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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut PTCHD2 57540 broad.mit.edu 37 1 11576212 11576212 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:11576212C>G uc001ash.3 + 6 1881 c.1743C>G c.(1741-1743)TTC>TTG p.F581L PTCHD2_uc001asi.1_Missense_Mutation_p.F581L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 581 Helical; (Potential).|SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTAACGTCTTCTCCCAGGTGC 0.622 NA 8 57 0 0 0.006214 0 0 USP48 84196 broad.mit.edu 37 1 22032648 22032648 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:22032648G>C uc001bfb.2 - 18 2482 c.2244C>G c.(2242-2244)TTC>TTG p.F748L USP48_uc001bfa.2_Missense_Mutation_p.F286L|USP48_uc010odq.1_Missense_Mutation_p.F760L|USP48_uc009vqc.2_Missense_Mutation_p.F682L|USP48_uc001bfc.2_Missense_Mutation_p.F748L|USP48_uc001bfd.1_5'Flank NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 748 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CTTCTACAAAGAACTGAGACA 0.343 NA 3 49 0 0 0.000248 0 0 ZDHHC18 84243 broad.mit.edu 37 1 27159094 27159094 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:27159094G>A uc001bnb.2 + 2 587 c.492G>A c.(490-492)CAG>CAA p.Q164Q ZDHHC18_uc010ofh.1_Silent_p.Q29Q NM_032283 NP_115659 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 164 integral to membrane zinc ion binding 0 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TGGAGAAACAGATCGGTGAGG 0.537 NA 7 54 0 0 0.001984 0 0 PTPRU 10076 broad.mit.edu 37 1 29618506 29618506 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:29618506C>T uc001bru.2 + 16 2584 c.2474C>T c.(2473-2475)TCC>TTC p.S825F PTPRU_uc001brv.2_Missense_Mutation_p.S815F|PTPRU_uc001brw.2_Missense_Mutation_p.S815F|PTPRU_uc009vtq.2_Missense_Mutation_p.S815F|PTPRU_uc009vtr.2_Missense_Mutation_p.S815F NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 825 Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTGGGCCTGTCCTTCATGGAC 0.632 NA 7 72 0 0 0.006214 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32497185 32497185 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:32497185G>C uc001bub.2 + 3 674 c.568G>C c.(568-570)GAG>CAG p.E190Q KHDRBS1_uc001bua.1_Intron|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 190 KH. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACTGCAGGAAGAGACTGGTGC 0.393 Ovarian(173;401 1982 12359 31110 42403) NA 8 97 0 0 0.00308 0 0 MEAF6 64769 broad.mit.edu 37 1 37974889 37974889 + Silent SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:37974889G>T uc001cbg.1 - 4 347 c.330C>A c.(328-330)CTC>CTA p.L110L MEAF6_uc001cbd.1_Silent_p.L88L|MEAF6_uc001cbe.1_Silent_p.L110L|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Silent_p.L110L NM_022756 NP_073593 Q9HAF1 EAF6_HUMAN MYST/Esa1-associated factor 6 110 histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding 0 TCTTTTCAATGAGCTGGTCCT 0.403 NA 16 101 2.32078e-09 3.49707e-09 0.003163 1 0 GJA9 81025 broad.mit.edu 37 1 39340485 39340485 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:39340485G>C uc001cct.1 - 2 1567 c.1286C>G c.(1285-1287)TCT>TGT p.S429C RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 429 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) ATGTTCTGTAGAGGAACCCCA 0.512 NA 3 63 0 0 0.004672 0 0 MACF1 23499 broad.mit.edu 37 1 39889739 39889739 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:39889739G>A uc010oiu.1 + 25 11640 c.11509G>A c.(11509-11511)GAC>AAC p.D3837N MACF1_uc010ois.1_Missense_Mutation_p.D3335N|MACF1_uc001cda.1_Missense_Mutation_p.D3222N|MACF1_uc001cdc.1_Missense_Mutation_p.D2401N NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5402 Spectrin 7. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCCACAGTAGACATGCTTCA 0.448 NA 5 64 0 0 0.001168 0 0 PIK3R3 8503 broad.mit.edu 37 1 46532698 46532698 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:46532698G>A uc001cpb.3 - 4 1136 c.380C>T c.(379-381)CCT>CTT p.P127L PIK3R3_uc009vyb.2_Missense_Mutation_p.P127L|PIK3R3_uc009vyc.2_Missense_Mutation_p.P144L|PIK3R3_uc001cpc.3_Missense_Mutation_p.P127L|PIK3R3_uc010olw.1_Missense_Mutation_p.P173L NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 127 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) AAATGTCAGAGGATCAGAAAA 0.398 NA 14 123 0 0 0.001855 0 0 CMPK1 51727 broad.mit.edu 37 1 47838678 47838678 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:47838678G>C uc001cri.2 + 3 519 c.370G>C c.(370-372)GAT>CAT p.D124H CMPK1_uc010omp.1_Missense_Mutation_p.D75H|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 92 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) ATTCTTGATTGATGGGTTTCC 0.353 NA 3 42 0 0 0.004672 0 0 LRRC7 57554 broad.mit.edu 37 1 70555443 70555443 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:70555443G>C uc001dep.2 + 23 4402 c.4372G>C c.(4372-4374)GGA>CGA p.G1458R LRRC7_uc009wbg.2_Missense_Mutation_p.G742R|LRRC7_uc001deq.2_Missense_Mutation_p.G652R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1458 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCCTGGCCTTGGATTTAGTAT 0.289 NA 5 33 0 0 0.001168 0 0 TNNI3K 51086 broad.mit.edu 37 1 74834796 74834796 + Nonsense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:74834796C>G uc001dgf.1 + 14 1463 c.1412C>G c.(1411-1413)TCA>TGA p.S471* TNNI3K_uc001dgc.1_Nonsense_Mutation_p.S572*|TNNI3K_uc001dgd.2_Nonsense_Mutation_p.S572*|TNNI3K_uc001dge.1_Nonsense_Mutation_p.S572* NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 471 ATP (By similarity).|Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ATTATTGGCTCAGGTAACCta 0.333 NA 3 23 0 0 0.004672 0 0 AGL 178 broad.mit.edu 37 1 100358154 100358154 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:100358154C>G uc001dsi.1 + 24 3650 c.3250C>G c.(3250-3252)CTA>GTA p.L1084V AGL_uc001dsj.1_Missense_Mutation_p.L1084V|AGL_uc001dsk.1_Missense_Mutation_p.L1084V|AGL_uc001dsl.1_Missense_Mutation_p.L1084V|AGL_uc001dsm.1_Missense_Mutation_p.L1068V|AGL_uc001dsn.1_Missense_Mutation_p.L1067V NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1084 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTGTGTTTCTCTAGCTGCAGG 0.343 NA 4 23 0 0 0.000602 0 0 VAV3 10451 broad.mit.edu 37 1 108319902 108319902 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:108319902C>G uc001dvk.1 - 4 451 c.397G>C c.(397-399)GAA>CAA p.E133Q VAV3_uc010ouw.1_Missense_Mutation_p.E133Q|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E133Q NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 133 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTAATGCTTTCTTCTGTTGGG 0.388 NA 7 51 0 0 0.004482 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368669 145368669 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:145368669C>T uc001end.3 + 86 10907 c.10872C>T c.(10870-10872)GTC>GTT p.V3624V NBPF9_uc010oye.1_Silent_p.V908V|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.V477V|NBPF10_uc010oyk.1_Silent_p.V265V|NBPF10_uc010oyl.1_Silent_p.V265V NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3549 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGATGGGAGTCATATTCCCAC 0.448 NA 22 466 0 0 0.008361 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859277 149859277 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:149859277G>A uc001ete.2 - 1 190 c.190C>T c.(190-192)CTG>TTG p.L64L HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 64 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCAGCTCCAGAATTTCCGCG 0.632 NA 5 67 0 0 0.001168 0 0 PRPF3 9129 broad.mit.edu 37 1 150316917 150316917 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:150316917G>A uc001eum.3 + 12 1696 c.1534G>A c.(1534-1536)GAA>AAA p.E512K PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.E471K|PRPF3_uc010pcb.1_Missense_Mutation_p.E463K|PRPF3_uc009wlq.1_RNA NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 512 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CAGAGCGCATGAAGAGGCCAA 0.483 Ovarian(168;1070 2670 5178 20729) NA 8 107 0 0 0.006214 0 0 TCHH 7062 broad.mit.edu 37 1 152081957 152081957 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:152081957C>G uc001ezp.2 - 2 3736 c.3736G>C c.(3736-3738)GAG>CAG p.E1246Q TCHH_uc009wne.1_Missense_Mutation_p.E1246Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1246 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTCATTCTCTCTGCCTTTG 0.512 NA 7 87 0 0 0.001984 0 0 CD1E 913 broad.mit.edu 37 1 158324255 158324255 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:158324255C>A uc001fse.2 + 2 386 c.147C>A c.(145-147)AGC>AGA p.S49R CD1E_uc010pid.1_Missense_Mutation_p.S47R|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.S49R|CD1E_uc001fsk.2_Missense_Mutation_p.S49R|CD1E_uc001fsj.2_Missense_Mutation_p.S49R|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.S49R|CD1E_uc001fry.2_Missense_Mutation_p.S49R|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.S49R|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.S49R|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 49 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) CCAACCACAGCTGGGCACACA 0.582 NA 10 106 9.70103e-10 1.47188e-09 0.008291 1 0 IFI16 3428 broad.mit.edu 37 1 158988382 158988382 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:158988382G>A uc001ftf.1 + 6 1520 c.913G>A c.(913-915)GAT>AAT p.D305N IFI16_uc001ftg.2_Missense_Mutation_p.D305N|IFI16_uc010pis.1_Missense_Mutation_p.D249N NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 305 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TCTGAAGATTGATATTCTTCA 0.353 NA 11 72 0 0 0.001368 0 0 APCS 325 broad.mit.edu 37 1 159558241 159558241 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:159558241C>T uc001ftv.2 + 2 511 c.415C>T c.(415-417)CGA>TGA p.R139* NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 139 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) AAAGGGTCTGCGACAGGGTTA 0.507 NA 6 56 0 0 0.001984 0 0 BLZF1 8548 broad.mit.edu 37 1 169347731 169347731 + Missense_Mutation SNP A A C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:169347731A>C uc001gfx.1 + 4 1069 c.632A>C c.(631-633)CAG>CCG p.Q211P BLZF1_uc001gfy.2_Missense_Mutation_p.Q211P|BLZF1_uc009wvp.1_Missense_Mutation_p.Q188P NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 211 Potential. cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) ATGTCAATACAGTGTGATGTA 0.383 NA 24 81 0 0 0.00333 0 0 DNM3 26052 broad.mit.edu 37 1 172011224 172011224 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172011224C>G uc001gie.2 + 8 1244 c.1068C>G c.(1066-1068)CTC>CTG p.L356L DNM3_uc001gid.3_Silent_p.L356L|DNM3_uc009wwb.2_Silent_p.L356L|DNM3_uc001gif.2_Silent_p.L356L NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 356 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CCCTGGAACTCTCAGGTGGTG 0.368 NA 9 82 0 0 0.006214 0 0 C1orf9 51430 broad.mit.edu 37 1 172579328 172579328 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172579328G>C uc001giq.3 + 24 4010 c.3694G>C c.(3694-3696)GAC>CAC p.D1232H C1orf9_uc009wwd.2_Missense_Mutation_p.D1188H|C1orf9_uc010pmn.1_Missense_Mutation_p.D861H|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 1232 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) GAGCCTGCATGACATAATCAA 0.388 Colon(43;174 953 11768 38880 47057) NA 9 35 0 0 0.008291 0 0 FASLG 356 broad.mit.edu 37 1 172629280 172629280 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172629280G>C uc001gis.2 + 2 551 c.394G>C c.(394-396)GGC>CGC p.G132R FASLG_uc001git.2_Intron NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 132 Extracellular (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 GAAGCAAATAGGTGAGTCTTT 0.358 Ovarian(28;486 876 30334 44033) NA 3 66 0 0 0.000602 0 0 FAM5B 57795 broad.mit.edu 37 1 177245507 177245507 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:177245507G>C uc001glf.2 + 6 1261 c.949G>C c.(949-951)GAG>CAG p.E317Q FAM5B_uc010pna.1_Missense_Mutation_p.E67Q|FAM5B_uc001glg.2_Missense_Mutation_p.E212Q NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 317 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CCAGGCCATGGAGGACAGCCT 0.557 NA 3 40 0 0 0.000248 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820418 179820418 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:179820418C>T uc001gnk.2 - 4 503 c.115G>A c.(115-117)GAA>AAA p.E39K TOR1AIP2_uc001gnl.2_Missense_Mutation_p.E39K NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 39 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 ATCTCAGCTTCTTCAGCATTA 0.413 NA 8 85 0 0 0.00308 0 0 HMCN1 83872 broad.mit.edu 37 1 186086243 186086243 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:186086243C>G uc001grq.1 + 76 11908 c.11679C>G c.(11677-11679)GTC>GTG p.V3893V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3893 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATCTCACTGTCCAAGGTAGAA 0.373 NA 7 70 0 0 0.00308 0 0 ELF3 1999 broad.mit.edu 37 1 201980376 201980376 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:201980376G>C uc001gxg.3 + 1 3304 c.112G>C c.(112-114)GAT>CAT p.D38H ELF3_uc001gxi.3_Missense_Mutation_p.D38H|ELF3_uc001gxh.3_Missense_Mutation_p.D38H NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 38 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CTTTGGGGCCGATGACTTGGT 0.572 NA 8 90 0 0 0.00308 0 0 MFSD4 148808 broad.mit.edu 37 1 205553109 205553109 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:205553109G>A uc001hcv.3 + 4 803 c.717G>A c.(715-717)ATG>ATA p.M239I MFSD4_uc010prk.1_Missense_Mutation_p.M152I|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.M184I NM_181644 NP_857595 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 239 Helical; (Potential). transmembrane transport integral to membrane skin(2)|central_nervous_system(1) 3 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGTGCTGATGCTGCTGTCCA 0.642 NA 8 61 0 0 0.006214 0 0 FAM71A 149647 broad.mit.edu 37 1 212799595 212799595 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:212799595C>T uc001hjk.2 + 1 1780 c.1376C>T c.(1375-1377)TCC>TTC p.S459F uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 459 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CAAAAGTCCTCCAGCAGGTCC 0.552 NA 6 53 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237777351 237777351 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:237777351C>T uc001hyl.1 + 37 5043 c.4923C>T c.(4921-4923)ATC>ATT p.I1641I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1641 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTTGACATCTTAGAGTTGA 0.438 NA 5 49 0 0 0.000602 0 0 ZP4 57829 broad.mit.edu 37 1 238046082 238046082 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:238046082C>T uc001hym.2 - 11 1455 c.1455G>A c.(1453-1455)ATG>ATA p.M485I LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 485 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGAGTAGAATCATGGGGCCTT 0.393 NSCLC(166;160 2029 11600 18754 19936) NA 13 65 0 0 0.003163 0 0 OR2T34 127068 broad.mit.edu 37 1 248737462 248737462 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:248737462G>A uc001iep.1 - 1 597 c.597C>T c.(595-597)CTC>CTT p.L199L NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCATCTTATAGAGGGAGACGT 0.512 NA 22 275 0 0 0.004656 0 0 TMEM26 219623 broad.mit.edu 37 10 63212759 63212759 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:63212759C>G uc001jlo.2 - 1 450 c.81G>C c.(79-81)GTG>GTC p.V27V TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 27 integral to membrane 0 Prostate(12;0.0112) TCACCTCGGTCACTCGCCAGA 0.632 NA 18 114 0 0 0.008871 0 0 SORCS1 114815 broad.mit.edu 37 10 108466321 108466321 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:108466321C>G uc001kym.2 - 8 1223 c.1215G>C c.(1213-1215)CCG>CCC p.P405P SORCS1_uc001kyl.2_Silent_p.P405P|SORCS1_uc009xxs.2_Silent_p.P405P|SORCS1_uc001kyn.1_Silent_p.P405P|SORCS1_uc001kyo.2_Silent_p.P405P NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 405 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGCATATTTCGGAAGCTTCA 0.458 NA 5 55 0 0 0.001168 0 0 C10orf120 399814 broad.mit.edu 37 10 124457724 124457724 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:124457724C>A uc001lgn.2 - 3 565 c.533G>T c.(532-534)GGA>GTA p.G178V NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 178 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) CTGATGATTTCCCAGAGCCCG 0.507 NA 17 104 1.96292e-10 2.98853e-10 0.001523 1 0 MUC5B 727897 broad.mit.edu 37 11 1275512 1275512 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:1275512C>G uc009ycr.1 + 56 16545 c.16419C>G c.(16417-16419)CTC>CTG p.L5473L MUC5B_uc001ltb.2_Silent_p.L5139L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5136 VWFD 4. 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) CCCGCGCCCTCAGCATCCACT 0.622 NA 4 47 0 0 0.000248 0 0 TRIM68 55128 broad.mit.edu 37 11 4621894 4621894 + Missense_Mutation SNP C C T rs139399398 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:4621894C>T uc001lzf.1 - 7 1308 c.1070G>A c.(1069-1071)CGG>CAG p.R357Q TRIM68_uc001lzg.1_Missense_Mutation_p.R134Q|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 357 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCAGTAGTGCCGGCCTGAGGA 0.542 NA 9 49 0 0 0.004482 0 0 OR51S1 119692 broad.mit.edu 37 11 4869844 4869844 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:4869844C>T uc010qyo.1 - 1 595 c.595G>A c.(595-597)GAA>AAA p.E199K NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCCAAGCTTCTGGGCAGGCC 0.542 NA 10 99 0 0 0.008291 0 0 OR51M1 390059 broad.mit.edu 37 11 5411219 5411219 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:5411219A>G uc010qzc.1 + 1 591 c.591A>G c.(589-591)ATA>ATG p.I197M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 197 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGTGATACAGCTGGCCT 0.507 NA 11 136 0 0 0.000978 0 0 OR52L1 338751 broad.mit.edu 37 11 6007326 6007326 + Missense_Mutation SNP T T A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:6007326T>A uc001mcd.2 - 1 890 c.835A>T c.(835-837)ACT>TCT p.T279S NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 279 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCGGTGAGTGAGGAAGGAG 0.502 Melanoma(121;653 1666 10547 22796 51255) NA 10 59 0 0 0.008291 0 0 USP47 55031 broad.mit.edu 37 11 11972026 11972026 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:11972026G>C uc001mjs.2 + 24 4343 c.3580G>C c.(3580-3582)GAT>CAT p.D1194H USP47_uc001mjr.2_Missense_Mutation_p.D1126H|USP47_uc009ygi.2_5'UTR NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1214 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TGAAGTTCTTGATGGTATTTT 0.318 NA 7 73 0 0 0.004482 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956268 18956268 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:18956268G>C uc001mpg.2 - 1 282 c.64C>G c.(64-66)CTT>GTT p.L22V NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 22 Extracellular (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 TTGTAGCAAAGAGTCTCCTCA 0.542 NA 21 572 0 0 0.00278 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136376 40136376 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:40136376C>T uc001mxa.1 - 2 3431 c.1467G>A c.(1465-1467)GTG>GTA p.V489V LRRC4C_uc001mxc.1_Silent_p.V485V|LRRC4C_uc001mxd.1_Silent_p.V485V|LRRC4C_uc001mxb.1_Silent_p.V485V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 489 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GAGAGGTGGTCACATTGGTGG 0.522 NA 11 38 0 0 0.008291 0 0 CKAP5 9793 broad.mit.edu 37 11 46819519 46819519 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:46819519T>C uc001ndi.1 - 11 1284 c.1174A>G c.(1174-1176)ACC>GCC p.T392A CKAP5_uc009ylg.1_Missense_Mutation_p.T278A|CKAP5_uc001ndj.1_Missense_Mutation_p.T392A NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 392 HEAT 2. cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TGTAGTGTGGTCTTTAGAAAG 0.303 Ovarian(4;85 273 2202 4844 13323) NA 11 63 0 0 0.001368 0 0 FOLH1 2346 broad.mit.edu 37 11 49207299 49207299 + Nonsense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:49207299C>A uc001ngy.2 - 6 1009 c.748G>T c.(748-750)GGA>TGA p.G250* FOLH1_uc001ngz.2_Nonsense_Mutation_p.G250*|FOLH1_uc009yly.2_Nonsense_Mutation_p.G235*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.G235*|FOLH1_uc009yma.2_Intron NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 250 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACACCACCTCCAGGAAGATTC 0.512 NA 10 53 1.76689e-08 2.65336e-08 0.006214 1 0 OR4C15 81309 broad.mit.edu 37 11 55322305 55322305 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:55322305C>A uc010rig.1 + 1 523 c.523C>A c.(523-525)CGT>AGT p.R175S NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGCCTATGATCGTTATGTGGC 0.507 NA HNSCC(20;0.049) 21 94 1.50039e-11 2.30829e-11 0.001882 1 0 OR4D6 219983 broad.mit.edu 37 11 59224838 59224838 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:59224838G>A uc010rku.1 + 1 405 c.405G>A c.(403-405)ATG>ATA p.M135I NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGTGACCATGATGAGGAAAG 0.488 NA 19 181 0 0 0.008871 0 0 OR4D11 219986 broad.mit.edu 37 11 59271749 59271749 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:59271749G>T uc001noa.1 + 1 701 c.701G>T c.(700-702)AGG>ATG p.R234M NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGGGGCAGGAGGAAAGCCATC 0.557 NA 25 173 1.36565e-18 2.13838e-18 0.00278 1 0 AHNAK 79026 broad.mit.edu 37 11 62289822 62289822 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62289822G>C uc001ntl.2 - 5 12367 c.12067C>G c.(12067-12069)CTG>GTG p.L4023V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4023 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCTTAGGCAGAGAAACATCC 0.493 NA 35 238 0 0 0.002836 0 0 UBXN1 51035 broad.mit.edu 37 11 62445299 62445299 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62445299C>G uc001nul.1 - 6 620 c.488G>C c.(487-489)AGA>ACA p.R163T UBXN1_uc001nuj.2_Missense_Mutation_p.R163T|UBXN1_uc001num.1_Missense_Mutation_p.R159T|UBXN1_uc001nuk.2_Missense_Mutation_p.R128T|UBXN1_uc010rme.1_Missense_Mutation_p.R163T NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 163 Potential.|Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 TTCTCTAACTCTTTGTCTGAA 0.438 NA 10 75 0 0 0.006214 0 0 UBXN1 51035 broad.mit.edu 37 11 62445457 62445457 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62445457C>T uc001nul.1 - 5 556 c.424G>A c.(424-426)GAG>AAG p.E142K UBXN1_uc001nuj.2_Missense_Mutation_p.E142K|UBXN1_uc001num.1_Missense_Mutation_p.E142K|UBXN1_uc001nuk.2_Missense_Mutation_p.E107K|UBXN1_uc010rme.1_Missense_Mutation_p.E142K|UBXN1_uc010rmf.1_3'UTR NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 142 Potential.|Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 CGGCGCATCTCATCTTCCTGT 0.577 NA 7 33 0 0 0.001984 0 0 TMEM179B 374395 broad.mit.edu 37 11 62556550 62556550 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62556550C>T uc001nvd.3 + 2 182 c.152C>T c.(151-153)TCC>TTC p.S51F NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 51 integral to membrane 0 AATGGCTCCTCCCTGGCCTTA 0.567 NA 13 116 0 0 0.001368 0 0 STIP1 10963 broad.mit.edu 37 11 63971032 63971032 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:63971032G>C uc001nyk.1 + 13 1644 c.1497G>C c.(1495-1497)ATG>ATC p.M499I STIP1_uc010rnb.1_Missense_Mutation_p.M475I NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 499 STI1 2. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 AGCAGATCATGAGTGACCCAG 0.597 NA 5 42 0 0 0.000602 0 0 RBM4 5936 broad.mit.edu 37 11 66407528 66407528 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:66407528G>C uc009yrj.2 + 2 834 c.346G>C c.(346-348)GTA>CTA p.V116L RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.V116L|RBM4_uc001oiw.1_Missense_Mutation_p.V116L|RBM4_uc001oix.1_Missense_Mutation_p.V116L|RBM4_uc010rpj.1_Missense_Mutation_p.V116L|RBM4_uc001oiy.1_Missense_Mutation_p.V116L|RBM4_uc001oiz.1_Missense_Mutation_p.V116L NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 116 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) TTATGCCTTCGTACACATGGA 0.527 NA 12 109 0 0 0.00245 0 0 NUMA1 4926 broad.mit.edu 37 11 71717294 71717294 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:71717294C>G uc001orl.1 - 22 5651 c.5479G>C c.(5479-5481)GAG>CAG p.E1827Q NUMA1_uc001orj.2_Missense_Mutation_p.E9Q|NUMA1_uc009ysw.1_Missense_Mutation_p.E1394Q|NUMA1_uc001ork.1_Missense_Mutation_p.E691Q|NUMA1_uc001orm.1_Missense_Mutation_p.E1813Q NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1827 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTGTCTGGCTCTTCCACATCT 0.562 NA T RARA APL 5 45 0 0 0.000602 0 0 GRM5 2915 broad.mit.edu 37 11 88780521 88780521 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:88780521C>T uc001pcq.2 - 1 720 c.520G>A c.(520-522)GCA>ACA p.A174T GRM5_uc009yvm.2_Missense_Mutation_p.A174T|GRM5_uc009yvn.1_Missense_Mutation_p.A174T NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 174 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATGCTGGTTGCTGAGTAAGCA 0.488 NA 7 63 0 0 0.001984 0 0 TMEM133 83935 broad.mit.edu 37 11 100863119 100863119 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:100863119G>T uc001pgf.2 + 1 309 c.80G>T c.(79-81)TGT>TTT p.C27F NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN transmembrane protein 133 27 integral to membrane 0 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CTTGACTATTGTCCAGAAGTT 0.438 NA 23 77 3.5997e-14 5.59671e-14 0.002299 1 0 APOA4 337 broad.mit.edu 37 11 116693391 116693391 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:116693391G>A uc001pps.1 - 2 264 c.160C>T c.(160-162)CTC>TTC p.L54F NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGCTGGGTGAGTTCAGATTTC 0.428 NA 28 287 0 0 0.008361 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120291464 120291464 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:120291464C>G uc001pxl.1 + 5 209 c.202C>G c.(202-204)CTT>GTT p.L68V ARHGEF12_uc009zat.2_Missense_Mutation_p.L49V|ARHGEF12_uc010rzn.1_5'UTR|ARHGEF12_uc009zau.1_5'UTR NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 68 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTGTGCAGGTCTTGTTCAGCG 0.403 NA T MLL AML 4 34 0 0 0.000248 0 0 HEPN1 641654 broad.mit.edu 37 11 124789818 124789818 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:124789818G>C uc001qbj.1 + 1 673 c.172G>C c.(172-174)GAT>CAT p.D58H HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR NM_001037558 NP_001032647 Q6WQI6 HEPN1_HUMAN HEPACAM opposite strand 1 58 cytoplasm 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) TCACACAGTAGATTACTGCCA 0.493 NA 7 82 0 0 0.001984 0 0 KIRREL3 84623 broad.mit.edu 37 11 126306811 126306811 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:126306811G>C uc001qea.2 - 12 1808 c.1447C>G c.(1447-1449)CTG>GTG p.L483V KIRREL3_uc001qeb.2_Missense_Mutation_p.L483V|KIRREL3_uc001qec.1_Missense_Mutation_p.L483V|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 483 Extracellular (Potential).|Ig-like C2-type 5. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CTGATGGTCAGGGTGGAGATG 0.617 NA 4 33 0 0 0.000248 0 0 ERC1 23085 broad.mit.edu 37 12 1221420 1221420 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:1221420C>G uc001qjb.2 + 6 1598 c.1357C>G c.(1357-1359)CAA>GAA p.Q453E ERC1_uc001qiz.2_Intron|ERC1_uc001qjc.2_Intron|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.Q453E|ERC1_uc010sdv.1_Intron|ERC1_uc009zdp.2_Missense_Mutation_p.Q90E NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 453 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAAAGAGGCTCAATGGGAGGA 0.458 NA 12 124 0 0 0.00245 0 0 GSG1 83445 broad.mit.edu 37 12 13240941 13240941 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:13240941G>A uc001rbn.2 - 5 707 c.534C>T c.(532-534)TTC>TTT p.F178F GSG1_uc001rbj.2_Silent_p.F142F|GSG1_uc001rbk.2_Missense_Mutation_p.H184Y|GSG1_uc001rbl.2_Intron|GSG1_uc001rbm.2_Intron|GSG1_uc001rbo.2_Missense_Mutation_p.H220Y|GSG1_uc001rbp.2_Silent_p.F155F|GSG1_uc001rbq.1_Missense_Mutation_p.H220Y NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 165 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GGAAGCTGATGAATTGAAGTC 0.512 NA 16 113 0 0 0.006122 0 0 CASC1 55259 broad.mit.edu 37 12 25272230 25272230 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:25272230G>C uc001rgl.2 - 11 1309 c.1227C>G c.(1225-1227)CTC>CTG p.L409L CASC1_uc001rgk.2_Silent_p.L415L|CASC1_uc001rgm.3_Silent_p.L473L|CASC1_uc001rgj.2_Silent_p.L369L|CASC1_uc010sje.1_Silent_p.L350L|CASC1_uc010sjf.1_Silent_p.L297L|CASC1_uc010sjg.1_Silent_p.L409L NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 409 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATCCTTCTTTGAGTATCTTTT 0.323 NA 5 71 0 0 0.000602 0 0 AAAS 8086 broad.mit.edu 37 12 53709147 53709147 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:53709147A>G uc001scr.3 - 4 534 c.371T>C c.(370-372)CTC>CCC p.L124P AAAS_uc001scs.3_Missense_Mutation_p.L124P NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 124 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 GGACCCATGGAGGGAAGAGGC 0.562 NA 4 25 0 0 0.001168 0 0 OR6C6 283365 broad.mit.edu 37 12 55688558 55688558 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:55688558G>A uc010sph.1 - 1 459 c.459C>T c.(457-459)ATC>ATT p.I153I NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GGGGAAATATGATTAAGAATC 0.418 NA 6 46 0 0 0.001168 0 0 ATP5B 506 broad.mit.edu 37 12 57032983 57032983 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:57032983G>C uc001slr.2 - 9 1501 c.1396C>G c.(1396-1398)CAG>GAG p.Q466E BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 466 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 TGGAATGGCTGAGACAAGAAA 0.498 NA 15 156 0 0 0.003163 0 0 ATP5B 506 broad.mit.edu 37 12 57036523 57036523 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:57036523G>A uc001slr.2 - 6 990 c.885C>T c.(883-885)GAC>GAT p.D295D NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 295 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 GACCTTCTTGGTCTCTGAAGT 0.498 NA 11 84 0 0 0.008291 0 0 BEST3 144453 broad.mit.edu 37 12 70049076 70049076 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:70049076C>T uc001svg.2 - 10 1845 c.1618G>A c.(1618-1620)GAG>AAG p.E540K BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E327K|BEST3_uc010stm.1_Missense_Mutation_p.E434K NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 540 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGCTGCTGCTCAGTCTTGCTT 0.597 NA 11 424 0 0 0.001855 0 0 BEST3 144453 broad.mit.edu 37 12 70065208 70065208 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:70065208C>T uc001svg.2 - 9 1327 c.1100G>A c.(1099-1101)GGG>GAG p.G367E BEST3_uc001svd.1_Missense_Mutation_p.G367E|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.G154E|BEST3_uc010stm.1_Missense_Mutation_p.G261E|BEST3_uc001svh.2_Missense_Mutation_p.G154E NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 367 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) ATGCACTTACCCCATCTGGAC 0.294 NA 10 150 0 0 0.001368 0 0 PTPRB 5787 broad.mit.edu 37 12 71002895 71002895 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:71002895G>A uc001swb.3 - 2 309 c.279C>T c.(277-279)TTC>TTT p.F93F PTPRB_uc010sto.1_Silent_p.F93F|PTPRB_uc010stp.1_Silent_p.F93F|PTPRB_uc001swc.3_Silent_p.F311F|PTPRB_uc001swa.3_Silent_p.F311F|PTPRB_uc001swd.3_Silent_p.F310F|PTPRB_uc009zrr.1_Silent_p.F190F|PTPRB_uc001swe.2_Silent_p.F311F NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 93 Fibronectin type-III 1.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAATAATCCTGAAGTTATAGA 0.502 NA 7 255 0 0 0.00308 0 0 PTPRR 5801 broad.mit.edu 37 12 71139815 71139815 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:71139815C>G uc001swi.1 - 6 1206 c.790G>C c.(790-792)GAG>CAG p.E264Q PTPRR_uc001swh.1_Missense_Mutation_p.E19Q|PTPRR_uc009zrs.2_Missense_Mutation_p.E113Q|PTPRR_uc010stq.1_Missense_Mutation_p.E152Q|PTPRR_uc010str.1_Missense_Mutation_p.E113Q NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 264 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TGGTTTTTCTCTTTGTCTTGT 0.423 NA 5 115 0 0 0.001168 0 0 TRHDE 29953 broad.mit.edu 37 12 73046174 73046174 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:73046174C>G uc001sxa.2 + 16 2643 c.2613C>G c.(2611-2613)TTC>TTG p.F871L NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 871 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TCTGGGAATTCATATGGATGA 0.388 NA 6 83 0 0 0.001168 0 0 NAV3 89795 broad.mit.edu 37 12 78444604 78444604 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:78444604C>T uc001syp.2 + 11 2366 c.2193C>T c.(2191-2193)CCC>CCT p.P731P NAV3_uc001syo.2_Silent_p.P731P|NAV3_uc010sub.1_Silent_p.P231P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 731 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGACCATACCCAACTTGACAA 0.522 NA HNSCC(70;0.22) 6 72 0 0 0.001984 0 0 TRPV4 59341 broad.mit.edu 37 12 110232288 110232288 + Missense_Mutation SNP C C A rs143502097 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:110232288C>A uc001tpj.1 - 7 1432 c.1337G>T c.(1336-1338)CGC>CTC p.R446L TRPV4_uc001tpg.1_Missense_Mutation_p.R412L|TRPV4_uc001tph.1_Missense_Mutation_p.R399L|TRPV4_uc001tpi.1_Missense_Mutation_p.R339L|TRPV4_uc001tpk.1_Missense_Mutation_p.R446L|TRPV4_uc001tpl.1_Missense_Mutation_p.R386L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 446 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CATCTCGTGGCGGTTCTAAGA 0.647 NA 11 93 1.61879e-10 2.47315e-10 0.001368 1 0 MAPKAPK5 8550 broad.mit.edu 37 12 112323825 112323825 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:112323825G>T uc001tta.2 + 10 1213 c.954G>T c.(952-954)CAG>CAT p.Q318H MAPKAPK5_uc001tsz.2_Missense_Mutation_p.Q318H|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.Q251H NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 318 signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 CTTCTGCTCAGCTGATGATGG 0.527 NA 11 93 1.58986e-06 2.36331e-06 0.008291 1 0 KDM2B 84678 broad.mit.edu 37 12 121890993 121890993 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:121890993C>T uc001uat.2 - 13 1993 c.1889G>A c.(1888-1890)TGC>TAC p.C630Y KDM2B_uc001uaq.2_Missense_Mutation_p.C70Y|KDM2B_uc010szy.1_Missense_Mutation_p.C70Y|KDM2B_uc001uar.2_Missense_Mutation_p.C221Y|KDM2B_uc001uas.2_Missense_Mutation_p.C599Y|KDM2B_uc001uau.2_Missense_Mutation_p.C513Y NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 630 CXXC-type. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CATGTCCTTGCAGAAGTGGCA 0.697 NA 4 40 0 0 0.000248 0 0 VPS33A 65082 broad.mit.edu 37 12 122729173 122729173 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:122729173G>T uc001ucd.2 - 7 1025 c.912C>A c.(910-912)TTC>TTA p.F304L VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 304 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CAACTGCGTTGAAGTTCTTAT 0.507 NA 16 64 1.3612e-06 2.03027e-06 0.003163 1 0 FLT1 2321 broad.mit.edu 37 13 28885795 28885795 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:28885795G>A uc001usb.3 - 27 3852 c.3567C>T c.(3565-3567)TTC>TTT p.F1189F FLT1_uc010aap.2_Silent_p.F194F|FLT1_uc010aaq.2_Silent_p.F314F|FLT1_uc001usa.3_Silent_p.F407F NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1189 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGTCCTCAGAGAAGGCAGGAG 0.398 NA 6 28 0 0 0.001168 0 0 STARD13 90627 broad.mit.edu 37 13 33700248 33700248 + Silent SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:33700248C>A uc001uuw.2 - 7 2178 c.2052G>T c.(2050-2052)CTG>CTT p.L684L STARD13_uc001uuu.2_Silent_p.L676L|STARD13_uc001uuv.2_Silent_p.L566L|STARD13_uc001uux.2_Silent_p.L649L|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 684 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTAGATATCTCAGTGCTTGCT 0.552 NA 12 84 0.000151284 0.000218246 0.001855 1 0 TRPC4 7223 broad.mit.edu 37 13 38237715 38237715 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:38237715A>G uc001uws.2 - 6 1761 c.1526T>C c.(1525-1527)CTG>CCG p.L509P TRPC4_uc010abv.2_Missense_Mutation_p.L89P|TRPC4_uc001uwt.2_Missense_Mutation_p.L509P|TRPC4_uc010tey.1_Missense_Mutation_p.L509P|TRPC4_uc010abw.2_Missense_Mutation_p.L336P|TRPC4_uc010abx.2_Missense_Mutation_p.L509P|TRPC4_uc010aby.2_Missense_Mutation_p.L509P NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 509 Cytoplasmic (Potential). 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) CATTCTTCCCAGAGATATTTG 0.398 NA 13 31 0 0 0.001855 0 0 LMO7 4008 broad.mit.edu 37 13 76395416 76395416 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:76395416G>C uc001vjv.2 + 11 2372 c.1612G>C c.(1612-1614)GAA>CAA p.E538Q LMO7_uc010thv.1_Missense_Mutation_p.E489Q|LMO7_uc001vjt.1_Missense_Mutation_p.E437Q|LMO7_uc010thw.1_Missense_Mutation_p.E388Q|LMO7_uc001vjw.1_Missense_Mutation_p.E444Q NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 823 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GACTGTGTCAGAAGCAAGTTA 0.428 NA 6 50 0 0 0.001168 0 0 ACIN1 22985 broad.mit.edu 37 14 23532787 23532787 + Splice_Site SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr14:23532787C>G uc001wit.3 - 13 3098 c.2770_splice c.e13-1 p.V924_splice ACIN1_uc001wio.3_Splice_Site|ACIN1_uc001wip.3_Splice_Site_p.V166_splice|ACIN1_uc001wiq.3_Splice_Site_p.V166_splice|ACIN1_uc001wir.3_Splice_Site_p.V197_splice|ACIN1_uc001wis.3_Splice_Site_p.V605_splice|ACIN1_uc010akg.2_Splice_Site_p.V911_splice NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CAGGTACTACCTATCAAGGTG 0.502 NA 9 79 0 0 0.004482 0 0 RPAP1 26015 broad.mit.edu 37 15 41810036 41810036 + Missense_Mutation SNP C C T rs147536655 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:41810036C>T uc001zod.2 - 24 4116 c.3992G>A c.(3991-3993)CGC>CAC p.R1331H RPAP1_uc001zoc.2_Missense_Mutation_p.R350H NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1331 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CATACTCCTGCGGGCAGCTTT 0.567 NA 39 266 0 0 0.006999 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49301449 49301449 + Nonsense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:49301449G>T uc001zxe.1 - 14 2125 c.1991C>A c.(1990-1992)TCA>TAA p.S664* SECISBP2L_uc001zxd.1_Nonsense_Mutation_p.S619*|SECISBP2L_uc010bep.1_Nonsense_Mutation_p.S426* NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 664 breast(1)|skin(1) 2 GGTTATTGTTGAAGATGCCAT 0.383 NA 10 86 3.86212e-05 5.58991e-05 0.008291 1 0 HEXA 3073 broad.mit.edu 37 15 72668262 72668262 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:72668262C>G uc002aun.3 - 1 259 c.52G>C c.(52-54)GGA>CGA p.G18R CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.G18R|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.G18R|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 18 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 GTCGCCCGTCCTGCGAACGCT 0.627 NA 14 115 0 0 0.001855 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76165798 76165798 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:76165798G>A uc002bbg.2 + 5 863 c.477G>A c.(475-477)ATG>ATA p.M159I UBE2Q2_uc002bbh.2_Missense_Mutation_p.M124I|UBE2Q2_uc010umn.1_Missense_Mutation_p.M143I|UBE2Q2_uc002bbi.2_Missense_Mutation_p.M40I NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q 2 isoform 1 159 Glu-rich. protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity ovary(2) 2 ACTATGAGATGAAGGAAGAAG 0.333 NA 4 28 0 0 0.000248 0 0 NARFL 64428 broad.mit.edu 37 16 784253 784253 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:784253G>C uc002cjr.2 - 6 681 c.669C>G c.(667-669)GTC>GTG p.V223V NARFL_uc002cjp.2_Silent_p.V121V|NARFL_uc002cjq.2_Silent_p.V121V|NARFL_uc002cjs.2_Silent_p.V5V|NARFL_uc010brc.1_3'UTR|NARFL_uc010uur.1_Nonsense_Mutation_p.S179*|NARFL_uc010uuq.1_5'Flank NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 223 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) AGAAGTCCTTGACCAGGGAGC 0.642 NA 7 68 0 0 0.001984 0 0 C16orf62 57020 broad.mit.edu 37 16 19663357 19663357 + Silent SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:19663357C>A uc002dgn.1 + 26 2178 c.2166C>A c.(2164-2166)CTC>CTA p.L722L C16orf62_uc002dgo.1_Silent_p.L629L|C16orf62_uc002dgp.1_Silent_p.L471L NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 722 integral to membrane ovary(1) 1 TCACACGTCTCAATCTCTACC 0.547 NA 5 20 3.59834e-05 5.22531e-05 0.001168 1 0 DNAH3 55567 broad.mit.edu 37 16 20975656 20975656 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:20975656C>T uc010vbe.1 - 53 9550 c.9550G>A c.(9550-9552)GAA>AAA p.E3184K DNAH3_uc010vbd.1_Missense_Mutation_p.E619K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3184 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACGGCAACTTCTGGGAGGTAA 0.478 NA 8 80 0 0 0.00308 0 0 CDR2 1039 broad.mit.edu 37 16 22358615 22358615 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:22358615G>C uc002dkn.2 - 5 1344 c.1036C>G c.(1036-1038)CTG>GTG p.L346V NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 346 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) ACTTCGTGCAGAAGGGAGATG 0.567 NA 8 60 0 0 0.004482 0 0 CDR2 1039 broad.mit.edu 37 16 22358863 22358863 + Nonsense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:22358863G>C uc002dkn.2 - 5 1096 c.788C>G c.(787-789)TCA>TGA p.S263* NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 263 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) TGGATGCTCTGACTGCAACAT 0.562 NA 5 88 0 0 0.001984 0 0 RBBP6 5930 broad.mit.edu 37 16 24573246 24573246 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:24573246G>A uc002dmh.2 + 10 2093 c.1053G>A c.(1051-1053)CAG>CAA p.Q351Q RBBP6_uc010vcb.1_Silent_p.Q218Q|RBBP6_uc002dmi.2_Silent_p.Q351Q|RBBP6_uc010bxr.2_Silent_p.Q351Q|RBBP6_uc002dmk.2_Silent_p.Q218Q NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 351 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CACTGATTCAGAGGAACCTAC 0.428 NA 4 58 0 0 0.000248 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147138 26147138 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:26147138C>A uc002dof.2 + 2 1332 c.940C>A c.(940-942)CTG>ATG p.L314M NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 314 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CTTTGAGGTGCTGGCCTTCAA 0.527 NA 26 205 8.24728e-16 1.28681e-15 0.004656 1 0 ZNF688 146542 broad.mit.edu 37 16 30582364 30582364 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:30582364C>T uc002dyt.2 - 2 1055 c.277G>A c.(277-279)GAG>AAG p.E93K ZNF688_uc002dys.2_Missense_Mutation_p.E79K|uc002dyu.2_5'Flank NM_145271 NP_660314 P0C7X2 ZN688_HUMAN zinc finger protein 688 isoform a 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCCCCTTCTCAGGATCCTGG 0.592 NA 5 30 0 0 0.001168 0 0 ZNF688 146542 broad.mit.edu 37 16 30582410 30582410 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:30582410C>T uc002dyt.2 - 2 1009 c.231G>A c.(229-231)TGG>TGA p.W77* ZNF688_uc002dys.2_Nonsense_Mutation_p.W63*|uc002dyu.2_5'Flank NM_145271 NP_660314 P0C7X2 ZN688_HUMAN zinc finger protein 688 isoform a 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTGTTCCATCCAAGAGATGA 0.632 NA 5 22 0 0 0.001168 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31484844 31484844 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:31484844C>T uc002ecd.1 + 2 122 c.96C>T c.(94-96)CTC>CTT p.L32L TGFB1I1_uc002ece.1_Silent_p.L15L|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 32 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CGGAGCCTCTCACCCCTCCCC 0.642 NA 9 59 0 0 0.004482 0 0 RBL2 5934 broad.mit.edu 37 16 53504409 53504409 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:53504409G>C uc002ehi.3 + 16 2478 c.2360G>C c.(2359-2361)GGA>GCA p.G787A RBL2_uc002ehj.2_Missense_Mutation_p.G497A|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 787 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCCCTGGCTGGAAGTCTGAGC 0.552 NA 7 67 0 0 0.00308 0 0 MT1X 4501 broad.mit.edu 37 16 56716476 56716476 + Silent SNP G G A rs147291148 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:56716476G>A uc002ejy.2 + 1 95 c.24G>A c.(22-24)TCG>TCA p.S8S MT1X_uc002ejz.2_RNA NM_005952 NP_005943 P80297 MT1X_HUMAN metallothionein 1X 8 Beta. response to metal ion metal ion binding 0 GCTCCTGCTCGCCTGGTAAGG 0.557 NA 20 161 0 0 0.001523 0 0 ARL2BP 23568 broad.mit.edu 37 16 57286145 57286145 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:57286145C>T uc002elf.1 + 6 700 c.458C>T c.(457-459)TCT>TTT p.S153F ARL2BP_uc010vhl.1_Intron NM_012106 NP_036238 Q9Y2Y0 AR2BP_HUMAN binder of Arl Two 153 maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle protein binding|small GTPase regulator activity|transcription coactivator activity 0 AAATCATCTTCTCTGCCAGCT 0.478 NA 4 68 0 0 0.000602 0 0 GPR56 9289 broad.mit.edu 37 16 57689439 57689439 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:57689439C>T uc002emb.2 + 7 1189 c.897C>T c.(895-897)TTC>TTT p.F299F GPR56_uc002elz.1_Silent_p.F129F|GPR56_uc002ema.1_Silent_p.F124F|GPR56_uc002emc.2_Silent_p.F299F|GPR56_uc002emf.2_Silent_p.F299F|GPR56_uc010vhs.1_Silent_p.F299F|GPR56_uc002emd.2_Silent_p.F299F|GPR56_uc002eme.2_Silent_p.F299F|GPR56_uc010vht.1_Silent_p.F304F|GPR56_uc002emg.3_Silent_p.F299F|GPR56_uc010vhu.1_Silent_p.F124F NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 299 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 AAGCCCTGTTCCAGGTATGGG 0.582 NA 5 41 0 0 0.001168 0 0 KCTD19 146212 broad.mit.edu 37 16 67338468 67338468 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:67338468C>G uc002esu.2 - 3 358 c.307G>C c.(307-309)GAT>CAT p.D103H KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 103 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TTCAGGTTATCTAGAGTCTGT 0.418 NA 15 74 0 0 0.003163 0 0 ZFHX3 463 broad.mit.edu 37 16 72828079 72828079 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:72828079G>C uc002fck.2 - 9 9175 c.8502C>G c.(8500-8502)GAC>GAG p.D2834E ZFHX3_uc002fcl.2_Missense_Mutation_p.D1920E NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2834 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CAGAGGAACAGTCATCGTTGT 0.468 NA 31 122 0 0 0.002096 0 0 PCGF2 7703 broad.mit.edu 37 17 36894636 36894636 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:36894636G>A uc002hqp.1 - 9 789 c.546C>T c.(544-546)CGC>CGT p.R182R PCGF2_uc002hqn.1_Nonsense_Mutation_p.Q184*|PCGF2_uc002hqo.1_Nonsense_Mutation_p.Q184*|PCGF2_uc010cvo.1_Silent_p.R57R|PCGF2_uc002hqq.1_Nonsense_Mutation_p.Q184* NM_007144 NP_009075 P35227 PCGF2_HUMAN ring finger protein 110 182 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 Breast(7;9.07e-22) CCATCTTGTTGCGGAGAAACT 0.572 NA 10 42 0 0 0.008291 0 0 CNP 1267 broad.mit.edu 37 17 40125654 40125654 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:40125654G>A uc002hyl.1 + 4 1122 c.978G>A c.(976-978)GGG>GGA p.G326G CNP_uc010wfz.1_Silent_p.G203G|CNP_uc002hym.1_Silent_p.G306G|CNP_uc010wga.1_Silent_p.G91G|CNP_uc002hyn.1_Silent_p.G91G NM_033133 NP_149124 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 326 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding 0 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) TGCCGCGGGGGAGCCGCGCCC 0.647 NA 9 79 0 0 0.004482 0 0 HOXB6 3216 broad.mit.edu 37 17 46674022 46674022 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:46674022C>A uc002ins.1 - 4 753 c.428G>T c.(427-429)GGG>GTG p.G143V HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.G143V|HOXB6_uc002int.1_3'UTR NM_018952 NP_061825 P17509 HXB6_HUMAN homeobox B6 143 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCGCTGGGCCCAAAGGAGGA 0.652 NA 8 80 0.000157383 0.000226303 0.00308 1 0 NOL11 25926 broad.mit.edu 37 17 65734086 65734086 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:65734086G>C uc002jgd.1 + 13 1530 c.1527G>C c.(1525-1527)TTG>TTC p.L509F NOL11_uc010wql.1_Missense_Mutation_p.L327F|NOL11_uc010deu.1_Missense_Mutation_p.L104F|SNORA38B_uc010dev.2_5'Flank NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 509 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AAATTTTCTTGAGGTAAGTTA 0.328 NA 5 99 0 0 0.000602 0 0 JMJD6 23210 broad.mit.edu 37 17 74721760 74721760 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:74721760C>T uc002jso.2 - 2 631 c.307G>A c.(307-309)GAG>AAG p.E103K JMJD6_uc002jsn.1_Missense_Mutation_p.E103K|JMJD6_uc010dgz.2_Missense_Mutation_p.E103K|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 isoform 2 103 mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding skin(2)|ovary(1) 3 TCGTTATCCTCACCACACTTG 0.468 NA 15 139 0 0 0.003163 0 0 CCDC57 284001 broad.mit.edu 37 17 80085740 80085740 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:80085740C>G uc002kdx.1 - 16 2428 c.2391G>C c.(2389-2391)CAG>CAC p.Q797H CCDC57_uc002kdy.2_Missense_Mutation_p.Q104H NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 798 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TGTCTTCTTTCTGCCGAGGTG 0.572 NA 8 84 0 0 0.000978 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892402 2892402 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:2892402G>C uc002kln.2 + 4 2436 c.2277G>C c.(2275-2277)AAG>AAC p.K759N NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 759 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CTGGCCTGAAGAATTCAGTCC 0.468 NA 10 47 0 0 0.008291 0 0 ASXL3 80816 broad.mit.edu 37 18 31319901 31319901 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:31319901G>A uc010dmg.1 + 11 2588 c.2533G>A c.(2533-2535)GAG>AAG p.E845K ASXL3_uc002kxq.2_Missense_Mutation_p.E552K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 845 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGTTGACACTGAGAAGCCCTA 0.393 NA 6 36 0 0 0.001984 0 0 SLC39A6 25800 broad.mit.edu 37 18 33692482 33692482 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:33692482C>T uc010dmy.2 - 8 2196 c.1906G>A c.(1906-1908)GAG>AAG p.E636K SLC39A6_uc002kzj.2_Missense_Mutation_p.E361K NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 636 Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 TGAGGCAACTCATGACAGAAC 0.378 NA 6 147 0 0 0.00308 0 0 PIK3C3 5289 broad.mit.edu 37 18 39620662 39620662 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:39620662C>T uc002lap.2 + 19 2118 c.2060C>T c.(2059-2061)TCA>TTA p.S687L PIK3C3_uc010xcl.1_Missense_Mutation_p.S624L|PIK3C3_uc002laq.2_Missense_Mutation_p.S172L|PIK3C3_uc002lar.1_Missense_Mutation_p.S71L NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 687 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TTTATCCAGTCAGTTCCTGTG 0.343 NSCLC(37;552 1060 2683 16430 37914) NA TSP Lung(28;0.18) 9 66 0 0 0.008291 0 0 CDH7 1005 broad.mit.edu 37 18 63525118 63525118 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:63525118C>T uc002ljz.2 + 8 1627 c.1302C>T c.(1300-1302)ATC>ATT p.I434I CDH7_uc002lka.2_Silent_p.I434I|CDH7_uc002lkb.2_Silent_p.I434I NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 434 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GTGGGGTCATCACAACTGCCA 0.388 NA 9 41 0 0 0.008291 0 0 ZNF556 80032 broad.mit.edu 37 19 2876147 2876147 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:2876147G>A uc002lwp.1 + 3 274 c.187G>A c.(187-189)GAA>AAA p.E63K ZNF556_uc002lwq.2_Missense_Mutation_p.E63K NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 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) TACTTCTGGAGAAAAATTATC 0.373 NA 12 169 0 0 0.001368 0 0 STAP2 55620 broad.mit.edu 37 19 4338667 4338667 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:4338667C>T uc002mab.2 - 1 181 c.84G>A c.(82-84)AAG>AAA p.K28K STAP2_uc002mac.2_Silent_p.K28K|STAP2_uc002mad.2_5'UTR NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 28 PH. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGCCCCTTCTTCTCTAGAA 0.652 NA 7 41 0 0 0.001984 0 0 PLIN3 10226 broad.mit.edu 37 19 4847846 4847846 + Nonsense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:4847846G>A uc002mbj.2 - 6 868 c.691C>T c.(691-693)CAG>TAG p.Q231* PLIN3_uc002mbk.2_Nonsense_Mutation_p.Q219*|PLIN3_uc002mbl.3_Nonsense_Mutation_p.Q231* NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 231 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) CTCTGTTCCTGCCGCTGCTGC 0.612 NA 6 25 0 0 0.004482 0 0 C19orf45 374877 broad.mit.edu 37 19 7570435 7570435 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:7570435G>C uc002mgm.2 + 6 1069 c.928G>C c.(928-930)GAG>CAG p.E310Q C19orf45_uc010xjo.1_5'UTR NM_198534 NP_940936 Q8NA69 CS045_HUMAN hypothetical protein LOC374877 310 0 TCAGACTCCGGAGTCGCACAT 0.557 NA 12 68 0 0 0.000978 0 0 OR7G1 125962 broad.mit.edu 37 19 9226191 9226191 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:9226191C>T uc002mks.1 - 1 249 c.249G>A c.(247-249)GTG>GTA p.V83V NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 CTTGGATGTTCACTAGGATCT 0.463 NA 18 160 0 0 0.007413 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221479 10221479 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:10221479G>A uc002mna.2 + 11 1138 c.1138G>A c.(1138-1140)GAT>AAT p.D380N PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.D380N|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.D380N|PPAN_uc002mnb.1_Missense_Mutation_p.D327N NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 380 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGAGGACGATGATGAACAGGA 0.612 NA 34 160 0 0 0.004289 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221527 10221527 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:10221527G>A uc002mna.2 + 11 1186 c.1186G>A c.(1186-1188)GAG>AAG p.E396K PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.E396K|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.E396K|PPAN_uc002mnb.1_Missense_Mutation_p.E343K NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 396 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGCGGTGGGCGAGGCGCCCAG 0.612 NA 35 150 0 0 0.004289 0 0 C19orf57 79173 broad.mit.edu 37 19 14006310 14006310 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:14006310G>A uc002mxl.1 - 3 140 c.81C>T c.(79-81)GAC>GAT p.D27D C19orf57_uc002mxk.1_5'Flank|C19orf57_uc002mxm.1_Silent_p.D27D NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 27 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCCCATAGAAGTCTCCTAGCC 0.552 NA 22 177 0 0 0.002299 0 0 OR7A17 26333 broad.mit.edu 37 19 14992104 14992104 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:14992104C>G uc010xob.1 - 1 64 c.64G>C c.(64-66)GAA>CAA p.E22Q NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GGCTGCAATTCTGGTTCCTCA 0.408 NA 5 29 0 0 0.001168 0 0 APLP1 333 broad.mit.edu 37 19 36362525 36362525 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:36362525C>T uc002oce.2 + 5 687 c.549C>T c.(547-549)TCC>TCT p.S183S APLP1_uc010xsz.1_Silent_p.S144S|APLP1_uc002ocf.2_Silent_p.S183S|APLP1_uc002ocg.2_Silent_p.S86S|APLP1_uc010xta.1_Silent_p.S177S NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 183 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTGCAGCTCCCAGGGCCTCA 0.647 NA 13 63 0 0 0.00245 0 0 AKT2 208 broad.mit.edu 37 19 40745969 40745969 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:40745969T>C uc002onf.2 - 7 884 c.622A>G c.(622-624)AGG>GGG p.R208G AKT2_uc010egs.2_Missense_Mutation_p.R208G|AKT2_uc010egt.2_Missense_Mutation_p.R146G|AKT2_uc010xvj.1_Missense_Mutation_p.R146G|AKT2_uc010egu.1_Missense_Mutation_p.R146G|AKT2_uc010xvk.1_Missense_Mutation_p.R208G|AKT2_uc002one.2_Missense_Mutation_p.R104G NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 208 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) AACGGGTGCCTGGTGTTCTGG 0.602 NA A ovarian|pancreatic 4 236 0 0 0.001168 0 0 IL4I1 259307 broad.mit.edu 37 19 50397678 50397678 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:50397678G>A uc002pqt.1 - 5 492 c.414C>T c.(412-414)TTC>TTT p.F138F IL4I1_uc002pqv.1_Silent_p.F147F|IL4I1_uc010eno.1_Silent_p.F146F|IL4I1_uc002pqw.1_Silent_p.F146F|IL4I1_uc002pqu.1_Silent_p.F160F NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 138 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CGTACTGGGTGAACTTGGTCA 0.627 NA 12 85 0 0 0.001368 0 0 ZNF845 91664 broad.mit.edu 37 19 53855272 53855272 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:53855272C>T uc010ydv.1 + 4 1461 c.1344C>T c.(1342-1344)TTC>TTT p.F448F ZNF845_uc010ydw.1_Silent_p.F448F NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 448 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGAAGCTTTCAGTTTCAAAT 0.403 NA 7 58 0 0 0.001984 0 0 C2orf43 60526 broad.mit.edu 37 2 20939904 20939904 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:20939904C>T uc002rec.2 - 5 563 c.530G>A c.(529-531)AGA>AAA p.R177K C2orf43_uc002rea.1_Missense_Mutation_p.R177K|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_Missense_Mutation_p.R47K|C2orf43_uc010ykc.1_Missense_Mutation_p.R129K|C2orf43_uc010ykd.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.R135K|C2orf43_uc010ykf.1_Missense_Mutation_p.R47K NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 177 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGGCAATTCTGCCATTGGG 0.403 NA 9 54 0 0 0.006214 0 0 ABHD1 84696 broad.mit.edu 37 2 27351351 27351351 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:27351351G>A uc002rit.2 + 2 317 c.157G>A c.(157-159)GAG>AAG p.E53K ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 53 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTTCCTGGAGCCACACTG 0.572 NA 12 106 0 0 0.00245 0 0 NLRC4 58484 broad.mit.edu 37 2 32475393 32475393 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:32475393G>C uc002roi.2 - 4 1786 c.1540C>G c.(1540-1542)CAA>GAA p.Q514E NLRC4_uc002roj.1_Missense_Mutation_p.Q514E|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 514 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGCCGTGTTGATACACTGCT 0.507 NA 8 38 0 0 0.004482 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049530 69049530 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:69049530A>G uc002seu.2 + 10 1620 c.1256A>G c.(1255-1257)GAG>GGG p.E419G ARHGAP25_uc010fdg.2_Missense_Mutation_p.E420G|ARHGAP25_uc010yql.1_Missense_Mutation_p.E380G|ARHGAP25_uc002sew.2_Missense_Mutation_p.E412G|ARHGAP25_uc002sex.2_Missense_Mutation_p.E413G|ARHGAP25_uc002sey.2_Missense_Mutation_p.E146G NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 419 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GCGTTTCCGGAGGACAGCAGC 0.502 NA 4 167 0 0 0.000248 0 0 CCDC138 165055 broad.mit.edu 37 2 109415023 109415023 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:109415023G>A uc002ten.1 + 6 776 c.716G>A c.(715-717)AGA>AAA p.R239K CCDC138_uc002teo.1_Missense_Mutation_p.R239K|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 239 Potential. 0 GTTCTTACAAGATTTCAAATT 0.303 NA 6 58 0 0 0.001984 0 0 DPP10 57628 broad.mit.edu 37 2 116538488 116538488 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:116538488C>T uc002tla.1 + 16 1857 c.1400C>T c.(1399-1401)TCA>TTA p.S467L DPP10_uc002tlb.1_Missense_Mutation_p.S417L|DPP10_uc002tlc.1_Missense_Mutation_p.S463L|DPP10_uc002tle.2_Missense_Mutation_p.S471L|DPP10_uc002tlf.1_Missense_Mutation_p.S460L NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 467 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CAATGCATTTCATGTAATTTC 0.323 NA 10 93 0 0 0.008291 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798460 160798460 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:160798460C>T uc002ube.1 - 30 4428 c.4221G>A c.(4219-4221)CTG>CTA p.L1407L PLA2R1_uc010zcp.1_Silent_p.L1405L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1407 Helical; (Potential). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CAATGACTATCAGTGTCAGTA 0.408 NA 13 80 0 0 0.00245 0 0 SCN3A 6328 broad.mit.edu 37 2 166011088 166011088 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:166011088C>T uc002ucx.2 - 11 1746 c.1254G>A c.(1252-1254)TTG>TTA p.L418L SCN3A_uc002ucy.2_Silent_p.L418L|SCN3A_uc002ucz.2_Silent_p.L418L|SCN3A_uc002uda.1_Silent_p.L287L|SCN3A_uc002udb.1_Silent_p.L287L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 418 Helical; Name=S6 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CAGCCAGGATCAAATTCACCA 0.458 NA 9 70 0 0 0.006214 0 0 LRP2 4036 broad.mit.edu 37 2 170145598 170145598 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:170145598C>G uc002ues.2 - 9 1193 c.980G>C c.(979-981)GGA>GCA p.G327A LRP2_uc010zdf.1_Missense_Mutation_p.G327A NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 327 EGF-like 1.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACGCTCCTCCATACGGCGT 0.483 NA 13 105 0 0 0.001855 0 0 GORASP2 26003 broad.mit.edu 37 2 171818224 171818224 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:171818224C>G uc002ugk.2 + 8 1015 c.875C>G c.(874-876)TCT>TGT p.S292C GORASP2_uc002ugj.2_Missense_Mutation_p.S224C|GORASP2_uc010zdl.1_Missense_Mutation_p.S304C|GORASP2_uc010zdm.1_Missense_Mutation_p.S248C|GORASP2_uc002ugl.2_Missense_Mutation_p.S224C|GORASP2_uc002ugm.2_Missense_Mutation_p.S74C NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 292 Pro-rich. Golgi membrane breast(1)|central_nervous_system(1) 2 TCCCTCACTTCTGTGCCACCA 0.393 NA 14 141 0 0 0.00245 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095793 178095793 + Missense_Mutation SNP T T A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:178095793T>A uc002ulh.3 - 5 2093 c.1538A>T c.(1537-1539)AAT>ATT p.N513I NFE2L2_uc002ulg.3_Missense_Mutation_p.N497I|NFE2L2_uc010zfa.1_Missense_Mutation_p.N490I|NFE2L2_uc002uli.3_Missense_Mutation_p.N497I NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 513 Basic motif. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTTTCTGCAATTCTGAGCAGC 0.343 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 6 74 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179429007 179429007 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179429007G>A uc010zfg.1 - 275 74372 c.74148C>T c.(74146-74148)GTC>GTT p.V24716V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V18411V|TTN_uc010zfi.1_Silent_p.V18344V|TTN_uc010zfj.1_Silent_p.V18219V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25643 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) GAACAACGATGACATCTTTAT 0.408 NA 18 152 0 0 0.00499 0 0 TTN 7273 broad.mit.edu 37 2 179462356 179462356 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179462356C>G uc010zfg.1 - 243 49973 c.49749G>C c.(49747-49749)AAG>AAC p.K16583N uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.K10278N|TTN_uc010zfi.1_Missense_Mutation_p.K10211N|TTN_uc010zfj.1_Missense_Mutation_p.K10086N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17510 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) TCTGGCAGTTCTTGATGACCA 0.438 NA 7 73 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179477958 179477958 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179477958C>G uc010zfg.1 - 213 42098 c.41874G>C c.(41872-41874)TTG>TTC p.L13958F uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L7653F|TTN_uc010zfi.1_Missense_Mutation_p.L7586F|TTN_uc010zfj.1_Missense_Mutation_p.L7461F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14885 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) GATTTTCAGCCAACACACGGA 0.348 NA 4 26 0 0 0.001984 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802056 185802056 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:185802056G>T uc002uph.2 + 4 2527 c.1933G>T c.(1933-1935)GCT>TCT p.A645S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 645 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GCAGTATTTAGCTGCAGAGCA 0.353 NA 14 127 2.32078e-09 3.49707e-09 0.003163 1 0 DNAH7 56171 broad.mit.edu 37 2 196737073 196737073 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:196737073G>A uc002utj.3 - 40 6635 c.6534C>T c.(6532-6534)TTC>TTT p.F2178F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2178 AAA 3 (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 CACGGAGGTTGAACAAGTAGT 0.403 NA 7 79 0 0 0.00308 0 0 HECW2 57520 broad.mit.edu 37 2 197189815 197189815 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:197189815C>G uc002utm.1 - 6 813 c.630G>C c.(628-630)AAG>AAC p.K210N HECW2_uc002utl.1_Intron NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 210 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GAATTGACATCTTAAGATAAG 0.383 NA 22 153 0 0 0.001882 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172245 207172245 + Nonsense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:207172245C>G uc002vbp.2 + 5 3243 c.2993C>G c.(2992-2994)TCA>TGA p.S998* NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 998 nucleic acid binding|zinc ion binding ovary(3) 3 TTCAGTGGTTCAAAAACAAGT 0.373 NA 9 77 0 0 0.004482 0 0 CPS1 1373 broad.mit.edu 37 2 211507249 211507249 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:211507249C>T uc002vee.3 + 25 3133 c.3001C>T c.(3001-3003)CGC>TGC p.R1001C CPS1_uc010fur.2_Missense_Mutation_p.R1007C|CPS1_uc010fus.2_Missense_Mutation_p.R550C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1001 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTCTAGTATCCGCACACTGCG 0.453 NA 9 66 0 0 0.004482 0 0 AAMP 14 broad.mit.edu 37 2 219129318 219129318 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:219129318C>A uc002vhk.2 - 11 1327 c.1243G>T c.(1243-1245)GTG>TTG p.V415L AAMP_uc002vhj.2_Missense_Mutation_p.V396L|AAMP_uc010fvo.2_3'UTR|AAMP_uc002vhl.2_Missense_Mutation_p.V416L NM_001087 NP_001078 Q13685 AAMP_HUMAN angio-associated, migratory cell protein 415 WD 8. angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGTCACCACCAGGGAGGCA 0.582 NA 14 65 9.31168e-06 1.36571e-05 0.001855 1 0 COL6A3 1293 broad.mit.edu 37 2 238262013 238262013 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:238262013C>G uc002vwl.2 - 25 6946 c.6661G>C c.(6661-6663)GAG>CAG p.E2221Q COL6A3_uc002vwo.2_Missense_Mutation_p.E2015Q|COL6A3_uc010znj.1_Missense_Mutation_p.E1614Q|COL6A3_uc002vwp.1_Missense_Mutation_p.E42Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2221 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCTCTCCCTCAAAGCCCGGC 0.483 NA 6 49 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238283578 238283578 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:238283578C>G uc002vwl.2 - 8 3441 c.3156G>C c.(3154-3156)CAG>CAC p.Q1052H COL6A3_uc002vwo.2_Missense_Mutation_p.Q846H|COL6A3_uc010znj.1_Missense_Mutation_p.Q445H|COL6A3_uc002vwq.2_Missense_Mutation_p.Q846H|COL6A3_uc002vwr.2_Missense_Mutation_p.Q645H NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1052 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACCACTCTCTGGACAAACT 0.582 NA 6 82 0 0 0.001168 0 0 KLHL30 377007 broad.mit.edu 37 2 239054455 239054455 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:239054455G>C uc002vxr.1 + 4 1111 c.1078G>C c.(1078-1080)GAG>CAG p.E360Q NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 378 Kelch 3. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCTCAATGGGGAGATCTACGT 0.662 NA 3 22 0 0 0.004672 0 0 SEPT2 4735 broad.mit.edu 37 2 242265435 242265435 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:242265435G>A uc002wbc.2 + 4 458 c.37G>A c.(37-39)GAA>AAA p.E13K SEPT2_uc002wbd.2_Missense_Mutation_p.E13K|SEPT2_uc002wbf.2_Missense_Mutation_p.E13K|SEPT2_uc002wbg.2_Missense_Mutation_p.E13K|SEPT2_uc002wbh.2_Missense_Mutation_p.E13K|SEPT2_uc010zop.1_Missense_Mutation_p.E48K NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 13 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TATAAATCCAGAAACACCTGG 0.348 NA 4 35 0 0 0.000602 0 0 THAP4 51078 broad.mit.edu 37 2 242572898 242572898 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:242572898C>T uc002wbt.2 - 2 897 c.674G>A c.(673-675)GGA>GAA p.G225E NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 225 DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CGCCCCAGATCCTGGGGGCGT 0.557 NA 14 112 0 0 0.00245 0 0 PLCB1 23236 broad.mit.edu 37 20 8639341 8639341 + Silent SNP C C T rs147648227 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:8639341C>T uc002wnb.2 + 9 855 c.852C>T c.(850-852)CTC>CTT p.L284L PLCB1_uc010zrb.1_Silent_p.L183L|PLCB1_uc002wna.2_Silent_p.L284L|PLCB1_uc002wnc.1_Silent_p.L183L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 284 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.L284L(1) ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ACAACAGCCTCGCCAGAAAAG 0.443 NA 6 61 0 0 0.00308 0 0 DSTN 11034 broad.mit.edu 37 20 17581458 17581458 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:17581458G>C uc002wpr.2 + 2 334 c.79G>C c.(79-81)GAA>CAA p.E27Q DSTN_uc002wpq.2_Missense_Mutation_p.E10Q|DSTN_uc010gck.2_Missense_Mutation_p.E10Q NM_006870 NP_006861 P60981 DEST_HUMAN destrin isoform a 27 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding large_intestine(1)|skin(1) 2 CTCCACACCAGAAGAAATCAA 0.383 NA 8 50 0 0 0.00308 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20501653 20501653 + Missense_Mutation SNP T T G rs75943391 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:20501653T>G uc002wrz.2 - 31 4135 c.3992A>C c.(3991-3993)GAC>GCC p.D1331A RALGAPA2_uc010gcx.2_Missense_Mutation_p.D1035A|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D779A|RALGAPA2_uc002wsa.1_Missense_Mutation_p.D103A NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1331 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CAGGAAGGGGTCATAATCCGT 0.493 NA 10 70 0 0 0.002445 0 0 NINL 22981 broad.mit.edu 37 20 25459684 25459684 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:25459684G>A uc002wux.1 - 16 2150 c.2076C>T c.(2074-2076)GGC>GGT p.G692G NINL_uc010gdn.1_Silent_p.G692G|NINL_uc010gdo.1_Silent_p.G475G NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 692 Potential. 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 GCTCCTGCAGGCCCCAGATGA 0.692 NA 7 64 0 0 0.004482 0 0 C20orf132 140699 broad.mit.edu 37 20 35752146 35752146 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:35752146G>A uc010zvu.1 - 17 1963 c.1872C>T c.(1870-1872)TTC>TTT p.F624F C20orf132_uc002xgk.2_Silent_p.F246F NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 Error:Variant_position_missing_in_Q9H579_after_alignment 0 Myeloproliferative disorder(115;0.00878) GAAAGAGTCGGAACGTAGCTG 0.498 NA 8 56 0 0 0.00308 0 0 MATN4 8785 broad.mit.edu 37 20 43926892 43926892 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:43926892G>A uc002xnn.2 - 7 1531 c.1344C>T c.(1342-1344)AAC>AAT p.N448N MATN4_uc002xno.2_Silent_p.N407N|MATN4_uc002xnp.2_Silent_p.N366N|MATN4_uc010zwr.1_Silent_p.N396N|MATN4_uc002xnr.1_Silent_p.N448N NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 489 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CACGAGGCACGTTAAGGGCAC 0.657 NA 5 62 0 0 0.000602 0 0 CDH22 64405 broad.mit.edu 37 20 44869617 44869617 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:44869617C>T uc002xrm.2 - 2 936 c.535G>A c.(535-537)GAG>AAG p.E179K CDH22_uc010ghk.1_Missense_Mutation_p.E179K NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 179 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGTGAGAGCTCGGCCACGCTG 0.622 NA 4 37 0 0 0.000248 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19670055 19670055 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:19670055G>A uc002ykw.2 - 19 2288 c.2257C>T c.(2257-2259)CCC>TCC p.P753S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 753 Extracellular (Potential).|SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 ACCCACCTGGGTGTTAGTATT 0.418 NA 5 40 0 0 0.000602 0 0 CLDN17 26285 broad.mit.edu 37 21 31538736 31538736 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:31538736T>C uc011acv.1 - 1 200 c.200A>G c.(199-201)TAT>TGT p.Y67C NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 67 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 CAAGGAGCTATAGAACTTGCA 0.542 NA 20 88 0 0 0.008871 0 0 CABIN1 23523 broad.mit.edu 37 22 24509680 24509680 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:24509680C>T uc002zzi.1 + 27 4392 c.4265C>T c.(4264-4266)ACG>ATG p.T1422M CABIN1_uc002zzj.1_Missense_Mutation_p.T1343M|CABIN1_uc002zzl.1_Missense_Mutation_p.T1422M NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1422 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCAGGAGCGACGGGTAAAGAT 0.517 NA 5 111 0 0 0.000602 0 0 MORC2 22880 broad.mit.edu 37 22 31328534 31328534 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:31328534G>C uc003aje.1 - 24 3923 c.2559C>G c.(2557-2559)CTC>CTG p.L853L NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 915 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 ACATGTACCGGAGGATCTGGA 0.562 NA 13 61 0 0 0.001368 0 0 CBY1 25776 broad.mit.edu 37 22 39069240 39069240 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:39069240G>A uc003awb.2 + 6 656 c.380G>A c.(379-381)TGA>TAA p.*127* CBY1_uc003awc.2_Silent_p.*127*|uc003awd.2_Intron NM_001002880 NP_001002880 Q9Y3M2 CBY1_HUMAN PKD2 interactor, golgi and endoplasmic reticulum 127 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding ovary(1) 1 Melanoma(58;0.04) AAGAGAAAATGAAGACCCCAG 0.458 NA 8 38 0 0 0.004482 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421648 39421648 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:39421648C>A uc011aoe.1 + 4 631 c.577C>A c.(577-579)CTG>ATG p.L193M APOBEC3D_uc011aod.1_Missense_Mutation_p.L262M|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Missense_Mutation_p.L193M|APOBEC3D_uc010gxu.2_Intron NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 193 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) TTATGCATCCCTGCACCGCAC 0.522 NA 6 212 0.00198382 0.00283403 0.001984 1 0 TNFRSF13C 115650 broad.mit.edu 37 22 42321382 42321382 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:42321382C>T uc003bbl.2 - 3 588 c.544G>A c.(544-546)GAG>AAG p.E182K WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.E183K NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 182 Cytoplasmic (Potential). integral to membrane receptor activity 0 TATTGTTGCTCAGGGCCGGCC 0.637 NA 4 22 0 0 0.000248 0 0 OXTR 5021 broad.mit.edu 37 3 8809434 8809434 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:8809434G>A uc003brc.2 - 3 1062 c.440C>T c.(439-441)TCG>TTG p.S147L NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 147 Cytoplasmic (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GCGGCGCAGCGAGCGCAGCGG 0.692 NA 4 24 0 0 0.000602 0 0 TTLL3 26140 broad.mit.edu 37 3 9870813 9870813 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:9870813G>A uc003btg.2 + 10 1504 c.1288G>A c.(1288-1290)GAT>AAT p.D430N ARPC4_uc003btc.1_Missense_Mutation_p.D74N|TTLL3_uc003btd.3_Missense_Mutation_p.D397N|TTLL3_uc003btf.3_Missense_Mutation_p.D162N|TTLL3_uc010hco.1_Missense_Mutation_p.D366N|TTLL3_uc003bth.3_Missense_Mutation_p.D218N|TTLL3_uc011atj.1_Missense_Mutation_p.D366N|TTLL3_uc003btj.3_Missense_Mutation_p.D218N|TTLL3_uc003bti.3_Missense_Mutation_p.D218N NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 430 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TGGCATGAAGGATGCTGTGAT 0.587 NA 6 34 0 0 0.001168 0 0 SEC13 6396 broad.mit.edu 37 3 10346800 10346800 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:10346800C>G uc003bvn.2 - 7 744 c.625G>C c.(625-627)GAA>CAA p.E209Q SEC13_uc003bvl.2_Missense_Mutation_p.E141Q|SEC13_uc003bvm.2_Missense_Mutation_p.E195Q|SEC13_uc003bvp.2_Missense_Mutation_p.E212Q|SEC13_uc003bvo.2_Missense_Mutation_p.E255Q|SEC13_uc003bvq.1_Missense_Mutation_p.E195Q|SEC13_uc003bvr.1_Missense_Mutation_p.E195Q NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 209 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 CTGTGCGCTTCTAGCTTCTGC 0.642 NA 7 34 0 0 0.001984 0 0 LSM3 27258 broad.mit.edu 37 3 14223145 14223145 + Missense_Mutation SNP A A T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:14223145A>T uc003byn.2 + 2 136 c.107A>T c.(106-108)GAC>GTC p.D36V XPC_uc011ave.1_5'Flank|XPC_uc011avf.1_5'Flank|XPC_uc011avg.1_5'Flank NM_014463 NP_055278 P62310 LSM3_HUMAN Lsm3 protein 36 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay catalytic step 2 spliceosome|cytosol protein binding|RNA binding ovary(1) 1 ATGAGAAATGACCGAGAGCTT 0.368 NA 17 101 0 0 0.004007 0 0 SUSD5 26032 broad.mit.edu 37 3 33194491 33194491 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:33194491C>T uc003cfo.1 - 5 2051 c.1633G>A c.(1633-1635)GAA>AAA p.E545K NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 545 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 CCGGGGCCTTCCTGTCCAAAG 0.582 NA 4 16 0 0 0.000248 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348012 38348012 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:38348012G>C uc010hhc.1 + 2 537 c.495G>C c.(493-495)AAG>AAC p.K165N SLC22A14_uc003cia.2_Missense_Mutation_p.K165N|SLC22A14_uc003cib.2_Missense_Mutation_p.K165N|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 165 Extracellular (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTGACGCTAAGAAGCGATCGC 0.433 NA 16 90 0 0 0.00499 0 0 ZNF167 55888 broad.mit.edu 37 3 44611964 44611964 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:44611964C>G uc010hin.2 + 6 1750 c.1362C>G c.(1360-1362)CTC>CTG p.L454L ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Silent_p.L303L|ZNF167_uc003cnj.2_Silent_p.L454L|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 454 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GCTCCCATCTCATTCAACACC 0.473 Esophageal Squamous(121;907 1626 38429 48584 52774) NA 9 40 0 0 0.008291 0 0 FYCO1 79443 broad.mit.edu 37 3 46008734 46008734 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:46008734T>C uc003cpb.3 - 8 2298 c.2092A>G c.(2092-2094)AAG>GAG p.K698E FYCO1_uc011bal.1_Missense_Mutation_p.K698E NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 698 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) ATGGCCTCCTTCTCTGCCATC 0.622 NA 18 150 0 0 0.001523 0 0 XCR1 2829 broad.mit.edu 37 3 46063107 46063107 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:46063107G>A uc003cpe.2 - 3 557 c.333C>T c.(331-333)ATC>ATT p.I111I uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.I111I NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 111 Helical; Name=3; (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGTAGAGGCTGATGGAGAAGA 0.582 NA 5 12 0 0 0.000602 0 0 EPHA3 2042 broad.mit.edu 37 3 89499479 89499479 + Silent SNP G G C rs145084709 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:89499479G>C uc003dqy.2 + 15 2874 c.2649G>C c.(2647-2649)CGG>CGC p.R883R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 883 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGCTTATCCGGAATCCCGGCA 0.468 NA TSP Lung(6;0.00050) 11 68 0 0 0.001368 0 0 PARP9 83666 broad.mit.edu 37 3 122269548 122269548 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:122269548C>G uc010hri.2 - 6 1459 c.1314G>C c.(1312-1314)AAG>AAC p.K438N PARP9_uc003eff.3_Missense_Mutation_p.K403N|PARP9_uc011bjs.1_Missense_Mutation_p.K403N|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.K403N|PARP9_uc003efh.2_Missense_Mutation_p.K438N|PARP9_uc003efj.2_Missense_Mutation_p.K403N NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 438 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) CTGTTTCCTTCTTTATTTCCA 0.348 NA 4 33 0 0 0.000248 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039405 184039405 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184039405C>T uc003fnp.2 + 10 1231 c.1033C>T c.(1033-1035)CTC>TTC p.L345F EIF4G1_uc003fno.1_Missense_Mutation_p.L286F|EIF4G1_uc010hxw.1_Missense_Mutation_p.L181F|EIF4G1_uc003fnt.2_Missense_Mutation_p.L56F|EIF4G1_uc003fnq.2_Missense_Mutation_p.L258F|EIF4G1_uc003fnr.2_Missense_Mutation_p.L181F|EIF4G1_uc010hxx.2_Missense_Mutation_p.L352F|EIF4G1_uc003fns.2_Missense_Mutation_p.L305F|EIF4G1_uc010hxy.2_Missense_Mutation_p.L352F|EIF4G1_uc003fnv.3_Missense_Mutation_p.L345F|EIF4G1_uc003fnu.3_Missense_Mutation_p.L345F|EIF4G1_uc003fnw.2_Missense_Mutation_p.L352F|EIF4G1_uc003fnx.2_Missense_Mutation_p.L149F|EIF4G1_uc003fny.3_Missense_Mutation_p.L149F NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 345 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCAGTCCTCTCCAGGCTCC 0.527 NA 14 106 0 0 0.00245 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040362 184040362 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184040362C>T uc003fnp.2 + 12 1837 c.1639C>T c.(1639-1641)CAG>TAG p.Q547* EIF4G1_uc003fno.1_Nonsense_Mutation_p.Q488*|EIF4G1_uc010hxw.1_Nonsense_Mutation_p.Q383*|EIF4G1_uc003fnt.2_Nonsense_Mutation_p.Q258*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.Q460*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.Q383*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.Q554*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.Q507*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.Q554*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.Q547*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.Q547*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.Q554*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.Q351*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.Q351* NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 547 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTGGAAAATCAGCCTCCTGC 0.557 NA 4 31 0 0 0.000248 0 0 CLCN2 1181 broad.mit.edu 37 3 184072029 184072029 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184072029C>G uc003foi.2 - 15 1705 c.1581G>C c.(1579-1581)CAG>CAC p.Q527H CLCN2_uc003foh.2_Missense_Mutation_p.Q51H|CLCN2_uc010hya.1_Missense_Mutation_p.Q510H|CLCN2_uc011brl.1_Missense_Mutation_p.Q527H|CLCN2_uc011brm.1_Missense_Mutation_p.Q483H NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 527 chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGTGGGCAATCTGGCCTGTGA 0.602 NA OREG0015949 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 35 0 0 0.00308 0 0 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:192516720G>A uc011bsp.1 - 2 1252 c.931C>T c.(931-933)CAG>TAG p.Q311* NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NA 5 32 0 0 0.001168 0 0 WHSC1 7468 broad.mit.edu 37 4 1962800 1962800 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:1962800C>T uc003gdz.3 + 18 3470 c.3294C>T c.(3292-3294)GAC>GAT p.D1098D WHSC1_uc003geb.3_Silent_p.D1098D|WHSC1_uc003gec.3_Silent_p.D1098D|WHSC1_uc003ged.3_Silent_p.D1098D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.D317D|WHSC1_uc011bvh.1_Silent_p.D159D|WHSC1_uc010icf.2_Silent_p.D446D NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1098 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGCTGATCGACGAGGAGGAGT 0.512 NA T IGH@ MM 19 111 0 0 0.008871 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446410 10446410 + Missense_Mutation SNP C C G rs142752312 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:10446410C>G uc003gmn.2 - 3 2030 c.1543G>C c.(1543-1545)GAA>CAA p.E515Q NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 CTTCCACTTTCAGCAAAACAA 0.408 NA 14 78 0 0 0.00245 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016340 38016340 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:38016340G>A uc003gtb.2 + 3 971 c.628G>A c.(628-630)GAG>AAG p.E210K TBC1D1_uc011byd.1_Missense_Mutation_p.E210K|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.E81K NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 210 nucleus Rab GTPase activator activity ovary(1) 1 CCGGGGGTCCGAGAGCCCCCG 0.711 NA 8 47 0 0 0.00308 0 0 TLR10 81793 broad.mit.edu 37 4 38776315 38776315 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:38776315C>T uc003gti.2 - 2 1276 c.897G>A c.(895-897)ATG>ATA p.M299I TLR10_uc003gtj.2_Missense_Mutation_p.M299I|TLR10_uc003gtk.2_Missense_Mutation_p.M299I NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 299 LRR 7.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 TTATAGTTCTCATTACAGTAT 0.343 NA 5 54 0 0 0.000602 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747895 41747895 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:41747895C>T uc003gwf.3 - 3 1234 c.874G>A c.(874-876)GCC>ACC p.A292T NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 292 A -> G (in Ref. 1; BAA11555, 2; AAD26698 and 3; BAA82670). positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 AGGACGCTGGCGAAGGGACCC 0.562 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 8 69 0 0 0.008291 0 0 ATP10D 57205 broad.mit.edu 37 4 47538713 47538713 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:47538713C>G uc003gxk.1 + 9 1318 c.1154C>G c.(1153-1155)CCT>CGT p.P385R ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 385 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.P385S(1) ovary(2)|pancreas(1) 3 GTCTTGATTCCTATTTCTCTC 0.313 NA 6 65 0 0 0.001168 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957704 73957704 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:73957704G>A uc003hgp.2 - 29 5758 c.5641C>T c.(5641-5643)CTT>TTT p.L1881F ANKRD17_uc003hgo.2_Missense_Mutation_p.L1768F|ANKRD17_uc003hgq.2_Missense_Mutation_p.L1630F|ANKRD17_uc003hgr.2_Missense_Mutation_p.L1880F NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1881 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAATGGAAGAGAAACTGGA 0.483 NA 19 140 0 0 0.007413 0 0 CNOT6L 246175 broad.mit.edu 37 4 78663394 78663394 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:78663394C>A uc011ccd.1 - 8 904 c.773G>T c.(772-774)GGA>GTA p.G258V CNOT6L_uc003hks.2_Missense_Mutation_p.G258V|CNOT6L_uc003hkt.1_Missense_Mutation_p.G101V|CNOT6L_uc011cce.1_Missense_Mutation_p.W205C NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 258 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 TCCATCATATCCACGCTCCTT 0.393 NA 4 23 1.23904e-05 1.81122e-05 0.000602 1 0 ANXA3 306 broad.mit.edu 37 4 79503336 79503336 + Silent SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:79503336G>T uc003hld.2 + 5 514 c.204G>T c.(202-204)CTG>CTT p.L68L ANXA3_uc003hle.2_Silent_p.L29L|ANXA3_uc010ijk.2_Silent_p.L29L NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 68 Annexin 1. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 TTTAGGAGCTGAAAGATGACT 0.393 GBM(2;126 157 27790 28920 42492) NA 9 52 0.00621372 0.00881947 0.006214 1 0 PRKG2 5593 broad.mit.edu 37 4 82031655 82031655 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:82031655G>C uc003hmh.2 - 14 1901 c.1887C>G c.(1885-1887)TTC>TTG p.F629L PRKG2_uc011ccf.1_Missense_Mutation_p.F209L|PRKG2_uc011ccg.1_Missense_Mutation_p.F209L|PRKG2_uc011cch.1_Missense_Mutation_p.F600L NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 629 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 AATCCACACTGAAGTCATGTC 0.438 NA 14 54 0 0 0.001855 0 0 THAP9 79725 broad.mit.edu 37 4 83827511 83827511 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:83827511G>C uc003hnt.2 + 3 430 c.311G>C c.(310-312)AGA>ACA p.R104T THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 104 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) GGTAAAGCAAGACAAAAAATC 0.318 NA 7 115 0 0 0.001984 0 0 WDFY3 23001 broad.mit.edu 37 4 85722828 85722828 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:85722828G>C uc003hpd.2 - 17 3205 c.2797C>G c.(2797-2799)CAG>GAG p.Q933E NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 933 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCAGAGCCTGAGAGGCTAAT 0.483 NA 10 94 0 0 0.001368 0 0 GRID2 2895 broad.mit.edu 37 4 94006245 94006245 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:94006245C>T uc011cdt.1 + 3 602 c.344C>T c.(343-345)CCC>CTC p.P115L GRID2_uc010ikx.2_Missense_Mutation_p.P115L|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 115 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATGCATATCCCCCACCTCTTC 0.562 NA 11 60 0 0 0.008291 0 0 MANBA 4126 broad.mit.edu 37 4 103644166 103644166 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:103644166C>T uc003hwg.2 - 4 511 c.411G>A c.(409-411)GTG>GTA p.V137V MANBA_uc011ces.1_Intron NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 137 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CAATGGAGTTCACGTCCCTGA 0.473 NA 5 49 0 0 0.000602 0 0 LEF1 51176 broad.mit.edu 37 4 109084728 109084728 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:109084728C>T uc003hyt.1 - 3 1065 c.410G>A c.(409-411)AGA>AAA p.R137K LEF1_uc011cfj.1_Missense_Mutation_p.R22K|LEF1_uc011cfk.1_Missense_Mutation_p.R69K|LEF1_uc003hyu.1_Missense_Mutation_p.R137K|LEF1_uc003hyv.1_Missense_Mutation_p.R137K|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 137 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) ACTTACTGTTCTCGGGATGGG 0.383 NA 8 92 0 0 0.004482 0 0 ARSJ 79642 broad.mit.edu 37 4 114899776 114899776 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:114899776G>A uc003ibq.1 - 1 1103 c.215C>T c.(214-216)TCC>TTC p.S72F ARSJ_uc010imu.1_Missense_Mutation_p.S72F|ARSJ_uc010imv.1_5'UTR NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 72 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CTGGGAGGTGGAAGTTGTGCT 0.502 NA 13 62 0 0 0.001855 0 0 PLK4 10733 broad.mit.edu 37 4 128802317 128802317 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:128802317G>C uc003ifo.2 + 1 273 c.28G>C c.(28-30)GAG>CAG p.E10Q PLK4_uc011cgs.1_Missense_Mutation_p.E10Q|PLK4_uc011cgt.1_5'Flank NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 10 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GGAGAAGATCGAGGTGAAAAG 0.607 Colon(135;508 1718 19061 31832 42879) NA 4 41 0 0 0.000248 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504343 151504343 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:151504343C>T uc003ilw.2 + 1 1267 c.162C>T c.(160-162)AGC>AGT p.S54S 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 54 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GCTTCATCAGCTCCTTGAGCG 0.587 NA 6 27 0 0 0.001168 0 0 LRBA 987 broad.mit.edu 37 4 151773315 151773315 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:151773315T>C uc010ipj.2 - 23 4021 c.3547A>G c.(3547-3549)ACA>GCA p.T1183A LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.T1183A NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1183 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CCTGATGCTGTCATAGTCTGA 0.383 NA 14 88 0 0 0.00245 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089171 1089171 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:1089171G>A uc003jbu.2 - 4 481 c.415C>T c.(415-417)CTG>TTG p.L139L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 139 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTCAGGCGCAGGAAGAGGATG 0.647 NA 18 249 0 0 0.008871 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182332 5182332 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:5182332G>T uc003jdl.2 + 4 815 c.677G>T c.(676-678)TGG>TTG p.W226L ADAMTS16_uc003jdk.1_Missense_Mutation_p.W226L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W226L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 226 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCAAGGACATGGGAGCTGGCA 0.577 NA 7 147 2.0095e-06 2.96704e-06 0.001984 1 0 MTRR 4552 broad.mit.edu 37 5 7878244 7878244 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:7878244G>C uc003jed.2 + 5 700 c.670G>C c.(670-672)GAT>CAT p.D224H MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.D197H|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 224 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCTGAGATTCGATGATTCAGG 0.468 NA 13 106 0 0 0.00245 0 0 MTRR 4552 broad.mit.edu 37 5 7878333 7878333 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:7878333C>T uc003jed.2 + 5 789 c.759C>T c.(757-759)TCC>TCT p.S253S MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Silent_p.S226S|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 253 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ACTTTGAGTCCTCACTTACCC 0.443 NA 10 194 0 0 0.006214 0 0 SEMA5A 9037 broad.mit.edu 37 5 9043069 9043069 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:9043069G>C uc003jek.2 - 23 3877 c.3165C>G c.(3163-3165)CTC>CTG p.L1055L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 1055 Cytoplasmic (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TCTTCCCAGTGAGATGTGGGT 0.338 NA 7 47 0 0 0.001984 0 0 FBXL7 23194 broad.mit.edu 37 5 15937263 15937263 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:15937263G>A uc003jfn.1 + 4 1925 c.1444G>A c.(1444-1446)GTC>ATC p.V482I NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 482 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CAAGCGCTGCGTCATCGAGCA 0.542 NA 6 26 0 0 0.001168 0 0 GAPT 202309 broad.mit.edu 37 5 57790482 57790482 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:57790482G>A uc003jro.1 + 3 513 c.119G>A c.(118-120)CGA>CAA p.R40Q NM_152687 NP_689900 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 40 B cell activation integral to membrane|plasma membrane 0 GTTGCCACACGATTTACCTTA 0.433 NA 10 58 0 0 0.008291 0 0 OTP 23440 broad.mit.edu 37 5 76932692 76932692 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:76932692C>G uc003kfg.2 - 2 549 c.401G>C c.(400-402)CGT>CCT p.R134P NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 134 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CAGCTCCTCACGCATAAAGAT 0.612 NA 8 107 0 0 0.00308 0 0 OTP 23440 broad.mit.edu 37 5 76932712 76932712 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:76932712G>C uc003kfg.2 - 2 529 c.381C>G c.(379-381)CAC>CAG p.H127Q NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 127 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) TGTCGGGGTAGTGAGTCTTGG 0.622 NA 15 123 0 0 0.003163 0 0 ACOT12 134526 broad.mit.edu 37 5 80626663 80626663 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:80626663G>A uc003khl.3 - 14 1543 c.1488C>T c.(1486-1488)CTC>CTT p.L496L RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 496 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TAGCATGGATGAGAAATCCGG 0.433 NA 4 39 0 0 0.000248 0 0 TTC37 9652 broad.mit.edu 37 5 94857809 94857809 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:94857809G>C uc003klb.2 - 19 2230 c.1960C>G c.(1960-1962)CAA>GAA p.Q654E TTC37_uc010jbf.1_Missense_Mutation_p.Q606E NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 654 TPR 11. binding ovary(3)|pancreas(1) 4 ATCTGGTATTGAGCTACAGCC 0.358 NA 7 89 0 0 0.004482 0 0 MEGF10 84466 broad.mit.edu 37 5 126792896 126792896 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:126792896G>A uc003kuh.3 + 26 3671 c.3309G>A c.(3307-3309)AAG>AAA p.K1103K MEGF10_uc003kui.3_Silent_p.K1103K NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 1103 Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACCTCCCAAAGAACAGTCACA 0.433 NA 11 110 0 0 0.000978 0 0 KDM3B 51780 broad.mit.edu 37 5 137754766 137754766 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:137754766G>A uc003lcy.1 + 14 3760 c.3560G>A c.(3559-3561)AGA>AAA p.R1187K KDM3B_uc010jew.1_Missense_Mutation_p.R843K|KDM3B_uc011cys.1_Missense_Mutation_p.R219K NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1187 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 ACTGACATCAGATCTGAAGAG 0.537 NA 11 71 0 0 0.008291 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755330 140755330 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:140755330C>T uc003ljy.1 + 1 1680 c.1680C>T c.(1678-1680)CCC>CCT p.P560P 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.P560P NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 560 Extracellular (Potential).|Cadherin 5. 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) ACAATGCGCCCGAGATCCTGT 0.657 NA 29 176 0 0 0.008361 0 0 HTR4 3360 broad.mit.edu 37 5 147830796 147830796 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:147830796C>G uc003lpj.1 - 7 1280 c.1116G>C c.(1114-1116)GAG>GAC p.E372D HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR NM_001040169 NP_001035259 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform a Error:Variant_position_missing_in_Q13639_after_alignment G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGGGCAGTTTCTCGAGTTCCT 0.473 GBM(120;370 1604 14007 17804 41573) NA 36 322 0 0 0.007835 0 0 LCP2 3937 broad.mit.edu 37 5 169683535 169683535 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:169683535G>C uc003man.1 - 17 1352 c.1145C>G c.(1144-1146)TCT>TGT p.S382C LCP2_uc011des.1_Missense_Mutation_p.S177C|LCP2_uc011det.1_Missense_Mutation_p.S211C NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 382 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CAAACCTTGAGAGAAGTATGG 0.453 NA 4 63 0 0 0.000602 0 0 FGFR4 2264 broad.mit.edu 37 5 176520438 176520438 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:176520438C>T uc003mfl.2 + 10 1450 c.1283C>T c.(1282-1284)TCA>TTA p.S428L FGFR4_uc003mfm.2_Missense_Mutation_p.S428L|FGFR4_uc011dfu.1_Nonsense_Mutation_p.Q377*|FGFR4_uc003mfo.2_Missense_Mutation_p.S388L NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 428 Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TCCGGCAAGTCAAGCTCATCC 0.622 NA TSP Lung(9;0.080) 15 124 0 0 0.00245 0 0 OR2V2 285659 broad.mit.edu 37 5 180582116 180582116 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:180582116C>T uc011dhj.1 + 1 174 c.174C>T c.(172-174)ACC>ACT p.T58T NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 58 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTTCACACCCCCATGTACT 0.537 NA 41 167 0 0 0.00874 0 0 CDYL 9425 broad.mit.edu 37 6 4892238 4892238 + Nonsense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:4892238G>T uc003mwi.2 + 4 609 c.478G>T c.(478-480)GAA>TAA p.E160* CDYL_uc003mwj.2_Nonsense_Mutation_p.E106*|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 160 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GAAAGACCACGAATCCAAAAA 0.502 NA 16 95 6.72482e-11 1.03098e-10 0.003163 1 0 ATXN1 6310 broad.mit.edu 37 6 16327156 16327156 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:16327156G>A uc003nbt.2 - 8 2357 c.1386C>T c.(1384-1386)ATC>ATT p.I462I ATXN1_uc010jpi.2_Silent_p.I462I|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 462 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TCAGGTAGCCGATGACAGGGG 0.657 NA 21 154 0 0 0.008871 0 0 PGBD1 84547 broad.mit.edu 37 6 28269471 28269471 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:28269471C>G uc003nky.2 + 7 2210 c.1840C>G c.(1840-1842)CTT>GTT p.L614V PGBD1_uc003nkz.2_Missense_Mutation_p.L614V NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 614 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CGCTGATGTTCTTTTAGAGAG 0.418 NA 15 109 0 0 0.00499 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32632765 32632765 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:32632765G>C uc003obw.2 - 2 271 c.189C>G c.(187-189)ATC>ATG p.I63M HLA-DQB1_uc010juc.1_Missense_Mutation_p.I18M|HLA-DQB1_uc003obv.2_Missense_Mutation_p.I63M|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.I63M|HLA-DQB1_uc011dqe.1_Missense_Mutation_p.I63M NM_002123 NP_002114 P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ 63 Extracellular (Potential).|Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCGGTTATAGATGTATCTGG 0.617 Esophageal Squamous(151;720 1825 15000 40336 43415) NA Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome 19 61 0 0 0.007413 0 0 ITPR3 3710 broad.mit.edu 37 6 33654857 33654857 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:33654857C>G uc011drk.1 + 44 6270 c.6051C>G c.(6049-6051)CTC>CTG p.L2017L ITPR3_uc003oey.2_Silent_p.L104L NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2017 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 AGCGAATCCTCATCAGCCTGC 0.667 NA 15 68 0 0 0.003163 0 0 PTK7 5754 broad.mit.edu 37 6 43109431 43109431 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:43109431G>A uc003oub.1 + 11 1842 c.1644G>A c.(1642-1644)GTG>GTA p.V548V PTK7_uc003ouc.1_Silent_p.V548V|PTK7_uc003oud.1_Silent_p.V508V|PTK7_uc003oue.1_Silent_p.V418V|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.V556V|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 548 Ig-like C2-type 6.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGAGTGGGTGACAGACAACG 0.572 NA 9 135 0 0 0.006214 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123118004 123118004 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:123118004C>T uc003pzg.2 + 3 883 c.362C>T c.(361-363)TCA>TTA p.S121L SMPDL3A_uc003pzh.2_5'UTR NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 121 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) CCTGAACTCTCAACAGACACT 0.393 NA 5 50 0 0 0.001168 0 0 IL20RA 53832 broad.mit.edu 37 6 137322794 137322794 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:137322794G>A uc003qhj.2 - 7 1996 c.1563C>T c.(1561-1563)CTC>CTT p.L521L IL20RA_uc011edl.1_Silent_p.L472L|IL20RA_uc003qhk.2_Silent_p.L410L|IL20RA_uc003qhi.2_Silent_p.L253L NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 521 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GCTCCTCATAGAGTCTAGATA 0.527 NA 11 121 0 0 0.000978 0 0 ARID1B 57492 broad.mit.edu 37 6 157528089 157528090 + Missense_Mutation DNP GG GG TT TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:157528089_157528090GG>TT uc003qqn.2 + 20 5912_5913 c.5760_5761GG>TT c.(5758-5763)CAGGAC>CATTAC p.1920_1921QD>HY ARID1B_uc003qqo.2_Missense_Mutation_p.1880_1881QD>HY|ARID1B_uc003qqp.2_Missense_Mutation_p.1867_1868QD>HY NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1925_1926 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) CGCACTGGCAGGACTCGCTGGC 0.55 NA 16 137 0 0 0.004672 0 0 CCR6 1235 broad.mit.edu 37 6 167550322 167550322 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:167550322C>A uc003qvl.2 + 13 3080 c.604C>A c.(604-606)CAG>AAG p.Q202K CCR6_uc010kkm.2_Missense_Mutation_p.Q202K|CCR6_uc003qvn.3_Missense_Mutation_p.Q202K|CCR6_uc003qvm.3_Missense_Mutation_p.Q202K NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 202 Extracellular (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) ACCCAAGTACCAGACTGTCTC 0.468 NA 8 69 0.00448238 0.00638268 0.004482 1 0 GPR31 2853 broad.mit.edu 37 6 167570790 167570790 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:167570790C>G uc011egq.1 - 1 530 c.530G>C c.(529-531)TGG>TCG p.W177S NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 177 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) TGCTTCCTGCCAGATGATGCT 0.592 NA 17 149 0 0 0.004007 0 0 CARD11 84433 broad.mit.edu 37 7 2953041 2953041 + Missense_Mutation SNP G G A rs149857605 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:2953041G>A uc003smv.2 - 22 3303 c.2899C>T c.(2899-2901)CGC>TGC p.R967C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 967 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TAGAAGGCGCGTACCAGGCTG 0.677 NA Mis DLBCL 6 67 0 0 0.001984 0 0 PMS2 5395 broad.mit.edu 37 7 6043687 6043687 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:6043687G>C uc003spl.2 - 3 253 c.166C>G c.(166-168)CTA>GTA p.L56V PMS2_uc003spj.2_Translation_Start_Site|PMS2_uc003spk.2_Translation_Start_Site|PMS2_uc011jwl.1_Translation_Start_Site|PMS2_uc010ktg.2_Translation_Start_Site|PMS2_uc010kte.2_Missense_Mutation_p.L56V|PMS2_uc010ktf.1_Missense_Mutation_p.L56V NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 56 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTAAGCTTTAGATCTAGAAAG 0.294 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 11 60 0 0 0.000978 0 0 AHR 196 broad.mit.edu 37 7 17367416 17367416 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:17367416G>A uc011jxz.1 + 4 1007 c.394G>A c.(394-396)GAT>AAT p.D132N AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 132 PAS 1. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TGTCACTACAGATGCTTTGGT 0.269 NA 10 108 0 0 0.000978 0 0 CLK2P 1197 broad.mit.edu 37 7 23625387 23625387 + Missense_Mutation SNP T T A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:23625387T>A uc003swk.2 - 1 760 c.110A>T c.(109-111)CAC>CTC p.H37L NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 GTGCACTTGGTGGATGGGGTA 0.507 NA 14 61 0 0 0.001855 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142970 31142970 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:31142970G>T uc003tca.1 + 14 1389 c.1166G>T c.(1165-1167)GGC>GTC p.G389V ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.G368V|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.G417V|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.G417V|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.G416V|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.G147V 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 CTGGGGCTGGGCTCCTTCCAG 0.547 Ovarian(44;225 1186 2158 11092) NA 12 61 1.08611e-07 1.62547e-07 0.000978 1 0 ZNF107 51427 broad.mit.edu 37 7 64168600 64168600 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:64168600G>A uc003ttd.2 + 7 2704 c.1918G>A c.(1918-1920)GAA>AAA p.E640K ZNF107_uc003tte.2_Missense_Mutation_p.E640K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 640 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCAATGTGCAGAATGTGGCAA 0.373 NA 5 48 0 0 0.001168 0 0 FKBP6 8468 broad.mit.edu 37 7 72744349 72744349 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:72744349C>T uc003tya.2 + 4 594 c.462C>T c.(460-462)CTC>CTT p.L154L FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.L149L|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 154 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) TTTGTGCTCTCTCAGCTGTAA 0.498 NA 10 75 0 0 0.006214 0 0 HIP1 3092 broad.mit.edu 37 7 75228554 75228554 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:75228554G>C uc003uds.1 - 2 173 c.132C>G c.(130-132)ATC>ATG p.I44M NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 44 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TGGCCTTATTGATGCTGACAG 0.507 NA T PDGFRB CMML 17 168 0 0 0.002299 0 0 HGF 3082 broad.mit.edu 37 7 81335005 81335005 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:81335005C>T uc003uhl.2 - 16 1987 c.1822G>A c.(1822-1824)GAA>AAA p.E608K HGF_uc003uhm.2_Missense_Mutation_p.E603K NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 608 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CTGGTCTTTTCAGGAATTGTG 0.358 NA 4 35 0 0 0.000602 0 0 ZNF498 221785 broad.mit.edu 37 7 99217442 99217442 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:99217442G>A uc003url.1 + 4 540 c.213G>A c.(211-213)CTG>CTA p.L71L ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Silent_p.L71L|ZNF498_uc003uro.1_5'Flank NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 71 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GTCGGTGGCTGAGGCCCGAGT 0.622 NA 16 90 0 0 0.00499 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155227 108155227 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:108155227C>T uc003vff.1 - 4 1116 c.709G>A c.(709-711)GAA>AAA p.E237K PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E237K|PNPLA8_uc003vfi.1_Missense_Mutation_p.E137K|PNPLA8_uc003vfj.1_Missense_Mutation_p.E237K|PNPLA8_uc003vfk.1_Missense_Mutation_p.E137K NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 237 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 TTTTTATCTTCAAGTTCTGAT 0.363 NA 5 34 0 0 0.001168 0 0 TMEM209 84928 broad.mit.edu 37 7 129843654 129843654 + Missense_Mutation SNP A A C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:129843654A>C uc003vpn.2 - 3 296 c.173T>G c.(172-174)GTG>GGG p.V58G TMEM209_uc010lmc.1_Missense_Mutation_p.V58G|TMEM209_uc003vpo.2_Missense_Mutation_p.V58G NM_032842 NP_116231 Q96SK2 TM209_HUMAN transmembrane protein 209 58 integral to membrane ovary(2)|large_intestine(1) 3 Melanoma(18;0.0435) CCAGTATGTCACATTGTAGTA 0.313 NA 3 11 0 0 0.000248 0 0 DENND2A 27147 broad.mit.edu 37 7 140221722 140221722 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:140221722G>A uc010lnj.2 - 16 2989 c.2844C>T c.(2842-2844)GTC>GTT p.V948V DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.V948V|DENND2A_uc003vvw.2_Silent_p.V948V NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 948 dDENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCTCCATGAAGACCTCCAGGA 0.617 NA 4 47 0 0 0.000248 0 0 CLCN1 1180 broad.mit.edu 37 7 143047716 143047716 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:143047716G>T uc003wcr.1 + 22 2651 c.2564G>T c.(2563-2565)GGG>GTG p.G855V CLCN1_uc011ktc.1_Missense_Mutation_p.G467V NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 855 CBS 2.|Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) ACCAGCATGGGGAAGCTCAGG 0.582 NA 19 173 2.37509e-13 3.66681e-13 0.001523 1 0 OR2A25 392138 broad.mit.edu 37 7 143771395 143771395 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:143771395G>A uc011ktx.1 + 1 83 c.83G>A c.(82-84)GGG>GAG p.G28E NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CTCCTCTTTGGGCTCTTCTCC 0.507 NA 11 91 0 0 0.008291 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144070344 144070344 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:144070344C>T uc003wel.2 + 10 4225 c.4107C>T c.(4105-4107)ATC>ATT p.I1369I ARHGEF5_uc003wek.2_Silent_p.I1369I|ARHGEF5_uc003wem.2_Silent_p.I224I NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1369 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) AGGAACTAATCTACCTGAGCC 0.532 NA 13 198 0 0 0.00245 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905296 1905296 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:1905296C>A uc003wpr.2 + 29 4080 c.3902C>A c.(3901-3903)GCC>GAC p.A1301D ARHGEF10_uc003wps.2_Missense_Mutation_p.A1263D|ARHGEF10_uc010lre.2_Missense_Mutation_p.A952D NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 1326 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GCCAAGAAAGCCAAGGCCAGC 0.647 NA 5 49 0.00198382 0.00283403 0.001984 1 0 CSMD1 64478 broad.mit.edu 37 8 2965255 2965255 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:2965255C>T uc011kwk.1 - 45 7213 c.6823G>A c.(6823-6825)GAT>AAT p.D2275N CSMD1_uc011kwj.1_Missense_Mutation_p.D1667N|CSMD1_uc010lrg.2_Missense_Mutation_p.D343N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2275 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCGAAATCATCATCCTCAGTA 0.358 NA 8 89 0 0 0.001368 0 0 CSMD1 64478 broad.mit.edu 37 8 2965273 2965273 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:2965273C>G uc011kwk.1 - 45 7195 c.6805G>C c.(6805-6807)GAA>CAA p.E2269Q CSMD1_uc011kwj.1_Missense_Mutation_p.E1661Q|CSMD1_uc010lrg.2_Missense_Mutation_p.E337Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2269 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAAGCATTTCTGCCTGTGGA 0.353 NA 11 100 0 0 0.007413 0 0 SOX7 83595 broad.mit.edu 37 8 10583724 10583724 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:10583724G>A uc003wtf.2 - 2 770 c.691C>T c.(691-693)CCC>TCC p.P231S SOX7_uc011kwz.1_Missense_Mutation_p.P283S NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 231 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) ATGCGGCGGGGATGGCCATGC 0.687 NA 9 41 0 0 0.000978 0 0 FGL1 2267 broad.mit.edu 37 8 17739550 17739550 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:17739550C>T uc003wxx.2 - 4 526 c.202G>A c.(202-204)GAG>AAG p.E68K FGL1_uc003wxy.2_Missense_Mutation_p.E68K|FGL1_uc003wxz.2_Missense_Mutation_p.E68K|FGL1_uc003wya.2_Missense_Mutation_p.E68K|FGL1_uc003wyb.2_Missense_Mutation_p.E68K|FGL1_uc003wyc.2_Missense_Mutation_p.E68K|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.E118K|FGL1_uc003wyf.2_Missense_Mutation_p.E38K NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 68 signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) ACAGTATTCTCATCTCCTTTA 0.448 NA 9 56 0 0 0.008291 0 0 TMEM67 91147 broad.mit.edu 37 8 94767363 94767363 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:94767363G>A uc011lgk.1 + 1 292 c.221G>A c.(220-222)CGA>CAA p.R74Q TMEM67_uc010mau.2_Missense_Mutation_p.R74Q|TMEM67_uc010mav.2_Missense_Mutation_p.R74Q|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.R74Q|TMEM67_uc003yga.3_5'UTR NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 74 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) CAAGATGCCCGAGGTAAGACG 0.488 NA 5 121 0 0 0.001168 0 0 ABRA 137735 broad.mit.edu 37 8 107773358 107773358 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:107773358G>C uc003ymm.3 - 2 1107 c.1053C>G c.(1051-1053)CTC>CTG p.L351L NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 351 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TGGCACGCATGAGAATGCCCA 0.468 NA 4 184 0 0 0.000248 0 0 RSPO2 340419 broad.mit.edu 37 8 109001387 109001387 + Missense_Mutation SNP G G C rs149399382 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:109001387G>C uc003yms.2 - 3 838 c.180C>G c.(178-180)TTC>TTG p.F60L RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 60 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GAAGGAAGAAGAACAACTTCT 0.463 NA 6 54 0 0 0.001168 0 0 TRHR 7201 broad.mit.edu 37 8 110131366 110131366 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:110131366C>T uc003ymz.3 + 2 895 c.879C>T c.(877-879)TCC>TCT p.S293S NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 293 Extracellular (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CATTTCTCTCCAGTCCTTTCC 0.423 NA 24 247 0 0 0.003954 0 0 ADCY8 114 broad.mit.edu 37 8 132052045 132052045 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:132052045G>A uc003ytd.3 - 1 791 c.535C>T c.(535-537)CGC>TGC p.R179C ADCY8_uc010mds.2_Missense_Mutation_p.R179C NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 179 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 integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCGATTTGCGCCTTTGGCCC 0.567 NA HNSCC(32;0.087) 14 62 0 0 0.004007 0 0 TLN1 7094 broad.mit.edu 37 9 35706061 35706061 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:35706061C>T uc003zxt.2 - 41 5763 c.5409G>A c.(5407-5409)ATG>ATA p.M1803I NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1803 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGCCTCGGTCATCATCTGCA 0.607 NA 16 103 0 0 0.004007 0 0 GCNT1 2650 broad.mit.edu 37 9 79118113 79118113 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:79118113C>G uc010mpf.2 + 3 1157 c.816C>G c.(814-816)GTC>GTG p.V272V GCNT1_uc010mpg.2_Silent_p.V272V|GCNT1_uc010mph.2_Silent_p.V272V|GCNT1_uc004akf.3_Silent_p.V272V|GCNT1_uc010mpi.2_Silent_p.V272V|GCNT1_uc004akh.3_Silent_p.V272V NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 272 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 CAGGGACTGTCAAAATGCTTC 0.458 NA 9 91 0 0 0.008291 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608772 84608772 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:84608772G>C uc004amn.2 + 4 3434 c.3387G>C c.(3385-3387)AAG>AAC p.K1129N NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1129 integral to membrane 0 CATGGGATAAGAGAAAGAGTT 0.468 NA 7 62 0 0 0.00308 0 0 HNRNPK 3190 broad.mit.edu 37 9 86587088 86587088 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:86587088C>T uc004ang.3 - 11 886 c.662G>A c.(661-663)CGT>CAT p.R221H HNRNPK_uc011lsw.1_Translation_Start_Site|HNRNPK_uc004and.3_Translation_Start_Site|HNRNPK_uc004ank.3_Missense_Mutation_p.R221H|HNRNPK_uc004anf.3_Missense_Mutation_p.R221H|HNRNPK_uc004anh.3_Missense_Mutation_p.R197H|HNRNPK_uc011lsx.1_Missense_Mutation_p.R197H|HNRNPK_uc004ani.3_Missense_Mutation_p.R221H|HNRNPK_uc004anj.3_Missense_Mutation_p.R221H|HNRNPK_uc004ann.3_Missense_Mutation_p.R197H|HNRNPK_uc004anl.3_Missense_Mutation_p.R221H|HNRNPK_uc004anm.3_Missense_Mutation_p.R221H|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 221 5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|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|single-stranded DNA binding skin(1) 1 AGGCTGTGCACGTCCTTTGAT 0.418 NA 6 41 0 0 0.001984 0 0 ASPN 54829 broad.mit.edu 37 9 95222019 95222019 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:95222019G>A uc004ase.1 - 7 1084 c.840C>T c.(838-840)ATC>ATT p.I280I CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Intron NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 280 LRR 7. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 TCCCATTTTCGATATCTGTGA 0.323 NA 4 20 0 0 0.000248 0 0 TDRD7 23424 broad.mit.edu 37 9 100245169 100245169 + Silent SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:100245169T>C uc004axj.2 + 15 2676 c.2451T>C c.(2449-2451)GTT>GTC p.V817V TDRD7_uc011lux.1_Silent_p.V743V|TDRD7_uc010msp.1_Silent_p.V69V|TDRD7_uc011luy.1_Silent_p.V137V NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 817 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) TCGCACATGTTTATTTATTTA 0.368 NA 15 69 0 0 0.003163 0 0 RC3H2 54542 broad.mit.edu 37 9 125642152 125642152 + Missense_Mutation SNP T T G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:125642152T>G uc010mwc.1 - 8 1335 c.1094A>C c.(1093-1095)GAC>GCC p.D365A RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.D365A|RC3H2_uc004bne.3_Missense_Mutation_p.D365A|RC3H2_uc011lzf.1_Missense_Mutation_p.D102A|RC3H2_uc011lzg.1_Missense_Mutation_p.D365A NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 365 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 TGAAACAGCGTCTAAAATAAG 0.398 NA 4 41 0 0 0.000248 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070915 141070915 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:141070915C>G uc004com.2 + 4 579 c.318C>G c.(316-318)ACC>ACG p.T106T TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGTCAGACACCGTGGTGGAGC 0.522 NA 5 84 0 0 0.001168 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071097 141071097 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:141071097G>A uc004com.2 + 4 761 c.500G>A c.(499-501)TGC>TAC p.C167Y TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GTCACCACGTGCCTGCGCTTC 0.577 NA 6 45 0 0 0.001984 0 0 TLR7 51284 broad.mit.edu 37 X 12904782 12904782 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:12904782G>C uc004cvc.2 + 3 1294 c.1155G>C c.(1153-1155)TTG>TTC p.L385F NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 385 Extracellular (Potential).|LRR 13. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TTAAAGAGTTGAAAAGCTTTA 0.348 NA 9 128 0 0 0.008291 0 0 TRO 7216 broad.mit.edu 37 X 54955044 54955044 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:54955044G>A uc004dtq.2 + 12 1994 c.1887G>A c.(1885-1887)AAG>AAA p.K629K TRO_uc004dts.2_Silent_p.K629K|TRO_uc004dtr.2_Silent_p.K629K|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Silent_p.K232K|TRO_uc011mok.1_Silent_p.K160K|TRO_uc004dtw.2_Silent_p.K232K|TRO_uc004dtx.2_Silent_p.K12K NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 629 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 AGGTGCAGAAGAAAGACCCCA 0.333 NA 9 102 0 0 0.004482 0 0 EFNB1 1947 broad.mit.edu 37 X 68060218 68060218 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:68060218C>T uc004dxd.3 + 5 1542 c.762C>T c.(760-762)ATC>ATT p.I254I EFNB1_uc004dxe.2_Silent_p.I254I NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 254 Helical; (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 TCCTGCTCATCATCATCTTCC 0.617 NA 7 33 0 0 0.001984 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871496 100871496 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:100871496C>G uc004ehx.2 - 3 460 c.115G>C c.(115-117)GAG>CAG p.E39Q ARMCX6_uc004ehy.2_Missense_Mutation_p.E39Q NM_019007 NP_061880 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 39 integral to membrane 0 tccccctcctcctccagcttc 0.348 NA 6 37 0 0 0.001984 0 0 GPR112 139378 broad.mit.edu 37 X 135405147 135405147 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:135405147G>A uc004ezu.1 + 5 572 c.281G>A c.(280-282)GGA>GAA p.G94E GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 94 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GGACTTGCAGGAGACCATCAG 0.433 NA 20 132 0 0 0.001523 0 0 VMA21 203547 broad.mit.edu 37 X 150572114 150572114 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:150572114C>T uc004feu.2 + 2 141 c.65C>T c.(64-66)TCA>TTA p.S22L NM_001017980 NP_001017980 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog 22 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome 0 AATGAAAGCTCATTAGCATCT 0.353 NA 23 179 0 0 0.00278 0 0 PAQR6 79957 broad.mit.edu 37 1 156214968 156214969 + Frame_Shift_Ins INS - - ATAGGCT TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:156214968_156214969insATAGGCT uc001fnu.1 - 6 643_644 c.573_574insAGCCTAT c.(571-576)TATCCAfs p.Y191fs PAQR6_uc010phf.1_Frame_Shift_Ins_p.I58fs|PAQR6_uc001fny.1_5'UTR|PAQR6_uc001fnv.1_Frame_Shift_Ins_p.Y167fs|PAQR6_uc010phg.1_Frame_Shift_Ins_p.Y188fs|PAQR6_uc001fnx.1_Frame_Shift_Ins_p.Y85fs|PAQR6_uc001fnw.1_Frame_Shift_Ins_p.Y85fs|PAQR6_uc001fnz.1_Frame_Shift_Ins_p.Y85fs|PAQR6_uc010phh.1_Frame_Shift_Ins_p.Y191fs|PAQR6_uc001foa.1_Frame_Shift_Ins_p.Y85fs|PAQR6_uc001fob.1_RNA NM_198406 NP_940798 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 191_192 Cytoplasmic (Potential). integral to membrane receptor activity 0 Hepatocellular(266;0.158) AACAGGAATGGATAGGCGAAGG 0.604 GBM(16;219 398 12385 32425 38531) NA 9 103 --- --- --- --- NA NA NA NA NA KNDC1 85442 broad.mit.edu 37 10 135009286 135009286 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:135009286delC uc001llz.1 + 10 1696 c.1695delC c.(1693-1695)CGCfs p.R565fs KNDC1_uc001lma.1_Frame_Shift_Del_p.R500fs|KNDC1_uc001lmb.1_5'Flank NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 565 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGGCCAGGCGCAGTGCCCCGG 0.692 NA 3 5 --- --- --- --- NA NA NA NA NA KCNQ1 3784 broad.mit.edu 37 11 2869199 2869199 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:2869199delC uc001lwn.2 + 16 2105 c.1997delC c.(1996-1998)ACCfs p.T666fs KCNQ1_uc001lwo.2_Frame_Shift_Del_p.T539fs NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 666 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GAGCAGCTGACCGTGCCCAGG 0.716 NA 2 4 --- --- --- --- NA NA NA NA NA VPS33A 65082 broad.mit.edu 37 12 122729162 122729162 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:122729162delC uc001ucd.2 - 7 1036 c.923delG c.(922-924)GGCfs p.G308fs VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 308 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GAGCACAGAGCCAACTGCGTT 0.507 NA 16 69 --- --- --- --- NA NA NA NA NA GRIN2A 2903 broad.mit.edu 37 16 10274229 10274229 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:10274229delC uc002czo.3 - 2 588 c.40delG c.(40-42)GCCfs p.A14fs GRIN2A_uc010uym.1_Frame_Shift_Del_p.A14fs|GRIN2A_uc002czr.3_Frame_Shift_Del_p.A14fs|GRIN2A_uc010buk.2_Frame_Shift_Del_p.A14fs NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 14 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACCAGAAGGGCCGGCAGCACC 0.677 NA 7 35 --- --- --- --- NA NA NA NA NA ANKFN1 162282 broad.mit.edu 37 17 54452001 54452002 + In_Frame_Ins INS - - CAG TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:54452001_54452002insCAG uc002iun.1 + 7 880_881 c.845_846insCAG c.(844-846)ACC>ACCAGC p.284_285insS NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 284_285 Fibronectin type-III. large_intestine(1)|ovary(1) 2 CTCATGGTAACCAGCAGCACAT 0.46 NA 42 231 --- --- --- --- NA NA NA NA NA CPXM1 56265 broad.mit.edu 37 20 2779492 2779492 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:2779492delC uc002wgu.2 - 2 284 c.220delG c.(220-222)GTCfs p.V74fs CPXM1_uc010gas.2_Frame_Shift_Del_p.V74fs NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 74 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 TTCATAATGACCTTTTTCTTC 0.577 NA 28 121 --- --- --- --- NA NA NA NA NA MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 CTC CTC - - CTC CTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:36696948_36696950delCTC uc003apg.2 - 22 3016_3018 c.2785_2787delGAG c.(2785-2787)GAGdel p.E929del MYH9_uc003aph.1_In_Frame_Del_p.E793del NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 929 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GCTGGCAGCGCTCCTCCTCCTCC 0.665 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 7 139 --- --- --- --- NA NA NA NA NA KIAA0947 23379 broad.mit.edu 37 5 5461386 5461388 + In_Frame_Del DEL TCT TCT - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 TCT TCT - - TCT TCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:5461386_5461388delTCT uc003jdm.3 + 13 2161_2163 c.1939_1941delTCT c.(1939-1941)TCTdel p.S649del NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 649 ovary(1)|central_nervous_system(1) 2 TAATCCCCAGTCTTCTTCTGGGT 0.389 NA 9 205 --- --- --- --- NA NA NA NA NA EXOC2 55770 broad.mit.edu 37 6 637794 637794 + Frame_Shift_Del DEL G G - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:637794delG uc003mtd.2 - 2 159 c.25delC c.(25-27)CTTfs p.L9fs EXOC2_uc003mte.2_Frame_Shift_Del_p.L9fs|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 9 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CCGGTCACAAGGGGGGGTTGT 0.483 NA 25 209 --- --- --- --- NA NA NA NA NA INHBA 3624 broad.mit.edu 37 7 41729440 41729440 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:41729440delC uc003thq.2 - 2 1324 c.1089delG c.(1087-1089)GGGfs p.G363fs INHBA_uc003thr.2_Frame_Shift_Del_p.G363fs NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 363 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 ACAGTGAGGACCCGGACGTGC 0.567 NA TSP Lung(11;0.080) 13 92 --- --- --- --- NA NA NA NA NA MET 4233 broad.mit.edu 37 7 116412042 116412047 + Splice_Site DEL AGGTAT AGGTAT - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 AGGTAT AGGTAT - - AGGTAT AGGTAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:116412042_116412047delAGGTAT uc003vij.2 + 14 3215 c.3028_splice c.e14+1 p.D1010_splice MET_uc010lkh.2_Splice_Site_p.D1028_splice|MET_uc011knj.1_Splice_Site_p.D580_splice NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.982_1028del47(4)|p.L982_D1028del(3)|p.?(3)|p.D981_D1028del(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTTTTCCAGAAGGTATATTTCAGTTT 0.35 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 7 49 --- --- --- --- NA NA NA NA NA