Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CATSPER4 378807 broad.mit.edu 37 1 26527434 26527434 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:26527434G>A uc010oez.1 + 8 1101 c.1101G>A c.(1099-1101)TCG>TCA p.S367S CATSPER4_uc010oey.1_Silent_p.S189S|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 367 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCCTGTCGAACCTCTCAG 0.542 NA 7 53 0 0 0 0 DEPDC1 55635 broad.mit.edu 37 1 68947189 68947189 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:68947189C>T uc001dem.3 - 9 1986 c.1869G>A c.(1867-1869)ATG>ATA p.M623I DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.M339I NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 623 Interaction with ZNF224. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TTCGGGAAATCATACGCATTA 0.393 NA 3 26 0 0 0 0 ZZZ3 26009 broad.mit.edu 37 1 78099026 78099026 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:78099026C>T uc001dhq.2 - 5 490 c.14G>A c.(13-15)CGA>CAA p.R5Q ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R5Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R5Q NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 ACGAGTAGATCGGGAAGCAGC 0.403 NA 9 42 0 0 0 0 TMED5 50999 broad.mit.edu 37 1 93621908 93621908 + Missense_Mutation SNP C C A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:93621908C>A uc001dpn.2 - 3 867 c.420G>T c.(418-420)AAG>AAT p.K140N TMED5_uc001dpo.2_Missense_Mutation_p.K140N|TMED5_uc001dpp.2_RNA NM_016040 NP_057124 Q9Y3A6 TMED5_HUMAN transmembrane emp24 protein transport domain 140 Lumenal (Potential). transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane ovary(1) 1 all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188) all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797) TAATATATTTCTTCCAATCTT 0.328 NA 12 77 2.27e-07 2.44e-07 1 0 GSTM4 2948 broad.mit.edu 37 1 110199342 110199342 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:110199342C>T uc001dyf.2 + 2 359 c.45C>T c.(43-45)CAC>CAT p.H15H GSTM4_uc009wfi.2_Silent_p.H15H|GSTM4_uc001dyg.2_Translation_Start_Site|GSTM4_uc009wfj.2_Silent_p.H15H|GSTM4_uc001dyh.2_Silent_p.H15H|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 15 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) AGCTGGCCCACGCCATCCGCC 0.582 NA 23 127 0 0 0 0 CD160 11126 broad.mit.edu 37 1 145704173 145704173 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:145704173C>T uc001eol.1 - 4 462 c.244G>A c.(244-246)GAT>AAT p.D82N NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron NM_007053 NP_008984 O95971 BY55_HUMAN CD160 antigen precursor 82 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ATCCCAGGATCCCTTTTAAGT 0.463 NA 15 90 0 0 0 0 CD160 11126 broad.mit.edu 37 1 145704204 145704204 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:145704204C>G uc001eol.1 - 4 431 c.213G>C c.(211-213)GAG>GAC p.E71D NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron NM_007053 NP_008984 O95971 BY55_HUMAN CD160 antigen precursor 71 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TTAAACTGGTCTCAGGAGAAC 0.438 NA 10 78 0 0 0 0 MRPL9 65005 broad.mit.edu 37 1 151732587 151732587 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:151732587T>C uc001eyv.2 - 7 828 c.743A>G c.(742-744)TAT>TGT p.Y248C MRPL9_uc009wmz.2_RNA NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 248 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGTACTTATATCTTTTGGT 0.498 NA 6 50 0 0 0 0 TDRD10 126668 broad.mit.edu 37 1 154492809 154492809 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:154492809C>T uc009wow.2 + 5 1009 c.171C>T c.(169-171)TTC>TTT p.F57F TDRD10_uc001ffd.2_Silent_p.F57F|TDRD10_uc001ffe.2_5'Flank NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 57 RRM. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TAAAGGACTTCAACCCTCTTG 0.423 NA 6 54 0 0 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167904 161167904 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:161167904A>G uc001fyt.3 - 1 942 c.514T>C c.(514-516)TCT>CCT p.S172P ADAMTS4_uc001fyu.2_Missense_Mutation_p.S172P|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 172 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCCCCAGCAGAGTTAGGGGTG 0.637 NA 8 56 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738784 176738784 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:176738784G>C uc001gkz.2 + 16 5529 c.4365G>C c.(4363-4365)CAG>CAC p.Q1455H PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1455 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACTGGGACCAGAATGTGAGCT 0.468 NA 16 57 0 0 0 0 DDX59 83479 broad.mit.edu 37 1 200635068 200635068 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:200635068G>A uc009wzk.2 - 2 1044 c.801C>T c.(799-801)TTC>TTT p.F267F DDX59_uc010ppl.1_Silent_p.F267F NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 267 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 CACTTACCTCGAATAAAGCTC 0.368 NA 6 46 0 0 0 0 C1orf186 440712 broad.mit.edu 37 1 206243180 206243180 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:206243180C>T uc001hdt.1 - 3 721 c.82G>A c.(82-84)GCC>ACC p.A28T NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN hypothetical protein LOC440712 28 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.0754) TAGTTGATGGCGGTGAGGAAG 0.517 NA 13 53 0 0 0 0 PLXNA2 5362 broad.mit.edu 37 1 208205080 208205080 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:208205080C>T uc001hgz.2 - 29 5838 c.5080G>A c.(5080-5082)GAC>AAC p.D1694N PLXNA2_uc001hgy.2_5'Flank NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1694 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TCAAACAAGTCGTCCACAAAC 0.577 NA 11 49 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215901489 215901489 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:215901489C>T uc001hku.1 - 61 12336 c.11949G>A c.(11947-11949)TTG>TTA p.L3983L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3983 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGTCCAATTCAACAGAACTG 0.498 NA HNSCC(13;0.011) 14 91 0 0 0 0 ARID4B 51742 broad.mit.edu 37 1 235345577 235345577 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:235345577C>G uc001hwq.2 - 20 3155 c.2657G>C c.(2656-2658)AGA>ACA p.R886T ARID4B_uc001hwr.2_Missense_Mutation_p.R800T|ARID4B_uc001hws.3_Missense_Mutation_p.R800T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.R567T NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 886 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TAGAGATTTTCTTTTTTCCTC 0.348 NA 20 92 0 0 0 0 HEATR1 55127 broad.mit.edu 37 1 236722359 236722359 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr1:236722359C>T uc001hyd.1 - 35 4972 c.4847G>A c.(4846-4848)CGC>CAC p.R1616H HEATR1_uc009xgh.1_Missense_Mutation_p.R778H NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1616 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CGCTTTGCGGCGAACAGATGG 0.458 NA 14 55 0 0 0 0 C10orf18 54906 broad.mit.edu 37 10 5804550 5804550 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:5804550T>C uc001iij.2 + 20 7855 c.7230T>C c.(7228-7230)GAT>GAC p.D2410D C10orf18_uc001iik.2_Silent_p.D1254D NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2410 ovary(1)|central_nervous_system(1) 2 TTGTTACAGATGTAAATAACT 0.303 NA 8 71 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55700733 55700733 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:55700733G>C uc001jju.1 - 24 3520 c.3125C>G c.(3124-3126)CCT>CGT p.P1042R PCDH15_uc010qhq.1_Missense_Mutation_p.P1047R|PCDH15_uc010qhr.1_Missense_Mutation_p.P1042R|PCDH15_uc010qhs.1_Missense_Mutation_p.P1054R|PCDH15_uc010qht.1_Missense_Mutation_p.P1049R|PCDH15_uc010qhu.1_Missense_Mutation_p.P1042R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1042R|PCDH15_uc010qhw.1_Missense_Mutation_p.P1005R|PCDH15_uc010qhx.1_Missense_Mutation_p.P971R|PCDH15_uc010qhy.1_Missense_Mutation_p.P1047R|PCDH15_uc010qhz.1_Missense_Mutation_p.P1042R|PCDH15_uc010qia.1_Missense_Mutation_p.P1020R|PCDH15_uc010qib.1_Missense_Mutation_p.P1020R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1042 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TACTGGAGGAGGTCTGCAGGT 0.269 NA HNSCC(58;0.16) 5 21 0 0 0 0 TACR2 6865 broad.mit.edu 37 10 71166838 71166838 + Splice_Site SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:71166838A>G uc001jpn.2 - 4 1533 c.938_splice c.e4+1 p.R313_splice TACR2_uc001jpm.2_Splice_Site_p.R101_splice NM_001057 NP_001048 P21452 NK2R_HUMAN tachykinin receptor 2 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity prostate(1) 1 Clonidine(DB00575)|Octreotide(DB00104) GTGGGGGCTCACCTGTGGTTG 0.602 NA 8 56 0 0 0 0 RGR 5995 broad.mit.edu 37 10 86014100 86014100 + Silent SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:86014100C>G uc001kdc.1 + 5 569 c.531C>G c.(529-531)CTC>CTG p.L177L RGR_uc001kdd.1_Silent_p.L181L|RGR_uc001kde.1_Silent_p.L177L NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 177 Helical; Name=5; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CCAGCTTCCTCTTCACCATGT 0.562 NA 7 68 0 0 0 0 PDZD8 118987 broad.mit.edu 37 10 119049706 119049706 + Missense_Mutation SNP C C T rs150304837 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:119049706C>T uc001lde.1 - 4 1451 c.1252G>A c.(1252-1254)GCC>ACC p.A418T NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 418 PDZ. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CCTCCAATGGCGATAAGTCGA 0.423 NA 13 47 0 0 0 0 GRK5 2869 broad.mit.edu 37 10 121156241 121156241 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr10:121156241G>A uc001led.2 + 4 529 c.296G>A c.(295-297)GGA>GAA p.G99E GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 99 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GAAAAACTGGGAGAGAAAGGG 0.393 NA 13 75 0 0 0 0 RIC8A 60626 broad.mit.edu 37 11 209868 209868 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:209868G>A uc001log.2 + 3 919 c.594G>A c.(592-594)CTG>CTA p.L198L BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.L198L|RIC8A_uc001loh.2_Silent_p.L191L NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 198 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CACTGGAGCTGACGCTGGGGG 0.597 NA 12 47 0 0 0 0 PDDC1 347862 broad.mit.edu 37 11 773582 773582 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:773582T>C uc001lrc.2 - 4 320 c.295A>G c.(295-297)ACC>GCC p.T99A PDDC1_uc010qwm.1_Missense_Mutation_p.T49A|PDDC1_uc001lrd.2_Missense_Mutation_p.T99A|PDDC1_uc001lrf.1_Intron|PDDC1_uc001lrg.1_Intron|PDDC1_uc009ycg.2_Missense_Mutation_p.T49A|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Intron|PDDC1_uc010qwq.1_Intron|PDDC1_uc010qwr.1_Missense_Mutation_p.T99A|PDDC1_uc010qws.1_Missense_Mutation_p.T49A NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 99 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCAGGTCGGTCAGGGCCCCA 0.637 NA 3 21 0 0 0 0 MUC15 143662 broad.mit.edu 37 11 26587071 26587071 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:26587071A>G uc001mqx.2 - 2 601 c.335T>C c.(334-336)TTG>TCG p.L112S ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.L139S|MUC15_uc001mqy.2_Missense_Mutation_p.L139S NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 112 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCTATGGATCAAGGGAGGGCT 0.453 NA 6 93 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33620472 33620472 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:33620472G>C uc001mup.3 + 12 4109 c.3985G>C c.(3985-3987)GAG>CAG p.E1329Q C11orf41_uc001mun.1_3'UTR NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1323 integral to membrane ovary(2) 2 AGTGACAAAGGAGGAGGCAAG 0.577 NA 5 22 0 0 0 0 ARHGAP1 392 broad.mit.edu 37 11 46702656 46702656 + Missense_Mutation SNP G G T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:46702656G>T uc001ndd.2 - 7 609 c.540C>A c.(538-540)TTC>TTA p.F180L NM_004308 NP_004299 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 180 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity skin(1) 1 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GCCCGAACTTGAAGCTGTTGG 0.602 NA 4 42 0.00909568 0.0093116 1 0 CKAP5 9793 broad.mit.edu 37 11 46771969 46771969 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:46771969T>C uc001ndi.1 - 42 5669 c.5559A>G c.(5557-5559)TTA>TTG p.L1853L CKAP5_uc009ylg.1_Silent_p.L1746L|CKAP5_uc001ndj.1_Silent_p.L1793L|CKAP5_uc001ndh.1_Silent_p.L782L NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1853 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 TATATTCATATAACTCTGCTA 0.428 NA 15 51 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47305742 47305742 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:47305742A>G uc001ner.1 + 11 2067 c.1876A>G c.(1876-1878)ATG>GTG p.M626V MADD_uc001neq.2_Missense_Mutation_p.M626V|MADD_uc001nev.1_Missense_Mutation_p.M626V|MADD_uc001nes.1_Missense_Mutation_p.M626V|MADD_uc001net.1_Missense_Mutation_p.M626V|MADD_uc009yln.1_Missense_Mutation_p.M626V|MADD_uc001neu.1_Missense_Mutation_p.M626V|MADD_uc001nex.2_Missense_Mutation_p.M626V|MADD_uc001nez.2_Missense_Mutation_p.M626V|MADD_uc001new.2_Missense_Mutation_p.M626V NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 626 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CAGTGATAGTATGGATTATGA 0.423 NA 16 93 0 0 0 0 RCOR2 283248 broad.mit.edu 37 11 63681511 63681511 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:63681511C>T uc001nyc.2 - 8 1194 c.806G>A c.(805-807)GGC>GAC p.G269D NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN REST corepressor 2 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1)|skin(1) 2 TGCCGTGAGGCCTTCAGGGCT 0.642 NA 17 129 0 0 0 0 UVRAG 7405 broad.mit.edu 37 11 75826972 75826972 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:75826972G>A uc001oxc.2 + 14 1551 c.1310G>A c.(1309-1311)AGA>AAA p.R437K UVRAG_uc010rrw.1_Missense_Mutation_p.R336K|UVRAG_uc001oxd.2_Missense_Mutation_p.R65K|UVRAG_uc010rrx.1_Missense_Mutation_p.R65K|UVRAG_uc010rry.1_5'UTR NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 437 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 TCACAGCTAAGATATCAACAT 0.373 NA 5 25 0 0 0 0 NOX4 50507 broad.mit.edu 37 11 89223667 89223667 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:89223667T>C uc001pct.2 - 2 351 c.112A>G c.(112-114)AAC>GAC p.N38D NOX4_uc009yvr.2_Intron|NOX4_uc001pcu.2_Translation_Start_Site|NOX4_uc001pcw.2_Missense_Mutation_p.N38D|NOX4_uc001pcx.2_Missense_Mutation_p.N38D|NOX4_uc001pcv.2_Missense_Mutation_p.N38D|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Translation_Start_Site|NOX4_uc009yvp.2_Missense_Mutation_p.N38D|NOX4_uc010rtv.1_Missense_Mutation_p.N14D|NOX4_uc009yvq.2_Missense_Mutation_p.N14D|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 38 Extracellular (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GGCCCTTGGTTATACAGCAAG 0.418 NA 15 63 0 0 0 0 RNF214 257160 broad.mit.edu 37 11 117109781 117109781 + Missense_Mutation SNP A A T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr11:117109781A>T uc001pqt.2 + 3 617 c.572A>T c.(571-573)GAT>GTT p.D191V RNF214_uc001pqu.2_Missense_Mutation_p.D191V|RNF214_uc010rxf.1_Intron NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 191 zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CAGGATGATGATCAAGATAGC 0.468 NA 13 75 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6078430 6078430 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:6078430G>A uc001qnn.1 - 45 7926 c.7676C>T c.(7675-7677)TCG>TTG p.S2559L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2559 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGAAAGCCCGAGGGGCAGAC 0.592 NA 4 49 0 0 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687355 8687355 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:8687355G>A uc001quo.1 - 6 704 c.539C>T c.(538-540)GCC>GTC p.A180V NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 180 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) TCTCATGGTGGCACAGTCCTC 0.413 NA 18 55 0 0 0 0 KLHDC5 57542 broad.mit.edu 37 12 27950650 27950650 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:27950650C>T uc001rij.2 + 3 1146 c.1069C>T c.(1069-1071)CGG>TGG p.R357W KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 357 Kelch 4. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) TCTTTCAGACCGGAACATGAA 0.473 NA 45 328 0 0 0 0 KRT81 3887 broad.mit.edu 37 12 52681054 52681054 + Missense_Mutation SNP G G T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:52681054G>T uc001sab.2 - 7 1129 c.1079C>A c.(1078-1080)GCC>GAC p.A360D KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 360 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) ATCACTGAGGGCCGCCTCACC 0.617 NA 8 45 7.48e-07 8.02e-07 1 0 SOAT2 8435 broad.mit.edu 37 12 53516967 53516967 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:53516967C>T uc001sbv.2 + 13 1427 c.1339C>T c.(1339-1341)CCC>TCC p.P447S SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 447 Helical; (Potential). cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 GTTCTTCTATCCCGTCATGCT 0.592 NA 11 52 0 0 0 0 USP15 9958 broad.mit.edu 37 12 62785134 62785134 + Missense_Mutation SNP G G C rs7358652 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:62785134G>C uc001src.1 + 16 2167 c.2158G>C c.(2158-2160)GGC>CGC p.G720R USP15_uc001srb.1_Missense_Mutation_p.G691R NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 720 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) CAACAACTTAGGCAATACTGA 0.358 NA 12 83 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112610649 112610649 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:112610649C>T uc009zwc.2 - 60 10363 c.10345G>A c.(10345-10347)GTC>ATC p.V3449I NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GCATGTCGGACATCGATGCAT 0.587 NA 7 61 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112666473 112666473 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:112666473C>T uc009zwc.2 - 35 5414 c.5396G>A c.(5395-5397)AGA>AAA p.R1799K C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AACACAAAGTCTAGACAATGG 0.398 NA 6 58 0 0 0 0 DCLK1 9201 broad.mit.edu 37 13 36700050 36700050 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr13:36700050G>A uc001uvf.2 - 2 458 c.225C>T c.(223-225)GCC>GCT p.A75A NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 75 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTGGGGAGATGGCATACACAA 0.527 NA 12 56 0 0 0 0 F7 2155 broad.mit.edu 37 13 113773175 113773175 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr13:113773175G>A uc001vsv.2 + 9 1305 c.1254G>A c.(1252-1254)CTG>CTA p.L418L F7_uc001vsw.2_Silent_p.L396L|F7_uc010tjt.1_Silent_p.L349L NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 418 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CGTGGTACCTGACGGGCATCG 0.627 NA 8 18 0 0 0 0 PRMT5 10419 broad.mit.edu 37 14 23397351 23397351 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr14:23397351C>T uc001whm.1 - 3 390 c.299G>A c.(298-300)CGC>CAC p.R100H PRMT5_uc001whl.1_Missense_Mutation_p.R83H|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tng.1_Intron|PRMT5_uc010tnh.1_Intron|PRMT5_uc001whn.1_Missense_Mutation_p.R83H NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 100 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GGAGTTCCTGCGAATCTTCTC 0.498 NA 5 40 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51192739 51192739 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr14:51192739C>T uc001wym.2 - 30 6315 c.6124G>A c.(6124-6126)GAA>AAA p.E2042K NIN_uc001wyi.2_Missense_Mutation_p.E2042K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E1329K|NIN_uc010tqp.1_Missense_Mutation_p.E2048K NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 2042 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TGTTCAACTTCTATCATTCGT 0.413 NA T PDGFRB MPD 11 66 0 0 0 0 NID2 22795 broad.mit.edu 37 14 52520909 52520909 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr14:52520909A>G uc001wzo.2 - 4 1132 c.898T>C c.(898-900)TTC>CTC p.F300L NID2_uc010tqs.1_Missense_Mutation_p.F300L|NID2_uc010tqt.1_Missense_Mutation_p.F300L|NID2_uc001wzp.2_Missense_Mutation_p.F300L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 300 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GCATGGCTGAAGGAACGTCCC 0.517 NA 6 17 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452228 102452228 + Missense_Mutation SNP A A T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr14:102452228A>T uc001yks.2 + 8 1830 c.1666A>T c.(1666-1668)AGG>TGG p.R556W NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 556 Interaction with DYNC1I2 (By similarity).|Stem (By similarity).|Potential. cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GTACGATGAGAGGATCGACAG 0.512 NA 12 35 0 0 0 0 SPESP1 246777 broad.mit.edu 37 15 69238891 69238891 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr15:69238891T>C uc002arn.1 + 2 1146 c.1018T>C c.(1018-1020)TCA>CCA p.S340P NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 340 multicellular organismal development acrosomal vesicle 0 TATGTGTAGATCAAGGAGAGT 0.264 NA 10 40 0 0 0 0 FAM108C1 58489 broad.mit.edu 37 15 81046631 81046631 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr15:81046631G>A uc002bfu.2 + 3 1029 c.910G>A c.(910-912)GGG>AGG p.G304R FAM108C1_uc002bft.2_Missense_Mutation_p.G263R NM_021214 NP_067037 Q6PCB6 F108C_HUMAN hypothetical protein LOC58489 304 hydrolase activity 0 TGAAGGGGCTGGGCATAATGA 0.473 NA 3 38 0 0 0 0 SNRPA1 6627 broad.mit.edu 37 15 101821964 101821964 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr15:101821964C>T uc002bww.2 - 9 810 c.733G>A c.(733-735)GAG>AAG p.E245K SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA NM_003090 NP_003081 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 245 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding kidney(1) 1 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTTCCATCTCTTCTTCACCA 0.348 NA 12 37 0 0 0 0 ZNF598 90850 broad.mit.edu 37 16 2052728 2052728 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:2052728G>A uc002cof.1 - 6 486 c.471C>T c.(469-471)TTC>TTT p.F157F ZNF598_uc002coe.1_5'Flank NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 157 intracellular zinc ion binding lung(1)|breast(1) 2 GCTCATATGTGAAGATCTACA 0.657 NA 3 10 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17221565 17221565 + Silent SNP G G A rs112238716 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:17221565G>A uc002dfa.2 - 10 2266 c.2181C>T c.(2179-2181)ATC>ATT p.I727I NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 727 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GTGGGCTTGCGATCTTGAAGA 0.493 NA 28 145 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18840717 18840717 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:18840717G>C uc002dfm.2 - 54 9857 c.9494C>G c.(9493-9495)TCT>TGT p.S3165C SMG1_uc010bwb.2_Missense_Mutation_p.S3025C|SMG1_uc010bwa.2_Missense_Mutation_p.S1896C NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3165 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGTGTCGTAAGAACTTGCTAA 0.463 NA 3 41 0 0 0 0 NUPR1 26471 broad.mit.edu 37 16 28549476 28549476 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:28549476C>T uc002dqe.1 - 2 380 c.113G>A c.(112-114)GGA>GAA p.G38E uc010vct.1_Intron|NUPR1_uc002dqd.1_Missense_Mutation_p.G56E NM_012385 NP_036517 O60356 NUPR1_HUMAN p8 protein isoform b 38 cell growth|induction of apoptosis nucleus 0 GCCTCCACCTCCTGTAACCAA 0.612 NA 18 103 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51175973 51175973 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:51175973C>T uc010vgs.1 - 2 191 c.160G>A c.(160-162)GAA>AAA p.E54K SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 54 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTGATAATTCAAAGAACTCG 0.458 NA 20 119 0 0 0 0 HAS3 3038 broad.mit.edu 37 16 69148735 69148735 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:69148735C>G uc010cfh.2 + 4 1452 c.1228C>G c.(1228-1230)CTC>GTC p.L410V HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.L410V NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 410 Helical; Name=4; (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CTGGAACATTCTCCTCTTCCT 0.547 NA 4 94 0 0 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674673 71674673 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:71674673C>T uc002fau.2 + 3 1039 c.976C>T c.(976-978)CTG>TTG p.L326L PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) CCACGTGGCTCTGCAGATCAA 0.587 NA 4 48 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75513583 75513583 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr16:75513583C>T uc002fef.2 - 3 324 c.144G>A c.(142-144)TCG>TCA p.S48S CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.S48S NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 48 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CCGAGCGCCACGAGGACAGCA 0.672 NA 3 21 0 0 0 0 OR3A1 4994 broad.mit.edu 37 17 3195220 3195220 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:3195220G>C uc002fvh.1 - 1 657 c.657C>G c.(655-657)ATC>ATG p.I219M NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 GGATATAGGAGATGACAATGA 0.537 NA 12 26 0 0 0 0 TRPV3 162514 broad.mit.edu 37 17 3417907 3417907 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:3417907G>A uc002fvt.1 - 17 2580 c.2258C>T c.(2257-2259)CCG>CTG p.P753L SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P737L|TRPV3_uc010vri.1_Missense_Mutation_p.P708L|TRPV3_uc010vrj.1_Missense_Mutation_p.P737L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P737L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P753L|TRPV3_uc002fvu.2_Missense_Mutation_p.P753L NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 753 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) TACAGGCCCCGGGTCTTCGTT 0.408 NA 7 25 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 39 0 0 0 0 RAB34 83871 broad.mit.edu 37 17 27042864 27042864 + Nonsense_Mutation SNP C C A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:27042864C>A uc002hce.2 - 4 892 c.268G>T c.(268-270)GAG>TAG p.E90* RAB34_uc002hcg.2_Nonsense_Mutation_p.E90*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E91*|RAB34_uc010was.1_Nonsense_Mutation_p.E147*|RAB34_uc010wat.1_Nonsense_Mutation_p.E147*|RAB34_uc002hch.2_Nonsense_Mutation_p.E90*|RAB34_uc010wau.1_Nonsense_Mutation_p.E68*|RAB34_uc010wav.1_Nonsense_Mutation_p.E148* NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 90 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CGTTCCATCTCGAAGTCCACT 0.547 NA 29 105 1.81e-10 1.98e-10 1 0 GPR179 440435 broad.mit.edu 37 17 36483161 36483161 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:36483161G>A uc002hpz.2 - 11 6312 c.6291C>T c.(6289-6291)AGC>AGT p.S2097S NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 2097 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AACTGCCTCTGCTTCTGTCAG 0.582 NA 13 73 0 0 0 0 KCNH6 81033 broad.mit.edu 37 17 61621726 61621726 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr17:61621726C>T uc002jay.2 + 12 2538 c.2458C>T c.(2458-2460)CTG>TTG p.L820L KCNH6_uc010wpl.1_Silent_p.L661L|KCNH6_uc010wpm.1_Silent_p.L784L|KCNH6_uc002jaz.1_Silent_p.L731L NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 820 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TTGCTGGCCTCTGAAGCTGGG 0.617 NA 9 19 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65179743 65179743 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr18:65179743T>C uc002lke.1 - 2 3357 c.2133A>G c.(2131-2133)GGA>GGG p.G711G NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 701 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AAATCTGAAGTCCAGGATTGG 0.363 NA 11 45 0 0 0 0 ZNF491 126069 broad.mit.edu 37 19 11917375 11917375 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:11917375C>G uc002mso.1 + 3 892 c.607C>G c.(607-609)CGC>GGC p.R203G NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 203 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAGTTCCTTTCGCAGACATGA 0.438 NA 23 18 0 0 0 0 OR10H2 26538 broad.mit.edu 37 19 15839214 15839214 + Missense_Mutation SNP G G A rs113885700 byFrequency TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:15839214G>A uc002nbm.2 + 1 381 c.361G>A c.(361-363)GAC>AAC p.D121N NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGGGCTACGACCGCTACGT 0.652 NA 6 55 0 0 0 0 GPATCH1 55094 broad.mit.edu 37 19 33587186 33587186 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:33587186C>T uc002nug.1 + 7 1000 c.686C>T c.(685-687)CCT>CTT p.P229L NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 229 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GATTTCACACCTAAAGATAAT 0.438 NA 14 87 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40420125 40420125 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:40420125C>G uc002omp.3 - 6 2877 c.2869G>C c.(2869-2871)GAT>CAT p.D957H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 957 VWFD 2. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACCTGCCCATCTGCTGCTTGG 0.567 NA 8 45 0 0 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622401 41622401 + Silent SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:41622401A>G uc002opu.1 + 3 269 c.213A>G c.(211-213)GGA>GGG p.G71G CYP2F1_uc010xvw.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.G71G|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 71 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 TGCACCTGGGACCCAGGCGGG 0.612 NA 5 109 0 0 0 0 SYMPK 8189 broad.mit.edu 37 19 46319207 46319207 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:46319207C>T uc002pdn.2 - 26 3834 c.3589G>A c.(3589-3591)GAG>AAG p.E1197K RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1197 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GTCTCGCACTCAGGCCCCTCC 0.597 NA 3 16 0 0 0 0 CCDC61 729440 broad.mit.edu 37 19 46509871 46509871 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:46509871C>T uc002pdw.2 + 5 457 c.457C>T c.(457-459)CGG>TGG p.R153W NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GGAGTCCCTGCGGAACCGCAA 0.632 NA 9 28 0 0 0 0 ZNF766 90321 broad.mit.edu 37 19 52785416 52785416 + Missense_Mutation SNP A A T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:52785416A>T uc002pyr.1 + 2 114 c.71A>T c.(70-72)AAA>ATA p.K24I ZNF766_uc002pys.1_Missense_Mutation_p.K24I|ZNF766_uc002pyt.1_Missense_Mutation_p.K39I NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GAGGAGTGGAAATGCCTGGAC 0.463 NA 32 152 0 0 0 0 CNOT3 4849 broad.mit.edu 37 19 54653382 54653382 + Silent SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:54653382G>C uc002qdj.1 + 13 1805 c.1494G>C c.(1492-1494)GTG>GTC p.V498V CNOT3_uc010yel.1_Silent_p.V498V|CNOT3_uc002qdi.2_Silent_p.V411V|CNOT3_uc002qdk.1_Silent_p.V498V|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'UTR NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 498 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCTCCTGGTGCCACTGCCTG 0.677 NA 5 23 0 0 0 0 ZNF211 10520 broad.mit.edu 37 19 58146066 58146066 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr19:58146066C>G uc002qpq.2 + 2 340 c.160C>G c.(160-162)CAG>GAG p.Q54E ZNF211_uc010yhb.1_Missense_Mutation_p.Q58E|ZNF211_uc002qpp.2_Missense_Mutation_p.Q67E|ZNF211_uc002qpr.2_Missense_Mutation_p.Q66E|ZNF211_uc002qps.2_Missense_Mutation_p.Q67E|ZNF211_uc002qpt.2_Missense_Mutation_p.Q66E|ZNF211_uc010yhc.1_Missense_Mutation_p.Q66E|ZNF211_uc010yhd.1_5'UTR|ZNF211_uc010yhe.1_5'UTR NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 54 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGATGAGGCTCAGAAACACCT 0.502 NA 12 84 0 0 0 0 CLIP4 79745 broad.mit.edu 37 2 29375604 29375604 + Missense_Mutation SNP A A G rs147860020 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:29375604A>G uc002rmv.2 + 9 1314 c.1075A>G c.(1075-1077)ATA>GTA p.I359V CLIP4_uc002rmu.2_Missense_Mutation_p.I359V|CLIP4_uc010ezm.1_Missense_Mutation_p.I359V|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.I341V NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 359 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) AAGGAAGAATATAACACACAC 0.363 NA 4 42 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71828648 71828648 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:71828648C>T uc002sie.2 + 35 4239 c.3863C>T c.(3862-3864)CCT>CTT p.P1288L DYSF_uc010feg.2_Missense_Mutation_p.P1319L|DYSF_uc010feh.2_Missense_Mutation_p.P1274L|DYSF_uc002sig.3_Missense_Mutation_p.P1274L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1288L|DYSF_uc010fef.2_Missense_Mutation_p.P1305L|DYSF_uc010fei.2_Missense_Mutation_p.P1305L|DYSF_uc010fek.2_Missense_Mutation_p.P1306L|DYSF_uc010fej.2_Missense_Mutation_p.P1275L|DYSF_uc010fel.2_Missense_Mutation_p.P1275L|DYSF_uc010feo.2_Missense_Mutation_p.P1320L|DYSF_uc010fem.2_Missense_Mutation_p.P1289L|DYSF_uc010fen.2_Missense_Mutation_p.P1306L|DYSF_uc002sif.2_Missense_Mutation_p.P1289L|DYSF_uc010yqy.1_Missense_Mutation_p.P169L|DYSF_uc010yqz.1_Missense_Mutation_p.P28L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1288 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CACCATATTCCTGGTTTTGAG 0.512 NA 7 47 0 0 0 0 NCAPH 23397 broad.mit.edu 37 2 97007517 97007517 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:97007517G>A uc002svz.1 + 2 241 c.157G>A c.(157-159)GAA>AAA p.E53K NCAPH_uc010fhu.1_Missense_Mutation_p.E29K|NCAPH_uc010fhv.1_Missense_Mutation_p.E42K|NCAPH_uc010yum.1_Missense_Mutation_p.E29K|NCAPH_uc010fhw.1_Missense_Mutation_p.E42K|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 53 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) CCCAGTCCTCGAAGACTTTCC 0.597 NA 18 91 0 0 0 0 EPB41L5 57669 broad.mit.edu 37 2 120833323 120833323 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:120833323C>G uc002tmg.2 + 7 625 c.499C>G c.(499-501)CTG>GTG p.L167V EPB41L5_uc010flk.2_Missense_Mutation_p.L167V|EPB41L5_uc010fll.2_Missense_Mutation_p.L167V|EPB41L5_uc002tmh.3_Missense_Mutation_p.L167V|EPB41L5_uc010flm.2_5'Flank NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 167 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 AGCTTATAATCTGCAAGGTAA 0.323 NA 10 56 0 0 0 0 POTEF 728378 broad.mit.edu 37 2 130832564 130832564 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:130832564G>A uc010fmh.2 - 17 2881 c.2481C>T c.(2479-2481)TTC>TTT p.F827F NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 827 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 CTGGGGTGTTGAAGGTCTCAA 0.612 NA 32 118 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152483523 152483523 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:152483523A>G uc010fnx.2 - 66 9802 c.9611T>C c.(9610-9612)ATG>ACG p.M3204T NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3204 Nebulin 87. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CACCTTGTTCATATTGAGAGC 0.408 NA 16 61 0 0 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080540 178080540 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:178080540T>C uc002ulb.1 + 3 364 c.258T>C c.(256-258)GTT>GTC p.V86V HNRNPA3_uc002ulc.1_Silent_p.V86V|HNRNPA3_uc002uld.2_Silent_p.V64V|HNRNPA3_uc002ule.2_5'Flank NM_194247 NP_919223 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 86 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(2) 2 ATTCTTGTGTTGAAGAGGTGG 0.408 NA 17 95 0 0 0 0 OSBPL6 114880 broad.mit.edu 37 2 179251794 179251794 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:179251794G>A uc002ulx.2 + 20 2462 c.2084G>A c.(2083-2085)AGA>AAA p.R695K OSBPL6_uc002uly.2_Missense_Mutation_p.R720K|OSBPL6_uc010zfe.1_Missense_Mutation_p.R664K|OSBPL6_uc002ulz.2_Missense_Mutation_p.R659K|OSBPL6_uc002uma.2_Missense_Mutation_p.R699K NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 695 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTAGATATCAGATGGAAAAAC 0.398 NA 5 28 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179641976 179641976 + Nonsense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:179641976G>A uc010zfg.1 - 27 4938 c.4714C>T c.(4714-4716)CGA>TGA p.R1572* TTN_uc010zfh.1_Nonsense_Mutation_p.R1526*|TTN_uc010zfi.1_Nonsense_Mutation_p.R1526*|TTN_uc010zfj.1_Nonsense_Mutation_p.R1526*|TTN_uc002unb.2_Nonsense_Mutation_p.R1572*|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1572 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) ATTTCAAGTCGGGAACCTTCC 0.393 NA 21 70 0 0 0 0 ORC2L 4999 broad.mit.edu 37 2 201791527 201791527 + Silent SNP G G T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:201791527G>T uc002uwr.2 - 12 1271 c.1014C>A c.(1012-1014)GTC>GTA p.V338V ORC2L_uc010zhj.1_Silent_p.V338V NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 338 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 AGCCATTGATGACAACGTGAA 0.388 NA 9 75 0.00621372 0.0063992 1 0 GIGYF2 26058 broad.mit.edu 37 2 233684583 233684583 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr2:233684583G>A uc002vti.3 + 23 2754 c.2417G>A c.(2416-2418)CGA>CAA p.R806Q GIGYF2_uc002vtg.2_Missense_Mutation_p.R800Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R827Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R806Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R800Q|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.R637Q|GIGYF2_uc002vtq.3_Missense_Mutation_p.R139Q NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 806 Gln-rich.|Glu-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCATTAAGGCGACAGCGAGAA 0.512 NA 5 22 0 0 0 0 HAO1 54363 broad.mit.edu 37 20 7866452 7866452 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr20:7866452G>A uc002wmw.1 - 6 897 c.873C>T c.(871-873)GAC>GAT p.D291D HAO1_uc010gbu.2_Silent_p.D291D NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 291 FMN binding.|FMN hydroxy acid dehydrogenase.|FMN (By similarity). cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GCACACCCCCGTCCAGGAAGA 0.502 NA 15 120 0 0 0 0 XRN2 22803 broad.mit.edu 37 20 21335499 21335499 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr20:21335499C>T uc002wsf.1 + 21 2104 c.2009C>T c.(2008-2010)ACT>ATT p.T670I XRN2_uc002wsg.1_Missense_Mutation_p.T594I|XRN2_uc010zsk.1_Missense_Mutation_p.T616I NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 670 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 CCAGACCTCACTCCAGAAGAG 0.398 NA 3 25 0 0 0 0 PFKL 5211 broad.mit.edu 37 21 45746680 45746680 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr21:45746680G>A uc002zel.2 + 22 2337 c.2278G>A c.(2278-2280)GCC>ACC p.A760T PFKL_uc002zek.2_Missense_Mutation_p.A807T|PFKL_uc002zem.2_Missense_Mutation_p.A347T|PFKL_uc002zen.2_Missense_Mutation_p.A347T NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 760 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) CAGTATGGCCGCCTACGTGTC 0.667 NA 3 9 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072823 17072823 + Silent SNP G G A rs137862002 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr22:17072823G>A uc002zlp.1 - 1 878 c.618C>T c.(616-618)TGC>TGT p.C206C NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 206 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGGGCAGCGCGCACACCCCAA 0.617 NA 4 83 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36710351 36710351 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr22:36710351C>G uc003apg.2 - 13 1624 c.1393G>C c.(1393-1395)GAG>CAG p.E465Q MYH9_uc003aph.1_Missense_Mutation_p.E329Q NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 465 Myosin head-like. 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 CACAGCTGCTCAAACGAGTTC 0.547 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 14 32 0 0 0 0 PICK1 9463 broad.mit.edu 37 22 38465066 38465066 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr22:38465066G>A uc003auq.2 + 6 766 c.376G>A c.(376-378)GTG>ATG p.V126M PICK1_uc003aur.2_Missense_Mutation_p.V126M|PICK1_uc003aus.2_Missense_Mutation_p.V126M|PICK1_uc003aut.2_Missense_Mutation_p.V126M NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 126 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) GCACCGGCTGGTGGAGAACAT 0.632 NA 10 15 0 0 0 0 IL17RC 84818 broad.mit.edu 37 3 9960234 9960234 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:9960234C>T uc003bua.2 + 5 855 c.619C>T c.(619-621)CGC>TGC p.R207C CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.R111C|IL17RC_uc003btz.2_Missense_Mutation_p.R136C|IL17RC_uc011atp.1_Missense_Mutation_p.R7C|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.R136C|IL17RC_uc010hct.2_Missense_Mutation_p.R136C|IL17RC_uc010hcu.2_Missense_Mutation_p.R136C|IL17RC_uc010hcv.2_Missense_Mutation_p.R136C|IL17RC_uc011atq.1_Missense_Mutation_p.R136C|IL17RC_uc003buc.2_5'UTR NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 207 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 CCCTACTGCCCGCTGCGTCCT 0.572 NA 8 51 0 0 0 0 C3orf10 55845 broad.mit.edu 37 3 10157479 10157479 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:10157479A>G uc003bvb.2 + 1 147 c.94A>G c.(94-96)ATC>GTC p.I32V NM_018462 NP_060932 Q8WUW1 BRK1_HUMAN chromosome 3 open reading frame 10 32 cytoplasm|cytoskeleton 0 CATCAAGAAAATCGCAGACTT 0.632 NA 7 30 0 0 0 0 RARB 5915 broad.mit.edu 37 3 25611301 25611301 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:25611301C>T uc011awl.1 + 4 588 c.522C>T c.(520-522)TGC>TGT p.C174C RARB_uc003cdi.1_Silent_p.C55C|RARB_uc003cdh.2_Silent_p.C167C NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 174 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGCAAGAATGCACAGAGAGCT 0.493 NA 5 43 0 0 0 0 TRAK1 22906 broad.mit.edu 37 3 42242386 42242386 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:42242386A>G uc003cky.2 + 12 1483 c.1267A>G c.(1267-1269)ATG>GTG p.M423V TRAK1_uc011azh.1_Missense_Mutation_p.M423V|TRAK1_uc011azi.1_Missense_Mutation_p.M423V|TRAK1_uc003ckz.3_Missense_Mutation_p.M349V|TRAK1_uc011azj.1_Missense_Mutation_p.M349V|TRAK1_uc003cla.2_Missense_Mutation_p.M365V NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 423 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CCCTTCTCCCATGAACATCCC 0.567 NA 13 67 0 0 0 0 KIF15 56992 broad.mit.edu 37 3 44852484 44852484 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:44852484G>A uc003cnx.3 + 17 2267 c.2118G>A c.(2116-2118)GAG>GAA p.E706E KIF15_uc010hiq.2_Silent_p.E609E|KIF15_uc003cny.1_Silent_p.E341E NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 706 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTCCTCCTGAGATGAATGAAC 0.343 NA 9 50 0 0 0 0 SLC12A8 84561 broad.mit.edu 37 3 124810400 124810400 + Missense_Mutation SNP C C A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:124810400C>A uc003ehv.3 - 12 1915 c.1804G>T c.(1804-1806)GCT>TCT p.A602S SLC12A8_uc003ehw.3_Missense_Mutation_p.A631S|SLC12A8_uc003eht.3_Missense_Mutation_p.A403S|SLC12A8_uc003ehu.3_Missense_Mutation_p.A355S|SLC12A8_uc010hry.2_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 602 Helical; (Potential). potassium ion transport integral to membrane symporter activity 0 GACCCAACAGCCTGTGAAAAC 0.468 NA 10 26 0.00621372 0.0063992 1 0 VEPH1 79674 broad.mit.edu 37 3 157031448 157031448 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:157031448C>G uc003fbj.1 - 11 2289 c.1972G>C c.(1972-1974)GAA>CAA p.E658Q VEPH1_uc003fbk.1_Missense_Mutation_p.E658Q|VEPH1_uc010hvu.1_Intron NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 658 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ATGGCAGTTTCAAAGCTGTGA 0.478 NA 12 46 0 0 0 0 SI 6476 broad.mit.edu 37 3 164764678 164764678 + Missense_Mutation SNP T T A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:164764678T>A uc003fei.2 - 16 1900 c.1838A>T c.(1837-1839)GAA>GTA p.E613V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 613 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATAGACCATTCCATTTGTTC 0.383 NA HNSCC(35;0.089) 29 91 0 0 0 0 KLHL24 54800 broad.mit.edu 37 3 183368442 183368442 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:183368442A>G uc003flv.2 + 3 593 c.298A>G c.(298-300)AGG>GGG p.R100G KLHL24_uc003flw.2_Missense_Mutation_p.R100G|KLHL24_uc003flx.2_Missense_Mutation_p.R100G NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 100 BTB. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TAATGACCACAGGGAAAGCCG 0.398 NA 52 119 0 0 0 0 RTP1 132112 broad.mit.edu 37 3 186917476 186917476 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr3:186917476C>T uc003frg.2 + 2 440 c.410C>T c.(409-411)ACG>ATG p.T137M NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 137 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GAGTGCGGCACGGCGCGGCTG 0.662 NA 8 40 0 0 0 0 KLB 152831 broad.mit.edu 37 4 39449964 39449964 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:39449964C>G uc003gua.2 + 5 2890 c.2793C>G c.(2791-2793)TTC>TTG p.F931L KLB_uc011byj.1_Missense_Mutation_p.F922L NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 931 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 ATTATGCATTCAAACTGGCTG 0.323 NA 7 34 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316995 72316995 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:72316995T>C uc003hfy.2 + 11 1416 c.1299T>C c.(1297-1299)TGT>TGC p.C433C SLC4A4_uc010iic.2_Silent_p.C433C|SLC4A4_uc010iib.2_Silent_p.C433C|SLC4A4_uc003hfz.2_Silent_p.C433C|SLC4A4_uc003hgc.3_Silent_p.C389C|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Silent_p.C311C|SLC4A4_uc003hgb.3_Silent_p.C389C NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 433 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATGGGGATTGTGAAGAATTGC 0.433 NA 8 39 0 0 0 0 FAM13A 10144 broad.mit.edu 37 4 89660214 89660214 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:89660214C>G uc003hse.1 - 20 2737 c.2529G>C c.(2527-2529)CAG>CAC p.Q843H FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Missense_Mutation_p.Q314H|FAM13A_uc003hsb.1_Missense_Mutation_p.Q517H|FAM13A_uc003hsd.1_Missense_Mutation_p.Q517H|FAM13A_uc003hsc.1_Missense_Mutation_p.Q503H|FAM13A_uc011cdq.1_Missense_Mutation_p.Q489H|FAM13A_uc003hsf.1_Missense_Mutation_p.Q429H|FAM13A_uc003hsg.1_Missense_Mutation_p.Q314H NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 843 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GGGAGAGGATCTGTTTGACCA 0.493 NA 8 32 0 0 0 0 UNC5C 8633 broad.mit.edu 37 4 96256763 96256763 + Silent SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:96256763T>C uc003htp.1 - 2 298 c.144A>G c.(142-144)GAA>GAG p.E48E UNC5C_uc010ilc.1_Silent_p.E48E|UNC5C_uc003htq.2_Silent_p.E48E NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 48 Extracellular (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTTCTGGGAGTTCATGAAAAA 0.393 NA 5 24 0 0 0 0 PRDM5 11107 broad.mit.edu 37 4 121732584 121732584 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:121732584T>C uc003idn.2 - 8 1136 c.886A>G c.(886-888)ATA>GTA p.I296V PRDM5_uc003ido.2_Missense_Mutation_p.I265V|PRDM5_uc010ine.2_Missense_Mutation_p.I265V NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 296 C2H2-type 5. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 ACTGAACATATAAGCTTTTTC 0.299 NA 4 27 0 0 0 0 PCDH18 54510 broad.mit.edu 37 4 138450946 138450946 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:138450946T>C uc003ihe.3 - 1 2684 c.2297A>G c.(2296-2298)AAT>AGT p.N766S PCDH18_uc003ihf.3_Missense_Mutation_p.N759S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.N546S|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 766 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) CAGAGTGCCATTTATGGTAGG 0.517 NA 11 55 0 0 0 0 NPR3 4883 broad.mit.edu 37 5 32712139 32712139 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr5:32712139A>G uc003jhv.2 + 1 475 c.257A>G c.(256-258)AAC>AGC p.N86S NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.N86S NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 86 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GTGGAGGGCAACGGGACTGGG 0.632 NA 4 46 0 0 0 0 GZMK 3003 broad.mit.edu 37 5 54329703 54329703 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr5:54329703G>C uc003jpl.1 + 5 788 c.744G>C c.(742-744)AAG>AAC p.K248N NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 248 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TGTTAACCAAGAAATACCAGA 0.423 NA 6 58 0 0 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431659 140431659 + Nonsense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr5:140431659C>T uc003lik.1 + 1 681 c.604C>T c.(604-606)CGA>TGA p.R202* NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 202 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCCTGGACCGAGAGGAGCA 0.577 NA 4 27 0 0 0 0 TLX3 30012 broad.mit.edu 37 5 170738466 170738466 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr5:170738466G>A uc003mbf.2 + 3 821 c.739G>A c.(739-741)GCC>ACC p.A247T uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAACACGACGCCTTCCAAAA 0.652 NA T BCL11B T-ALL 5 14 0 0 0 0 TDP2 51567 broad.mit.edu 37 6 24658077 24658077 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:24658077G>A uc003nej.2 - 4 505 c.480C>T c.(478-480)TAC>TAT p.Y160Y TDP2_uc003nei.2_Silent_p.Y48Y|TDP2_uc010jpu.1_Silent_p.Y160Y NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 160 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 TCTTCTTTAGGTAGCTATAAT 0.299 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 10 51 0 0 0 0 DHX16 8449 broad.mit.edu 37 6 30624814 30624814 + Missense_Mutation SNP T T A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:30624814T>A uc003nqz.2 - 13 2275 c.2063A>T c.(2062-2064)TAT>TTT p.Y688F DHX16_uc003nqy.2_Missense_Mutation_p.Y207F|DHX16_uc011dmo.1_Missense_Mutation_p.Y628F NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 688 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 ATCCAGCACATAAATGATGCC 0.542 NA 5 24 0 0 0 0 ITPR3 3710 broad.mit.edu 37 6 33636358 33636358 + Silent SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:33636358C>G uc011drk.1 + 17 2172 c.1953C>G c.(1951-1953)CTC>CTG p.L651L NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 651 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 CCCAAGAGCTCATCTGCAAGT 0.617 NA 12 37 0 0 0 0 TRERF1 55809 broad.mit.edu 37 6 42222641 42222641 + Silent SNP C C T rs143046982 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:42222641C>T uc003osd.2 - 13 3167 c.2604G>A c.(2602-2604)CTG>CTA p.L868L TRERF1_uc011duq.1_Silent_p.L785L|TRERF1_uc003osb.2_Silent_p.L624L|TRERF1_uc003osc.2_Silent_p.L624L|TRERF1_uc003ose.2_Silent_p.L888L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 868 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGGCTTCCGCAGTAGCAGCA 0.522 NA 12 31 0 0 0 0 KLHDC3 116138 broad.mit.edu 37 6 42986153 42986153 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:42986153C>T uc003otl.2 + 6 761 c.592C>T c.(592-594)CGT>TGT p.R198C KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.R174C|KLHDC3_uc003otn.2_Missense_Mutation_p.R82C|KLHDC3_uc003oto.2_Missense_Mutation_p.R139C NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 198 Kelch 4. reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding upper_aerodigestive_tract(1) 1 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTTTGGGGGCCGTGCCGACCG 0.577 NA 26 41 0 0 0 0 MCM3 4172 broad.mit.edu 37 6 52141938 52141938 + Silent SNP T T A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:52141938T>A uc003pan.1 - 8 1202 c.1092A>T c.(1090-1092)CGA>CGT p.R364R MCM3_uc011dwu.1_Silent_p.R318R NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 364 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) TGGGGATAGCTCGGGGTGCAG 0.592 NA 12 50 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70639472 70639472 + Silent SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:70639472C>T uc003pfc.1 + 6 663 c.546C>T c.(544-546)GTC>GTT p.V182V COL19A1_uc010kam.1_Silent_p.V78V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 182 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AATCCCAGGTCATTTCACTTT 0.418 NA 11 68 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119295660 119295660 + Missense_Mutation SNP T T C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:119295660T>C uc003pyj.2 - 14 3196 c.2848A>G c.(2848-2850)ATC>GTC p.I950V FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 950 ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 GCCCGCATGATATTTTTCTCT 0.338 NA 58 177 0 0 0 0 CNKSR3 154043 broad.mit.edu 37 6 154831199 154831199 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:154831199C>G uc003qpy.2 - 1 555 c.50G>C c.(49-51)AGA>ACA p.R17T NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 17 SAM. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CCGCGCACCTCTAGTCCAGTC 0.647 NA 21 126 0 0 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166944753 166944753 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr6:166944753C>T uc003qvb.1 - 3 484 c.265G>A c.(265-267)GCC>ACC p.A89T RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A97T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.A114T NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 89 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) ACCTTCATGGCGTAGAGCTGC 0.502 NA 17 85 0 0 0 0 ASNS 440 broad.mit.edu 37 7 97498327 97498327 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr7:97498327G>C uc003uot.3 - 3 648 c.142C>G c.(142-144)CAC>GAC p.H48D ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.H48D|ASNS_uc003uov.3_Missense_Mutation_p.H48D|ASNS_uc011kio.1_Missense_Mutation_p.H27D|ASNS_uc003uow.3_Missense_Mutation_p.H27D|ASNS_uc003uox.3_Intron NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 48 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCCAACCGGTGAAATCCAAAG 0.448 NA 13 49 0 0 0 0 LAMB4 22798 broad.mit.edu 37 7 107696162 107696162 + Missense_Mutation SNP C C A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr7:107696162C>A uc010ljo.1 - 25 3754 c.3670G>T c.(3670-3672)GTG>TTG p.V1224L LAMB4_uc003vey.2_Missense_Mutation_p.V1224L|LAMB4_uc010ljp.1_Missense_Mutation_p.V193L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1224 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ATTTCAGACACGTTCCCTCTG 0.423 NA 16 62 6.32e-08 6.83e-08 1 0 LAMB4 22798 broad.mit.edu 37 7 107696408 107696408 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr7:107696408G>A uc010ljo.1 - 25 3508 c.3424C>T c.(3424-3426)CCA>TCA p.P1142S LAMB4_uc003vey.2_Missense_Mutation_p.P1142S|LAMB4_uc010ljp.1_Missense_Mutation_p.P111S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1142 Laminin EGF-like 13. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CCTGTGTCTGGATCACAGATG 0.532 NA 8 36 0 0 0 0 FAM110B 90362 broad.mit.edu 37 8 59059573 59059573 + Missense_Mutation SNP G G T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr8:59059573G>T uc003xtj.1 + 5 1664 c.784G>T c.(784-786)GAC>TAC p.D262Y NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 262 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GTCTAAGTCAGACTTGAGTGA 0.562 NA 13 94 9.31e-06 9.95e-06 1 0 MAPK15 225689 broad.mit.edu 37 8 144802878 144802878 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr8:144802878G>A uc003yzj.2 + 9 826 c.785G>A c.(784-786)CGA>CAA p.R262Q NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 262 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CACAGGCCACGACAGACGCTG 0.662 NA 3 28 0 0 0 0 EXOSC4 54512 broad.mit.edu 37 8 145135305 145135305 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr8:145135305C>T uc003zau.2 + 3 649 c.539C>T c.(538-540)GCT>GTT p.A180V GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 180 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGGAAGCAGCTGGTGGCCCC 0.657 NA 7 64 0 0 0 0 SMARCA2 6595 broad.mit.edu 37 9 2086833 2086833 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:2086833G>A uc003zhc.2 + 18 2630 c.2531G>A c.(2530-2532)CGG>CAG p.R844Q SMARCA2_uc003zhd.2_Missense_Mutation_p.R844Q|SMARCA2_uc010mha.2_Missense_Mutation_p.R835Q NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 844 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TTATAGATTCGGTGGAAATAC 0.468 NA 15 56 0 0 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88925620 88925620 + Splice_Site SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:88925620C>T uc004aoq.2 - 18 3593 c.3378_splice c.e18+1 p.L1126_splice ZCCHC6_uc010mqe.2_Splice_Site_p.L64_splice|ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_Splice_Site|ZCCHC6_uc004aos.2_Splice_Site|ZCCHC6_uc004aot.2_Splice_Site_p.L890_splice|ZCCHC6_uc004aou.2_Splice_Site_p.L1126_splice NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 AAAAATCTTACCAATGTGTTA 0.353 NA 4 21 0 0 0 0 FAM22F 54754 broad.mit.edu 37 9 97080990 97080990 + Silent SNP A A T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:97080990A>T uc004aup.1 - 7 2049 c.2028T>A c.(2026-2028)CTT>CTA p.L676L NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 676 0 Acute lymphoblastic leukemia(62;0.136) ATGGAGACTGAAGAGCTCCCT 0.612 NA 5 15 0 0 0 0 LPPR1 54886 broad.mit.edu 37 9 104071492 104071492 + Splice_Site SNP G G T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:104071492G>T uc004bbb.2 + 5 785 c.386_splice c.e5-1 p.G129_splice LPPR1_uc011lvi.1_Splice_Site_p.G105_splice|LPPR1_uc004bbc.2_Splice_Site_p.G129_splice|LPPR1_uc010mtc.2_Splice_Site_p.G113_splice NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 integral to membrane catalytic activity 0 TCTTCTTATAGGGGTGTTTGC 0.413 NA 11 99 6.4e-05 6.75e-05 1 0 LPPR1 54886 broad.mit.edu 37 9 104071519 104071519 + Missense_Mutation SNP A A T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:104071519A>T uc004bbb.2 + 5 811 c.412A>T c.(412-414)ACT>TCT p.T138S LPPR1_uc011lvi.1_Missense_Mutation_p.T114S|LPPR1_uc004bbc.2_Missense_Mutation_p.T138S|LPPR1_uc010mtc.2_Missense_Mutation_p.T122S NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 138 Helical; (Potential). integral to membrane catalytic activity 0 ACTTTTTGCTACTGACATTTT 0.418 NA 13 92 0 0 0 0 OR1N1 138883 broad.mit.edu 37 9 125289435 125289435 + Silent SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:125289435G>A uc004bmn.1 - 1 138 c.138C>T c.(136-138)GCC>GCT p.A46A NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 CAGAGCCAATGGCCAGGATGA 0.502 NA 5 36 0 0 0 0 SURF2 6835 broad.mit.edu 37 9 136226921 136226921 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:136226921C>T uc004cdi.2 + 4 481 c.433C>T c.(433-435)CGC>TGC p.R145C NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 145 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) TGACGGGCCTCGCCCGCGGGA 0.627 NA 4 15 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401405 139401405 + Missense_Mutation SNP C C T rs112900950 TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr9:139401405C>T uc004chz.2 - 23 3664 c.3664G>A c.(3664-3666)GTG>ATG p.V1222M NOTCH1_uc004cia.1_Missense_Mutation_p.V452M NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1222 Extracellular (Potential).|EGF-like 32; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGTCGTCCACGTTGATCTCA 0.672 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 4 13 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32613911 32613911 + Missense_Mutation SNP C C G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chrX:32613911C>G uc004dda.1 - 13 1809 c.1565G>C c.(1564-1566)GGA>GCA p.G522A DMD_uc004dcz.2_Missense_Mutation_p.G399A|DMD_uc004dcy.1_Missense_Mutation_p.G518A|DMD_uc004ddb.1_Missense_Mutation_p.G514A|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G514A|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 522 Spectrin 2. Missing (in BMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCGTGATCTCCACTAGATTC 0.353 NA 7 23 0 0 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760090 119760090 + Missense_Mutation SNP G G A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chrX:119760090G>A uc004esy.2 - 3 1279 c.932C>T c.(931-933)CCT>CTT p.P311L C1GALT1C1_uc004esz.2_Missense_Mutation_p.P311L NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 311 Lumenal (Potential). integral to membrane 0 ACCATTTGGAGGTAAGAAAAC 0.378 NA 16 34 0 0 0 0 MBD6 114785 broad.mit.edu 37 12 57920022 57920022 + Frame_Shift_Del DEL C C - TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr12:57920022delC uc001soj.1 + 6 1495 c.1271delC c.(1270-1272)TCCfs p.S424fs MBD6_uc001sok.1_Frame_Shift_Del_p.S291fs|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 424 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CCTGGCCCTTCCCACTCTGAT 0.627 NA 12 102 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187557335 187557336 + Frame_Shift_Ins INS - - A TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcb6e29c-864d-483f-a848-8a61202d9516 06bd7b3a-430d-4d4f-8846-e7997440d241 g.chr4:187557335_187557336insA uc003izf.2 - 6 4214_4215 c.4026_4027insT c.(4024-4029)CATATTfs p.H1342fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1342_1343 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATCCATTCAATATGGAGTCTGG 0.436 NA HNSCC(5;0.00058) 8 40 --- --- --- --- NA NA NA NA