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 filter SCNN1D 6339 broad.mit.edu 37 1 1226035 1226035 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:1226035C>G uc001adu.1 + 14 2010 c.1386C>G c.(1384-1386)CTC>CTG p.L462L SCNN1D_uc001adt.1_Silent_p.L626L|SCNN1D_uc001adw.2_Silent_p.L528L|SCNN1D_uc001adx.2_Silent_p.L251L|SCNN1D_uc001adv.2_Silent_p.L462L NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CATTCAAGCTCTCCACTGGGA 0.652 17 31 --- --- --- --- PASS PRAMEF2 65122 broad.mit.edu 37 1 12921089 12921089 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:12921089C>A uc001aum.1 + 4 967 c.880C>A c.(880-882)CCC>ACC p.P294T NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 294 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCAGAACCCCTTGGAGAA 0.458 4 62 --- --- --- --- PASS SLC30A2 7780 broad.mit.edu 37 1 26371487 26371487 + Splice_Site SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:26371487C>G uc001blh.1 - 2 488 c.271_splice c.e2+1 p.E91_splice SLC30A2_uc001blg.1_Splice_Site_p.G91_splice NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) AAAGTGCTTACCAACGACTTC 0.423 71 28 --- --- --- --- PASS UBXN11 91544 broad.mit.edu 37 1 26611997 26611997 + Silent SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:26611997G>C uc001blw.2 - 11 1083 c.810C>G c.(808-810)CCC>CCG p.P270P UBXN11_uc001blz.1_Silent_p.P237P|UBXN11_uc001blv.2_Silent_p.P232P|UBXN11_uc001bly.2_Silent_p.P150P|UBXN11_uc001blx.2_Silent_p.P28P|UBXN11_uc001bma.2_Silent_p.P237P|UBXN11_uc001bmb.1_Silent_p.P270P|UBXN11_uc010ofb.1_Silent_p.P195P|UBXN11_uc010ofc.1_Silent_p.P112P NM_183008 NP_892120 Q5T124 UBX11_HUMAN socius isoform 2 270 SEP. cytoplasm|cytoskeleton ovary(1) 1 GGAGCTCTGAGGGAAAGAAGC 0.582 OREG0013265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- PASS ZMPSTE24 10269 broad.mit.edu 37 1 40723960 40723960 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:40723960C>T uc001cfg.2 + 1 228 c.17C>T c.(16-18)TCG>TTG p.S6L uc001cff.2_5'Flank NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 6 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATGTGGGCATCGCTGGACGCT 0.632 28 89 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44070639 44070639 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:44070639C>G uc001cjr.2 + 17 3443 c.3103C>G c.(3103-3105)CCC>GCC p.P1035A PTPRF_uc001cjs.2_Missense_Mutation_p.P1026A|PTPRF_uc001cju.2_Missense_Mutation_p.P413A|PTPRF_uc009vwt.2_Missense_Mutation_p.P595A|PTPRF_uc001cjv.2_Missense_Mutation_p.P495A|PTPRF_uc001cjw.2_Missense_Mutation_p.P261A NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1035 Extracellular (Potential).|Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGGGAGGTTCCCGACTCCTA 0.577 19 116 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45671861 45671861 + Silent SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:45671861G>T uc001cnd.2 - 1 390 c.162C>A c.(160-162)CTC>CTA p.L54L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 54 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GGCGGGCCCCGAGGACCAGGC 0.716 5 12 --- --- --- --- PASS NRD1 4898 broad.mit.edu 37 1 52266334 52266334 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:52266334C>T uc001ctc.3 - 23 2861 c.2539G>A c.(2539-2541)GAC>AAC p.D847N NRD1_uc009vzb.2_Missense_Mutation_p.D542N|NRD1_uc001ctd.3_Missense_Mutation_p.D779N|NRD1_uc001cte.2_Missense_Mutation_p.D715N|NRD1_uc001ctf.2_Missense_Mutation_p.D779N|NRD1_uc010ong.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 778 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 GCTAAGTAGTCAATAATGAGC 0.383 27 55 --- --- --- --- PASS JAK1 3716 broad.mit.edu 37 1 65339169 65339169 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:65339169C>A uc001dbu.1 - 5 616 c.367G>T c.(367-369)GAG>TAG p.E123* JAK1_uc009wam.1_Nonsense_Mutation_p.E111*|JAK1_uc001dbv.2_RNA NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 123 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) ACTGACTGCTCATTGTCGTTG 0.493 Mis ALL 19 43 --- --- --- --- PASS GNG12 55970 broad.mit.edu 37 1 68171223 68171223 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:68171223C>A uc001dea.1 - 4 322 c.130G>T c.(130-132)GAG>TAG p.E44* NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN G-protein gamma-12 subunit precursor 44 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 GCATGTTCCTCACAGTAGGAC 0.398 21 40 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103364270 103364270 + Silent SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:103364270A>C uc001dul.2 - 56 4518 c.4200T>G c.(4198-4200)CCT>CCG p.P1400P COL11A1_uc001duk.2_Silent_p.P596P|COL11A1_uc001dum.2_Silent_p.P1412P|COL11A1_uc001dun.2_Silent_p.P1361P|COL11A1_uc009weh.2_Silent_p.P1284P NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1400 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTTTCCTGCAGGTCCCTGAG 0.468 17 44 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103379198 103379198 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:103379198G>T uc001dul.2 - 53 4345 c.4027C>A c.(4027-4029)CAA>AAA p.Q1343K COL11A1_uc001duk.2_Missense_Mutation_p.Q539K|COL11A1_uc001dum.2_Missense_Mutation_p.Q1355K|COL11A1_uc001dun.2_Missense_Mutation_p.Q1304K|COL11A1_uc009weh.2_Missense_Mutation_p.Q1227K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1343 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCACCGGTTGACCAGGATCT 0.343 52 75 --- --- --- --- PASS KCND3 3752 broad.mit.edu 37 1 112524921 112524921 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:112524921T>C uc001ebu.1 - 2 908 c.428A>G c.(427-429)AAC>AGC p.N143S KCND3_uc001ebv.1_Missense_Mutation_p.N143S NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 143 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CCGCTCGGCGTTCTCCCTCTT 0.622 28 37 --- --- --- --- PASS HMGCS2 3158 broad.mit.edu 37 1 120296009 120296009 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:120296009G>T uc001eid.2 - 7 1239 c.1188C>A c.(1186-1188)CAC>CAA p.H396Q HMGCS2_uc010oxj.1_Missense_Mutation_p.H354Q|HMGCS2_uc001eie.2_Missense_Mutation_p.H304Q NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 396 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGGCAGAGTGGCTGTGGGGAA 0.328 8 12 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886274 144886274 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:144886274G>C uc001elw.3 - 23 3251 c.2960C>G c.(2959-2961)TCT>TGT p.S987C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1053C|PDE4DIP_uc001elv.3_Translation_Start_Site NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 987 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGGGAAAAAGATGGGTTCTG 0.478 T PDGFRB MPD 27 284 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149904192 149904192 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:149904192G>A uc001etl.3 - 11 1267 c.1016C>T c.(1015-1017)TCA>TTA p.S339L MTMR11_uc001etm.1_Missense_Mutation_p.S267L|MTMR11_uc010pbm.1_Missense_Mutation_p.S311L|MTMR11_uc010pbn.1_Missense_Mutation_p.S181L NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 339 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TTCCAGGGCTGAAAGCCATTT 0.443 37 156 --- --- --- --- PASS RORC 6097 broad.mit.edu 37 1 151787699 151787699 + Silent SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:151787699A>T uc001ezh.2 - 5 609 c.501T>A c.(499-501)CCT>CCA p.P167P RORC_uc001ezg.2_Silent_p.P146P|RORC_uc010pdo.1_Silent_p.P221P|RORC_uc010pdp.1_Silent_p.P167P NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 167 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CAGAAGCCTCAGGCAGGTCAG 0.647 3 49 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285056 152285056 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:152285056C>T uc001ezu.1 - 3 2342 c.2306G>A c.(2305-2307)GGT>GAT p.G769D uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 769 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGATGGTGACCAGCCTGTCC 0.567 Ichthyosis 207 277 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152323772 152323772 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:152323772G>C uc001ezw.3 - 3 6563 c.6490C>G c.(6490-6492)CAG>GAG p.Q2164E uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2164 Filaggrin 10. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGGACTGTCCATGACCA 0.502 171 255 --- --- --- --- PASS SLC39A1 27173 broad.mit.edu 37 1 153935025 153935025 + Missense_Mutation SNP C T T rs141955044 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:153935025C>T uc001fdh.2 - 2 336 c.167G>A c.(166-168)GGA>GAA p.G56E SLC39A1_uc001fdi.2_Missense_Mutation_p.G56E|SLC39A1_uc001fdj.2_Missense_Mutation_p.G56E|SLC39A1_uc001fdk.2_Missense_Mutation_p.G56E|SLC39A1_uc010pee.1_5'UTR|SLC39A1_uc001fdl.2_Missense_Mutation_p.G56E NM_014437 NP_055252 Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), 56 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) ATGGTTAGCTCCTGGCCGGCG 0.632 8 20 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155730294 155730294 + Nonsense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:155730294G>A uc001flz.2 - 24 5147 c.5050C>T c.(5050-5052)CAG>TAG p.Q1684* GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.Q1684*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q1684*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q1684*|GON4L_uc001fmb.3_Nonsense_Mutation_p.Q880* NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1684 PAH 1. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTCAACAGCTGAGGCCAGTCT 0.468 22 95 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175317 159175317 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:159175317T>C uc001fto.2 + 2 328 c.88T>C c.(88-90)TAT>CAT p.Y30H DARC_uc001ftp.3_Missense_Mutation_p.Y32H NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 30 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GAATTCTTCCTATGGTGTGAA 0.542 22 62 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160109762 160109762 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:160109762C>T uc001fvc.2 + 22 3154 c.3022C>T c.(3022-3024)CGG>TGG p.R1008W ATP1A2_uc001fvd.2_Missense_Mutation_p.R727W NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 1008 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CATCCTGCGGCGGTATCCTGG 0.582 57 85 --- --- --- --- PASS TBX19 9095 broad.mit.edu 37 1 168260473 168260473 + Silent SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:168260473T>C uc001gfl.2 + 2 330 c.279T>C c.(277-279)TTT>TTC p.F93F TBX19_uc001gfj.3_Silent_p.F24F NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 93 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TGCTGGACTTTGTCCCTACGG 0.552 87 125 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175097272 175097272 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:175097272C>A uc001gkl.1 + 14 3263 c.3150C>A c.(3148-3150)AGC>AGA p.S1050R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1050 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTCGCCGGAGCAGAAATGTAT 0.557 20 42 --- --- --- --- PASS DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:182812436T>G uc001gpr.2 + 3 282 c.119T>G c.(118-120)GTG>GGG p.V40G DHX9_uc001gps.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 AAGGTTCAGGTGGAAGGTTAT 0.333 8 43 --- --- --- --- PASS DHX9 1660 broad.mit.edu 37 1 182847165 182847165 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:182847165G>A uc001gpr.2 + 20 2371 c.2208G>A c.(2206-2208)GTG>GTA p.V736V DHX9_uc001gps.2_Silent_p.V522V|DHX9_uc001gpt.2_Silent_p.V15V NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 736 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 GGCAGAAAGTGAAACTCTTCA 0.403 9 40 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200183003 200183003 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:200183003C>A uc009wzi.1 + 1 348 c.312C>A c.(310-312)TAC>TAA p.Y104* NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 104 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) CCAACAGGTACTTCAACCCAA 0.557 71 121 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203026006 203026006 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:203026006A>G uc001gyz.2 + 6 1410 c.817A>G c.(817-819)ATT>GTT p.I273V PPFIA4_uc009xaj.2_Missense_Mutation_p.I904V|PPFIA4_uc010pqf.1_Missense_Mutation_p.I486V|PPFIA4_uc001gza.2_Missense_Mutation_p.I273V|PPFIA4_uc001gzb.1_5'UTR NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 273 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CAAGTCGTCCATTGGCCGCCT 0.612 22 50 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204379802 204379802 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:204379802C>A uc001hav.3 - 1 1143 c.738G>T c.(736-738)GAG>GAT p.E246D NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 246 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) AGCCGACTACCTCGCTATTTC 0.522 22 147 --- --- --- --- PASS TMEM206 55248 broad.mit.edu 37 1 212538573 212538573 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:212538573G>A uc001hjc.3 - 8 1205 c.1037C>T c.(1036-1038)ACG>ATG p.T346M TMEM206_uc010pte.1_Missense_Mutation_p.T407M NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 346 Cytoplasmic (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TATGTGGCTCGTTGCCTGACC 0.413 9 180 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214567092 214567092 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:214567092G>T uc001hkk.1 - 10 1146 c.875C>A c.(874-876)TCT>TAT p.S292Y PTPN14_uc010pty.1_Missense_Mutation_p.S193Y NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 292 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) AAACAACCGAGAAATATACTT 0.333 24 79 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228559483 228559483 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:228559483C>T uc009xez.1 + 94 21048 c.21004C>T c.(21004-21006)CAG>TAG p.Q7002* OBSCN_uc001hsr.1_Nonsense_Mutation_p.Q1631* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7002 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGGCACCCTCAGGGCTCCAA 0.706 14 48 --- --- --- --- PASS KIAA1383 54627 broad.mit.edu 37 1 232942054 232942054 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:232942054G>C uc001hvh.2 + 1 1417 c.1285G>C c.(1285-1287)GAG>CAG p.E429Q NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 287 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CTCCCTAAATGAGGAAGTCAC 0.448 14 274 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237732556 237732556 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:237732556G>T uc001hyl.1 + 29 3655 c.3535G>T c.(3535-3537)GGT>TGT p.G1179C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1179 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACACTGAATGGTGAAATCCT 0.448 13 31 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237732557 237732557 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:237732557G>T uc001hyl.1 + 29 3656 c.3536G>T c.(3535-3537)GGT>GTT p.G1179V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1179 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACTGAATGGTGAAATCCTT 0.443 13 31 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237935345 237935345 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:237935345A>G uc001hyl.1 + 86 11711 c.11591A>G c.(11590-11592)AAT>AGT p.N3864S RYR2_uc010pya.1_Missense_Mutation_p.N279S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3864 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGACTGGCAATAATACAACT 0.333 3 8 --- --- --- --- PASS OPN3 23596 broad.mit.edu 37 1 241761284 241761284 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:241761284C>G uc001hza.2 - 3 854 c.709G>C c.(709-711)GAT>CAT p.D237H OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 237 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GTCTGAAGATCTTCCACACAA 0.353 13 22 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242042219 242042219 + Silent SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:242042219T>C uc001hzh.2 + 13 2223 c.1683T>C c.(1681-1683)GAT>GAC p.D561D EXO1_uc001hzi.2_Silent_p.D561D|EXO1_uc001hzj.2_Silent_p.D561D|EXO1_uc009xgq.2_Silent_p.D560D NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 561 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ATTCAAGTGATGACATTCCGA 0.403 Direct_reversal_of_damage|Editing_and_processing_nucleases 37 47 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247006029 247006029 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:247006029C>A uc001ibu.1 - 34 6582 c.6575G>T c.(6574-6576)CGA>CTA p.R2192L AHCTF1_uc001ibv.1_Missense_Mutation_p.R2201L|AHCTF1_uc009xgs.1_Intron NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 2192 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CGTCCTGATTCGTTTCGCTTT 0.348 8 240 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752529 247752529 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr1:247752529C>G uc010pyy.1 + 1 868 c.868C>G c.(868-870)CCT>GCT p.P290A NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATGCTTAACCCTCTTATTTA 0.348 56 141 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7023640 7023640 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:7023640G>A uc002qyp.1 + 2 621 c.485G>A c.(484-486)CGG>CAG p.R162Q NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 162 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) AGCCTGATCCGGGAGAGGTGG 0.488 25 30 --- --- --- --- PASS YWHAQ 10971 broad.mit.edu 37 2 9770387 9770387 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:9770387G>C uc002qzw.2 - 1 359 c.195C>G c.(193-195)ATC>ATG p.I65M YWHAQ_uc002qzx.2_Missense_Mutation_p.I65M NM_006826 NP_006817 P27348 1433T_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 65 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) TCTTCTGCTCGATGCTAGAGA 0.607 25 96 --- --- --- --- PASS LPIN1 23175 broad.mit.edu 37 2 11922351 11922351 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:11922351G>C uc010yjn.1 + 8 1148 c.874G>C c.(874-876)GAG>CAG p.E292Q LPIN1_uc010yjm.1_Missense_Mutation_p.E377Q|LPIN1_uc002rbt.2_Missense_Mutation_p.E292Q|LPIN1_uc002rbs.2_Missense_Mutation_p.E328Q NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 292 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CAAGATGAAAGAGTCCAGCCC 0.448 10 57 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20137623 20137623 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:20137623G>A uc002rdi.2 - 20 2289 c.2181C>T c.(2179-2181)GGC>GGT p.G727G WDR35_uc002rdj.2_Silent_p.G716G|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.G292G|WDR35_uc002rdk.3_Silent_p.G292G NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 727 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAACTTAATGCCTTGGTAAT 0.448 102 168 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21224842 21224842 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:21224842C>T uc002red.2 - 29 13580 c.13452G>A c.(13450-13452)ACG>ACA p.T4484T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4484 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTATTTTCTTCGTCGCAATGG 0.378 5 156 --- --- --- --- PASS C2orf28 51374 broad.mit.edu 37 2 27439399 27439399 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:27439399C>T uc002rjf.2 + 6 834 c.661C>T c.(661-663)CCT>TCT p.P221S C2orf28_uc002rjg.2_Missense_Mutation_p.P108S|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank NM_080592 NP_542159 Q6UW56 APR3_HUMAN apoptosis related protein 3 isoform b 166 EGF-like.|Extracellular (Potential). integral to membrane|plasma membrane skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAAATGTGTCCTGAGAATGG 0.403 66 272 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71708055 71708055 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:71708055C>T uc002sie.2 + 2 507 c.131C>T c.(130-132)CCT>CTT p.P44L DYSF_uc010feg.2_Missense_Mutation_p.P44L|DYSF_uc010feh.2_Missense_Mutation_p.P44L|DYSF_uc002sig.3_Missense_Mutation_p.P44L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P44L|DYSF_uc010fef.2_Missense_Mutation_p.P44L|DYSF_uc010fei.2_Missense_Mutation_p.P44L|DYSF_uc010fek.2_Missense_Mutation_p.P45L|DYSF_uc010fej.2_Missense_Mutation_p.P45L|DYSF_uc010fel.2_Missense_Mutation_p.P45L|DYSF_uc010feo.2_Missense_Mutation_p.P45L|DYSF_uc010fem.2_Missense_Mutation_p.P45L|DYSF_uc010fen.2_Missense_Mutation_p.P45L|DYSF_uc002sif.2_Missense_Mutation_p.P45L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 44 Cytoplasmic (Potential).|C2 1. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AGCGTGAACCCTGTATGGAAT 0.502 26 47 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109086545 109086545 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:109086545G>A uc002tec.2 + 6 914 c.760G>A c.(760-762)GAG>AAG p.E254K GCC2_uc002ted.2_Missense_Mutation_p.E153K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 254 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AGAGGTGAAAGAGTTGATGTG 0.353 10 202 --- --- --- --- PASS GPR148 344561 broad.mit.edu 37 2 131487737 131487737 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:131487737G>T uc002trv.1 + 1 1015 c.1013G>T c.(1012-1014)AGG>ATG p.R338M NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 338 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity p.R338R(1) skin(1) 1 Colorectal(110;0.1) CTCCCATCCAGGAGGCACCAG 0.532 13 18 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021608 132021608 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:132021608C>A uc002tsn.2 + 15 2632 c.2580C>A c.(2578-2580)ACC>ACA p.T860T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T460T|POTEE_uc002tsl.2_Silent_p.T442T|POTEE_uc010fmy.1_Silent_p.T324T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 860 Actin-like. ATP binding 0 ACGGGGTCACCCACACTGTGC 0.617 6 119 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141232707 141232707 + Missense_Mutation SNP C A A rs77794732 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:141232707C>A uc002tvj.1 - 60 10597 c.9625G>T c.(9625-9627)GTC>TTC p.V3209F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3209 Extracellular (Potential).|LDL-receptor class B 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGACCAACCTTTGTGTCTA 0.289 TSP Lung(27;0.18) 18 80 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152276711 152276711 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:152276711G>C uc002txm.2 + 7 641 c.511G>C c.(511-513)GAA>CAA p.E171Q RIF1_uc002txl.2_Missense_Mutation_p.E171Q|RIF1_uc010fnv.1_Missense_Mutation_p.E135Q|RIF1_uc002txn.2_Missense_Mutation_p.E171Q|RIF1_uc002txo.2_Missense_Mutation_p.E171Q|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 171 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TAGGCTAATTGAACAAGCCCC 0.393 10 27 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152473910 152473910 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:152473910A>C uc010fnx.2 - 71 10611 c.10420T>G c.(10420-10422)TTA>GTA p.L3474V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3474 Nebulin 95. 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) AGTTTGGCTAACATGATTTCT 0.358 2 6 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160284489 160284489 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:160284489C>G uc002uao.2 - 13 2781 c.2429G>C c.(2428-2430)AGA>ACA p.R810T BAZ2B_uc002uap.2_Intron|BAZ2B_uc002uaq.1_Missense_Mutation_p.R640T|BAZ2B_uc002uar.1_Missense_Mutation_p.R383T NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 810 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GTCACCCACTCTTATTTTTGC 0.353 45 96 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170044630 170044630 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:170044630C>T uc002ues.2 - 49 9391 c.9178G>A c.(9178-9180)GGA>AGA p.G3060R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3060 LDL-receptor class A 24.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCATCAGATCCGTCTCCACAG 0.502 48 100 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170090097 170090097 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:170090097A>G uc002ues.2 - 30 5135 c.4922T>C c.(4921-4923)ATT>ACT p.I1641T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1641 LDL-receptor class B 13.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGCCGTATAATCTGTGAGGC 0.488 31 36 --- --- --- --- PASS C2orf77 129881 broad.mit.edu 37 2 170537574 170537574 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:170537574C>G uc002ufe.2 - 2 331 c.237G>C c.(235-237)AAG>AAC p.K79N NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 79 Potential. 0 GCATTTCTTTCTTTGCCTTTC 0.418 45 150 --- --- --- --- PASS DCAF17 80067 broad.mit.edu 37 2 172309682 172309682 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:172309682C>G uc002ugx.2 + 6 815 c.586C>G c.(586-588)CTA>GTA p.L196V DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.L196V|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 196 Helical; (Potential). CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 GTTCCGAGTTCTACCTTTTTC 0.348 22 82 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179468797 179468797 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:179468797C>G uc010zfg.1 - 231 47137 c.46913G>C c.(46912-46914)AGA>ACA p.R15638T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9333T|TTN_uc010zfi.1_Missense_Mutation_p.R9266T|TTN_uc010zfj.1_Missense_Mutation_p.R9141T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16565 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) TCCCTCTTCTCTTTTCTCCAG 0.478 6 385 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605892 179605892 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:179605892G>A uc010zfh.1 - 46 11779 c.11555C>T c.(11554-11556)GCA>GTA p.A3852V TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.A3785V|TTN_uc010zfj.1_Missense_Mutation_p.A3660V|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTCTGCTGCACAGGTGGA 0.502 10 162 --- --- --- --- PASS CALCRL 10203 broad.mit.edu 37 2 188223976 188223976 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:188223976T>C uc002upv.3 - 11 1353 c.805A>G c.(805-807)ATA>GTA p.I269V CALCRL_uc010frt.2_Missense_Mutation_p.I269V NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 269 Helical; Name=4; (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ATGGCATGTATACAAGCAGGA 0.239 8 7 --- --- --- --- PASS FAM126B 285172 broad.mit.edu 37 2 201853065 201853065 + Missense_Mutation SNP T G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:201853065T>G uc002uws.3 - 11 1099 c.911A>C c.(910-912)GAA>GCA p.E304A FAM126B_uc002uwu.2_Missense_Mutation_p.E222A|FAM126B_uc002uwv.2_Missense_Mutation_p.E304A NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 304 intracellular ovary(1) 1 TGGAGTGACTTCAACTTTAAG 0.413 61 82 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207460864 207460864 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:207460864C>A uc002vbq.2 + 24 2560 c.2337C>A c.(2335-2337)CCC>CCA p.P779P ADAM23_uc010ziv.1_Intron NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 779 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACCTTCACCCCCCCAAGGATG 0.448 10 19 --- --- --- --- PASS TNS1 7145 broad.mit.edu 37 2 218713626 218713626 + Silent SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:218713626G>T uc002vgt.2 - 17 1637 c.1239C>A c.(1237-1239)ACC>ACA p.T413T TNS1_uc002vgr.2_Silent_p.T413T|TNS1_uc002vgs.2_Silent_p.T413T|TNS1_uc010zjv.1_Silent_p.T413T|TNS1_uc010fvj.1_Silent_p.T481T|TNS1_uc010fvk.1_Silent_p.T538T|TNS1_uc010fvi.1_Silent_p.T100T NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 413 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGTCGGTCTTGGTGGAGGCTG 0.642 18 84 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220156190 220156190 + Splice_Site SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:220156190A>T uc002vkz.2 - 20 2818 c.2729_splice c.e20+1 p.S910_splice PTPRN_uc010zlc.1_Splice_Site_p.S820_splice|PTPRN_uc002vla.2_Splice_Site_p.S881_splice NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CTCTCCACCCACCTGCAGTGC 0.547 19 24 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220357321 220357321 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:220357321G>A uc010fwg.2 + 41 9617 c.9617G>A c.(9616-9618)CGG>CAG p.R3206Q NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 3206 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGCAGGAGCCGGCCCTCCCTG 0.522 6 105 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230724207 230724207 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:230724207C>T uc002vpw.1 - 3 291 c.182G>A c.(181-183)GGG>GAG p.G61E TRIP12_uc002vpx.1_Missense_Mutation_p.G103E|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.G61E NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 61 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGGCACCTGCCCCGTTTTTTG 0.453 7 178 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233408046 233408046 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:233408046C>A uc002vsx.1 + 8 888 c.867C>A c.(865-867)TTC>TTA p.F289L CHRNG_uc010fye.1_Missense_Mutation_p.F237L NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 289 Helical; (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TCTTCCTCTTCCTTGTGGCCA 0.582 8 32 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233409214 233409214 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:233409214C>G uc002vsx.1 + 10 1194 c.1173C>G c.(1171-1173)CTC>CTG p.L391L CHRNG_uc010fye.1_Silent_p.L339L NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 391 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AGGTGGCCCTCTGCCTGCCTC 0.662 22 84 --- --- --- --- PASS NGEF 25791 broad.mit.edu 37 2 233785170 233785170 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:233785170C>A uc002vts.2 - 5 900 c.652G>T c.(652-654)GAA>TAA p.E218* NGEF_uc010fyg.1_Nonsense_Mutation_p.E126*|NGEF_uc002vtt.2_Nonsense_Mutation_p.E126* NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 218 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) tcttcttcttcctcctccGGG 0.458 19 48 --- --- --- --- PASS UGT1A5 54579 broad.mit.edu 37 2 234622280 234622280 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:234622280C>G uc002vuw.2 + 1 643 c.643C>G c.(643-645)CTC>GTC p.L215V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.L215V NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 215 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CAAGAACATGCTCTACCCTCT 0.483 4 220 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18436276 18436276 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:18436276G>A uc003cbh.2 - 7 2619 c.884C>T c.(883-885)TCT>TTT p.S295F SATB1_uc003cbi.2_Missense_Mutation_p.S295F|SATB1_uc003cbj.2_Missense_Mutation_p.S295F NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 295 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TGTCCGGACAGAGGGCTGGCT 0.582 15 75 --- --- --- --- PASS TLR9 54106 broad.mit.edu 37 3 52257047 52257047 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:52257047C>T uc003dda.1 - 2 1919 c.1285G>A c.(1285-1287)GGA>AGA p.G429R TLR9_uc003ddb.2_Missense_Mutation_p.G526R NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 429 LRR 14.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCCGAAGCTCCGCTGATGCGG 0.642 7 122 --- --- --- --- PASS CCDC66 285331 broad.mit.edu 37 3 56600985 56600985 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:56600985G>C uc003dhz.2 + 6 805 c.718G>C c.(718-720)GAA>CAA p.E240Q CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E206Q|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E240Q NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 240 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TAGAGAGAATGAATGGAAACC 0.363 26 41 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64527226 64527226 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:64527226C>T uc003dmg.2 - 34 5300 c.5268G>A c.(5266-5268)CTG>CTA p.L1756L ADAMTS9_uc011bfo.1_Silent_p.L1728L|ADAMTS9_uc011bfp.1_Silent_p.L667L NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1756 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTCTAATCATCAGGAAATATT 0.388 35 86 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433635 73433635 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:73433635G>A uc003dpl.1 - 10 2178 c.2082C>T c.(2080-2082)AGC>AGT p.S694S PDZRN3_uc011bgh.1_Silent_p.S351S|PDZRN3_uc010hoe.1_Silent_p.S392S|PDZRN3_uc011bgf.1_Silent_p.S411S|PDZRN3_uc011bgg.1_Silent_p.S414S NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 694 Potential. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCAGCTCGATGCTGCGCAGCT 0.632 23 11 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89480480 89480480 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:89480480G>A uc003dqy.2 + 13 2542 c.2317G>A c.(2317-2319)GAT>AAT p.D773N EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 773 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGTCCTGGAGGATGACCCAGA 0.408 TSP Lung(6;0.00050) 6 11 --- --- --- --- PASS FAM55C 91775 broad.mit.edu 37 3 101540528 101540528 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:101540528C>G uc003dvn.2 + 8 2047 c.1410C>G c.(1408-1410)CTC>CTG p.L470L FAM55C_uc010hpn.2_Silent_p.L470L NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 470 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TGGTTCGGCTCCTCGATCGAA 0.567 19 175 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111603110 111603110 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:111603110C>G uc010hqa.2 + 2 597 c.186C>G c.(184-186)CTC>CTG p.L62L PHLDB2_uc003dyc.2_Silent_p.L89L|PHLDB2_uc003dyd.2_Silent_p.L62L|PHLDB2_uc003dyg.2_Silent_p.L62L|PHLDB2_uc003dyh.2_Silent_p.L62L|PHLDB2_uc003dye.3_Silent_p.L62L|PHLDB2_uc003dyf.3_Silent_p.L62L NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 62 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 ATTTAACCCTCTCACAACCTG 0.478 11 447 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395016 115395016 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:115395016G>A uc003ebq.2 + 2 573 c.187G>A c.(187-189)GAG>AAG p.E63K GAP43_uc003ebr.2_Missense_Mutation_p.E99K NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 63 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) CCAAGCTGCTGAGGCTGAAGC 0.517 9 130 --- --- --- --- PASS SLC15A2 6565 broad.mit.edu 37 3 121649733 121649733 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:121649733G>C uc003eep.2 + 18 1753 c.1600G>C c.(1600-1602)GAT>CAT p.D534H SLC15A2_uc011bjn.1_Missense_Mutation_p.D503H NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 534 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CCTGAGTACAGATACCTCTCT 0.383 12 121 --- --- --- --- PASS PARP15 165631 broad.mit.edu 37 3 122354848 122354848 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:122354848C>G uc003efm.2 + 12 2004 c.1938C>G c.(1936-1938)CTC>CTG p.L646L PARP15_uc003efn.2_Silent_p.L451L|PARP15_uc003efo.1_Silent_p.L393L|PARP15_uc003efp.1_Silent_p.L412L|PARP15_uc011bjt.1_Silent_p.L343L NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 624 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) CCACAGATCTCTTTGACTCAG 0.433 5 165 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125855651 125855651 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:125855651C>G uc003eim.1 - 11 1490 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.E333Q|ALDH1L1_uc003eio.2_Missense_Mutation_p.E136Q|ALDH1L1_uc010hsf.1_Missense_Mutation_p.E460Q NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 434 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTGGCGCCCTCGGCATCCACG 0.592 3 20 --- --- --- --- PASS UROC1 131669 broad.mit.edu 37 3 126218239 126218239 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:126218239C>T uc003eiz.1 - 13 1289 c.1257G>A c.(1255-1257)GAG>GAA p.E419E UROC1_uc010hsi.1_Silent_p.E479E NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 419 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) CACCTTTCTTCTCCACATCCG 0.602 6 49 --- --- --- --- PASS UROC1 131669 broad.mit.edu 37 3 126218994 126218994 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:126218994C>G uc003eiz.1 - 12 1181 c.1149G>C c.(1147-1149)CTG>CTC p.L383L UROC1_uc010hsi.1_Silent_p.L443L NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 383 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) CTTGCCTCCTCAGGCTGCAAC 0.602 8 79 --- --- --- --- PASS ACAD9 28976 broad.mit.edu 37 3 128615308 128615308 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:128615308G>A uc003ela.3 + 5 685 c.483G>A c.(481-483)CAG>CAA p.Q161Q ACAD9_uc010hsw.1_Silent_p.Q38Q|ACAD9_uc011bks.1_Silent_p.Q38Q|ACAD9_uc003elb.2_Silent_p.Q38Q|ACAD9_uc003elc.1_5'Flank|ACAD9_uc003eld.1_5'Flank NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 161 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 CTGAGGAGCAGAAAGCCAAAT 0.512 4 77 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129282078 129282078 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:129282078C>T uc003emx.2 - 26 4627 c.4527G>A c.(4525-4527)ACG>ACA p.T1509T PLXND1_uc011blb.1_Silent_p.T177T NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1509 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GCTCCCCCACCGTCTCCTGAG 0.627 4 37 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130318603 130318603 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:130318603C>A uc010htl.2 + 19 4633 c.4602C>A c.(4600-4602)GGC>GGA p.G1534G COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1534 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TTTGACAGGGCAGAAGAGGCT 0.498 14 88 --- --- --- --- PASS ASTE1 28990 broad.mit.edu 37 3 130735094 130735094 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:130735094C>T uc003env.1 - 5 2045 c.1603G>A c.(1603-1605)GAC>AAC p.D535N ATP2C1_uc011blh.1_3'UTR|ATP2C1_uc011bli.1_3'UTR|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_3'UTR|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_3'UTR|ATP2C1_uc003ent.2_3'UTR|ASTE1_uc010htm.1_Missense_Mutation_p.D535N|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 535 DNA repair nuclease activity 0 GTGTCTAAGTCCAGTCTTGTG 0.512 6 250 --- --- --- --- PASS PLS1 5357 broad.mit.edu 37 3 142389956 142389956 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:142389956C>G uc010huv.2 + 4 515 c.356C>G c.(355-357)TCT>TGT p.S119C PLS1_uc003euz.2_Missense_Mutation_p.S119C|PLS1_uc003eva.2_Missense_Mutation_p.S119C NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 119 Actin-binding 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 ACACAGCATTCTTATTCAGGT 0.289 5 452 --- --- --- --- PASS DHX36 170506 broad.mit.edu 37 3 154001039 154001039 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:154001039G>A uc003ezy.3 - 20 2395 c.2314C>T c.(2314-2316)CGT>TGT p.R772C DHX36_uc010hvq.2_Missense_Mutation_p.R758C|DHX36_uc003ezz.3_Missense_Mutation_p.R743C NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 772 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTGAAACCACGTCGCCTAGCC 0.393 118 71 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154055653 154055653 + Silent SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:154055653G>T uc003faa.2 - 4 2131 c.2031C>A c.(2029-2031)CCC>CCA p.P677P NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 677 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTACTGGTGGGCAAAAAGA 0.458 86 419 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155232559 155232559 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:155232559C>A uc011bok.1 - 11 1826 c.1549G>T c.(1549-1551)GCA>TCA p.A517S PLCH1_uc011boj.1_Missense_Mutation_p.A517S|PLCH1_uc011bol.1_Missense_Mutation_p.A499S NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 517 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTCAGTAGTGCCCGCACTGTG 0.408 17 139 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165491294 165491294 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:165491294C>T uc003fem.3 - 4 1845 c.1685G>A c.(1684-1686)GGA>GAA p.G562E BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 562 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATCAATATTTCCTGTAAAATA 0.313 5 100 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167507060 167507060 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:167507060C>G uc003ffa.3 + 2 342 c.144C>G c.(142-144)TTC>TTG p.F48L SERPINI1_uc003ffb.3_Missense_Mutation_p.F48L NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 48 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 ATATTCTCTTCTCTCCATTGA 0.458 24 317 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169540078 169540078 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:169540078C>T uc003fgb.2 + 1 369 c.369C>T c.(367-369)CTC>CTT p.L123L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 123 LRR 5. 0 TGCGCGAGCTCCGGCTCTACC 0.582 35 261 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 170016837 170016837 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:170016837G>T uc003fgs.2 + 17 1880 c.1642G>T c.(1642-1644)GGT>TGT p.G548C PRKCI_uc003fgt.2_Missense_Mutation_p.G103C NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 548 AGC-kinase C-terminal. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGGGGAATTTGGTTTGGACAA 0.368 8 188 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171405270 171405270 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:171405270C>T uc003fhs.2 - 15 1760 c.1644G>A c.(1642-1644)CTG>CTA p.L548L PLD1_uc003fht.2_Silent_p.L548L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 548 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTATTCCTTTCAGTTTTGAAT 0.433 10 428 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 11 171 --- --- --- --- PASS FAM131A 131408 broad.mit.edu 37 3 184062659 184062659 + Silent SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:184062659A>G uc003fog.2 + 3 2273 c.909A>G c.(907-909)CCA>CCG p.P303P FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.P249P|FAM131A_uc003foe.2_Silent_p.P249P NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 303 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGCCCACCACTAACGGGCA 0.637 11 124 --- --- --- --- PASS FETUB 26998 broad.mit.edu 37 3 186362640 186362640 + Silent SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:186362640T>C uc010hyq.2 + 5 786 c.525T>C c.(523-525)CTT>CTC p.L175L FETUB_uc011brz.1_Silent_p.L27L|FETUB_uc003fqn.2_Silent_p.L175L|FETUB_uc003fqo.2_Silent_p.L70L|FETUB_uc010hyr.2_Silent_p.L138L|FETUB_uc010hys.2_Silent_p.L27L|FETUB_uc003fqp.3_Silent_p.L110L NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 175 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCGAGTCTCTTGCGAAATACA 0.473 29 377 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193028476 193028476 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:193028476T>C uc011bsq.1 - 21 2476 c.2476A>G c.(2476-2478)ATG>GTG p.M826V NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 826 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCAGGAGACATTCTTGCAAAA 0.348 23 196 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195487765 195487765 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:195487765G>A uc011bto.1 - 17 14914 c.14454C>T c.(14452-14454)AAC>AAT p.N4818N MUC4_uc003fuz.2_Silent_p.N544N|MUC4_uc003fva.2_Silent_p.N426N|MUC4_uc003fvb.2_Silent_p.N462N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.N462N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.N426N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.N510N|MUC4_uc011bti.1_Silent_p.N510N|MUC4_uc011btj.1_Silent_p.N687N|MUC4_uc011btk.1_Silent_p.N426N|MUC4_uc011btl.1_Silent_p.N455N|MUC4_uc011btm.1_Silent_p.N635N|MUC4_uc011btn.1_Silent_p.N426N|MUC4_uc003fvo.2_Silent_p.N710N|MUC4_uc003fvp.2_Silent_p.N659N NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1703 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGGTGGCGTTCGCCTGCT 0.582 14 202 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195515857 195515857 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:195515857G>A uc011bto.1 - 2 3054 c.2594C>T c.(2593-2595)TCT>TTT p.S865F MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S747F NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 870 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACGATCGAAGACGCCATTCC 0.587 10 98 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195515959 195515959 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:195515959G>A uc011bto.1 - 2 2952 c.2492C>T c.(2491-2493)TCA>TTA p.S831L MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S713L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 836 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTTTGATGAAAACCTTGT 0.567 23 202 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195517057 195517057 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:195517057G>A uc011bto.1 - 2 1854 c.1394C>T c.(1393-1395)CCT>CTT p.P465L MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P347L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 470 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCTCTCATGAGGCCGTCCTGT 0.493 55 514 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196792249 196792249 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:196792249C>T uc003fxo.3 - 23 2494 c.2304G>A c.(2302-2304)CAG>CAA p.Q768Q DLG1_uc011bub.1_Silent_p.Q664Q|DLG1_uc011buc.1_Silent_p.Q652Q|DLG1_uc011bud.1_Silent_p.Q451Q|DLG1_uc003fxn.3_Silent_p.Q790Q|DLG1_uc011bue.1_Silent_p.Q756Q|DLG1_uc010ial.2_Silent_p.Q768Q NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 768 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CTTTTTCCATCTGCTCTCTTG 0.353 48 448 --- --- --- --- PASS IQCG 84223 broad.mit.edu 37 3 197665535 197665535 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr3:197665535G>C uc003fyo.2 - 4 545 c.399C>G c.(397-399)ATC>ATG p.I133M IQCG_uc003fyn.2_Missense_Mutation_p.I35M|IQCG_uc003fyp.2_Missense_Mutation_p.I133M|IQCG_uc003fyq.3_Missense_Mutation_p.I133M NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 133 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTCTGTGTCTGATTTCTGGCA 0.438 686 232 --- --- --- --- PASS ADRA2C 152 broad.mit.edu 37 4 3768879 3768879 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:3768879C>G uc003ghm.2 + 1 584 c.546C>G c.(544-546)ATC>ATG p.I182M ADRA2C_uc010icx.2_Missense_Mutation_p.I182M NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 182 Helical; Name=4; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CGGCCGTCATCTCCTTCCCGC 0.672 3 13 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6050631 6050631 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:6050631G>C uc010idb.1 - 16 2467 c.1981C>G c.(1981-1983)CAG>GAG p.Q661E JAKMIP1_uc010idc.1_Missense_Mutation_p.Q476E|JAKMIP1_uc010idd.1_Intron NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ATTGCAACCTGTTCTTCATTT 0.468 12 46 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8603071 8603071 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:8603071C>T uc003glm.2 + 3 469 c.343C>T c.(343-345)CGC>TGC p.R115C CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.R104C|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 115 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 CGGCTGGGTGCGCAGACCCTG 0.692 15 14 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39449075 39449075 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:39449075A>T uc003gua.2 + 4 2826 c.2729A>T c.(2728-2730)TAC>TTC p.Y910F KLB_uc011byj.1_Missense_Mutation_p.Y901F NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 910 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 CTAGGGAAGTACCTTCAGGAG 0.572 23 64 --- --- --- --- PASS GNPDA2 132789 broad.mit.edu 37 4 44709814 44709814 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:44709814C>G uc003gwy.2 - 6 881 c.724G>C c.(724-726)GAT>CAT p.D242H GNPDA2_uc010iga.2_Missense_Mutation_p.D208H|GNPDA2_uc011bzb.1_Missense_Mutation_p.D172H|GNPDA2_uc003gwz.1_Missense_Mutation_p.D242H NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 242 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 AAAGTAGCATCTTCATCGCAT 0.393 29 16 --- --- --- --- PASS GABRA4 2557 broad.mit.edu 37 4 46967219 46967219 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:46967219G>C uc003gxg.2 - 8 1041 c.902C>G c.(901-903)ACA>AGA p.T301R NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 301 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGCTTAGTGTGGTCATGGT 0.448 4 137 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766127 88766127 + Splice_Site SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:88766127A>T uc003hqy.2 + 4 148 c.109_splice c.e4-2 p.Q37_splice MEPE_uc010ikn.2_Splice_Site NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) ATTGTATTTTAGCAGGAAGAA 0.244 13 29 --- --- --- --- PASS H2AFZ 3015 broad.mit.edu 37 4 100870459 100870459 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:100870459C>G uc003hvo.1 - 3 351 c.166G>C c.(166-168)GCA>CCA p.A56P DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank NM_002106 NP_002097 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 56 nucleosome assembly nucleosome|nucleus DNA binding 0 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) AGGATGGCTGCGCTGTACACA 0.552 OREG0016271 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 34 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125592435 125592435 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:125592435T>C uc003ifg.3 - 3 2263 c.1997A>G c.(1996-1998)CAT>CGT p.H666R ANKRD50_uc011cgo.1_Missense_Mutation_p.H487R|ANKRD50_uc010inw.2_Missense_Mutation_p.H666R NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 666 ANK 6. central_nervous_system(1) 1 TTCAGCGCCATGTTGTAGCAA 0.468 4 97 --- --- --- --- PASS PCDH18 54510 broad.mit.edu 37 4 138452960 138452960 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:138452960C>G uc003ihe.3 - 1 670 c.283G>C c.(283-285)GAA>CAA p.E95Q PCDH18_uc003ihf.3_Missense_Mutation_p.E88Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 95 Extracellular (Potential).|Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) CACAGTTGTTCACGGTCAATT 0.433 51 135 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143114254 143114254 + Missense_Mutation SNP T G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:143114254T>G uc003iix.3 - 16 1762 c.1167A>C c.(1165-1167)GAA>GAC p.E389D INPP4B_uc003iiw.3_Missense_Mutation_p.E389D|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E204D|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.E260D NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 389 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TTCTTTCTGTTTCAAATCTAT 0.438 4 90 --- --- --- --- PASS LRAT 9227 broad.mit.edu 37 4 155670262 155670262 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:155670262C>A uc003iom.1 + 2 994 c.667C>A c.(667-669)CCA>ACA p.P223T LRAT_uc003ion.1_Missense_Mutation_p.P223T NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 223 Lumenal (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) AATTTTTATTCCATTCTTCCT 0.393 50 125 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164394680 164394680 + Missense_Mutation SNP G T T rs114941835 by1000genomes TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:164394680G>T uc003iqp.3 - 1 368 c.207C>A c.(205-207)AAC>AAA p.N69K NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 69 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGAACCGGTCGTTGTCCGGGT 0.557 8 20 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169157421 169157421 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:169157421G>A uc003irp.2 - 33 4807 c.4515C>T c.(4513-4515)TTC>TTT p.F1505F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1505 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GATAAAACTCGAAGTGTGCAT 0.323 3 36 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169362543 169362543 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:169362543A>C uc003irq.3 - 10 1460 c.1239T>G c.(1237-1239)TTT>TTG p.F413L DDX60L_uc003irr.1_Missense_Mutation_p.F413L|DDX60L_uc003irs.1_Missense_Mutation_p.F140L NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 413 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTCTCAGAGGAAAAGACTTTC 0.368 19 59 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175897229 175897229 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:175897229C>G uc003iuc.2 + 5 1223 c.553C>G c.(553-555)CAG>GAG p.Q185E ADAM29_uc003iud.2_Missense_Mutation_p.Q185E|ADAM29_uc010irr.2_Missense_Mutation_p.Q185E|ADAM29_uc011cki.1_Missense_Mutation_p.Q185E NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 185 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TAATTCCACTCAGAAGCAAAG 0.358 20 39 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177608578 177608578 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:177608578C>A uc003ius.1 - 6 1338 c.908G>T c.(907-909)AGC>ATC p.S303I NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 303 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GGGTCCACAGCTGGCAGGCCG 0.507 27 72 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186380457 186380457 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr4:186380457A>C uc003ixu.3 - 6 1360 c.1284T>G c.(1282-1284)ATT>ATG p.I428M CCDC110_uc003ixv.3_Missense_Mutation_p.I391M|CCDC110_uc011ckt.1_Missense_Mutation_p.I428M NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 428 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) GTAAGTACTGAATTTTTGCAA 0.323 45 84 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 161981 161981 + Silent SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:161981G>C uc003jak.2 + 10 1553 c.1503G>C c.(1501-1503)CTG>CTC p.L501L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 501 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GAAGGGGCCTGAGCGCCGTGG 0.607 9 35 --- --- --- --- PASS SLC6A19 340024 broad.mit.edu 37 5 1219621 1219621 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:1219621C>T uc003jbw.3 + 10 1436 c.1380C>T c.(1378-1380)GGC>GGT p.G460G NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 460 Helical; Name=9; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGCCTGCAGGCCTCATCTGCC 0.637 9 43 --- --- --- --- PASS TERT 7015 broad.mit.edu 37 5 1264568 1264568 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:1264568C>T uc003jcb.1 - 11 2852 c.2794G>A c.(2794-2796)GGC>AGC p.G932S TERT_uc003jbz.1_Missense_Mutation_p.G128S|TERT_uc003jca.1_Missense_Mutation_p.G920S|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 932 Primer grip sequence.|Reverse transcriptase. WCGLL->AAAAA: Completely abolishes telomerase-mediated primer extension and reduced binding to short telomeric primers. Complete loss of catalytic activity but no further loss of binding to telomeric primers; when associated with 137-A--A-141. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGCAGCAGGCCGCACCAGGGG 0.647 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 16 22 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13721263 13721263 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:13721263C>G uc003jfd.2 - 71 12167 c.12125G>C c.(12124-12126)CGG>CCG p.R4042P DNAH5_uc003jfc.2_Missense_Mutation_p.R210P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4042 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAGTGGCGTCCGTGGATCAGA 0.483 Kartagener_syndrome 42 77 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13894861 13894861 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:13894861G>A uc003jfd.2 - 16 2371 c.2329C>T c.(2329-2331)CAC>TAC p.H777Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 777 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTGGCCAAGTGAGGGACAATC 0.413 Kartagener_syndrome 28 115 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:13923469C>T uc003jfd.2 - 4 400 c.358G>A c.(358-360)GAT>AAT p.D120N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGAGCCACATCGTTTCCCTCG 0.458 Kartagener_syndrome 65 166 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21752083 21752083 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:21752083G>A uc010iuc.2 - 12 2606 c.2148C>T c.(2146-2148)TTC>TTT p.F716F CDH12_uc011cno.1_Silent_p.F676F|CDH12_uc003jgk.2_Silent_p.F716F|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 716 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TTTGATGAATGAAATCCCTTA 0.468 HNSCC(59;0.17) 15 77 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32048766 32048766 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:32048766G>A uc003jhl.2 + 8 2029 c.1641G>A c.(1639-1641)CTG>CTA p.L547L PDZD2_uc003jhm.2_Silent_p.L547L|PDZD2_uc011cnx.1_Silent_p.L373L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 547 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TCCCGCAGCTGCTGGACTCTT 0.552 7 63 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37305197 37305197 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:37305197C>T uc003jku.1 - 26 3137 c.3019G>A c.(3019-3021)GAT>AAT p.D1007N NUP155_uc003jkt.1_Missense_Mutation_p.D948N|NUP155_uc010iuz.1_Missense_Mutation_p.D943N NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1007 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATATTTGGATCAGATGACAAC 0.408 50 170 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38338836 38338836 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:38338836C>T uc003jlc.1 + 3 568 c.244C>T c.(244-246)CAG>TAG p.Q82* EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Q82* NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 82 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TAAATCCCTGCAGGAGCAGTT 0.542 18 37 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41004926 41004926 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:41004926G>T uc003jmj.3 - 36 4451 c.3961C>A c.(3961-3963)CAG>AAG p.Q1321K HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q876K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1321 binding ovary(6)|central_nervous_system(2) 8 ATGGCCATCTGCCTCAGAGTG 0.493 27 27 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41069802 41069802 + Silent SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:41069802A>G uc003jmj.3 - 2 571 c.81T>C c.(79-81)ATT>ATC p.I27I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 27 binding ovary(6)|central_nervous_system(2) 8 CCTTGTTAACAATATCTTCCT 0.328 6 9 --- --- --- --- PASS MCCC2 64087 broad.mit.edu 37 5 70900248 70900248 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:70900248C>A uc003kbs.3 + 6 715 c.577C>A c.(577-579)CGT>AGT p.R193S MCCC2_uc010iyv.1_Missense_Mutation_p.R193S|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R62S NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 193 Carboxyltransferase. R -> C (in MCC2 deficiency; mild form). leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CCACTTTGGCCGTACATTCTA 0.368 3 80 --- --- --- --- PASS BHMT 635 broad.mit.edu 37 5 78411716 78411716 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:78411716G>A uc003kfu.3 + 2 265 c.160G>A c.(160-162)GAA>AAA p.E54K BHMT_uc011cti.1_Missense_Mutation_p.E54K NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 54 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GGAGCACCCAGAAGCAGGTTG 0.363 12 24 --- --- --- --- PASS FAM172A 83989 broad.mit.edu 37 5 93388891 93388891 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:93388891C>T uc010jbd.2 - 3 355 c.148G>A c.(148-150)GAT>AAT p.D50N FAM172A_uc011cuf.1_Missense_Mutation_p.D4N|FAM172A_uc011cug.1_Missense_Mutation_p.D4N|FAM172A_uc011cuh.1_5'UTR|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_5'UTR|FAM172A_uc003kkm.3_Missense_Mutation_p.D50N NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 50 endoplasmic reticulum|extracellular region 0 GGCGGTTCATCTTTTTTCATT 0.244 31 22 --- --- --- --- PASS FAM172A 83989 broad.mit.edu 37 5 93410402 93410402 + Missense_Mutation SNP G C C rs143516571 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:93410402G>C uc010jbd.2 - 2 262 c.55C>G c.(55-57)CAA>GAA p.Q19E FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_5'UTR|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.Q19E NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 19 endoplasmic reticulum|extracellular region 0 TGCTGGATTTGTGCCATGTTT 0.338 13 63 --- --- --- --- PASS CAMK4 814 broad.mit.edu 37 5 110820063 110820063 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:110820063C>A uc011cvj.1 + 12 1420 c.1321C>A c.(1321-1323)CTG>ATG p.L441M CAMK4_uc003kpf.2_Missense_Mutation_p.L441M|CAMK4_uc010jbv.2_Missense_Mutation_p.L244M|CAMK4_uc003kpg.2_Missense_Mutation_p.L132M NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 441 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) AGAGGAGAAGCTGAAGACTGT 0.537 31 10 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127670448 127670448 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:127670448C>G uc003kuu.2 - 31 4501 c.4062G>C c.(4060-4062)CTG>CTC p.L1354L FBN2_uc003kuv.2_Silent_p.L1321L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1354 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGAGTAACCCAGCTGACAGT 0.408 72 19 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128957936 128957936 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:128957936C>T uc003kvb.1 + 10 1647 c.1647C>T c.(1645-1647)GTC>GTT p.V549V ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 549 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CGCAGAGTGTCAATTCTGTGA 0.433 18 39 --- --- --- --- PASS SKP1 6500 broad.mit.edu 37 5 133496743 133496743 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:133496743C>T uc003kzc.3 - 4 429 c.250G>A c.(250-252)GAT>AAT p.D84N SKP1_uc003kzd.3_Missense_Mutation_p.D84N|SKP1_uc010jdv.2_Missense_Mutation_p.D84N NM_170679 NP_733779 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 isoform b 84 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAGGGATATCATCTGTTCGC 0.413 17 30 --- --- --- --- PASS CAMLG 819 broad.mit.edu 37 5 134086614 134086614 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:134086614G>C uc003kzt.2 + 4 970 c.865G>C c.(865-867)GAT>CAT p.D289H CAMLG_uc003kzu.2_3'UTR NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 289 Cytoplasmic (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) TGAACTGCTTGATTATTGGGG 0.368 36 14 --- --- --- --- PASS CXXC5 51523 broad.mit.edu 37 5 139060756 139060756 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:139060756C>T uc010jfg.1 + 2 938 c.648C>T c.(646-648)ATC>ATT p.I216I CXXC5_uc003let.2_Silent_p.I216I NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN CXXC finger 5 216 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTCCCCATCAACCCAGGCC 0.657 10 31 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905841 139905841 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:139905841G>T uc003lfs.1 + 26 4877 c.4753G>T c.(4753-4755)GGT>TGT p.G1585C ANKHD1_uc003lfr.2_Missense_Mutation_p.G1585C|ANKHD1_uc003lfu.1_Missense_Mutation_p.G1065C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G324C|ANKHD1_uc003lfw.2_Missense_Mutation_p.G223C|ANKHD1_uc010jfl.2_Missense_Mutation_p.G20C|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1585 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAGAGGTGGTGGTGCAGG 0.398 40 103 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140719400 140719400 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:140719400A>T uc003ljk.1 + 1 1047 c.862A>T c.(862-864)ACC>TCC p.T288S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T288S NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 288 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGGAGAAACCTCAGAGGT 0.448 11 149 --- --- --- --- PASS PTTG1 9232 broad.mit.edu 37 5 159855639 159855639 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:159855639C>T uc003lyj.2 + 6 605 c.560C>T c.(559-561)TCG>TTG p.S187L PTTG1_uc003lyk.2_Missense_Mutation_p.S187L NM_004219 NP_004210 O95997 PTTG1_HUMAN pituitary tumor-transforming protein 1 187 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) AGCATTCTGTCGACCCTGGAT 0.348 112 58 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178634588 178634588 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:178634588C>A uc003mjw.2 - 4 817 c.817G>T c.(817-819)GGC>TGC p.G273C ADAMTS2_uc011dgm.1_Missense_Mutation_p.G273C NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 273 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TCATCCACGCCCAGCAGGACC 0.627 73 41 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178634589 178634589 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:178634589C>A uc003mjw.2 - 4 816 c.816G>T c.(814-816)CTG>CTT p.L272L ADAMTS2_uc011dgm.1_Silent_p.L272L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 272 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CATCCACGCCCAGCAGGACCT 0.622 74 40 --- --- --- --- PASS CNOT6 57472 broad.mit.edu 37 5 180001041 180001041 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr5:180001041C>A uc003mlx.2 + 12 1864 c.1515C>A c.(1513-1515)ATC>ATA p.I505I CNOT6_uc010jld.2_Silent_p.I505I|CNOT6_uc010jle.2_Silent_p.I500I NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 505 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CCTTAGGCATCCTGGGCCCTC 0.463 13 76 --- --- --- --- PASS FOXF2 2295 broad.mit.edu 37 6 1390512 1390512 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:1390512C>T uc003mtm.2 + 1 444 c.330C>T c.(328-330)GTC>GTT p.V110V FOXF2_uc003mtn.2_Silent_p.V110V NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 110 Fork-head. epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CGCTCATCGTCATGGCCATCC 0.552 8 15 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15501270 15501270 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:15501270G>A uc003nbj.2 + 8 2322 c.2078G>A c.(2077-2079)CGG>CAG p.R693Q JARID2_uc011div.1_Missense_Mutation_p.R521Q|JARID2_uc011diw.1_Missense_Mutation_p.R655Q NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 693 ARID. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GCCCAGGACCGGCTGGCCAAG 0.587 29 72 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26393175 26393175 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:26393175G>T uc003nhq.2 + 8 1638 c.1552G>T c.(1552-1554)GGG>TGG p.G518W BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.G402W|BTN2A2_uc011dkh.1_Missense_Mutation_p.G308W|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.G518W|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 518 Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 TCACAGAGTGGGGACCCACCA 0.557 7 52 --- --- --- --- PASS ZNF192 7745 broad.mit.edu 37 6 28121755 28121755 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:28121755G>C uc003nkn.1 + 6 1881 c.1697G>C c.(1696-1698)AGA>ACA p.R566T ZNF192_uc010jqx.1_Missense_Mutation_p.R566T|ZNF192_uc010jqy.1_Missense_Mutation_p.R379T|ZNF192_uc011dkz.1_Missense_Mutation_p.R379T NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 566 C2H2-type 9. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGACATCAGAGAATCCACAGT 0.428 4 92 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28333415 28333415 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:28333415G>A uc003nle.3 + 6 1186 c.970G>A c.(970-972)GCT>ACT p.A324T ZKSCAN3_uc010jrc.2_Missense_Mutation_p.A324T|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.A176T|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 324 C2H2-type 1. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AAAGAGTTTTGCTCAAAGCTC 0.507 28 21 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672362 30672362 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:30672362G>T uc003nrg.3 - 10 5038 c.4598C>A c.(4597-4599)GCA>GAA p.A1533E MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1140E NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1533 Interaction with the PRKDC complex. A -> T (in Ref. 4; BAC54931/BAF31266). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTCAGGGGCTGCGGGCACAAC 0.592 Other_conserved_DNA_damage_response_genes 5 230 --- --- --- --- PASS ZBTB12 221527 broad.mit.edu 37 6 31868521 31868521 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:31868521C>T uc003nyd.1 - 2 738 c.562G>A c.(562-564)GAA>AAA p.E188K C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCAAGTCTTCATCCAGTGGG 0.622 12 40 --- --- --- --- PASS ZBTB12 221527 broad.mit.edu 37 6 31868998 31868998 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:31868998C>T uc003nyd.1 - 2 261 c.85G>A c.(85-87)GAG>AAG p.E29K C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACCGCTCCTCTGCCCGGAGC 0.652 12 32 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33132203 33132203 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:33132203G>A uc003ocx.1 - 65 5139 c.4911C>T c.(4909-4911)CTC>CTT p.L1637L COL11A2_uc010jul.1_Silent_p.L207L|COL11A2_uc003ocy.1_Silent_p.L1551L|COL11A2_uc003ocz.1_Silent_p.L1530L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1637 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GCAGGAAGGTGAGCTGGACCA 0.652 3 10 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34826439 34826439 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:34826439C>T uc003oju.3 + 14 2540 c.2306C>T c.(2305-2307)TCT>TTT p.S769F UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 769 ovary(3) 3 GCCCCTGACTCTATGTCCCAT 0.502 6 89 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36929668 36929668 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:36929668C>A uc003ona.2 + 4 838 c.510C>A c.(508-510)AAC>AAA p.N170K PI16_uc003omz.1_Missense_Mutation_p.N170K|PI16_uc003onb.2_Missense_Mutation_p.N170K|PI16_uc011dts.1_5'UTR NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 170 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 GTAGGGGGAACGTGAAGGGGA 0.612 36 43 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43163986 43163986 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:43163986G>A uc003ouk.2 + 10 2643 c.2568G>A c.(2566-2568)CTG>CTA p.L856L CUL9_uc003oul.2_Silent_p.L856L|CUL9_uc010jyk.2_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 856 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCGTGATCCTGATGCTGAATA 0.577 6 63 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56438586 56438586 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:56438586C>T uc003pdf.2 - 45 6798 c.6770G>A c.(6769-6771)GGC>GAC p.G2257D DST_uc003pcz.3_Missense_Mutation_p.G2079D|DST_uc011dxj.1_Missense_Mutation_p.G2108D|DST_uc011dxk.1_Missense_Mutation_p.G2119D|DST_uc003pcy.3_Missense_Mutation_p.G1753D|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4165 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCATCCAAGCCATCCTGCAC 0.423 32 67 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76580394 76580394 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:76580394C>T uc003pih.1 + 19 2254 c.1975C>T c.(1975-1977)CGA>TGA p.R659* MYO6_uc003pig.1_Nonsense_Mutation_p.R659*|MYO6_uc003pii.1_Nonsense_Mutation_p.R659* NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 659 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GGATAAACTTCGAAGTACTGT 0.308 10 33 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84371269 84371269 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:84371269G>T uc011dze.1 - 5 721 c.404C>A c.(403-405)GCT>GAT p.A135D SNAP91_uc003pkb.2_Missense_Mutation_p.A100D|SNAP91_uc003pkc.2_Missense_Mutation_p.A135D|SNAP91_uc003pkd.2_Missense_Mutation_p.A135D|SNAP91_uc003pka.2_Missense_Mutation_p.A135D|SNAP91_uc011dzf.1_Missense_Mutation_p.A16D NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 135 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTAAGAAAAAGCCTTTTCATT 0.333 14 30 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90581069 90581069 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:90581069G>C uc003pnr.2 + 9 6050 c.5854G>C c.(5854-5856)GCA>CCA p.A1952P CASP8AP2_uc003pns.2_Missense_Mutation_p.A160P|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A1952P|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A1952P NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1952 NCOA2-binding. cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TAAAACATTTGCATATTTAGC 0.338 37 40 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123319198 123319198 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:123319198C>A uc003pzi.1 + 2 1145 c.276C>A c.(274-276)ACC>ACA p.T92T NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 92 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TTAAGGCCACCGACCCTGGCA 0.542 52 75 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128411138 128411138 + Splice_Site SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:128411138C>T uc003qbk.2 - 8 1530 c.1163_splice c.e8-1 p.E388_splice PTPRK_uc003qbj.2_Splice_Site_p.E388_splice|PTPRK_uc010kfc.2_Splice_Site_p.E388_splice|PTPRK_uc011ebu.1_Splice_Site_p.E388_splice|PTPRK_uc003qbl.1_Splice_Site_p.E258_splice|PTPRK_uc011ebv.1_Splice_Site_p.E388_splice NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CTCATAGGTTCTGAAAAATAA 0.363 12 65 --- --- --- --- PASS MYB 4602 broad.mit.edu 37 6 135516964 135516964 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:135516964G>T uc003qfc.2 + 9 1226 c.1027G>T c.(1027-1029)GCA>TCA p.A343S MYB_uc003qfh.2_Missense_Mutation_p.A343S|MYB_uc003qfi.2_Missense_Mutation_p.A343S|MYB_uc010kgi.2_Missense_Mutation_p.A343S|MYB_uc003qfq.2_Missense_Mutation_p.A340S|MYB_uc010kgj.2_Missense_Mutation_p.A308S|MYB_uc003qfo.2_Intron|MYB_uc003qfu.2_Missense_Mutation_p.A340S|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_Intron|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.A155S|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.A343S|MYB_uc003qge.1_RNA NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 343 Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TGGAGACAGTGCACCTGTTTC 0.577 T NFIB adenoid cystic carcinoma 35 57 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146625764 146625764 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:146625764G>A uc010khw.1 + 4 1438 c.968G>A c.(967-969)AGA>AAA p.R323K GRM1_uc010khv.1_Missense_Mutation_p.R323K|GRM1_uc003qll.2_Missense_Mutation_p.R323K|GRM1_uc011edz.1_Missense_Mutation_p.R323K|GRM1_uc011eea.1_Missense_Mutation_p.R323K NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 323 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGGGCAGACAGAGATGAAGTC 0.428 7 15 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146720267 146720267 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:146720267C>A uc010khw.1 + 8 2562 c.2092C>A c.(2092-2094)CCC>ACC p.P698T GRM1_uc010khv.1_Missense_Mutation_p.P698T|GRM1_uc003qll.2_Missense_Mutation_p.P698T|GRM1_uc011edz.1_Missense_Mutation_p.P698T|GRM1_uc011eea.1_Missense_Mutation_p.P698T NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 698 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CACCCGGAAGCCCAGGTTCAT 0.512 45 104 --- --- --- --- PASS STXBP5 134957 broad.mit.edu 37 6 147680256 147680256 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:147680256C>T uc003qlz.2 + 23 2503 c.2342C>T c.(2341-2343)TCA>TTA p.S781L STXBP5_uc010khz.1_Missense_Mutation_p.S745L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.S436L NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 781 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TCACGGAGTTCAAGTGTAACA 0.398 14 36 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152763307 152763307 + Missense_Mutation SNP C T T rs141164314 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:152763307C>T uc010kiw.2 - 31 4513 c.3911G>A c.(3910-3912)GGG>GAG p.G1304E SYNE1_uc003qot.3_Missense_Mutation_p.G1311E|SYNE1_uc003qou.3_Missense_Mutation_p.G1304E|SYNE1_uc010kjb.1_Missense_Mutation_p.G1287E|SYNE1_uc003qow.2_Missense_Mutation_p.G599E|SYNE1_uc003qox.1_Missense_Mutation_p.G820E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1304 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGCAGCCCCCCTTCTCCCTG 0.592 HNSCC(10;0.0054) 38 83 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155728279 155728279 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:155728279G>T uc003qqm.2 - 12 1668 c.1565C>A c.(1564-1566)GCC>GAC p.A522D NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 522 Cytoplasmic (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GTGATTGTAGGCAATCTGCTT 0.483 31 47 --- --- --- --- PASS ZDHHC14 79683 broad.mit.edu 37 6 158014099 158014099 + Silent SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:158014099G>T uc003qqt.2 + 3 983 c.486G>T c.(484-486)GTG>GTT p.V162V ZDHHC14_uc003qqs.2_Silent_p.V162V|ZDHHC14_uc010kjm.1_Silent_p.V57V NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 162 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GCCAGACCGTGAAACTTAAAT 0.532 54 75 --- --- --- --- PASS MAS1 4142 broad.mit.edu 37 6 160328118 160328118 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr6:160328118C>A uc003qsz.2 + 1 145 c.131C>A c.(130-132)CCA>CAA p.P44Q NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 44 Helical; Name=1; (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) AGCATCTCCCCAGTGGGGTTT 0.527 68 94 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2962953 2962953 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:2962953G>A uc003smv.2 - 16 2359 c.1955C>T c.(1954-1956)TCG>TTG p.S652L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 652 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGAGGTGACCGAAGGCCGGAA 0.652 Mis DLBCL 16 102 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4900561 4900561 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:4900561C>T uc003snk.2 - 1 1065 c.881G>A c.(880-882)CGG>CAG p.R294Q RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 293 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ATTAAGATTCCGTTCTTCAGG 0.443 10 153 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11445965 11445965 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:11445965T>C uc003ssf.3 - 21 4451 c.4199A>G c.(4198-4200)AAT>AGT p.N1400S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1400 TSP type-1 14.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CAGAACCATATTTTTATTACC 0.418 HNSCC(18;0.044) 29 129 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11501683 11501683 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:11501683T>C uc003ssf.3 - 10 2708 c.2456A>G c.(2455-2457)TAT>TGT p.Y819C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 819 TSP type-1 8.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTTCTCTTCATAGAGGGGATC 0.542 HNSCC(18;0.044) 96 169 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15240918 15240918 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:15240918A>T uc003stb.1 - 13 1500 c.1330T>A c.(1330-1332)TGG>AGG p.W444R NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 444 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GGTTATTTCCAAGGGTGAGAG 0.303 23 50 --- --- --- --- PASS NUPL2 11097 broad.mit.edu 37 7 23226676 23226676 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:23226676G>A uc003svu.2 + 3 615 c.356G>A c.(355-357)GGA>GAA p.G119E NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 119 Interaction with HIV-1 Vpr. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TGCAGGGAAGGAATTGTAAAA 0.308 40 54 --- --- --- --- PASS HOXA7 3204 broad.mit.edu 37 7 27195942 27195942 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:27195942C>T uc003sys.2 - 1 355 c.223G>A c.(223-225)GAC>AAC p.D75N NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 75 DA -> RR (in Ref. 8; AAD00727). angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 CCGTAGGCGTCGGCGCCCAGG 0.677 36 45 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31793022 31793022 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:31793022G>A uc003tcm.1 - 18 2575 c.2106C>T c.(2104-2106)ATC>ATT p.I702I PDE1C_uc003tcn.1_Silent_p.I702I|PDE1C_uc003tco.1_Silent_p.I762I NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 702 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AGTTATGTGAGATGTTCTGAA 0.473 48 397 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33573664 33573664 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:33573664G>A uc003tdn.1 + 21 2910 c.2397G>A c.(2395-2397)CTG>CTA p.L799L BBS9_uc003tdo.1_Silent_p.L764L|BBS9_uc003tdp.1_Silent_p.L794L|BBS9_uc003tdq.1_Silent_p.L759L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.L323L|BBS9_uc003tds.1_Silent_p.L222L|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 799 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ACAGCCAGCTGAACATACCCA 0.507 Bardet-Biedl_syndrome 36 129 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44192988 44192988 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:44192988C>T uc003tkl.2 - 2 590 c.120G>A c.(118-120)GAG>GAA p.E40E GCK_uc003tkj.1_Silent_p.E39E|GCK_uc003tkk.1_Silent_p.E41E NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 40 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CGCGGTCCATCTCCTTCTGCA 0.607 13 306 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44193044 44193044 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:44193044C>G uc003tkl.2 - 2 534 c.64G>C c.(64-66)GAG>CAG p.E22Q GCK_uc003tkj.1_Missense_Mutation_p.E21Q|GCK_uc003tkk.1_Missense_Mutation_p.E23Q NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 22 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 AGCTGGAACTCTGCCAGGATC 0.637 9 267 --- --- --- --- PASS CCDC146 57639 broad.mit.edu 37 7 76797022 76797022 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:76797022G>C uc003uga.2 + 2 164 c.37G>C c.(37-39)GAA>CAA p.E13Q CCDC146_uc003ufz.1_Missense_Mutation_p.E13Q NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 13 Poly-Glu. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAAAGAAGAGGAAGAGGAGAA 0.358 11 44 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87049377 87049377 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:87049377C>T uc003uiv.1 - 19 2407 c.2331G>A c.(2329-2331)GGG>GGA p.G777G ABCB4_uc003uiw.1_Silent_p.G777G|ABCB4_uc003uix.1_Silent_p.G777G NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 777 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CGCCAGCTTTCCCAAACGTGA 0.358 24 111 --- --- --- --- PASS CLDN12 9069 broad.mit.edu 37 7 90042641 90042641 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:90042641G>T uc003ukp.2 + 5 1287 c.651G>T c.(649-651)ATG>ATT p.M217I CLDN12_uc003ukq.2_Missense_Mutation_p.M217I|CLDN12_uc010leq.2_Missense_Mutation_p.M217I|CLDN12_uc003ukr.2_Missense_Mutation_p.M217I|CLDN12_uc003uks.2_Missense_Mutation_p.M217I NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 217 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CACCCAGTATGCATACTTACT 0.418 16 291 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94174881 94174881 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:94174881G>T uc003uni.3 + 12 1728 c.1501G>T c.(1501-1503)GTA>TTA p.V501L CASD1_uc003unj.3_Missense_Mutation_p.V501L NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 501 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAATTTCCTGGTAGTGGTGTT 0.353 41 78 --- --- --- --- PASS GNB2 2783 broad.mit.edu 37 7 100275765 100275765 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:100275765C>T uc003uwb.2 + 8 815 c.542C>T c.(541-543)GCT>GTT p.A181V GNB2_uc003uwc.2_Missense_Mutation_p.A137V|GNB2_uc010lhd.2_Missense_Mutation_p.A137V|GNB2_uc010lhe.2_Missense_Mutation_p.A137V|GNB2_uc003uwd.2_Missense_Mutation_p.A81V|GNB2_uc010lhf.2_Missense_Mutation_p.A81V|GNB2_uc003uwe.2_Missense_Mutation_p.A181V|GNB2_uc003uwf.2_Missense_Mutation_p.A81V NM_005273 NP_005264 P62879 GBB2_HUMAN guanine nucleotide-binding protein, beta-2 181 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity ovary(2) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) GTGGGTTTTGCTGGACACAGT 0.577 57 78 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101840185 101840185 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:101840185G>T uc003uyx.3 + 15 1532 c.1494G>T c.(1492-1494)CAG>CAT p.Q498H CUX1_uc003uys.3_Missense_Mutation_p.Q509H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 498 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 AGGCTATGCAGGAAGCCGGAA 0.483 51 58 --- --- --- --- PASS SLC26A5 375611 broad.mit.edu 37 7 103050851 103050851 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:103050851C>A uc003vbz.2 - 7 952 c.716G>T c.(715-717)GGA>GTA p.G239V SLC26A5_uc003vbt.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbu.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbv.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.G239V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 239 Extracellular (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 GGAAAAGATTCCACTGTACCG 0.433 24 62 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107820820 107820820 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:107820820C>T uc003vfb.2 - 25 3169 c.2698G>A c.(2698-2700)GAG>AAG p.E900K NRCAM_uc003vfc.2_Missense_Mutation_p.E884K|NRCAM_uc011kmk.1_Missense_Mutation_p.E895K|NRCAM_uc003vfd.2_Missense_Mutation_p.E876K|NRCAM_uc003vfe.2_Missense_Mutation_p.E876K NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 900 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 ATCTTTTTCTCAATGTGACGT 0.458 25 52 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119914873 119914873 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:119914873C>A uc003vjj.1 + 1 1152 c.187C>A c.(187-189)CCA>ACA p.P63T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 63 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GGAACGTTACCCAGACACTCT 0.542 103 163 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149476004 149476004 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr7:149476004G>T uc010lpk.2 + 7 970 c.970G>T c.(970-972)GGG>TGG p.G324W SSPO_uc010lpl.1_5'UTR NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 324 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGCCTCTGTGGGCTCTACAA 0.627 12 111 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 13251104 13251104 + Silent SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:13251104A>C uc003wwm.2 - 4 1716 c.1272T>G c.(1270-1272)TCT>TCG p.S424S DLC1_uc003wwn.2_Silent_p.S424S|DLC1_uc011kxy.1_Silent_p.S424S NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 424 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTGGAGTGGAAGATGGGAGGT 0.428 55 28 --- --- --- --- PASS TOX 9760 broad.mit.edu 37 8 59720307 59720307 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:59720307C>T uc003xtw.1 - 9 1801 c.1580G>A c.(1579-1581)TGA>TAA p.*527* NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 527 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TTCAGATTCTCAAGTAAGGTA 0.438 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 47 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69020434 69020434 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:69020434A>G uc003xxv.1 + 24 2833 c.2806A>G c.(2806-2808)ACC>GCC p.T936A PREX2_uc011lez.1_Missense_Mutation_p.T871A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 936 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTTCTGCCCTACCAACTGCCA 0.428 31 43 --- --- --- --- PASS TPD52 7163 broad.mit.edu 37 8 80992640 80992640 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:80992640C>T uc003ybr.1 - 1 371 c.49G>A c.(49-51)GAT>AAT p.D17N TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 17 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) GCATCAAAATCAAACGGGGAC 0.433 27 48 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 108913390 108913390 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:108913390C>G uc003yms.2 - 6 1303 c.645G>C c.(643-645)AAG>AAC p.K215N RSPO2_uc003ymq.2_Missense_Mutation_p.K148N|RSPO2_uc003ymr.2_Missense_Mutation_p.K151N NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 215 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) tcttgttcctcttctccttcg 0.338 16 47 --- --- --- --- PASS TRHR 7201 broad.mit.edu 37 8 110100362 110100362 + Silent SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:110100362T>A uc003ymz.3 + 1 637 c.621T>A c.(619-621)GCT>GCA p.A207A NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 207 Helical; Name=5; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TGATCCTGGCTACCGTCCTCT 0.388 37 62 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110406702 110406702 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:110406702C>T uc003yne.2 + 10 903 c.799C>T c.(799-801)CAA>TAA p.Q267* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 267 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGCAATGTTTCAAACATATGC 0.284 HNSCC(38;0.096) 3 6 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113694723 113694723 + Nonsense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:113694723A>T uc003ynu.2 - 16 2784 c.2625T>A c.(2623-2625)TGT>TGA p.C875* CSMD3_uc003yns.2_Nonsense_Mutation_p.C147*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C835*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C771* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 875 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCATAAGAATACATGTAATTG 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 56 91 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131795975 131795975 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:131795975A>G uc003ytd.3 - 17 3486 c.3230T>C c.(3229-3231)ATC>ACC p.I1077T ADCY8_uc010mds.2_Missense_Mutation_p.I946T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1077 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGCTTGTTGATCTCCTGTAT 0.498 HNSCC(32;0.087) 24 38 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143955898 143955898 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:143955898A>T uc003yxi.2 - 9 1410 c.1403T>A c.(1402-1404)CTG>CAG p.L468Q CYP11B1_uc010mex.2_Missense_Mutation_p.L167Q|CYP11B1_uc003yxh.2_Missense_Mutation_p.L118Q|CYP11B1_uc003yxj.2_Missense_Mutation_p.L402Q|CYP11B1_uc010mey.2_Missense_Mutation_p.L539Q NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 468 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAGGTGTTTCAGCACCTAGGA 0.537 Familial_Hyperaldosteronism_type_I OREG0005640 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP11B1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 23 57 --- --- --- --- PASS DGAT1 8694 broad.mit.edu 37 8 145541059 145541059 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr8:145541059G>T uc003zbv.3 - 13 1299 c.1031C>A c.(1030-1032)TCC>TAC p.S344Y DGAT1_uc010mfv.2_Intron NM_012079 NP_036211 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 344 Lumenal (Potential). triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) ATTCAGGCAGGAGTGGAAGAG 0.607 17 84 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5765672 5765672 + Nonsense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:5765672C>G uc003zji.2 + 20 2867 c.2774C>G c.(2773-2775)TCA>TGA p.S925* KIAA1432_uc003zjh.2_Nonsense_Mutation_p.S925*|KIAA1432_uc003zjl.3_Nonsense_Mutation_p.S888*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.S467*|ERMP1_uc011lme.1_RNA NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1004 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GAACCCAGTTCAAGTGGTGGA 0.413 161 78 --- --- --- --- PASS IFNA8 3445 broad.mit.edu 37 9 21409512 21409512 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:21409512G>C uc003zpc.1 + 1 367 c.337G>C c.(337-339)GAC>CAC p.D113H NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 113 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) CATCGAACTTGACCAGCAGCT 0.502 32 62 --- --- --- --- PASS CBWD6 644019 broad.mit.edu 37 9 69238300 69238300 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:69238300C>G uc004afj.3 - 8 698 c.592G>C c.(592-594)GAT>CAT p.D198H CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 198 ATP binding 0 AGAATGATATCTGCCAAAGCA 0.303 12 192 --- --- --- --- PASS BICD2 23299 broad.mit.edu 37 9 95491487 95491487 + Missense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:95491487T>A uc004aso.1 - 2 329 c.272A>T c.(271-273)AAG>ATG p.K91M BICD2_uc004asp.1_Missense_Mutation_p.K91M NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 91 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 AGCAGCCACCTTCTTGTGGTT 0.602 14 57 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101748070 101748070 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:101748070C>A uc004azb.1 + 3 530 c.324C>A c.(322-324)TTC>TTA p.F108L COL15A1_uc004aza.2_Missense_Mutation_p.F108L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 108 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GCGTGCTCTTCGCCATCACTG 0.627 4 80 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104309471 104309471 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:104309471G>A uc004bbn.2 + 8 1037 c.947G>A c.(946-948)GGC>GAC p.G316D NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 316 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CTGTATGGCGGCACAATCACT 0.428 5 119 --- --- --- --- PASS OR13C4 138804 broad.mit.edu 37 9 107289089 107289089 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:107289089G>A uc011lvn.1 - 1 402 c.402C>T c.(400-402)ATC>ATT p.I134I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGTTCATGATGATGGGGTATC 0.453 27 128 --- --- --- --- PASS SLC44A1 23446 broad.mit.edu 37 9 108145413 108145413 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:108145413G>T uc004bcn.2 + 14 1863 c.1642G>T c.(1642-1644)GTC>TTC p.V548F SLC44A1_uc010mtk.1_Missense_Mutation_p.V548F|SLC44A1_uc004bco.1_Missense_Mutation_p.V340F NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 548 Helical; (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) GGTGCTGATAGTCTGCAGCAC 0.423 44 154 --- --- --- --- PASS RXRA 6256 broad.mit.edu 37 9 137300036 137300036 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:137300036C>T uc004cfb.2 + 3 483 c.321C>T c.(319-321)ATC>ATT p.I107I RXRA_uc004cfc.1_Silent_p.I10I NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 107 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCGAGGACATCAAGCCCCCCC 0.637 11 22 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139390779 139390779 + Nonsense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:139390779G>T uc004chz.2 - 34 7412 c.7412C>A c.(7411-7413)TCG>TAG p.S2471* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2471 Cytoplasmic (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 p.L2473fs*1(1) 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) TGGGACCAGCGAGGATGGCAG 0.697 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 6 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139390786 139390786 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:139390786G>A uc004chz.2 - 34 7405 c.7405C>T c.(7405-7407)CCA>TCA p.P2469S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2469 Cytoplasmic (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 p.L2469fs*10(2)|p.L2469fs*11(1) 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) AGCGAGGATGGCAGCGACGTG 0.697 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 7 --- --- --- --- PASS NRARP 441478 broad.mit.edu 37 9 140196134 140196134 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:140196134C>T uc004cmo.2 - 1 570 c.247G>A c.(247-249)GAC>AAC p.D83N C9orf167_uc011mew.1_Intron NM_001004354 NP_001004354 Q7Z6K4 NRARP_HUMAN NOTCH-regulated ankyrin repeat protein 83 ANK 2. negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.185) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273) CTCCAGCCGTCGCGGTTGGCC 0.672 11 16 --- --- --- --- PASS NRARP 441478 broad.mit.edu 37 9 140196233 140196233 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr9:140196233C>A uc004cmo.2 - 1 471 c.148G>T c.(148-150)GAG>TAG p.E50* C9orf167_uc011mew.1_Intron NM_001004354 NP_001004354 Q7Z6K4 NRARP_HUMAN NOTCH-regulated ankyrin repeat protein 50 ANK 1. negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.185) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273) GTCTGGCCCTCGGGCCCGAAC 0.637 17 39 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26508134 26508134 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:26508134C>A uc001isp.2 + 4 952 c.449C>A c.(448-450)GCA>GAA p.A150E GAD2_uc009xkr.2_Missense_Mutation_p.A150E|GAD2_uc001isq.2_Missense_Mutation_p.A150E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 150 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TGGGAATTGGCAGACCAACCA 0.328 40 99 --- --- --- --- PASS GPRIN2 9721 broad.mit.edu 37 10 46999535 46999535 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:46999535G>A uc001jec.2 + 3 790 c.655G>A c.(655-657)GAA>AAA p.E219K GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 219 0 CAAAGCTGCTGAACAGCTGGC 0.637 6 56 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64967446 64967446 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:64967446C>T uc001jmn.2 - 10 4283 c.3983G>A c.(3982-3984)CGA>CAA p.R1328Q JMJD1C_uc001jml.2_Missense_Mutation_p.R1109Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1040H|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1146H|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1146H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R365H NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1328 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTCACTAACACGATCTTTAGA 0.423 45 128 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70426800 70426800 + Splice_Site SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:70426800A>C uc001jok.3 + 7 4967 c.4462_splice c.e7-2 p.V1488_splice NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CTGTTTTTTCAGGTTTTAAGA 0.373 11 17 --- --- --- --- PASS TACR2 6865 broad.mit.edu 37 10 71168822 71168822 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:71168822G>A uc001jpn.2 - 3 1192 c.597C>T c.(595-597)CTC>CTT p.L199L TACR2_uc001jpm.2_5'UTR NM_001057 NP_001048 P21452 NK2R_HUMAN tachykinin receptor 2 199 Helical; Name=5; (Potential). excretion|muscle contraction integral to plasma membrane tachykinin receptor activity prostate(1) 1 Clonidine(DB00575)|Octreotide(DB00104) CGATCACCACGAGGTGGTACC 0.687 3 14 --- --- --- --- PASS KCNMA1 3778 broad.mit.edu 37 10 78844400 78844400 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:78844400G>C uc001jxn.2 - 12 1695 c.1518C>G c.(1516-1518)ATC>ATG p.I506M KCNMA1_uc001jxj.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxk.1_Missense_Mutation_p.I121M|KCNMA1_uc009xrt.1_Missense_Mutation_p.I326M|KCNMA1_uc001jxl.1_Missense_Mutation_p.I160M|KCNMA1_uc001jxo.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxm.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxq.2_Missense_Mutation_p.I506M NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 506 RCK N-terminal.|Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GTTACCTCATGATATTCGAGG 0.537 7 50 --- --- --- --- PASS PAX2 5076 broad.mit.edu 37 10 102506039 102506039 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:102506039G>C uc001krk.3 + 1 572 c.22G>C c.(22-24)GAC>CAC p.D8H PAX2_uc001krl.3_Missense_Mutation_p.D8H|PAX2_uc001krm.3_Missense_Mutation_p.D8H|PAX2_uc001kro.3_Missense_Mutation_p.D8H|PAX2_uc001krn.3_Missense_Mutation_p.D8H|PAX2_uc010qps.1_Missense_Mutation_p.D8H|PAX2_uc001krp.1_5'Flank NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 8 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CTGCAAAGCAGACCCCTTCTC 0.682 7 241 --- --- --- --- PASS POLL 27343 broad.mit.edu 37 10 103344610 103344610 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:103344610G>A uc001ktg.1 - 4 1406 c.640C>T c.(640-642)CTC>TTC p.L214F DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.L214F|POLL_uc001ktj.1_Missense_Mutation_p.L214F|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.L214F|POLL_uc001ktl.2_Missense_Mutation_p.L126F|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Silent_p.P71P NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 214 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CCACTGATGAGGGCTTCCAGA 0.527 DNA_polymerases_(catalytic_subunits) 20 19 --- --- --- --- PASS NOLC1 9221 broad.mit.edu 37 10 103919289 103919289 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:103919289G>C uc001kuo.2 + 7 1058 c.823G>C c.(823-825)GAA>CAA p.E275Q NOLC1_uc001kup.2_Missense_Mutation_p.E285Q|NOLC1_uc001kuq.2_Missense_Mutation_p.E276Q|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 275 Acidic serine cluster 5.|11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) CAGTGACGAGGAAGAGGAGCA 0.358 24 39 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107022168 107022168 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:107022168G>A uc001kyi.1 + 26 3750 c.3523G>A c.(3523-3525)GAA>AAA p.E1175K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1175 Cytoplasmic (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCAAAGTGAAAACGCCCC 0.507 12 49 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112344088 112344088 + Silent SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:112344088T>C uc001kze.2 + 13 1365 c.1239T>C c.(1237-1239)ATT>ATC p.I413I NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 413 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AAAGACAGATTGCTGCTATAC 0.343 5 90 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135106044 135106044 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr10:135106044C>G uc001lmg.1 - 8 1530 c.1173G>C c.(1171-1173)CTG>CTC p.L391L TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.L419L|TUBGCP2_uc009ybk.1_Silent_p.L391L|TUBGCP2_uc010qvd.1_Silent_p.L261L|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 391 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TCCACTTCTCCAGAACCTCGA 0.458 10 42 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080688 5080688 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:5080688A>G uc010qyw.1 - 1 170 c.170T>C c.(169-171)CTA>CCA p.L57P NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCTGGTGTAGGCTGCTGTC 0.488 18 38 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6265537 6265537 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:6265537C>T uc001mco.2 + 6 1733 c.1626C>T c.(1624-1626)CCC>CCT p.P542P CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 542 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCAATGCCCGAGGACCTGG 0.607 14 36 --- --- --- --- PASS CYB5R2 51700 broad.mit.edu 37 11 7689735 7689735 + Missense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:7689735T>A uc001mfm.2 - 6 684 c.446A>T c.(445-447)CAC>CTC p.H149L CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.H149L|CYB5R2_uc009yfl.1_3'UTR NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase b5R.2 149 FAD (By similarity). sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity 0 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATTCCCAGGTGATCGGCCAG 0.517 96 154 --- --- --- --- PASS CYB5R2 51700 broad.mit.edu 37 11 7689738 7689738 + Missense_Mutation SNP T A A rs142026127 byFrequency TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:7689738T>A uc001mfm.2 - 6 681 c.443A>T c.(442-444)GAT>GTT p.D148V CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.D148V|CYB5R2_uc009yfl.1_3'UTR NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase b5R.2 148 FAD (By similarity). sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity 0 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCCAGGTGATCGGCCAGTGT 0.507 93 158 --- --- --- --- PASS ABTB2 25841 broad.mit.edu 37 11 34180853 34180853 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:34180853T>C uc001mvl.1 - 14 2359 c.2129A>G c.(2128-2130)CAC>CGC p.H710R NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 710 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGAAAAATGTGGTACTTCAT 0.522 8 39 --- --- --- --- PASS ABTB2 25841 broad.mit.edu 37 11 34226167 34226167 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:34226167A>C uc001mvl.1 - 2 626 c.396T>G c.(394-396)GAT>GAG p.D132E NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 132 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGGCATAGGCATCGGCTCGCT 0.632 16 17 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136744 40136744 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:40136744C>T uc001mxa.1 - 2 3063 c.1099G>A c.(1099-1101)GAA>AAA p.E367K LRRC4C_uc001mxc.1_Missense_Mutation_p.E363K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E363K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E363K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 367 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GCCATGCCTTCAGTGACATTG 0.507 22 110 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904510 55904510 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:55904510G>T uc010riz.1 - 1 685 c.685C>A c.(685-687)CGT>AGT p.R229S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TCTGGTGAACGTATCCTTAGA 0.363 5 98 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944867 55944867 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:55944867C>A uc010rjb.1 + 1 774 c.774C>A c.(772-774)AGC>AGA p.S258R NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TAATCTTTAGCTACATTCAGC 0.453 25 148 --- --- --- --- PASS MS4A2 2206 broad.mit.edu 37 11 59857928 59857928 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:59857928C>A uc001nop.2 + 3 408 c.306C>A c.(304-306)TTC>TTA p.F102L MS4A2_uc009ymu.2_Missense_Mutation_p.F102L NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 102 Helical; (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) GTTATCCATTCTGGGGAGCCA 0.343 5 213 --- --- --- --- PASS CD6 923 broad.mit.edu 37 11 60785236 60785236 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:60785236G>C uc001nqq.2 + 11 1811 c.1588G>C c.(1588-1590)GAA>CAA p.E530Q CD6_uc001nqp.2_Missense_Mutation_p.E530Q|CD6_uc001nqr.2_Missense_Mutation_p.E498Q|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.E489Q NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 530 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 CTTAGGACTTGAAGAGTTGCA 0.398 18 108 --- --- --- --- PASS FERMT3 83706 broad.mit.edu 37 11 63978285 63978285 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:63978285C>G uc001nyl.2 + 3 512 c.363C>G c.(361-363)TTC>TTG p.F121L FERMT3_uc001nym.2_Missense_Mutation_p.F121L NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 121 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 AGCCCCTCTTCCAGGCTGTGG 0.667 49 176 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74057825 74057825 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:74057825G>A uc001ovb.1 - 8 1285 c.989C>T c.(988-990)GCC>GTC p.A330V NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 330 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) AGGATCTGTGGCTAGCACTAC 0.418 7 343 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103908395 103908395 + Missense_Mutation SNP T G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:103908395T>G uc001phr.2 + 1 1088 c.845T>G c.(844-846)GTG>GGG p.V282G PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 282 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ATGAGGCTGGTGGACCGACGG 0.502 61 74 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118352801 118352801 + Nonsense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:118352801G>T uc001pta.2 + 7 4029 c.4006G>T c.(4006-4008)GAA>TAA p.E1336* MLL_uc001ptb.2_Nonsense_Mutation_p.E1336*|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.Q61H NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1336 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TCCACCACCAGAATCAGGTGA 0.478 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 14 19 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128840352 128840352 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:128840352C>T uc009zcp.2 - 22 4714 c.4714G>A c.(4714-4716)GAA>AAA p.E1572K ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E531K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1223K NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1572 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GGAATGTCTTCGGGGTAACAG 0.552 15 65 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920213 4920213 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:4920213A>C uc001qng.2 + 1 1872 c.1006A>C c.(1006-1008)ATG>CTG p.M336L NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 336 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GCAGCAGGCCATGTCCCTGGC 0.632 HNSCC(72;0.22) 19 51 --- --- --- --- PASS GDF3 9573 broad.mit.edu 37 12 7842861 7842861 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:7842861C>T uc001qte.2 - 2 744 c.708G>A c.(706-708)GTG>GTA p.V236V NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 236 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GGTTGAGAGTCACCACCAGCA 0.517 4 97 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174550 11174550 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:11174550C>A uc010shj.1 - 1 621 c.621G>T c.(619-621)AAG>AAT p.K207N PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 207 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 GCCGCATCTTCTTGAGATGTT 0.403 10 219 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174583 11174583 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:11174583C>T uc010shj.1 - 1 588 c.588G>A c.(586-588)CTG>CTA p.L196L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 196 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 AGATTAACAGCAGAAAACATA 0.398 7 211 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22061137 22061137 + Missense_Mutation SNP C A A rs151197166 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:22061137C>A uc001rfi.1 - 9 1349 c.1329G>T c.(1327-1329)ATG>ATT p.M443I ABCC9_uc001rfh.2_Missense_Mutation_p.M443I|ABCC9_uc001rfj.1_Missense_Mutation_p.M443I NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 443 ABC transmembrane type-1 1.|Helical; Name=8; (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAATCACGCCCATTATGATCT 0.393 19 33 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23699316 23699316 + Nonsense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:23699316T>A uc001rfw.2 - 12 1633 c.1531A>T c.(1531-1533)AAA>TAA p.K511* SOX5_uc001rfx.2_Nonsense_Mutation_p.K498*|SOX5_uc001rfy.2_Nonsense_Mutation_p.K390*|SOX5_uc001rfv.2_Nonsense_Mutation_p.K125*|SOX5_uc010siv.1_Nonsense_Mutation_p.K498*|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Nonsense_Mutation_p.K463* NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 511 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TCATTCTGTTTAACTGCCAGT 0.313 83 112 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32135892 32135892 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:32135892G>T uc001rks.2 + 4 2417 c.2003G>T c.(2002-2004)TGT>TTT p.C668F NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 668 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) GACAGTAGCTGTTCCATGGAA 0.423 23 28 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40657693 40657693 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:40657693C>A uc001rmg.3 + 14 1767 c.1646C>A c.(1645-1647)GCT>GAT p.A549D LRRK2_uc001rmh.1_Missense_Mutation_p.A171D NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 549 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTCCTAGCAGCTTTGAACAGG 0.323 23 48 --- --- --- --- PASS H1FNT 341567 broad.mit.edu 37 12 48723172 48723172 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:48723172G>A uc001rrm.2 + 1 410 c.98G>A c.(97-99)CGA>CAA p.R33Q NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 33 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 GGCGAATCCCGAGGACACTCA 0.657 5 28 --- --- --- --- PASS ZNF385A 25946 broad.mit.edu 37 12 54767862 54767862 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:54767862C>G uc001sfw.1 - 3 439 c.256G>C c.(256-258)GAG>CAG p.E86Q ZNF385A_uc001sfv.1_Missense_Mutation_p.E67Q|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.E86Q|ZNF385A_uc001sfx.1_Missense_Mutation_p.E86Q|ZNF385A_uc001sfy.3_Missense_Mutation_p.E106Q|ZNF385A_uc001sfz.3_Missense_Mutation_p.E106Q NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 TTGGCAGCCTCAATGCCTTTG 0.587 10 53 --- --- --- --- PASS OR6C1 390321 broad.mit.edu 37 12 55714515 55714515 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:55714515C>A uc010spi.1 + 1 132 c.132C>A c.(130-132)ATC>ATA p.I44I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TGACCCTTATCACAATTACCC 0.433 50 73 --- --- --- --- PASS NUP107 57122 broad.mit.edu 37 12 69085841 69085841 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:69085841G>C uc001suf.2 + 5 512 c.397G>C c.(397-399)GAT>CAT p.D133H NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.D104H NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 133 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TATAACAGAAGATGTAACTAT 0.428 18 85 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72036236 72036236 + Missense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:72036236T>A uc001swo.2 - 6 1966 c.1607A>T c.(1606-1608)GAT>GTT p.D536V NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 536 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GGTTTCACTATCTGTATCCAT 0.368 22 109 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72036237 72036237 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:72036237C>A uc001swo.2 - 6 1965 c.1606G>T c.(1606-1608)GAT>TAT p.D536Y NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 536 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GTTTCACTATCTGTATCCATA 0.368 22 109 --- --- --- --- PASS RAB21 23011 broad.mit.edu 37 12 72149021 72149021 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:72149021C>T uc001swt.2 + 1 364 c.112C>T c.(112-114)CGC>TGC p.R38C NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 38 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding 0 GCTGGTGCTGCGCTACTGCGA 0.557 5 10 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72338186 72338186 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:72338186T>C uc009zrw.1 + 3 509 c.368T>C c.(367-369)ATT>ACT p.I123T TPH2_uc001swy.2_Missense_Mutation_p.I33T NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 123 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) AATGAGCTCATTCAGTTGCTG 0.433 60 97 --- --- --- --- PASS SYT1 6857 broad.mit.edu 37 12 79685839 79685839 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:79685839G>C uc001sys.2 + 7 1074 c.403G>C c.(403-405)GAA>CAA p.E135Q SYT1_uc001syt.2_Missense_Mutation_p.E135Q|SYT1_uc001syu.2_Missense_Mutation_p.E132Q|SYT1_uc001syv.2_Missense_Mutation_p.E135Q NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 135 Cytoplasmic (Potential). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 AGAAGAAAAAGAAGAACCCAA 0.373 18 71 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85546834 85546834 + Silent SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:85546834A>T uc001tac.2 + 21 4563 c.4452A>T c.(4450-4452)TCA>TCT p.S1484S NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1484 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATGATACTTCATTTAATTTAC 0.284 51 89 --- --- --- --- PASS TMTC3 160418 broad.mit.edu 37 12 88588962 88588962 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:88588962G>C uc001tau.2 + 14 2501 c.2281G>C c.(2281-2283)GAA>CAA p.E761Q NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 762 TPR 9. integral to membrane binding skin(1) 1 AAAATGTTTTGAAAGGATTTT 0.333 24 71 --- --- --- --- PASS TMTC3 160418 broad.mit.edu 37 12 88589107 88589107 + Missense_Mutation SNP G A A rs111307435 byFrequency TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:88589107G>A uc001tau.2 + 14 2646 c.2426G>A c.(2425-2427)CGC>CAC p.R809H NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 810 integral to membrane binding skin(1) 1 TATATTCAGCGCCATTTGAAT 0.338 51 82 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100813710 100813710 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:100813710C>G uc010svi.1 + 12 1856 c.1543C>G c.(1543-1545)CTC>GTC p.L515V SLC17A8_uc009ztx.2_Missense_Mutation_p.L465V NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 515 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 CCCAGAGAATCTCTCTGAGGA 0.468 12 68 --- --- --- --- PASS ATP2A2 488 broad.mit.edu 37 12 110783838 110783838 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:110783838C>G uc001tqk.3 + 19 3337 c.2774C>G c.(2773-2775)CCC>CGC p.P925R ATP2A2_uc001tql.3_Missense_Mutation_p.P925R|ATP2A2_uc010sxy.1_Missense_Mutation_p.P898R|ATP2A2_uc001tqn.3_Missense_Mutation_p.P2R|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 925 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 CTGAGGATGCCCCCCTGGGAG 0.577 65 107 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132537712 132537712 + Silent SNP G A A rs141540187 byFrequency TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:132537712G>A uc001ujn.2 + 41 7451 c.7416G>A c.(7414-7416)CCG>CCA p.P2472P EP400_uc001ujl.2_Silent_p.P2471P|EP400_uc001ujm.2_Silent_p.P2391P NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2508 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ATGACAAGCCGCTGCCTCCCA 0.493 11 122 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133256810 133256810 + Splice_Site SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr12:133256810T>A uc001uks.1 - 4 330 c.286_splice c.e4-1 p.V96_splice POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.V69_splice NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAAAGCCACCTGTTAAGAGTC 0.468 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 41 64 --- --- --- --- PASS NUPL1 9818 broad.mit.edu 37 13 25914196 25914196 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr13:25914196C>G uc001uqi.2 + 16 1970 c.1724C>G c.(1723-1725)TCT>TGT p.S575C NUPL1_uc001uqj.2_Missense_Mutation_p.S563C NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 575 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) AATCCTGCCTCTGCAGGTTTT 0.458 4 129 --- --- --- --- PASS GPR183 1880 broad.mit.edu 37 13 99948238 99948238 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr13:99948238G>A uc001vog.2 - 2 336 c.162C>T c.(160-162)GTC>GTT p.V54V UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron NM_004951 NP_004942 P32249 GP183_HUMAN EBV-induced G protein-coupled receptor 2 54 Helical; Name=1; (Potential). humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 GAACAATGACGACCAAGGCTA 0.438 21 57 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109445971 109445971 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr13:109445971G>A uc001vqt.1 + 6 784 c.658G>A c.(658-660)GAT>AAT p.D220N MYO16_uc010agk.1_Missense_Mutation_p.D242N|MYO16_uc001vqu.1_Missense_Mutation_p.D20N NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 220 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TGAGAAAAACGATGAAGGAGT 0.338 8 38 --- --- --- --- PASS TOX4 9878 broad.mit.edu 37 14 21955802 21955802 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:21955802C>T uc001waz.2 + 3 371 c.268C>T c.(268-270)CAT>TAT p.H90Y TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.H67Y|TOX4_uc010tlv.1_Intron NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 90 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGGCATGACCCATGGCTTGAT 0.572 18 87 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23746292 23746292 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:23746292C>T uc001wja.2 - 2 293 c.145G>A c.(145-147)GAG>AAG p.E49K HOMEZ_uc001wjb.2_Missense_Mutation_p.E51K NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 49 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TGTAGCTCCTCAGAGATTGGA 0.542 9 37 --- --- --- --- PASS DHRS4L1 728635 broad.mit.edu 37 14 24507074 24507074 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:24507074C>G uc010alc.2 + 2 251 c.251C>G c.(250-252)ACG>AGG p.T84R DHRS4L1_uc010tnu.1_Intron NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 84 binding|oxidoreductase activity 0 CTGAGCATGACGGGCACTGTG 0.652 3 12 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24885022 24885022 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:24885022C>A uc001wpf.3 + 9 4385 c.4067C>A c.(4066-4068)GCA>GAA p.A1356E NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1356 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GCCCACCTGGCAGCCGTGGCC 0.612 9 88 --- --- --- --- PASS PTGER2 5732 broad.mit.edu 37 14 52781483 52781483 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:52781483G>A uc001wzr.2 + 1 468 c.217G>A c.(217-219)GAG>AAG p.E73K NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 73 Helical; Name=2; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GCTGGTGACCGAGCTGGTGTT 0.697 5 55 --- --- --- --- PASS CGRRF1 10668 broad.mit.edu 37 14 54989297 54989297 + Nonsense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:54989297C>G uc001xay.2 + 2 321 c.230C>G c.(229-231)TCA>TGA p.S77* CGRRF1_uc010tra.1_Nonsense_Mutation_p.S77*|CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 77 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 AATCCATCTTCAGCTTCAATT 0.363 38 91 --- --- --- --- PASS ESR2 2100 broad.mit.edu 37 14 64727439 64727439 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:64727439C>A uc001xha.1 - 5 1148 c.680G>T c.(679-681)CGC>CTC p.R227L ESR2_uc001xgu.2_Missense_Mutation_p.R227L|ESR2_uc001xgv.2_Missense_Mutation_p.R227L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R227L|ESR2_uc001xgy.1_Missense_Mutation_p.R227L|ESR2_uc001xgz.1_Missense_Mutation_p.R227L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R227L|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 227 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCGCACAAGGCGGTACCCACA 0.587 13 41 --- --- --- --- PASS KCNK13 56659 broad.mit.edu 37 14 90650863 90650863 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:90650863A>G uc001xye.1 + 2 1185 c.743A>G c.(742-744)AAC>AGC p.N248S NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 248 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) AGCAGCCAGAACGCCCACTAT 0.502 10 56 --- --- --- --- PASS KCNK13 56659 broad.mit.edu 37 14 90650864 90650864 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:90650864C>T uc001xye.1 + 2 1186 c.744C>T c.(742-744)AAC>AAT p.N248N NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 248 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GCAGCCAGAACGCCCACTATG 0.507 10 57 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102483504 102483504 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:102483504G>T uc001yks.2 + 39 8092 c.7928G>T c.(7927-7929)CGC>CTC p.R2643L DYNC1H1_uc001ykt.1_Missense_Mutation_p.R134L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2643 AAA 3 (By similarity). 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 GAGTACAGGCGCACACCTAAT 0.473 28 154 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105405346 105405346 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:105405346C>T uc010axc.1 - 7 16562 c.16442G>A c.(16441-16443)AGC>AAC p.S5481N AHNAK2_uc001ypx.2_Missense_Mutation_p.S5381N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5481 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCACTATGCTGTGTATAGT 0.478 3 27 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107283028 107283028 + RNA SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr14:107283028C>A uc010tyt.1 - 1 c.60G>T uc001ytb.1_Missense_Mutation_p.V39F Parts of antibodies, mostly variable regions. 0 TTGCAGGAGACCTTCACTGAG 0.572 59 113 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921369 24921369 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:24921369C>A uc001ywo.2 + 1 829 c.355C>A c.(355-357)CCC>ACC p.P119T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 119 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GATCCCTCCTCCCAGCCGCAT 0.652 38 54 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26806098 26806098 + Nonsense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:26806098G>C uc001zaz.2 - 8 1203 c.1061C>G c.(1060-1062)TCA>TGA p.S354* GABRB3_uc010uae.1_Nonsense_Mutation_p.S269*|GABRB3_uc001zba.2_Nonsense_Mutation_p.S354*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.S410* NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 354 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTCGCTCTTTGAACGGTCATT 0.483 17 274 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27185157 27185157 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:27185157G>A uc001zbd.1 + 10 1149 c.810G>A c.(808-810)ATG>ATA p.M270I GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 270 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCTGCATAATGACCGTGATCT 0.493 21 39 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33922206 33922206 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:33922206G>C uc001zhi.2 + 22 2815 c.2745G>C c.(2743-2745)GAG>GAC p.E915D RYR3_uc010bar.2_Missense_Mutation_p.E915D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 915 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGAAACTGAGAAGAACTATA 0.338 3 14 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43822282 43822282 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:43822282A>T uc001zrt.2 + 6 8739 c.8272A>T c.(8272-8274)ACT>TCT p.T2758S NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2758 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCTGATCCCTACTCATGACAC 0.517 32 57 --- --- --- --- PASS CATSPER2 117155 broad.mit.edu 37 15 43940214 43940214 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:43940214C>T uc001zsh.2 - 2 261 c.46G>A c.(46-48)GAT>AAT p.D16N CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsj.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsk.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsl.1_Intron NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 16 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CGAATGGCATCAGCTCGGGGA 0.488 64 286 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52615590 52615590 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:52615590G>C uc002aby.2 - 36 4931 c.4687C>G c.(4687-4689)CGA>GGA p.R1563G MYO5A_uc002abx.3_Missense_Mutation_p.R1536G|MYO5A_uc010ugd.1_Missense_Mutation_p.R285G NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1563 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGCAAAAATCGGCATGTGTTA 0.383 4 97 --- --- --- --- PASS MYO1E 4643 broad.mit.edu 37 15 59506474 59506474 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:59506474C>T uc002aga.2 - 12 1600 c.1228G>A c.(1228-1230)GAA>AAA p.E410K NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 410 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) TGCAGTTTTTCATTAACAAAA 0.279 15 55 --- --- --- --- PASS TRIP4 9325 broad.mit.edu 37 15 64701915 64701915 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:64701915G>A uc002anm.2 + 7 974 c.931G>A c.(931-933)GAG>AAG p.E311K NM_016213 NP_057297 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 311 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 GAAGCGAGAGGAGGAGCTGAG 0.463 21 96 --- --- --- --- PASS PDE8A 5151 broad.mit.edu 37 15 85643423 85643423 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:85643423C>A uc002blh.2 + 11 1219 c.1030C>A c.(1030-1032)CAT>AAT p.H344N PDE8A_uc002bli.2_Missense_Mutation_p.H298N|PDE8A_uc010bnc.2_Missense_Mutation_p.H97N|PDE8A_uc010bnd.2_Missense_Mutation_p.H97N|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 344 H -> R (in Ref. 2; AAK57641 and 6; AAC39763). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GTCTGACACTCATACAGGTAC 0.383 32 50 --- --- --- --- PASS TBC1D24 57465 broad.mit.edu 37 16 2546958 2546958 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:2546958G>T uc002cql.2 + 2 949 c.809G>T c.(808-810)CGC>CTC p.R270L TBC1D24_uc002cqk.2_Missense_Mutation_p.R270L|TBC1D24_uc002cqm.2_Missense_Mutation_p.R270L|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 270 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 CAGGACATCCGCACGTTCGTC 0.617 4 147 --- --- --- --- PASS OR1F1 4992 broad.mit.edu 37 16 3254528 3254528 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:3254528C>T uc010uwu.1 + 1 282 c.282C>T c.(280-282)TTC>TTT p.F94F NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCATCTCCTTCTGTGGCTGTC 0.502 7 300 --- --- --- --- PASS ZNF174 7727 broad.mit.edu 37 16 3458795 3458795 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:3458795C>T uc002cvc.2 + 3 1915 c.1100C>T c.(1099-1101)TCA>TTA p.S367L NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 367 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 GGGCGGCAGTCAACCCTGAAG 0.542 6 43 --- --- --- --- PASS UBN1 29855 broad.mit.edu 37 16 4924782 4924782 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:4924782C>T uc002cyb.2 + 15 2710 c.2371C>T c.(2371-2373)CAC>TAC p.H791Y UBN1_uc010uxw.1_Missense_Mutation_p.H791Y|UBN1_uc002cyc.2_Missense_Mutation_p.H791Y NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 791 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 ACGGACGTCTCACGGGCCCCA 0.572 24 200 --- --- --- --- PASS CIITA 4261 broad.mit.edu 37 16 11004059 11004059 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:11004059C>G uc002dai.3 + 13 2964 c.2831C>G c.(2830-2832)TCG>TGG p.S944W CIITA_uc002daj.3_Missense_Mutation_p.S945W|CIITA_uc002dak.3_Missense_Mutation_p.S360W|CIITA_uc010bup.1_Missense_Mutation_p.R341G NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 944 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 AGAAGTTCCTCGGAAGACACA 0.567 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 8 24 --- --- --- --- PASS SLC5A2 6524 broad.mit.edu 37 16 31494562 31494562 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:31494562G>A uc002ecf.3 + 1 124 c.105G>A c.(103-105)CTG>CTA p.L35L SLC5A2_uc010car.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 35 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 ATTTCCTGCTGGTCATTGGCG 0.597 56 97 --- --- --- --- PASS DNAJA2 10294 broad.mit.edu 37 16 46998598 46998598 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:46998598G>A uc002eeo.2 - 6 841 c.699C>T c.(697-699)TTC>TTT p.F233F DNAJA2_uc002eep.2_Silent_p.F150F NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 233 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CTTCCCCAGTGAATGTAATTC 0.418 52 196 --- --- --- --- PASS HSF4 3299 broad.mit.edu 37 16 67199689 67199689 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:67199689G>A uc002erl.1 + 5 1265 c.300G>A c.(298-300)GAG>GAA p.E100E HSF4_uc002erm.1_Silent_p.E100E|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 100 By similarity. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) ACCACGTCGAGTTCCAGCACC 0.711 20 6 --- --- --- --- PASS PSMB10 5699 broad.mit.edu 37 16 67968568 67968568 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:67968568G>A uc002eux.1 - 8 818 c.717C>T c.(715-717)GGC>GGT p.G239G CTRL_uc002euw.2_5'Flank NM_002801 NP_002792 P40306 PSB10_HUMAN proteasome beta 10 subunit proprotein 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) AGTGGTAGCGGCCAGACCTGG 0.597 4 174 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72821373 72821373 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr16:72821373G>C uc002fck.2 - 10 11475 c.10802C>G c.(10801-10803)TCG>TGG p.S3601W uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.S2687W NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3601 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGCGGCGGCCGACGGGGGAGG 0.652 12 50 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1543260 1543260 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:1543260G>A uc002fsz.1 - 6 1135 c.1085C>T c.(1084-1086)TCC>TTC p.S362F SCARF1_uc002fsy.1_Missense_Mutation_p.S362F|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 362 Extracellular (Potential).|EGF-like 6. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGTATCACAGGACCCCTGAAC 0.642 16 50 --- --- --- --- PASS ANKFY1 51479 broad.mit.edu 37 17 4084552 4084552 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:4084552C>A uc002fxq.1 - 16 2275 c.2237G>T c.(2236-2238)CGC>CTC p.R746L ANKFY1_uc002fxn.2_Missense_Mutation_p.R788L|ANKFY1_uc002fxo.2_Missense_Mutation_p.R747L|ANKFY1_uc002fxp.2_Missense_Mutation_p.R745L|ANKFY1_uc010ckp.2_Missense_Mutation_p.R688L NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 746 ANK 12. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 CTCAGACCTGCGAATAAGAAA 0.522 25 11 --- --- --- --- PASS ZNF232 7775 broad.mit.edu 37 17 5009402 5009402 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:5009402C>G uc002gas.2 - 5 1725 c.971G>C c.(970-972)AGA>ACA p.R324T ZNF232_uc002gar.1_Missense_Mutation_p.R342T|ZNF232_uc002gat.2_Missense_Mutation_p.R351T NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 324 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TGTATGAATTCTCTGATGCTG 0.458 53 77 --- --- --- --- PASS NEURL4 84461 broad.mit.edu 37 17 7232368 7232368 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:7232368G>A uc002gga.1 - 1 271 c.264C>T c.(262-264)ACC>ACT p.T88T NEURL4_uc002ggb.1_Silent_p.T88T|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 88 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CGATGCGGACGGTGAAGACGC 0.672 23 10 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:7578478G>C uc002gim.2 - 5 646 c.452C>G c.(451-453)CCC>CGC p.P151R TP53_uc002gig.1_Missense_Mutation_p.P151R|TP53_uc002gih.2_Missense_Mutation_p.P151R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19R|TP53_uc010cng.1_Missense_Mutation_p.P19R|TP53_uc002gii.1_Missense_Mutation_p.P19R|TP53_uc010cnh.1_Missense_Mutation_p.P151R|TP53_uc010cni.1_Missense_Mutation_p.P151R|TP53_uc002gij.2_Missense_Mutation_p.P151R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58R|TP53_uc002gio.2_Missense_Mutation_p.P19R|TP53_uc010vug.1_Missense_Mutation_p.P112R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (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.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607 111 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) 32 16 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12666802 12666802 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:12666802C>A uc002gnn.2 + 13 2957 c.2658C>A c.(2656-2658)CCC>CCA p.P886P MYOCD_uc002gno.2_Silent_p.P934P|MYOCD_uc002gnq.2_Silent_p.P610P NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 886 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTGAATCTCCCTGGGAAACCA 0.547 11 20 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18647967 18647967 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:18647967C>T uc002guk.2 + 1 642 c.410C>T c.(409-411)ACT>ATT p.T137I FBXW10_uc002guj.2_Missense_Mutation_p.T137I|FBXW10_uc002gul.2_Missense_Mutation_p.T137I|FBXW10_uc010cqh.1_Missense_Mutation_p.T137I NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 137 ovary(1) 1 GCGAATTATACTCTCTTACTG 0.438 71 36 --- --- --- --- PASS RAB34 83871 broad.mit.edu 37 17 27041699 27041699 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:27041699G>C uc002hce.2 - 10 1366 c.742C>G c.(742-744)CTA>GTA p.L248V PROCA1_uc002hca.1_5'Flank|RAB34_uc002hcg.2_Missense_Mutation_p.L240V|RAB34_uc002hcf.2_Missense_Mutation_p.L249V|RAB34_uc010was.1_Missense_Mutation_p.L305V|RAB34_uc010wat.1_Missense_Mutation_p.L297V|RAB34_uc002hch.2_Missense_Mutation_p.L248V|RAB34_uc010wau.1_Missense_Mutation_p.L226V|RAB34_uc010wav.1_Intron NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 248 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CTGGCAGTTAGGTAGAGGTTG 0.552 44 64 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27963527 27963527 + Missense_Mutation SNP T C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:27963527T>C uc002heo.1 - 14 1640 c.1640A>G c.(1639-1641)AAC>AGC p.N547S SSH2_uc010wbh.1_Missense_Mutation_p.N574S NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 547 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 GTCATTTAAGTTTAATTCATC 0.393 62 100 --- --- --- --- PASS CRLF3 51379 broad.mit.edu 37 17 29119460 29119460 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:29119460G>C uc002hfr.3 - 6 1066 c.957C>G c.(955-957)TTC>TTG p.F319L CRLF3_uc010wbr.1_Missense_Mutation_p.F203L NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 319 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) CTACTTGCCTGAATGTTAATG 0.294 25 115 --- --- --- --- PASS C17orf102 400591 broad.mit.edu 37 17 32906212 32906212 + Nonsense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:32906212G>A uc002hie.1 - 1 177 c.88C>T c.(88-90)CAG>TAG p.Q30* TMEM132E_uc002hif.2_5'Flank NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN hypothetical protein LOC400591 30 ovary(1) 1 AAACGCAGCTGAGGGAGGTGG 0.627 11 31 --- --- --- --- PASS PIP4K2B 8396 broad.mit.edu 37 17 36940500 36940500 + Missense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:36940500T>A uc002hqs.2 - 3 831 c.350A>T c.(349-351)TAC>TTC p.Y117F PIP4K2B_uc010wdt.1_Missense_Mutation_p.Y117F|PIP4K2B_uc010wdu.1_Missense_Mutation_p.Y53F NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 117 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 CCATACCTGGTAATCCTGATC 0.493 15 41 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40317507 40317507 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:40317507C>T uc002hzb.2 - 11 2378 c.2045G>A c.(2044-2046)CGG>CAG p.R682Q NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 682 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGTGAGGTCCCGGGGCAGGCC 0.632 5 140 --- --- --- --- PASS C1QL1 10882 broad.mit.edu 37 17 43045094 43045094 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:43045094G>T uc002ihv.2 - 1 551 c.323C>A c.(322-324)CCG>CAG p.P108Q NM_006688 NP_006679 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 108 Collagen-like. locomotory behavior collagen 0 Prostate(33;0.155) cggcagccccggagggcccgg 0.577 16 38 --- --- --- --- PASS C17orf57 124989 broad.mit.edu 37 17 45473328 45473328 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:45473328C>A uc002iln.2 + 17 2341 c.1930C>A c.(1930-1932)CTA>ATA p.L644I C17orf57_uc002ilm.2_Missense_Mutation_p.L548I NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 644 EF-hand 3. calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TGCATTGGAACTAGTGACAGT 0.328 50 87 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48266307 48266307 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:48266307C>T uc002iqm.2 - 41 3128 c.3002G>A c.(3001-3003)GGC>GAC p.G1001D NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1001 Triple-helical region. G -> C (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TCCAGGGGGGCCCATGGGACC 0.612 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 30 116 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54428207 54428207 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:54428207C>A uc002iun.1 + 4 313 c.278C>A c.(277-279)CCC>CAC p.P93H NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 93 large_intestine(1)|ovary(1) 2 CCCTCATCTCCCAACGCAGCC 0.453 51 74 --- --- --- --- PASS DCAF7 10238 broad.mit.edu 37 17 61661022 61661022 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:61661022G>C uc002jbc.2 + 6 904 c.687G>C c.(685-687)TGG>TGC p.W229C DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron NM_005828 NP_005819 P61962 DCAF7_HUMAN WD-repeat protein 229 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding ovary(1) 1 GCCTCTGCTGGAACAAGCAGG 0.572 13 39 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62018997 62018997 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:62018997C>T uc002jds.1 - 24 4722 c.4645G>A c.(4645-4647)GGG>AGG p.G1549R NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1549 IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TCTGGGGGCCCGCTGTTGAGG 0.597 4 38 --- --- --- --- PASS KPNA2 3838 broad.mit.edu 37 17 66040122 66040122 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:66040122C>T uc002jgk.2 + 8 1231 c.1099C>T c.(1099-1101)CAG>TAG p.Q367* KPNA2_uc002jgl.2_Nonsense_Mutation_p.Q367* NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 367 NLS binding site (minor) (By similarity).|ARM 8. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AGCCGGCCGCCAGGACCAGAT 0.468 63 215 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73486809 73486809 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:73486809C>T uc002jnz.3 + 11 1373 c.1098C>T c.(1096-1098)CTC>CTT p.L366L KIAA0195_uc010wsa.1_Silent_p.L376L|KIAA0195_uc010wsb.1_Silent_p.L18L NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 366 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGATACTCTCAGCAGCTATA 0.572 12 88 --- --- --- --- PASS SAP30BP 29115 broad.mit.edu 37 17 73702548 73702548 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:73702548A>G uc002jpe.2 + 11 928 c.874A>G c.(874-876)AAG>GAG p.K292E SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.K276E NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 292 Thr-rich. apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCGGCTCCAAGACCACCGT 0.612 61 150 --- --- --- --- PASS RHBDF2 79651 broad.mit.edu 37 17 74476009 74476009 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:74476009C>T uc002jrq.1 - 4 458 c.165G>A c.(163-165)AGG>AGA p.R55R RHBDF2_uc002jrp.1_Intron|RHBDF2_uc002jrr.1_Intron|RHBDF2_uc010wtf.1_Intron|RHBDF2_uc002jrs.1_Intron NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 55 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 TCTTTAGCCTCCTATTCTGAA 0.433 5 11 --- --- --- --- PASS GPS1 2873 broad.mit.edu 37 17 80012801 80012801 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:80012801C>A uc002kdl.1 + 5 694 c.649C>A c.(649-651)CAT>AAT p.H217N GPS1_uc002kdk.1_Missense_Mutation_p.H253N|GPS1_uc010dij.1_Missense_Mutation_p.H253N|GPS1_uc002kdm.1_Missense_Mutation_p.H197N|GPS1_uc002kdn.1_Missense_Mutation_p.H213N|GPS1_uc002kdo.1_Missense_Mutation_p.H217N|GPS1_uc010wvh.1_Missense_Mutation_p.H209N NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 217 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GAATTGGTCTCATGTGCTCAG 0.662 6 87 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80724167 80724167 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:80724167C>A uc002kfz.2 + 4 488 c.358C>A c.(358-360)CGT>AGT p.R120S TBCD_uc002kfx.1_Missense_Mutation_p.R103S|TBCD_uc002kfy.1_Missense_Mutation_p.R120S NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 120 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) AACATTTCTTCGTTTATTTCC 0.388 7 23 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43456279 43456279 + Nonsense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr18:43456279C>A uc002lbm.2 - 35 6071 c.5971G>T c.(5971-5973)GAG>TAG p.E1991* KIAA1632_uc010xcq.1_Nonsense_Mutation_p.E545*|KIAA1632_uc010xcr.1_Intron|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.E866* NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1991 autophagy 0 GTATCACTCTCTAGCCAGGGG 0.458 48 60 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46284376 46284376 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr18:46284376A>G uc002ldc.2 + 8 956 c.671A>G c.(670-672)CAG>CGG p.Q224R KIAA0427_uc002ldd.2_Missense_Mutation_p.Q224R|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 224 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 AGGGACCACCAGAAATCCTAC 0.632 102 110 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59899640 59899640 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr18:59899640G>C uc002lil.2 + 10 1815 c.1600G>C c.(1600-1602)GTG>CTG p.V534L KIAA1468_uc002lik.1_Missense_Mutation_p.V534L|KIAA1468_uc010xel.1_Missense_Mutation_p.V534L|KIAA1468_uc002lim.2_Missense_Mutation_p.V178L NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 534 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TGTTCCCAATGTGCTATTGGC 0.388 42 113 --- --- --- --- PASS KCNG2 26251 broad.mit.edu 37 18 77659303 77659303 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr18:77659303C>G uc010xfl.1 + 2 888 c.888C>G c.(886-888)CTC>CTG p.L296L NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 296 Helical; Voltage-sensor; Name=Segment S4; (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TGCGCGTGCTCTACGTGATGC 0.741 5 12 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2114168 2114168 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:2114168C>G uc002luz.2 - 22 2780 c.2557G>C c.(2557-2559)GAG>CAG p.E853Q AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E762Q|AP3D1_uc002lva.2_Missense_Mutation_p.E853Q NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 853 Lys-rich.|Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ctctctttctctttGTGTTTT 0.388 6 15 --- --- --- --- PASS ZFR2 23217 broad.mit.edu 37 19 3831804 3831804 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:3831804G>T uc002lyw.2 - 4 464 c.452C>A c.(451-453)CCC>CAC p.P151H ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 151 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CTCCACTATGGGCGCCTGCTG 0.677 5 24 --- --- --- --- PASS SAFB 6294 broad.mit.edu 37 19 5664121 5664121 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:5664121G>A uc002mcf.2 + 16 2295 c.2242G>A c.(2242-2244)GAC>AAC p.D748N SAFB_uc002mcg.2_Missense_Mutation_p.D748N|SAFB_uc002mce.3_Missense_Mutation_p.D747N|SAFB_uc010xir.1_Missense_Mutation_p.D747N|SAFB_uc010xis.1_Missense_Mutation_p.D679N|SAFB_uc010xit.1_Missense_Mutation_p.D590N|SAFB_uc010xiu.1_Missense_Mutation_p.D547N NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 748 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CCGCTTCCACGACTTTGACCA 0.627 5 80 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6904052 6904052 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:6904052G>C uc002mfw.2 + 8 846 c.808G>C c.(808-810)GAT>CAT p.D270H EMR1_uc010dvc.2_Missense_Mutation_p.D270H|EMR1_uc010dvb.2_Missense_Mutation_p.D218H|EMR1_uc010xji.1_Missense_Mutation_p.D129H|EMR1_uc010xjj.1_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 270 Extracellular (Potential).|EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TGCAGATATTGATGAGTGCCG 0.463 43 74 --- --- --- --- PASS PNPLA6 10908 broad.mit.edu 37 19 7620527 7620527 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:7620527G>C uc010xjq.1 + 26 3196 c.3001G>C c.(3001-3003)GAG>CAG p.E1001Q PNPLA6_uc002mgq.1_Missense_Mutation_p.E953Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.E926Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.E953Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.E991Q|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 992 Patatin.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 AAAGGCATTAGAGGAGGCGGG 0.662 7 48 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9583891 9583891 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:9583891C>G uc002mlp.1 - 5 412 c.202G>C c.(202-204)GAA>CAA p.E68Q ZNF560_uc010dwr.1_5'UTR NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 68 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CTCAACTCTTCTTCTTCCAAC 0.353 104 200 --- --- --- --- PASS LPPR2 64748 broad.mit.edu 37 19 11474413 11474413 + Nonsense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:11474413C>T uc002mre.1 + 8 1202 c.865C>T c.(865-867)CAG>TAG p.Q289* LPPR2_uc002mrf.1_Nonsense_Mutation_p.Q264*|LPPR2_uc010dxy.1_Nonsense_Mutation_p.Q96* NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 289 integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 GCATAACTTTCAGAGCCGGCC 0.512 19 65 --- --- --- --- PASS ZNF709 163051 broad.mit.edu 37 19 12575430 12575430 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:12575430G>C uc002mtv.3 - 4 1467 c.1306C>G c.(1306-1308)CGA>GGA p.R436G ZNF709_uc002mtw.3_Missense_Mutation_p.R404G|ZNF709_uc002mtx.3_Missense_Mutation_p.R436G NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 436 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATGTATTCGAACAGAACTG 0.408 15 209 --- --- --- --- PASS ZNF709 163051 broad.mit.edu 37 19 12577613 12577613 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:12577613C>T uc002mtv.3 - 2 216 c.55G>A c.(55-57)GCT>ACT p.A19T ZNF709_uc002mtw.3_5'UTR|ZNF709_uc002mtx.3_Missense_Mutation_p.A19T NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCCAGCAAAGCCCACTCCTCC 0.473 7 103 --- --- --- --- PASS MRI1 84245 broad.mit.edu 37 19 13875456 13875456 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:13875456G>T uc002mxe.2 + 1 120 c.54G>T c.(52-54)CAG>CAT p.Q18H MRI1_uc002mxf.2_Missense_Mutation_p.Q18H NM_001031727 NP_001026897 Q9BV20 MTNA_HUMAN translation initiation factor eIF-2B subunit 18 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity ovary(1) 1 TCCTAGACCAGCTGCTGCTGC 0.612 5 41 --- --- --- --- PASS BRD4 23476 broad.mit.edu 37 19 15349587 15349587 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:15349587C>A uc002nar.2 - 19 4209 c.3987G>T c.(3985-3987)CGG>CGT p.R1329R NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1329 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCTCCCGCTTCCGGGCCAACT 0.622 T NUT|C15orf55 lethal midline carcinoma of young people 5 31 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19120951 19120951 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:19120951C>G uc002nkx.2 - 5 2197 c.2051G>C c.(2050-2052)CGT>CCT p.R684P SFRS14_uc002nkz.1_Missense_Mutation_p.R698P|SFRS14_uc002nla.1_Missense_Mutation_p.R684P|SFRS14_uc002nlb.2_Missense_Mutation_p.R684P|SFRS14_uc010xqk.1_Missense_Mutation_p.R453P NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 684 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CCCTTGAGCACGGAGGAGCCC 0.667 49 90 --- --- --- --- PASS ZNF100 163227 broad.mit.edu 37 19 21910548 21910548 + Missense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:21910548A>T uc002nqi.2 - 5 765 c.566T>A c.(565-567)TTT>TAT p.F189Y ZNF100_uc002nqh.2_Missense_Mutation_p.F125Y NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 189 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAATTTGAAAATGTATGAAA 0.299 23 168 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156018 22156018 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:22156018C>T uc002nqp.2 - 5 1667 c.1518G>A c.(1516-1518)GAG>GAA p.E506E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGGGTTTCTCACCAGTAT 0.363 21 79 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22157258 22157258 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:22157258C>G uc002nqp.2 - 4 727 c.578G>C c.(577-579)AGA>ACA p.R193T ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTATAAATTCTTTTATGTTG 0.353 39 61 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22375890 22375890 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:22375890G>T uc002nqs.1 - 2 376 c.58C>A c.(58-60)CTG>ATG p.L20M NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAATGATCAGGTCTGGCTTA 0.403 31 58 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34833290 34833290 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:34833290C>A uc002nvd.3 + 10 3310 c.2451C>A c.(2449-2451)ACC>ACA p.T817T NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 817 ovary(1) 1 Esophageal squamous(110;0.162) GAAATAACACCTGGCCCAACC 0.517 62 122 --- --- --- --- PASS ZNF585B 92285 broad.mit.edu 37 19 37677991 37677991 + Missense_Mutation SNP T G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:37677991T>G uc002ofq.2 - 5 702 c.448A>C c.(448-450)AAA>CAA p.K150Q ZNF585B_uc002ofr.1_Intron NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTAGGAACTTTCAGATGTACC 0.388 61 89 --- --- --- --- PASS ZNF571 51276 broad.mit.edu 37 19 38055520 38055520 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:38055520G>A uc002ogt.2 - 4 1911 c.1810C>T c.(1810-1812)CAT>TAT p.H604Y uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.H604Y NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 604 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCCTTGTATGTTGAGTAAGT 0.348 24 33 --- --- --- --- PASS ZNF571 51276 broad.mit.edu 37 19 38056780 38056780 + Nonsense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:38056780G>A uc002ogt.2 - 4 651 c.550C>T c.(550-552)CAA>TAA p.Q184* uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.Q184* NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 184 C2H2-type 2; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTGATGTTGAATATAGCTT 0.363 18 70 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38573263 38573263 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:38573263A>G uc002ohk.2 + 3 1567 c.1058A>G c.(1057-1059)AAC>AGC p.N353S NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 353 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TTCGACCTCAACGAGGCGGCC 0.706 26 34 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38956903 38956903 + Missense_Mutation SNP C A A rs139006437 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:38956903C>A uc002oit.2 + 24 3173 c.3043C>A c.(3043-3045)CGC>AGC p.R1015S RYR1_uc002oiu.2_Missense_Mutation_p.R1015S NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1015 6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCCCAGCGCGCCGAAACCC 0.677 11 31 --- --- --- --- PASS PVRL2 5819 broad.mit.edu 37 19 45375120 45375120 + Silent SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:45375120G>A uc002ozw.1 + 3 879 c.489G>A c.(487-489)AAG>AAA p.K163K PVRL2_uc002ozv.2_Silent_p.K163K NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 163 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCAAGCCCAAGAACCAAGCTG 0.547 10 25 --- --- --- --- PASS CCDC8 83987 broad.mit.edu 37 19 46915713 46915713 + Nonsense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:46915713G>A uc002pep.2 - 1 1207 c.355C>T c.(355-357)CAG>TAG p.Q119* NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 119 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CGCGGGCCCTGGCGGCTCTTG 0.642 48 74 --- --- --- --- PASS GRIN2D 2906 broad.mit.edu 37 19 48945182 48945182 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:48945182C>T uc002pjc.3 + 11 2497 c.2409C>T c.(2407-2409)ATC>ATT p.I803I GRIN2D_uc010elx.2_Silent_p.I38I NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 803 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) AGCGGCCCATCGACCTGGCGT 0.602 4 66 --- --- --- --- PASS HAS1 3036 broad.mit.edu 37 19 52220298 52220298 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:52220298C>G uc002pxo.1 - 3 886 c.851G>C c.(850-852)CGA>CCA p.R284P HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.R249P|HAS1_uc002pxn.1_Missense_Mutation_p.R291P|HAS1_uc002pxp.1_Missense_Mutation_p.R283P NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 284 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TACCCAGTATCGCAGGCTGCT 0.597 33 101 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53270592 53270592 + Nonsense_Mutation SNP A T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:53270592A>T uc002qab.3 - 3 703 c.417T>A c.(415-417)TAT>TAA p.Y139* NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AATTATTCCCATAGTTATTAG 0.373 80 133 --- --- --- --- PASS MIR518E 574487 broad.mit.edu 37 19 54233171 54233171 + RNA SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:54233171G>A hsa-mir-518e|MI0003169 + c.80G>A MIR518A1_hsa-mir-518a-1|MI0003170_5'Flank 0 GAGTGTTAACGCTTTGAGAAA 0.403 5 63 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54310894 54310894 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:54310894C>T uc002qch.3 - 4 2318 c.2098G>A c.(2098-2100)GCC>ACC p.A700T NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Missense_Mutation_p.A700T|NLRP12_uc002qcj.3_Missense_Mutation_p.A701T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A701T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 700 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCACTGTAGGCGTCCAGCAGA 0.552 13 70 --- --- --- --- PASS PPP1R12C 54776 broad.mit.edu 37 19 55607648 55607648 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:55607648G>T uc002qix.2 - 7 1023 c.1007C>A c.(1006-1008)TCT>TAT p.S336Y PPP1R12C_uc010yfs.1_Missense_Mutation_p.S262Y|PPP1R12C_uc002qiy.2_Missense_Mutation_p.S336Y NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 336 cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TTTGCTGCTAGAGGGCGCTTG 0.652 82 202 --- --- --- --- PASS ZNF776 284309 broad.mit.edu 37 19 58265931 58265931 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:58265931A>C uc002qpx.2 + 3 1656 c.1433A>C c.(1432-1434)CAT>CCT p.H478P ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.H478P NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 478 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) CTCATTCGACATCAGCAGATT 0.453 39 44 --- --- --- --- PASS ZNF418 147686 broad.mit.edu 37 19 58438048 58438048 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:58438048G>C uc002qqs.1 - 4 1793 c.1501C>G c.(1501-1503)CAG>GAG p.Q501E ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.Q416E NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 501 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TGAACTCTCTGATGAACACGA 0.448 36 158 --- --- --- --- PASS ZNF606 80095 broad.mit.edu 37 19 58490952 58490952 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:58490952C>A uc002qqw.2 - 7 1714 c.1096G>T c.(1096-1098)GGT>TGT p.G366C ZNF606_uc010yhp.1_Missense_Mutation_p.G276C NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TCTACAGTACCAATTTTTTGA 0.343 54 100 --- --- --- --- PASS ZNF544 27300 broad.mit.edu 37 19 58773197 58773197 + Nonsense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr19:58773197G>T uc010euo.2 + 7 1699 c.1225G>T c.(1225-1227)GAG>TAG p.E409* ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Nonsense_Mutation_p.E381*|ZNF544_uc010yhy.1_Nonsense_Mutation_p.E381*|ZNF544_uc002qrt.3_Nonsense_Mutation_p.E267*|ZNF544_uc002qru.3_Nonsense_Mutation_p.E267*|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 409 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GAAGCCCTATGAGTGTGACCT 0.448 15 98 --- --- --- --- PASS SIRPB2 284759 broad.mit.edu 37 20 1456912 1456912 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:1456912G>A uc002wfg.2 - 5 1157 c.929C>T c.(928-930)GCC>GTC p.A310V SIRPB2_uc002wfh.3_Missense_Mutation_p.A212V NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 310 Cytoplasmic (Potential). integral to membrane 0 GGTAGCCAGGGCCAGTAGGAG 0.602 5 144 --- --- --- --- PASS SMOX 54498 broad.mit.edu 37 20 4163303 4163303 + Missense_Mutation SNP G C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:4163303G>C uc002wkm.1 + 5 1378 c.1177G>C c.(1177-1179)GAG>CAG p.E393Q SMOX_uc002wkk.1_Missense_Mutation_p.E340Q|SMOX_uc002wkl.1_Missense_Mutation_p.E340Q|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.E393Q|SMOX_uc010zqo.1_Missense_Mutation_p.E317Q|SMOX_uc002wko.1_Missense_Mutation_p.E393Q NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 393 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) GGACGAAGCAGAGAGCCACAC 0.597 15 82 --- --- --- --- PASS BTBD3 22903 broad.mit.edu 37 20 11903866 11903866 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:11903866G>A uc002wnz.2 + 4 1480 c.1121G>A c.(1120-1122)CGC>CAC p.R374H BTBD3_uc002wny.2_Missense_Mutation_p.R313H|BTBD3_uc002woa.2_Missense_Mutation_p.R313H|BTBD3_uc010zrf.1_Missense_Mutation_p.R223H|BTBD3_uc010zrg.1_Missense_Mutation_p.R223H|BTBD3_uc010zrh.1_Missense_Mutation_p.R223H NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 374 ovary(2)|central_nervous_system(1) 3 GTCCCCCAGCGCTGTCACCGT 0.502 9 82 --- --- --- --- PASS NAPB 63908 broad.mit.edu 37 20 23401981 23401981 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:23401981C>G uc002wta.2 - 1 176 c.59G>C c.(58-60)CGA>CCA p.R20P NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.R20P|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.R20P NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 20 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) GGCCTTGACTCGCTTCTCGGC 0.701 3 4 --- --- --- --- PASS DUSP15 128853 broad.mit.edu 37 20 30436696 30436696 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:30436696C>T uc002wwu.1 - 9 716 c.639G>A c.(637-639)CCG>CCA p.P213P Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 213 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACTTTGGGTCCGGTGACCATC 0.567 14 26 --- --- --- --- PASS EPB41L1 2036 broad.mit.edu 37 20 34761748 34761748 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:34761748G>A uc002xfb.2 + 2 220 c.49G>A c.(49-51)GAG>AAG p.E17K EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.E17K|EPB41L1_uc002xev.2_Missense_Mutation_p.E17K|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.E17K|EPB41L1_uc002xez.2_Intron NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 17 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) AGCTCAGGAGGAGGCCCCGCA 0.622 8 65 --- --- --- --- PASS DOK5 55816 broad.mit.edu 37 20 53205259 53205259 + Missense_Mutation SNP A C C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr20:53205259A>C uc002xwy.2 + 4 543 c.323A>C c.(322-324)CAG>CCG p.Q108P DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 108 PH. insulin receptor binding ovary(1) 1 Colorectal(105;0.202) AAAGTACTCCAGATGGAGTGT 0.453 36 55 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19713822 19713822 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr21:19713822G>A uc002ykw.2 - 13 1503 c.1472C>T c.(1471-1473)GCG>GTG p.A491V NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 491 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GTCATCCAACGCAATATCACT 0.388 4 99 --- --- --- --- PASS SLC7A4 6545 broad.mit.edu 37 22 21384233 21384233 + Missense_Mutation SNP G T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:21384233G>T uc002zud.2 - 3 1458 c.1390C>A c.(1390-1392)CCC>ACC p.P464T SLC7A4_uc002zue.2_Missense_Mutation_p.P464T NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 464 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCCAGGTAGGGCCTCAGGGCT 0.617 5 75 --- --- --- --- PASS TOP3B 8940 broad.mit.edu 37 22 22324733 22324733 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:22324733C>T uc002zvs.2 - 6 865 c.430G>A c.(430-432)GAG>AAG p.E144K TOP3B_uc010gtm.1_5'Flank|TOP3B_uc002zvr.2_5'Flank|TOP3B_uc010gtl.2_Missense_Mutation_p.E144K|TOP3B_uc002zvt.3_Missense_Mutation_p.E144K NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 144 Toprim. DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) ACGGTCTTCTCGCCACCATGG 0.612 10 41 --- --- --- --- PASS PIWIL3 440822 broad.mit.edu 37 22 25145673 25145673 + Silent SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:25145673C>G uc003abd.1 - 10 1620 c.1203G>C c.(1201-1203)CTG>CTC p.L401L PIWIL3_uc011ajx.1_Silent_p.L292L|PIWIL3_uc011ajy.1_Silent_p.L292L|PIWIL3_uc010gut.1_Silent_p.L401L NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 401 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 TCATGTGGCACAGCTGAGGAA 0.478 22 40 --- --- --- --- PASS ZNRF3 84133 broad.mit.edu 37 22 29445639 29445639 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:29445639C>T uc003aeg.2 + 8 1335 c.1170C>T c.(1168-1170)CTC>CTT p.L390L ZNRF3_uc003aeh.1_Silent_p.L390L NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 490 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 CACCTAGCCTCGCACCCCGGG 0.682 7 25 --- --- --- --- PASS ZNRF3 84133 broad.mit.edu 37 22 29446217 29446217 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:29446217C>T uc003aeg.2 + 8 1913 c.1748C>T c.(1747-1749)TCA>TTA p.S583L ZNRF3_uc003aeh.1_Missense_Mutation_p.S583L NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 683 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 AGCTCTACCTCAGAAGTGGGG 0.662 21 116 --- --- --- --- PASS KREMEN1 83999 broad.mit.edu 37 22 29490392 29490392 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:29490392G>A uc011akm.1 + 2 257 c.244G>A c.(244-246)GAG>AAG p.E82K KREMEN1_uc003ael.2_Missense_Mutation_p.E82K|KREMEN1_uc011akn.1_5'UTR NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 80 Extracellular (Potential).|Kringle. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 GGGCCTGGGTGAGCACAACTA 0.483 35 53 --- --- --- --- PASS MORC2 22880 broad.mit.edu 37 22 31345808 31345808 + Nonsense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:31345808G>A uc003aje.1 - 6 1425 c.61C>T c.(61-63)CAG>TAG p.Q21* NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 83 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 TTCCCAAACTGGATCACACTG 0.478 30 82 --- --- --- --- PASS C1QTNF6 114904 broad.mit.edu 37 22 37578732 37578732 + Missense_Mutation SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:37578732C>A uc003aqw.1 - 2 781 c.276G>T c.(274-276)ATG>ATT p.M92I C1QTNF6_uc003aqx.1_Missense_Mutation_p.M111I|C1QTNF6_uc003aqy.1_Missense_Mutation_p.M111I|C1QTNF6_uc003aqz.1_Intron NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 92 Collagen-like. collagen 0 CCTCCCTGCCCATGTACCCTG 0.657 8 42 --- --- --- --- PASS MICALL1 85377 broad.mit.edu 37 22 38323472 38323472 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:38323472C>T uc003aui.2 + 9 1604 c.1520C>T c.(1519-1521)CCA>CTA p.P507L NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 507 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) ACACCATCGCCAGCGCTCAGC 0.672 14 48 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50170800 50170800 + Silent SNP C A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr22:50170800C>A uc003biv.2 - 9 3097 c.2610G>T c.(2608-2610)GCG>GCT p.A870A BRD1_uc011arf.1_Silent_p.A596A|BRD1_uc011arg.1_Silent_p.A919A|BRD1_uc011arh.1_Silent_p.A870A|BRD1_uc003biu.3_Silent_p.A1001A NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 870 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CACATTTGGGCGCATTAAAGC 0.637 48 105 --- --- --- --- PASS CRLF2 64109 broad.mit.edu 37 X 1325354 1325354 + RNA SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:1325354G>A uc004cpm.1 - 3 c.321C>T Q9HC73 CRLF2_HUMAN Homo sapiens mRNA for IL-XR, complete cds. extracellular region|integral to membrane|plasma membrane receptor activity haematopoietic_and_lymphoid_tissue(7) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GACTTGCGGTGAAAACGGGGT 0.493 Mis|T P2RY8|IGH@ B-ALL|Downs associated ALL 17 181 --- --- --- --- PASS OFD1 8481 broad.mit.edu 37 X 13771542 13771542 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:13771542G>A uc004cvp.3 + 11 1470 c.1111G>A c.(1111-1113)GAT>AAT p.D371N OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.D231N|OFD1_uc010nen.2_Missense_Mutation_p.D370N|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D330N|OFD1_uc004cvv.3_Missense_Mutation_p.D330N|OFD1_uc010neo.1_Missense_Mutation_p.D117N NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 371 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 ACTGATTGAAGATGAAAGGAA 0.363 131 16 --- --- --- --- PASS BMX 660 broad.mit.edu 37 X 15540664 15540664 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:15540664C>G uc004cww.2 + 7 894 c.706C>G c.(706-708)CCA>GCA p.P236A BMX_uc004cwx.3_Missense_Mutation_p.P236A|BMX_uc004cwy.3_Missense_Mutation_p.P236A NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 236 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) GCAGTATATTCCAAGGGAAGA 0.483 25 120 --- --- --- --- PASS TMEM27 57393 broad.mit.edu 37 X 15646095 15646095 + Silent SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:15646095C>T uc004cxc.1 - 6 924 c.668G>A c.(667-669)TGA>TAA p.*223* NM_020665 NP_065716 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 precursor 223 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity ovary(1) 1 Hepatocellular(33;0.183) AACAGCCCTTCAGAGAGGGGT 0.438 11 53 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64753613 64753613 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:64753613G>A uc004dwa.1 - 2 311 c.239C>T c.(238-240)TCA>TTA p.S80L LAS1L_uc004dwc.1_Missense_Mutation_p.S80L|LAS1L_uc004dwd.1_Intron NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 80 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TTCGTTGCCTGACCTAAAGGG 0.517 14 18 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433467 72433467 + Missense_Mutation SNP C G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:72433467C>G uc004ebi.2 - 1 1218 c.862G>C c.(862-864)GAA>CAA p.E288Q NAP1L2_uc011mqj.1_Missense_Mutation_p.E146Q NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 288 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AAGTGAAATTCTAGTGTGAAA 0.383 4 72 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72434097 72434097 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:72434097C>T uc004ebi.2 - 1 588 c.232G>A c.(232-234)GAT>AAT p.D78N NAP1L2_uc011mqj.1_Intron NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 78 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) TCATCAGTATCGCCACCTTTT 0.498 5 72 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694327 109694327 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:109694327C>T uc004eor.1 + 3 728 c.482C>T c.(481-483)TCT>TTT p.S161F RGAG1_uc011msr.1_Missense_Mutation_p.S161F NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 161 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCACCAGATTCTGCAGAGATA 0.483 30 71 --- --- --- --- PASS PGRMC1 10857 broad.mit.edu 37 X 118370591 118370591 + Missense_Mutation SNP A G G TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:118370591A>G uc004erb.2 + 1 381 c.265A>G c.(265-267)ATA>GTA p.I89V PGRMC1_uc011mts.1_Missense_Mutation_p.I89V NM_006667 NP_006658 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 89 Cytochrome b5 heme-binding.|Cytoplasmic (Potential). cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding 0 GGACCCGCGCATACTCATGGC 0.677 11 5 --- --- --- --- PASS CT47A6 728062 broad.mit.edu 37 X 120094533 120094533 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:120094533C>T uc004eth.2 - 1 805 c.550G>A c.(550-552)GAG>AAG p.E184K CT47A1_uc004eti.2_Intron NM_001080141 NP_001073610 Q5JQC4 CT47A_HUMAN cancer/testis antigen family 47, member A6 184 0 CCCAGGCCCTCGCCCGCCCGG 0.746 23 97 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130215674 130215674 + Missense_Mutation SNP G A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:130215674G>A uc004evz.2 + 2 380 c.35G>A c.(34-36)AGG>AAG p.R12K ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 12 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AAGGCAGCAAGGGCACTGTGC 0.522 66 16 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144906425 144906425 + Missense_Mutation SNP T A A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:144906425T>A uc004fcd.2 + 5 3472 c.2482T>A c.(2482-2484)TCA>ACA p.S828T SLITRK2_uc010nsp.2_Missense_Mutation_p.S828T|SLITRK2_uc010nso.2_Missense_Mutation_p.S828T|SLITRK2_uc011mwq.1_Missense_Mutation_p.S828T|SLITRK2_uc011mwr.1_Missense_Mutation_p.S828T|SLITRK2_uc011mws.1_Missense_Mutation_p.S828T|SLITRK2_uc004fcg.2_Missense_Mutation_p.S828T|SLITRK2_uc011mwt.1_Missense_Mutation_p.S828T|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 828 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TAAGCCGCAATCAGAACCGGA 0.458 16 70 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144906426 144906426 + Missense_Mutation SNP C T T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrX:144906426C>T uc004fcd.2 + 5 3473 c.2483C>T c.(2482-2484)TCA>TTA p.S828L SLITRK2_uc010nsp.2_Missense_Mutation_p.S828L|SLITRK2_uc010nso.2_Missense_Mutation_p.S828L|SLITRK2_uc011mwq.1_Missense_Mutation_p.S828L|SLITRK2_uc011mwr.1_Missense_Mutation_p.S828L|SLITRK2_uc011mws.1_Missense_Mutation_p.S828L|SLITRK2_uc004fcg.2_Missense_Mutation_p.S828L|SLITRK2_uc011mwt.1_Missense_Mutation_p.S828L|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 828 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AAGCCGCAATCAGAACCGGAC 0.458 16 70 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176794784 176794784 + Frame_Shift_Del DEL C - - TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr2:176794784delC uc002ukc.1 - 13 1391 c.1198delG c.(1198-1200)GCCfs p.A400fs KIAA1715_uc010zer.1_Frame_Shift_Del_p.A431fs|KIAA1715_uc010fqw.1_Frame_Shift_Del_p.A466fs|KIAA1715_uc010zes.1_Frame_Shift_Del_p.A402fs|KIAA1715_uc002ukd.1_Frame_Shift_Del_p.A277fs|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 400 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ATCACTGAGGCTTCCTCATTC 0.433 116 68 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108043724 108043724 + Frame_Shift_Del DEL A - - TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr11:108043724delA uc001pjz.3 - 13 2089 c.1987delT c.(1987-1989)TCAfs p.S663fs NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Frame_Shift_Del_p.S458fs NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 663 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) ACAGAAGATGAAGGCTCCTGT 0.398 68 44 --- --- --- --- GRK1 6011 broad.mit.edu 37 13 114321992 114321992 + Frame_Shift_Del DEL G - - TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr13:114321992delG uc010tkf.1 + 1 399 c.291delG c.(289-291)ACGfs p.T97fs NM_002929 NP_002920 Q15835 RK_HUMAN rhodopsin kinase precursor 97 RGS.|N-terminal. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) ACTATGACACGGCAGACAATG 0.582 7 23 --- --- --- --- ELL3 80237 broad.mit.edu 37 15 44066423 44066427 + Frame_Shift_Del DEL CCCAG - - rs139597518 TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr15:44066423_44066427delCCCAG uc001zsw.1 - 9 1394_1398 c.991_995delCTGGG c.(991-996)CTGGGAfs p.L331fs ELL3_uc001zsv.1_Frame_Shift_Del_p.L285fs|ELL3_uc001zsx.1_Frame_Shift_Del_p.L216fs|uc001zsy.2_5'Flank NM_025165 NP_079441 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 331_332 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex ovary(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) AATCTCTGCTCCCAGCTCTATGAAC 0.507 89 45 --- --- --- --- MYH2 4620 broad.mit.edu 37 17 10432354 10432354 + Frame_Shift_Del DEL C - - TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chr17:10432354delC uc010coi.2 - 27 3525 c.3397delG c.(3397-3399)GCCfs p.A1133fs uc002gml.1_Intron|MYH2_uc002gmp.3_Frame_Shift_Del_p.A1133fs|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1133 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GCCCGGGAGGCCCGCTCTGCC 0.602 29 41 --- --- --- --- Unknown 0 broad.mit.edu 37 M 9478 9478 + RNA DEL T - - TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8 e987bceb-d835-432f-968a-9369f1d58541 g.chrM:9478delT uc011mfi.1 + 1 c.816delT uc004cov.3_5'Flank|uc004cow.1_5'Flank|uc004cox.3_5'Flank Homo sapiens mRNA for OK/SW-CL.16, complete cds. TACCTCAGAAGTTTTTTTCTT 0.522 34 75 --- --- --- ---