGC 0.607 NA 63 537 1.31e-26 1.82e-26 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216207 20216207 + Silent SNP G G C rs150293428 byFrequency TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:20216207G>C uc010tkt.1 + 1 621 c.621G>C c.(619-621)CTG>CTC p.L207L NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTCTGCTGTCTCTTGTCT 0.488 NA 26 95 0 0 0 0 OR11H6 122748 broad.mit.edu 37 14 20692620 20692620 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:20692620G>C uc010tlc.1 + 1 752 c.752G>C c.(751-753)GGT>GCT p.G251A NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 251 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCTGGTGCTGGTCGAACTAAA 0.478 NA 15 12 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 34269385 34269385 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:34269385C>A uc001wru.2 + 12 1936 c.1872C>A c.(1870-1872)GGC>GGA p.G624G NPAS3_uc001wrs.2_Silent_p.G611G|NPAS3_uc001wrt.2_Silent_p.G592G|NPAS3_uc001wrv.2_Silent_p.G594G NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGAGCCCAGGCGGCCTGGACG 0.672 NA 17 6 3.53e-06 3.98e-06 1 0 BAZ1A 11177 broad.mit.edu 37 14 35243604 35243604 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:35243604C>T uc001wsk.2 - 19 3494 c.2926G>A c.(2926-2928)GAA>AAA p.E976K BAZ1A_uc001wsl.2_Missense_Mutation_p.E944K NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 976 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AGCCTTAGTTCAAGTTGCTTT 0.378 NA 10 40 0 0 0 0 LRFN5 145581 broad.mit.edu 37 14 42356760 42356760 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:42356760G>T uc001wvm.2 + 3 2130 c.932G>T c.(931-933)AGG>ATG p.R311M LRFN5_uc010ana.2_Missense_Mutation_p.R311M NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 311 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGCAAAGCCAGGGGAGACCCT 0.468 NA HNSCC(30;0.082) 42 47 3.09e-21 4.2e-21 1 0 FAM179B 23116 broad.mit.edu 37 14 45537659 45537659 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:45537659T>A uc001wvv.2 + 17 4832 c.4623T>A c.(4621-4623)GAT>GAA p.D1541E FAM179B_uc001wvw.2_Missense_Mutation_p.D1594E|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1541 HEAT 5. binding skin(2)|upper_aerodigestive_tract(1) 3 GACTTCATGATTCTAATAGTA 0.279 NA 9 35 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47389219 47389219 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:47389219C>T uc001wwj.3 - 10 2223 c.2027G>A c.(2026-2028)AGG>AAG p.R676K MDGA2_uc001wwi.3_Missense_Mutation_p.R447K|MDGA2_uc010ani.2_Missense_Mutation_p.R236K NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 676 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCTCACCTGCCTGATGCCCAA 0.413 NA 10 27 0 0 0 0 SAV1 60485 broad.mit.edu 37 14 51132094 51132094 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:51132094G>A uc001wyg.1 - 3 499 c.338C>T c.(337-339)TCT>TTT p.S113F SAV1_uc001wyh.1_Missense_Mutation_p.S113F NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 113 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) AAATGACTGAGAAGAACCATA 0.388 NA 13 13 0 0 0 0 NID2 22795 broad.mit.edu 37 14 52481978 52481978 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:52481978G>T uc001wzo.2 - 15 3278 c.3044C>A c.(3043-3045)CCC>CAC p.P1015H NID2_uc010tqs.1_Missense_Mutation_p.P967H|NID2_uc010tqt.1_Missense_Mutation_p.P1015H|NID2_uc001wzp.2_Missense_Mutation_p.P1015H NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1015 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GATGGTCGGGGGCCTCTGGGT 0.582 NA 20 30 4.35e-09 5.19e-09 1 0 NID2 22795 broad.mit.edu 37 14 52509605 52509605 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:52509605G>C uc001wzo.2 - 6 1708 c.1474C>G c.(1474-1476)CAC>GAC p.H492D NID2_uc010tqs.1_Missense_Mutation_p.H492D|NID2_uc010tqt.1_Missense_Mutation_p.H492D|NID2_uc001wzp.2_Missense_Mutation_p.H492D NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 492 EGF-like 1. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CATTGTCTGTGGTTGTGTTCA 0.458 NA 30 46 0 0 0 0 C14orf37 145407 broad.mit.edu 37 14 58598275 58598275 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:58598275C>A uc001xdc.2 - 4 1897 c.1786G>T c.(1786-1788)GTT>TTT p.V596F C14orf37_uc010tro.1_Missense_Mutation_p.V634F|C14orf37_uc001xdd.2_Missense_Mutation_p.V596F|C14orf37_uc001xde.2_Missense_Mutation_p.V596F NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 596 Extracellular (Potential). integral to membrane binding 0 GCTGTATTAACACGAGTAATA 0.478 NA 28 31 2.66e-16 3.46e-16 1 0 DACT1 51339 broad.mit.edu 37 14 59113678 59113678 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:59113678C>T uc001xdw.2 + 4 2501 c.2337C>T c.(2335-2337)AGC>AGT p.S779S DACT1_uc010trv.1_Silent_p.S498S|DACT1_uc001xdx.2_Silent_p.S742S|DACT1_uc010trw.1_Silent_p.S498S NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 779 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CTGAAGAAAGCGGGGGCTTAA 0.542 NA 25 87 0 0 0 0 MPP5 64398 broad.mit.edu 37 14 67768785 67768786 + Missense_Mutation DNP GG GG TT TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:67768785_67768786GG>TT uc001xjc.2 + 6 1217_1218 c.751_752GG>TT c.(751-753)GGA>TTA p.G251L MPP5_uc001xjd.2_Missense_Mutation_p.G217L|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 251 tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) CCAGTATGGAGGAGAAACTGTA 0.416 NA 36 36 0 0 0 0 RDH12 145226 broad.mit.edu 37 14 68192857 68192857 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:68192857G>A uc001xjz.3 + 6 757 c.433G>A c.(433-435)GGA>AGA p.G145R NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 145 G -> E (in retinal dystrophy; exhibits a profound loss of catalytic activity). photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) AACCCACCTGGGAGTCAACCA 0.433 NA 80 90 0 0 0 0 COX16 51241 broad.mit.edu 37 14 70795900 70795900 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:70795900C>T uc001xmb.2 - 3 335 c.195G>A c.(193-195)TCG>TCA p.S65S NM_016468 NP_057552 Q9P0S2 COX16_HUMAN COX16 cytochrome c oxidase assembly homolog 65 integral to membrane|mitochondrial membrane 0 CCTCATATTCCGACTCTAAAG 0.294 NA 20 26 0 0 0 0 RGS6 9628 broad.mit.edu 37 14 72431525 72431525 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:72431525G>A uc001xna.3 + 2 540 c.17G>A c.(16-18)GGG>GAG p.G6E RGS6_uc010ttn.1_Missense_Mutation_p.G6E|RGS6_uc001xmx.3_Missense_Mutation_p.G6E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.G6E NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 6 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) CAAGGATCCGGGGATCAAAGA 0.463 NA 27 76 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79181346 79181346 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:79181346G>T uc001xun.2 + 5 1280 c.789G>T c.(787-789)AAG>AAT p.K263N NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K397N NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 636 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CGGGTGTCAAGTCCTCCTGTT 0.547 NA 29 21 1.07e-11 1.32e-11 1 0 KCNK10 54207 broad.mit.edu 37 14 88707125 88707125 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:88707125C>A uc001xwo.2 - 3 884 c.427G>T c.(427-429)GGA>TGA p.G143* KCNK10_uc001xwm.2_Nonsense_Mutation_p.G148*|KCNK10_uc001xwn.2_Nonsense_Mutation_p.G148* NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 143 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GAAGAGTTTCCTATTGGACTG 0.418 NA 28 87 2.8e-10 3.42e-10 1 0 CCDC88C 440193 broad.mit.edu 37 14 91739649 91739649 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:91739649G>A uc010aty.2 - 30 5506 c.5407C>T c.(5407-5409)CGG>TGG p.R1803W CCDC88C_uc001xzj.2_Missense_Mutation_p.R327W|CCDC88C_uc001xzi.2_Missense_Mutation_p.R253W NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1803 Missing (in Ref. 3; AAH35914). microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CTGAAGGCCCGGCTCAAGGAG 0.697 NA 3 7 0 0 0 0 FAM181A 90050 broad.mit.edu 37 14 94391643 94391643 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:94391643C>A uc001ybz.1 + 2 333 c.26C>A c.(25-27)TCT>TAT p.S9Y C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 9 0 AGAAGATCTTCTGGAGAGAGG 0.557 NA 18 45 8.34e-07 9.52e-07 1 0 DLK1 8788 broad.mit.edu 37 14 101198399 101198399 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:101198399G>A uc001yhs.3 + 4 436 c.283G>A c.(283-285)GCC>ACC p.A95T DLK1_uc001yhu.3_Missense_Mutation_p.A95T NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 95 Extracellular (Potential).|EGF-like 3. multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) CTGCTCCTCGGCCCCCTGTGC 0.597 NA 22 27 0 0 0 0 CDCA4 55038 broad.mit.edu 37 14 105477874 105477874 + Silent SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:105477874T>A uc001yqa.2 - 2 489 c.393A>T c.(391-393)CCA>CCT p.P131P CDCA4_uc001yqb.2_Silent_p.P131P NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 131 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) CTGAGGTGACTGGGCAAAGGT 0.607 NA 20 44 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890312 23890312 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:23890312C>A uc001ywj.3 - 1 864 c.769G>T c.(769-771)GCT>TCT p.A257S NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGGGGCAGCTGCTGTAGCC 0.627 NA 17 53 1.03e-11 1.28e-11 1 0 C15orf2 23742 broad.mit.edu 37 15 24921822 24921822 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:24921822T>C uc001ywo.2 + 1 1282 c.808T>C c.(808-810)TCC>CCC p.S270P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 270 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CGTTGGCTGCTCCCTGCTGCA 0.637 NA 22 17 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922763 24922763 + Silent SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:24922763A>G uc001ywo.2 + 1 2223 c.1749A>G c.(1747-1749)CCA>CCG p.P583P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 583 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTACTGCCCCATCTCAGGTTG 0.488 NA 27 70 0 0 0 0 GABRA5 2558 broad.mit.edu 37 15 27159966 27159966 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:27159966G>T uc001zbd.1 + 8 853 c.514G>T c.(514-516)GAG>TAG p.E172* GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 172 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATCTCTGCAGAGTGCCCCAT 0.478 NA 7 41 0.000157383 0.000169877 1 0 OCA2 4948 broad.mit.edu 37 15 28090152 28090152 + Silent SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:28090152C>G uc001zbh.3 - 23 2495 c.2385G>C c.(2383-2385)GGG>GGC p.G795G OCA2_uc010ayv.2_Silent_p.G771G NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 795 Extracellular (Potential). G -> R (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GTTCTGCAATCCCTGCACACA 0.403 NA Oculocutaneous_Albinism 10 59 0 0 0 0 SLC24A5 283652 broad.mit.edu 37 15 48434324 48434324 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:48434324G>T uc001zwe.2 + 9 1352 c.1279G>T c.(1279-1281)GGA>TGA p.G427* SLC24A5_uc010bel.2_Nonsense_Mutation_p.G367*|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Nonsense_Mutation_p.G58* NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 427 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) ATTTATAAATGGATCAGCTCC 0.363 NA 53 62 5.14e-22 7e-22 1 0 FBN1 2200 broad.mit.edu 37 15 48776017 48776017 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:48776017A>G uc001zwx.1 - 31 4164 c.3836T>C c.(3835-3837)GTA>GCA p.V1279A NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1279 EGF-like 20; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTGCTTACCTACACAAGTCTT 0.383 NA 14 45 0 0 0 0 C15orf33 196951 broad.mit.edu 37 15 49833958 49833958 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:49833958C>A uc001zxl.2 - 10 1087 c.793G>T c.(793-795)GAA>TAA p.E265* C15orf33_uc001zxm.2_Nonsense_Mutation_p.E231* NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 265 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) GGAAATGCTTCATGGAACGTT 0.254 NA 24 95 1.18e-12 1.48e-12 1 0 C15orf33 196951 broad.mit.edu 37 15 49868948 49868948 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:49868948T>C uc001zxl.2 - 7 830 c.536A>G c.(535-537)CAT>CGT p.H179R C15orf33_uc001zxm.2_Missense_Mutation_p.H179R NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 179 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) ATCAAAATTATGGGCTTTTAA 0.299 NA 23 10 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62182498 62182498 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:62182498G>A uc002agz.2 - 67 9281 c.9207C>T c.(9205-9207)GCC>GCT p.A3069A VPS13C_uc002aha.2_Silent_p.A3026A|VPS13C_uc002ahb.1_Silent_p.A3069A|VPS13C_uc002ahc.1_Silent_p.A3026A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3069 protein localization ovary(2) 2 TGGAAACCAAGGCAACATCAT 0.438 NA 10 55 0 0 0 0 DENND4A 10260 broad.mit.edu 37 15 65968863 65968863 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:65968863G>A uc002aph.2 - 23 4535 c.4157C>T c.(4156-4158)TCT>TTT p.S1386F DENND4A_uc002api.2_Missense_Mutation_p.S1429F NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GGTCTCTTGAGAGGAGATAGG 0.458 NA 20 13 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81241181 81241181 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:81241181C>G uc002bfw.1 + 29 4262 c.4002C>G c.(4000-4002)ATC>ATG p.I1334M KIAA1199_uc010unn.1_Missense_Mutation_p.I1334M|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1334 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TCCGGCCCATCTGGGTGACAC 0.532 NA 44 118 0 0 0 0 NTRK3 4916 broad.mit.edu 37 15 88420304 88420304 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:88420304G>A uc002bme.1 - 19 2544 c.2382C>T c.(2380-2382)GTC>GTT p.V794V NTRK3_uc002bmh.2_Silent_p.V772V|NTRK3_uc002bmf.1_Silent_p.V780V NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 794 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTTGGGGCAGACTCGGGGCC 0.522 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 7 42 0 0 0 0 ACAN 176 broad.mit.edu 37 15 89382097 89382097 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:89382097G>T uc010upo.1 + 3 648 c.274G>T c.(274-276)GGG>TGG p.G92W ACAN_uc002bmx.2_Missense_Mutation_p.G92W|ACAN_uc010upp.1_Missense_Mutation_p.G92W|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 92 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCCACTGAAGGGCGCGTGCG 0.632 NA 7 86 1.07e-07 1.25e-07 1 0 FANCI 55215 broad.mit.edu 37 15 89804006 89804006 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:89804006C>G uc010bnp.1 + 4 310 c.220C>G c.(220-222)CAG>GAG p.Q74E FANCI_uc002bnm.1_Missense_Mutation_p.Q74E|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.Q74E|FANCI_uc002bnp.1_5'Flank NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 74 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TTGTTGTATCCAGTTGGTGGA 0.423 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 16 83 0 0 0 0 RHCG 51458 broad.mit.edu 37 15 90020344 90020344 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:90020344C>T uc002bnz.2 - 8 1230 c.1206G>A c.(1204-1206)CTG>CTA p.L402L RHCG_uc002bny.2_Silent_p.L173L|RHCG_uc002boa.2_RNA NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 402 Helical; (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) GGGCCATGGCCAGGGTCACCA 0.567 NA 27 88 0 0 0 0 PEX11A 8800 broad.mit.edu 37 15 90229763 90229763 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:90229763G>A uc002boi.2 - 2 166 c.71C>T c.(70-72)ACA>ATA p.T24I PEX11A_uc010upy.1_Intron NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 24 Cytoplasmic (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CAACATGCATGTGTACTGAGT 0.378 NA 55 48 0 0 0 0 VPS33B 26276 broad.mit.edu 37 15 91546342 91546342 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr15:91546342G>T uc002bqp.1 - 17 1599 c.1245C>A c.(1243-1245)TAC>TAA p.Y415* VPS33B_uc002bqq.1_Nonsense_Mutation_p.Y324*|VPS33B_uc010uqu.1_Nonsense_Mutation_p.Y388* NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 415 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) TCAGAGATCGGTAATCCTTGG 0.458 NA 73 60 6.86e-32 9.64e-32 1 0 C16orf71 146562 broad.mit.edu 37 16 4797521 4797521 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:4797521G>C uc002cxn.2 + 9 1920 c.1458G>C c.(1456-1458)CAG>CAC p.Q486H NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 486 central_nervous_system(1) 1 CCAAGGGGCAGAGCGCCCAGG 0.667 NA 13 15 0 0 0 0 RSL1D1 26156 broad.mit.edu 37 16 11935671 11935671 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:11935671C>A uc002dbp.1 - 7 809 c.736G>T c.(736-738)GAG>TAG p.E246* RSL1D1_uc010buv.1_Nonsense_Mutation_p.E245*|RSL1D1_uc010uyw.1_Nonsense_Mutation_p.E26*|RSL1D1_uc010buw.2_RNA NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 246 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TTCACGCTCTCCCACTTCTGA 0.393 NA 17 24 9.17e-09 1.09e-08 1 0 ABCC1 4363 broad.mit.edu 37 16 16177363 16177363 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:16177363C>T uc010bvi.2 + 17 2431 c.2256C>T c.(2254-2256)ATC>ATT p.I752I ABCC1_uc010bvj.2_Intron|ABCC1_uc010bvk.2_Silent_p.I752I|ABCC1_uc010bvl.2_Silent_p.I752I|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Silent_p.I636I NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 752 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACCTGGAAATCCTGCCCAGTG 0.517 NA 11 60 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20451218 20451218 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:20451218G>A uc002dhe.2 + 13 1780 c.1633G>A c.(1633-1635)GCT>ACT p.A545T NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 545 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 AAGGGTGACTGCTCCATACAA 0.468 NA 21 56 0 0 0 0 KIAA0556 23247 broad.mit.edu 37 16 27752188 27752188 + Nonsense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:27752188C>G uc002dow.2 + 15 2594 c.2570C>G c.(2569-2571)TCA>TGA p.S857* NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 857 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 AGGAGGGGCTCAAGGAAGGAT 0.597 NA 9 14 0 0 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28967303 28967303 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:28967303C>G uc002dru.2 + 4 598 c.583C>G c.(583-585)CTG>GTG p.L195V uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_Translation_Start_Site|NFATC2IP_uc010vdh.1_5'Flank NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 195 cytoplasm|nucleus ovary(1) 1 CTACAGGGATCTGGACAACTC 0.507 NA 20 55 0 0 0 0 ZNF629 23361 broad.mit.edu 37 16 30793202 30793202 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:30793202C>A uc002dzs.1 - 3 2655 c.2447G>T c.(2446-2448)GGC>GTC p.G816V NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AGGGGTCTCGCCCTCACCTTC 0.612 NA 68 72 6.26e-26 8.65e-26 1 0 ZNF668 79759 broad.mit.edu 37 16 31072519 31072519 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:31072519C>A uc010caf.2 - 3 2087 c.1730G>T c.(1729-1731)TGT>TTT p.C577F ZNF668_uc002eao.2_Missense_Mutation_p.C577F NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 577 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 GGCCTTGGGACAATGGGGGCA 0.652 NA 14 60 1.34e-09 1.61e-09 1 0 MYLK3 91807 broad.mit.edu 37 16 46771856 46771856 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:46771856C>T uc002eei.3 - 3 884 c.768G>A c.(766-768)GAG>GAA p.E256E MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 256 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCCTGAGGTTCTCGCTGGGTG 0.647 NA 23 17 0 0 0 0 SLC6A2 6530 broad.mit.edu 37 16 55690666 55690666 + Silent SNP T T G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:55690666T>G uc002eif.2 + 2 171 c.60T>G c.(58-60)GGT>GGG p.G20G SLC6A2_uc010ccd.2_Silent_p.G20G|SLC6A2_uc002eig.2_Silent_p.G20G|SLC6A2_uc002eih.2_Silent_p.G20G NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 20 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CGGACACGGGTCCAGAGCAGC 0.697 NA 6 30 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58594184 58594184 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:58594184G>A uc002env.2 - 17 2355 c.2062C>T c.(2062-2064)CCA>TCA p.P688S CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P688S|CNOT1_uc002enx.2_Missense_Mutation_p.P688S|CNOT1_uc002enz.1_Missense_Mutation_p.P117S|SNORA50_uc002eoa.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 688 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACTCCAGGTGGTGGTTGTCTG 0.428 NA 29 43 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58610398 58610398 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:58610398G>A uc002env.2 - 14 1966 c.1673C>T c.(1672-1674)TCT>TTT p.S558F CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S558F|CNOT1_uc002enx.2_Missense_Mutation_p.S558F|CNOT1_uc002enz.1_5'UTR NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 558 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AAGTATTCGAGACAATTTGGC 0.408 NA 7 39 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 70843905 70843905 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:70843905C>T uc002ezr.2 - 85 14789 c.14661G>A c.(14659-14661)ACG>ACA p.T4887T HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4888 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CAAATGAGAACGTGCCCTGGA 0.488 NA 46 175 0 0 0 0 BCAR1 9564 broad.mit.edu 37 16 75276935 75276935 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:75276935G>A uc002fdv.2 - 2 189 c.66C>T c.(64-66)CTC>CTT p.L22L BCAR1_uc010cgu.2_5'UTR|BCAR1_uc010vna.1_Silent_p.L20L|BCAR1_uc010vnb.1_Silent_p.L68L|BCAR1_uc002fdw.2_Silent_p.L22L|BCAR1_uc010vnc.1_Silent_p.L22L|BCAR1_uc010vnd.1_Silent_p.L40L|BCAR1_uc002fdx.2_Silent_p.L40L NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 22 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) TGCGGAAGGAGAGCTCATCCG 0.627 NA 14 12 0 0 0 0 ZC3H18 124245 broad.mit.edu 37 16 88696916 88696916 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr16:88696916G>C uc002fky.2 + 17 2790 c.2590G>C c.(2590-2592)GGG>CGG p.G864R ZC3H18_uc010voz.1_Missense_Mutation_p.G888R|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.G134R NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 864 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GAAGTCAGGTGGGAGACTGGG 0.637 NA 8 24 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). 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.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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) ATGGCGCGGACGCGGGTGCCG 0.617 111 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) 25 15 7.88e-20 1.06e-19 1 0 MYH10 4628 broad.mit.edu 37 17 8396258 8396258 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:8396258C>T uc002gll.2 - 31 4297 c.4201G>A c.(4201-4203)GCG>ACG p.A1401T MYH10_uc002glm.2_Missense_Mutation_p.A1432T|MYH10_uc010cnx.2_Missense_Mutation_p.A1410T NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1401 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 AGGGCCTCCGCGTCCTTCAGA 0.537 NA 39 22 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10358338 10358338 + Silent SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:10358338T>C uc002gmn.2 - 21 2466 c.2355A>G c.(2353-2355)CTA>CTG p.L785L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 785 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGAGTTGAGCTAGCTTTTCAT 0.448 NA 14 39 0 0 0 0 MPRIP 23164 broad.mit.edu 37 17 17077275 17077275 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:17077275G>A uc002gqu.1 + 18 2531 c.2475G>A c.(2473-2475)GAG>GAA p.E825E MPRIP_uc002gqv.1_Silent_p.E825E|MPRIP_uc002gqw.1_Silent_p.E580E|MPRIP_uc002gqx.1_Silent_p.E1054E|MPRIP_uc002gqy.1_Silent_p.E1054E|MPRIP_uc010cpl.1_Silent_p.E51E|MPRIP_uc010cpm.1_Silent_p.E51E NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 825 Interaction with PPP1R12A.|Potential. cytoplasm|cytoskeleton actin binding 0 TCCTCTCGGAGCAGTACTCGC 0.657 NA 8 21 0 0 0 0 NOS2 4843 broad.mit.edu 37 17 26108077 26108077 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:26108077G>A uc002gzu.2 - 8 1113 c.849C>T c.(847-849)AAC>AAT p.N283N NOS2_uc010crh.1_Silent_p.N283N|NOS2_uc010wab.1_Silent_p.N283N NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 283 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGAATTCCACGTTGGCAGGGT 0.632 NA 25 61 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27409400 27409400 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:27409400G>T uc002hdt.1 - 41 6112 c.5954C>A c.(5953-5955)TCC>TAC p.S1985Y MYO18A_uc010wbc.1_Missense_Mutation_p.S1503Y|MYO18A_uc002hds.2_Missense_Mutation_p.S1512Y|MYO18A_uc010csa.1_Missense_Mutation_p.S1933Y|MYO18A_uc002hdu.1_Missense_Mutation_p.S1970Y NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1985 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGACAACCAGGACTTGACCCC 0.532 NA 21 50 8.05e-18 1.07e-17 1 0 LRRC37B 114659 broad.mit.edu 37 17 30358450 30358450 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:30358450G>T uc002hgu.2 + 5 1960 c.1949G>T c.(1948-1950)TGG>TTG p.W650L LRRC37B_uc010wbx.1_Missense_Mutation_p.W568L|LRRC37B_uc010csu.2_Intron NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 650 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTTCAGGCCTGGCACGGAATG 0.328 NA 11 95 0.000219431 0.00023657 1 0 SPOP 8405 broad.mit.edu 37 17 47696729 47696729 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:47696729G>C uc010dbk.2 - 5 851 c.219C>G c.(217-219)CCC>CCG p.P73P SPOP_uc002ipb.2_Silent_p.P73P|SPOP_uc002ipc.2_Silent_p.P73P|SPOP_uc002ipd.2_Silent_p.P73P|SPOP_uc002ipe.2_Silent_p.P73P|SPOP_uc002ipf.2_Silent_p.P73P|SPOP_uc002ipg.2_Silent_p.P73P NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 73 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 CTAACCCTTTGGGGTTTACTC 0.398 NA Prostate(2;0.17) 15 27 0 0 0 0 KIF2B 84643 broad.mit.edu 37 17 51902367 51902367 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:51902367A>T uc002iua.2 + 1 2129 c.1973A>T c.(1972-1974)AAA>ATA p.K658I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 658 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ATCCAAAAGAAACTGAAATTA 0.458 NA 30 47 0 0 0 0 TBC1D16 125058 broad.mit.edu 37 17 77921571 77921571 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:77921571G>A uc002jxj.2 - 9 1717 c.1601C>T c.(1600-1602)TCG>TTG p.S534L TBC1D16_uc002jxh.2_Missense_Mutation_p.S172L|TBC1D16_uc002jxi.2_Missense_Mutation_p.S159L|TBC1D16_uc002jxk.1_Missense_Mutation_p.S172L NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 534 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CACCAGGTCCGACATCCCTTG 0.602 NA 44 10 0 0 0 0 IMPA2 3613 broad.mit.edu 37 18 11999122 11999122 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr18:11999122G>A uc002kqp.1 + 2 380 c.166G>A c.(166-168)GAA>AAA p.E56K IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_5'UTR|IMPA2_uc002kqq.1_5'UTR NM_014214 NP_055029 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 56 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(2) 2 Lithium(DB01356) TCTTGTGACAGAAACAGATCA 0.423 NA 18 50 0 0 0 0 SLC39A6 25800 broad.mit.edu 37 18 33689681 33689681 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr18:33689681T>A uc010dmy.2 - 10 2433 c.2143A>T c.(2143-2145)AGT>TGT p.S715C NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 715 Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 CCATGGTCACTAGCATCATTG 0.328 NA 33 69 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50731677 50731677 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr18:50731677C>A uc002lfe.1 + 10 2252 c.1665C>A c.(1663-1665)AAC>AAA p.N555K DCC_uc010xdr.1_Missense_Mutation_p.N403K|DCC_uc010dpf.1_Missense_Mutation_p.N210K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 555 Extracellular (Potential).|Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCTATGCAAACGGTCCAGTCC 0.478 NA 48 102 9.58e-29 1.34e-28 1 0 HMHA1 23526 broad.mit.edu 37 19 1080350 1080350 + Silent SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:1080350T>A uc002lqz.1 + 14 2031 c.1800T>A c.(1798-1800)ACT>ACA p.T600T HMHA1_uc010xgd.1_Silent_p.T616T|HMHA1_uc010xge.1_Silent_p.T440T|HMHA1_uc002lra.1_Silent_p.T440T|HMHA1_uc002lrb.1_Silent_p.T483T|HMHA1_uc002lrc.1_Silent_p.T235T|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 600 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGGTGCACTGAGGGCACAC 0.706 NA 6 29 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9045667 9045667 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:9045667G>A uc002mkp.2 - 5 36168 c.35964C>T c.(35962-35964)GCC>GCT p.A11988A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11990 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 TTGTTGTCTTGGCCACAGTGG 0.493 NA 11 47 0 0 0 0 ZNF177 7730 broad.mit.edu 37 19 9492182 9492182 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:9492182G>C uc002mli.2 + 12 1358 c.695G>C c.(694-696)GGA>GCA p.G232A ZNF177_uc002mlj.2_Missense_Mutation_p.G182A|ZNF177_uc002mlk.2_Missense_Mutation_p.G232A NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 232 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCACACTGGAGAGAAGCCT 0.468 NA 34 92 0 0 0 0 RAD23A 5886 broad.mit.edu 37 19 13060139 13060139 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:13060139A>T uc002mvw.1 + 7 839 c.730A>T c.(730-732)ATG>TTG p.M244L RAD23A_uc002mvx.1_Missense_Mutation_p.M243L|RAD23A_uc002mvz.1_Missense_Mutation_p.M243L|RAD23A_uc002mwa.1_Missense_Mutation_p.M244L|RAD23A_uc002mvy.1_Missense_Mutation_p.M78L|RAD23A_uc010xmw.1_Missense_Mutation_p.M79L NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 244 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 GTTCCAGAACATGCGGCAGGT 0.637 NA NER 34 14 0 0 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528864 16528864 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:16528864C>A uc002ndz.1 - 11 1008 c.1002G>T c.(1000-1002)GCG>GCT p.A334A EPS15L1_uc002ndx.2_Silent_p.A334A|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.A224A|EPS15L1_uc010xpf.1_Silent_p.A237A|EPS15L1_uc002nea.1_Silent_p.A334A|EPS15L1_uc010eah.1_Silent_p.A334A|EPS15L1_uc002neb.1_Silent_p.A180A|EPS15L1_uc002nec.1_Silent_p.A334A NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 334 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 ACATAGCTAACGCGAATTGGT 0.562 NA OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 20 6.2e-25 8.54e-25 1 0 SIN3B 23309 broad.mit.edu 37 19 16962311 16962311 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:16962311C>T uc002ney.1 + 6 829 c.815C>T c.(814-816)CCC>CTC p.P272L SIN3B_uc002new.2_Missense_Mutation_p.P272L|SIN3B_uc002nex.2_Missense_Mutation_p.P204L|SIN3B_uc002nez.1_Missense_Mutation_p.P272L NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 272 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 CGCTCCCGGCCCTCGCTCCTC 0.652 NA 11 49 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039991 17039991 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:17039991G>T uc002nfb.2 - 24 3078 c.3046C>A c.(3046-3048)CGC>AGC p.R1016S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 969 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CGGGTGAGGCGCAGTGGCCGC 0.582 NA 19 13 2.46e-09 2.96e-09 1 0 FCHO1 23149 broad.mit.edu 37 19 17892276 17892276 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:17892276C>T uc010ebb.2 + 21 1945 c.1756C>T c.(1756-1758)CCC>TCC p.P586S FCHO1_uc002nhg.3_Missense_Mutation_p.P586S|FCHO1_uc002nhh.2_Missense_Mutation_p.P586S|FCHO1_uc010xpw.1_Missense_Mutation_p.P536S|FCHO1_uc002nhi.2_Missense_Mutation_p.P42S|FCHO1_uc002nhj.2_5'UTR NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 586 breast(1) 1 TTCCCTGAGCCCCTCCCCACT 0.637 NA 18 12 0 0 0 0 WDR62 284403 broad.mit.edu 37 19 36557244 36557244 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:36557244C>A uc002odc.2 + 5 567 c.476C>A c.(475-477)GCG>GAG p.A159E WDR62_uc002odd.2_Missense_Mutation_p.A159E|WDR62_uc002odb.2_Missense_Mutation_p.A159E NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 159 WD 2. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TATGGTGTGGCGTGTGTGGCC 0.562 NA 7 6 1.26e-09 1.52e-09 1 0 ZFP82 284406 broad.mit.edu 37 19 36884242 36884242 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:36884242C>A uc002ody.1 - 5 1235 c.1000G>T c.(1000-1002)GGT>TGT p.G334C NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GGTTTCTCACCAGTATGAAGT 0.433 NA 24 103 7.88e-14 1.01e-13 1 0 ZNF829 374899 broad.mit.edu 37 19 37382725 37382725 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:37382725G>A uc002ofa.1 - 6 1330 c.968C>T c.(967-969)CCT>CTT p.P323L ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATTCATAAGGTTTCTCACC 0.403 NA 17 68 0 0 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676276 37676276 + Silent SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:37676276A>G uc002ofq.2 - 5 2417 c.2163T>C c.(2161-2163)GCT>GCC p.A721A uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.A535A NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 721 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCCACACTCAGCACACACGT 0.463 NA 37 115 0 0 0 0 FAM98C 147965 broad.mit.edu 37 19 38893838 38893838 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:38893838C>T uc002oin.1 + 1 64 c.45C>T c.(43-45)GCC>GCT p.A15A FAM98C_uc002oio.1_Silent_p.A15A|FAM98C_uc010xtz.1_Silent_p.A15A NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 15 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGCGGTGGCCCAGGACCTGC 0.697 NA 18 11 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39322049 39322049 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:39322049T>A uc002ojj.1 - 6 867 c.787A>T c.(787-789)AGC>TGC p.S263C ECH1_uc002oji.2_Missense_Mutation_p.S54C|ECH1_uc010xuk.1_Missense_Mutation_p.S54C|HNRNPL_uc010ege.1_Intron NM_001005335 NP_001005335 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L Error:Variant_position_missing_in_P14866_after_alignment nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GACTCATAGCTGTGGTCTGGG 0.567 NA 40 80 0 0 0 0 PRX 57716 broad.mit.edu 37 19 40901621 40901621 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:40901621C>T uc002onr.2 - 7 2907 c.2638G>A c.(2638-2640)GAG>AAG p.E880K PRX_uc002onq.2_Missense_Mutation_p.E741K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 880 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCACCCGCTCTCCCTTGCCC 0.632 NA 9 26 0 0 0 0 IRGQ 126298 broad.mit.edu 37 19 44096234 44096234 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:44096234C>T uc002oww.2 - 2 1934 c.1816G>A c.(1816-1818)GAT>AAT p.D606N IRGQ_uc010eiv.2_Missense_Mutation_p.D606N NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 606 Ala-rich. protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) CGCATCTCATCGAGAGCCTGC 0.682 NA 16 93 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49484827 49484827 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:49484827C>A uc002plp.2 - 8 1370 c.1129G>T c.(1129-1131)GTG>TTG p.V377L GYS1_uc010xzy.1_Missense_Mutation_p.V10L|GYS1_uc010emm.2_Missense_Mutation_p.V313L|GYS1_uc010xzz.1_Missense_Mutation_p.V297L|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 377 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AGGGTTTCCACGTTGAAATTG 0.597 NA 26 18 2.5e-26 3.46e-26 1 0 LILRA2 11027 broad.mit.edu 37 19 55087488 55087488 + Missense_Mutation SNP C C A rs140195058 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:55087488C>A uc002qgg.3 + 6 1256 c.1167C>A c.(1165-1167)CAC>CAA p.H389Q LILRA2_uc010ern.2_Missense_Mutation_p.H389Q|LILRA2_uc002qgf.2_Missense_Mutation_p.H389Q|LILRA2_uc010yfe.1_Missense_Mutation_p.H389Q|LILRA2_uc010yff.1_Missense_Mutation_p.H377Q|LILRA2_uc010ero.2_Missense_Mutation_p.H377Q|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 389 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCTCAGCCCACGTGGGGACCT 0.622 NA 43 78 9.15e-12 1.14e-11 1 0 NLRP8 126205 broad.mit.edu 37 19 56473475 56473475 + Missense_Mutation SNP A A C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:56473475A>C uc002qmh.2 + 4 2156 c.2085A>C c.(2083-2085)TTA>TTC p.L695F NLRP8_uc010etg.2_Missense_Mutation_p.L695F NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 695 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGCAAGACTTATGCTCTGTGT 0.493 NA 44 85 0 0 0 0 AURKC 6795 broad.mit.edu 37 19 57744010 57744010 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:57744010C>G uc002qoe.2 + 4 586 c.397C>G c.(397-399)CAG>GAG p.Q133E AURKC_uc002qoc.2_Missense_Mutation_p.Q114E|AURKC_uc002qod.2_Missense_Mutation_p.Q99E|AURKC_uc010etv.2_Missense_Mutation_p.Q130E NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 133 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CAAGGAGCTGCAGAAAAGCGA 0.542 NA 15 67 0 0 0 0 TTC15 51112 broad.mit.edu 37 2 3469391 3469391 + Silent SNP G G C rs116179331 byFrequency TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:3469391G>C uc002qxm.1 + 9 1907 c.1701G>C c.(1699-1701)GCG>GCC p.A567A TTC15_uc002qxn.1_Silent_p.A567A|TTC15_uc010ewm.1_Silent_p.A573A NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 567 TPR 1. binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CCGTGGAGGCGTATCATTCGG 0.527 NA 53 67 0 0 0 0 FOSL2 2355 broad.mit.edu 37 2 28634831 28634831 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:28634831T>C uc002rma.2 + 4 1306 c.497T>C c.(496-498)CTG>CCG p.L166P FOSL2_uc010ymi.1_Missense_Mutation_p.L127P NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 166 Leucine-zipper. cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) AAGTCAGGCCTGCAGAAGGAG 0.582 NA 3 58 0 0 0 0 VRK2 7444 broad.mit.edu 37 2 58373570 58373570 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:58373570G>T uc002rzo.2 + 15 1888 c.1143G>T c.(1141-1143)GAG>GAT p.E381D VRK2_uc010fcb.2_Missense_Mutation_p.E381D|VRK2_uc002rzs.2_Missense_Mutation_p.E381D|VRK2_uc002rzr.2_Missense_Mutation_p.E381D|VRK2_uc010fcc.2_Missense_Mutation_p.E263D|VRK2_uc002rzv.2_Missense_Mutation_p.E381D|VRK2_uc010fcd.2_Missense_Mutation_p.E358D|VRK2_uc002rzp.2_Missense_Mutation_p.E381D|VRK2_uc010ypg.1_Missense_Mutation_p.E381D|VRK2_uc002rzq.2_Missense_Mutation_p.E381D|VRK2_uc002rzu.2_Missense_Mutation_p.E381D|VRK2_uc002rzt.2_Missense_Mutation_p.E263D NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 381 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TGCAGAAAGAGGAGAAACTGA 0.403 NA 11 40 2.81e-09 3.37e-09 1 0 ALMS1 7840 broad.mit.edu 37 2 73718480 73718480 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:73718480C>T uc002sje.1 + 12 9508 c.9397C>T c.(9397-9399)CTT>TTT p.L3133F ALMS1_uc002sjf.1_Missense_Mutation_p.L3089F|ALMS1_uc002sjg.2_Missense_Mutation_p.L2519F|ALMS1_uc002sjh.1_Missense_Mutation_p.L2519F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3131 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACAGCCTTCTCTTCCAGACAG 0.393 NA 42 67 0 0 0 0 MOGS 7841 broad.mit.edu 37 2 74691753 74691753 + Missense_Mutation SNP A A C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:74691753A>C uc010ffj.2 - 2 612 c.449T>G c.(448-450)TTC>TGC p.F150C MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.F31C|MOGS_uc010ffi.2_Missense_Mutation_p.F44C|MOGS_uc010yru.1_Intron NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 150 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GCCGTCGTGGAACTCCCAGCC 0.657 NA 26 55 0 0 0 0 FAM176A 84141 broad.mit.edu 37 2 75720630 75720630 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:75720630C>T uc002sni.2 - 4 669 c.191G>A c.(190-192)AGG>AAG p.R64K FAM176A_uc002snj.1_Missense_Mutation_p.R51K|FAM176A_uc002snk.1_Missense_Mutation_p.R64K NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 64 apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 GGGACGCCGCCTGCAGTCTGT 0.607 NA 25 29 0 0 0 0 SNRNP200 23020 broad.mit.edu 37 2 96963242 96963242 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:96963242C>A uc002svu.2 - 11 1322 c.1236G>T c.(1234-1236)GAG>GAT p.E412D NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 412 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 AAACCAGGTCCTCCAAGTCCA 0.512 NA 11 18 5.17e-11 6.38e-11 1 0 ANKRD36 375248 broad.mit.edu 37 2 97869830 97869830 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:97869830G>C uc010yva.1 + 49 3229 c.2985G>C c.(2983-2985)TTG>TTC p.L995F ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 995 0 CACCAGGCTTGAAGGTAATGA 0.308 NA 4 11 0 0 0 0 ANAPC1 64682 broad.mit.edu 37 2 112541901 112541901 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:112541901T>A uc002thi.2 - 41 5241 c.4994A>T c.(4993-4995)CAG>CTG p.Q1665L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1665 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CCAGCTTACCTGCTTTAAAAG 0.438 NA 37 138 0 0 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121995390 121995390 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:121995390G>A uc002tmx.2 - 9 990 c.897C>T c.(895-897)CCC>CCT p.P299P TFCP2L1_uc010flr.2_Silent_p.P299P NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 299 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) CACTGCCCACGGGCAGGGCCT 0.652 NA 13 22 0 0 0 0 NCKAP5 344148 broad.mit.edu 37 2 133721320 133721320 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:133721320C>T uc002ttp.2 - 8 926 c.552G>A c.(550-552)TTG>TTA p.L184L NCKAP5_uc002ttq.2_Silent_p.L184L|NCKAP5_uc002tts.1_Silent_p.L159L NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 184 Potential. protein binding 0 TCTCTAATAGCAATTTGGTCT 0.368 NA 48 102 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160035608 160035608 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:160035608C>T uc002uag.2 + 14 2718 c.2444C>T c.(2443-2445)CCG>CTG p.P815L TANC1_uc010fol.1_Missense_Mutation_p.P709L|TANC1_uc010zcm.1_Missense_Mutation_p.P807L|TANC1_uc010fom.1_Missense_Mutation_p.P621L|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 815 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TTCTGCCACCCGTCCTTCAGG 0.577 NA 45 73 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163374347 163374347 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:163374347C>A uc002uch.1 - 4 997 c.785G>T c.(784-786)AGA>ATA p.R262I KCNH7_uc002uci.2_Missense_Mutation_p.R262I NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 262 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTCCCTTGATCTGGAATGGGA 0.493 NA 42 56 4.33e-17 5.7e-17 1 0 KCNH7 90134 broad.mit.edu 37 2 163393462 163393462 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:163393462G>T uc002uch.1 - 3 648 c.436C>A c.(436-438)CCA>ACA p.P146T KCNH7_uc002uci.2_Missense_Mutation_p.P146T NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 146 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GGTAATATTGGGTTTACCCTC 0.378 NA 63 98 1.84e-34 2.6e-34 1 0 ABCB11 8647 broad.mit.edu 37 2 169780147 169780147 + Silent SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:169780147T>C uc002ueo.1 - 28 4077 c.3951A>G c.(3949-3951)GGA>GGG p.G1317G ABCB11_uc010zda.1_Silent_p.G735G|ABCB11_uc010zdb.1_Silent_p.G793G NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1317 Cytoplasmic (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGATGGGGGATCCAGTGGTGA 0.468 NA 19 58 0 0 0 0 EVX2 344191 broad.mit.edu 37 2 176947080 176947080 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:176947080G>T uc010zeu.1 - 2 711 c.525C>A c.(523-525)AGC>AGA p.S175R NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 175 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCAGCGCCGCGCTCCCGCCGC 0.721 NA 9 21 1.59e-06 1.8e-06 1 0 TTN 7273 broad.mit.edu 37 2 179466061 179466061 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179466061C>T uc010zfg.1 - 236 48183 c.47959G>A c.(47959-47961)GCA>ACA p.A15987T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A9682T|TTN_uc010zfi.1_Missense_Mutation_p.A9615T|TTN_uc010zfj.1_Missense_Mutation_p.A9490T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16914 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) CGGTTTTCTGCTCGCACACGG 0.433 NA 30 51 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179578646 179578646 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179578646G>T uc010zfg.1 - 89 23231 c.23007C>A c.(23005-23007)TGC>TGA p.C7669* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.C4330* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8596 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) ATGAAGCTGTGCAGCTGTCTT 0.408 NA 25 35 5.62e-17 7.4e-17 1 0 TTN 7273 broad.mit.edu 37 2 179587165 179587165 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179587165A>T uc010zfg.1 - 74 18841 c.18617T>A c.(18616-18618)GTG>GAG p.V6206E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2867E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7133 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) ATACCAGCACACTTGGATGGG 0.388 NA 63 82 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179611834 179611834 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179611834G>A uc002unb.2 - 46 15517 c.15293C>T c.(15292-15294)CCC>CTC p.P5098L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 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) CTCTCCTGGGGGTGTGGAGTA 0.522 NA 58 89 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179612195 179612195 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179612195T>C uc002unb.2 - 46 15156 c.14932A>G c.(14932-14934)AGT>GGT p.S4978G TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 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) ATTTCTTCACTGGTTGTACTT 0.383 NA 34 92 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179613197 179613197 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179613197G>A uc002unb.2 - 46 14154 c.13930C>T c.(13930-13932)CAT>TAT p.H4644Y TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 758 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) TCTTTATAATGTATTTCCTGC 0.358 NA 67 124 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179639115 179639115 + Silent SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:179639115T>C uc010zfg.1 - 30 7100 c.6876A>G c.(6874-6876)CCA>CCG p.P2292P TTN_uc010zfh.1_Silent_p.P2246P|TTN_uc010zfi.1_Silent_p.P2246P|TTN_uc010zfj.1_Silent_p.P2246P|TTN_uc002unb.2_Silent_p.P2292P|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2292 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) CTATATTTTCTGGGGATACAA 0.383 NA 60 95 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196891496 196891496 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:196891496T>A uc002utj.3 - 7 756 c.655A>T c.(655-657)AGG>TGG p.R219W NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 219 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGGATTTCCTTACACTAAGA 0.294 NA 8 23 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212495206 212495206 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:212495206C>A uc002veg.1 - 17 2158 c.2060G>T c.(2059-2061)AGA>ATA p.R687I ERBB4_uc002veh.1_Missense_Mutation_p.R687I|ERBB4_uc010zji.1_Missense_Mutation_p.R677I|ERBB4_uc010zjj.1_Missense_Mutation_p.R677I|ERBB4_uc010fut.1_Missense_Mutation_p.R687I NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 687 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAAGAATCTTCTCAAGGCTCT 0.388 NA TSP Lung(8;0.080) 25 75 3.08e-08 3.63e-08 1 0 SPHKAP 80309 broad.mit.edu 37 2 228884000 228884000 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr2:228884000C>G uc002vpq.2 - 7 1617 c.1570G>C c.(1570-1572)GTG>CTG p.V524L SPHKAP_uc002vpp.2_Missense_Mutation_p.V524L|SPHKAP_uc010zlx.1_Missense_Mutation_p.V524L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 524 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCGAGACCACTTGCTCCATT 0.512 NA 30 16 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9525142 9525142 + Splice_Site SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:9525142C>A uc002wnl.2 - 9 2289 c.1744_splice c.e9-1 p.I582_splice PAK7_uc002wnk.2_Splice_Site_p.I582_splice|PAK7_uc002wnj.2_Splice_Site_p.I582_splice|PAK7_uc010gby.1_Intron NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ACAACTTTATCTGAAAAGGAA 0.388 NA 12 45 4.38e-07 5.04e-07 1 0 SEL1L2 80343 broad.mit.edu 37 20 13847353 13847353 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:13847353C>A uc010gcf.2 - 15 1481 c.1399G>T c.(1399-1401)GTG>TTG p.V467L SEL1L2_uc002woq.3_Missense_Mutation_p.V328L|SEL1L2_uc010zrl.1_Missense_Mutation_p.V467L|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 467 Extracellular (Potential).|Sel1-like 9. integral to membrane binding ovary(2) 2 TTTACCTCCACAGCAGTTCTG 0.398 NA 32 51 6.01e-18 8e-18 1 0 SEL1L2 80343 broad.mit.edu 37 20 13847424 13847424 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:13847424G>A uc010gcf.2 - 15 1410 c.1328C>T c.(1327-1329)CCC>CTC p.P443L SEL1L2_uc002woq.3_Missense_Mutation_p.P304L|SEL1L2_uc010zrl.1_Missense_Mutation_p.P443L|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 443 Extracellular (Potential).|Sel1-like 9. integral to membrane binding ovary(2) 2 AATGGCAAGGGGCTGCCCACT 0.408 NA 32 41 0 0 0 0 NINL 22981 broad.mit.edu 37 20 25456905 25456905 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:25456905C>A uc002wux.1 - 17 3096 c.3022G>T c.(3022-3024)GGG>TGG p.G1008W NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1008 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TTGTGACACCCAGGCTCCAGG 0.677 NA 35 25 1.6e-16 2.1e-16 1 0 DEFB118 117285 broad.mit.edu 37 20 29960690 29960690 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:29960690G>C uc002wvr.2 + 2 115 c.89G>C c.(88-90)AGA>ACA p.R30T NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 30 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCTGGAACAGATCAGGGCAC 0.403 NA 6 30 0 0 0 0 C20orf117 140710 broad.mit.edu 37 20 35422872 35422872 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:35422872C>A uc002xgd.1 - 14 3226 c.2899G>T c.(2899-2901)GGG>TGG p.G967W C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 967 0 Myeloproliferative disorder(115;0.00874) TCTGGATCCCCTGGCTCGGAG 0.612 NA 28 32 1.77e-15 2.28e-15 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869128 36869128 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:36869128G>T uc002xhy.1 - 3 1677 c.1405C>A c.(1405-1407)CCT>ACT p.P469T KIAA1755_uc002xhz.1_Missense_Mutation_p.P469T NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 469 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TTGAGCCCAGGAGTGGGGGGC 0.552 NA 17 43 4.76e-15 6.13e-15 1 0 SPATA2 9825 broad.mit.edu 37 20 48522917 48522917 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:48522917G>T uc010gie.2 - 3 1152 c.802C>A c.(802-804)CTG>ATG p.L268M SPATA2_uc002xuw.2_Missense_Mutation_p.L268M|SPATA2_uc010zyn.1_Missense_Mutation_p.L131M NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 268 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GAGGCCTTCAGGGGTGGCTTC 0.617 NA 30 38 2.85e-18 3.82e-18 1 0 FAM65C 140876 broad.mit.edu 37 20 49225879 49225879 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:49225879G>C uc002xvm.2 - 8 897 c.579C>G c.(577-579)ATC>ATG p.I193M FAM65C_uc010zyt.1_Missense_Mutation_p.I197M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.I193M NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 193 ovary(2) 2 GGGCCCCCTCGATGAGCCACA 0.647 NA 6 11 0 0 0 0 DOK5 55816 broad.mit.edu 37 20 53227044 53227044 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:53227044G>C uc002xwy.2 + 6 937 c.717G>C c.(715-717)CAG>CAC p.Q239H DOK5_uc010gin.2_Missense_Mutation_p.Q131H|DOK5_uc002xwz.2_Missense_Mutation_p.Q101H NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 239 insulin receptor binding ovary(1) 1 Colorectal(105;0.202) GCTTGCTACAGAGTGTGAAAA 0.498 NA 11 31 0 0 0 0 TAF4 6874 broad.mit.edu 37 20 60584179 60584179 + Nonsense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:60584179T>A uc002ybs.2 - 5 1813 c.1813A>T c.(1813-1815)AAA>TAA p.K605* NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 605 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GAAGCCAGTTTTATTAACGTA 0.348 NA 38 51 0 0 0 0 OPRL1 4987 broad.mit.edu 37 20 62729191 62729191 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:62729191C>G uc002yic.2 + 4 672 c.270C>G c.(268-270)ATC>ATG p.I90M OPRL1_uc002yid.2_Missense_Mutation_p.I90M|OPRL1_uc002yif.3_Missense_Mutation_p.I85M NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 90 Helical; Name=2; (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) ATATTTACATCTTTAACCTGG 0.577 NA 42 116 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62837126 62837126 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr20:62837126G>T uc002yii.2 + 6 734 c.370G>T c.(370-372)GAG>TAG p.E124* MYT1_uc002yih.2_Nonsense_Mutation_p.E124*|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 124 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGGACAGGACGAGATTCATCG 0.587 NA 7 24 8.13e-05 8.83e-05 1 0 MICAL3 57553 broad.mit.edu 37 22 18273802 18273802 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr22:18273802C>A uc002zng.3 - 31 6139 c.5786G>T c.(5785-5787)CGA>CTA p.R1929L MICAL3_uc011agl.1_Missense_Mutation_p.R1845L|MICAL3_uc010grd.1_Missense_Mutation_p.R45L|MICAL3_uc010gre.1_RNA NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1929 Potential. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CTGCTGCAGTCGACTCTGCCG 0.662 NA 9 14 1.13e-05 1.26e-05 1 0 RIMBP3 85376 broad.mit.edu 37 22 20458180 20458180 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr22:20458180T>A uc002zsd.3 - 1 3607 c.3122A>T c.(3121-3123)TAC>TTC p.Y1041F NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CTGGAAGGTGTAGCAGCTCAC 0.642 NA 4 29 0 0 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843194 22843194 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr22:22843194G>C uc002zwc.1 - 4 1306 c.530C>G c.(529-531)ACT>AGT p.T177S LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TACTTCGAAAGTGGAAAGTTG 0.383 NA 68 66 0 0 0 0 ADRBK2 157 broad.mit.edu 37 22 26040617 26040617 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr22:26040617G>A uc003abx.3 + 3 396 c.249G>A c.(247-249)GTG>GTA p.V83V ADRBK2_uc010gux.2_Silent_p.V83V|ADRBK2_uc003abw.2_5'UTR|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 83 N-terminal.|RGS. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) TACCTCAGGTGAAGTTTTATG 0.279 NA 8 15 0 0 0 0 HPS4 89781 broad.mit.edu 37 22 26860632 26860632 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr22:26860632T>C uc003acl.2 - 11 1623 c.964A>G c.(964-966)AGG>GGG p.R322G HPS4_uc003aci.2_Missense_Mutation_p.R317G|HPS4_uc003acj.2_Missense_Mutation_p.R186G|HPS4_uc003ack.2_Missense_Mutation_p.R113G|HPS4_uc003acn.2_Missense_Mutation_p.R168G|HPS4_uc010gvd.1_Missense_Mutation_p.R340G|HPS4_uc003ach.2_Missense_Mutation_p.R57G NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 322 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TTCTCCTTCCTGCCATCTGGA 0.587 NA Hermansky-Pudlak_syndrome 16 67 0 0 0 0 CAND2 23066 broad.mit.edu 37 3 12868994 12868994 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:12868994C>T uc003bxk.2 + 13 3315 c.3266C>T c.(3265-3267)GCG>GTG p.A1089V CAND2_uc003bxj.2_Missense_Mutation_p.A972V NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 1089 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 GTGCGGAAGGCGGCCTTTGAA 0.562 NA 3 41 0 0 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37034472 37034472 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:37034472C>A uc003cgk.2 - 1 324 c.97G>T c.(97-99)GAG>TAG p.E33* MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 33 endoplasmic reticulum 0 CCATCGCCCTCCGGAGGCTCC 0.607 NA 23 15 3.84e-06 4.32e-06 1 0 ZDHHC3 51304 broad.mit.edu 37 3 45000811 45000811 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:45000811G>A uc003cod.2 - 2 392 c.118C>T c.(118-120)CGT>TGT p.R40C ZDHHC3_uc003cog.2_Missense_Mutation_p.R40C|ZDHHC3_uc011bad.1_Missense_Mutation_p.R40C NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 isoform 2 40 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) CAGCCGTCACGGATAAACCAC 0.547 NA 45 36 0 0 0 0 DOCK3 1795 broad.mit.edu 37 3 51399418 51399418 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:51399418A>T uc011bds.1 + 48 5158 c.5135A>T c.(5134-5136)CAC>CTC p.H1712L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1712 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GACCTGTACCACCACATGCAG 0.552 NA 9 5 0 0 0 0 ROBO1 6091 broad.mit.edu 37 3 78701019 78701019 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:78701019T>A uc003dqe.2 - 19 2883 c.2675A>T c.(2674-2676)GAT>GTT p.D892V ROBO1_uc003dqb.2_Missense_Mutation_p.D853V|ROBO1_uc003dqc.2_Missense_Mutation_p.D856V|ROBO1_uc003dqd.2_Missense_Mutation_p.D856V|ROBO1_uc010hoh.2_Missense_Mutation_p.D84V|ROBO1_uc011bgl.1_Missense_Mutation_p.D464V NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 892 Extracellular (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTTCACCACATCTGAAATCTG 0.498 NA 51 39 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 85984983 85984983 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:85984983C>A uc003dqj.2 + 6 1366 c.740C>A c.(739-741)ACT>AAT p.T247N CADM2_uc003dqk.2_Missense_Mutation_p.T256N|CADM2_uc003dql.2_Missense_Mutation_p.T249N NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 247 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TTAATTTTGACTTGTGAATCC 0.308 NA 57 43 6.13e-21 8.29e-21 1 0 CRYBG3 131544 broad.mit.edu 37 3 97596761 97596761 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:97596761G>T uc003drx.2 + 1 943 c.879G>T c.(877-879)CTG>CTT p.L293L NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 ATCAGTATCTGCAGACTTCCC 0.418 NA 10 56 7.04e-09 8.38e-09 1 0 ZBTB11 27107 broad.mit.edu 37 3 101390839 101390839 + Nonsense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:101390839T>A uc003dve.3 - 2 759 c.529A>T c.(529-531)AAA>TAA p.K177* ZBTB11_uc003dvf.2_Nonsense_Mutation_p.K177* NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGTTCATGTTTGGATACTGGC 0.388 NA 14 59 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108335438 108335438 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:108335438G>A uc003dxd.2 + 5 731 c.309G>A c.(307-309)TTG>TTA p.L103L DZIP3_uc003dxf.1_Silent_p.L103L|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.L103L NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 103 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTCCTGCTTTGACTTTACGTT 0.353 NA 20 62 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121260261 121260261 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:121260261G>T uc003eee.3 - 3 538 c.409C>A c.(409-411)CGG>AGG p.R137R NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 137 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GCTTTCTTCCGCATTTCCAAA 0.353 NA DNA_polymerases_(catalytic_subunits) 47 176 1.01e-21 1.37e-21 1 0 SEMA5B 54437 broad.mit.edu 37 3 122629074 122629074 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:122629074C>A uc003efz.1 - 23 3676 c.3372G>T c.(3370-3372)ACG>ACT p.T1124T SEMA5B_uc011bju.1_Silent_p.T1030T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.T102T NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1124 Cytoplasmic (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) AGTAAGTAGTCGTGTACACAT 0.547 NA 12 54 1.36e-13 1.74e-13 1 0 KALRN 8997 broad.mit.edu 37 3 124048750 124048750 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:124048750G>A uc003ehg.2 + 8 1448 c.1321G>A c.(1321-1323)GGT>AGT p.G441S KALRN_uc010hrv.1_Missense_Mutation_p.G441S|KALRN_uc003ehf.1_Missense_Mutation_p.G441S|KALRN_uc011bjy.1_Missense_Mutation_p.G441S NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 441 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GTGCAGTGAAGGTGGTCTGCC 0.577 NA 34 32 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126739087 126739087 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:126739087A>T uc003ejg.2 + 20 3873 c.3869A>T c.(3868-3870)GAC>GTC p.D1290V NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1313 Potential.|Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CTGACCAATGACCTGGACGGT 0.627 NA 20 37 0 0 0 0 GATA2 2624 broad.mit.edu 37 3 128202703 128202703 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:128202703C>T uc003ekm.3 - 5 1452 c.1017G>A c.(1015-1017)CTG>CTA p.L339L GATA2_uc003ekn.3_Silent_p.L339L|GATA2_uc003eko.2_Silent_p.L339L NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 339 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) CCGCTCCTACCAGTCTTCGCT 0.602 NA Mis AML(CML blast transformation) 3 49 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130405134 130405134 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:130405134C>T uc003enj.2 - 15 3977 c.3396G>A c.(3394-3396)GCG>GCA p.A1132A NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1132 WD 3. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTAAAGTCCACGCATTGCTTG 0.473 NA 26 45 0 0 0 0 PRR23B 389151 broad.mit.edu 37 3 138738793 138738793 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:138738793C>A uc003esy.1 - 1 976 c.711G>T c.(709-711)CCG>CCT p.P237P NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 237 Pro-rich. breast(1) 1 TCCCCACGCACGGAGAGGGAG 0.662 NA 14 18 7.93e-07 9.07e-07 1 0 ZIC1 7545 broad.mit.edu 37 3 147128846 147128846 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:147128846C>G uc003ewe.2 + 1 1666 c.947C>G c.(946-948)TCC>TGC p.S316C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 316 C2H2-type 3. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTCGCGCGCTCCGAGAATTTA 0.552 NA 30 31 0 0 0 0 AGTR1 185 broad.mit.edu 37 3 148459210 148459210 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:148459210A>T uc003ewg.2 + 4 834 c.388A>T c.(388-390)ATT>TTT p.I130F AGTR1_uc003ewh.2_Missense_Mutation_p.I130F|AGTR1_uc003ewi.2_Missense_Mutation_p.I130F|AGTR1_uc003ewj.2_Missense_Mutation_p.I130F|AGTR1_uc003ewk.2_Missense_Mutation_p.I130F NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 130 Cytoplasmic (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) ATACCTGGCTATTGTTCACCC 0.498 NA 64 225 0 0 0 0 MME 4311 broad.mit.edu 37 3 154860118 154860118 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:154860118A>T uc010hvr.1 + 12 1398 c.1187A>T c.(1186-1188)AAG>ATG p.K396M MME_uc003fab.1_Missense_Mutation_p.K396M|MME_uc003fac.1_Missense_Mutation_p.K396M|MME_uc003fad.1_Missense_Mutation_p.K396M|MME_uc003fae.1_Missense_Mutation_p.K396M NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 396 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GCTTTCCGCAAGGTGAAGAAA 0.388 NA 10 107 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155200709 155200709 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:155200709C>A uc011bok.1 - 23 3407 c.3130G>T c.(3130-3132)GTA>TTA p.V1044L PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.V1006L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1044 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCAGTAGATACAATGGTGTCC 0.453 NA 38 160 7.53e-24 1.03e-23 1 0 C3orf33 285315 broad.mit.edu 37 3 155493562 155493562 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:155493562G>A uc003fal.1 - 4 391 c.121C>T c.(121-123)CGC>TGC p.R41C C3orf33_uc003fam.1_Missense_Mutation_p.R84C NM_173657 NP_775928 Q96NB5 Q96NB5_HUMAN hypothetical protein LOC285315 41 hydrolase activity, acting on ester bonds|nucleic acid binding 0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTTATTCGGCGTAATCGTCCA 0.303 NA 37 110 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170819288 170819288 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:170819288C>T uc003fhh.2 - 22 2886 c.2541G>A c.(2539-2541)GAG>GAA p.E847E TNIK_uc003fhi.2_Silent_p.E792E|TNIK_uc003fhj.2_Silent_p.E818E|TNIK_uc003fhk.2_Silent_p.E839E|TNIK_uc003fhl.2_Silent_p.E763E|TNIK_uc003fhm.2_Silent_p.E784E|TNIK_uc003fhn.2_Silent_p.E810E|TNIK_uc003fho.2_Silent_p.E755E|TNIK_uc003fhg.2_Silent_p.E25E NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 847 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGGTCTCGCTCTCTCCATCTT 0.498 NA 145 544 0 0 0 0 GHSR 2693 broad.mit.edu 37 3 172163255 172163255 + Missense_Mutation SNP G G C rs147508651 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:172163255G>C uc003fib.1 - 2 797 c.797C>G c.(796-798)GCT>GGT p.A266G NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 266 Helical; Name=6; (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CACCACTACAGCTAAAAGGAC 0.428 NA 15 24 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179103449 179103449 + Silent SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:179103449A>T uc003fjs.2 + 15 1881 c.1755A>T c.(1753-1755)GTA>GTT p.V585V MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.V613V|MFN1_uc010hxc.2_Silent_p.V327V NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 585 Helical; Name=1; (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTACATTAGTAACAGGATTGG 0.403 NA 33 120 0 0 0 0 LAMP3 27074 broad.mit.edu 37 3 182841990 182841990 + Nonsense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr3:182841990G>T uc003flh.3 - 6 1354 c.1130C>A c.(1129-1131)TCG>TAG p.S377* NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 377 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GTAGTCAGACGAGCACTCATC 0.383 NA 16 129 2.49e-13 3.14e-13 1 0 GAK 2580 broad.mit.edu 37 4 845576 845576 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:845576C>A uc003gbm.3 - 25 3669 c.3470G>T c.(3469-3471)GGG>GTG p.G1157V GAK_uc003gbn.3_Missense_Mutation_p.G1078V|GAK_uc003gbk.3_5'UTR|GAK_uc010ibi.2_Missense_Mutation_p.G382V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.G1010V NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1157 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CTCCCGCGCCCCGATCACACT 0.647 NA 28 23 8.58e-18 1.14e-17 1 0 TEC 7006 broad.mit.edu 37 4 48152891 48152891 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:48152891G>C uc003gxz.2 - 10 952 c.861C>G c.(859-861)ACC>ACG p.T287T NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 287 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 CTCCAAACTTGGTATAAAGGG 0.313 NA 27 126 0 0 0 0 FRYL 285527 broad.mit.edu 37 4 48512142 48512142 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:48512142C>G uc003gyh.1 - 59 8933 c.8328G>C c.(8326-8328)AAG>AAC p.K2776N FRYL_uc003gyf.1_Missense_Mutation_p.K172N|FRYL_uc003gyg.1_Missense_Mutation_p.K1472N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2776 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AAACACCAAACTTGAGTGTTT 0.408 NA 19 62 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52861265 52861265 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:52861265G>A uc003gzi.2 - 4 1936 c.1923C>T c.(1921-1923)TCC>TCT p.S641S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 641 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCCTTGCCCCGGACAGCCTTG 0.527 NA 3 44 0 0 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519769 69519769 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:69519769G>T uc011cal.1 - 5 1337 c.1299C>A c.(1297-1299)GTC>GTA p.V433V NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 433 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 GGTCATTAATGACTGACTTCA 0.383 NA 5 107 2.01e-06 2.28e-06 1 0 UGT2B11 10720 broad.mit.edu 37 4 70080094 70080094 + Missense_Mutation SNP A A C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:70080094A>C uc003heh.2 - 1 356 c.347T>G c.(346-348)CTG>CGG p.L116R uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 116 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TAATTCCCACAGGATTTCTTG 0.294 NA 17 52 0 0 0 0 SMR3A 26952 broad.mit.edu 37 4 71232543 71232543 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:71232543C>A uc003hfg.1 + 3 318 c.237C>A c.(235-237)TCC>TCA p.S79S SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 79 Pro-rich.|Poly-Pro. extracellular region 0 all_hematologic(202;0.196) TCCCACCATCCCCTCCTCCAC 0.552 NA 42 68 8.68e-10 1.05e-09 1 0 COL25A1 84570 broad.mit.edu 37 4 109738585 109738585 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:109738585C>T uc003hze.1 - 36 2461 c.1930G>A c.(1930-1932)GAT>AAT p.D644N COL25A1_uc003hzd.2_RNA NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 644 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGTAAGCCATCTGGCCCCTGT 0.388 NA 18 35 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114274404 114274404 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:114274404G>C uc003ibe.3 + 38 4730 c.4630G>C c.(4630-4632)GAG>CAG p.E1544Q ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E1559Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1511 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGCTGAGGAAGAGCCAGGAGA 0.433 NA 13 47 0 0 0 0 CCNA2 890 broad.mit.edu 37 4 122744744 122744744 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:122744744C>T uc003iec.3 - 1 345 c.40G>A c.(40-42)GCG>ACG p.A14T NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 14 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 GCCGAGCCCGCCTCGCGGGTC 0.687 NA 3 4 0 0 0 0 INPP4B 8821 broad.mit.edu 37 4 143045799 143045799 + Missense_Mutation SNP T T G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:143045799T>G uc003iix.3 - 20 2430 c.1835A>C c.(1834-1836)TAC>TCC p.Y612S INPP4B_uc003iiw.3_Missense_Mutation_p.Y612S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.Y427S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.Y483S NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 612 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GGGCAAGCTGTACGCAAGTTC 0.502 NA 15 34 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147561662 147561662 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:147561662A>G uc003ikv.2 + 2 1180 c.932A>G c.(931-933)AAT>AGT p.N311S NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 311 POU-specific. 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) TCCCACAATAATATGATCGCG 0.607 NA 6 21 0 0 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504404 151504404 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:151504404G>A uc003ilw.2 + 1 1328 c.223G>A c.(223-225)GAG>AAG p.E75K LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 75 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CACCGAATTTGAGGTGGTGCT 0.607 NA 9 19 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155253699 155253699 + Nonsense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:155253699C>A uc003inw.2 - 9 2164 c.2164G>T c.(2164-2166)GGA>TGA p.G722* DCHS2_uc003inx.2_Nonsense_Mutation_p.G1221* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 722 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCATTCTTTCCAGAGTCCATG 0.398 NA 11 57 1.09e-07 1.27e-07 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156717623 156717623 + Nonsense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:156717623T>A uc003ipc.2 + 8 1105 c.938T>A c.(937-939)TTA>TAA p.L313* GUCY1B3_uc011cio.1_Nonsense_Mutation_p.L335*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.L293*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.L241*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.L313*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.L241*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.L241* NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 313 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) ATGATCTACTTACCTGAAGCA 0.373 NA 11 25 0 0 0 0 DDX60 55601 broad.mit.edu 37 4 169138107 169138107 + Missense_Mutation SNP A A C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:169138107A>C uc003irp.2 - 38 5408 c.5116T>G c.(5116-5118)TGG>GGG p.W1706G DDX60_uc003iro.2_3'UTR NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1706 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AACTTTTCCCAAAAAGTTGTA 0.338 NA 16 34 0 0 0 0 DDX60L 91351 broad.mit.edu 37 4 169369891 169369891 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:169369891C>A uc003irq.3 - 9 1257 c.1036G>T c.(1036-1038)GTT>TTT p.V346F DDX60L_uc003irr.1_Missense_Mutation_p.V346F|DDX60L_uc003irs.1_Missense_Mutation_p.V73F NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 346 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CATCCAAAAACGTTTAAGTTG 0.303 NA 9 24 1.59e-06 1.8e-06 1 0 FAT1 2195 broad.mit.edu 37 4 187534263 187534263 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:187534263C>T uc003izf.2 - 13 9651 c.9463G>A c.(9463-9465)GGA>AGA p.G3155R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3155 Extracellular (Potential).|Cadherin 29. 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 CGGGAGATACCTGCGTCGGCA 0.567 NA HNSCC(5;0.00058) 4 11 0 0 0 0 TRIML1 339976 broad.mit.edu 37 4 189060960 189060960 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:189060960C>A uc003izm.1 + 1 363 c.248C>A c.(247-249)TCC>TAC p.S83Y NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 83 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CAGCTCCGGTCCCAGGTGCTG 0.637 NA 7 26 0.000157383 0.000169877 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5146383 5146383 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:5146383C>A uc003jdl.2 + 3 454 c.316C>A c.(316-318)CAC>AAC p.H106N ADAMTS16_uc003jdk.1_Missense_Mutation_p.H106N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H106N NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 106 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AGGCTCCAGGCACGACTTCCA 0.542 NA 54 28 4.74e-44 6.71e-44 1 0 ADCY2 108 broad.mit.edu 37 5 7698397 7698397 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:7698397G>A uc003jdz.1 + 7 1086 c.1019G>A c.(1018-1020)TGC>TAC p.C340Y ADCY2_uc011cmo.1_Missense_Mutation_p.C160Y NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 340 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTAGGAGACTGCTACTACTGT 0.393 NA 39 162 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11411728 11411728 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:11411728C>G uc003jfa.1 - 5 504 c.359G>C c.(358-360)GGT>GCT p.G120A CTNND2_uc010itt.2_Missense_Mutation_p.G29A|CTNND2_uc011cmy.1_Missense_Mutation_p.G29A|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 120 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CAGCTCGAGACCTGTTGTAAG 0.368 NA 51 29 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13900483 13900483 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:13900483C>T uc003jfd.2 - 15 2133 c.2091G>A c.(2089-2091)TTG>TTA p.L697L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 697 Stem (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) GAGCCTTCACCAATAATGAAG 0.408 NA Kartagener_syndrome 7 60 0 0 0 0 RASA1 5921 broad.mit.edu 37 5 86675667 86675667 + Missense_Mutation SNP C C T rs138785106 by1000genomes TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:86675667C>T uc003kiw.2 + 19 2721 c.2603C>T c.(2602-2604)CCG>CTG p.P868L RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P691L|RASA1_uc011ctv.1_Missense_Mutation_p.P701L|RASA1_uc011ctw.1_Missense_Mutation_p.P702L|RASA1_uc010jaw.2_Missense_Mutation_p.P690L NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 868 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ATACTTCCACCGTAAGTGGTG 0.303 NA 9 13 0 0 0 0 PAM 5066 broad.mit.edu 37 5 102343267 102343267 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:102343267G>T uc003knw.2 + 19 2494 c.2121G>T c.(2119-2121)CGG>CGT p.R707R PAM_uc003kns.2_Silent_p.R600R|PAM_uc003knt.2_Silent_p.R707R|PAM_uc003knu.2_Silent_p.R707R|PAM_uc003knv.2_Silent_p.R707R|PAM_uc011cuz.1_Silent_p.R610R|PAM_uc003knz.2_5'UTR NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 707 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 4.|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) AAAATGGTCGGATCCAGTGTT 0.433 NA 21 56 4.35e-09 5.19e-09 1 0 WDR36 134430 broad.mit.edu 37 5 110448824 110448824 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:110448824A>G uc003kpd.2 + 16 2053 c.1936A>G c.(1936-1938)ATT>GTT p.I646V WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 646 WD 8. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GGATTGCTCTATTAGGACTTG 0.289 NA 19 45 0 0 0 0 DMXL1 1657 broad.mit.edu 37 5 118485227 118485227 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:118485227G>C uc003ksd.2 + 18 3886 c.3705G>C c.(3703-3705)ATG>ATC p.M1235I DMXL1_uc010jcl.1_Missense_Mutation_p.M1235I NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1235 WD 10. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACTGTGAAATGCATGTGTATT 0.433 NA 21 55 0 0 0 0 ZNF608 57507 broad.mit.edu 37 5 123982854 123982855 + Missense_Mutation DNP CC CC AA TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:123982854_123982855CC>AA uc003ktq.1 - 4 3345_3346 c.3222_3223GG>TT c.(3220-3225)CTGGCT>CTTTCT p.A1075S ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.A1075S|ZNF608_uc003ktt.1_Missense_Mutation_p.A1075S|ZNF608_uc003ktp.1_5'Flank NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1075 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AGTGACTGAGCCAGGGCAGGAT 0.48 NA 10 31 0 0 0 0 MATR3 9782 broad.mit.edu 37 5 138654693 138654693 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:138654693C>T uc003ldu.2 + 11 1832 c.1405C>T c.(1405-1407)CAT>TAT p.H469Y MATR3_uc010jfb.2_Missense_Mutation_p.H469Y|MATR3_uc003ldt.2_Missense_Mutation_p.H131Y|MATR3_uc003ldw.2_Missense_Mutation_p.H469Y|MATR3_uc003ldx.2_Missense_Mutation_p.H469Y|MATR3_uc010jfc.2_Missense_Mutation_p.H469Y|MATR3_uc003ldy.2_Missense_Mutation_p.H146Y|MATR3_uc011czb.1_Missense_Mutation_p.H181Y|MATR3_uc003ldz.2_Missense_Mutation_p.H469Y|MATR3_uc003lea.2_Missense_Mutation_p.H469Y|MATR3_uc003leb.2_Missense_Mutation_p.H131Y|MATR3_uc003lec.2_Missense_Mutation_p.H146Y NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 469 RRM 1. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGTGAGAGTTCATTTATCCCA 0.348 NA 9 23 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712201 140712201 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:140712201C>A uc003lji.1 + 1 1950 c.1950C>A c.(1948-1950)GGC>GGA p.G650G PCDHGA1_uc011dan.1_Silent_p.G650G NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 650 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACCACGGCCAGCCCCCGC 0.706 NA 16 27 2e-07 2.32e-07 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140751806 140751806 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:140751806G>T uc003ljw.1 + 1 1845 c.1845G>T c.(1843-1845)GGG>GGT p.G615G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.G615G|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 615 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCCCGGGCTGTTCAGCC 0.687 NA 22 48 5.26e-13 6.65e-13 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755543 140755543 + Silent SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:140755543C>G uc003ljy.1 + 1 1893 c.1893C>G c.(1891-1893)GCC>GCG p.A631A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A631A NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 631 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCGCGCGCCCTGCTGGACA 0.701 NA 17 34 0 0 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764014 140764014 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:140764014G>C uc003lka.1 + 1 1548 c.1548G>C c.(1546-1548)GCG>GCC p.A516A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.A516A NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 516 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGTACGCGCTGCAATCCT 0.517 NA 9 21 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768373 140768373 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:140768373G>C uc003lkc.1 + 1 922 c.922G>C c.(922-924)GAA>CAA p.E308Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E308Q NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 308 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAGATTTTGAAGAAGTCAA 0.398 NA 7 20 0 0 0 0 POU4F3 5459 broad.mit.edu 37 5 145719943 145719943 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:145719943T>C uc003loa.2 + 2 1042 c.953T>C c.(952-954)GTG>GCG p.V318A NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 318 Homeobox. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAACGTGGTGAGAGTCTGG 0.547 NA 9 27 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161576255 161576255 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:161576255C>A uc003lyz.3 + 8 1422 c.1064C>A c.(1063-1065)ACC>AAC p.T355N GABRG2_uc010jjc.2_Missense_Mutation_p.T395N|GABRG2_uc003lyy.3_Missense_Mutation_p.T355N|GABRG2_uc011dej.1_Missense_Mutation_p.T260N NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 355 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GAGTATGGCACCTTGCATTAT 0.423 NA 12 43 1.5e-05 1.66e-05 1 0 WWC1 23286 broad.mit.edu 37 5 167891755 167891755 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:167891755C>T uc003lzu.2 + 21 3031 c.2938C>T c.(2938-2940)CGC>TGC p.R980C WWC1_uc003lzv.2_Missense_Mutation_p.R986C|WWC1_uc011den.1_Missense_Mutation_p.R986C|WWC1_uc003lzw.2_Missense_Mutation_p.R779C|WWC1_uc010jjf.1_Missense_Mutation_p.R252C NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 980 Interaction with PRKCZ.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CAAGTCGCTGCGCTCCGAGCG 0.597 NA 7 24 0 0 0 0 SLIT3 6586 broad.mit.edu 37 5 168671713 168671713 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:168671713G>T uc003mab.2 - 3 757 c.337C>A c.(337-339)CGA>AGA p.R113R SLIT3_uc010jjg.2_Silent_p.R113R|SLIT3_uc010jji.2_Silent_p.R113R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 113 LRR 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTACAGTCGCTCTAGCTGC 0.393 NA 10 22 9.7e-10 1.17e-09 1 0 NPM1 4869 broad.mit.edu 37 5 170818333 170818333 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:170818333G>A uc011dex.1 + 4 298 c.163G>A c.(163-165)GAT>AAT p.D55N NPM1_uc003mbh.2_Missense_Mutation_p.D55N|NPM1_uc003mbi.2_Missense_Mutation_p.D55N|NPM1_uc003mbj.2_Missense_Mutation_p.D55N NM_002520 NP_002511 P06748 NPM_HUMAN nucleophosmin 1 isoform 1 55 Necessary for interaction with APEX1.|Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) haematopoietic_and_lymphoid_tissue(3109)|skin(1) 3110 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGTGCAAAGGATGAGTTGCA 0.398 NA T|F ALK|RARA|MLF1 NHL|APL|AML 21 29 0 0 0 0 UIMC1 51720 broad.mit.edu 37 5 176396024 176396024 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:176396024G>A uc011dfp.1 - 6 899 c.732C>T c.(730-732)CTC>CTT p.L244L UIMC1_uc003mfc.1_Silent_p.L121L|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 244 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACAGCTTTGAGAAAAGCAG 0.517 NA 14 68 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180053207 180053207 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:180053207C>T uc003mma.3 - 9 1241 c.1162G>A c.(1162-1164)GAG>AAG p.E388K FLT4_uc003mlz.3_Missense_Mutation_p.E388K|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.E388K NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 388 Ig-like C2-type 4.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCTGTCACCTCCTTGAGCACC 0.627 NA Congenital_Hereditary_Lymphedema 14 46 0 0 0 0 SLC17A3 10786 broad.mit.edu 37 6 25851036 25851036 + Nonsense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:25851036C>T uc003nfi.3 - 6 658 c.548G>A c.(547-549)TGG>TAG p.W183* SLC17A3_uc003nfk.3_Nonsense_Mutation_p.W261*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.W261*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.W183* NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 183 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 GGTGCTTATCCATGGATAGGA 0.413 NA 13 37 0 0 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26108148 26108148 + Silent SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:26108148T>A uc003ngj.2 - 1 217 c.174A>T c.(172-174)CGA>CGT p.R58R NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 58 H15. cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 ACATACCTACTCGTTCCTGTG 0.532 NA 24 56 0 0 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101036 27101036 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:27101036G>A uc003niw.2 + 1 220 c.186G>A c.(184-186)GAG>GAA p.E62E HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 62 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 TGACCGCCGAGATCCTGGAAC 0.667 NA 24 44 0 0 0 0 COL11A2 1302 broad.mit.edu 37 6 33145004 33145004 + Splice_Site SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:33145004T>A uc003ocx.1 - 24 2200 c.1972_splice c.e24-1 p.G658_splice COL11A2_uc010jul.1_Splice_Site_p.R37_splice|COL11A2_uc003ocy.1_Splice_Site_p.G572_splice|COL11A2_uc003ocz.1_Splice_Site_p.G551_splice NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GGGAAGACCCTACATACAGGG 0.547 NA 26 38 0 0 0 0 DAAM2 23500 broad.mit.edu 37 6 39843198 39843198 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:39843198G>T uc003oow.2 + 11 1411 c.1255G>T c.(1255-1257)GAC>TAC p.D419Y DAAM2_uc010jxc.2_Missense_Mutation_p.D419Y|DAAM2_uc003oox.2_Missense_Mutation_p.D419Y NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 419 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TGTGGACCCTGACCTGGCTCC 0.572 NA 24 40 5.35e-11 6.58e-11 1 0 C6orf142 90523 broad.mit.edu 37 6 54025221 54025221 + Silent SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:54025221A>T uc003pcg.3 + 5 854 c.741A>T c.(739-741)CCA>CCT p.P247P C6orf142_uc003pcf.2_Silent_p.P771P|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.P782P NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 247 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CATTAGAACCACCAGTGGAGG 0.398 NA 6 22 0 0 0 0 GFRAL 389400 broad.mit.edu 37 6 55223861 55223861 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:55223861T>A uc003pcm.1 + 6 963 c.877T>A c.(877-879)TGT>AGT p.C293S NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 293 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAATGTACCTGTAGGACCAT 0.393 NA 31 63 0 0 0 0 COL21A1 81578 broad.mit.edu 37 6 55939064 55939064 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:55939064C>A uc003pcs.2 - 20 2163 c.1931G>T c.(1930-1932)GGC>GTC p.G644V COL21A1_uc010jzz.2_Missense_Mutation_p.G29V|COL21A1_uc011dxg.1_Missense_Mutation_p.G29V|COL21A1_uc011dxh.1_Missense_Mutation_p.G29V|COL21A1_uc003pcr.2_Missense_Mutation_p.A2S NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 644 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCCTGGTGAGCCATTGCTTCC 0.328 NA 37 60 5.72e-15 7.36e-15 1 0 DST 667 broad.mit.edu 37 6 56357099 56357099 + Nonsense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:56357099G>A uc003pdf.2 - 79 14354 c.14326C>T c.(14326-14328)CGA>TGA p.R4776* DST_uc003pcz.3_Nonsense_Mutation_p.R4598*|DST_uc011dxj.1_Nonsense_Mutation_p.R4627*|DST_uc011dxk.1_Nonsense_Mutation_p.R4638*|DST_uc003pcy.3_Nonsense_Mutation_p.R4272*|DST_uc003pda.3_5'UTR NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6684 Spectrin 17. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTTCCCATCGACTTTGTACA 0.383 NA 18 72 0 0 0 0 BAI3 577 broad.mit.edu 37 6 69703783 69703783 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:69703783G>T uc003pev.3 + 11 2306 c.1858G>T c.(1858-1860)GTG>TTG p.V620L BAI3_uc010kak.2_Missense_Mutation_p.V620L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 620 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TCTGATGTCTGTGGAGATCCT 0.463 NA 53 70 1.86e-20 2.52e-20 1 0 COL12A1 1303 broad.mit.edu 37 6 75806969 75806969 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:75806969C>T uc003phs.2 - 59 8743 c.8577G>A c.(8575-8577)CCG>CCA p.P2859P COL12A1_uc003pht.2_Silent_p.P1695P NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2859 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TAGTTCTTACCGGCGGCCCTG 0.483 NA 17 46 0 0 0 0 RARS2 57038 broad.mit.edu 37 6 88229969 88229969 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:88229969A>T uc003pme.2 - 13 1101 c.1041T>A c.(1039-1041)GAT>GAA p.D347E RARS2_uc003pmb.2_Missense_Mutation_p.D172E|RARS2_uc003pmc.2_Missense_Mutation_p.D172E|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 347 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) TTTGTCCTTTATCTGTCTTGG 0.313 NA 48 86 0 0 0 0 SFRS18 25957 broad.mit.edu 37 6 99850546 99850546 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:99850546C>T uc003ppo.3 - 11 1425 c.1197G>A c.(1195-1197)GAG>GAA p.E399E SFRS18_uc003ppl.2_5'Flank|SFRS18_uc003ppp.3_Silent_p.E399E|SFRS18_uc011eag.1_Silent_p.E399E NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 399 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TGTCACTCCTCTCATCTTCAC 0.398 NA 59 130 0 0 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746270 110746270 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:110746270C>T uc003puf.2 - 8 1607 c.1540G>A c.(1540-1542)GCC>ACC p.A514T SLC22A16_uc003pue.2_Missense_Mutation_p.A495T NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 514 Helical; (Potential). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTCAGGAGGGCCATAGTCCCA 0.423 NA 30 49 0 0 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671163 112671163 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:112671163C>A uc003pvx.1 + 3 565 c.253C>A c.(253-255)CAC>AAC p.H85N NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 85 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GCAAAGTCTGCACGTGAGGGA 0.537 NA 13 19 2.32e-05 2.56e-05 1 0 HS3ST5 222537 broad.mit.edu 37 6 114378425 114378425 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:114378425G>C uc003pwg.3 - 2 1069 c.1037C>G c.(1036-1038)CCC>CGC p.P346R uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P346R NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 346 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) ATTATTTTAGGGCCAGTTCAA 0.398 NA 17 44 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118887220 118887220 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:118887220G>C uc003pxz.1 - 3 1080 c.492C>G c.(490-492)GCC>GCG p.A164A C6orf204_uc003pya.1_Silent_p.A167A|C6orf204_uc003pyb.2_Silent_p.A164A|C6orf204_uc011ebj.1_Silent_p.A62A|C6orf204_uc003pyc.2_Silent_p.A167A|C6orf204_uc011ebl.1_Silent_p.A62A NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 164 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) AGTTATCCGGGGCAGTGAGTT 0.498 NA 29 50 0 0 0 0 TRDN 10345 broad.mit.edu 37 6 123759228 123759228 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:123759228G>C uc003pzj.1 - 12 1053 c.1031C>G c.(1030-1032)GCC>GGC p.A344G TRDN_uc003pzk.1_Missense_Mutation_p.A345G|TRDN_uc003pzl.1_Missense_Mutation_p.A345G|uc003pzm.1_5'Flank NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 344 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CACATCAATGGCAGTTTCCTT 0.348 NA 4 11 0 0 0 0 TCF21 6943 broad.mit.edu 37 6 134210906 134210906 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:134210906C>T uc003qei.3 + 1 647 c.371C>T c.(370-372)GCG>GTG p.A124V uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.A124V NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 124 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CTCAGGCTGGCGTCCAGCTAC 0.617 NA 17 63 0 0 0 0 AHI1 54806 broad.mit.edu 37 6 135679271 135679271 + Missense_Mutation SNP G G T rs73559947 by1000genomes TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:135679271G>T uc003qgi.2 - 24 3548 c.3164C>A c.(3163-3165)ACG>AAG p.T1055K AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.T505K|AHI1_uc003qgh.2_Missense_Mutation_p.T1055K|AHI1_uc003qgj.2_Missense_Mutation_p.T1055K|AHI1_uc003qgk.3_RNA NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 1055 SH3. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTGTCTTACCGTTGGTGCTGT 0.358 NA 48 203 8e-19 1.08e-18 1 0 REPS1 85021 broad.mit.edu 37 6 139229952 139229952 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:139229952C>T uc003qii.2 - 18 2648 c.2069G>A c.(2068-2070)AGC>AAC p.S690N REPS1_uc003qig.3_Missense_Mutation_p.S663N|REPS1_uc011edr.1_Missense_Mutation_p.S689N|REPS1_uc003qij.2_Missense_Mutation_p.S599N|REPS1_uc003qik.2_Missense_Mutation_p.S296N NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 690 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TGTGCCTTTGCTCTTTAAGAC 0.363 NA 15 22 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146625871 146625871 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:146625871C>A uc010khw.1 + 4 1545 c.1075C>A c.(1075-1077)CTG>ATG p.L359M GRM1_uc010khv.1_Missense_Mutation_p.L359M|GRM1_uc003qll.2_Missense_Mutation_p.L359M|GRM1_uc011edz.1_Missense_Mutation_p.L359M|GRM1_uc011eea.1_Missense_Mutation_p.L359M NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 359 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GAAACTGAGGCTGGACACTAA 0.493 NA 17 33 1.68e-08 1.99e-08 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151153189 151153189 + Missense_Mutation SNP G G T rs113595784 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:151153189G>T uc003qny.1 + 16 3254 c.2942G>T c.(2941-2943)CGG>CTG p.R981L PLEKHG1_uc011eel.1_Missense_Mutation_p.R1021L|PLEKHG1_uc011eem.1_Missense_Mutation_p.R1040L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R981L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 981 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ATGATGGCTCGGCAGTACAGT 0.507 NA 55 105 4.79e-31 6.72e-31 1 0 SYNE1 23345 broad.mit.edu 37 6 152786476 152786476 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:152786476G>T uc010kiw.2 - 18 2451 c.1849C>A c.(1849-1851)CGC>AGC p.R617S SYNE1_uc003qot.3_Missense_Mutation_p.R624S|SYNE1_uc003qou.3_Missense_Mutation_p.R617S|SYNE1_uc010kjb.1_Missense_Mutation_p.R600S|SYNE1_uc003qpa.1_Missense_Mutation_p.R617S|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R133S|SYNE1_uc003qoz.2_Missense_Mutation_p.R49S|SYNE1_uc003qoy.2_Missense_Mutation_p.R184S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 617 Cytoplasmic (Potential).|HAT 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGCCATAGCGATCCCAGTTA 0.448 NA HNSCC(10;0.0054) 29 55 1.08e-15 1.4e-15 1 0 ARID1B 57492 broad.mit.edu 37 6 157488191 157488191 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:157488191G>A uc003qqn.2 + 9 2836 c.2684G>A c.(2683-2685)GGC>GAC p.G895D ARID1B_uc003qqo.2_Missense_Mutation_p.G908D|ARID1B_uc003qqp.2_Missense_Mutation_p.G895D|ARID1B_uc010kjl.2_Missense_Mutation_p.G93D NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 953 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGTTTCCCCGGCATGAACCAG 0.537 NA 4 239 0 0 0 0 T 6862 broad.mit.edu 37 6 166578115 166578115 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:166578115G>A uc003quu.1 - 6 1201 c.708C>T c.(706-708)AGC>AGT p.S236S T_uc003qut.1_Silent_p.S236S|T_uc003quv.1_Silent_p.S236S NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 236 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CAGGTTGCTGGCTGTCTCCGG 0.418 NA Chordoma_Familial_Clustering_of 29 58 0 0 0 0 RPS6KA2 6196 broad.mit.edu 37 6 167271702 167271702 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:167271702C>A uc003qvd.1 - 2 222 c.109G>T c.(109-111)GAC>TAC p.D37Y RPS6KA2_uc003qvc.1_Missense_Mutation_p.D37Y NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide Error:Variant_position_missing_in_Q15349_after_alignment axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCTGCAGTGTCTTCTGTGGTG 0.443 NA 10 41 3.62e-10 4.41e-10 1 0 THBS2 7058 broad.mit.edu 37 6 169629677 169629677 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr6:169629677G>T uc003qwt.2 - 15 2497 c.2249C>A c.(2248-2250)ACC>AAC p.T750N NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 750 TSP type-3 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTTCTCATCGGTCACACCGTC 0.557 NA 11 100 6.4e-05 7e-05 1 0 AMZ1 155185 broad.mit.edu 37 7 2752343 2752343 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:2752343T>C uc003smr.1 + 7 1689 c.1328T>C c.(1327-1329)TTC>TCC p.F443S AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Missense_Mutation_p.F192S NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 443 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) TGGGAGATGTTCACGGGCCAG 0.687 NA 13 34 0 0 0 0 MIOS 54468 broad.mit.edu 37 7 7636045 7636045 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:7636045G>A uc003srf.2 + 11 2662 c.2354G>A c.(2353-2355)TGT>TAT p.C785Y MIOS_uc003srg.2_Missense_Mutation_p.C320Y|MIOS_uc010ktq.2_Missense_Mutation_p.C180Y NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 785 0 CTTCCTCGATGTGCGCTTTGT 0.403 NA 60 96 0 0 0 0 ITGB8 3696 broad.mit.edu 37 7 20371492 20371492 + Silent SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:20371492A>T uc003suu.2 + 1 768 c.63A>T c.(61-63)CGA>CGT p.R21R ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Silent_p.R21R NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 21 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 ACGACCGGCGAGGTCCCGCCT 0.433 NA 23 44 0 0 0 0 TRIL 9865 broad.mit.edu 37 7 28995715 28995715 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:28995715C>G uc003szt.2 - 3 2315 c.1948G>C c.(1948-1950)GAG>CAG p.E650Q NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 650 Extracellular (Potential). inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 CCGCGCAGCTCGCGCAGCGTG 0.711 NA 2 7 0 0 0 0 NOD1 10392 broad.mit.edu 37 7 30472736 30472736 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:30472736A>G uc003tav.2 - 12 3204 c.2681T>C c.(2680-2682)GTC>GCC p.V894A NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 894 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CGTCTGGTTGACTTTCAACAT 0.323 NA 9 46 0 0 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142969 31142969 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:31142969G>T uc003tca.1 + 14 1388 c.1165G>T c.(1165-1167)GGC>TGC p.G389C ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.G368C|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.G417C|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.G417C|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.G416C|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.G147C NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 389 Helical; Name=7; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GCTGGGGCTGGGCTCCTTCCA 0.547 NA 13 67 4.38e-07 5.04e-07 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378227 31378227 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:31378227G>A uc003tch.2 - 2 1009 c.656C>T c.(655-657)CCC>CTC p.P219L NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 219 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 ATGCCCTGGGGGAGTGGTGAG 0.527 NA 26 54 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48443311 48443311 + Nonsense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:48443311C>T uc003toq.2 + 39 11930 c.11905C>T c.(11905-11907)CAG>TAG p.Q3969* ABCA13_uc010kys.1_Nonsense_Mutation_p.Q1043*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Q795*|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3969 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AACTCAGCATCAGCACAAACA 0.478 NA 24 18 0 0 0 0 ZNF735 730291 broad.mit.edu 37 7 63680469 63680469 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:63680469A>G uc011kdn.1 + 4 1040 c.1040A>G c.(1039-1041)CAT>CGT p.H347R NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 347 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGATAATTCATACTGGAGAG 0.408 NA 18 31 0 0 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010505 73010505 + Missense_Mutation SNP A A C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:73010505A>C uc003tyn.1 - 13 2084 c.2036T>G c.(2035-2037)CTC>CGC p.L679R MLXIPL_uc003tyj.1_Missense_Mutation_p.L58R|MLXIPL_uc003tyk.1_Missense_Mutation_p.L677R|MLXIPL_uc003tyl.1_Missense_Mutation_p.L677R|MLXIPL_uc003tym.1_Missense_Mutation_p.L679R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.L585R NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 679 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGGGCACTGAGTGTGCTCAC 0.627 NA 12 55 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81579768 81579768 + Silent SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:81579768G>T uc003uhr.1 - 39 3472 c.3216C>A c.(3214-3216)ATC>ATA p.I1072I uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Silent_p.I284I NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 1084 Helical; (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGATTCCAATGATATACCACA 0.388 NA 33 78 6.04e-23 8.26e-23 1 0 PCLO 27445 broad.mit.edu 37 7 82785474 82785474 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:82785474G>C uc003uhx.2 - 2 772 c.483C>G c.(481-483)AAC>AAG p.N161K PCLO_uc003uhv.2_Missense_Mutation_p.N161K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 161 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CACTTAAAGCGTTAACCTCTG 0.403 NA 32 73 0 0 0 0 SAMD9 54809 broad.mit.edu 37 7 92732854 92732854 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:92732854C>T uc003umf.2 - 3 2813 c.2557G>A c.(2557-2559)GTA>ATA p.V853I SAMD9_uc003umg.2_Missense_Mutation_p.V853I NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 853 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGCTGTATTACGGCAATACTG 0.333 NA 24 93 0 0 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95664996 95664996 + Silent SNP G G A rs142103982 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:95664996G>A uc003uoc.3 + 13 1624 c.1347G>A c.(1345-1347)ACG>ACA p.T449T DYNC1I1_uc003uod.3_Silent_p.T432T|DYNC1I1_uc003uob.2_Silent_p.T412T|DYNC1I1_uc003uoe.3_Silent_p.T429T|DYNC1I1_uc010lfl.2_Silent_p.T438T NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 449 WD 4. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CTTTCCCAACGGGAGACGTCA 0.473 NA 50 138 0 0 0 0 WNT2 7472 broad.mit.edu 37 7 116918348 116918348 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:116918348G>T uc003viz.2 - 5 1244 c.944C>A c.(943-945)ACC>AAC p.T315N WNT2_uc003vja.2_Missense_Mutation_p.T219N NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 315 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GACATGGGAGGTGTCGTAGCC 0.602 NA 32 24 2.61e-14 3.36e-14 1 0 GPR37 2861 broad.mit.edu 37 7 124387352 124387352 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:124387352T>A uc003vli.2 - 2 1720 c.1069A>T c.(1069-1071)ATA>TTA p.I357L NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 357 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 AAGCGGTCTATGCACAGAGCA 0.493 NA 13 66 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126410105 126410105 + Missense_Mutation SNP C C G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:126410105C>G uc003vlr.2 - 6 1482 c.1171G>C c.(1171-1173)GCT>CCT p.A391P GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A391P|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.A112P NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 391 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GAATCCCGAGCAATTCGCTCC 0.388 NA HNSCC(24;0.065) 12 18 0 0 0 0 OR2A12 346525 broad.mit.edu 37 7 143792691 143792691 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:143792691G>T uc011kty.1 + 1 491 c.491G>T c.(490-492)AGG>ATG p.R164M NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) CTTATTCTGAGGCTGCCTTTT 0.458 NA 55 74 1.46e-32 2.06e-32 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146536965 146536965 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:146536965G>T uc003weu.1 + 3 887 c.371G>T c.(370-372)TGG>TTG p.W124L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 124 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGGAGAAACTGGAAACCCTAT 0.443 NA HNSCC(39;0.1) 19 34 9.96e-16 1.29e-15 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147183129 147183129 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:147183129C>A uc003weu.1 + 11 2289 c.1773C>A c.(1771-1773)CAC>CAA p.H591Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 591 EGF-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCACCTGCCACAACTGTGAGT 0.458 NA HNSCC(39;0.1) 19 38 3.52e-12 4.39e-12 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147869371 147869371 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:147869371C>A uc003weu.1 + 18 3327 c.2811C>A c.(2809-2811)ATC>ATA p.I937I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 937 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGGCTGCATCCGCTCCTTGA 0.537 NA HNSCC(39;0.1) 23 49 1.64e-13 2.09e-13 1 0 SSPO 23145 broad.mit.edu 37 7 149474083 149474083 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:149474083G>T uc010lpk.2 + 3 293 c.293G>T c.(292-294)TGG>TTG p.W98L SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 98 EMI. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCCAGGCTGGGGGGGCGCC 0.622 NA 12 54 1.05e-09 1.27e-09 1 0 CRYGN 155051 broad.mit.edu 37 7 151133382 151133382 + Silent SNP G G A rs113942095 by1000genomes TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:151133382G>A uc003wke.2 - 3 396 c.300C>T c.(298-300)TTC>TTT p.F100F CRYGN_uc003wkf.2_Intron|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_RNA NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN gammaN-crystallin 100 Beta/gamma crystallin 'Greek key' 3. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAACCCTCGAAGATTTCTA 0.537 NA 11 24 0 0 0 0 FAM160B2 64760 broad.mit.edu 37 8 21960044 21960044 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:21960044C>T uc011kyx.1 + 16 2049 c.1998C>T c.(1996-1998)ATC>ATT p.I666I FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 666 0 TGTAGGTGATCGGGGACTTGA 0.617 NA 2 0 0 0 0 0 TRIM35 23087 broad.mit.edu 37 8 27145527 27145527 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:27145527G>A uc003xfl.1 - 6 1104 c.1022C>T c.(1021-1023)TCG>TTG p.S341L TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 341 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) GCAGGGCGCCGAGGAGAAGCG 0.682 NA 8 47 0 0 0 0 CCDC25 55246 broad.mit.edu 37 8 27606107 27606107 + Missense_Mutation SNP T T C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:27606107T>C uc003xgc.2 - 6 366 c.253A>G c.(253-255)ATG>GTG p.M85V CCDC25_uc003xgd.2_Missense_Mutation_p.M17V|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA NM_018246 NP_060716 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 85 0 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) ACGTTGTTCATCTTGCAGCCT 0.488 NA 18 111 0 0 0 0 FUT10 84750 broad.mit.edu 37 8 33310959 33310959 + Missense_Mutation SNP T T C rs139365562 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:33310959T>C uc003xje.2 - 3 507 c.151A>G c.(151-153)AAA>GAA p.K51E FUT10_uc003xjc.2_Missense_Mutation_p.K58E|FUT10_uc003xjd.2_Missense_Mutation_p.K23E|FUT10_uc011lbi.1_Missense_Mutation_p.K101E|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Missense_Mutation_p.K23E|FUT10_uc003xjh.2_Missense_Mutation_p.K51E|FUT10_uc003xji.1_Missense_Mutation_p.K51E NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 51 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TCCTCCATTTTTGTATGTCCA 0.378 NA 13 75 0 0 0 0 CHRNA6 8973 broad.mit.edu 37 8 42620299 42620299 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:42620299G>C uc003xpj.2 - 2 174 c.128C>G c.(127-129)TCT>TGT p.S43C CHRNA6_uc011lcw.1_Missense_Mutation_p.S43C NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 43 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTTGTAATGAGAAAACAGTTT 0.557 NA 22 106 0 0 0 0 MOS 4342 broad.mit.edu 37 8 57025647 57025647 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:57025647G>C uc011leb.1 - 1 895 c.895C>G c.(895-897)CTC>GTC p.L299V NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 299 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCAGCGGAGAGGGACGGGCGC 0.687 NA 13 26 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766927 77766927 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:77766927C>T uc003yav.2 + 10 8022 c.7635C>T c.(7633-7635)TGC>TGT p.C2545C ZFHX4_uc003yau.1_Silent_p.C2590C|ZFHX4_uc003yaw.1_Silent_p.C2545C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2545 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) ATAATAATTGCAGTGAAAAAG 0.473 NA HNSCC(33;0.089) 10 24 0 0 0 0 LRRCC1 85444 broad.mit.edu 37 8 86047139 86047139 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:86047139A>T uc003ycw.2 + 13 2180 c.2026A>T c.(2026-2028)ATT>TTT p.I676F LRRCC1_uc010maa.1_Missense_Mutation_p.I377F|LRRCC1_uc003ycx.2_Missense_Mutation_p.I583F|LRRCC1_uc003ycy.2_Missense_Mutation_p.I656F NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 676 cell division|mitosis centriole|nucleus 0 ACATGCTCTTATTTGGGCTCA 0.313 NA 17 53 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103373366 103373366 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:103373366G>A uc003ykr.1 - 3 209 c.176C>T c.(175-177)GCC>GTC p.A59V UBR5_uc003yks.1_Missense_Mutation_p.A59V NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 59 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AAGAAGAAAGGCAGCATGATT 0.333 NA 9 44 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110488740 110488740 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:110488740G>A uc003yne.2 + 52 8865 c.8761G>A c.(8761-8763)GAA>AAA p.E2921K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2921 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTATAGGAAGAAGACTATGT 0.259 NA HNSCC(38;0.096) 3 4 0 0 0 0 RAD21 5885 broad.mit.edu 37 8 117866561 117866561 + Missense_Mutation SNP T T A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:117866561T>A uc003yod.2 - 9 1372 c.1084A>T c.(1084-1086)ATG>TTG p.M362L NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 362 Interaction with WAPAL and PDS5B.|Interaction with STAG1. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCTTTCCACATCATCAATTTC 0.383 NA 19 73 0 0 0 0 ZNF696 79943 broad.mit.edu 37 8 144378762 144378762 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:144378762C>A uc003yxy.3 + 3 1326 c.917C>A c.(916-918)TCC>TAC p.S306Y NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 306 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AGCCGCAGCTCCTTCCTCCGC 0.731 NA 3 10 0.004672 0.0048978 1 0 CDKN2A 1029 broad.mit.edu 37 9 21970900 21970900 + Splice_Site SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:21970900C>A uc003zpk.2 - 2 669 c.457_splice c.e2+1 p.D153_splice MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(12) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCAGTCCTCACCTGAGGGACC 0.597 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 13 5 3.27e-08 3.85e-08 1 0 LINGO2 158038 broad.mit.edu 37 9 27949285 27949285 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:27949285A>G uc003zqu.1 - 2 1579 c.1385T>C c.(1384-1386)GTG>GCG p.V462A LINGO2_uc010mjf.1_Missense_Mutation_p.V462A|LINGO2_uc003zqv.1_Missense_Mutation_p.V462A NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 462 Ig-like C2-type.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ATCACCCAACACGGTGGCTCT 0.537 NA 23 17 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32634220 32634220 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:32634220G>T uc003zrg.1 - 1 1448 c.1358C>A c.(1357-1359)GCA>GAA p.A453E uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 453 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAGCCAGCCTGCCAGGCTTGC 0.468 NA 71 50 1.38e-34 1.95e-34 1 0 ENHO 375704 broad.mit.edu 37 9 34521615 34521615 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:34521615A>G uc003zun.1 - 2 503 c.79T>C c.(79-81)TGG>CGG p.W27R ENHO_uc003zuo.2_RNA NM_198573 NP_940975 Q6UWT2 ENHO_HUMAN adropin precursor 27 extracellular region 0 AGGATGACCCAGAGCAGCAGC 0.632 NA 9 49 0 0 0 0 C9orf152 401546 broad.mit.edu 37 9 112963437 112963437 + Missense_Mutation SNP C C T rs138966973 byFrequency TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:112963437C>T uc011lwk.1 - 2 1065 c.511G>A c.(511-513)GGA>AGA p.G171R NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN hypothetical protein LOC401546 171 0 TCTGGGATTCCGGTTCCTTGC 0.493 NA 26 114 0 0 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673995 125673995 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:125673995G>A uc004bnh.2 - 2 446 c.357C>T c.(355-357)TGC>TGT p.C119C NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGCTTCTGTGCACTTTTCCA 0.388 NA 17 73 0 0 0 0 TOR1B 27348 broad.mit.edu 37 9 132565578 132565578 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:132565578C>T uc004byk.1 + 1 147 c.87C>T c.(85-87)ACC>ACT p.T29T NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 29 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) AGCCCATCACCGTGGGCCTAG 0.726 NA 11 1 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135205410 135205410 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:135205410G>A uc004cbk.2 - 10 1758 c.1575C>T c.(1573-1575)TCC>TCT p.S525S SETX_uc004cbj.2_Silent_p.S144S|SETX_uc010mzt.2_Silent_p.S144S NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 525 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TAGATGGCATGGAATGCAATG 0.438 NA 102 35 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 136030665 136030665 + Missense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr9:136030665C>T uc011mcw.1 - 6 577 c.296G>A c.(295-297)GGC>GAC p.G99D GBGT1_uc004ccx.2_Missense_Mutation_p.A40T|GBGT1_uc010nab.2_Missense_Mutation_p.G99D|GBGT1_uc011mcx.1_Missense_Mutation_p.A70T|GBGT1_uc004ccw.2_Missense_Mutation_p.A87T|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.A87T NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:Variant_position_missing_in_Q12967_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACGATGGGCGCCAACCAGGGT 0.557 NA T CIITA PMBL|Hodgkin Lymphona| 19 14 0 0 0 0 CXorf22 170063 broad.mit.edu 37 X 35969932 35969932 + Nonsense_Mutation SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:35969932C>T uc004ddj.2 + 6 957 c.898C>T c.(898-900)CAA>TAA p.Q300* CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 300 large_intestine(1)|lung(1)|ovary(1) 3 TACAGATATTCAACAAAGAAC 0.279 NA 5 8 0 0 0 0 ITIH5L 347365 broad.mit.edu 37 X 54784495 54784495 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:54784495G>C uc004dtj.2 - 8 2042 c.2012C>G c.(2011-2013)TCC>TGC p.S671C NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 671 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 AGTAGTTGAGGATAAGTAGAA 0.522 NA 17 64 0 0 0 0 ITIH5L 347365 broad.mit.edu 37 X 54784525 54784525 + Nonsense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:54784525G>C uc004dtj.2 - 8 2012 c.1982C>G c.(1981-1983)TCA>TGA p.S661* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 661 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CACAGGCCTTGATTTGGGGGA 0.542 NA 12 47 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76938209 76938209 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:76938209A>T uc004ecp.3 - 9 2771 c.2539T>A c.(2539-2541)TTT>ATT p.F847I ATRX_uc004ecq.3_Missense_Mutation_p.F809I|ATRX_uc004eco.3_Missense_Mutation_p.F632I|ATRX_uc004ecr.2_Missense_Mutation_p.F779I|ATRX_uc010nlx.1_Missense_Mutation_p.F818I|ATRX_uc010nly.1_Missense_Mutation_p.F792I NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 847 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GAAGAGTCAAAATCTTTTGTA 0.249 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 101 175 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131853 91131853 + Missense_Mutation SNP A A T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:91131853A>T uc004efk.1 + 2 1459 c.614A>T c.(613-615)AAG>ATG p.K205M PCDH11X_uc004efl.1_Missense_Mutation_p.K205M|PCDH11X_uc004efo.1_Missense_Mutation_p.K205M|PCDH11X_uc010nmv.1_Missense_Mutation_p.K205M|PCDH11X_uc004efm.1_Missense_Mutation_p.K205M|PCDH11X_uc004efn.1_Missense_Mutation_p.K205M|PCDH11X_uc004efh.1_Missense_Mutation_p.K205M|PCDH11X_uc004efj.1_Missense_Mutation_p.K205M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 205 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATTGTTCAAAAGGAGTTAGAT 0.398 NA 21 53 0 0 0 0 VSIG1 340547 broad.mit.edu 37 X 107310364 107310364 + Missense_Mutation SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:107310364G>A uc004eno.2 + 3 573 c.412G>A c.(412-414)GTG>ATG p.V138M VSIG1_uc011msk.1_Missense_Mutation_p.V174M NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 138 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CAGTGTGTTAGGTATGAGCAC 0.438 NA 73 16 0 0 0 0 CAPN6 827 broad.mit.edu 37 X 110495672 110495672 + Missense_Mutation SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:110495672C>A uc004epc.1 - 5 730 c.562G>T c.(562-564)GAC>TAC p.D188Y CAPN6_uc011msu.1_Intron NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 188 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 CCCGTGAAGTCCACAATAATA 0.433 NA 35 14 6.71e-13 8.43e-13 1 0 SPRY3 10251 broad.mit.edu 37 X 155003585 155003585 + Silent SNP C C T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:155003585C>T uc004fnq.1 + 2 506 c.52C>T c.(52-54)CTG>TTG p.L18L SPRY3_uc010nvl.1_Silent_p.L18L NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 18 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TATTGAACAGCTGCGCTCTAC 0.488 NA 74 39 0 0 0 0 AGRN 375790 broad.mit.edu 37 1 957724 957724 + Frame_Shift_Del DEL C C - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr1:957724delC uc001ack.1 + 2 395 c.345delC c.(343-345)TTCfs p.F115fs NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 115 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAGGATCTTCTTTGTGAACC 0.607 NA 107 52 --- --- --- --- NA NA NA NA C10orf12 26148 broad.mit.edu 37 10 98741349 98741372 + In_Frame_Del DEL CGCCAGGATTTAGAGGCAAATGAA CGCCAGGATTTAGAGGCAAATGAA - rs141108014 TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr10:98741349_98741372delCGCCAGGATTTAGAGGCAAATGAA uc001kmv.2 + 1 309_332 c.202_225delCGCCAGGATTTAGAGGCAAATGAA c.(202-225)CGCCAGGATTTAGAGGCAAATGAAdel p.RQDLEANE68del C10orf12_uc009xvg.1_In_Frame_Del_p.RQDLEANE378del NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 68_75 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AACACCTTTGCGCCAGGATTTAGAGGCAAATGAACAAGATGCAA 0.429 NA 10 72 --- --- --- --- NA NA NA NA VAMP1 6843 broad.mit.edu 37 12 6573649 6573649 + Frame_Shift_Del DEL T T - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:6573649delT uc001qok.2 - 5 490 c.344delA c.(343-345)TACfs p.Y115fs TAPBPL_uc001qoi.1_Intron|VAMP1_uc001qoj.2_Intron|VAMP1_uc001qol.2_3'UTR NM_014231 NP_055046 P23763 VAMP1_HUMAN vesicle-associated membrane protein 1 isoform 1 115 Helical; Anchor for type IV membrane protein; (Potential). neurotransmitter secretion|vesicle-mediated transport cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome protein binding 0 Botulinum Toxin Type B(DB00042) AGTAAAAAAGTAGACTGGACA 0.473 NA 2 4 --- --- --- --- NA NA NA NA ACSM4 341392 broad.mit.edu 37 12 7457112 7457112 + Frame_Shift_Del DEL G G - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:7457112delG uc001qsx.1 + 1 185 c.185delG c.(184-186)TGGfs p.W62fs NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 62 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CTGGACCAGTGGTCCCAAAAG 0.468 NA 31 71 --- --- --- --- NA NA NA NA CD163L1 283316 broad.mit.edu 37 12 7559427 7559446 + Frame_Shift_Del DEL CTTAGTTCAAGATCACTACT CTTAGTTCAAGATCACTACT - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr12:7559427_7559446delCTTAGTTCAAGATCACTACT uc001qsy.2 - 5 795_814 c.769_788delAGTAGTGATCTTGAACTAAG c.(769-789)AGTAGTGATCTTGAACTAAGGfs p.S257fs CD163L1_uc010sge.1_Frame_Shift_Del_p.S267fs NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 257_263 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ACCTACAAGCCTTAGTTCAAGATCACTACTATCTGAAACA 0.414 NA 18 89 --- --- --- --- NA NA NA NA RNASE3 6037 broad.mit.edu 37 14 21360216 21360216 + Frame_Shift_Del DEL C C - rs2073342 byFrequency TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:21360216delC uc001vyj.2 + 2 425 c.371delC c.(370-372)ACGfs p.T124fs NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 124 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) TCAAACTGCACGTATGCAGAC 0.468 NA 55 45 --- --- --- --- NA NA NA NA MYH7 4625 broad.mit.edu 37 14 23887419 23887419 + Frame_Shift_Del DEL T T - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr14:23887419delT uc001wjx.2 - 30 4275 c.4169delA c.(4168-4170)AAGfs p.K1390fs MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1390 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAGAACTCACTTGGCCTCCTC 0.617 NA 49 28 --- --- --- --- NA NA NA NA ZNF750 79755 broad.mit.edu 37 17 80789871 80789872 + Frame_Shift_Ins INS - - T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr17:80789871_80789872insT uc002kga.2 - 2 770_771 c.459_460insA c.(457-462)CTGGAAfs p.L153fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 153_154 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTGCGCCTTCCAGAGCAGGCT 0.658 NA 36 15 --- --- --- --- NA NA NA NA PSG9 5678 broad.mit.edu 37 19 43772264 43772264 + Frame_Shift_Del DEL G G - rs143419745 byFrequency TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr19:43772264delG uc002owd.3 - 2 201 c.102delC c.(100-102)GCCfs p.A34fs PSG9_uc002owe.3_Frame_Shift_Del_p.A34fs|PSG9_uc010xwm.1_Frame_Shift_Del_p.A34fs|PSG9_uc002owf.3_Frame_Shift_Del_p.A34fs|PSG9_uc002owg.2_Frame_Shift_Del_p.A34fs|PSG9_uc002owh.2_Frame_Shift_Del_p.A34fs NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 34 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TCGTGACTTCGGCAGTGGTGG 0.488 NA 92 166 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187542674 187542675 + Frame_Shift_Ins INS - - CC TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr4:187542674_187542675insCC uc003izf.2 - 10 5253_5254 c.5065_5066insGG c.(5065-5067)GTTfs p.V1689fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1689 Extracellular (Potential).|Cadherin 15. 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 ATGGGCTGTAACCATCCCAACG 0.386 NA HNSCC(5;0.00058) 28 56 --- --- --- --- NA NA NA NA SLC27A6 28965 broad.mit.edu 37 5 128351610 128351610 + Frame_Shift_Del DEL G G - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:128351610delG uc003kuy.2 + 6 1398 c.1002delG c.(1000-1002)TTGfs p.L334fs SLC27A6_uc003kuz.2_Frame_Shift_Del_p.L334fs NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 334 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGGTGCGTTTGGCAATTGGAA 0.328 NA 19 29 --- --- --- --- NA NA NA NA ADAMTS19 171019 broad.mit.edu 37 5 129001220 129001221 + Frame_Shift_Ins INS - - A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:129001220_129001221insA uc003kvb.1 + 16 2436_2437 c.2436_2437insA c.(2434-2439)GCTGGAfs p.A812fs ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 812_813 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGATACCTGCTGGAGCAAGAAG 0.406 NA 7 6 --- --- --- --- NA NA NA NA RBM27 54439 broad.mit.edu 37 5 145648991 145648992 + Frame_Shift_Ins INS - - T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr5:145648991_145648992insT uc003lnz.3 + 17 2701_2702 c.2535_2536insT c.(2533-2538)ATATCCfs p.I845fs RBM27_uc003lny.2_Frame_Shift_Ins_p.I790fs NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 845_846 Potential. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGATGTTAATATCCAAGTTAGA 0.243 NA 8 20 --- --- --- --- NA NA NA NA MDFIC 29969 broad.mit.edu 37 7 114563068 114563068 + Frame_Shift_Del DEL G G - TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr7:114563068delG uc003vhf.2 + 2 570 c.307delG c.(307-309)GCGfs p.A103fs MDFIC_uc003vhg.2_RNA NM_199072 NP_951038 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing protein Error:Variant_position_missing_in_Q9P1T7_after_alignment activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus cyclin binding|Tat protein binding ovary(1) 1 GCGGCGCGGCGCGGGCTCGGC 0.771 NA 5 4 --- --- --- --- NA NA NA NA CHD7 55636 broad.mit.edu 37 8 61693942 61693943 + In_Frame_Ins INS - - AAAGCA TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chr8:61693942_61693943insAAAGCA uc003xue.2 + 3 2526_2527 c.2049_2050insAAAGCA c.(2047-2052)insAAAGCA p.685_686insKA NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 685_686 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAAGGAAAAGAAAGCAAAAAC 0.45 NA 6 2 --- --- --- --- NA NA NA NA DACH2 117154 broad.mit.edu 37 X 85969660 85969661 + Frame_Shift_Ins INS - - A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e748f828-0b80-47f3-aa92-fb3b2be0dcc2 1b1a16fa-937e-4a09-a53e-20a9057b47d8 g.chrX:85969660_85969661insA uc004eew.2 + 6 1211_1212 c.1041_1042insA c.(1039-1044)GCCAACfs p.A347fs DACH2_uc004eex.2_Frame_Shift_Ins_p.A334fs|DACH2_uc010nmq.2_Frame_Shift_Ins_p.A213fs|DACH2_uc011mra.1_Frame_Shift_Ins_p.A180fs|DACH2_uc010nmr.2_Frame_Shift_Ins_p.A128fs|DACH2_uc004eey.2_Frame_Shift_Ins_p.A30fs|DACH2_uc004eez.2_Frame_Shift_Ins_p.A30fs NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 347_348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ATACTATTGCCAACATGGCTGC 0.446 NA 21 33 --- --- --- --- NA NA NA NA