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 TPRG1L 127262 broad.mit.edu 37 1 3544178 3544178 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:3544178G>T uc001akm.2 + 4 666 c.585G>T c.(583-585)CCG>CCT p.P195P TPRG1L_uc009vlj.2_Silent_p.P136P NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 195 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) CAGAACACCCGATGGCTGGCG 0.532 13 49 --- --- --- --- PASS PRDM2 7799 broad.mit.edu 37 1 14108874 14108874 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:14108874G>T uc001avi.2 + 8 5440 c.4584G>T c.(4582-4584)CAG>CAT p.Q1528H PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.Q1528H|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.Q1327H|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1528 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAAGCATGCAGACTCCGTTGG 0.537 27 23 --- --- --- --- PASS MUL1 79594 broad.mit.edu 37 1 20827763 20827763 + Missense_Mutation SNP T G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:20827763T>G uc001bdi.3 - 4 636 c.479A>C c.(478-480)CAC>CCC p.H160P NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 160 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) AATCGAGGGGTGGAACTTCTC 0.597 4 47 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 41979252 41979252 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:41979252C>A uc001cgz.3 - 8 6853 c.5640G>T c.(5638-5640)GAG>GAT p.E1880D HIVEP3_uc001cha.3_Missense_Mutation_p.E1880D|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1880 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCGGGGGCGCCTCTGAGGATG 0.652 13 9 --- --- --- --- PASS TMEM125 128218 broad.mit.edu 37 1 43738664 43738664 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:43738664G>A uc001cir.2 + 4 841 c.271G>A c.(271-273)GTG>ATG p.V91M EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.V91M NM_144626 NP_653227 Q96AQ2 TM125_HUMAN transmembrane protein 125 91 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAGCTCGGCTGTGCAGGACAT 0.637 6 8 --- --- --- --- PASS FAM159A 348378 broad.mit.edu 37 1 53108615 53108615 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:53108615T>A uc001cuf.2 + 2 363 c.263T>A c.(262-264)CTG>CAG p.L88Q FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 88 Helical; (Potential). integral to membrane 0 CTCTGCTACCTGTTCATCAGC 0.522 6 110 --- --- --- --- PASS IL12RB2 3595 broad.mit.edu 37 1 67861305 67861305 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:67861305A>G uc001ddu.2 + 16 2762 c.2122A>G c.(2122-2124)AGT>GGT p.S708G IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S622G|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 708 Cytoplasmic (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 GCTGGTCATCAGTGAAGTCCT 0.542 12 22 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76387906 76387906 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:76387906G>T uc001dhe.1 - 2 680 c.540C>A c.(538-540)AAC>AAA p.N180K ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 180 intracellular signal transduction ovary(1) 1 TTAAGACAATGTTGATAGGGT 0.363 17 18 --- --- --- --- PASS SSX2IP 117178 broad.mit.edu 37 1 85124070 85124070 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:85124070G>C uc001dkh.2 - 10 1284 c.1009C>G c.(1009-1011)CAG>GAG p.Q337E SSX2IP_uc001dkf.2_Missense_Mutation_p.Q310E|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dki.2_Missense_Mutation_p.Q337E|SSX2IP_uc010osa.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dkj.2_Missense_Mutation_p.Q337E|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.Q333E NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 337 cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTGTAAGCTGCTCTCTCACA 0.428 13 21 --- --- --- --- PASS GTF2B 2959 broad.mit.edu 37 1 89322963 89322963 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:89322963C>A uc001dmo.3 - 6 862 c.743G>T c.(742-744)AGG>ATG p.R248M NM_001514 NP_001505 Q00403 TF2B_HUMAN general transcription factor IIB 248 2. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) GATGGGGCTCCTCCCAGGAAC 0.507 18 22 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100350190 100350190 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:100350190G>T uc001dsi.1 + 20 3012 c.2612G>T c.(2611-2613)AGT>ATT p.S871I AGL_uc001dsj.1_Missense_Mutation_p.S871I|AGL_uc001dsk.1_Missense_Mutation_p.S871I|AGL_uc001dsl.1_Missense_Mutation_p.S871I|AGL_uc001dsm.1_Missense_Mutation_p.S855I|AGL_uc001dsn.1_Missense_Mutation_p.S854I NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 871 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) ACACAATTCAGTCCTCACTTT 0.363 3 35 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103488510 103488510 + Nonsense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:103488510C>A uc001dul.2 - 8 1351 c.1033G>T c.(1033-1035)GGA>TGA p.G345* COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.G357*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G306*|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 345 Nonhelical 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) TAATCCTCTCCCGTTAGATAT 0.338 19 21 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156828411 156828411 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:156828411C>T uc010pht.1 - 1 257 c.3G>A c.(1-3)ATG>ATA p.M1I NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.M1I|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TAGGCACTGCCATTGTCCCAG 0.597 10 40 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576496 158576496 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:158576496C>A uc010pio.1 + 1 268 c.268C>A c.(268-270)CAG>AAG p.Q90K NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGGGGGGGACCAGGCTATCTC 0.542 32 138 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158736077 158736077 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:158736077G>T uc010piq.1 - 1 396 c.396C>A c.(394-396)TAC>TAA p.Y132* NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGAGGGTTGGGTAGTGGAGGG 0.517 6 17 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160151781 160151781 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:160151781A>T uc001fve.3 + 20 3408 c.2929A>T c.(2929-2931)ACT>TCT p.T977S ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T480S|ATP1A4_uc001fvh.2_Missense_Mutation_p.T113S NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 977 Extracellular (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTGTCCTACACTCCAGGCAT 0.532 38 85 --- --- --- --- PASS FCRLB 127943 broad.mit.edu 37 1 161697367 161697367 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:161697367G>A uc001gbh.2 + 8 1430 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q FCRLB_uc009wus.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 399 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CAGGCCCTCCGGGAGCTCAGG 0.637 8 40 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169586577 169586577 + Missense_Mutation SNP C A A rs7529463 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:169586577C>A uc001ggi.3 - 3 235 c.170G>T c.(169-171)CGT>CTT p.R57L SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.R57L NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 57 Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCAGTATTTACGGGAAATATT 0.408 60 65 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175335252 175335252 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:175335252G>T uc001gkp.1 - 9 2157 c.2076C>A c.(2074-2076)CTC>CTA p.L692L TNR_uc009wwu.1_Silent_p.L692L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 692 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTGTCACCATGAGGTCTCGGG 0.517 18 22 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176668393 176668393 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:176668393G>A uc001gkz.2 + 8 4068 c.2904G>A c.(2902-2904)CTG>CTA p.L968L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 968 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCTCACCCTGTGGGTCACTT 0.562 70 102 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177906551 177906551 + Silent SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:177906551C>G uc001gli.1 - 19 2391 c.2301G>C c.(2299-2301)CTG>CTC p.L767L SEC16B_uc001glk.1_Silent_p.L444L|SEC16B_uc009wwy.1_Silent_p.L322L|SEC16B_uc001glh.1_Silent_p.L426L|SEC16B_uc009wwz.1_Silent_p.L426L|SEC16B_uc001glj.1_Silent_p.L768L NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 767 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 TGGGCTGGAGCAGGCAGGTCT 0.602 5 6 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180061849 180061849 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:180061849G>T uc001gnt.2 + 34 6992 c.6609G>T c.(6607-6609)CAG>CAT p.Q2203H CEP350_uc009wxl.2_Missense_Mutation_p.Q2202H|CEP350_uc001gnv.2_Missense_Mutation_p.Q338H|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2203 centrosome|nucleus|spindle ovary(4) 4 AAGATTTTCAGACCCCATCTC 0.383 3 6 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181620509 181620509 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:181620509G>A uc001gow.2 + 7 1152 c.987G>A c.(985-987)CTG>CTA p.L329L CACNA1E_uc009wxr.2_Silent_p.L236L|CACNA1E_uc009wxs.2_Silent_p.L236L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 329 I.|Helical; Name=S6 of repeat I. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GGAATTGGCTGTACTTCATCC 0.423 20 54 --- --- --- --- PASS APOBEC4 403314 broad.mit.edu 37 1 183616857 183616857 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:183616857T>C uc001gqn.2 - 2 1332 c.1060A>G c.(1060-1062)AGC>GGC p.S354G RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron NM_203454 NP_982279 Q8WW27 ABEC4_HUMAN apolipoprotein B 354 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 GCCTCCTTGCTACTTGCAAAC 0.408 4 139 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067323 190067323 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:190067323C>T uc001gse.1 - 8 2358 c.2126G>A c.(2125-2127)CGT>CAT p.R709H FAM5C_uc010pot.1_Missense_Mutation_p.R607H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 709 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTTATTTACACGGTCTCTGAT 0.488 28 35 --- --- --- --- PASS NR5A2 2494 broad.mit.edu 37 1 200017815 200017815 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:200017815C>A uc001gvb.2 + 5 1185 c.979C>A c.(979-981)CAG>AAG p.Q327K NR5A2_uc001gvc.2_Missense_Mutation_p.Q281K|NR5A2_uc009wzh.2_Missense_Mutation_p.Q287K|NR5A2_uc010pph.1_Missense_Mutation_p.Q255K NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 327 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GGCCTATTTGCAGCAAGAGCA 0.498 23 40 --- --- --- --- PASS IPO9 55705 broad.mit.edu 37 1 201825050 201825050 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:201825050C>G uc001gwz.2 + 10 1160 c.1110C>G c.(1108-1110)ATC>ATG p.I370M NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 370 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 ACATGCAAATCACTGAGGAGC 0.343 16 24 --- --- --- --- PASS OPTC 26254 broad.mit.edu 37 1 203466142 203466142 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:203466142G>T uc001gzu.1 + 3 385 c.269G>T c.(268-270)AGT>ATT p.S90I NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 90 Ser/Thr-rich. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) ACCAGCATCAGTCCCGCCAAG 0.547 5 17 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208390374 208390374 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:208390374G>A uc001hgz.2 - 2 1652 c.894C>T c.(892-894)TTC>TTT p.F298F PLXNA2_uc001hha.3_Silent_p.F352F NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 298 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGGTGCAGCCGAAGGGCAGGG 0.627 19 32 --- --- --- --- PASS RCOR3 55758 broad.mit.edu 37 1 211447576 211447576 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:211447576A>T uc001hig.2 + 3 321 c.152A>T c.(151-153)AAG>ATG p.K51M RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.K109M|RCOR3_uc010psw.1_Missense_Mutation_p.K109M|RCOR3_uc001hif.2_Missense_Mutation_p.K109M NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 51 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GCAATTGCAAAGGAAAAGCAT 0.313 10 12 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216824386 216824386 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:216824386G>T uc001hkw.1 - 3 684 c.518C>A c.(517-519)ACA>AAA p.T173K ESRRG_uc001hky.1_Missense_Mutation_p.T150K|ESRRG_uc009xdp.1_Missense_Mutation_p.T150K|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.T150K|ESRRG_uc001hla.1_Missense_Mutation_p.T150K|ESRRG_uc001hlb.1_Missense_Mutation_p.T150K|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.T150K|ESRRG_uc001hld.1_Missense_Mutation_p.T150K|ESRRG_uc001hkx.1_Missense_Mutation_p.T178K|ESRRG_uc009xdo.1_Missense_Mutation_p.T150K|ESRRG_uc001hle.1_Missense_Mutation_p.T150K NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 173 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCTGCGCTTTGTGATTTCACA 0.428 14 50 --- --- --- --- PASS C1orf55 163859 broad.mit.edu 37 1 226173095 226173095 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:226173095G>A uc001hpu.3 - 7 1317 c.1264C>T c.(1264-1266)CGG>TGG p.R422W C1orf55_uc001hpv.2_3'UTR NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 422 lung(1) 1 Breast(184;0.197) CTTGCTGCCCGCTCCTGCAGA 0.502 30 38 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228433333 228433333 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:228433333G>C uc009xez.1 + 12 3745 c.3701G>C c.(3700-3702)GGG>GCG p.G1234A OBSCN_uc001hsn.2_Missense_Mutation_p.G1234A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1234 Ig-like 12. 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) GCAGATGCTGGGGAGTACAGC 0.522 12 42 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229771178 229771178 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:229771178A>T uc001hts.1 + 4 954 c.818A>T c.(817-819)AAC>ATC p.N273I URB2_uc009xfd.1_Missense_Mutation_p.N273I NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 273 nucleolus central_nervous_system(2)|ovary(1) 3 GCCATGAAGAACCTTCTGGCT 0.547 20 28 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232600782 232600782 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:232600782C>A uc001hvg.2 - 7 2782 c.2624G>T c.(2623-2625)GGG>GTG p.G875V SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 875 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATTGGAGATCCCGAGAAGACA 0.478 10 22 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236925901 236925901 + Nonsense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:236925901C>A uc001hyf.2 + 21 2871 c.2667C>A c.(2665-2667)TAC>TAA p.Y889* ACTN2_uc001hyg.2_Nonsense_Mutation_p.Y681*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Y889*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Y578*|ACTN2_uc001hyh.2_Nonsense_Mutation_p.Y577* NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 889 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCGCACTCTACGGGGAGAGCG 0.532 11 21 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237619948 237619948 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:237619948A>T uc001hyl.1 + 16 1645 c.1525A>T c.(1525-1527)AGC>TGC p.S509C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 509 Cytoplasmic (By similarity). 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) GCACGTCTACAGCAGTGCAGC 0.433 11 47 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370304 240370304 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:240370304A>G uc010pyd.1 + 5 2417 c.2192A>G c.(2191-2193)AAG>AGG p.K731R FMN2_uc010pye.1_Missense_Mutation_p.K735R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 731 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTAGAAGAAAAGGAAGTACGG 0.557 12 21 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242042374 242042374 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:242042374G>T uc001hzh.2 + 13 2378 c.1838G>T c.(1837-1839)GGA>GTA p.G613V EXO1_uc001hzi.2_Missense_Mutation_p.G613V|EXO1_uc001hzj.2_Missense_Mutation_p.G613V|EXO1_uc009xgq.2_Missense_Mutation_p.G612V NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 613 Interaction with MSH2. 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) AGTTGGTCTGGAGGTCTTGGA 0.463 Direct_reversal_of_damage|Editing_and_processing_nucleases 31 47 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243449593 243449593 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:243449593A>T uc001hzw.2 + 5 596 c.440A>T c.(439-441)AAA>ATA p.K147I SDCCAG8_uc010pyk.1_Missense_Mutation_p.K2I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.K2I|SDCCAG8_uc001hzx.2_Missense_Mutation_p.K2I NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 147 Potential. establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TCTGGAATGAAAAATAAAATA 0.358 21 34 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244217443 244217443 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:244217443A>G uc001iae.2 + 1 862 c.340A>G c.(340-342)AAA>GAA p.K114E ZNF238_uc001iad.3_Missense_Mutation_p.K123E|ZNF238_uc001iaf.1_Missense_Mutation_p.K114E NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 114 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CAAAGTCTGCAAAAAGAAGCT 0.458 12 13 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129356 248129356 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:248129356C>A uc010pzd.1 + 1 723 c.723C>A c.(721-723)TTC>TTA p.F241L OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGTGGTATTCCAGATGAGCT 0.463 4 27 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458694 248458694 + Nonsense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:248458694G>A uc010pzj.1 - 1 187 c.187C>T c.(187-189)CAA>TAA p.Q63* NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGGGAAAGTTGGCTCAGGAGG 0.557 41 24 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551010 248551010 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:248551010T>C uc001iei.1 + 1 101 c.101T>C c.(100-102)GTC>GCC p.V34A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTTGTGCCGTCTTCTTCATG 0.463 14 41 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248636960 248636960 + Silent SNP G T T rs146200189 TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:248636960G>T uc001iel.1 + 1 309 c.309G>T c.(307-309)GGG>GGT p.G103G NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 103 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G103G(1) skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGGCTGTGGGATCCAGATGT 0.547 7 38 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756338 248756338 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:248756338G>T uc010pzn.1 - 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACTGTAATGTGGGAGGAGC 0.453 9 21 --- --- --- --- PASS ODC1 4953 broad.mit.edu 37 2 10582277 10582277 + Silent SNP C A A rs114981547 by1000genomes TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:10582277C>A uc010exg.1 - 9 1208 c.774G>T c.(772-774)GCG>GCT p.A258A ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.A258A|ODC1_uc010yjd.1_Silent_p.A128A NM_002539 NP_002530 P11926 DCOR_HUMAN ornithine decarboxylase 1 258 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) ATTTGTCCAACGCTGGGTTGA 0.463 40 24 --- --- --- --- PASS AHSA2 130872 broad.mit.edu 37 2 61412642 61412642 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:61412642G>C uc002sbc.1 + 4 1667 c.81G>C c.(79-81)CAG>CAC p.Q27H AHSA2_uc002sbb.1_RNA NM_152392 NP_689605 Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein 189 response to stress cytoplasm ATPase activator activity|chaperone binding breast(1) 1 Epithelial(17;0.0994) TCCAGGTTCAGGCCTCATCTC 0.453 15 230 --- --- --- --- PASS OTX1 5013 broad.mit.edu 37 2 63282959 63282959 + Silent SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:63282959G>C uc002scd.2 + 5 821 c.573G>C c.(571-573)GTG>GTC p.V191V OTX1_uc010ypt.1_Silent_p.V125V NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 191 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) CCGCGTCCGTGTCGGTGCCGG 0.682 23 43 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71795186 71795186 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:71795186G>A uc002sie.2 + 25 2993 c.2617G>A c.(2617-2619)GGG>AGG p.G873R DYSF_uc010feg.2_Missense_Mutation_p.G904R|DYSF_uc010feh.2_Missense_Mutation_p.G859R|DYSF_uc002sig.3_Missense_Mutation_p.G859R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G873R|DYSF_uc010fef.2_Missense_Mutation_p.G890R|DYSF_uc010fei.2_Missense_Mutation_p.G890R|DYSF_uc010fek.2_Missense_Mutation_p.G891R|DYSF_uc010fej.2_Missense_Mutation_p.G860R|DYSF_uc010fel.2_Missense_Mutation_p.G860R|DYSF_uc010feo.2_Missense_Mutation_p.G905R|DYSF_uc010fem.2_Missense_Mutation_p.G874R|DYSF_uc010fen.2_Missense_Mutation_p.G891R|DYSF_uc002sif.2_Missense_Mutation_p.G874R NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 873 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GTTTGCTGAGGGGAAGCTGTC 0.597 21 76 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73716954 73716954 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:73716954G>C uc002sje.1 + 12 7982 c.7871G>C c.(7870-7872)AGA>ACA p.R2624T ALMS1_uc002sjf.1_Missense_Mutation_p.R2580T|ALMS1_uc002sjg.2_Missense_Mutation_p.R2010T|ALMS1_uc002sjh.1_Missense_Mutation_p.R2010T NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2622 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCATCATGCAGAGCCAAGCAT 0.448 12 95 --- --- --- --- PASS ACTG2 72 broad.mit.edu 37 2 74136211 74136211 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:74136211C>T uc002sjw.2 + 5 518 c.396C>T c.(394-396)GCC>GCT p.A132A ACTG2_uc010fey.2_Silent_p.A132A|ACTG2_uc010yrn.1_Silent_p.A89A NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 132 muscle contraction cytoskeleton|cytosol ATP binding 0 ATGTCCCTGCCATGTACGTCG 0.443 29 117 --- --- --- --- PASS ACTG2 72 broad.mit.edu 37 2 74140623 74140623 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:74140623G>T uc002sjw.2 + 6 585 c.463G>T c.(463-465)GAT>TAT p.D155Y ACTG2_uc010fey.2_Missense_Mutation_p.D155Y|ACTG2_uc010yrn.1_Missense_Mutation_p.D112Y NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 155 muscle contraction cytoskeleton|cytosol ATP binding 0 CATCGTCCTGGATTCAGGTGA 0.517 32 61 --- --- --- --- PASS HK2 3099 broad.mit.edu 37 2 75115034 75115034 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:75115034G>C uc002snd.2 + 16 4150 c.2224G>C c.(2224-2226)GAG>CAG p.E742Q NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 742 Substrate 2 binding.|Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 TTGCAGGTTCGAGAAAATGAT 0.502 9 97 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79349232 79349232 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:79349232G>T uc002snz.2 + 4 405 c.302G>T c.(301-303)GGC>GTC p.G101V REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.G101V NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 101 C-type lectin. G -> A (in Ref. 2; AAA36559). positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GTCTGGATTGGCCTCCATGAC 0.498 20 73 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79384779 79384779 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:79384779C>A uc002sod.1 - 4 634 c.379G>T c.(379-381)GTG>TTG p.V127L REG3A_uc002soe.1_Missense_Mutation_p.V127L|REG3A_uc002sof.1_Missense_Mutation_p.V127L NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 127 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TAATTCATCACATCACTGCTA 0.542 22 84 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89513182 89513182 + RNA SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:89513182A>C uc010ytr.1 - 23 c.2706T>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. AGACTGGGTCATCTGGATGTC 0.438 22 40 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90249332 90249332 + RNA SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:90249332C>A uc010fhm.2 + 28 c.3875C>A Parts of antibodies, mostly variable regions. ACACTCTCACCATCAGCAGCC 0.483 53 157 --- --- --- --- PASS EPB41L5 57669 broad.mit.edu 37 2 120847927 120847927 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:120847927A>T uc002tmg.2 + 12 1004 c.878A>T c.(877-879)AAA>ATA p.K293I EPB41L5_uc010flk.2_Missense_Mutation_p.K293I|EPB41L5_uc010fll.2_Missense_Mutation_p.K293I|EPB41L5_uc002tmh.3_Missense_Mutation_p.K293I|EPB41L5_uc010flm.2_Missense_Mutation_p.K97I NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 293 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 TTTCAGGGCAAAGAACAGGAA 0.358 241 63 --- --- --- --- PASS RAB3GAP1 22930 broad.mit.edu 37 2 135893434 135893434 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:135893434C>T uc002tuj.2 + 17 1880 c.1855C>T c.(1855-1857)CGG>TGG p.R619W RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R619W|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R444W|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 619 R->A: No effect. centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) GCCGGAAGGACGGCTCTATCA 0.423 24 24 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157072 145157072 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:145157072G>T uc002tvu.2 - 8 2162 c.1682C>A c.(1681-1683)ACT>AAT p.T561N ZEB2_uc002tvv.2_Missense_Mutation_p.T555N|ZEB2_uc010zbm.1_Missense_Mutation_p.T532N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T590N NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 561 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATCTATTAAAGTACGTAGCTT 0.393 4 68 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166514429 166514429 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:166514429C>A uc002udf.2 + 5 683 c.307C>A c.(307-309)CAG>AAG p.Q103K CSRNP3_uc002udg.2_Missense_Mutation_p.Q103K NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 103 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CAGCGTGCGCCAGTACACTCT 0.547 9 14 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105796 168105796 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:168105796A>T uc002udx.2 + 8 7912 c.7894A>T c.(7894-7896)ACA>TCA p.T2632S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2457S|XIRP2_uc010fpq.2_Missense_Mutation_p.T2410S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2457 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACTCTCCACAACATCGCCAGA 0.448 22 25 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179631324 179631324 + Missense_Mutation SNP G C C rs140664731 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:179631324G>C uc010zfg.1 - 41 9711 c.9487C>G c.(9487-9489)CGT>GGT p.R3163G TTN_uc010zfh.1_Missense_Mutation_p.R3117G|TTN_uc010zfi.1_Missense_Mutation_p.R3117G|TTN_uc010zfj.1_Missense_Mutation_p.R3117G|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3163G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3163 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) ACAACAGCACGCTGTTTCTCA 0.363 20 11 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179644751 179644751 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:179644751C>A uc010zfg.1 - 22 3929 c.3705G>T c.(3703-3705)GTG>GTT p.V1235V TTN_uc010zfh.1_Silent_p.V1189V|TTN_uc010zfi.1_Silent_p.V1189V|TTN_uc010zfj.1_Silent_p.V1189V|TTN_uc002unb.2_Silent_p.V1235V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1235 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) AAGTTCTGACCACTACAGTAT 0.269 26 26 --- --- --- --- PASS UBE2E3 10477 broad.mit.edu 37 2 181927572 181927572 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:181927572A>G uc002unq.1 + 7 800 c.581A>G c.(580-582)CAC>CGC p.H194R UBE2E3_uc002unr.1_Missense_Mutation_p.H194R|UBE2E3_uc010fri.1_Missense_Mutation_p.H194R NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 194 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 AGAGCAGAACACGACAGGATA 0.438 11 6 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183843592 183843592 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:183843592T>A uc002upc.2 - 14 1795 c.1393A>T c.(1393-1395)AAC>TAC p.N465Y NCKAP1_uc002upb.2_Missense_Mutation_p.N471Y NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 465 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GTCATAGTGTTAACAAAAGAG 0.239 3 19 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207171568 207171568 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:207171568A>T uc002vbp.2 + 5 2566 c.2316A>T c.(2314-2316)AAA>AAT p.K772N NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 772 nucleic acid binding|zinc ion binding ovary(3) 3 CTGAAGGAAAAGAACGGCACA 0.423 57 44 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207176300 207176300 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:207176300G>T uc002vbp.2 + 5 7298 c.7048G>T c.(7048-7050)GGT>TGT p.G2350C NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2350 nucleic acid binding|zinc ion binding ovary(3) 3 CAAACTGAGAGGTAATGAGGT 0.403 5 10 --- --- --- --- PASS MYL1 4632 broad.mit.edu 37 2 211158470 211158470 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:211158470G>T uc002vec.2 - 5 662 c.533C>A c.(532-534)TCC>TAC p.S178Y MYL1_uc002veb.2_Missense_Mutation_p.S134Y NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 178 EF-hand 3. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GCAGCCATTGGAGTCTTCTTG 0.428 7 101 --- --- --- --- PASS PLCD4 84812 broad.mit.edu 37 2 219501078 219501078 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:219501078T>A uc002vij.1 + 15 2340 c.2145T>A c.(2143-2145)ATT>ATA p.I715I NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 715 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ATGACTTTATTGGTCAGTACA 0.542 31 127 --- --- --- --- PASS STK11IP 114790 broad.mit.edu 37 2 220472790 220472790 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:220472790C>T uc002vml.2 + 14 1317 c.1274C>T c.(1273-1275)CCG>CTG p.P425L STK11IP_uc010zll.1_Missense_Mutation_p.P382L|STK11IP_uc002vmm.1_Missense_Mutation_p.P414L NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 425 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCAGCACCCGGAGCTGGAG 0.637 10 8 --- --- --- --- PASS CXCR7 57007 broad.mit.edu 37 2 237489723 237489723 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:237489723C>G uc010fyq.2 + 3 845 c.615C>G c.(613-615)ATC>ATG p.I205M CXCR7_uc002vwd.2_Missense_Mutation_p.I205M NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 205 Extracellular (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) AGCACAGCATCAAGGAGTGGC 0.567 4 70 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238263551 238263551 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:238263551G>A uc002vwl.2 - 24 6903 c.6618C>T c.(6616-6618)CCC>CCT p.P2206P COL6A3_uc002vwo.2_Silent_p.P2000P|COL6A3_uc010znj.1_Silent_p.P1599P|COL6A3_uc002vwp.1_Silent_p.P27P NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2206 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCTTAGCTCCGGGGGGTCCCC 0.577 7 3 --- --- --- --- PASS GPC1 2817 broad.mit.edu 37 2 241401910 241401910 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr2:241401910C>T uc002vyw.3 + 3 849 c.628C>T c.(628-630)CGC>TGC p.R210C NM_002081 NP_002072 P35052 GPC1_HUMAN glypican 1 precursor 210 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) GAGAGAGCTGCGCCTGCGGGC 0.711 12 6 --- --- --- --- PASS TTLL3 26140 broad.mit.edu 37 3 9874874 9874874 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:9874874G>A uc003btg.2 + 11 1857 c.1641G>A c.(1639-1641)CGG>CGA p.R547R ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.3_Silent_p.R335R|TTLL3_uc011atj.1_Silent_p.R483R|TTLL3_uc003btj.3_Intron|TTLL3_uc003bti.3_Silent_p.R335R NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 547 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TGTGTCATCGGCGGATGGGGG 0.622 11 13 --- --- --- --- PASS TMEM40 55287 broad.mit.edu 37 3 12791327 12791327 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:12791327T>A uc003bxg.1 - 2 132 c.5A>T c.(4-6)GAG>GTG p.E2V TMEM40_uc003bxh.1_Missense_Mutation_p.E2V|TMEM40_uc003bxi.1_Missense_Mutation_p.E2V|TMEM40_uc011auv.1_Missense_Mutation_p.E18V NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 2 integral to membrane 0 TGCTGAAGTCTCCATGGCTTT 0.348 11 19 --- --- --- --- PASS CCR8 1237 broad.mit.edu 37 3 39374082 39374082 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:39374082C>A uc010hhr.2 + 2 398 c.260C>A c.(259-261)TCC>TAC p.S87Y CCR8_uc003cjm.2_Intron NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 87 Helical; Name=2; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TTTGTCTTCTCCTTCCCCTTT 0.498 75 70 --- --- --- --- PASS MYL3 4634 broad.mit.edu 37 3 46899752 46899752 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:46899752C>A uc003cql.1 - 6 663 c.570G>T c.(568-570)AAG>AAT p.K190N NM_000258 NP_000249 P08590 MYL3_HUMAN slow skeletal ventricular myosin alkali light 190 EF-hand 3. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) ACATGATGTGCTTCACAAATG 0.602 15 7 --- --- --- --- PASS CCDC51 79714 broad.mit.edu 37 3 48476522 48476522 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:48476522G>A uc003csz.2 - 2 138 c.17C>T c.(16-18)CCT>CTT p.P6L CCDC51_uc003cta.2_Intron|CCDC51_uc003ctb.2_Intron|CCDC51_uc003ctc.2_Missense_Mutation_p.P6L|CCDC51_uc003ctd.2_Intron NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 6 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCAAACCCAGGGCTGCGCCC 0.597 5 9 --- --- --- --- PASS GBE1 2632 broad.mit.edu 37 3 81640303 81640303 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:81640303G>A uc003dqg.2 - 10 1404 c.1121C>T c.(1120-1122)TCA>TTA p.S374L GBE1_uc011bgm.1_Missense_Mutation_p.S333L NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 374 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.S374*(1) ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) GTAATCACCTGAGAAACCTTG 0.358 Glycogen_Storage_Disease_type_IV 3 6 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89259464 89259464 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:89259464C>T uc003dqy.2 + 3 833 c.608C>T c.(607-609)CCA>CTA p.P203L EPHA3_uc003dqx.1_Missense_Mutation_p.P203L|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 203 Extracellular (Potential).|Cys-rich. 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) AAAAAGTGCCCATTTACAGTG 0.453 TSP Lung(6;0.00050) 47 82 --- --- --- --- PASS CCDC54 84692 broad.mit.edu 37 3 107097078 107097078 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:107097078C>A uc003dwi.1 + 1 891 c.644C>A c.(643-645)CCC>CAC p.P215H NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 215 0 ACAATTTCTCCCCAAATGAAA 0.393 22 42 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111298029 111298029 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:111298029T>A uc003dxw.2 + 5 917 c.747T>A c.(745-747)ATT>ATA p.I249I CD96_uc003dxv.2_Silent_p.I233I|CD96_uc003dxx.2_Silent_p.I233I|CD96_uc010hpy.1_Silent_p.I233I NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 249 Extracellular (Potential). cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 CTTGCCACATTAGAGTCGGTC 0.473 Opitz_Trigonocephaly_syndrome 35 57 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118621385 118621385 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:118621385C>A uc003ebw.2 - 7 1525 c.1278G>T c.(1276-1278)CGG>CGT p.R426R IGSF11_uc011biv.1_Silent_p.R398R|IGSF11_uc003ebx.2_Silent_p.R402R|IGSF11_uc003eby.2_Silent_p.R425R|IGSF11_uc003ebz.2_Silent_p.R401R|IGSF11_uc010hqs.2_Silent_p.R425R NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 426 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 AGGACCCGGCCCGACTCTGGG 0.542 31 73 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121414947 121414947 + Nonsense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:121414947C>A uc003eei.3 - 13 4534 c.4408G>T c.(4408-4410)GAG>TAG p.E1470* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1475*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1436*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E1356*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1434* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1470 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTCCAATCTCTTCTGGTTTT 0.403 89 165 --- --- --- --- PASS CCDC37 348807 broad.mit.edu 37 3 126138990 126138990 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:126138990C>A uc003eiu.1 + 11 1099 c.1000C>A c.(1000-1002)CGG>AGG p.R334R CCDC37_uc010hsg.1_Silent_p.R335R NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 334 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GCAGACGATGCGGCTGGGGCG 0.647 9 17 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130464034 130464034 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:130464034G>C uc003enj.2 - 2 610 c.29C>G c.(28-30)CCC>CGC p.P10R NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 10 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GATCTGGGAGGGAGCAATGCC 0.383 21 26 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132182590 132182590 + Silent SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:132182590A>G uc003eor.2 + 17 1886 c.1821A>G c.(1819-1821)GAA>GAG p.E607E DNAJC13_uc010htq.1_Silent_p.E607E NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 607 heat shock protein binding ovary(1)|breast(1) 2 CCCTAAGTGAAGGTGCCTTAC 0.408 16 48 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147109008 147109008 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:147109008G>A uc003ewd.1 - 4 987 c.714C>T c.(712-714)TTC>TTT p.F238F ZIC4_uc003ewc.1_Silent_p.F168F|ZIC4_uc011bno.1_Silent_p.F288F NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 238 C2H2-type 4. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CGCAGCCCTCGAACTCGCATC 0.622 8 12 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157034940 157034940 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:157034940C>A uc003fbj.1 - 10 2103 c.1786G>T c.(1786-1788)GGT>TGT p.G596C VEPH1_uc003fbk.1_Missense_Mutation_p.G596C|VEPH1_uc010hvu.1_Missense_Mutation_p.G596C NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 596 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CAGTAATGACCCTTCAGGGAG 0.398 18 38 --- --- --- --- PASS IFT80 57560 broad.mit.edu 37 3 160102367 160102367 + Silent SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:160102367A>G uc011boy.1 - 2 455 c.22T>C c.(22-24)TTA>CTA p.L8L IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 8 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGTTCTTTTAAAAGAGATATC 0.259 7 21 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160226054 160226054 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:160226054C>A uc003fdn.2 - 15 1519 c.1213G>T c.(1213-1215)GCT>TCT p.A405S NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 405 ARM 9. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATAAGGTAAGCCACCTGAAGA 0.333 6 13 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906718 164906718 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:164906718C>G uc003fej.3 - 2 2345 c.1901G>C c.(1900-1902)GGG>GCG p.G634A SLITRK3_uc003fek.2_Missense_Mutation_p.G634A NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 634 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GGTTGGTGCCCCAATAAGGTG 0.527 HNSCC(40;0.11) 7 13 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908356 164908356 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:164908356G>C uc003fej.3 - 2 707 c.263C>G c.(262-264)TCT>TGT p.S88C SLITRK3_uc003fek.2_Missense_Mutation_p.S88C NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 88 LRR 1.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TTTCCTCATAGAATTCCTCTG 0.353 HNSCC(40;0.11) 33 64 --- --- --- --- PASS SERPINI2 5276 broad.mit.edu 37 3 167189477 167189477 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:167189477G>T uc003fer.1 - 1 204 c.146C>A c.(145-147)CCC>CAC p.P49H SERPINI2_uc003fes.1_Missense_Mutation_p.P59H|SERPINI2_uc003fet.1_Missense_Mutation_p.P49H NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 49 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TATTCCAAGGGGTGAAAATAT 0.393 4 124 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172835144 172835144 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr3:172835144C>T uc003fin.3 - 2 536 c.378G>A c.(376-378)AAG>AAA p.K126K NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 126 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGTAGACCAACTTCATTTCCA 0.423 45 71 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3318114 3318114 + Nonsense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:3318114A>T uc003ggw.2 + 2 1121 c.217A>T c.(217-219)AAA>TAA p.K73* RGS12_uc003ggu.2_Nonsense_Mutation_p.K73*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.K73*|RGS12_uc003ggx.1_Nonsense_Mutation_p.K73* NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 73 PDZ. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AATCAACGTGAAAAAAGCATC 0.517 9 26 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20598066 20598066 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:20598066A>C uc003gpr.1 + 32 3553 c.3349A>C c.(3349-3351)ATG>CTG p.M1117L SLIT2_uc003gps.1_Missense_Mutation_p.M1109L NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1117 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTCTCCACCCATGGTCCTCCC 0.398 4 45 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22748973 22748973 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:22748973C>A uc003gqp.3 + 3 432 c.341C>A c.(340-342)CCC>CAC p.P114H GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P115H NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 114 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GGGGTTACTCCCATTGTGACC 0.378 23 74 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749246 22749246 + Nonsense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:22749246G>A uc003gqp.3 + 3 705 c.614G>A c.(613-615)TGG>TAG p.W205* GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Nonsense_Mutation_p.W206* NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 205 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GCCAGATCCTGGCACAGCTAT 0.448 28 59 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749605 22749605 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:22749605G>C uc003gqp.3 + 3 1064 c.973G>C c.(973-975)GGT>CGT p.G325R GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G326R NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 325 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 AGGAGAACTAGGTATTCTCCA 0.383 3 9 --- --- --- --- PASS RBM47 54502 broad.mit.edu 37 4 40439916 40439916 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:40439916C>A uc003gvc.2 - 4 1705 c.995G>T c.(994-996)AGG>ATG p.R332M RBM47_uc003gvd.2_Missense_Mutation_p.R332M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R294M|RBM47_uc003gvg.1_Missense_Mutation_p.R332M NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 332 nucleus nucleotide binding|RNA binding breast(3) 3 GCCGCCGCCCCTGGCTGCCTT 0.652 10 24 --- --- --- --- PASS DCAF4L1 285429 broad.mit.edu 37 4 41984529 41984529 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:41984529T>A uc003gwk.2 + 1 817 c.720T>A c.(718-720)TTT>TTA p.F240L NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 240 skin(1) 1 CTTTGCTGTTTAATGGCTGTC 0.552 32 78 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46305618 46305618 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:46305618C>A uc003gxc.3 - 7 1388 c.715G>T c.(715-717)GTA>TTA p.V239L GABRA2_uc010igc.2_Missense_Mutation_p.V239L|GABRA2_uc011bzc.1_Missense_Mutation_p.V184L|GABRA2_uc003gxe.2_Missense_Mutation_p.V239L NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 239 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTGTCATTACAGTATATTCA 0.348 9 23 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55152076 55152076 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:55152076C>G uc003han.3 + 18 2839 c.2508C>G c.(2506-2508)GAC>GAG p.D836E PDGFRA_uc003haa.2_Missense_Mutation_p.D596E NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 836 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGATCTGTGACTTTGGCCTGG 0.502 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 25 93 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55970937 55970937 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:55970937G>T uc003has.2 - 13 2162 c.1860C>A c.(1858-1860)AGC>AGA p.S620R KDR_uc003hat.1_Missense_Mutation_p.S620R|KDR_uc011bzx.1_Missense_Mutation_p.S620R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 620 Ig-like C2-type 6.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCATTTGTGCTATTAGAGA 0.453 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 7 34 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55987285 55987285 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:55987285G>T uc003has.2 - 2 442 c.140C>A c.(139-141)ACA>AAA p.T47K KDR_uc003hat.1_Missense_Mutation_p.T47K|KDR_uc011bzx.1_Missense_Mutation_p.T47K NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 47 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGAAGAGTTGTATTAGCCTT 0.328 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 14 31 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70361033 70361033 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:70361033G>T uc003hek.3 - 1 594 c.547C>A c.(547-549)CAT>AAT p.H183N UGT2B4_uc011cap.1_Missense_Mutation_p.H47N|UGT2B4_uc003hel.3_Missense_Mutation_p.H183N NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 183 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 CCTCCACTATGCTTTTCAATT 0.443 20 15 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77661306 77661306 + Silent SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:77661306A>G uc011cbx.1 + 5 2933 c.1980A>G c.(1978-1980)TCA>TCG p.S660S SHROOM3_uc011cbz.1_Silent_p.S484S|SHROOM3_uc003hkf.1_Silent_p.S535S|SHROOM3_uc003hkg.2_Silent_p.S438S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 660 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) AGACCAAGTCAGCCTTCTCAT 0.592 28 37 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 109784501 109784501 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:109784501C>T uc003hze.1 - 20 1657 c.1126G>A c.(1126-1128)GGG>AGG p.G376R COL25A1_uc003hzg.2_Missense_Mutation_p.G376R|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G157R NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 376 Extracellular (Potential).|Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCAGGTTCCCCTCGCTCACCT 0.493 10 9 --- --- --- --- PASS SEC24B 10427 broad.mit.edu 37 4 110441621 110441621 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:110441621G>T uc003hzk.2 + 12 2281 c.2226G>T c.(2224-2226)TTG>TTT p.L742F SEC24B_uc003hzl.2_Missense_Mutation_p.L707F|SEC24B_uc011cfp.1_Missense_Mutation_p.L772F|SEC24B_uc011cfq.1_Missense_Mutation_p.L741F|SEC24B_uc011cfr.1_Missense_Mutation_p.L706F NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 742 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTCAAATGTTGATTGTGTCTG 0.358 29 17 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114275181 114275181 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:114275181C>A uc003ibe.3 + 38 5507 c.5407C>A c.(5407-5409)CAC>AAC p.H1803N ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.H1818N NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1770 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAAGACCACCCACAGGCCACA 0.522 29 24 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134075502 134075502 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:134075502G>C uc003iha.2 + 2 3498 c.2672G>C c.(2671-2673)AGA>ACA p.R891T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 891 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTAGTTGACAGACCTCGCCGA 0.368 8 9 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187535395 187535395 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr4:187535395T>C uc003izf.2 - 12 9367 c.9179A>G c.(9178-9180)TAC>TGC p.Y3060C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3060 Extracellular (Potential).|Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAATAACGTGTAAGTAATTTC 0.383 HNSCC(5;0.00058) 47 42 --- --- --- --- PASS SLC6A19 340024 broad.mit.edu 37 5 1208963 1208963 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:1208963G>T uc003jbw.3 + 2 361 c.305G>T c.(304-306)GGT>GTT p.G102V NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 102 Cytoplasmic (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) GGCAGCCTGGGTGTGTGGAGC 0.682 30 29 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5303769 5303769 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:5303769C>T uc003jdl.2 + 20 3214 c.3076C>T c.(3076-3078)CCC>TCC p.P1026S ADAMTS16_uc003jdk.1_Missense_Mutation_p.P1026S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1026 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCAGCTGCTGCCCGACGCTGT 0.637 13 32 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5489359 5489359 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:5489359G>T uc003jdm.3 + 19 6939 c.6717G>T c.(6715-6717)CGG>CGT p.R2239R NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2239 ovary(1)|central_nervous_system(1) 2 AAGCTTGGCGGAGAGAGGCCT 0.532 10 19 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19520841 19520841 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:19520841C>A uc003jgc.2 - 9 1814 c.1437G>T c.(1435-1437)CTG>CTT p.L479L CDH18_uc003jgd.2_Silent_p.L479L|CDH18_uc011cnm.1_Silent_p.L479L NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 479 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CATTGACATCCAGAACTCTAA 0.403 39 109 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21752000 21752000 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:21752000C>T uc010iuc.2 - 12 2689 c.2231G>A c.(2230-2232)AGT>AAT p.S744N CDH12_uc011cno.1_Missense_Mutation_p.S704N|CDH12_uc003jgk.2_Missense_Mutation_p.S744N|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 744 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CACGGACCCACTCCCTTCGTA 0.507 HNSCC(59;0.17) 42 51 --- --- --- --- PASS NPR3 4883 broad.mit.edu 37 5 32780908 32780908 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:32780908G>T uc003jhv.2 + 5 1494 c.1276G>T c.(1276-1278)GCG>TCG p.A426S NPR3_uc010iuo.2_Missense_Mutation_p.A210S|NPR3_uc011cnz.1_Missense_Mutation_p.A210S|NPR3_uc003jhu.2_Missense_Mutation_p.A426S NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 426 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) TGATGTGGAGGCGGGCACCCA 0.567 65 87 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576326 33576326 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:33576326G>T uc003jia.1 - 19 3968 c.3805C>A c.(3805-3807)CTG>ATG p.L1269M ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1184M NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1269 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGAAGTTTCAGGTGGTTACGG 0.488 HNSCC(64;0.19) 54 198 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576327 33576327 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:33576327G>T uc003jia.1 - 19 3967 c.3804C>A c.(3802-3804)CAC>CAA p.H1268Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1183Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1268 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GAAGTTTCAGGTGGTTACGGT 0.488 HNSCC(64;0.19) 56 195 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34814735 34814735 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:34814735G>T uc003jir.2 + 12 1096 c.900G>T c.(898-900)TCG>TCT p.S300S RAI14_uc010iur.2_Silent_p.S271S|RAI14_uc011coj.1_Silent_p.S300S|RAI14_uc010ius.1_Silent_p.S229S|RAI14_uc003jis.2_Silent_p.S303S|RAI14_uc003jit.2_Silent_p.S300S|RAI14_uc011cok.1_Silent_p.S292S NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 300 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CTCCACTATCGGGAAAGGAAT 0.333 27 69 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42718921 42718921 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:42718921G>A uc003jmt.2 + 10 1355 c.1312G>A c.(1312-1314)GAT>AAT p.D438N GHR_uc011cpq.1_Missense_Mutation_p.D251N NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 438 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACCTTATCATGATGCTTGCCC 0.473 11 30 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45267203 45267203 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:45267203G>T uc003jok.2 - 7 1796 c.1771C>A c.(1771-1773)CTA>ATA p.L591I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 591 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATTCGATCTAGTCGGTCAATG 0.383 24 52 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50125732 50125732 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:50125732G>T uc003jon.3 + 23 2352 c.2170G>T c.(2170-2172)GGT>TGT p.G724C PARP8_uc011cpz.1_Missense_Mutation_p.G616C|PARP8_uc003joo.2_Missense_Mutation_p.G724C|PARP8_uc003jop.2_Missense_Mutation_p.G682C NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 724 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TTAGCTCCATGGTGCAATGTA 0.363 32 25 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66461843 66461843 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:66461843G>A uc003jut.1 + 28 6337 c.6269G>A c.(6268-6270)AGG>AAG p.R2090K MAST4_uc003juw.2_Missense_Mutation_p.R2018K|MAST4_uc003jux.2_Intron NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2282 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CACACTGACAGGGCTCCTCTA 0.647 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 7 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66461844 66461844 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:66461844G>T uc003jut.1 + 28 6338 c.6270G>T c.(6268-6270)AGG>AGT p.R2090S MAST4_uc003juw.2_Missense_Mutation_p.R2018S|MAST4_uc003jux.2_Intron NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2282 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACACTGACAGGGCTCCTCTAG 0.642 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 7 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98235274 98235274 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:98235274C>G uc003knf.2 - 7 1143 c.995G>C c.(994-996)TGG>TCG p.W332S NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 332 Chromo 1. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TTCTGTCTCCCAAGTGTTGTG 0.368 57 65 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558688 140558688 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:140558688C>T uc011dai.1 + 1 1259 c.1073C>T c.(1072-1074)CCT>CTT p.P358L PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 358 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCAATACCTGAGAATGCG 0.458 49 827 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140564015 140564015 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:140564015C>A uc003liv.2 + 1 3036 c.1881C>A c.(1879-1881)GCC>GCA p.A627A PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 627 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGCACCGCCAGGCTGCTGA 0.697 41 58 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572824 140572824 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:140572824G>T uc003lix.2 + 1 873 c.699G>T c.(697-699)TTG>TTT p.L233F NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 233 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGTTGTCTTGGACGTCAATG 0.552 33 29 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140712227 140712227 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:140712227C>T uc003lji.1 + 1 1976 c.1976C>T c.(1975-1977)ACG>ATG p.T659M PCDHGA1_uc011dan.1_Missense_Mutation_p.T659M NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 659 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACTGTCACGCTCACCGTG 0.687 37 15 --- --- --- --- PASS NIPAL4 348938 broad.mit.edu 37 5 156890327 156890327 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:156890327G>C uc003lwx.3 + 2 565 c.449G>C c.(448-450)GGA>GCA p.G150A ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.G150A|NIPAL4_uc010jin.1_Missense_Mutation_p.E85Q NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 150 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTGGCCACGGGAGCCACTCGA 0.612 8 5 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168175347 168175347 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:168175347G>T uc003mab.2 - 20 2650 c.2230C>A c.(2230-2232)CGC>AGC p.R744S SLIT3_uc010jjg.2_Missense_Mutation_p.R744S NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 744 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGAGGGCGCGGAGCCCCTTG 0.632 24 21 --- --- --- --- PASS NOP16 51491 broad.mit.edu 37 5 175815445 175815445 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:175815445C>T uc011dfl.1 - 1 96 c.96G>A c.(94-96)CCG>CCA p.P32P NOP16_uc003med.2_Silent_p.P32P|NOP16_uc003mee.2_Silent_p.P32P|NOP16_uc011dfm.1_Silent_p.P32P|HIGD2A_uc003meg.2_5'Flank NM_016391 NP_057475 Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein homolog 32 PR -> RG (in Ref. 2; AAD34112 and 3; AAF29075). nucleolus ovary(1)|central_nervous_system(1) 2 ATTCGATCCGCGGCGCTGCCT 0.647 46 26 --- --- --- --- PASS DOK3 79930 broad.mit.edu 37 5 176936823 176936823 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr5:176936823C>A uc003mhk.2 - 1 36 c.31G>T c.(31-33)GCG>TCG p.A11S DOK3_uc003mhh.3_5'Flank|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Intron NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 11 cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TGGGCACGCGCGTCTGATCGC 0.711 6 7 --- --- --- --- PASS NRSN1 140767 broad.mit.edu 37 6 24146060 24146060 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:24146060C>T uc010jpq.1 + 4 711 c.474C>T c.(472-474)ATC>ATT p.I158I NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 158 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 AAGAACGAATCGCAGACATCA 0.498 12 36 --- --- --- --- PASS OR2B6 26212 broad.mit.edu 37 6 27925264 27925264 + Silent SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:27925264A>T uc011dkx.1 + 1 246 c.246A>T c.(244-246)CTA>CTT p.L82L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CACAAATGCTAGTAAATTTAT 0.433 19 66 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29275313 29275313 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:29275313C>T uc011dln.1 + 1 847 c.847C>T c.(847-849)CTC>TTC p.L283F NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACCTCCAACACTCAATCCAGT 0.418 4 95 --- --- --- --- PASS DHX16 8449 broad.mit.edu 37 6 30633402 30633402 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:30633402C>G uc003nqz.2 - 5 987 c.775G>C c.(775-777)GAC>CAC p.D259H DHX16_uc011dmo.1_Missense_Mutation_p.D199H NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 259 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 AGCTCCACGTCCCCAAAAAGG 0.627 29 36 --- --- --- --- PASS VARS2 57176 broad.mit.edu 37 6 30892295 30892295 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:30892295C>A uc003nsc.1 + 25 3263 c.2631C>A c.(2629-2631)GCC>GCA p.A877A VARS2_uc011dmx.1_Silent_p.A877A|VARS2_uc011dmy.1_Silent_p.A737A|VARS2_uc011dmz.1_Silent_p.A907A|VARS2_uc011dna.1_Silent_p.A875A|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.A315A|VARS2_uc010jsg.1_Silent_p.A249A|VARS2_uc010jsh.1_Silent_p.A21A NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 877 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GCCCCCCTGCCCCCAGCATCT 0.682 4 23 --- --- --- --- PASS PNPLA1 285848 broad.mit.edu 37 6 36260856 36260856 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:36260856T>A uc010jwf.2 + 3 457 c.457T>A c.(457-459)TTC>ATC p.F153I PNPLA1_uc003olw.1_Missense_Mutation_p.F58I|PNPLA1_uc010jwe.1_Missense_Mutation_p.F58I NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 153 Patatin. lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 CTGCAGCTGCTTCGTCCCGGT 0.662 24 32 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38840381 38840381 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:38840381G>T uc003ooe.1 + 48 7009 c.6409G>T c.(6409-6411)GTT>TTT p.V2137F NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAAGACAACCGTTATCACGAT 0.428 22 60 --- --- --- --- PASS GUCA1A 2978 broad.mit.edu 37 6 42141454 42141454 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:42141454A>C uc003orx.2 + 3 748 c.103A>C c.(103-105)ACC>CCC p.T35P GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.T35P NM_000409 NP_000400 P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 35 EF-hand 1. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGCCAACTCACCCTCTATGA 0.552 33 35 --- --- --- --- PASS GUCA1A 2978 broad.mit.edu 37 6 42141463 42141463 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:42141463G>T uc003orx.2 + 3 757 c.112G>T c.(112-114)GAG>TAG p.E38* GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Nonsense_Mutation_p.E38* NM_000409 NP_000400 P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 38 EF-hand 1. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CACCCTCTATGAGTTCCGCCA 0.557 36 43 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44271932 44271932 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:44271932C>A uc010jza.1 - 14 1996 c.1993G>T c.(1993-1995)GAT>TAT p.D665Y SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 665 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GTGGTCACATCCAAGCGCAGC 0.592 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 21 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46658453 46658453 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:46658453A>G uc003oyj.2 + 1 2588 c.2588A>G c.(2587-2589)AAG>AGG p.K863R TDRD6_uc010jze.2_Missense_Mutation_p.K857R NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 863 Tudor 4. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTATCTGTGAAGAATATTTAT 0.373 27 51 --- --- --- --- PASS CRISP2 7180 broad.mit.edu 37 6 49660607 49660607 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:49660607C>A uc003ozq.2 - 10 867 c.611G>T c.(610-612)AGT>ATT p.S204I CRISP2_uc003ozl.2_Missense_Mutation_p.S204I|CRISP2_uc003ozn.2_Missense_Mutation_p.S204I|CRISP2_uc003ozr.2_Missense_Mutation_p.S204I|CRISP2_uc003ozo.2_Missense_Mutation_p.S204I|CRISP2_uc003ozm.2_Missense_Mutation_p.S239I|CRISP2_uc003ozp.2_Missense_Mutation_p.S204I NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 204 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ATACTGGCAACTATTGGCTGT 0.413 19 28 --- --- --- --- PASS KLHL31 401265 broad.mit.edu 37 6 53517037 53517037 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:53517037A>T uc003pcb.3 - 3 1405 c.1264T>A c.(1264-1266)TAC>AAC p.Y422N uc003pcc.1_Silent_p.V143V NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 422 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CCCGCGGCGTACACGAGCCCG 0.632 29 40 --- --- --- --- PASS TINAG 27283 broad.mit.edu 37 6 54214629 54214629 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:54214629C>G uc003pcj.2 + 7 1161 c.1015C>G c.(1015-1017)CCC>GCC p.P339A TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 339 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAAGCCATGTCCCAACAACGT 0.443 32 26 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69949024 69949024 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:69949024G>C uc003pev.3 + 20 3168 c.2720G>C c.(2719-2721)CGC>CCC p.R907P BAI3_uc010kak.2_Missense_Mutation_p.R907P|BAI3_uc011dxx.1_Missense_Mutation_p.R113P|BAI3_uc003pex.1_Missense_Mutation_p.R37P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 907 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGGTACATACGCTCTGAGAGA 0.368 55 60 --- --- --- --- PASS SEC63 11231 broad.mit.edu 37 6 108227913 108227913 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:108227913G>C uc003psc.3 - 9 1071 c.802C>G c.(802-804)CCA>GCA p.P268A SEC63_uc003psb.3_Missense_Mutation_p.P128A NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 268 SEC63 1.|Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTATCCGTTGGTCTGCTTGTG 0.343 39 31 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111694287 111694287 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:111694287T>A uc003puy.3 - 13 5594 c.5271A>T c.(5269-5271)TCA>TCT p.S1757S REV3L_uc003pux.3_Silent_p.S1679S|REV3L_uc003puz.3_Silent_p.S1679S NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1757 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AATCCATTATTGAGTTAGACC 0.393 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 6 107 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128400010 128400010 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:128400010T>A uc003qbk.2 - 11 2198 c.1831A>T c.(1831-1833)ACC>TCC p.T611S PTPRK_uc003qbj.2_Missense_Mutation_p.T611S|PTPRK_uc010kfc.2_Missense_Mutation_p.T611S|PTPRK_uc011ebu.1_Missense_Mutation_p.T611S|PTPRK_uc003qbl.1_Missense_Mutation_p.T481S|PTPRK_uc011ebv.1_Missense_Mutation_p.T611S NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 611 Extracellular (Potential).|Fibronectin type-III 4. 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) GTTATTGTGGTGGCAGTTTCA 0.328 7 40 --- --- --- --- PASS ARHGAP18 93663 broad.mit.edu 37 6 129932709 129932709 + Nonsense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:129932709A>C uc003qbr.2 - 8 1180 c.1091T>G c.(1090-1092)TTA>TGA p.L364* ARHGAP18_uc011ebw.1_Nonsense_Mutation_p.L364* NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 364 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AGGGATCCGTAAGAGGCCTTC 0.358 4 18 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 132014758 132014758 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:132014758C>T uc003qcu.3 + 16 1753 c.1406C>T c.(1405-1407)GCT>GTT p.A469V ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A469V NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 469 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAGTGGCTGGCTGTTAGGTTC 0.398 33 32 --- --- --- --- PASS TXLNB 167838 broad.mit.edu 37 6 139610030 139610030 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:139610030C>A uc011eds.1 - 2 172 c.7G>T c.(7-9)GCT>TCT p.A3S NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 3 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GAGTGATTAGCCTCCATCTTG 0.453 17 10 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146248399 146248399 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:146248399C>T uc003qlf.2 - 15 3526 c.3127G>A c.(3127-3129)GCA>ACA p.A1043T SHPRH_uc003qld.2_Missense_Mutation_p.A1052T|SHPRH_uc003qle.2_Missense_Mutation_p.A1052T|SHPRH_uc003qlg.1_Missense_Mutation_p.A599T|SHPRH_uc003qlh.2_5'UTR|SHPRH_uc003qli.1_5'UTR NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1043 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATTCTGCTGCCAAGGCATAC 0.353 17 10 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152720802 152720802 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:152720802A>G uc010kiw.2 - 48 7788 c.7186T>C c.(7186-7188)TGC>CGC p.C2396R SYNE1_uc003qot.3_Missense_Mutation_p.C2403R|SYNE1_uc003qou.3_Missense_Mutation_p.C2396R|SYNE1_uc010kjb.1_Missense_Mutation_p.C2379R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2396 Spectrin 3.|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) GTTTTGGAGCACAACTGGCTC 0.502 HNSCC(10;0.0054) 11 128 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152720890 152720890 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:152720890C>A uc010kiw.2 - 48 7700 c.7098G>T c.(7096-7098)TTG>TTT p.L2366F SYNE1_uc003qot.3_Missense_Mutation_p.L2373F|SYNE1_uc003qou.3_Missense_Mutation_p.L2366F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2349F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2366 Spectrin 3.|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) ACTTGCGGCACAAGCTATTGA 0.423 HNSCC(10;0.0054) 52 47 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160978499 160978499 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr6:160978499C>T uc003qtl.2 - 30 4856 c.4736G>A c.(4735-4737)TGC>TAC p.C1579Y NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4087 Kringle 36. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTTTCTGAGCATTGTGTCAG 0.493 7 53 --- --- --- --- PASS CYP2W1 54905 broad.mit.edu 37 7 1026301 1026301 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:1026301G>A uc003sjq.1 + 5 700 c.687G>A c.(685-687)CTG>CTA p.L229L CYP2W1_uc003sjr.1_Silent_p.L229L NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 229 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) TGCTCCAGCTGCACCGGCCCG 0.701 21 9 --- --- --- --- PASS HOXA5 3202 broad.mit.edu 37 7 27182915 27182915 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:27182915G>A uc003syn.1 - 1 373 c.312C>T c.(310-312)TCC>TCT p.S104S NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 104 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGCCACGGCGGAGCAGGGCA 0.736 6 7 --- --- --- --- PASS ZNF117 51351 broad.mit.edu 37 7 64438773 64438773 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:64438773T>A uc003ttr.2 - 4 2461 c.1176A>T c.(1174-1176)AGA>AGT p.R392S NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 392 C2H2-type 11; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGCCAGATTCTCTACATTTGT 0.393 5 134 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83034833 83034833 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:83034833C>A uc003uhy.1 - 9 1397 c.931G>T c.(931-933)GAC>TAC p.D311Y NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 311 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) AAAAAAACGTCCTCTGAAAAA 0.313 11 22 --- --- --- --- PASS ZNF498 221785 broad.mit.edu 37 7 99227148 99227148 + Missense_Mutation SNP T G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:99227148T>G uc003url.1 + 8 1467 c.1140T>G c.(1138-1140)TGT>TGG p.C380W ZNF498_uc003urm.1_Missense_Mutation_p.C216W|ZNF498_uc010lge.1_Missense_Mutation_p.C216W|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.C308W|ZNF498_uc003uro.1_Missense_Mutation_p.C164W NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 380 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GTGTGGAGTGTGGGAAGGGCT 0.552 28 27 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103417016 103417016 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:103417016A>T uc003vca.2 - 4 692 c.532T>A c.(532-534)TGT>AGT p.C178S RELN_uc010liz.2_Missense_Mutation_p.C178S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 178 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTTGTTCACACAACTGCTGG 0.393 43 49 --- --- --- --- PASS CDHR3 222256 broad.mit.edu 37 7 105621509 105621509 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:105621509C>A uc003vdl.3 + 3 453 c.345C>A c.(343-345)GAC>GAA p.D115E CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.D102E|CDHR3_uc011klt.1_Missense_Mutation_p.D27E NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 115 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GTGTCACAGACCTGCAAGTCC 0.463 10 7 --- --- --- --- PASS NAMPT 10135 broad.mit.edu 37 7 105893566 105893566 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:105893566G>C uc003vdq.2 - 10 1570 c.1262C>G c.(1261-1263)CCC>CGC p.P421R NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 421 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 CCTTTTGTTGGGATCAGCAAC 0.403 14 65 --- --- --- --- PASS CBLL1 79872 broad.mit.edu 37 7 107398612 107398612 + Missense_Mutation SNP T G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:107398612T>G uc003veq.2 + 6 795 c.465T>G c.(463-465)ATT>ATG p.I155M CBLL1_uc011kme.1_Missense_Mutation_p.I34M|CBLL1_uc011kmf.1_Missense_Mutation_p.I154M NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 155 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 TGCAGCGAATTGAGCAGTGTA 0.363 47 41 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117450849 117450849 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:117450849C>T uc003vjf.2 - 3 476 c.384G>A c.(382-384)CAG>CAA p.Q128Q NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 128 Potential. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CAGCAGCCAGCTGTGCGGACA 0.493 12 170 --- --- --- --- PASS RNF133 168433 broad.mit.edu 37 7 122338528 122338528 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:122338528C>T uc003vkj.1 - 1 681 c.445G>A c.(445-447)GAT>AAT p.D149N CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 149 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 ACAACGACATCTTCAAATGCC 0.433 41 34 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 142510506 142510506 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:142510506T>C uc003wbp.2 - 2 212 c.100A>G c.(100-102)AGC>GGC p.S34G SubName: Full=V_segment translation product; Flags: Fragment; GAGAGCGGGCTGCCCACAGGC 0.577 3 4 --- --- --- --- PASS CASP2 835 broad.mit.edu 37 7 142989494 142989494 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:142989494C>T uc003wco.2 + 3 474 c.327C>T c.(325-327)ACC>ACT p.T109T CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Intron|CASP2_uc003wcq.2_RNA NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 109 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) TGAGGGAGACCAAGCAAGGCC 0.522 7 55 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141054 143141054 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:143141054A>G uc011ktg.1 + 1 509 c.509A>G c.(508-510)TAT>TGT p.Y170C uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 170 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TATCAGAACTATTTAAGGAAC 0.433 5 114 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151860104 151860104 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:151860104G>A uc003wla.2 - 43 10777 c.10558C>T c.(10558-10560)CCA>TCA p.P3520S MLL3_uc003wkz.2_Missense_Mutation_p.P2581S|MLL3_uc003wky.2_Missense_Mutation_p.P1029S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3520 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGATTGATGGTGAATCAGGA 0.463 N medulloblastoma 6 89 --- --- --- --- PASS CNPY1 285888 broad.mit.edu 37 7 155295777 155295777 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:155295777G>T uc003wmc.1 - 4 410 c.265C>A c.(265-267)CAT>AAT p.H89N NM_001103176 NP_001096646 Q3B7I2 CNPY1_HUMAN canopy 1 homolog 89 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGCTCAGTATGATTAGCAGAA 0.383 9 4 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158445095 158445095 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:158445095C>A uc003wnv.1 - 23 2969 c.2824G>T c.(2824-2826)GAT>TAT p.D942Y NCAPG2_uc010lqu.1_Missense_Mutation_p.D734Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D443Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D385Y NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 942 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TCATCTGAATCTGTTTTCTGA 0.363 5 68 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3200838 3200838 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:3200838T>A uc011kwk.1 - 23 4002 c.3612A>T c.(3610-3612)CAA>CAT p.Q1204H CSMD1_uc011kwj.1_Missense_Mutation_p.Q596H|CSMD1_uc003wqe.2_Missense_Mutation_p.Q360H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1204 Extracellular (Potential).|CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGAAAACCTTGGTCGGTGT 0.398 23 15 --- --- --- --- PASS FAM167A 83648 broad.mit.edu 37 8 11301903 11301903 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:11301903G>C uc010lry.1 - 2 638 c.18C>G c.(16-18)ATC>ATG p.I6M FAM167A_uc003wtw.2_Missense_Mutation_p.I6M NM_053279 NP_444509 Q96KS9 F167A_HUMAN hypothetical protein LOC83648 6 0 CTTCCACGTGGATCTGGGGCA 0.672 55 60 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 14412337 14412337 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:14412337C>T uc003wwq.2 - 2 798 c.138G>A c.(136-138)AAG>AAA p.K46K SGCZ_uc010lss.2_Silent_p.K33K NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 33 Cytoplasmic (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATAAGCACCTCTTTCGCCATC 0.393 5 99 --- --- --- --- PASS PIWIL2 55124 broad.mit.edu 37 8 22165558 22165558 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:22165558G>T uc003xbn.2 + 14 1806 c.1658G>T c.(1657-1659)GGG>GTG p.G553V PIWIL2_uc011kzf.1_Missense_Mutation_p.G553V|PIWIL2_uc010ltv.2_Missense_Mutation_p.G553V NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 553 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ATGCGTTGGGGGCTCCGTCTG 0.443 4 7 --- --- --- --- PASS TMEM66 51669 broad.mit.edu 37 8 29927179 29927179 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:29927179C>A uc003xhs.2 - 3 863 c.679G>T c.(679-681)GGC>TGC p.G227C TMEM66_uc003xht.2_Missense_Mutation_p.G227C|TMEM66_uc003xhu.2_Missense_Mutation_p.G191C|TMEM66_uc003xhv.2_Missense_Mutation_p.G55C NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 227 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GACTTAAAGCCTGGGGGAGGA 0.502 22 21 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35579873 35579873 + Silent SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:35579873A>T uc003xjr.1 + 9 1591 c.1263A>T c.(1261-1263)ACA>ACT p.T421T UNC5D_uc003xjs.1_Silent_p.T416T|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Silent_p.T179T NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 421 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTGCATTGACAGGTGGCTTCC 0.552 49 41 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48706936 48706936 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:48706936T>C uc003xqi.2 - 75 10642 c.10585A>G c.(10585-10587)ATT>GTT p.I3529V PRKDC_uc003xqj.2_Missense_Mutation_p.I3529V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3529 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGATAAACAATAGCCTGCGGG 0.443 NHEJ 7 19 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56015839 56015839 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:56015839T>A uc003xsf.2 + 1 823 c.791T>A c.(790-792)CTC>CAC p.L264H NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 264 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) ATCTTGCAGCTCGGGCAAATC 0.572 15 35 --- --- --- --- PASS FAM110B 90362 broad.mit.edu 37 8 59059317 59059317 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:59059317G>C uc003xtj.1 + 5 1408 c.528G>C c.(526-528)GAG>GAC p.E176D NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 176 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GCCCGCAGGAGGGCGGCTCCC 0.677 7 16 --- --- --- --- PASS RAB2A 5862 broad.mit.edu 37 8 61484660 61484660 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:61484660G>T uc003xud.1 + 3 382 c.174G>T c.(172-174)CAG>CAT p.Q58H RAB2A_uc011lef.1_Missense_Mutation_p.Q34H NM_002865 NP_002856 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 58 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity 0 BRCA - Breast invasive adenocarcinoma(89;0.0805) TAAAACTTCAGATATGGGATA 0.318 10 23 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67579091 67579091 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:67579091C>A uc003xwn.2 - 1 362 c.103G>T c.(103-105)GGG>TGG p.G35W SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 35 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTCAAAAGCCCCCCCGAAGCA 0.517 7 8 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69104662 69104662 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:69104662T>A uc003xxv.1 + 37 4533 c.4506T>A c.(4504-4506)GCT>GCA p.A1502A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1502 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 CAAACACAGCTTGCAGTGCTT 0.552 5 18 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70744523 70744523 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:70744523C>A uc003xyl.2 - 2 1093 c.386G>T c.(385-387)TGC>TTC p.C129F SLCO5A1_uc010lzb.2_Missense_Mutation_p.C129F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C129F|SLCO5A1_uc010lzc.2_Missense_Mutation_p.C129F NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 129 Helical; Name=1; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CACCAGGAAGCAACGGGAATC 0.552 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 26 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73849404 73849404 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:73849404G>T uc003xzb.2 + 3 2402 c.1814G>T c.(1813-1815)AGC>ATC p.S605I NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 605 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AGCATCGACAGCTTCACCAGC 0.582 17 45 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99961377 99961377 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:99961377G>C uc003yir.2 + 2 732 c.197G>C c.(196-198)CGC>CCC p.R66P OSR2_uc010mbn.2_Missense_Mutation_p.R66P|OSR2_uc003yiq.2_Missense_Mutation_p.R66P|OSR2_uc011lgx.1_Missense_Mutation_p.R187P NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 66 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GAGATCACCCGCTCCACCATC 0.647 22 32 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106810992 106810992 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:106810992G>T uc003ymd.2 + 7 803 c.780G>T c.(778-780)CGG>CGT p.R260R ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 260 C2HC-type 1. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCTGGTATCGGAGTGAGCGGA 0.488 9 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114111122 114111122 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:114111122C>A uc003ynu.2 - 5 939 c.780G>T c.(778-780)GAG>GAT p.E260D CSMD3_uc003ynt.2_Missense_Mutation_p.E220D|CSMD3_uc011lhx.1_Missense_Mutation_p.E260D|CSMD3_uc010mcx.1_Missense_Mutation_p.E260D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 260 Extracellular (Potential).|CUB 2. 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 TGTTATGGTACTCATTAGGAA 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 34 --- --- --- --- PASS EXT1 2131 broad.mit.edu 37 8 119122650 119122650 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:119122650G>A uc003yok.1 - 1 1409 c.636C>T c.(634-636)GGC>GGT p.G212G NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 212 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GCATCGCCTGGCCGATGTCAA 0.468 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 63 65 --- --- --- --- PASS DEPDC6 64798 broad.mit.edu 37 8 120940741 120940741 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:120940741A>T uc003yow.3 + 2 411 c.224A>T c.(223-225)GAA>GTA p.E75V DEPDC6_uc011lid.1_Intron NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 75 DEP 1. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGGCTGATTGAACACAAAGAG 0.458 40 40 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135614255 135614255 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:135614255G>A uc003yup.2 - 6 1882 c.1707C>T c.(1705-1707)AGC>AGT p.S569S ZFAT_uc003yun.2_Silent_p.S557S|ZFAT_uc003yuo.2_Silent_p.S557S|ZFAT_uc010meh.2_Silent_p.S557S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.S557S|ZFAT_uc010mej.2_Silent_p.S507S|ZFAT_uc003yur.2_Silent_p.S557S NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCAGGGCTGTGCTTTCGGCCT 0.597 16 20 --- --- --- --- PASS EIF2C2 27161 broad.mit.edu 37 8 141583033 141583033 + Splice_Site SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:141583033T>A uc003yvn.2 - 3 256 c.216_splice c.e3-1 p.R72_splice EIF2C2_uc010men.2_Splice_Site|EIF2C2_uc010meo.2_Splice_Site_p.R72_splice NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) ACGATTTCCCTGAAACAAAGA 0.383 25 50 --- --- --- --- PASS OPLAH 26873 broad.mit.edu 37 8 145112765 145112765 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr8:145112765G>A uc003zar.3 - 9 1232 c.1150C>T c.(1150-1152)CGC>TGC p.R384C OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.R162C NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 384 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TTACCTTTGCGGTAGCAGGCG 0.662 6 12 --- --- --- --- PASS HAUS6 54801 broad.mit.edu 37 9 19096745 19096745 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:19096745G>A uc003znk.2 - 2 404 c.151C>T c.(151-153)CGT>TGT p.R51C NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 51 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 AAGGCATCACGGTTCAGCTTG 0.299 8 4 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21974768 21974768 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:21974768G>T uc003zpk.2 - 1 271 c.59C>A c.(58-60)GCG>GAG p.A20E MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.A20E|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 20 ANK 1. A -> P (in a lung tumor and melanoma).|A -> S (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.A20E(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.M9_A20>X(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) ACCCCGGGCCGCGGCCGTGGC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 8 --- --- --- --- PASS LINGO2 158038 broad.mit.edu 37 9 27949549 27949549 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:27949549T>A uc003zqu.1 - 2 1315 c.1121A>T c.(1120-1122)CAG>CTG p.Q374L LINGO2_uc010mjf.1_Missense_Mutation_p.Q374L|LINGO2_uc003zqv.1_Missense_Mutation_p.Q374L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 374 LRRCT.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCCACCAAACTGCAGGGTGGG 0.542 22 17 --- --- --- --- PASS GALT 2592 broad.mit.edu 37 9 34647934 34647934 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:34647934G>T uc003zve.2 + 5 550 c.483G>T c.(481-483)CTG>CTT p.L161L GALT_uc003zvf.2_Silent_p.L52L|GALT_uc003zvg.2_Silent_p.L33L|GALT_uc003zvh.2_Silent_p.L113L|GALT_uc011lop.1_Silent_p.L113L|IL11RA_uc003zvi.2_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 161 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) CAGAGGAGCTGGGTGCCCAGT 0.587 Galactosemia 22 22 --- --- --- --- PASS FBXO10 26267 broad.mit.edu 37 9 37537356 37537356 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:37537356C>T uc004aab.2 - 3 1219 c.1170G>A c.(1168-1170)CTG>CTA p.L390L FBXO10_uc004aac.2_Silent_p.L406L|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 390 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) GAGGTGGGCCCAGAAATGAGC 0.587 3 1 --- --- --- --- PASS CBWD6 644019 broad.mit.edu 37 9 69238318 69238318 + Splice_Site SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:69238318T>A uc004afj.3 - 8 682 c.576_splice c.e8-1 p.R192_splice CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 ATP binding 0 GCAACTTGCCTAAAATAGCAA 0.269 7 64 --- --- --- --- PASS PTCH1 5727 broad.mit.edu 37 9 98215785 98215785 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:98215785C>T uc004avk.3 - 20 3612 c.3424G>A c.(3424-3426)GGA>AGA p.G1142R PTCH1_uc010mro.2_Missense_Mutation_p.G991R|PTCH1_uc010mrp.2_Missense_Mutation_p.G991R|PTCH1_uc010mrq.2_Missense_Mutation_p.G991R|PTCH1_uc004avl.3_Missense_Mutation_p.G991R|PTCH1_uc010mrr.2_Missense_Mutation_p.G1076R|PTCH1_uc004avm.3_Missense_Mutation_p.G1141R NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1142 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AACTCAGATCCCGCCAGCATC 0.483 Basal_Cell_Nevus_syndrome 27 19 --- --- --- --- PASS PTCH1 5727 broad.mit.edu 37 9 98278916 98278916 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:98278916G>T uc004avm.3 - 1 332 c.187C>A c.(187-189)CGC>AGC p.R63S PTCH1_uc010mrr.2_5'UTR|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_RNA|PTCH1_uc010mrw.1_RNA NM_001083603 NP_001077072 Q13635 PTC1_HUMAN patched isoform L' Error:Variant_position_missing_in_Q13635_after_alignment embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TTGTCGCTGCGGGTCTCTTTG 0.398 Basal_Cell_Nevus_syndrome 12 7 --- --- --- --- PASS C9orf4 23732 broad.mit.edu 37 9 111899836 111899836 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr9:111899836C>A uc004bdw.1 - 5 934 c.934G>T c.(934-936)GAC>TAC p.D312Y NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 312 integral to membrane 0 ATAAAAATGTCTTCATACTTG 0.433 49 31 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7239578 7239578 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:7239578T>C uc009xio.1 - 15 1721 c.1630A>G c.(1630-1632)AAC>GAC p.N544D SFMBT2_uc001ijn.1_Missense_Mutation_p.N544D|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 544 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CTTCCTTTGTTCAGGTAAGGG 0.517 29 29 --- --- --- --- PASS CREM 1390 broad.mit.edu 37 10 35500642 35500642 + Nonsense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:35500642C>T uc001iyb.2 + 8 976 c.814C>T c.(814-816)CGA>TGA p.R272* CREM_uc001ixy.2_Nonsense_Mutation_p.R68*|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Nonsense_Mutation_p.R193*|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Nonsense_Mutation_p.R242*|CREM_uc001iyg.2_Nonsense_Mutation_p.R179*|CREM_uc001iyh.2_Nonsense_Mutation_p.R217*|CREM_uc001iyi.2_Nonsense_Mutation_p.R154*|CREM_uc001iyj.2_Nonsense_Mutation_p.R151*|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Nonsense_Mutation_p.R93*|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Nonsense_Mutation_p.R81*|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Nonsense_Mutation_p.R85*|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Nonsense_Mutation_p.R68*|CREM_uc001iyt.2_3'UTR NM_181571 NP_853549 Q03060 CREM_HUMAN cAMP responsive element modulator isoform a 333 Leucine-zipper (By similarity). cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTGGAGAGCCGAGTTGCAGT 0.388 20 17 --- --- --- --- PASS CREM 1390 broad.mit.edu 37 10 35500644 35500644 + Silent SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:35500644A>C uc001iyb.2 + 8 978 c.816A>C c.(814-816)CGA>CGC p.R272R CREM_uc001ixy.2_Silent_p.R68R|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Silent_p.R193R|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Silent_p.R242R|CREM_uc001iyg.2_Silent_p.R179R|CREM_uc001iyh.2_Silent_p.R217R|CREM_uc001iyi.2_Silent_p.R154R|CREM_uc001iyj.2_Silent_p.R151R|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Silent_p.R93R|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Silent_p.R81R|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Silent_p.R85R|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Silent_p.R68R|CREM_uc001iyt.2_3'UTR NM_181571 NP_853549 Q03060 CREM_HUMAN cAMP responsive element modulator isoform a 333 Leucine-zipper (By similarity). cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGGAGAGCCGAGTTGCAGTGC 0.383 21 16 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38343433 38343433 + Missense_Mutation SNP T A A rs150308253 TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:38343433T>A uc001izh.2 + 5 556 c.378T>A c.(376-378)AAT>AAA p.N126K ZNF33A_uc001izg.2_Missense_Mutation_p.N127K|ZNF33A_uc010qev.1_Missense_Mutation_p.N133K|ZNF33A_uc001izi.1_Missense_Mutation_p.N127K NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 126 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TACCATTTAATGTGGATGTAA 0.343 24 24 --- --- --- --- PASS SGMS1 259230 broad.mit.edu 37 10 52103495 52103495 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:52103495T>A uc001jje.2 - 7 1334 c.380A>T c.(379-381)CAG>CTG p.Q127L SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.Q127L|SGMS1_uc010qhl.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 133 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 CATGGGGTACTGAGAGCGCTC 0.502 33 49 --- --- --- --- PASS MBL2 4153 broad.mit.edu 37 10 54529030 54529030 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:54529030G>A uc001jjt.2 - 3 415 c.350C>T c.(349-351)ACA>ATA p.T117I NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 117 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 TGCCATTTCTGTTTGCAGAGC 0.383 31 73 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582004 55582004 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:55582004G>T uc001jju.1 - 33 5877 c.5482C>A c.(5482-5484)CCT>ACT p.P1828T PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1825T|PCDH15_uc010qhw.1_Missense_Mutation_p.P1788T|PCDH15_uc010qhx.1_Missense_Mutation_p.P1759T|PCDH15_uc010qhy.1_Missense_Mutation_p.P1835T|PCDH15_uc010qhz.1_Missense_Mutation_p.P1830T|PCDH15_uc010qia.1_Missense_Mutation_p.P1808T|PCDH15_uc010qib.1_Missense_Mutation_p.P1805T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1828 Poly-Pro.|Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ggaggtggagggcaaggaata 0.279 HNSCC(58;0.16) 23 49 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582375 55582375 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:55582375C>A uc001jju.1 - 33 5506 c.5111G>T c.(5110-5112)AGG>ATG p.R1704M PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1701M|PCDH15_uc010qhw.1_Missense_Mutation_p.R1664M|PCDH15_uc010qhx.1_Missense_Mutation_p.R1635M|PCDH15_uc010qhy.1_Missense_Mutation_p.R1711M|PCDH15_uc010qhz.1_Missense_Mutation_p.R1706M|PCDH15_uc010qia.1_Missense_Mutation_p.R1684M|PCDH15_uc010qib.1_Missense_Mutation_p.R1681M NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1704 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AACACAAGGCCTTGAAGGAGA 0.388 HNSCC(58;0.16) 19 35 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63212657 63212657 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:63212657G>A uc001jlo.2 - 1 552 c.183C>T c.(181-183)GGC>GGT p.G61G TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 61 integral to membrane 0 Prostate(12;0.0112) ACCATTTGTAGCCTCTGCCGC 0.632 46 55 --- --- --- --- PASS PPP3CB 5532 broad.mit.edu 37 10 75231333 75231333 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:75231333T>C uc001jue.2 - 5 697 c.562A>G c.(562-564)ATG>GTG p.M188V PPP3CB_uc001juf.2_Missense_Mutation_p.M188V|PPP3CB_uc001jug.2_Missense_Mutation_p.M188V|PPP3CB_uc001jui.2_Missense_Mutation_p.M206V|PPP3CB_uc001juh.2_Missense_Mutation_p.M102V NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 188 Catalytic. skin(1) 1 Prostate(51;0.0119) AAAGCTTCCATACAAGCTTCA 0.338 17 61 --- --- --- --- PASS LDB3 11155 broad.mit.edu 37 10 88451677 88451677 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:88451677C>A uc001kdv.2 + 5 737 c.714C>A c.(712-714)GCC>GCA p.A238A LDB3_uc010qml.1_Silent_p.A238A|LDB3_uc010qmm.1_Silent_p.A306A|LDB3_uc001kdu.2_Silent_p.A191A|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Silent_p.A191A|LDB3_uc009xsy.2_Silent_p.A306A|LDB3_uc001kds.2_Silent_p.A238A|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 238 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 AGGACCTTGCCGTAGACAGCG 0.607 29 59 --- --- --- --- PASS FAM22A 728118 broad.mit.edu 37 10 88985864 88985864 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:88985864G>A uc001kek.2 + 1 660 c.277G>A c.(277-279)GGT>AGT p.G93S LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron NM_001099338 NP_001092808 Q8IVF1 FA22A_HUMAN hypothetical protein LOC728118 93 0 AGGAGCATCTGGTGAGCCAGG 0.542 29 10 --- --- --- --- PASS CNNM1 26507 broad.mit.edu 37 10 101090567 101090567 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:101090567A>G uc001kpp.3 + 1 1712 c.1423A>G c.(1423-1425)ATT>GTT p.I475V CNNM1_uc009xwe.2_Missense_Mutation_p.I475V|CNNM1_uc010qpi.1_Missense_Mutation_p.I475V|CNNM1_uc009xwf.2_Missense_Mutation_p.I475V NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 475 CBS 1. ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCGGCACAACATTGTGGACAT 0.607 18 20 --- --- --- --- PASS SLC25A28 81894 broad.mit.edu 37 10 101371025 101371025 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:101371025G>A uc001kpx.2 - 4 805 c.676C>T c.(676-678)CGC>TGC p.R226C SLC25A28_uc001kpy.2_Missense_Mutation_p.R39C NM_031212 NP_112489 Q96A46 MFRN2_HUMAN solute carrier family 25, member 28 226 Solcar 2. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) GTGTAGCTGCGGTAAAAGGCC 0.532 28 52 --- --- --- --- PASS CUTC 51076 broad.mit.edu 37 10 101514391 101514391 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:101514391G>A uc001kqd.3 + 8 855 c.707G>A c.(706-708)CGA>CAA p.R236Q CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 236 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) ATGAAGTTTCGGTAAAAATGT 0.378 38 96 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106737162 106737162 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:106737162C>A uc001kyi.1 + 4 1092 c.865C>A c.(865-867)CAG>AAG p.Q289K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 289 BNR 2.|Lumenal (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) GGCGACCTATCAGAAGTATCG 0.458 18 31 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108339127 108339127 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:108339127C>A uc001kym.2 - 25 3379 c.3371G>T c.(3370-3372)AGG>ATG p.R1124M SORCS1_uc001kyl.2_Missense_Mutation_p.R1124M|SORCS1_uc009xxs.2_Missense_Mutation_p.R1124M|SORCS1_uc001kyn.1_Missense_Mutation_p.R1124M|SORCS1_uc001kyo.2_Missense_Mutation_p.R1124M NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1124 Cytoplasmic (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GGACACGCACCTTTTAAACTT 0.532 10 35 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112357972 112357972 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:112357972C>G uc001kze.2 + 20 2318 c.2192C>G c.(2191-2193)TCT>TGT p.S731C NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 731 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) TTTAAAGCATCTAGAGATAGC 0.348 55 104 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120801831 120801831 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:120801831C>A uc001ldu.2 - 19 3347 c.3201G>T c.(3199-3201)CGG>CGT p.R1067R EIF3A_uc010qsu.1_Silent_p.R1033R|EIF3A_uc009xzg.1_Silent_p.R106R NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1067 15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GCCTGGGACCCCGGTCATCAT 0.637 67 137 --- --- --- --- PASS PLEKHA1 59338 broad.mit.edu 37 10 124175428 124175428 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr10:124175428G>T uc001lge.1 + 7 645 c.522G>T c.(520-522)CGG>CGT p.R174R PLEKHA1_uc001lgf.1_Silent_p.R174R|PLEKHA1_uc001lgg.1_Silent_p.R174R|PLEKHA1_uc001lgh.2_Silent_p.R174R NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 174 B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATCTGAAACGGTCACAAAGCC 0.343 15 23 --- --- --- --- PASS HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T C C rs121913233 TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:533874T>C uc001lpv.2 - 3 370 c.182A>G c.(181-183)CAG>CGG p.Q61R HRAS_uc010qvw.1_Missense_Mutation_p.Q61R|HRAS_uc010qvx.1_Missense_Mutation_p.Q61R|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS) 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 4 54 --- --- --- --- PASS NAP1L4 4676 broad.mit.edu 37 11 2985954 2985954 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:2985954G>A uc001lxc.2 - 8 703 c.562C>T c.(562-564)CTG>TTG p.L188L NAP1L4_uc010qxm.1_Silent_p.L188L|NAP1L4_uc010qxn.1_Silent_p.L188L|SNORA54_uc001lxd.1_5'Flank NM_005969 NP_005960 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 188 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding ovary(1) 1 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) ATATCCTGCAGGTGTTTCAAG 0.398 7 10 --- --- --- --- PASS OR52N2 390077 broad.mit.edu 37 11 5842195 5842195 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:5842195G>T uc010qzp.1 + 1 630 c.630G>T c.(628-630)GTG>GTT p.V210V TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATTGGTGTGTTTGATATCT 0.458 69 61 --- --- --- --- PASS CTR9 9646 broad.mit.edu 37 11 10785972 10785972 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:10785972G>T uc001mja.2 + 11 1551 c.1402G>T c.(1402-1404)GGG>TGG p.G468W NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 468 TPR 9. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGGAAACCTAGGGGAGGCTAA 0.388 27 26 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20699477 20699477 + Splice_Site SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:20699477G>A uc001mqe.2 + 2 209 c.56_splice c.e2-1 p.V19_splice NELL1_uc001mqf.2_Splice_Site_p.V19_splice|NELL1_uc009yid.2_Splice_Site_p.V47_splice|NELL1_uc010rdo.1_Splice_Site_p.V19_splice|NELL1_uc010rdp.1_Splice_Site NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TTCCTTTCCAGTGGTGGGCTT 0.498 28 16 --- --- --- --- PASS DCDC1 341019 broad.mit.edu 37 11 31312327 31312327 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:31312327C>A uc001msv.2 - 7 1029 c.827G>T c.(826-828)CGG>CTG p.R276L DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 276 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTTGGTTTTCCGTCTTTTGAT 0.378 29 21 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43344985 43344985 + Silent SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:43344985A>T uc010rfh.1 + 6 722 c.549A>T c.(547-549)CTA>CTT p.L183L API5_uc010rfg.1_Silent_p.L172L|API5_uc001mxf.2_Silent_p.L183L|API5_uc010rfi.1_Silent_p.L129L|API5_uc001mxg.2_Silent_p.L57L NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 183 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCCAGGTCCTAGAAGATGTGA 0.358 15 11 --- --- --- --- PASS CHRM4 1132 broad.mit.edu 37 11 46407307 46407307 + Silent SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:46407307C>G uc001nct.1 - 1 801 c.801G>C c.(799-801)CTG>CTC p.L267L NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 267 Cytoplasmic (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGCCATTGCGCAGCTCCTCCC 0.662 4 14 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003963 50003963 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:50003963C>A uc010ria.1 - 1 75 c.75G>T c.(73-75)ACG>ACT p.T25T NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 25 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATACTACAAACGTGACTTTCT 0.408 9 49 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606555 55606555 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:55606555G>C uc010rio.1 + 1 328 c.328G>C c.(328-330)GTA>CTA p.V110L NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TTGCACCTTTGTAGTGACTGA 0.433 35 120 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703463 55703463 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:55703463C>T uc010ris.1 - 1 414 c.414G>A c.(412-414)ATG>ATA p.M138I NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGCCCCTAGACATCACAACTG 0.443 9 22 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761731 55761731 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:55761731G>T uc010riv.1 - 1 371 c.371C>A c.(370-372)GCG>GAG p.A124E NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) ACATATGGCCGCATACCTGTC 0.507 6 40 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043272 56043272 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56043272G>T uc001nio.1 + 1 158 c.158G>T c.(157-159)GGC>GTC p.G53V NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 53 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) ACTCTAATAGGCAATTTAGGG 0.348 12 56 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043836 56043836 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56043836A>C uc001nio.1 + 1 722 c.722A>C c.(721-723)CAG>CCG p.Q241P NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CTGAAGATGCAGTCTGCTGAA 0.428 49 83 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043837 56043837 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56043837G>T uc001nio.1 + 1 723 c.723G>T c.(721-723)CAG>CAT p.Q241H NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGAAGATGCAGTCTGCTGAAG 0.423 51 84 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230024 56230024 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56230024G>T uc010rjj.1 - 1 854 c.854C>A c.(853-855)CCC>CAC p.P285H NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GTAGATCATGGGATTCAACAT 0.423 15 61 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230412 56230412 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56230412T>C uc010rjj.1 - 1 466 c.466A>G c.(466-468)ATA>GTA p.I156V NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) AGTGTGCATATTAGGCTGACA 0.463 31 43 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380693 56380693 + Nonsense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:56380693C>A uc001nja.1 - 1 286 c.286G>T c.(286-288)GGA>TGA p.G96* NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GTGAAGCATCCAGCGTAGGAG 0.463 14 43 --- --- --- --- PASS SLC43A1 8501 broad.mit.edu 37 11 57268684 57268684 + Silent SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:57268684G>C uc001nkk.2 - 3 391 c.273C>G c.(271-273)ACC>ACG p.T91T SLC43A1_uc001nkl.2_Silent_p.T91T NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 91 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 CCAGTGGCAGGGTGGTGGCGC 0.662 21 25 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886380 57886380 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:57886380A>C uc001nml.1 - 1 537 c.537T>G c.(535-537)TGT>TGG p.C179W OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GTGGGAGGTCACAGAAGAAGA 0.493 9 16 --- --- --- --- PASS MS4A4A 51338 broad.mit.edu 37 11 60068526 60068526 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:60068526G>C uc001noz.2 + 4 393 c.383G>C c.(382-384)GGC>GCC p.G128A MS4A4A_uc001npa.2_Missense_Mutation_p.G109A|MS4A4A_uc001npb.2_Missense_Mutation_p.G109A|MS4A4A_uc001npc.2_Missense_Mutation_p.G109A NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 128 Cytoplasmic (Potential). integral to membrane receptor activity 0 ACTACAAAAGGCCTGGTGAGT 0.303 4 19 --- --- --- --- PASS SLC22A6 9356 broad.mit.edu 37 11 62749475 62749475 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:62749475C>A uc001nwk.2 - 4 943 c.636G>T c.(634-636)GAG>GAT p.E212D SLC22A6_uc001nwl.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwj.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwm.2_Missense_Mutation_p.E212D NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 212 Helical; (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 TGGGCATCCACTCCACATCTG 0.597 4 8 --- --- --- --- PASS PC 5091 broad.mit.edu 37 11 66617769 66617769 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:66617769G>A uc001ojn.1 - 17 2689 c.2640C>T c.(2638-2640)AGC>AGT p.S880S PC_uc001ojo.1_Silent_p.S880S|PC_uc001ojp.1_Silent_p.S880S|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 880 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CAAGCCCCATGCTGTGGGCCT 0.592 18 32 --- --- --- --- PASS SESN3 143686 broad.mit.edu 37 11 94963997 94963997 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:94963997C>T uc001pfk.1 - 1 250 c.28G>A c.(28-30)GCC>ACC p.A10T SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.A10T NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 10 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TTGGCGGCGGCCGACGGGCTG 0.751 14 10 --- --- --- --- PASS APOA5 116519 broad.mit.edu 37 11 116661392 116661392 + Missense_Mutation SNP C T T rs2075291 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:116661392C>T uc001ppr.2 - 3 561 c.553G>A c.(553-555)GGC>AGC p.G185S ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G185S|APOA5_uc009yzf.2_Missense_Mutation_p.G185S|APOA5_uc009yzg.2_Missense_Mutation_p.G211S NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 185 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TTGAAGCGGCCGGTGTGGTGC 0.692 14 18 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116717266 116717266 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:116717266C>A uc001ppy.2 - 23 3674 c.3638G>T c.(3637-3639)TGT>TTT p.C1213F SIK3_uc001ppz.2_Missense_Mutation_p.C1052F|SIK3_uc001pqa.2_Missense_Mutation_p.C1153F|SIK3_uc001ppw.2_Missense_Mutation_p.C570F|SIK3_uc001ppx.2_Missense_Mutation_p.C591F NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 1213 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GCTTGCCCCACATTCTGCAAG 0.522 13 23 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119103223 119103223 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:119103223G>A uc001pwe.2 + 2 399 c.261G>A c.(259-261)CTG>CTA p.L87L NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 87 Cbl-PTB.|4H. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCTTAGACCTGCTACCAGATA 0.438 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 7 33 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119149393 119149393 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:119149393C>A uc001pwe.2 + 9 1539 c.1401C>A c.(1399-1401)CTC>CTA p.L467L NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 467 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) ATGATACTCTCTTCATGATGA 0.463 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 3 39 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810823 123810823 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:123810823C>A uc001pzk.1 + 1 500 c.500C>A c.(499-501)CCA>CAA p.P167Q NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ATCCAGCTGCCATTCTGTGGG 0.478 15 50 --- --- --- --- PASS ST14 6768 broad.mit.edu 37 11 130079677 130079677 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:130079677C>G uc001qfw.2 + 19 2720 c.2527C>G c.(2527-2529)CCT>GCT p.P843A NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 843 Extracellular (Potential).|Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CACAAGGCTCCCTCTGTTTCG 0.637 20 23 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132812855 132812855 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:132812855C>A uc001qgs.2 - 1 183 c.133G>T c.(133-135)GTG>TTG p.V45L OPCML_uc001qgu.2_Missense_Mutation_p.V38L|OPCML_uc010sck.1_Missense_Mutation_p.V45L|OPCML_uc001qgt.2_Missense_Mutation_p.V45L|OPCML_uc010scl.1_Missense_Mutation_p.V4L NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 45 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGGACCGTCACGTTGTCCATA 0.662 12 49 --- --- --- --- PASS WNT5B 81029 broad.mit.edu 37 12 1749057 1749057 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:1749057G>T uc009zdq.2 + 4 778 c.536G>T c.(535-537)CGG>CTG p.R179L WNT5B_uc001qjj.2_Missense_Mutation_p.R179L|WNT5B_uc001qjk.2_Missense_Mutation_p.R179L|WNT5B_uc001qjl.2_Missense_Mutation_p.R179L NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 179 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) GTGGATGCCCGGGAGCGAGAG 0.647 29 33 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2933282 2933282 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:2933282G>T uc001qlb.1 + 12 1331 c.1267G>T c.(1267-1269)GCC>TCC p.A423S ITFG2_uc010seb.1_Missense_Mutation_p.A246S|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 423 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGTGACTCGTGCCCTGCTTCA 0.602 62 76 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4736244 4736244 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:4736244C>A uc001qnb.3 - 4 2053 c.1824G>T c.(1822-1824)AAG>AAT p.K608N NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 608 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TCTGGTCACGCTTGAAAATGG 0.478 11 156 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5708742 5708742 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:5708742G>C uc001qnm.2 - 21 2213 c.2141C>G c.(2140-2142)ACT>AGT p.T714S NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 719 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GGCAGAGTCAGTTTCTCCAGC 0.453 29 147 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6085427 6085427 + Splice_Site SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:6085427C>T uc001qnn.1 - 43 7538 c.7288_splice c.e43-1 p.V2430_splice VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGACACACACCTGTAGACATA 0.378 44 63 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9016433 9016433 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:9016433C>A uc001quz.3 + 29 3644 c.3546C>A c.(3544-3546)AAC>AAA p.N1182K A2ML1_uc001qva.1_Missense_Mutation_p.N762K|A2ML1_uc010sgm.1_Missense_Mutation_p.N682K NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1026 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CATCATCGAACGCCAGCCCTT 0.483 51 75 --- --- --- --- PASS MANSC1 54682 broad.mit.edu 37 12 12483101 12483101 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:12483101G>C uc001rai.1 - 4 1414 c.1156C>G c.(1156-1158)CTT>GTT p.L386V MANSC1_uc010shm.1_Missense_Mutation_p.L320V|MANSC1_uc001raj.1_Missense_Mutation_p.L352V|MANSC1_uc009zht.1_Missense_Mutation_p.L305V NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 386 Helical; (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) GACCCGATAAGAAGCCATTTT 0.527 41 63 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13768106 13768106 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:13768106T>A uc001rbt.2 - 7 1775 c.1596A>T c.(1594-1596)ACA>ACT p.T532T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 532 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACTGATGCCTGTCTCTATGA 0.512 73 94 --- --- --- --- PASS RERGL 79785 broad.mit.edu 37 12 18234228 18234228 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:18234228A>G uc001rdq.2 - 6 709 c.515T>C c.(514-516)ATC>ACC p.I172T RERGL_uc001rdr.2_Missense_Mutation_p.I171T NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 172 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 GTTTATCAGGATGTCCTTGAT 0.398 44 80 --- --- --- --- PASS RERGL 79785 broad.mit.edu 37 12 18241849 18241849 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:18241849A>T uc001rdq.2 - 3 291 c.97T>A c.(97-99)TAT>AAT p.Y33N RERGL_uc001rdr.2_Missense_Mutation_p.Y32N NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 33 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 TTAGAAGCATATTCTCCAATG 0.328 50 87 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21243002 21243002 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:21243002G>A uc010sil.1 + 16 2274 c.2209G>A c.(2209-2211)GAC>AAC p.D737N LST-3TM12_uc010sim.1_Missense_Mutation_p.D676N|LST-3TM12_uc010sin.1_Missense_Mutation_p.D629N Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ATTCTTAAACGACAGTGAACA 0.303 9 23 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21349910 21349910 + Missense_Mutation SNP G C C rs11045853 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:21349910G>C uc001req.3 + 8 862 c.758G>C c.(757-759)CGA>CCA p.R253P NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 253 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ACTGATTCTCGATGGGTTGGA 0.363 81 120 --- --- --- --- PASS KLHDC5 57542 broad.mit.edu 37 12 27950953 27950953 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:27950953G>T uc001rij.2 + 3 1449 c.1372G>T c.(1372-1374)GTC>TTC p.V458F KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 458 Kelch 6. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) GAGCAGAGACGTCACCCTGTC 0.498 52 68 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43822445 43822445 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:43822445C>A uc010skx.1 - 25 3647 c.3647G>T c.(3646-3648)TGG>TTG p.W1216L ADAMTS20_uc001rno.1_Missense_Mutation_p.W334L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W370L NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1216 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TACGGGTGACCAATCCCCTGC 0.333 3 12 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43860456 43860456 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:43860456C>A uc010skx.1 - 9 1366 c.1366G>T c.(1366-1368)GAT>TAT p.D456Y NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 456 Peptidase M12B. D -> E (in Ref. 2; CAD56159/CAD56160). proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTTACTTACTCTAGGAATTCA 0.308 7 31 --- --- --- --- PASS ENDOU 8909 broad.mit.edu 37 12 48107147 48107147 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:48107147A>G uc001rpu.1 - 7 930 c.776T>C c.(775-777)TTT>TCT p.F259S ENDOU_uc010sll.1_Missense_Mutation_p.F25S|ENDOU_uc001rpt.1_Missense_Mutation_p.F218S|ENDOU_uc010slm.1_Missense_Mutation_p.F196S NM_006025 NP_006016 P21128 ENDOU_HUMAN placental protein 11 precursor 259 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity ovary(2)|pancreas(1) 3 GTCATCGACAAACTCTTGCTC 0.522 27 86 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53823386 53823386 + Nonsense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:53823386C>T uc001scx.1 + 8 1195 c.1117C>T c.(1117-1119)CAA>TAA p.Q373* AMHR2_uc009zmy.1_Nonsense_Mutation_p.Q373* NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 373 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) TACTCAACCACAAGGCCCAGC 0.577 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 4 18 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54920461 54920461 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:54920461C>T uc001sgc.3 + 21 2385 c.2306C>T c.(2305-2307)GCC>GTC p.A769V NCKAP1L_uc010sox.1_Missense_Mutation_p.A311V|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 769 NA -> KP (in Ref. 1; AAA35964). actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 ATCCGCAACGCCCTCCTGCAG 0.517 6 28 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57587745 57587745 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:57587745G>T uc001snd.2 + 48 8334 c.7868G>T c.(7867-7869)CGC>CTC p.R2623L MIR1228_hsa-mir-1228|MI0006318_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2623 LDL-receptor class A 13.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AACTCCAGCCGCTGCAACCAG 0.622 4 31 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62946856 62946856 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:62946856C>A uc001sre.2 + 24 3503 c.3112C>A c.(3112-3114)CCT>ACT p.P1038T MON2_uc009zqj.2_Missense_Mutation_p.P1038T|MON2_uc010ssl.1_Missense_Mutation_p.P966T|MON2_uc010ssm.1_Missense_Mutation_p.P1015T|MON2_uc010ssn.1_Missense_Mutation_p.P1038T|MON2_uc001srf.2_Missense_Mutation_p.P801T NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1039 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGATCCCCGTCCTGCTGTCAG 0.458 20 102 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72056843 72056843 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:72056843C>A uc001swo.2 - 1 907 c.548G>T c.(547-549)GGG>GTG p.G183V ZFC3H1_uc010sts.1_Missense_Mutation_p.G183V|ZFC3H1_uc001swp.2_Missense_Mutation_p.G183V|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 183 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCTGCTGAACCCGGATCCTGC 0.642 67 91 --- --- --- --- PASS SYT1 6857 broad.mit.edu 37 12 79611379 79611379 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:79611379C>G uc001sys.2 + 5 751 c.80C>G c.(79-81)ACA>AGA p.T27R SYT1_uc001syt.2_Missense_Mutation_p.T27R|SYT1_uc001syu.2_Missense_Mutation_p.T27R|SYT1_uc001syv.2_Missense_Mutation_p.T27R NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 27 Vesicular (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 AGCAACGCCACAGAGCCAGCC 0.493 7 30 --- --- --- --- PASS MYF6 4618 broad.mit.edu 37 12 81101699 81101699 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:81101699C>A uc001szf.1 + 1 254 c.201C>A c.(199-201)GGC>GGA p.G67G NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 67 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CGCCCCCGGGCCTGCAGCCTC 0.652 12 33 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88376963 88376963 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:88376963G>A uc001tam.1 - 12 1304 c.1136C>T c.(1135-1137)ACG>ATG p.T379M NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 379 skin(2)|ovary(1) 3 TGATGTTGACGTATATTTGTC 0.294 28 44 --- --- --- --- PASS C12orf12 196477 broad.mit.edu 37 12 91347960 91347960 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:91347960G>T uc001tbj.2 - 1 994 c.560C>A c.(559-561)CCC>CAC p.P187H NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 187 central_nervous_system(1)|pancreas(1) 2 GGTGGTGTTGGGCGGCGCTCG 0.657 16 67 --- --- --- --- PASS GLT8D2 83468 broad.mit.edu 37 12 104390537 104390537 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:104390537G>A uc001tkh.1 - 8 982 c.576C>T c.(574-576)GAC>GAT p.D192D GLT8D2_uc001tki.1_Silent_p.D192D NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 192 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 GTCTGTTTATGTCCTGAGCAG 0.522 13 57 --- --- --- --- PASS ATP2A2 488 broad.mit.edu 37 12 110780213 110780213 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:110780213A>C uc001tqk.3 + 15 2841 c.2278A>C c.(2278-2280)ATC>CTC p.I760L ATP2A2_uc001tql.3_Missense_Mutation_p.I760L|ATP2A2_uc010sxy.1_Missense_Mutation_p.I733L NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 760 Helical; Name=5; (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 GAAACAGTTCATCCGCTACCT 0.522 3 24 --- --- --- --- PASS ATP2A2 488 broad.mit.edu 37 12 110780229 110780229 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:110780229C>T uc001tqk.3 + 15 2857 c.2294C>T c.(2293-2295)TCG>TTG p.S765L ATP2A2_uc001tql.3_Missense_Mutation_p.S765L|ATP2A2_uc010sxy.1_Missense_Mutation_p.S738L NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 765 Helical; Name=5; (By similarity). S -> L (in DD). 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 TACCTCATCTCGTCCAACGTC 0.522 3 16 --- --- --- --- PASS OAS2 4939 broad.mit.edu 37 12 113444232 113444232 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:113444232G>A uc001tuj.2 + 8 1623 c.1483G>A c.(1483-1485)GGC>AGC p.G495S OAS2_uc001tui.1_Missense_Mutation_p.G495S NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 495 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 GCTGAGTTCTGGCTCCACACC 0.448 22 32 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126138840 126138840 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:126138840C>T uc001uhe.1 + 9 2829 c.2821C>T c.(2821-2823)CAT>TAT p.H941Y TMEM132B_uc001uhf.1_Missense_Mutation_p.H453Y NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 941 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAACATCCCCCATTCCCACGA 0.502 12 42 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20038618 20038618 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:20038618G>C uc001umd.2 - 11 930 c.719C>G c.(718-720)TCT>TGT p.S240C TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.S129C|TPTE2_uc001ume.2_Missense_Mutation_p.S163C|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 240 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCTATAGAAAGACTGCCTTCC 0.313 27 26 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32729647 32729647 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:32729647G>A uc001utx.2 + 15 1995 c.1499G>A c.(1498-1500)CGG>CAG p.R500Q FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTGGTTTACGGGCATTCTTG 0.423 21 13 --- --- --- --- PASS MLNR 2862 broad.mit.edu 37 13 49794875 49794875 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:49794875C>A uc010tgj.1 + 1 402 c.402C>A c.(400-402)GTC>GTA p.V134V NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 134 Helical; Name=3; (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CGCTCAGCGTCGAGCGCTACC 0.746 7 3 --- --- --- --- PASS MLNR 2862 broad.mit.edu 37 13 49794876 49794876 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:49794876G>T uc010tgj.1 + 1 403 c.403G>T c.(403-405)GAG>TAG p.E135* NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 135 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) GCTCAGCGTCGAGCGCTACCT 0.741 7 3 --- --- --- --- PASS INTS6 26512 broad.mit.edu 37 13 51963478 51963478 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:51963478C>A uc001vfk.2 - 6 1330 c.716G>T c.(715-717)GGA>GTA p.G239V INTS6_uc001vfj.2_Missense_Mutation_p.G226V|INTS6_uc001vfl.2_Missense_Mutation_p.G61V NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 239 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) AGGATCTGGTCCTGCTTTTTC 0.373 49 46 --- --- --- --- PASS NEK5 341676 broad.mit.edu 37 13 52693542 52693542 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:52693542G>T uc001vge.2 - 4 267 c.127C>A c.(127-129)CAA>AAA p.Q43K NEK5_uc001vgf.2_Missense_Mutation_p.Q43K NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 43 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TCTTTTTCTTGTATGGGCATC 0.333 14 11 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101936327 101936327 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:101936327A>T uc001vox.1 - 10 1280 c.1091T>A c.(1090-1092)GTG>GAG p.V364E NALCN_uc001voy.2_Missense_Mutation_p.V79E|NALCN_uc001voz.2_Missense_Mutation_p.V364E|NALCN_uc001vpa.2_Missense_Mutation_p.V364E NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 364 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTTGACATCCACAGCTACCAG 0.458 26 7 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109496795 109496795 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr13:109496795G>T uc001vqt.1 + 10 1262 c.1136G>T c.(1135-1137)AGC>ATC p.S379I MYO16_uc010agk.1_Missense_Mutation_p.S401I|MYO16_uc001vqu.1_Missense_Mutation_p.S179I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 379 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) TCTCAGGACAGCATCCCTGAA 0.438 30 11 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444238 20444238 + Silent SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:20444238T>C uc010tkx.1 + 1 561 c.561T>C c.(559-561)ACT>ACC p.T187T NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGCATTCACTGTTAATCTGC 0.448 101 45 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47504487 47504487 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:47504487G>T uc001wwj.3 - 8 1535 c.1339C>A c.(1339-1341)CCA>ACA p.P447T MDGA2_uc001wwi.3_Missense_Mutation_p.P218T|MDGA2_uc010ani.2_Intron NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 447 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TTTTCCTGTGGAACAGTCAGA 0.373 22 67 --- --- --- --- PASS TRIM9 114088 broad.mit.edu 37 14 51446186 51446186 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:51446186G>T uc001wyx.3 - 9 2754 c.1989C>A c.(1987-1989)AAC>AAA p.N663K TRIM9_uc001wyy.2_Missense_Mutation_p.N744K NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 663 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GTTGTTCATCGTTGATAAAAA 0.473 61 110 --- --- --- --- PASS DACT1 51339 broad.mit.edu 37 14 59113158 59113158 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:59113158G>T uc001xdw.2 + 4 1981 c.1817G>T c.(1816-1818)CGG>CTG p.R606L DACT1_uc010trv.1_Missense_Mutation_p.R325L|DACT1_uc001xdx.2_Missense_Mutation_p.R569L|DACT1_uc010trw.1_Missense_Mutation_p.R325L NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 606 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GAGAAAACGCGGGCCGGGAGC 0.612 9 7 --- --- --- --- PASS PPM1A 5494 broad.mit.edu 37 14 60749954 60749954 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:60749954C>T uc010apn.2 + 3 935 c.533C>T c.(532-534)GCA>GTA p.A178V PPM1A_uc001xew.3_Missense_Mutation_p.A251V|PPM1A_uc001xex.3_Missense_Mutation_p.A178V|PPM1A_uc001xey.3_Missense_Mutation_p.A178V NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 178 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) ATTCAGAATGCAGGTGGCTCT 0.443 37 27 --- --- --- --- PASS SIX1 6495 broad.mit.edu 37 14 61115638 61115638 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:61115638C>T uc001xfb.3 - 1 518 c.270G>A c.(268-270)GCG>GCA p.A90A NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 90 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CCACGTAATGCGCCTTCAGCC 0.627 4 113 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71455316 71455316 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:71455316C>T uc001xmo.2 + 7 2790 c.2344C>T c.(2344-2346)CGC>TGC p.R782C PCNX_uc001xmn.3_Missense_Mutation_p.R782C|PCNX_uc010are.1_Intron NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 782 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGTGTCATTTCGCCGTGAACG 0.557 39 50 --- --- --- --- PASS DPF3 8110 broad.mit.edu 37 14 73238547 73238547 + Silent SNP T G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:73238547T>G uc001xnc.2 - 2 100 c.87A>C c.(85-87)TCA>TCC p.S29S DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Silent_p.S29S|DPF3_uc010ttq.1_Silent_p.S39S NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 29 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CACACAGCCGTGAGTTGTAAC 0.582 13 24 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75302033 75302033 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:75302033C>T uc001xqj.3 + 20 6484 c.6360C>T c.(6358-6360)GTC>GTT p.V2120V YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTTTTGTGGTCGGACAGACTG 0.438 14 39 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79432646 79432646 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:79432646T>A uc001xun.2 + 9 2046 c.1555T>A c.(1555-1557)TCC>ACC p.S519T NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S644T NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 892 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGCTTACACCTCCATGCACCT 0.498 4 72 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79434533 79434533 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:79434533G>T uc001xun.2 + 11 2358 c.1867G>T c.(1867-1869)GGT>TGT p.G623C NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G748C NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 996 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTATATGGCTGGTCTGGCCCA 0.473 21 26 --- --- --- --- PASS GALC 2581 broad.mit.edu 37 14 88454828 88454828 + Missense_Mutation SNP G A A rs73312829 by1000genomes TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:88454828G>A uc001xvt.2 - 2 634 c.235C>T c.(235-237)CGT>TGT p.R79C GALC_uc010tvx.1_Missense_Mutation_p.R53C|GALC_uc010tvy.1_Intron|GALC_uc010tvz.1_Missense_Mutation_p.R23C|GALC_uc001xvu.1_Missense_Mutation_p.R79C NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 79 R -> H (in GLD). carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 ATCTGAGAACGATAGGGCTCT 0.318 23 44 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88892720 88892720 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:88892720G>T uc001xwq.2 + 6 668 c.517G>T c.(517-519)GAG>TAG p.E173* SPATA7_uc001xwr.2_Nonsense_Mutation_p.E141*|SPATA7_uc001xws.2_Nonsense_Mutation_p.E109*|SPATA7_uc001xwt.2_Nonsense_Mutation_p.E67*|SPATA7_uc001xwu.2_5'Flank NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 173 response to stimulus|visual perception ovary(1) 1 AAATGGTCCTGAGAAGAACTC 0.498 13 53 --- --- --- --- PASS RPS6KA5 9252 broad.mit.edu 37 14 91386632 91386632 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:91386632C>A uc001xys.2 - 7 939 c.724G>T c.(724-726)GGT>TGT p.G242C RPS6KA5_uc010twi.1_Missense_Mutation_p.G163C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.G242C|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 242 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) ATTAGAACACCCAAACTCCAC 0.289 16 78 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93677055 93677055 + Splice_Site SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:93677055G>C uc001ybm.3 + 3 581 c.345_splice c.e3+1 p.P115_splice UBR7_uc001ybn.3_Splice_Site_p.P39_splice|UBR7_uc010auq.2_Splice_Site NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin ubiquitin-protein ligase activity|zinc ion binding 0 ATTACTTCCTGTAAGTAAGCA 0.294 7 5 --- --- --- --- PASS SERPINA12 145264 broad.mit.edu 37 14 94953751 94953751 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:94953751C>T uc001ydj.2 - 6 1930 c.1134G>A c.(1132-1134)ATG>ATA p.M378I NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 378 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) GTGGTGTCTCCATGGGCAGAG 0.537 41 49 --- --- --- --- PASS CCNK 8812 broad.mit.edu 37 14 99961950 99961950 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:99961950T>A uc001ygi.3 + 4 525 c.395T>A c.(394-396)TTT>TAT p.F132Y CCNK_uc001ygg.3_Missense_Mutation_p.F132Y NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 132 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) TTTGGCCAGTTTGGAGATGAC 0.378 24 142 --- --- --- --- PASS SNORD114-6 767582 broad.mit.edu 37 14 101423527 101423527 + RNA SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:101423527C>T uc001yiw.2 + 1 c.25C>T NR_003198 Homo sapiens small nucleolar RNA, C/D box 114-6 (SNORD114-6), non-coding RNA. 0 CCACTGGTGGCGTATAAATCA 0.318 3 25 --- --- --- --- PASS MIR541 100126308 broad.mit.edu 37 14 101530870 101530870 + RNA SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:101530870A>T hsa-mir-541|MI0005539 + c.39A>T MIR409_hsa-mir-409|MI0001735_5'Flank|MIR412_hsa-mir-412|MI0002464_5'Flank|uc010txp.1_5'Flank|MIR369_hsa-mir-369|MI0000777_5'Flank|MIR410_hsa-mir-410|MI0002465_5'Flank|MIR656_hsa-mir-656|MI0003678_5'Flank 0 CCCACTCCAAAGTTCACAGAA 0.592 4 24 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106757888 106757888 + RNA SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:106757888G>T uc010tyt.1 - 472 c.16177C>A Parts of antibodies, mostly variable regions. 0 GACGGTGCAGGTCAGCGTGAG 0.557 21 14 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20651270 20651270 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:20651270T>C uc001ytg.2 - 17 2387 c.1678A>G c.(1678-1680)ATG>GTG p.M560V uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.M560V|uc010tyy.1_Missense_Mutation_p.M560V RecName: Full=Putative HERC2-like protein 3; GAAGCATTCATATCTTCCTCA 0.493 21 92 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20658901 20658901 + Nonsense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:20658901T>A uc001ytg.2 - 14 1985 c.1276A>T c.(1276-1278)AGA>TGA p.R426* uc010tyx.1_Intron|uc001yth.3_Nonsense_Mutation_p.R426*|uc010tyy.1_Nonsense_Mutation_p.R426*|uc010tyz.1_Nonsense_Mutation_p.R274* RecName: Full=Putative HERC2-like protein 3; GGAATAAGTCTTTGCCATCCA 0.368 21 98 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23890379 23890379 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:23890379G>A uc001ywj.3 - 1 797 c.702C>T c.(700-702)GTC>GTT p.V234V NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGCTGTGGGACCCATGGAA 0.587 21 47 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921562 24921562 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:24921562G>T uc001ywo.2 + 1 1022 c.548G>T c.(547-549)GGA>GTA p.G183V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 183 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) CTTAGCAGCGGAGAAGCATCG 0.597 5 14 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28096622 28096622 + Splice_Site SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:28096622C>A uc001zbh.3 - 22 2355 c.2245_splice c.e22-1 p.I749_splice OCA2_uc010ayv.2_Splice_Site_p.I725_splice NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCACGGGAATCTGTGGAGGAA 0.557 Oculocutaneous_Albinism 4 11 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33872198 33872198 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:33872198C>A uc001zhi.2 + 13 1360 c.1290C>A c.(1288-1290)GCC>GCA p.A430A RYR3_uc010bar.2_Silent_p.A430A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 430 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) GCACAGCTGCCCCCATCACCC 0.552 8 5 --- --- --- --- PASS TGM7 116179 broad.mit.edu 37 15 43571926 43571926 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:43571926G>A uc001zrf.1 - 10 1580 c.1575C>T c.(1573-1575)ATC>ATT p.I525I NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 525 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CCACCAGTCCGATGGGCCCCC 0.647 19 25 --- --- --- --- PASS TRPM7 54822 broad.mit.edu 37 15 50897096 50897096 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:50897096C>A uc001zyt.3 - 21 3219 c.2955G>T c.(2953-2955)CAG>CAT p.Q985H TRPM7_uc010bew.1_Missense_Mutation_p.Q985H|TRPM7_uc001zyu.2_Missense_Mutation_p.Q543H NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 985 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AAGGTCCTGCCTGTTGATTTA 0.299 9 9 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305590 54305590 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:54305590G>T uc002ack.2 + 1 490 c.490G>T c.(490-492)GAG>TAG p.E164* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 164 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGCACCCTCTGAGGGCAGCTC 0.453 17 25 --- --- --- --- PASS MEGF11 84465 broad.mit.edu 37 15 66223228 66223228 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:66223228C>A uc002apm.2 - 11 1482 c.1341G>T c.(1339-1341)TCG>TCT p.S447S MEGF11_uc002apl.2_Silent_p.S372S|MEGF11_uc002apn.1_Silent_p.S447S NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 447 EGF-like 8. basolateral plasma membrane|integral to membrane pancreas(1) 1 TACAGATGGACGAGCAGTTGG 0.557 17 28 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73408948 73408948 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:73408948A>T uc002avm.3 + 2 340 c.198A>T c.(196-198)AGA>AGT p.R66S NEO1_uc010ukx.1_Missense_Mutation_p.R66S|NEO1_uc010uky.1_Missense_Mutation_p.R66S|NEO1_uc010ukz.1_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 66 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 TCTCAGTTAGAGGCTCTTCTG 0.358 39 88 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73414925 73414925 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:73414925A>G uc002avm.3 + 3 650 c.508A>G c.(508-510)ATT>GTT p.I170V NEO1_uc010ukx.1_Missense_Mutation_p.I170V|NEO1_uc010uky.1_Missense_Mutation_p.I170V|NEO1_uc010ukz.1_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 170 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 GAACAATGCAATTCTGAATTG 0.383 5 79 --- --- --- --- PASS GOLGA6A 342096 broad.mit.edu 37 15 74364586 74364586 + Silent SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:74364586T>C uc002axa.1 - 14 1607 c.1566A>G c.(1564-1566)CCA>CCG p.P522P uc010ulg.1_5'Flank NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 522 Potential. 0 CCAGGTCCTCTGGGATGTTTG 0.637 4 113 --- --- --- --- PASS FAM154B 283726 broad.mit.edu 37 15 82575389 82575389 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:82575389G>T uc002bgv.2 + 3 1252 c.1183G>T c.(1183-1185)GTG>TTG p.V395L FAM154B_uc010unr.1_Missense_Mutation_p.V380L|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 395 skin(2) 2 TATTCCTGCAGTGAAGGCCTT 0.348 20 30 --- --- --- --- PASS LRRC28 123355 broad.mit.edu 37 15 99796311 99796311 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:99796311G>T uc002bva.1 + 2 304 c.149G>T c.(148-150)AGG>ATG p.R50M LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Translation_Start_Site|LRRC28_uc010urt.1_Translation_Start_Site|LRRC28_uc002bvc.1_Missense_Mutation_p.R50M|LRRC28_uc010uru.1_Missense_Mutation_p.R50M|LRRC28_uc002bvd.1_Missense_Mutation_p.R50M NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 50 LRR 2. 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TATATGAAAAGGAACTCCCTG 0.348 20 32 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102345983 102345983 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr15:102345983C>T uc010utr.1 + 1 61 c.61C>T c.(61-63)CGG>TGG p.R21W NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTCTGACTCGCGGAAGATCCA 0.498 49 87 --- --- --- --- PASS AQP8 343 broad.mit.edu 37 16 25232839 25232839 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:25232839G>C uc002doc.2 + 3 404 c.322G>C c.(322-324)GTG>CTG p.V108L NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 108 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CCTCAACCTGGTGATGCTCCT 0.627 31 31 --- --- --- --- PASS GDPD3 79153 broad.mit.edu 37 16 30123732 30123732 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:30123732G>A uc002dwp.2 - 5 457 c.378C>T c.(376-378)CAC>CAT p.H126H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Silent_p.H64H|LOC100271831_uc010vei.1_5'Flank NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 126 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 GGTCTGACCCGTGAGCAAAGT 0.607 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 21 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48117870 48117870 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:48117870G>T uc002efc.1 - 28 4289 c.3943C>A c.(3943-3945)CTC>ATC p.L1315I ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1315 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) ACTGTGTTGAGGCGGTGGGCG 0.522 33 49 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48117871 48117871 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:48117871G>T uc002efc.1 - 28 4288 c.3942C>A c.(3940-3942)CGC>CGA p.R1314R ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1314 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTGTGTTGAGGCGGTGGGCGA 0.522 33 49 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51174581 51174581 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:51174581C>T uc010vgs.1 - 2 1583 c.1552G>A c.(1552-1554)GAC>AAC p.D518N SALL1_uc010vgr.1_Missense_Mutation_p.D421N|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 518 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGGATATTGTCCAAATGCTCA 0.517 26 53 --- --- --- --- PASS CES1 1066 broad.mit.edu 37 16 55855365 55855365 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:55855365T>C uc002eim.2 - 5 713 c.605A>G c.(604-606)CAG>CGG p.Q202R CES1_uc002eil.2_Missense_Mutation_p.Q203R|CES1_uc002ein.2_Missense_Mutation_p.Q202R NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 202 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AATGTTGTCCTGGACCCAGCG 0.582 16 18 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56936405 56936405 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:56936405G>A uc010ccm.2 + 24 2870 c.2841G>A c.(2839-2841)ACG>ACA p.T947T SLC12A3_uc002ekd.3_Silent_p.T956T|SLC12A3_uc010ccn.2_Silent_p.T955T NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 947 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) AGGAGATTACGAAGAACAGAG 0.582 17 29 --- --- --- --- PASS CCDC102A 92922 broad.mit.edu 37 16 57550347 57550347 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:57550347C>T uc002elw.2 - 7 1490 c.1277G>A c.(1276-1278)GGC>GAC p.G426D NM_033212 NP_149989 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 426 ovary(1) 1 CTTCAGCTTGCCATGCACATG 0.627 11 12 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58585531 58585531 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:58585531T>A uc002env.2 - 23 3456 c.3163A>T c.(3163-3165)ACC>TCC p.T1055S CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T1050S|CNOT1_uc002enx.2_Missense_Mutation_p.T1055S|CNOT1_uc002enz.1_Missense_Mutation_p.T484S|CNOT1_uc010vik.1_Missense_Mutation_p.T51S|SNORA46_uc002eny.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1055 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GTTGGCCTGGTGACCGTAACC 0.383 37 63 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61859083 61859083 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:61859083G>T uc002eog.1 - 5 920 c.668C>A c.(667-669)GCT>GAT p.A223D CDH8_uc002eoh.2_5'UTR NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 223 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTTATAATAGCTGAGGGGGA 0.438 14 30 --- --- --- --- PASS EXOC3L 283849 broad.mit.edu 37 16 67221658 67221658 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:67221658C>A uc002erx.1 - 5 751 c.510G>T c.(508-510)GAG>GAT p.E170D EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.E114D|EXOC3L_uc010vje.1_Missense_Mutation_p.E109D NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 170 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) CTCGCAGCTGCTCCAGCTCCC 0.597 20 32 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67322470 67322470 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:67322470G>C uc002eso.3 + 20 6068 c.3533G>C c.(3532-3534)GGG>GCG p.G1178A PLEKHG4_uc002esp.3_Missense_Mutation_p.G985A|PLEKHG4_uc002esq.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010cef.2_Missense_Mutation_p.G1178A|PLEKHG4_uc002ess.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010ceg.2_Missense_Mutation_p.G1097A NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 1178 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGTGTGTCAGGGCAGGCCCTG 0.612 40 66 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77331223 77331223 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:77331223C>G uc002ffc.3 - 18 3183 c.2764G>C c.(2764-2766)GAG>CAG p.E922Q ADAMTS18_uc010chc.1_Missense_Mutation_p.E510Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E618Q NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 922 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 ATTTTGGGCTCAGTTACTGGC 0.398 43 53 --- --- --- --- PASS SLC38A8 146167 broad.mit.edu 37 16 84050257 84050257 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:84050257C>A uc002fhg.1 - 8 1029 c.1029G>T c.(1027-1029)GGG>GGT p.G343G NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 343 amino acid transport|sodium ion transport integral to membrane 0 GGACCCACAGCCCTGAGGGGT 0.647 3 47 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270958 84270958 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:84270958C>T uc010voc.1 - 2 255 c.134G>A c.(133-135)CGG>CAG p.R45Q KCNG4_uc002fhu.1_Missense_Mutation_p.R45Q NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 45 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 ACCCACCTTCCGCACCCTCCG 0.627 17 30 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89816153 89816153 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr16:89816153A>G uc002fou.1 - 32 3266 c.3224T>C c.(3223-3225)CTG>CCG p.L1075P FANCA_uc010vpn.1_Missense_Mutation_p.L1075P|FANCA_uc010vpo.1_Missense_Mutation_p.L161P NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1075 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GTACATTAGCAGCTCCCTCTG 0.577 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 5 15 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C A A rs121912654 TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCGCGGACGCGGGTGCCG 0.617 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 19 --- --- --- --- PASS RCVRN 5957 broad.mit.edu 37 17 9808247 9808247 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:9808247T>C uc002gme.1 - 1 438 c.251A>G c.(250-252)AAG>AGG p.K84R NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 84 EF-hand 2.|1; low affinity (By similarity). visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 GACGTACTCCTTGAAGTCCAG 0.607 23 9 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10555833 10555833 + Silent SNP C T T rs147410236 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:10555833C>T uc002gmq.1 - 3 329 c.252G>A c.(250-252)AAG>AAA p.K84K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 84 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCCTGTCGAACTTGGGGGGGT 0.502 16 10 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10555834 10555834 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:10555834T>A uc002gmq.1 - 3 328 c.251A>T c.(250-252)AAG>ATG p.K84M NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 84 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CCTGTCGAACTTGGGGGGGTT 0.502 17 10 --- --- --- --- PASS PIRT 644139 broad.mit.edu 37 17 10728806 10728806 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:10728806G>T uc010col.2 - 2 452 c.157C>A c.(157-159)CGC>AGC p.R53S NM_001101387 NP_001094857 P0C851 PIRT_HUMAN phosphoinositide-interacting regulator of 53 integral to membrane ovary(1) 1 ATGGGCTTGCGGTAGATTTCC 0.587 10 10 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 32483084 32483084 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:32483084G>A uc002hhu.2 - 1 742 c.468C>T c.(466-468)TTC>TTT p.F156F NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 156 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) CACGGTGCAGGAACTCCAGCA 0.577 42 30 --- --- --- --- PASS ARSG 22901 broad.mit.edu 37 17 66303806 66303806 + Missense_Mutation SNP A C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:66303806A>C uc002jhc.2 + 2 968 c.172A>C c.(172-174)ACA>CCA p.T58P ARSG_uc002jhb.1_Intron NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 58 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGGGCAGAAACAAAGGACAC 0.488 9 26 --- --- --- --- PASS TRIM65 201292 broad.mit.edu 37 17 73887267 73887267 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:73887267G>T uc002jpx.2 - 6 1183 c.1147C>A c.(1147-1149)CAC>AAC p.H383N NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 383 B30.2/SPRY. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGTAGTGGTGCCCGGCCTGG 0.672 7 42 --- --- --- --- PASS CCDC137 339230 broad.mit.edu 37 17 79634874 79634874 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr17:79634874A>G uc002kbc.3 + 2 286 c.250A>G c.(250-252)AAG>GAG p.K84E C17orf90_uc002kba.2_5'Flank|C17orf90_uc002kbb.2_5'Flank|CCDC137_uc002kbd.2_RNA NM_199287 NP_954981 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 84 p.K84K(1) central_nervous_system(1) 1 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GATCAGTAACAAGAAGAGGAA 0.502 8 11 --- --- --- --- PASS ENOSF1 55556 broad.mit.edu 37 18 706489 706489 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:706489C>A uc002kku.3 - 2 249 c.174G>T c.(172-174)CTG>CTT p.L58L ENOSF1_uc002kkt.3_Missense_Mutation_p.W15L|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Silent_p.L79L|ENOSF1_uc002kkv.3_Silent_p.L58L|ENOSF1_uc002kkw.3_5'UTR|ENOSF1_uc002kkx.3_Silent_p.L58L|ENOSF1_uc010wyt.1_RNA NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 58 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 TGCCTTTTCCCAGAGTGAAGG 0.428 35 74 --- --- --- --- PASS ADCYAP1 116 broad.mit.edu 37 18 905402 905402 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:905402C>A uc010dkg.2 + 2 134 c.15C>A c.(13-15)AGC>AGA p.S5R ADCYAP1_uc010dkh.2_Missense_Mutation_p.S5R NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 5 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 CCATGTGTAGCGGAGCGAGGC 0.622 22 60 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3534287 3534287 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:3534287C>G uc002kmf.2 - 7 2451 c.2384G>C c.(2383-2385)TGG>TCG p.W795S DLGAP1_uc010wyz.1_Missense_Mutation_p.W795S|DLGAP1_uc002kme.1_Missense_Mutation_p.W493S|DLGAP1_uc010dkn.2_Missense_Mutation_p.W503S|DLGAP1_uc010wyw.1_Missense_Mutation_p.W501S|DLGAP1_uc010wyx.1_Missense_Mutation_p.W517S|DLGAP1_uc010wyy.1_Missense_Mutation_p.W479S|DLGAP1_uc002kmg.2_Missense_Mutation_p.W493S NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 795 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CTTCAGGAACCAGTGGCCATC 0.587 14 29 --- --- --- --- PASS ZNF519 162655 broad.mit.edu 37 18 14105711 14105711 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:14105711C>A uc002kst.1 - 3 981 c.828G>T c.(826-828)AGG>AGT p.R276S ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GATGTAAGCCCCTGGTAAAAG 0.348 20 56 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28923500 28923500 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:28923500G>T uc002kwp.2 + 12 1987 c.1775G>T c.(1774-1776)GGA>GTA p.G592V DSG1_uc010xbp.1_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 592 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGTTCAGATGGAGCAATTCAT 0.488 35 35 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 51013254 51013254 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:51013254C>A uc002lfe.1 + 26 4411 c.3824C>A c.(3823-3825)CCG>CAG p.P1275Q DCC_uc010dpf.1_Missense_Mutation_p.P910Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1275 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TATCCCCACCCGCAGTTCACT 0.537 22 25 --- --- --- --- PASS TNFRSF11A 8792 broad.mit.edu 37 18 60021677 60021677 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:60021677G>T uc002lin.2 + 4 375 c.337G>T c.(337-339)GCG>TCG p.A113S TNFRSF11A_uc010dpv.2_Missense_Mutation_p.A113S NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 113 Extracellular (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) CCGGCGCTGCGCGTGCACGGC 0.731 Paget_Disease_of_Bone 9 9 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61305235 61305235 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:61305235G>A uc002ljf.2 - 8 977 c.891C>T c.(889-891)GAC>GAT p.D297D SERPINB4_uc002lje.2_Silent_p.D276D|SERPINB4_uc002ljg.2_Silent_p.D297D NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 297 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TTCTCAACGTGTCCTTGAGGT 0.448 4 47 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753214 76753214 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:76753214A>T uc002lmt.2 + 2 1223 c.1223A>T c.(1222-1224)GAG>GTG p.E408V SALL3_uc010dra.2_Missense_Mutation_p.E15V NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCGGTGTTCGAGCCCAAAGCC 0.657 8 3 --- --- --- --- PASS CTDP1 9150 broad.mit.edu 37 18 77477959 77477959 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:77477959G>T uc002lnh.1 + 10 2507 c.2360G>T c.(2359-2361)CGG>CTG p.R787L CTDP1_uc002lni.1_Missense_Mutation_p.R787L|CTDP1_uc010drd.1_Missense_Mutation_p.R787L NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 787 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) ACGGGCGCCCGGGGGCCCCCA 0.672 24 17 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2413858 2413858 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:2413858C>A uc010xgx.1 + 9 1313 c.1313C>A c.(1312-1314)GCC>GAC p.A438D TMPRSS9_uc002lvv.1_Missense_Mutation_p.A472D NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 438 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) ACCACCAAAGCCAGCATGCCT 0.672 18 14 --- --- --- --- PASS ZNF555 148254 broad.mit.edu 37 19 2853168 2853168 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:2853168G>T uc002lwo.2 + 4 1194 c.1105G>T c.(1105-1107)GAA>TAA p.E369* ZNF555_uc002lwn.3_Nonsense_Mutation_p.E368* NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 369 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) GAAACCCTACGAATGCAAACA 0.453 9 25 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8130877 8130877 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:8130877C>G uc002mjf.2 - 63 8377 c.8356G>C c.(8356-8358)GGT>CGT p.G2786R FBN3_uc002mje.2_Missense_Mutation_p.G582R NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2786 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGCTGGACACCCCAGGGTCCT 0.692 36 14 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11105646 11105646 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:11105646G>C uc002mqf.3 + 9 1846 c.1562G>C c.(1561-1563)CGG>CCG p.R521P SMARCA4_uc010dxp.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxo.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqg.1_Missense_Mutation_p.R521P|SMARCA4_uc010dxq.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxr.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqj.3_Missense_Mutation_p.R521P|SMARCA4_uc010dxs.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqe.2_Missense_Mutation_p.R521P NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 521 HSA. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAGAACGAGCGGATCGAGAAG 0.567 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 6 1 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11326504 11326504 + Nonsense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:11326504G>A uc002mqs.3 - 31 4035 c.3994C>T c.(3994-3996)CGA>TGA p.R1332* DOCK6_uc010xlq.1_Nonsense_Mutation_p.R671* NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1332 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATTTCTTGTCGAGCTCCGATG 0.537 10 39 --- --- --- --- PASS CNN1 1264 broad.mit.edu 37 19 11657765 11657765 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:11657765T>A uc002msc.1 + 4 535 c.371T>A c.(370-372)CTC>CAC p.L124H CNN1_uc010xmb.1_Missense_Mutation_p.L74H|CNN1_uc010xmc.1_Missense_Mutation_p.L74H NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 124 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 CAGTCCACCCTCCTGGCTTTG 0.592 42 30 --- --- --- --- PASS PKN1 5585 broad.mit.edu 37 19 14574959 14574959 + Silent SNP G T T rs2230538 by1000genomes TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:14574959G>T uc002myp.2 + 12 1893 c.1725G>T c.(1723-1725)TCG>TCT p.S575S PKN1_uc002myq.2_Silent_p.S581S NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 575 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CCAGCCCATCGAGCCTGGTGA 0.532 19 16 --- --- --- --- PASS ZNF333 84449 broad.mit.edu 37 19 14805852 14805852 + Nonsense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:14805852G>T uc002mzn.2 + 3 168 c.34G>T c.(34-36)GAG>TAG p.E12* ZNF333_uc010dzq.2_Nonsense_Mutation_p.E12*|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Nonsense_Mutation_p.E12*|ZNF333_uc002mzm.2_Nonsense_Mutation_p.E12*|ZNF333_uc010dzr.1_RNA NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 12 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGTGGCCGTGGAGTTCATCCA 0.567 30 26 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364051 22364051 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:22364051T>A uc002nqs.1 - 3 786 c.468A>T c.(466-468)CTA>CTT p.L156L NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 156 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) CATGTTGAGATAGGTGTGAAA 0.318 36 33 --- --- --- --- PASS WDR62 284403 broad.mit.edu 37 19 36549728 36549728 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:36549728G>T uc002odc.2 + 2 315 c.224G>T c.(223-225)GGC>GTC p.G75V WDR62_uc002odd.2_Missense_Mutation_p.G75V|WDR62_uc010eer.2_Missense_Mutation_p.G75V|WDR62_uc002odb.2_Missense_Mutation_p.G75V NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 75 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AACAGCAGTGGCCTAACCTGT 0.542 4 15 --- --- --- --- PASS DMRTC2 63946 broad.mit.edu 37 19 42351680 42351680 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:42351680C>T uc002ors.2 + 2 267 c.184C>T c.(184-186)CTC>TTC p.L62F DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.L62F NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 62 DM. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 GCGCCTCTGCCTCTTCCAGGC 0.607 30 61 --- --- --- --- PASS PHLDB3 653583 broad.mit.edu 37 19 44008084 44008084 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:44008084T>C uc002own.3 - 2 446 c.187A>G c.(187-189)AGC>GGC p.S63G PHLDB3_uc002owo.2_Missense_Mutation_p.S63G NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 63 0 Prostate(69;0.0153) TCAGTGCTGCTGCCTTCTCCC 0.682 17 29 --- --- --- --- PASS CKM 1158 broad.mit.edu 37 19 45822920 45822920 + Nonsense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:45822920C>A uc002pbd.2 - 2 126 c.52G>T c.(52-54)GAG>TAG p.E18* NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 18 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GGGTACTCCTCCTCAGGCTTG 0.527 45 77 --- --- --- --- PASS MED25 81857 broad.mit.edu 37 19 50333387 50333387 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:50333387C>T uc002ppw.1 + 7 784 c.731C>T c.(730-732)CCA>CTA p.P244L MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Missense_Mutation_p.P25L NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 244 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TCAAAGCAGCCAGTCCCCCTG 0.647 47 61 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51175289 51175289 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:51175289C>T uc002psx.1 - 21 2679 c.2660G>A c.(2659-2661)CGG>CAG p.R887Q SHANK1_uc002psw.1_Missense_Mutation_p.R271Q NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 887 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGATTTTTGCCGGAGCATCAA 0.562 5 16 --- --- --- --- PASS KLK15 55554 broad.mit.edu 37 19 51329080 51329080 + Nonsense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:51329080C>T uc002ptl.2 - 5 774 c.743G>A c.(742-744)TGG>TAG p.W248* KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Nonsense_Mutation_p.W163*|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Nonsense_Mutation_p.W247*|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 248 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TTCCCTGATCCACTCCAAGTA 0.572 15 25 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55144657 55144657 + Silent SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:55144657C>A uc002qgj.2 + 8 1489 c.1149C>A c.(1147-1149)CCC>CCA p.P383P LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.P383P|LILRB1_uc002qgk.2_Silent_p.P383P|LILRB1_uc002qgm.2_Silent_p.P383P|LILRB1_uc010erq.2_Silent_p.P383P|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 383 Ig-like C2-type 4.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CTGAATTCCCCATGGGTCCTG 0.562 HNSCC(37;0.09) 35 70 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55805501 55805501 + Missense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:55805501G>C uc002qkg.2 + 5 852 c.575G>C c.(574-576)GGG>GCG p.G192A BRSK1_uc002qkf.2_Missense_Mutation_p.G208A NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 192 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACCAGCTGCGGGTGAGTGGGG 0.612 56 108 --- --- --- --- PASS ZSCAN22 342945 broad.mit.edu 37 19 58849997 58849997 + Missense_Mutation SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:58849997A>G uc002qsc.2 + 3 928 c.781A>G c.(781-783)ACC>GCC p.T261A ZSCAN22_uc010yhz.1_Silent_p.T255T NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 261 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCCTCCATACACCTACTCAGG 0.532 84 131 --- --- --- --- PASS RPS5 6193 broad.mit.edu 37 19 58906108 58906108 + Silent SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr19:58906108C>G uc002qsn.2 + 6 678 c.606C>G c.(604-606)TCC>TCG p.S202S RPS5_uc002qso.2_Silent_p.S202S NM_001009 NP_001000 P46782 RS5_HUMAN ribosomal protein S5 202 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome 0 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) TGGCCAAGTCCAACCGCTGAT 0.572 24 62 --- --- --- --- PASS PRNT 149830 broad.mit.edu 37 20 4713279 4713279 + RNA SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:4713279A>T uc002wlb.2 - 2 c.745T>A PRNT_uc010zqp.1_RNA|PRNT_uc010zqq.1_RNA NR_024268 Homo sapiens mRNA for putative M8 protein, isoform 2. 0 aagatgggaaagatgtagaat 0.000 7 22 --- --- --- --- PASS GPCPD1 56261 broad.mit.edu 37 20 5554612 5554612 + Silent SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:5554612C>T uc002wme.3 - 11 1218 c.1005G>A c.(1003-1005)CTG>CTA p.L335L GPCPD1_uc002wmd.3_Silent_p.L154L NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 335 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 GAACTTTAGCCAGCCTGAAAA 0.318 48 40 --- --- --- --- PASS SSTR4 6754 broad.mit.edu 37 20 23016271 23016271 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:23016271C>G uc002wsr.2 + 1 215 c.151C>G c.(151-153)CAG>GAG p.Q51E NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 51 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGTCGCTATCCAGTGCATCTA 0.537 78 48 --- --- --- --- PASS CD93 22918 broad.mit.edu 37 20 23065047 23065047 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:23065047G>T uc002wsv.2 - 1 1931 c.1783C>A c.(1783-1785)CTC>ATC p.L595I NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 595 Helical; (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCAGCAGGAGTAGGATGGCC 0.572 46 237 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24524213 24524213 + Silent SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:24524213G>A uc002wtw.1 + 2 1113 c.480G>A c.(478-480)GAG>GAA p.E160E NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 160 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 AGGAGCTGGAGGTCACAGGAT 0.512 20 118 --- --- --- --- PASS PYGB 5834 broad.mit.edu 37 20 25259697 25259697 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:25259697C>A uc002wup.2 + 9 1113 c.1004C>A c.(1003-1005)GCC>GAC p.A335D NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 335 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) CTTCAGGTGGCCATCCAGCTG 0.607 16 13 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36850858 36850858 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:36850858C>T uc002xhy.1 - 10 2682 c.2410G>A c.(2410-2412)GAT>AAT p.D804N KIAA1755_uc002xhx.1_Missense_Mutation_p.D82N NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 804 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TACCTGACATCAGGGCTGAAG 0.637 OREG0025921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 45 --- --- --- --- PASS STK4 6789 broad.mit.edu 37 20 43607148 43607148 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:43607148G>T uc002xnb.2 + 3 271 c.181G>T c.(181-183)GTT>TTT p.V61F STK4_uc010ggx.2_Missense_Mutation_p.V61F|STK4_uc010ggy.2_Missense_Mutation_p.V61F|STK4_uc010ggw.1_Missense_Mutation_p.V61F NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 61 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) TATTAAGCAAGTTCCTGTGGA 0.418 27 35 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44663630 44663630 + Silent SNP C G G rs143969641 byFrequency TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:44663630C>G uc010zxl.1 + 2 241 c.165C>G c.(163-165)ACC>ACG p.T55T SLC12A5_uc002xra.2_Silent_p.T32T|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.T32T NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 55 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCAACAGCACCGACACAGAGA 0.527 13 48 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50049180 50049180 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:50049180C>T uc002xwd.2 - 9 2366 c.2146G>A c.(2146-2148)GAG>AAG p.E716K NFATC2_uc002xwc.2_Missense_Mutation_p.E716K|NFATC2_uc010zyv.1_Missense_Mutation_p.E497K|NFATC2_uc010zyw.1_Missense_Mutation_p.E497K|NFATC2_uc010zyx.1_Missense_Mutation_p.E696K|NFATC2_uc010zyy.1_Missense_Mutation_p.E497K|NFATC2_uc010zyz.1_Missense_Mutation_p.E497K|NFATC2_uc002xwe.2_Missense_Mutation_p.E696K NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 716 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GAGGGGGACTCGGCCACCATC 0.672 19 21 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61340679 61340679 + Silent SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr20:61340679C>G uc002ydf.2 + 1 491 c.120C>G c.(118-120)GGC>GGG p.G40G NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 40 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ACGCTTCGGGCAACGCGTCGG 0.731 6 8 --- --- --- --- PASS KRTAP13-2 337959 broad.mit.edu 37 21 31744283 31744283 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr21:31744283G>T uc002ynz.3 - 1 275 c.249C>A c.(247-249)CCC>CCA p.P83P NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 83 4.|5 X 10 AA approximate repeats. intermediate filament 0 AGGAGGTTCTGGGGCGGTAGC 0.607 24 6 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32513449 32513449 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr21:32513449C>A uc002yow.1 - 23 4233 c.3761G>T c.(3760-3762)GGT>GTT p.G1254V TIAM1_uc011adk.1_Missense_Mutation_p.G1254V|TIAM1_uc011adl.1_Missense_Mutation_p.G1194V NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1254 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TTTTTTCTCACCAGTCTGTTC 0.408 18 12 --- --- --- --- PASS TRAPPC10 7109 broad.mit.edu 37 21 45494322 45494322 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr21:45494322G>T uc002zea.2 + 8 1325 c.1156G>T c.(1156-1158)GTG>TTG p.V386L TRAPPC10_uc010gpo.2_Missense_Mutation_p.V97L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 386 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TGCCCACACTGTGGGGCTATG 0.572 13 19 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17073187 17073187 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:17073187G>T uc002zlp.1 - 1 514 c.254C>A c.(253-255)CCA>CAA p.P85Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 85 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCATGCTGCTGGGTGCTCCAG 0.627 12 30 --- --- --- --- PASS SCARF2 91179 broad.mit.edu 37 22 20780198 20780198 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:20780198C>T uc002zsj.1 - 11 2185 c.2080G>A c.(2080-2082)GAG>AAG p.E694K SCARF2_uc002zsk.1_Missense_Mutation_p.E689K NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 689 Pro-rich.|Cytoplasmic (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGCGCGGCCTCGGAGCCTGGC 0.721 4 13 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26272168 26272168 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:26272168G>A uc003abz.1 + 24 4343 c.4093G>A c.(4093-4095)GCT>ACT p.A1365T MYO18B_uc003aca.1_Missense_Mutation_p.A1246T|MYO18B_uc010guy.1_Missense_Mutation_p.A1247T|MYO18B_uc010guz.1_Missense_Mutation_p.A1246T|MYO18B_uc011aka.1_Missense_Mutation_p.A519T|MYO18B_uc011akb.1_Missense_Mutation_p.A878T NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1365 IQ. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCGCCGACTGGCTGCACAGTG 0.572 5 15 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26773647 26773647 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:26773647A>T uc003acb.2 + 16 3107 c.2951A>T c.(2950-2952)TAC>TTC p.Y984F SEZ6L_uc003acc.2_Missense_Mutation_p.Y983F|SEZ6L_uc011akc.1_Missense_Mutation_p.Y973F|SEZ6L_uc003acd.2_Missense_Mutation_p.Y909F|SEZ6L_uc011akd.1_Missense_Mutation_p.Y971F|SEZ6L_uc003ace.2_Missense_Mutation_p.Y908F|SEZ6L_uc003acf.1_Missense_Mutation_p.Y756F|SEZ6L_uc010gvc.1_Missense_Mutation_p.Y680F|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 984 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 AGATGTCGCTACTATTCCAAC 0.512 32 40 --- --- --- --- PASS CHEK2 11200 broad.mit.edu 37 22 29092887 29092887 + Splice_Site SNP A G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:29092887A>G uc003adu.1 - 10 1167 c.1095_splice c.e10+1 p.K365_splice CHEK2_uc003ads.1_Splice_Site_p.K144_splice|CHEK2_uc010gvh.1_Splice_Site_p.K274_splice|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Splice_Site|CHEK2_uc010gvk.1_Splice_Site|CHEK2_uc003adt.1_Splice_Site_p.K408_splice|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Splice_Site_p.K365_splice|CHEK2_uc003adx.1_Splice_Site_p.K144_splice|CHEK2_uc003ady.1_Splice_Site_p.K365_splice|CHEK2_uc003adz.1_Splice_Site_p.K169_splice NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCAATTTCTTACCTTTATAAG 0.358 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 16 18 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32586857 32586857 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:32586857A>T uc003amg.3 - 5 1975 c.1039T>A c.(1039-1041)TCA>ACA p.S347T RFPL2_uc003ame.3_Missense_Mutation_p.S286T|RFPL2_uc003amf.3_Missense_Mutation_p.S257T|RFPL2_uc003amh.3_Missense_Mutation_p.S257T NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 347 B30.2/SPRY. zinc ion binding skin(1) 1 GGTGGAACTGAAGGAGCCAAA 0.488 40 64 --- --- --- --- PASS SYN3 8224 broad.mit.edu 37 22 32937569 32937569 + Missense_Mutation SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:32937569T>C uc003amx.2 - 7 1064 c.905A>G c.(904-906)TAC>TGC p.Y302C SYN3_uc003amy.2_Missense_Mutation_p.Y302C|SYN3_uc003amz.2_Missense_Mutation_p.Y301C NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 302 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GTAAGCCTTGTAGTTGGATCC 0.592 15 18 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35809887 35809887 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:35809887C>A uc003anu.3 + 9 1205 c.1111C>A c.(1111-1113)CGC>AGC p.R371S MCM5_uc010gwr.2_Missense_Mutation_p.R180S|MCM5_uc003anv.3_Missense_Mutation_p.R328S|MCM5_uc010gws.1_Intron|MCM5_uc003anw.1_Missense_Mutation_p.R155S NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 371 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 TGGACTTACTCGCCGAGGAGA 0.562 26 30 --- --- --- --- PASS SSTR3 6753 broad.mit.edu 37 22 37602607 37602607 + Silent SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:37602607C>G uc003ara.2 - 2 1298 c.1236G>C c.(1234-1236)ACG>ACC p.T412T SSTR3_uc003arb.2_Silent_p.T412T NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 412 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 TGATGCGCATCGTGCTGGACT 0.657 28 34 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40080432 40080432 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:40080432C>T uc003ayc.2 + 36 5956 c.5956C>T c.(5956-5958)CCC>TCC p.P1986S CACNA1I_uc003ayd.2_Missense_Mutation_p.P1951S|CACNA1I_uc003aye.2_Missense_Mutation_p.P1901S|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1866S NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1986 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGGAACCCTCCCCAAGATTGC 0.637 4 13 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40662558 40662558 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:40662558G>T uc011aor.1 + 5 2535 c.2324G>T c.(2323-2325)GGA>GTA p.G775V TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.G775V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G579V NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 775 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 TGGGGTGAAGGAGGGCAGAAT 0.498 13 11 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:41565529G>A uc003azl.3 + 26 4590 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1399 D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399Y(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATCTTACCTCGATAGTGTTCA 0.338 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 24 46 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42159237 42159237 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr22:42159237A>T uc003baz.1 + 19 2205 c.2180A>T c.(2179-2181)GAC>GTC p.D727V WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D113V|MEI1_uc003bbc.1_Missense_Mutation_p.D95V|MEI1_uc010gym.1_Missense_Mutation_p.D95V|MEI1_uc003bbd.1_Intron NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 727 binding central_nervous_system(1)|skin(1) 2 TCGCTGCAGGACCAGGGCGAG 0.527 OREG0026596 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 32 --- --- --- --- PASS SLC25A6 293 broad.mit.edu 37 X 1505504 1505504 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:1505504C>G uc004cpt.2 - 4 984 c.888G>C c.(886-888)AAG>AAC p.K296N SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 296 Helical; Name=6; (By similarity).|Solcar 3. active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) CTTAGATCACCTTCTTGAGCT 0.612 52 73 --- --- --- --- PASS MAP3K15 389840 broad.mit.edu 37 X 19389643 19389643 + Silent SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:19389643G>T uc004czk.1 - 24 3176 c.1539C>A c.(1537-1539)TCC>TCA p.S513S MAP3K15_uc004czj.1_Silent_p.S473S|MAP3K15_uc004czi.1_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1038 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) GCAACTCTTCGGAACTCTGAA 0.468 30 4 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157961 26157961 + Missense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:26157961T>A uc004dbq.1 + 2 1046 c.859T>A c.(859-861)TTT>ATT p.F287I NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 287 MAGE. protein binding central_nervous_system(1) 1 AGTCCTGGAGTTTGTAGCCAA 0.522 10 7 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212377 26212377 + Silent SNP T A A rs138255352 by1000genomes TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:26212377T>A uc004dbr.2 + 2 563 c.414T>A c.(412-414)ACT>ACA p.T138T MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 138 Ser-rich. ovary(3) 3 GTCCAAGCACTTCCCATGATG 0.537 35 8 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148160 34148160 + Nonsense_Mutation SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:34148160T>A uc004ddg.2 - 1 2269 c.2236A>T c.(2236-2238)AAG>TAG p.K746* NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 746 ovary(4)|central_nervous_system(1) 5 TCATAGCCCTTGCTTAGAATG 0.413 59 20 --- --- --- --- PASS SLC7A3 84889 broad.mit.edu 37 X 70148090 70148090 + Missense_Mutation SNP G A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:70148090G>A uc004dyn.2 - 5 883 c.725C>T c.(724-726)TCT>TTT p.S242F SLC7A3_uc004dyo.2_Missense_Mutation_p.S242F NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 242 Helical; Name=6; (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AAATCCTCCAGAGCCCAGAGG 0.488 7 3 --- --- --- --- PASS CXCR3 2833 broad.mit.edu 37 X 70836893 70836893 + Silent SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:70836893G>C uc004eaf.2 - 2 497 c.429C>G c.(427-429)GCC>GCG p.A143A BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.A190A NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 143 Helical; Name=3; (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) AGCTGATGCAGGCCAGCAGGA 0.522 4 4 --- --- --- --- PASS ITM2A 9452 broad.mit.edu 37 X 78619025 78619025 + Silent SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:78619025T>C uc004edh.2 - 2 473 c.138A>G c.(136-138)AAA>AAG p.K46K ITM2A_uc011mqr.1_Intron NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 46 integral to membrane protein binding lung(2) 2 AGGAGCCCTCTTTTTCCTGGG 0.403 7 5 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177512 89177512 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:89177512C>A uc004efe.2 + 2 477 c.428C>A c.(427-429)CCG>CAG p.P143Q NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 143 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCGTCTGTGCCGGCCAAGTCA 0.587 28 11 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91134039 91134039 + Missense_Mutation SNP G T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:91134039G>T uc004efk.1 + 2 3645 c.2800G>T c.(2800-2802)GAT>TAT p.D934Y PCDH11X_uc004efl.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D934Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D934Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 934 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CGACAGCCCTGATTTGGCCCG 0.473 67 14 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100509889 100509889 + Missense_Mutation SNP C T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:100509889C>T uc004egz.2 + 19 2525 c.2156C>T c.(2155-2157)TCC>TTC p.S719F DRP2_uc011mrh.1_Missense_Mutation_p.S641F NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 719 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GACACACACTCCCGAATTGAG 0.577 38 17 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118221161 118221161 + Silent SNP T C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:118221161T>C uc004era.3 - 11 4032 c.4032A>G c.(4030-4032)CCA>CCG p.P1344P NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1344 ovary(4)|skin(1) 5 ATGACATCTGTGGCTGGAATT 0.483 148 45 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134993741 134993741 + Missense_Mutation SNP C A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:134993741C>A uc004ezh.2 + 18 2317 c.2150C>A c.(2149-2151)GCT>GAT p.A717D SAGE1_uc010nry.1_Missense_Mutation_p.A686D|SAGE1_uc011mvv.1_Missense_Mutation_p.A341D NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 717 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) ATTCCAGATGCTACTGTCATT 0.433 48 16 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135428121 135428121 + Silent SNP T A A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:135428121T>A uc004ezu.1 + 6 2547 c.2256T>A c.(2254-2256)CCT>CCA p.P752P GPR112_uc010nsb.1_Silent_p.P547P|GPR112_uc010nsc.1_Silent_p.P519P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 752 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CCAATATGCCTGAATTTAAAC 0.378 28 16 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038632 139038632 + Nonsense_Mutation SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:139038632G>C uc004fbb.2 - 3 531 c.509C>G c.(508-510)TCA>TGA p.S170* NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 170 Ser-rich.|Cytoplasmic (Potential). integral to membrane 0 TAATTTTTTTGAGCATGATGA 0.398 136 51 --- --- --- --- PASS MIR513C 100302114 broad.mit.edu 37 X 146271304 146271304 + RNA SNP G C C TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:146271304G>C hsa-mir-513c|MI0006649 - c.2G>C 0 ggcactgtacgctgaatggct 0.164 5 1 --- --- --- --- PASS AVPR2 554 broad.mit.edu 37 X 153171711 153171711 + Missense_Mutation SNP C A A rs113115774 TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:153171711C>A uc004fjh.3 + 2 822 c.751C>A c.(751-753)CGC>AGC p.R251S AVPR2_uc004fjg.3_Missense_Mutation_p.R40S|AVPR2_uc004fji.2_Missense_Mutation_p.R251S NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 251 Cytoplasmic (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGCAGGGGACGCCGGACAGG 0.647 33 9 --- --- --- --- PASS IL9R 3581 broad.mit.edu 37 X 155239643 155239643 + Missense_Mutation SNP C G G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrX:155239643C>G uc004fnv.1 + 9 1314 c.1135C>G c.(1135-1137)CCT>GCT p.P379A IL9R_uc004fnu.1_3'UTR NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 379 Cytoplasmic (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACAGGAGGGCCCTGGGACCAG 0.647 14 36 --- --- --- --- PASS TBL1Y 90665 broad.mit.edu 37 Y 6938804 6938804 + Missense_Mutation SNP A T T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chrY:6938804A>T uc004frb.2 + 10 1281 c.634A>T c.(634-636)AGC>TGC p.S212C TBL1Y_uc004frc.2_Missense_Mutation_p.S212C|TBL1Y_uc004frd.2_Missense_Mutation_p.S212C|TBL1Y_uc011nap.1_Missense_Mutation_p.S54C NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 212 WD 1. transcription, DNA-dependent 0 GAATGAGAATAGCAACGGGGG 0.483 38 13 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75078365 75078371 + Frame_Shift_Del DEL CAAGCCT - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr1:75078365_75078371delCAAGCCT uc001dgg.2 - 9 1342_1348 c.1123_1129delAGGCTTG c.(1123-1131)AGGCTTGGAfs p.R375fs uc001dgh.2_Intron|C1orf173_uc001dgi.3_Frame_Shift_Del_p.R169fs NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 375_377 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CGTTTGCCTCCAAGCCTGGAACCTTTC 0.459 17 16 --- --- --- --- HECW1 23072 broad.mit.edu 37 7 43483903 43483903 + Frame_Shift_Del DEL G - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr7:43483903delG uc003tid.1 + 11 1737 c.1132delG c.(1132-1134)GGGfs p.G378fs HECW1_uc011kbi.1_Frame_Shift_Del_p.G378fs NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 378 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AAGCGGCAGTGGGGAACCTCG 0.567 21 18 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529644 5529644 + Frame_Shift_Del DEL G - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:5529644delG uc001may.1 - 2 1231 c.1145delC c.(1144-1146)CCAfs p.P382fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 382 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGTGACGATGGGGGAACTCT 0.567 60 52 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133790758 133790758 + Frame_Shift_Del DEL C - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr11:133790758delC uc001qgx.3 - 18 3093 c.2862delG c.(2860-2862)CGGfs p.R954fs NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 954 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGCAGGGGGCCGGGCCTGGC 0.706 19 13 --- --- --- --- TRHDE 29953 broad.mit.edu 37 12 72956818 72956818 + Frame_Shift_Del DEL C - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr12:72956818delC uc001sxa.2 + 9 1935 c.1905delC c.(1903-1905)AACfs p.N635fs NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 635 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTCAGAATAACAGGTATGACA 0.264 80 46 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248696 20248696 + Frame_Shift_Del DEL G - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr14:20248696delG uc010tku.1 + 1 215 c.215delG c.(214-216)TGGfs p.W72fs NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTGATATTTGGTACTCTTCC 0.428 99 128 --- --- --- --- ZNF519 162655 broad.mit.edu 37 18 14124370 14124371 + Frame_Shift_Del DEL AG - - TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx d7404e0f-d171-419b-97d3-807570aba129 6f23b703-d797-4ed4-af3a-b68993090c8b g.chr18:14124370_14124371delAG uc002kst.1 - 2 261_262 c.108_109delCT c.(106-111)AACTACfs p.N36fs ZNF519_uc002ksq.1_RNA|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_RNA NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 36_37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTTTCTGTAGTTCTCCAACA 0.401 76 33 --- --- --- ---